WO2001077373A2 - Detektion von variationen des dna-methylierungsprofils - Google Patents

Abstract

Die Erfindung beschreibt einen Satz von Oligonukleotiden als Sonden zur Detektion relevanter Variationen der DNA-Methylierung in einer Zielgruppe von Genen, die Verwendung derselben zum Nachweis von Genvarianten hinsichtlich der DNA-Methylierung, eine medizinische Vorrichtung, welche einen Satz von Oligonukleotiden verwendet, ein Verfahren zur Untersuchung des Methylierungszustandes eines Individuums sowie ein Verfahren zur Erstellung eines Modells zur Bewertung der Eintrittswahrscheinlichkeit einer gesundheitlichen Beeinträchtigung eines Individuums. Derartige Erkrankungen können sein: unerwünschte Arzneimittelwirkungen; Krebserkrankungen; CNS-Fehlfunktionen, Schäden oder Krankheit; aggressive Symptome oder Verhaltensstörungen; klinische, psychologische und soziale Konsequenzen von Gehirnverletzungen; psychotische Störungen und Persönlichkeitsstörungen; Demenz und/oder assoziierte Syndrome; kardiovaskuläre Krankheit, Fehlfunktion und Schädigung; Fehlfunktion, Schädigung oder Krankheit des gastrointestinalen Traktes; Fehlfunktion, Schädigung oder Krankheit des Atmungssystems; Verletzung, Entzündung, Infektion, Immunität und/oder Rekonvaleszenz; Fehlfunktion, Schädigung oder Krankheit des Körpers als Abweichung im Entwicklungsprozess; Fehlfunktion, Schädigung oder Krankheit der Haut, der Muskeln, des Bindegewebes oder der Knochen; endokrine und metabolische Fehlfunktion, Schädigung oder Krankheit; Kopfschmerzen oder sexuelle Fehlfunktion.

Description

Detektion von Variationen des DNA-Methylierungsprofils

Die Erfindung betrifft einen Satz von Oligonukleotiden als Sonden zur Detektion relevanter Variationen der DNA-Methylierung in einer Zielgruppe von Genen, die Verwendung derselben zum Nachweis von Genvarianten hinsichtlich der DNA- Methylierung, eine medizinische Vorrichtung, welche einen Satz von Oligonukleotiden verwendet, ein Verfahren zur Untersuchung des Methylierungszustandes eines Individuums sowie ein Verfahren zur Erstellung eines Modells zur Bewertung der Eintrittswahrscheinlichkeit einer gesundheitlichen Beeinträchtigung eines Individuums.

Die nach den methodischen Entwicklungen der letzten Jahre in der Molekularbiologie gut studierten Beobachtungsebenen sind die Gene selbst, die Übersetzung dieser Gene in RNA und die daraus entstehenden Proteine. Wann im Laufe der Entwicklung eines Individuums welches Gen angeschaltet wird und wie Aktivieren und Inhibieren bestimmter Gene in bestimmten Zellen und Geweben gesteuert wird, ist mit Ausmaß und Charakter der Methylierung der Gene bzw. des Genoms korrelierbar. Insofern korrelieren pathogene Zustände mit einem veränderten Methylierungs- muster einzelner Gene oder des Genoms.

Die vorliegende Erfindung beschreibt Sätze von Oligomeren und Verfahren zur Detektion relevanter Variationen der DNA-Methylierung in einer Zielgruppe von Genen, die mit nachteiligen Ereignissen für Patienten/Individuen oder aber bestimmten Krankheiten in Zusammenhang stehen.

5-Methylcytosin ist die häufigste kovalent modifizierte Base in der DNA eukaryoti- scher Zellen. Sie spielt beispielsweise eine Rolle in der Regulation der Transkription, beim genetischen Imprinting und in der Tumorgenese. Die Identifizierung von 5- Methylcytosin als Bestandteil genetischer Information ist daher von erheblichem Interesse. 5-Methylcytosin-Positionen können jedoch nicht durch Sequenzierung identifiziert werden, da 5-Methylcytosin das gleiche Basenpaarungsverhalten auf- weist wie Cytosin. Darüber hinaus geht bei einer PCR-Amplifikation die epigenetische Information, welche die 5-Methylcytosine tragen, vollständig verloren.

Eine relativ neue und die mittlererweile am häufigsten angewandte Methode zur Untersuchung von DNA auf 5-Methylcytosin beruht auf der spezifischen Reaktion von Bisulfit mit Cytosin, das nach anschließender alkalischer Hydrolyse in Uracil umgewandelt wird, welches in seinem Basenpaarungsverhalten dem Thymidin entspricht. 5-Methylcytosin wird dagegen unter diesen Bedingungen nicht modifiziert. Damit wird die ursprüngliche DNA so umgewandelt, dass Methylcytosin, welches ursprünglich durch sein Hybridisierungsverhalten vom Cytosin nicht unterschieden werden kann, jetzt durch „normale" molekularbiologische Techniken als einzig verbliebenes Cytosin beispielsweise durch Amplifikation und Hybridisierung oder Sequenzierung nachgewiesen werden kann. Der Stand der Technik, was die Empfindlichkeit betrifft, wird durch ein Verfahren definiert, welches die zu untersuchende DNA in einer Agarose-Matrix einschließt, dadurch die Diffusion und Renaturierung der DNA (Bisulfit reagiert nur an einzelsträngiger DNA) verhindert und alle Fäl- lungs- und Reinigungsschritte durch schnelle Dialyse ersetzt (Olek, A. et al., Nucl. Acids. Res. 1996, 24, 5064-5066). Mit dieser Methode können einzelne Zellen untersucht werden, was das Potential der Methode veranschaulicht. Allerdings werden bisher nur einzelne Regionen bis etwa 3000 Basenpaare Länge untersucht, eine globale Untersuchung von Zellen auf Tausenden von möglichen Methylierungsanalysen ist nicht möglich. Allerdings kann auch dieses Verfahren keine sehr kleinen Fragmente aus geringen Probenmengen zuverlässig analysieren. Diese gehen trotz Diffu- sionsschutz durch die Matrix verloren.

Eine Übersicht über die weiteren bekannten Möglichkeiten, 5-Methylcytosine nachzuweisen, kann aus dem folgenden Übersichtsartikel entnommen werden: Rein, T., DePamphilis, M. L., Zorbas, H., Nucleic Acids Res. 1998, 26, 2255.

Die Bisulfit-Technik wird bisher bis auf wenige Ausnahmen (z. B. Zechnigk, M. et al., Eur. J. Hum. Gen. 1997, 5, 94-98) nur in der Forschung angewendet. Immer aber werden kurze, spezifische Stücke eines bekannten Gens nach einer Bisulfit- Behandlung amplifziert und entweder komplett sequenziert (Olek, A. und Walter, J., Nat. Genet. 1997, 17, 275-276) oder einzelne Cytosin-Positionen durch eine „Primer- Extension-Reaktion" (Gonzalgo, M. L. und Jones, P. A., Nucl. Acids Res. 1997, 25, 2529-2531, WO-Patent 9500669) oder einen Enzymschnitt (Xiong, Z. und Laird, P. W., Nucl. Acids. Res. 1997, 25, 2532-2534) nachgewiesen. Zudem ist auch der Nachweis durch Hybridisierung beschrieben worden (Olek et al., WO 9928498).

Weitere Publikationen, die sich mit der Anwendung der Bisulfit-Technik zum Me- thylierungsnachweis bei einzelnen Genen befassen, sind: Xiong, Z. und Laird, P. W. (1997), Nucl. Acids Res. 25, 2532; Gonzalgo, M. L. und Jones, P. A. (1997), Nucl. Acids Res. 25, 2529; Grigg, S. und Clark, S. (1994), Bioassays 16, 431; Zeschnik, M. et al. (1997), Human Molecular Genetics 6, 387; Teil, R. et al. (1994), Nucl. Acids Res. 22, 695; Martin, V. et al. (1995), Gene 157, 261; WO 9746705, WO 95 15373 und WO 45560.

Eine Übersicht über den Stand der Technik in der Oligomer Array Herstellung läßt sich aus einer im Januar 1999 erschienenen Sonderausgabe von Nature Genetics (Na- ture Genetics Supplement, Volume 21, January 1999), der dort zitierten Literatur und dem US-Patent 5994065 über Methoden zur Herstellung von festen Trägern für Zielmoleküle wie Oligonukleotide bei vermindertem nichtspezifischem Hintergrundsignal entnehmen.

Für die Abtastung eines immobilisierten DNA-Arrays sind vielfach fluoreszent markierte Sonden verwendet worden. Die Detektion der Fluoreszenz der hybridisierten Sonden erfolgt beispielsweise über eine Konfokaloptik.

Neuere Verfahren zum Nachweis von Mutationen, die prinzipiell nach der Bisulphit- Behandlung der DNA-Probe mit einigen Modifikationen auch zur Methylierungsana- lyse eingesetzt werden können, sind im folgenden aufgeführt:

Als ein Spezialfall der Sequenzierung ist die Einzelbasen-Primer-Erweiterung (Gene- tic Bit Analysis) erwähnenswert (Head, SR., Rogers, YH., Parikh K., Lan, G., Anderson, S., Goelet, P., Boycejacino MT., Nucleic Acids Research. 25(24): 5065- 5071, 1997; Picoult-Newberg, L., Genome Res. 9(2): 167-174, 1999). Eine kombinierte Amplifikation und Sequenzierung wird in US-Patent 5928906 beschrieben, wo eine basenspezifische Terminierung auf Matrixmolekülen eingesetzt wird. Ein weiteres Verfahren setzt eine Ligase/Polymerasereaktion für die Identifikation von Nukle- otiden ein (US-Patent 5952174).

Genomische DNA wird durch Standardmethoden aus DNA von Zeil-, Gewebe- oder sonstigen Versuchsproben gewonnen. Diese Standardmethodik findet sich in Referenzen wie Fritsch und Maniatis eds., Molecular Cloning: A Laboratory Manual, 1989.

Gegenwärtig ist es nicht Stand der Technik, grosse Mengen von Proben hinsichtlich einer Vielzahl von für Krankheiten bedeutsamen Methylierungspositionen zu untersuchen.

Aufgabe der vorliegenden Erfindung ist es, Sätze von Oligomersonden, welche an Gene binden, die für nachteilige Ereignisse für Patienten oder bestimmte Krankheitsgruppen von Bedeutung sind, so zusammenzustellen, dass umfassende prognostische Aussagen für den jeweiligen Patienten durch Analyse des jeweiligen Methylierungs- zustandes dieser Gene möglich werden. Die dabei erfassten Daten werden zu Methy- lierungsmustern zusammengefasst. Des weiteren soll ein Verfahren geschaffen werden, welches die Analyse von Methylierungspositionen in grossem Umfang unter Verwendung der erwähnten Oligomersonden ermöglicht.

Die Aufgabe wird erfindungsgemäss durch einen Satz von Nukleotidsonden und ein Verfahren zur Untersuchung des Methylierungsprofils eines Patienten oder Individuums. Mit Hilfe des Satzes von Oligonukleotidsonden und/oder des Verfahrens wird das Vorhandensein oder Fehlen der relevanten Methylierungsvarianten aus der Zielgruppe der Gene nachgewiesen. Aus dem Methylierungsmuster ergibt sich durch Abgleich mit Methylierungsmustern in einer Datenbank, welche bereits bestimmten Phänotypen, Prognosen oder Effekten auf den Patienten zugeordnet sind, eine Diagnose. Diese Aufgabe wird erfindungsgemäß durch einen Satz von Nukleotidsonden gemäss einem oder mehrerer der Ansprüche gelöst. Weiterhin kann zur Lösung der Aufgabe ein Verfahren oder eine Vorrichtung genutzt werden, welche einen Satz der erwähnten Nukleotidsonden enthält. Vorteilhafte Ausführungen der Erfindung sind in den jeweiligen Unteransprüchen gekennzeichnet.

Der erfindungsgemässe Satz von Oligonukleotidsonden oder eine Vorrichtung welche diesen enthält dient vorzugsweise zur Prognose und Behandlungsplanung bei Patienten, die an den Konsequenzen von folgenden nachteiligen Ereignissen leiden oder bei welchen das Risiko des Eintritts von folgenden nachteiligen Ereignissen besteht:

unerwünschte Arzneimittelwirkungen Krebserkrankungen

CNS-FeUfunktionen, Schäden oder Krankheit aggressive Symptome oder Verhaltensstörungen klinische, psychologische und soziale Konsequenzen von Gehirnverletzungen psychotische Störungen und Persönlichkeitsstörungen Demenz und/oder assoziierte Syndrome kardiovaskuläre Krankheit, FeMfunktion und Schädigung Fehlfiinktion, Schädigung oder Krankheit des gastrointestinalen Traktes FeWfunktion, Schädigung oder Krankheit des Atmungssystems Verletzung, Entzündung, Infektion, Immunität und/oder Rekonvaleszenz Fehlfunktion, Schädigung oder Krankheit des Körpers als Abweichung im Ent- wicklungsprozess

FeMfunktion, Schädigung oder Krankheit der Haut, der Muskeln, des Bindegewebes oder der Knochen endokrine und metabolische FeWfunktion, Schädigung oder Krankheit Kopfschmerzen oder sexuelle FeMfunktion. Diese Aufzählung ist nicht abschliessend und dem Fachmann ist klar, dass mittels der erfinderischen Idee jede Erkrankung oder FeMfunktion eines Organismus oder Individuums anwendbar ist.

Die Oligomersonden umfassen Sequenzen, welche an die Gene binden, die mit diesen nachteiligen Ereignissen in Zusammenhang stehen. Die Oligomersonden binden an die Sequenzen, wie sie nach einer Behandlung der DNA-Probe vorliegen, welche nicht methyliertes Cytosin in Uracil umwandelt. Die Gene sind in den Ansprüchen detailliert aufgeführt. Erfϊndungsgemäss gehören diese Gene zu mindestens einer der folgenden Proteinftinktionen: Enzyme, Transport, Lagerung, Struktur, Immunität, nervale Transmission, Wachstum und Differenzierung.

In folgenden wird das Verfahren beschrieben, dass für eine Bewertung, ob bei einem Patienten, einem Individuum oder einer Bevölkerungsgruppe nachteilige Ereignisse eintreten werden oder wahrscheinlich eintreten werden, den Satz der Oligomersonden verwendet. Im ersten Schritt entnimmt man eine DNA-Probe von Patienten oder Individuen, bei welchen ein nachteiliges Ereignis diagnostiziert wurde bzw. in der Kontrollgruppe nicht diagnostiziert wurde. Die mittels der Lösung eines Bisulfits, Hydrogensulfits oder Disulfits vorbehandelten DNA-Proben werden im zweiten Schritt des Verfahrens zum Nachweis von relevanten Genvarianten hinsichtlich der DNA-Methylierung mit einen Satz von Oligonukleotiden als Sonden hybridisiert, die innerhalb der jeweiligen Zielgruppe von Genen an nach der Bisulfitbehandlung vorliegende Sequenzen binden, in denen eine Cytosin Methylierung potentiell vorliegen kann. Es ergibt sich ein Hybridisierungsmuster, welches im dritten Schritt des Verfahrens in ein Methylierungsmuster der Gene der jeweiligen DNA- Probe übersetzt wird.

Gleichermassen würde man vorgehen, wollte man ein Modell zur Bewertung von Risiken für Patienten oder Patientengruppen erarbeiten.

Erfindungsgemäss gehören diese Gene zu mindestens einer der folgenden Proteinfunktionen: Enzyme, Transport, Lagerung, Struktur, Immunität, nervale Transmissi- on, Wachstum und Differenzierung. Die besagten Gene stehen in Zusammenhang mit einer Vielzahl von nachteiligen Ereignissen, dazu gehören:

unerwünschte Ar__neimittelwirkungen Krebserkiankungen

ZNS-FeMfunktionen, Schäden oder Krankheit aggressive Symptome oder Verhaltensstörungen klinische, psychologische und soziale Konsequenzen von Gehirnverletzungen psychotische Störungen und Persönlichkeitsstörungen Demenz und/oder assoziierte Syndrome kardiovaskuläre Krankheit, Fehlfunktion und Schädigung FeMfunktion, Schädigung oder Krankheit des gastrointestinalen Traktes FeMfunktion, Schädigung oder Krankheit des Atmungssystems Verletzung, Entzündung, Infektion, Immunität und/oder Rekonvaleszenz FeMfunktion, Schädigung oder Krankheit des Körpers als Abweichung im Ent- wicklungsprozess

FeMfunktion, Schädigung oder Krankheit der Haut, der Muskeln, des Bindegewebes oder der Knochen endokrine und metabolische FeMfunktion, Schädigung oder Krankheit Kopfschmerzen oder sexuelle FeMfunktion.

Die Oligonukleotidsonden sind dadurch gekennzeichnet, dass sie zu DNA- Sequenzen der Zielgruppe von Genen komplementär sind oder ihnen entsperechen, wie sie nach einer chemischen Behandlung vorliegt, welche nicht methylierte Cyto- sine in Uracil umwandelt, vorzugsweise eine Behandlung mit Natriumbisulfit.

Im letzten Schritt des Verfahrens wird die Häufigkeit der Allele mit unterscMedli- chem Methylierungsmuster berechnet und die Häufigkeiten der Allele bei Patienten und Individuen mit nachteiligen Ereignissen und der entsprechenden Kontrollgruppe verglichen. Bevorzugt wird mindestens einer der Schritte des Verfahrens mit einem Computer ausgeführt.

In einer bevorzugten Variante des VerfaMens wird das Methylierungsmuster eines Individuums wird mit den bereits in der Datenbank vorhandenen Einträgen oder einem daraus aubgeleiteten Modell verglichen, um daraus das Risiko des Eintritts von nachteiligen Ereignissen zu bewerten.

Der Satz von Oligonukleotiden besteht bevorzugt aus Oligonukleotiden, die an bekannten Orten in einem rechtwinkligen oder hexagonalen Raster auf einem Träger angeordnet sind. Dieser Träger besteht aus Silizium, Glas, Polystrol, Alumimum, StaM, Eisen, Kupfer, Nickel, Silber oder Gold.

Zum Nachweis der Genvarianten Mnsichtlich Methylierung und unterscMedlicher Genexpression wird bevorzugt eine medizintechnische Vorrichtung verwendet, welche den besagten Satz von Oligonukleotiden enthält.

In einer bevorzugten Variante des Verfahrens verwendet man einen besagten Oligo- nukleotidsatz oder eine Vorrichtung, die selbigen enthält, zur Vorhersage wahr- schemlicher therapeutischer Folgen oder nachteiliger Ereignisse infolge einer therapeutischen Intervention oder infolge der Einnahme spezifischer Medikamente.

In einer bevorzugten Variante des Verfahrens verwendet man einen besagten Oligo- nukleotidsatz oder eine Vorrichtung zur Vorhersage wahrschemlicher Symptome bei Eintritt der oben aufgeführten nachteiligen Ereignisse und der WahrscheiMichkeit des Auftretens von Folgekrankheiten bzw. weiteren Symptomen.

In einer weiteren bevorzugten Variante des Verfahrens verwendet man einen besagten Oligonukleotidsatz oder eine Vorrichtung für folgende Ziele:

• Entwicklung neuer Strategien bei der therapeutischen Intervention und in klim- schen Studien • Modellierung und Bewertung der Auswirkung von Krankheiten und Gesundheits- vorsagemaßnahmen auf Individuen, Bevölkerungsgruppen, Patientengruppen und Populationen

• Optimierung der therapeutischen Intervention

Weiterer Gegenstand der vorliegenden Erfindung ist ein Kit zur Ditrchführung eines Assays, mit dem man das Risiko eines Patienten oder Individuums einschätzen kann, nachteilige Ereignisse zu erfahren. Dieses Kit umfasst Testmögliclikeiten auf Anwesenheit oder Abwesenheit von relevanten Variationen hinsichtlich DNA- Methylierung der oben aufgeführten Gene in einer Probe von genomischer DNA. Reagenzien für den Gebrauch im Detektionsverfahren sind ebenso enthalten, wie ein Script, das die WahrscheiMichkeit eines Patienten oder Individuums beschreibt, unerwünschte Ereignisse zu erfahren.

Die Aufgabe der Erfindung wird also gelöst durch einen Satz von Oligonukleotiden als Sonden zur Detektion relevanter Variationen der DNA Methylierung in einer Zielgruppe von Genen, dadurch gekennzeichnet, dass die Oligonukleotide zur DNA- Sequenz der Zielgruppe von Genen komplementär sind oder ihnen entsprechen, wie sie nach einer chemischen Behandlung, welche nicht methylierte Cytosine in Uracil umwandelt, vorliegen, wobei die Zielgruppe im wesentlichen Gene umfasst, welche mit einer gesundheitlichen Beeinträchtigung eines Individuums in Zusammenhang stehen.

Es ist erfindungsgemäß bevorzugt, dass der Satz von Oligonukleotiden dadurch gekennzeichnet ist, dass die gesundheitlichen Beeinträchtigungen unerwünschte Arzneimittelwirkungen; Krebs; CNS-FeMfunktionen, Schädigung oder Krankheit; agres- sive Symptome oder Verhaltenstörungen; klinische, psychologische und soziale Konsequenzen einer Gehirnverletzung; Demenz und/oder assoziierte Syndrome; psychotische Störungen und PersöMichkeitsstörungen; kardiovaskuläre Krankheit, FeMfunktion oder Schädigung; FeMfiinktion, Schädigung oder Erkrankung des Gastroin- testinaltrakts; Schädigung oder Erkrankung des Atmungssystems; Verletzung, Entzündung, Infektion, Immunität und/oder Rekonvaleszenz; FeMfunktion, Schädigung oder Erlαankung des Körpers als Folge einer Abweichung im Entwicklungsprozess, FeMfunktion, Schädigung oder Krankheit der Haut, der Muskeln, des Bindegewebes oder der Knochen; endokrine und metabolische FeMfunktion; Kopfschmerzen; sexuellen FeMfunktionen sind.

WeiterMn bevorzugt ist es, dass der Satz von Oligonukleotiden dadurch gekennzeichnet ist, dass die mit unerwünschten Arzneimittelwirkungen in Zusammenhang stehenden Gene ausgewäMt sind aus Tabelle 1, die mit Krebs in Zusammenhang stehenden Gene ausgewäMt sind aus Tabelle 2, die mit Symptomen und Konsequenzen von CNS-FeMfunktion in Zusammenhang stehenden Gene ausgewäMt sind aus Tabelle 3, die mit aggressiven Symptomen oder Verhaltensstörungen in Zusammenhangstehenden Gene ausgewäMt sind aus Tabelle 4, die mit den Folgen von klinischen, psychologischen und sozialen Konsequenzen einer GeMrnverletzung in Zusammenhang stehenden Gene ausgewäMt sind aus Tabelle 5, die mit mit Demenz und/oder assoziierten Syndromen in Zusammenhang stehenden Gene ausgewäMt sind aus Tabelle 6, die mit psychotischen Störungen und PersöMichkeitsstörungen in Zusammenhang stehenden Gene ausgewäMt sind aus Tabelle 7, die mit kardiovaskulärer Krankheit, FeMfunktion oder Schädigung in Zusammenhang stehenden Gene ausgewäMt sind aus Tabelle 8, die mit FeMfunktion, Schädigung oder Erkrankung des Gastrointestinaltrakts in Zusammenhang stehenden Gene ausgewäMt sind aus Tabelle 9, die mit FeMfunktion, Schädigung oder Erkrankung des Atmungssystems in Zusammenhang stehenden Gene ausgewäMt sind aus Tabelle 10, die mit Verletzung, Entzündung, Infektion, Immunität und/oder Rekonvaleszenz in Zusammenhang stehenden Gene ausgewäMt sind aus Tabelle 11, die mit FeMfunktion, Schädigung oder Erkrankung des Körpers als Folge einer Abweichung im Entwicklungsprozess in Zusammenhang stehenden Gene ausgewäMt sind aus Tabelle 12, die mit einer FeMfunktion, Schädigung oder Erkrankung der Haut, der Muskeln, des Bindegewebes oder der Knochen in Zusammenhang stehenden Gene ausgewäMt sind aus Tabelle 13, die mit endokriner und metabolischer FeMfunktion, Schädigung oder Erkrankung in Zusammenhang stehenden Gene ausgewäMt sind aus Tabelle 14, die mit Kopfschmerzen in Zusammenhang stehenden Gene ausgewäMt sind ausTabelle 15 und die mit sexuellen FeMfunktionen in Zusammenhang stehenden Gene ausgewäMt sind aus Tabelle 16.

Erfindungsgemäß bevorzugt ist ein Satz von Oligonukleotiden, in dem Oligonukleo- tide mit bis zu 5% der aufgeführten Gene nicht enthalten sind.

Insbesondere bevorzugt ist ein Satz von Oligonukleotiden, in dem Oligonukleotide mit mindestens 95% der aufgeführten Gene zusammen mit einer begrenzten AnzaM zusätzlicher nicht aufgeführter Oligonukleotide enthalten sind.

Vorteilhaft ist ein Satz von Oligonukleotiden, in dem bis zu 5 % der entsprechenden Oligonukleotide der aufgeführten Gene durch einen kompletten Satz von 25% anderer mcht aufgeführter Oligonukleotide ersetzt sind.

WeiterMn vorteilhaft ist ein Satz von Oligonukleotiden für eine Zielgruppe von Genen, in welcher die chemisch vorbehandelte DNA Sequenz der nachzuweisenden Gene mindestens zu 95% mit der entsprechend vorbehandelten DNA Sequenz der Gene aus obiger Liste übereinstimmt.

Besonders vorteilhaft ist ein Satz von Oligonukleotiden, wobei die chemische Vorbehandlung mittels der Lösung eines Bisulfits, Hydrogensulfits oder Disulfits durchgeführt wird.

Insbesondere vorteilhaft ist ein Satz von Oligonukleotiden bestehend aus einer Untergruppe der Zielgruppe von Genen.

Erfindungsgemäß bevorzugt ist Satz von Oligonukleotiden, in welchem die Oligonukleotide an bekannten Orten in einem rechtwinkligen oder hexagonalen Raster auf einem Träger angeordnet sind.

WeiterMn bevorzugt ist ein Satz von Oligonukleotiden, wobei die Oligonukleotide auf einem Träger angeordnet sind, welcher aus Silizium, Glas, Polystyrol, Alumim- um, StaM, Eisen, Kupfer, Nickel, Silber oder Gold besteht. Besonders bevorzugt ist ein Satz von, wobei die Oligonukleotidsonden über ihre Masse, Elektrostatik, Ladung oder Fluoreszenz oder mit Radionukleotiden markiert sind.

Insbesondere bevorzugt ist die Verwendung eines Satzes von Oligonukleotiden, in einer biologischen Untersuchung zum Nachweis besagter Genvarianten Mnsichtlich der DNA-Methylierung.

Vorteilhaft ist eine medizintechnische Vorrichtung, welche einen erfindungsgemäßen Oligonukleotidsatz enthält, zur Verwendung in einer Untersuchung zum Nachweis besagter Genvarianten, insbesondere als Indikation für ein höheres Risiko eines Patienten oder Individuums, Symptome und Folgeerscheinungen von Krebs zu entwickeln oder als Indikation für ein höheres Risiko der Entwicklung von CNS- FeMftinktion, Beschädigung oder Krankheit oder für den Patienten oder das Individuum, Symptome und Konsequenzen von CNS-FeMfunktion, Beschädigung oder Krankheit zu erfahren.

Insbesondere vorteilhaft ist eine medizintechmsche Vorrichtung, welche einen erfindungsgemäßem Oligonukleotidsatz enthält, zur Verwendung in einer Untersuchung zum Nachweis unterscMedlicher Genexpression und/oder zur Prognose und zum Management von Patienten, die an dem Risiko leiden, Symptome und Folgeerscheinungen von Krebs zu entwickeln und/oder zur Verwendung in einer Untersuchung, ob ein Patient oder Individuum möglicherweise CNS-FeMfunktion, Beschädigung oder Krankheit entwickelt oder für den Patienten oder das Individuum die Wahr- schemlichkeit besteht, Symptome und Konsequenzen von CNS-FeMfunktion, Beschädigung oder Krankheit zu erfahren.

Erfindungsgemäß bevorzugt ist ein Verfahren zur Untersuchung des DNA Methylie- rungsprofils eines Patienten oder Individuums, welche das Vorhandensein oder Fehlen der relevanten Methylierungsvarianten aus der Zielgruppe von Genen nachweist, indem eine chemisch vorbehandelte Nukeinsäureprobe von besagtem Patienten oder Individuum an einen erfindungsgemäß en Oligonukleotidsatz hybridisiert wird und das Hybridisierungsmuster mit den Variationen in Beziehung gesetzt wird. Besonders bevorzugt ist Verwendung eines erfindungsgemäßen Satzes von Oligonukleotiden oder einer erfindungsgemäßen Vorrichtung zur Prognose und/oder Behandlungsplanung bei Patienten, die an einer gesundheitlichen Beeinträchtigung lei- den oder bei denen das Risiko des Eintritts einer gesundheitlichen Beeinträchtigung besteht.

Insbesondere vorteilhaft ist die erfindungsgemäße Verwendung, zur Prognose und/oder Behandlungsplanung bei Patienten, die an den Folgen von unerwünschten Arzneimittelwirkungen leiden oder bei welchen das Risiko des Eintritts von unerwünschten Arzneimittelwirkungen besteht, die an dem Risiko zur Entwicklung von Symptomen und Folgeerscheinungen von Krebs leiden, die von einem erhöhten Risiko von CNS-FeMfunktion, Beschädigung oder Krankheit betroffen sind, die an den Folgen von aggressiven Symptomen oder Verhaltensstörungen leiden oder bei welchen das Risiko des Eintritts von aggressiven Symptomen oder Verhaltensstörungen besteht, die an den Folgen von klinischen, psychologischen und sozialen Konsequenzen einer GeMrnverletzung leiden oder bei welchen das Risiko des Eintritts von Folgen von klimschen, psychologischen und sozialen Konsequenzen einer GeMrnverletzung besteht, die an Demenz und/oder assoziierten Syndromen leiden oder bei welchen das Risiko des Eintritts von Demenz und/oder assoziierten Syndromen besteht, die an Symptomen und Folgen von psychotischen Störungen und PersöMichkeitsstö- rungen leiden oder bei welchen das Risiko des Eintritts von psychotischen Störungen und PersöMichkeitsstörungen besteht, die an den Symptomen oder Konsequenzen von kardiovaskulärer Krankheit, FeMfunktion oder Schädigung leiden oder bei welchen das Risiko des Eintritts von Symptomen oder Konsequenzen von kardiovaskulärer Krankheit, FeMfunktion oder Schädigung besteht, die an den Symptomen und Konsequenzen von FeMfunktion, Schädigung oder Erl ankung des Gastrointesti- naltrakts leiden oder bei welchen das Risiko des Eintritts von Symptomen und Konsequenzen von FeMfunktion, Schädigung oder Erkrankung des Gastrointestinaltrakts besteht, die klinische oder soziale Konsequenzen erfahren, die sich aus FeMfunktion, Schädigung oder Erkrankung des Atmungssystems ergeben oder bei welchen das Risiko von klimschen oder sozialen Konsequenzen besteht, die sich aus FeMfunktion, Schädigung oder Erkrankung des Atmungssystems, die an Symptomen und Folgen von Verletzung, Entzündung, Infektion, Immunität und/oder Rekonvaleszenz leiden oder bei welchen das Risiko des Eintritts von Symptomen und Folgen von Verletzung, Entzündung, Infektion, Immunität und/oder Rekonvaleszenz besteht, die an den Folgen von FeMfunktion, Schädigung oder Krankheit des Körpers als Folge einer Abweichung im Entwicklungsprozess leiden oder bei welchen das Risiko des Eintritts von FeMfunktion, Schädigung oder Krankheit des Körpers als Folge einer Abweichung im Entwicklungsprozess besteht, die an den Folgen von einer FeMfunk- tion, Schädigung oder Krankheit der Haut, der MuskeM, des Bindegewebes oder der Knochen leiden oder bei welchen das Risiko des Eintritts von einer FeMfunktion, Schädigung oder Krankheit der Haut, der Muskeln, des Bindegewebes oder der Knochen besteht, die an den Folgen von endokriner und metabolischer FeMfunktion, Schädigung oder Krankheit leiden oder bei welchen das Risiko des Eintritts von endokriner und metabolischer FeMfunktion, Schädigung oder Krankheit besteht, die an den Folgen von Kopfschmerzen leiden oder bei welchen das Risiko des Eintritts von Kopfschmerzen besteht und/oder die an den Folgen von sexuellen FeMfiinktionen leiden oder bei welchen das Risiko des Eintritts von sexuellen FeMfunktionen besteht.

Bevorzugt ist die Verwendung eines erfindungsgemäßen Satzes von Oligonukleotiden oder einer erfindungsgemäßen Vorrichtung zur Vorhersage wahrschemlicher therapeutischer Folgen von unerwünschten Arzneimittelwirkungen infolge einer therapeutischen Intervention und/oder zur Vorhersage wahrschehilicher therapeutischer Folgen und nachteiliger Ergebmsse infolge einer therapeutischen Intervention.

WeiterMn bevorzugt ist die Verwendung eines erfindungsgemäßen Satzes von Oligonukleotiden oder einer erfindungsgemäßen Vorrichtung zur Vorhersage wahr- schemlicher therapeutischer Risiken oder von unerwünschten Arzneimittelwirkungen infolge der Einnahme spezifischer Medikamente.

Insbesondere bevorzugt Verwendung eines erfindungsgemäßen Satzes von Oligonukleotiden oder einer erfindungsgemäßen Vorrichtung zur Vorhersage wahrscheinlicher Symptome bei Eintritt von unerwünschten Arzneimittelwirkungen und der Wahrschemlichkeit des Auftretens von Folgekrankheiten bzw. weiteren Symptomen und oder zur Vorhersage wahrschemlicher Muster von Krankheitssymptomen und der WahrscheiMichkeit des Auftretens von Folgekrankheiten bzw. weiteren Symptomen.

Vorteilhaft ist die Verwendung eines erfindungsgemäßen Satzes von Oligonukleotiden oder einer erfindungsgemäßen Vorrichtung für die Entwicklung neuer Strategien bei der therapeutischen Intervention und in klinischen Studien und/oder für die Prognose oder das Management von Patienten, die an sich entwickelnden aggressiven Symptomen oder Verhaltensstörungen leiden oder für besagte Störungen zur Risikogruppe gehören und/oder zur Modellierung und Bewertung der Auswirkung von Krankheiten und Gesundheitsvorsorgemaßnahmen auf Individuen, Bevölkerungsgruppen, Patientengruppen und Populationen und/oder zur Generierung eines Models, um das Risiko für Individuen, Bevölkerungsgruppen, Patientengruppen und Populationen einzuschätzen, Symptome und Folgeerscheinungen von Krebs zu entwickeln und/oder zur Generierung eines Models zur Bewertung des Risikos der Entwicklung von Symptomen und Folgerscheinungen von CNS-FeMfunktion, Beschädigung oder Krankheit und/oder zur Optimierung der therapeutischen Intervention.

Insbesondere vorteilhaft ist ein VerfaMen zur Erstellung eines Modells zur Bewertung, ob bei einem Patienten, einem Individuum oder einer Bevölkerungsgruppe eine gesundheitliche Beeinträchtigungen eintreten werden oder wahrschemlich eintreten werden, welches folgende Schritte umfasst: a) man entnimmt eine DNA Probe von Patienten oder Individuen, bei welchen eine gesundheitliche Beeinträchtigung diagnostiziert wurde; b) man entnimmt eine DNA Probe aus einer Kontrollgruppe von Individuen, bei welchen diagnostisch das Vorliegen dieser gesundheitlichen Beeinträchtigung ausge- scMossen wurde; c) man analysiert die in a) und b) erhaltenen Proben zur Bestimmung der DNA Me- thylierungsvariation innerhalb der erfindungsgemäßen Zielgruppe von Genen gemäß; d) man berechnet die Häufigkeit der Allele mit unterscMedlichem Methylierungsmuster in den Proben aus a) und b); e) man vergleicht die Häufigkeiten der Allele in den Proben aus a) und b), f) man führt eine statistische Analyse der unter e) erhalten Ergebmsse durch um ein Modell zur Bewertung des Risikos des Eintritts gesundheitlicher Beeinträchtigungen zu erhalten.

Bevorzugt ist ein erfindungsgemäßes Verfahren, wobei die gesundheitliche Beeinträchtigung ausgewäMt ist aus: unerwünschten Arzneimittelwirkungen; Krebs; Symptomen und Folgerscheinungen von CNS-FeMfunktion, Beschädigung oder Krankheit; sich entwickelnde aggressive Symptome oder Verhaltensstörungen; Folgen von klinischen, psychologischen und sozialen Konsequenzen einer GeMrnverletzung; Demenz und/oder assoziierte Syndrome; psychotische Störungen und PersöMich- keitsstörungen; Symptome oder Konsequenzen von kardiovaskulärer Krankheit, FeMfunktion oder Schädigung; Symptome und Konsequenzen von FeMfiinktion, Schädigung oder Erkrankung des Gastrointestinaltrakts; FeMfunktion, Schädigung oder Erkrankung des Atmungssystems; Symptome und Folgen von Verletzung, Ent- zündung, Infektion, Immumtät und/oder Rekonvaleszenz; FeMfunktion, Schädigung oder Krankheit des Körpers als Folge einer Abweichung im Entwicklungsprozess; FeMfunktion, Schädigung oder Krankheit der Haut, der MuskeM, des Bindegewebes oder der Knochen; endokrine und metabolische FeMfunktion, Schädigung oder &ankheit; Kopfschmerzen; sexuelle FeMfunktionen.

Vorteilhaft ist ein Verfahren zur Bewertung, ob ein bestimmtes Individuum das Risiko des Eintritts gesundheitlicher Beeinträchtigungen trägt, wobei man das Methylie- rungsprofil mit dem erfindungsgemäß erstellten Modell vergleicht.

Besonders vorteilhaft ist ein Verfahren gemäß, wobei mindestens einer der Schritte von einem Computer ausgeführt wird.

Weiterhin vorteilhaft ist ein gestalteter Assay für die Nutzung der Einschätzung des Risikos eines Patienten oder Individuums nachteilige Ereigmsse und/oder gesundheitliche Beeinträchtigungen zu erfahren, besagtes Kit beinhaltend: a) Testmögliclikeiten auf Anwesenheit oder Abwesenheit von verscMüsselten relevanten polymorphen DNA- Variationen der erfindungsgemäßen Kerngruppe von Genen, in einer Probe von genomischer DNA. b) Reagenzien für den Gebrauch im Detektionsverfahren. c) Script, das die Wahrscheuilichkeit eines Patienten oder Individuums beschreibt, unerwünschte Ereignisse und/oder gesundheitliche Beeinträchtigungen zu erfahren.

Insbesondere vorteilhaft ist ein gestalteter Assay für die Nutzung Einschätzung des Risikos eines Patienten oder Individuums nachteilige Ereignisse und/oder gesundheitliche Beeinträchtigungen, dadurch gekennzeichnet, dass das nachteilige Ereignis oder die gesundheitliche Beeinträchtigung ausgewäMt ist aus: unerwünschten Arzneimittelwirkungen; Krebs; Symptomen und Folgerscheinungen von CNS- FeMfunktion, Beschädigung oder Krankheit; sich entwickelnde aggressive Symptome oder Verhaltensstörungen; Folgen von klinischen, psychologischen und sozialen Konsequenzen einer Gehirnverletzung; Demenz und/oder assoziierte Syndrome; psychotische Störungen und PersöMichkeitsstörungen; Symptome oder Konsequenzen von kardiovaskulärer Krankheit, FeMfunktion oder Schädigung; Symptome und Konsequenzen von FeMfunktion, Schädigung oder Erkrankung des Gastrointesti- naltrakts; FeMfunktion, Schädigung oder Erkrankung des Atmungssystems; Symptome und Folgen von Verletzung, Entzündung, Infektion, Immunität und/oder Re- konvaleszenz; FeMfunktion, Schädigung oder Krankheit des Körpers als Folge einer Abweichung im Entwicklungsprozess; FeMfunktion, Schädigung oder Krankheit der Haut, der Muskeln, des Bindegewebes oder der Knochen; endokrine und metaboli- sche FeMfunktion, Schädigung oder Krankheit; Kopfschmerzen; sexuelle FeMfunk- tionen.

Tabelle 1 unerwünschte Arzneimittelwirkung

Liste der Gene HUGO Protein-

Gensymbol funktion

5-Adenosyl homocysteine hydrolase 1

Acetoacetyl 1-CoA-tMolase ACAT1 1

Acetoacetyl 2-CoA-tMolase ACAT2 1

Acetyl CoA acyltransferase ACAN 1

Acetylcholine receptor, nicotimc, alpha AI CHRΝA1 5

Acetylcholine receptor, nicotimc, alpha A2 CHRΝA2 5

Acetylcholine receptor, nicotimc, alpha A3 CHRNA3 5

Acetylcholine receptor, nicotinic, alpha A4 CHRNA4 5

Acetylcholine receptor, nicotimc, alpha A5 CHRNA5 5

Acetylcholine receptor, nicotinic, alpha A6 CHRNA6 5

Acetylcholine receptor, nicotinic, alpha A7 CHRNA7 5

Acetylcholine receptor, nicotimc, beta 1 CHRNB1 5

Acetylcholine receptor, mcotimc, beta 2 CHRNB2 5

Acetylcholine receptor, nicotimc, beta 3 CHRNB3 5

Acetylcholine receptor, mcotimc, beta 4 CHRNB4 5

Acetylcholine receptor, nicotinic, epsilon CHRNE 5

Acetylcholine receptor, nicotimc, gamma CHRNG 5

Acetylcholinesterase ACHE 1

Actin, alpha, cardiac ACTC 3

Actin, alpha, skeletal ACTA1 3

Actin, alpha, smooth, aortic ACTA2 3

Actin, beta ACTB 3

Actin, gamma 2 ACTG2 3

Acyl CoA dehydrogenase, short chain ACADS 1

Adenine phosphoribosyltransferase APRT 2

Adenosine deaminase ADA 1

Adenosine monophosphate deaminase AMPD 1

Adenosine receptor AI ADORA1 5

Adenosine receptor A2A ADORA2A 5

Adenosine receptor A2B ADORA2B 5

Adenosine receptor A3 ADORA3 5

Adenylate cyclase.1 ADCY1

Adenylate cyclase 2 ADCY2

Adenylate cyclase 3 ADCY3

Adenylate cyclase 4 ADCY4

Adenylate cyclase 5 ADCY5

Adenylate cyclase 6 ADCY6

Adenylate cyclase 7 ADCY7

Adenylate cyclase 8 ADCY8

Adenylate cyclase 9 ADCY9

Adenylate kinase AK1 Adenylate transferase 1

Adenylosuccinate lyase ADSL 1

ADP-ribosyltransferase ADPRT 1

Ndrenergic receptor, alphal ADRA1 5

Ndrenergic receptor, alpha2 ADRA2 5

Ndrenergic receptor, betal ADRB1 5

Ndrenergic receptor, beta2 ADRB2 5

Ndrenergic receptor, beta3 ADRB3 5

NdrenocorticotropMc hormone (ACTH) ACTHR 6 receptor

Adrenoleukodystrophy gene ALD 1

Albumin, ALB ALB 2

Alkaptonuria gene AKU 6

Alpha I acid glycoprotein AAG, AGP 2

Alpha-1-antitrypsin PI 1

Alpha-2-antiplasmin PLI 1

Alpha-amylase 1

Alpha-fetoprotein AFP 6

Alpha-glucosidase, neutral AB GAΝAB 1

Alpha-glucosidase, neutral C GAΝC 1

Aminomethyltransferase AMT 1

Aminopeptidase P XPΝPEP2 1

Amyloid beta (A4) precursor protein-binding, APBB1 5

APBB1

Amyloid beta (A4) precursor protein APP 5

Androgen binding protein ABP 2

Androgen receptor AR 6

Angiotensin converting enzyme ACE, DCP1 1

Angiotensin receptor 1 AGTR1 2

Angiotensin receptor 2 AGTR2 2

Angiotensinogen AGT 1

Annexin I ANX 1

Apurinic endonuclease APE 1

Argimne vasopressin AVP 5

Argmine vasopressin receptor 1 A AVPR1A 5

Arginine vasopressin receptor 1B AVPR1B 5

Argimne vasopressin receptor 2 AVPR2 5

Aryl hydrocarbon receptor AHR 2

Arylsulfatase E ARSE 1

Aspartate transcarbamoylase 1

Ataxia teiangiectasia gene, AT ATM 6

ATP cobalamin adenoxyltransferase 1

ATP sulphurylase atpsk2 1

ATP/ADP translocase 1

Atriai natriuretic peptide ANP 6

Atrial natriuretic peptide receptor A NPR1 6

Atriai natriuretic peptide receptor B NPR2 6 Atriai natriuretic peptide receptor C NPR3 6

BCL2-associated X protein BAX 6

Benzodiazepine receptor 5

Beta-endo hin receptor 5

Bile acid coenzyme A: amino acid N- BAAT 1 acyltransferase

Bile salt export pump BSEP, PFIC2 2

Bile salt-stimulated lipase CEL 1

Billrabin UDP-glucuronosyltransferase 1

Biliverdin reductase 2

Bleomycin hydrolase BLMH 1

Bradykinin receptor Bl 4

Bradykinin receptor B2 4

Breakpoint cluster region BCR 6

Breast cancer 1 BRCAI 6

Breast cancer 2 BRCA2 6

Brush border guanylyl cyclase 1

Butyrylcholinesterase BCHE 1

Ca(2+) transporting ATPase, fast twitch ATP2A1 2

Ca(2+) transporting ATPase, slow twitch ATP2A2 2

Calcineurin AI CALNA1 4

Calcineurin A2 CALNA2 4

Calcineurin A3 CALNA3 4

Calcineurin B

Calcitonin receptor /Calcitonin gene-related CALCR 5 peptide receptor

Calcium Channel, voltage-dependent, alpha 1 F CACNA1F 5 subunit

Calcium Channel, voltage-dependent, Alpha- CACNA1B 5

1 B (CACNL1A5)

Calcium Channel, voltage-dependent, Alpha- CACNA1C 5

1 C

Calcium Channel, voltage-dependent, Alpha- CACNA1D 5

1 D

Calcium Channel, voltage-dependent, Alpha- CACNA1E 5

1E (CACNLIA6)

Calcium Channel, voltage-dependent, Alpha- CACNA2 5

2/delta

Calcium Channel, voltage-dependent, Beta 1 CACNBI 5

Calcium Channel, voltage-dependent, Beta 3 CACNB3 5

Calcium Channel, voltage-dependent, L type, CACNA1S 5 alpha IS subunit

Calcium Channel, voltage-dependent, CACNG2 5

Neuronal, Gamma

Calcium Channel, voltage-dependent, P/Q CACNA1A 5 type, alpha 1 A subunit

Calcium Channel, voltage-dependent, T-type 5 Canalicular multispecific organic anion CMOAT 2 transporter

Cannabinoid receptor CNR1 5

Carbamoylphosphate synthetase 1 CPS1

Carbamoylphosphate synthetase 2 CPS2

Carbomc anhydrase 3 CA3

Carbonic anhydrase 4 CA4

Carbomc anhydrase, alpha CA1

Carbomc anhydrase, beta CA2

Carnitine transporter protein CDSP, SCD 2

Carnosinase 5

Cartilage-hair hypoplasia gene CHH 5

Catalase CAT 4

Catechol-o-methyltransferase COMT 1

Catemn, beta CTNNBL 6

Cell adhesion molecule, vascular, VCAM VCAM1 6

Cholecystokinin CCK 5

Cholecystokinin B receptor CCKBR 5

Cholesterol ester transfer protein CETP 2

Choline acetyltransferase CHAT 1

CoA transferase 1

Colony-stimulating factor 1 CSF1 6

Colony-stimulating factor 2 CSF2 6

Colony-stimulating factor 3 CSF3 6

Colony-stimulating factor 3 receptor CSF3R 6

Complex V MTATP6 1

Coproporphyrinogen oxidase CPO 1

Cortico-steroid binding protein 2

Corticosteroid nuclear receptor 4

CorticotropMn-releasing hormone receptor CRHR1 2

Creb binding protein CREBBP 6

Crystallin, alpha A CRYAA 3

Crystallin, alpha B CRYAB 3

Crystallin, beta B2 CRYBB2 3

Crystallin, gamma A CRYGA 3

Cu2+ transporting ATPase alpha polypeptide ATP7A 1

Cu2+ transporting ATPase beta polypeptide ATP7B 1

Cyclic AMP response element binding protein CREB 6

Cyclic AMP response element modulator CREM 6

Cyclic AMP-dependent protein kinase PKA 1

Cyclic nucleotide phosphodiesterase 1 B PDE1B 1

Cyclic nucleotide phosphodiesterase I B I PDEIB1 1

Cyclic nucleotide phosphodiesterase 2A3 PDE2A3 1

Cyclic nucleotide phosphodiesterase 3 A PDE3A 1

Cyclic nucleotide phosphodiesterase 3B PDE3B 1

Cyclic nucleotide phosphodiesterase 4A PDE4A 1

Cyclic nucleotide phosphodiesterase 4C PDE4C 1 Cyclic nucleotide phosphodiesterase 5A PDE5A

Cyclic nucleotide phosphodiesterase 6A PDE6A

Cyclic nucleotide phosphodiesterase 6B PDE6B

Cyclic nucleotide phosphodiesterase 7 PDE7

Cyclic nucleotide phosphodiesterase 8 PDE8

Cyclic nucleotide phosphodiesterase 9A PDE9A

Cyclin F CCNF 6

Cyclin-dependent kinase inMbitor 1 A (P21, CDKNIA 6 cipi)

Cyclooxygenase 1 COX1

Cyclooxygenase 2 COX2

CyclopMlin 4

CYPL1A1 CYP11A1

CYP1IB1 CYPI1B1

CYPL1B2 CYP11B2

CYPI7 CYP17

CYP19 CYPI9

CYP1A1 CYP1A1

CYPIA2 CYP1A2

CYPIBL cyplbl

CYP21 CYP21

CYP24 CYP24

CYP27 CYP27

CYP27B1 PDDR

CYP2A1 CYP2A1

CYP2A13 CYP2A1 3

CYP2A3 CYP2A3

CYP2A6V2 CYP2A6V2

CYP2A7 CYP2A7

CYP2B6 CYP2B6

CYP2CI8 CYP2C18

CYP2CI9 CYP2C19

CYP2C8 CYP2C8

CYP2C9 CYP2C9

CYP2D6 CYP2D6

CYP2E1 CYP2EI

CYP2F1 CYP2FI

CYP2J2 CYP2J2

CYP3A3 CYP3A3

CYP3A4 CYP3A4

CYP3A5 CYP3A5

CYP3A7 CYP3A7

CYP4AI1 GYP4A11

CYP4B1 CYP4B1

CYP4F2 CYP4F2

CYP4F3 CYP4F3

CYP51 CYP51 CYP5A1 CYP5A1 1

CYP7A CYP7A 1

CYP8 CYP8 1

Cystic fibrosis transmembrane conductance CFTR 5 regulator, CFTR

Cytidine deaminase CDA 1

Cytidine-5-prime-triphosphate synthetase CTPS 1

Cytokine-suppressive antimflammatory drug- CSBPL 4 binding protein I

Cytokine-suppressive antiinfla matory drug- CSBP2 4 binding protein 2

Deoxycytidine kinase DCK 1

Deoxyuridine triphosphatase; dUTPase 1

DHEA sulfotransferase STD 1

Dihydrodiol dehydrogenase 1 DDHL 1

Dihydrofolate reductase DHFR 1

Dihydrolipoamide branched chain transacylase DBT 5

Dihydroiipoamide dehydrogenase DLD 5

Dihydrolipoyl dehydrogenase 2 PDHA 1

Dihydrolipoyl transacetylase PDHA 1

Dihydroorotase 1

Dihyropyrimidine dehydrogenase DPYD 1

Disrupted meiotic CDNA 1, homolog DMC1 6

DNA damage binding protein, DDBI DDBI 3

DNA damage binding protein, DDB2 DDB2 3

DNA directed polymerase, alpha POLA 1

DNA glycosylases 1

DNA helicases 1

DNA Ligase 1 LIGI 1

DNA methyltransferase DNMT 1

DNA polymerase 1 1

DNA polymerase 2 1

DNA polymerase 3 1

DNA primase 1

DNA-damage-inducible transcript 3 DDIT3 3

DNA-dependant RNA polymerase 1

Dopamine receptors Di DRDI 5

Dopamine receptors D2 DRD2 5

Dopamine receptors D3 DRD3 5

Dopamine receptors D4 DRD4 5

Dopamine receptors D5 DRD5 5

Erythropoietin EPO 4

Erythropoietin receptor EPOR 4

Estrogen receptor ESR 6

Excision repair complementation group 1 ERCCI 1 protein Excision repair complementation group 2 ERCC2 1 protein

Excision repair complementation group 3 ERCC3 1 protein

Excision repair complementation group 4 ERCC4 1 protein

Excision repair complementation group 6 ERCC6 1 protein

Factor H HFI 4

Factor IX F9 4

Factor VII F7 4

Factor VIII F8 4

Factor X F10 4

Fafty acid binding proteins FABPL 2

Fafty acid binding proteins FABP2 2

Fafty acid binding proteins FABP3 2

Fafty acid binding proteins FNBP4 2

Fafty acid binding proteins FABP5 2

Fafty acid binding proteins FABP6 2

Fibroblast growth factor FGF1 6

Flavin-containing monooxygenase 1 FMO1 1

Flavin-containing monooxygenase 2 FMO2 1

Flavin-containing monooxygenase 3 FMO3 1

Flavin-containing monooxygenase 4 FMO4 1

Folie acid receptor FOLR 6

Follicle stimulating hormone receptor FSHR,ODGl 6

Follicle stimulating hormone, FSH FSHB 6

Forkhead transcription factor 10 FKHL10 6

Forkhead transcription factor 14 FKHL14 6

Forkhead transcription factor 7 FKHL7 6

G/T mismatch binding protein GTBP,MSH6 6

GABA receptor, alpha 1 GABRAI 5

GABA receptor, alpha 2 GABRA2 5

GABA receptor, alpha 3 GABRA3 5

GABA receptor, alpha 4 GABRA4 5

GABA receptor, alpha 5 GABRA5 5

GABA receptor, alpha 6 GABRA6 5

GABA receptor, beta 1 GABRBI 5

GABA receptor, beta 2 GABRB2 5

GABA receptor, beta 3 GABRB3 5

GABA receptor, gamma 1 GABRG1 5

GABA receptor, gamma 2 GABRG2 5

GABA receptor, gamma 3 GABRG3 5

GABA transaminase ABAT 1

Gadd45 (growth arrest & DΝA-damage-inducible protein) 1

Galactose 1-phosphate uridyl-transferase GALT 1

Gamma-glutamyl carboxylase GGCX 2 Gamma-glutamyltransferase I GGTL 2

Gamma-glutamyltransferase 2 GGT2 2

Gastric inMbitory polypeptide receptor, GIPR GIPR 2

Gastric lipase, LIPF 2

Glucagon receptor GCGR 6

Glucocorticoid receptor GRL 6

Glucosaminyl (N-acetyl) transferase 2, 1- GCNT2 1 branching enzyme

Glucosidase, acid beta GBA 1

Glutamate decarboxylase, GAD GAD1 1

Glutamate receptor 1 GLUR1 5

Glutamate receptor 2 GLUR2 5

Glutamate receptor 3 GLUR3 5

Glutamate receptor 4 GLUR4 5

Glutamate receptor 5 GLUR5 5

Glutamate receptor 6 GLUR6 5

Glutamate receptor 7 GLUR7 5

Glutamate receptor, ionotropic, NMDA 1 NMDAR1 5

Glutamate receptor, ionotropic, NMDA 2A NMDAR2A 5

Glutamate receptor, ionotropic, NMDA 2B NMDAR2B 5

Glutamate receptor, ionotropic, NMDA 2C NMDAR2C 5

Glutamate receptor, ionotropic, NMDA 2D NMDAR2D 5

Glutamine phosphoribosylpyrophosphate amidotransferase/PRPP amidotransferase 1

Glutatiiione GSH 2

GlutatMone peroxidase, GPXL GPXI

Glutatiiione peroxidase, GPX2 GPX2

GlutatMone reductase, GSR GSR

Glutatiiione S-transferase mu 1, GSTMI GSTMI

GlutatMone S-transferase mu 4, GSTM4

GlutatMone S-transferase theta 1, GSTT1 GSTT1

GlutatMone S-transferase theta 2, GSTT2

GlutatMone S-transferase, GSTP1 GSTP1

GlutatMone S-transferase, GSTZ1 GSTZ1

GlutatMone synthetase GSS

Glyceraidehyde-3 -phosphate dehydrogenase, GAPDH

GAPDH

Glycinamide ribanucleotide (GAR) GART transformylase

Glycine receptor, alpha GLRA2 5

Glycine receptor, beta 5

Glycine transporter GLYT 5

Gonadotropin releasing hormone GNRH 6

Gonadotropin releasing hormone receptor GNRHR 6

Growth arrest-specific homeobox GAX 6

Growth hormone I GHI 6

Growth hormone 2 (placental) GH2 6 Growth hormone receptor GHR 6

Growth hormone releasing hormone (GHRH) GHRH 6

Growth hormone releasing hormone receptor GHRHR 6

GTP cyclohydrolase I GCH1 6

GTPase-activating protein, GAP RASAI 6

Guanidinoacetate N-methyltransferase GAMT 1

Guanine nucleotide-binding protein, alpha GNA01 5 activating activity polypeptide, GNAO

Guanine nucleotide-binding protein, alpha GNAI1 5 inMbiting activity polypeptide 1, GNAI1

Guanine nucleotide-binding protein, alpha GNAI2 5 inMbiting activity polypeptide 2, GNAI2

Guanine nucleotide-binding protein, alpha GNAI3 5 inMbiting activity polypeptide 3, GNAI3

Guamne nucleotide-binding protein, alpha GNAS1 5 stimulating activity polypeptide, GNAS1

Guamne nucleotide-binding protein, alpha GNAS2 5 stimulating activity polypeptide, GNAS2

Guanine nucleotide-binding protein, alpha GNAS3 5 stimulating activity polypeptide, GNAS3

Guanine nucleotide-binding protein, alpha GNAS4 5 stimulating activity polypeptide, GNAS4

Guamne nucleotide-binding protein, alpha GNATI 5 transducing activity polypeptide, GNAT1

Guamne nucleotide-binding protein, alpha GNAT2 5 transducing activity polypeptide, GNAT2

Guamne nucleotide-binding protein, beta GNB3 5 polypeptide 3

Guanine nucleotide-binding protein, gamma GNG5 5 polypeptide 5

Guanine nucleotide-binding protein, GNAQ 5 polypeptide

Guanylate cyclase 2D, membrane (retina- GUCY2D 1 specific)

Guanylate cyclase activator 1A (retina) GUCALA 1

Guanylate kinase 1

Guanylin GUCA2 2

Guanylyl cyclase 1

H(+), K(+) - ATPase ATP4B 5

Heat shock protein, HSP60 4

Heat shock protein, HSP70 4

Heat shock protein, HSP90 4

Hemopexin HPX 4

Hepatic lipase LIPC 1

Histamine receptors, Hl 5

Histamine receptors, H2 5

Histamine receptors, H3 5 HLH transcription factor HAND1 HAND1 6

HLH transcription factor HAND2 HAND2 6

HMG-COA lyase HMGCL 1

HMG-COA reductase HMGCR 1

HMG-COA synthase HMGCS2 1

Hormone-sensitive lipase HSL 1

HSSB, replication protein 1

HypoxantMne-guamne HPRT 1 phosphoribosyltransferase, HGPRT

Ibonucleoside diphosphate reductase 1

Ikaros gene IKAROS 6

Inosine monophosphate dehydrogenase IMPDH 1

Inosine triphosphatase ITPA 1

Inositol monophosphatase IMPAL 5

Insulin INS 6

Insulin receptor INSR 6

Insulin-like growth factor 1 receptor IGFI R 6

Insulin-like growth factor 2 receptor IGF2R 6

Interferon alpha IFNAL 4

Interferon beta IFNB 4

Interferon gamma IFNG 4

Interferon gamma receptor 1 IFNGRL 4

Interferon gamma receptor 2 IFNGR2 4

Interferon regulatory factor 1 IRF1 4

Interferon regulatory factor 4 IRF4 4 lnterleukin(IL) 1 receptor IL1R 4 lnterleukin(IL) 1, alpha IL1A 4

Interleukin(IL) 1, beta IL1B 4

Interleukin(IL) 10 IL10 4 lnterleukin(IL) 10 receptor IL10R 4 lnterleukin(IL) II IL11 4

Interleukin(IL) 11 receptor IL11R 4 lnterleukin(IL) 12 IL12 4 lnterleukin(IL) 12 receptor, beta I IL12RB1 4 lnterleukin(IL) 13 IL13 4 lnterleukin(IL) 13 receptor IL13R 4

Interleukin(IL) 2 IL2 4 lnterleukin(IL) 2 receptor, alpha IL2RA 4 lnterleukin(IL) 2 receptor, gamma IL2RG 4

Interleukin(IL) 3 IL3 4 lnterleukin(IL) 3 receptor IL3R 4

Interleukin(IL) 4 IL4 4

Interleukin(IL) 4 receptor IL4R 4

Interleukin(IL) 5 IL5 4 lnterleukin(IL) 5 receptor IL5R 4

Merlevx n(IL) 6 IL6 4

Mterleukin(IL) 6 receptor IL6R 4 Interleukin(IL) 7 IL7 4

Interleukin(IL) 7 receptor IL7R 4

Interleukin(IL) 8 IL8 4

Interleukin(IL) 8 receptor IL8R 4

Interleukin(IL) 9 IL9 4

Interleukin(IL) 9 receptor IL9R 4 lnterleukin(IL) receptor antagomst 1 IL1RN, IL1RA 4

Kallikrein 3 KAK3 4

Kinectin KTNL 6

Kinesin, heavy chain KNSLI 6

Kinesin, light chain KNS2 6

Kminbgen, High molecular weight KNG 4

Leptin LEP 6

Leptin receptor LEPR 6

Leukotriene A4 hydrolase 4

Leukotriene B4 receptor 4

Leukotriene C4 receptor 4

Leukotriene D4/E4 receptor 4

LH/choriogonadotropin (CG) receptor LHCGR 6

LIM homeobox transcription factor 1, beta LMXL B 6

Lipoprotein lipase LPL 4

Lipoprotein receptor, Low Density LDLR 2

Lipoxygenase 12 (platelets) LOG12 4

Lipoxygenase 5 (leukocytes) 4

Low density lipoprotein receptor-related protein LRP 2 precursor

Lysosomal acid lipase LIPA 1

Malonyl CoA decarboxylase 1

Malonyl CoA transferase 1

Maltase-glucoamylase 1

Mannose binding protein MBP 4

Mannosyl-(alpha-l,6-)-glycoprotein beta-1, 2- MGAT2 2

N-acetylglucosaminyltransferase

MAPK kinase 1 MAPKK1; MEK1 6

MAPK kinase 4 MAPKK4; MEK4; 6 SERKI

MAPK kinase 6 MAPKK6; MEK6 6 MAPKK kinase MAPKKK 6 Matrix Gia protein MGP 6 MEK kinase, MEKK 1 Melanocortin 2 receptor MC2R 2 Melanocortin 4 receptor MC4R 2 MetMonine adenosyltransferase MAT1A, MAT2A MetMomne synthase MTR MetMonine synthase reductase MTRR Methylguanine-DNA methyltransferase MGMT Mevalonate kinase MVK MHC Class ϊ: Tapl ABCR, TAP1 4

MHC Class II: Tap2 TAP2,PSF2 4

Microphthalmia-associated transcription factor MITF 6

Mismatch repair gene, PMSLI PMS1 6

Mismatch repair gene, PMSL2 PMS2 6

Mitochondrial trifunctional protein, alpha. HADHA 1 subumt

Mitochondrial trifunctional protein, beta subunit HADHB 1

Mitogen-activated protein (MAP) kinase MAPK 6

Monoamine oxidase A MAOA 1

Monoamine oxidase B MAOB 1

Multidrug resistance associated protein MRP 6

Muscarinic receptor, Ml CHRMI 5

Muscarimc receptor, M2 CHRM2 5

Muscadmc receptor, M3 CHRM3 5

Muscarinic receptor, M4 CHRM4 5

Muscarimc receptor, M5 CHRM5 5

Na+, K+ ATPase, alpha ATPIAI 6

Na+, K+ ATPase, beta 1 ATPIBI 6

Na+, K+ ATPase, beta 2 ATPIB2 6

Na+, K+ ATPase, beta 3 ATP1B3 6

Na+/H+ exchanger 1 NHFI 2

Na+/H+ exchanger 2 NHE2 2

Na+/H+ exchanger 3 NHE3 2

Na+/H+ exchanger 4 NHE4 2

Na+/H+ exchanger 5 NHE5 2

N-acetylgalactosamine-6-sulfate sulfatase GALNS 1

N-acetylglucosamine-6-sulfatase GNS 1

N-acetylglucosamimdase, alpha NAGLU 1

N-acetyltransferase 1 NATI 1

N-acetyltransferase 2 NAT2 1

N-acyl hydrolase 4

NADH dehydrogenase (ubiquinone) NDUFVL 1

Flavoprotein I

NADH-cytochrome b5 reductase DIA1 1

NepMolitMasis 2 NPHL2 2

NephronophtMsis 2 NPHP2 2

Nephrosis 1 NPHSI 2

Neuroendocrine convertase 1 NEC1.PCSK1 1

Neurokinin A NKNA 5

Neurokimn B NKNB 5

Neuropeptide Y NPY 5

Neuropeptide Y receptor Yl NPYLR 5

Neuropeptide Y receptor Y2 NPY2R 5

Niacin receptor 6

Niemann-Pick disease protein NPCL 2

Nuclear factor kappa beta NFKB 4 Nuclear factor of activated T cells (NFAT) NFATC 6 complex, cytosolic

Nuclear factor of activated T cells (NFAT) NFATP 6 complex, preexisting component

Nucleoside diphosphate kinase-A NDPKA 1

Oncogene spil 6

Opioid receptor, delta OPRDI 5

Opioid receptor, kappa OPRK1 5

Opioid receptor, mu OPRM1 5

OrnitMne transcarbamoylase OTC, NME1 1

Osteoprotegerin OPG 6

Otoferlin OTOF 5

Oxytocin OXT 5

Oxytocin receptor OXTR 5

Paired-like homeodomain transcription factor 2 PITX2 6

Paired-like homeodomain transcription factor 3 PITX3 6

Paraoxonase PON1 PON1 1

Paraoxonase PON2 PON2 1

Paraoxonase PON3 PON3 1

Parathyroid hormone PTH 6

Parathyroid hormone receptor PTHR1 6

Parathyroid hormone related-peptide PTHRP 6

Parathyroid hormone-like hormone PTHLH 6

Parvalbumin PVALB 6

PCNA (proliferating cell nuclear antigen) 1

Peanut-like PNUTLI 4

Peroxisomal membrane protein I Pxmpl 3

Peroxisome biogenesis factor 1 PEX1 2

Peroxisome biogenesis factor 19 PEX19 2

Peroxisome biogenesis factor 6 PEX6 2

Peroxisome biogenesis factor 7 PEX7 2

Peroxisome proliferative activated receptor, PPARA 2 alpha

Peroxisome proliferative activated receptor, PPARG 2 gamma

P-glycoprotein 1 PGY1 2

P-glycoprotein 3 PGY3 2

Phenylethanolamine N-methyltransferase, PNMT 1

PNMT

Phosphodiesterase 1 / nucleotide PDNPI 6 pyrophosphatase I

Phosphodiesterase I / nucleotide PDNP2 6 pyrophosphatase 2

Phosphodiesterase 1 / nucleotide PDNP3 6 pyrophosphatase 3

Phospholipase A2, group 10 PLA2G 10 4

Phospholipase A2, group 1B PLA2G 1B 4 Phospholipase A2, group 2A PLA2G2A 4

Phospholipase A2, group 2B PLA2G2B 4

Phospholipase A2, group 4A PLA2G4A 4

Phospholipase A2, group 4C PLA2G4C 4

Phospholipase A2, group 5 PLA2G5 4

Phospholipase A2, group 6 PLA2G6 4

Phospholipase C alpha 4

Phospholipase C beta 4

Phospholipase C delta PLCD1 4

Phospholipase C epsilon 4

Phospholipase C gamma PLCG1 4

Phosphomannomutase-2 PMM2 2

Phosphomannose isomerase-1, PMI I MPI 2

Phosphoribosyl pyrophosphate synthetase PRPS1 1

Pituitary adenylate cyclase activating peptide PACAP 5

Pituitary adenylate cyclase activating peptide PACAPLR 5 receptor

Plasminogen activator, Tissue PLAT, TPA 1

Platelet-activating factor receptor PAFR 4

Plectin I PLEC1 2

Polycystin 1 PKD1 2

Polycystin 2 PKD2 2

Porphobilinogen deaminase HMBS 1

Potassium Channel, calcium-activated, KCNN4 5

Potassium Channel, subfamily K, member 1 KCNK1 5

Potassium Channel, subfamily K, member 2 KCNK2 5

Potassium Channel, subfamily K, member 3 KCNK3 5

Potassium inwardly-rectifying Channel JI KCNJ1 5

Potassium inwardly-rectifying Channel JII KCNJ11 5

Potassium voltage-gated Channel AI KCNA1 5

Potassium voltage-gated Channel EI KCNE1 5

Potassium voltage-gated Channel QI KCNQ1 5

Potassium voltage-gated Channel Q2 KCNQ2 5

Potassium voltage-gated Channel Q3 KCNQ3 5

POU domain, class 1, transcription factor I POUI FI 6

(Piti)

POU domain, class 3, transcription factor 4 POU3F4 6

POU domain, class 4, transcription factor 3 POU4F3 6

Pre-B-cell leukemia transcription factor 1 PBxl 6

Preproglucagon GCG, GLP1, GLP2 6 receptor)

Prolactin PRL 6

Prolactin receptor PRLR 6

Proopiomelanocortin POMC 5

Prostacyclin synthase 4

Prostaglandin 15-OH dehydrogenase HGPD, PGDH 4

Prostaglandin D-DP receptor 4 Prostaglandin El receptor 4

Prostaglandin E2 receptor 4

Prostaglandin E3 receptor 4

Prostaglandin F-FP receptor 4

Prostaglandin F2 alpha receptor 4

Prostaglandin IP receptor 4

Prostaglandin-endoperoxidase synthase 2 PTGS2 6

Protease nexin 2 PN2 1

Protein C PROC 4

Protein kinase DNA-activated PRKDC 1

Protein S PROS1 4

Pterin-4-alpha-carbinolamine PCBD

Purine nucleoside phosphorylase NP 1

Purinergic receptor P1A1 5

Purinergic receptor P1A2 5

Purinergic receptor P1A3 5

Purinergic receptor P2X, 1 P2RX1 5

Purinergic receptor P2X, 2 P2RX2 5

Purinergic receptor P2X, 3 P2RX3 5

Purinergic receptor P2X, 4 P2RX4 5

Purinergic receptor P2X, 5 P2RX5 5

Purinergic receptor P2X, 6 P2RX6 5

Purinergic receptor P2X, 7 P2RX7 5

Purinergic receptor P2Y, 1 P2RY1 5

Purinergic receptor P2 Y, 11 P2RY11 5

Purinergic receptor P2Y, 2 P2RY2 5

RAD51, DNA repair protein RAD51 6

RAD52, DNA repair protein RAD52 6

RAD54, DNA repair protein RAD54 6

RAD55, DNA repair protein RAD55 6

RAD57, DNA repair protein RAD57 6

Recombination activating gene 1 RAG1 6

Recombination activating gene 2 RAG2 6

Red cone pigment RCP 3

Replication factor A 1

Replication factor C RFC2 1

Retinaldehyde binding protein 1 RLBPL 2

Retinoic acid receptor, alpha RARA 6

Retinoic acid receptor, beta RARB 6

Retinoic acid receptor, gamma RARG 6

Retinoid X receptor, alpha RXRA 6

Retinoid X receptor, beta RXRB 6

Retinoid X receptor, gamma RG 6

Retinol binding protein 1 2

Retinol binding protein 2 2

Retinol binding protein 4 RBP4 2

Ribonucleotide reductase, RRM 1 Ribosephosphate pyrophosphokinase 1

Ribosomal protein L13A RPL13A 6

Ribosomal protein S19 RPS19 1

Ribosomal protein S4, X-linked RPS4X 1

Ribosomal protein S6 kinase RPS6KA3 1

Ribosomal protein S9 RPS9 6

S-AdenosylmetMonine decarboxylase, AMD 1

Secretin SCT 2

Secretin receptor, SCTR SCTR 2

Serine hydroxymethyltransferase SHMT 1

Serotomn-N-acetyltransferase SNAT 1

Serotomn receptor, 5HT1A HTR1A 5

Serotonin receptor, 5HT1B HTR1B 5

Serotomn receptor, 5HT1C HTR1C 5

Serotonin receptor, 5HT1D HTR1D 5

Serotomn receptor, 5HT1E HTR1E 5

Serotonin receptor, 5HT1F HTR1F 5

Serotonin receptor, 5HT2A HTR2A 5

Serotonin receptor, 5HT2B HTR2B 5

Serotomn receptor, 5HT2C HTR2C 5

Serotomn receptor, 5HT3 HTR3 5

Serotonin receptor, 5HT4 HTR4 5

Serotonin receptor, 5HT5 HTR5 5

Serotonin receptor, 5HT6 HTR6 5

Serotomn receptor, 5HT7 HTR7 5

Slug protein 6

Small nuclear ribonucleoprotein polypeptide N SNRPN 3

Sodium Channel, non-voltage gated 1, alpha SCNNA 5

Sodium Channel, non-voltage gated 1, beta SCNN1B 5

Sodium Channel, non-voltage gated 1, gamma SCNNIG 5

Sodium Channel, voltage gated, type IV, alpha SCN4A 5 polypeptide

Sodium Channel, voltage gated, type V, alpha SCN5A 5 polypeptide

Sodium Channel, voltage gated, type 1, beta SCN1B 5 polypeptide

Solute carrier family 1 (amino acid transporter), SLCl A6 2 member 6

Solute carrier family 1 (glial Mgh affimty SLC1A3 2 glutamate transporter), member 3

Solute carrier family 1 (glutamate transporter), SLC1A1 2 member 1

Solute carrier family I (glutamate transporter), SLCIA2 2 member 2

Solute carrier family 1 (neutral amino acid SLCIA4 2 transporter), member 4 Solute carrier family 10 (sodium/bile acid SLCIOA1 cotransporter family),member 1

Solute carrier family IO (sodium/bile acid SLC1OA2 cotransporter family),member 2

Solute carrier family 12, member 1 SLC12A1 2

Solute carrier family 12, member 2 SLC12A2 2

Solute carrier family 12, member 3 SLC12A3 2

Solute carrier family 14, member 2 SLC14A2 2

Solute carrier family 15 (H+/peptide SLC15A1 2 transporter, intestinal), member 1

Solute carrier family 15 (H+/peptide SLC15A2 transporter, kidney), member 2

Solute carrier family 16 (monocarboxylate SLC16A1 transporter), member 1

Solute carrier family 16 (monocarboxylate SLC16A7 transporter), member 7

Solute carrier family 17, member 1 SLC17A1 2

Solute carrier family 17, member 2 SLC17A2 2

Solute carrier family 18, member 3 SLC18A3 2

Solute carrier family 19 (folate transporter), SLC19A1 2 member 1

Solute carrier family 2 (facilitated glucose SLC2A1 transporter), member 1

Solute carrier family 2 (facilitated glucose SLC2A2 transporter), member 2

Solute carrier family 2 (facilitated glucose SLC2A3 transporter), member 3

Solute carrier family 2 (facilitated glucose SLC2A4 transporter), member 4

Solute carrier family 2 (facilitated glucose SLC2A5 transporter), member 5

Solute carrier family 20, member 1 SLC2OA1 2

Solute carrier family 20, member 2 SLC2OA2 2

Solute carrier family 20, member 3 SLC2OA3 2

Solute carrier family 21, member 2 SLC21A2 2

Solute carrier family 21, member 3 SLC21A3 2

Solute carrier family 22, member 1 SLC22A1 2

Solute carrier family 22, member 2 SLC22A2 2

Solute carrier family 22, member 5 SLC22A5 2

Solute carrier family 25, member 12 SLC25A12 2

Solute carrier family 3 (facilitated glucose SLC3A1 2 transporter), member 1

Solute carrier family 4 (anion exchanger), SLC4A1 2 member 1

Solute carrier family 4 (amon exchanger), SLC4A2 2 member2 Solute carrier family 4 (anion exchanger), SLC4A3 2 member 3

Solute carrier family 5 (sodium/glucose SLC5A1 2 transporter), member 1

Solute carrier family 5 (sodium/glucose SLC5A2 2 transporter), member 2

Solute carrier family 5 (sodium/glucose SLC5A5 2 transporter), member 5

Solute carrier family 5, member 3 SLC5A3 2

Solute carrier family 6 (GAMMA- SLC6A1 2

AMINOBUTYRIC ACID transporter), member 1

Solute carrier family 6 (neurotransmitter SLC6A3 2 transporter, dopamine), member 3

Solute carrier family 6 (neurotransmitter SLC6A2 2 transporter, noradrenaline), member 2

Solute carrier family 6 (neurotransmitter SLC6A4 2 transporter, serotomn), member 4

Solute carrier family 6, member 10 SLC6A10 2

Solute carrier family 6, member 6 SLC6A6 2

Solute carrier family 6, member 8 SLC6A8 2

Solute carrier family 7(amino acid transporter), SLC7A1 2 member 1

Solute carrier family 7(amino acid transporter), SLC7A2 2 member 2

Solute carrier family 7(amino acid transporter), SLC7A7 2 member 7

Solute carrier family 8 (sodium/calcium SLC8A1 2 exchanger), member 1

Somatostatin SST 5

Somatostatin receptor, SSTR1 SSTR1 5

Somatostatin receptor, SSTR2 SSTR2 6

Somatostatin receptor, SSTR3 SSTR3 5

Somatostatin receptor, SSTR4 SSTR4 5

Somatostatin receptor, SSTR5 SSTR5 5

Sorcin SRI 2

SOSI guamne nucleotide exchange factor sosi 6

Steroid 5 alpha reductase 1 SRD5AI 1

Steroid 5 alpha reductase 2 SRD5A2 1

Steroid hormone receptor responsive DNA 6 elements

Sterol carrier protein 2 SCP2 2

Succinic semi-aldehyde dehydrogenase SSADH 1

Sucrase 1

Sulfonylurea receptor SUR 6

Synaptic vesicle amine transporter SVAT 5

Tachykinin receptor, NK1R TACR1 5

Tachykinin receptor, NK2R TACR2 5 Tachylrinin receptor, NK3R TACR3 5

Terminal deoxynucleotidyltransferase TDT 4

TMopurine-S-methyltransferase TPMT 1

Thrombopoietin THPO 6

Thromboxane A synthase I TBXASI 4

Thromboxane A2 TXA2 4

Thromboxane A2 receptor TBXA2R 4

Thymidylate synthase TYMS 1

Thymopoietin TMPO 6

Thyroid hormone receptor, beta THRB 6

Thyroid-stimulating hormone receptor TSHR 6

Thyroid-stimulating hormone, alpha TSHA 6

Thyroid-stimulating hormone, beta TSHB 6

Topoisomerase I 1

Topoisomerase II 1

Transcription factor 1, hepatic TCF1 6

Transcription factor 2, hepatic TCF2 6

Transcription factor 3 TCF3 6

Transcription factor binding to IGHM enhancer TFE3 6

3

Transcription factor, TUPLE1 TUPLE1 5

Transcription termination factor, RNA TTF1 6 polymerase 1

Transcription termination factor, RNA TTF2 6 polymerase 2

Transcription termination factor, RNA TTF3 6 polymerase 3

Transferrin TF 6

Transferrin receptor TFRC 6

Transthyretin TTR 2

Tubulin 3

Tumour necrosis factor (TNF) receptor TRAF1 4 associated factor I

Tumour necrosis factor (TNF) receptor TRAF2 4 associated factor 2

Tumour necrosis factor (TNF) receptor TRAF3 4 associated factor 3

Tumour necrosis factor (TNF) receptor TRAF4 4 associated factor 4

Tumour necrosis factor (TNF) receptor TRAF5 4 associated factor 5

Tumour necrosis factor (TNF) receptor TRAF6 4 associated factor 6

Tumour necrosis factor alpha TNFA 4

Tumour necrosis factor alpha receptor TNFAR 4

Tumour necrosis factor beta TNFB 4

Tumour necrosis factor beta receptor TNFBR 4 Tumour protein p53 TP53,P53 6

Tumour protein p63 TP63 6

Tumour Suppressor gene DRA DRA 4

Ubiquitin 6

Ubiquitin activating enzyme, El 1

Ubiquitin B UBB 6

Ubiquitin C UBC 6

Ubiquitin carboxyl-terminal esterase Ll UCHL1 6

Ubiquitin protein ligase E3 A UBE3A 1

UDP-glucose pyrophosphorylase 1

UDP-glucuronosyltransferase 1 ugtld, UGTL 1

UDP-glucuronosyltransferase 2 UGT2 1

Uncoupling protein 1 2

Uncoupling protein 3 UCP3 2

Uridine monophosphate kinase UMPK 4

Uridine manophosphate synthetase UMPS 4

Uridinediphosphate(UDP)-galactose-4- GALE 1 epimerase

Vimentin VIM 4

Vitamin B12-binding (R) protein 6

Vitamin D receptor VDR 6

Xant ne dehydrogenase XDH 1

Xeroderma pigmentosum, complementation XPA 1 group A

Xeroderma pigmentosum, complementation XPB 1 group B

Xeroderma pigmentosum, complementation XPC 1 group C

Xeroderma pigmentosum, complementation 1 group D

Xeroderma pigmentosum, complementation 1 group E

Xeroderma pigmentosum, complementation XPF 1 group F

Xeroderma pigmentosum, complementation ERCC5 1 group G

X-ray repair gene XRCC9 6

Xylitol dehydrogenase 1

YY1 transcription factor YY1 6

Legende für die Spalte Proteinfunktion:

1 Enzym 2 Transport und Lagerung

3 Struktur 4 Immunität

5 Nervale Transmission 6 Wachstum und Differenzierung Tabelle 2 Krebs

Liste der Gene HUGO Protein¬

Gensymbol funktion

Absent in melanoma 1 gene AIM1 6

Actin, alpha, cardiac ACTC 3

Actin, alpha, skeletal ACTA1 3

Actin, alpha, smooth, aortic ACTA2 3

Activin 6

Activin A receptor, type 2B ACVR2B 6

Activin A receptor, type 2-like kinase 1 ACVRL1 6

Adenomatous polyposis coli tumour supressor APC 6 gene

Adenosine deaminase ADA 1

Adenosine receptor AI ADORN1 5

Adenosine receptor A2A NDORN2N 5

Adenosine receptor A2B ADORA2B 5

Adenosine receptor A3 ADORA3 5

Adenyl cyclase 5

Adenylate cyclase 1 ADCY1

Adeny ate cyclase 2 ADCY2

Adenylate cyclase 3 ADCY3

Adenylate cyclase 4 ADCY4

Adenylate cyclase 5 ADCY5

Adenylate cyclase 6 ADCY6

Adenylate cyclase 7 ADCY7

Adenylate cyclase 8 ADCY8

Adenylate cyclase 9 ADCY9

Adrenergic receptor, alphal ADRA1 5

Adrenergic receptor, alpha2 ADRA2 5

Adrenergic receptor, betal ADRB1 5

Adrenergic receptor, beta2 ADRB2 5

Adrenergic receptor, beta3 ADRB3 5

AdrenocorticotropMc hormone (ACTH) ACTHR 6 receptor

Albumin, ALB ALB 2

Alcohol dehydrogenase 3 ADH3

Aidehyde dehydrogenase 1 ALDH1

Aidehyde dehydrogenase 10 ALDH10

Aidehyde dehydrogenase 2 ALDH2

Aldehyde dehydrogenase 5 ALDH5

Aldehyde dehydrogenase 6 ALDH6

Aldehyde dehydrogenase 7 ALDH7

Aldosterone receptor MLR 6 alpha tectorin TECTA 6 alphal -antitrypsin PI 1 alpha-actinin 2 ACTN2 6 alpha-actimn 3 ACTN3 6

Alpha-fetoprotein AFP 6 alpha-synuclein SNCA 5

AmpMregulin AREG 6

Amyloid beta A4 precursor protein APP 5

Amyloid beta A4 precursor-like protein APLP 5

Androgen receptor AR 6

Angiopoietin 1 ANGPT1 6

Angiopoietin 2 ANGPT2 6

Angiotensin converting enzyme ACE, DCP1 1

Angiotensin receptor 1 AGTR1 2

Angiotensin receptor 2 AGTR2 2

Angiotensinogen AGT 1

Annexin 1 ANX 1 4

Antidiuretic hormone receptor ADHR 2

Antithrombin III AT3 1

AP-2, alpha TFAP2A 6

AP-2, beta TFAP2B 6

AP-2, gamma TFAP2C 6

Apaf-1 3

Apoptosis antigen 1 APT1 4

Apoptosis antigen ligand 1 APT1LG 1 4

Apoptosis-inducing factor AIF 4

Apurimc endonuclease APE 1

Argimne vasopressin AVP 5

Arginosuccinate synthetase ASS 1

Aryl hydrocarbon receptor AHR 2

Aryi hydrocarbon receptor nuclear translocator ARNT 2

Asparagine synthetase AS 1

Aspartate receptor 5

Ataxia telangiectasia complementation group D ATD, ATDC 6

Ataxia telangiectasia gene, AT ATM 6

ATP cobalamin adenoxyltransferase 1

ATP sulphurylase atpsk2 1

ATP-binding cassette transporter 7 ABC7 4

Atriai natriuretic peptide ANP 6

Atriai natriuretic peptide receptor A NPR1 6

Atriai natriuretic peptide receptor B NPR2 6

Atriai natriuretic peptide receptor C NPR3 6

AtropMn 1 DRPLA 6

Bagpipe homeobox, drosopMla homolog of, 1 BAPX1 6

B-cell CLL/lymphoma 1 BCL1 4

B-cell CLL/lymphoma 10 BCL10 4

B-cell CLL/lymphoma 3 BCL3 4

B-cell CLUlymphoma 4 BCL4 4 B-cell CLL/lymphoma 5 BCL5 4

B-cell CLU[ymphoma 6 BCL6 4

B-cell CLL/lymphoma 7 BCL7 4

B-cell CLUlymphoma 8 BCL8 4

B-cell CLL/lymphoma 9 BCL9 4

BCL2-associated X protein BAX 6

BCL2-related protein AI BCL2A1 6

Beckwith-Wiedemann region 1 A BWR1A 6

Benzodiazepine receptor 5 beta 2 microglobulin B2M 4 beta-endorpMn receptor 5 beta-synuclein SNCB 5

Bleomycin hydrolase BLMH 1

Bone morphogenetic protein, BMP1 BMP1 6

Bone morphogenetic protein, BMP2 BMP2 6

Bone morphogenetic protein, BMP3 BMP3 6

Bone morphogenetic protein, BMP4 BMP4 6

Bone morphogenetic protein, BMP5 BMP5 6

Bone morphogenetic protein, BMP6 BMP6 6

Bone morphogenetic protein, BMP7 BMP7 6

Bone morphogenetic protein, BMP8 BMP8 6

Bradykinin receptor Bl 4

Bradykinin receptor B2 4

Brain derived neurotrophic factor BDNF 6

Brain derived neurotrophic factor (BDNF) BDNFR 6 receptor

Branched chain aminotransferase 1, cytosolic BCAT1 1

Branched chain aminotransferase 2, BCAT2 1 mitochondrial

BRCA1 -associated RING domain gene 1 BARD1 6

Breakpoint cluster region BCR 6

Breast cancer 1 BRCA1 6

Breast cancer 2 BRCA2 6

Breast cancer, ductal, 1 BRCD1 6

Breast cancer, ductal, 2 BRCD2 6

Bruton agammaglobulinaemia tyrosine kinase BTK 6

Cl inhibitor 1

Cadherin E CDH1 6

Cadherin EP 6

Cadherin N CDH2 6

Cadherin P CDH3 6

Calbindin I CALBI 6

Calbindin D9K- CALB3 6

Calcitonin receptor /Calcitomn gene-related CALCR 5 peptide receptor

Calcitonin/Calcitonin gene-related peptide CALCA alpha Calcium Channel, voltage-dependent, alpha 1 F CACNA1F 5 subumt

Calcium Channel, voltage-dependent, Alpha- CACNA1B 5

1B (CACNL1A5)

Calcium Channel, voltage-dependent, Alpha- CACNA1C 5 IC Calcium Channel, voltage-dependent, Alpha- CACNA1D 5

1 D

Calcium Channel, voltage-dependent, Alpha- CACNA1E 5

1 E (CACNL1 A6)

Calcium Channel, voltage-dependent, Alpha- CACNA2 5

2/detta

Calcium Channel, voltage-dependent, Beta 1 CACNB1 5

Calcium Channel, voltage-dependent, Beta 3 CACNB3 5

Calcium Channel, voltage-dependent, L type, CACNA1S 5 alpha IS subunit

Calcium Channel, voltage-dependent, CACNG2 5

Neuronal, Gamma

Calcium Channel, voltage-dependent, P/Q CACNA1A 5 type, alpha 1 A subunit

Calcium Channel, voltage-dependent, T-type 5

Calmodulin 1 CALM1 6

Calmodulin 2 CALM2 6

Calmodulin 3 CALM3 6

Calmodulin-dependant protein kinase 11 CAMK2A 6

Calnexin CANX 6

Carbonic anhydrase 3 CA3 1

Carbomc anhydrase 4 CA4 1

Carbomc anhydrase, alpha CA1 1

Carbomc anhydrase, beta CA2 1

Cardiac-specific homeobox, CSX CSX 6

Cartilage-hair hypoplasia gene CHH 5

Caspasel CASP1 6

Caspase 10 C ASP 10 6

Caspase 2 CASP2 6

Caspase 3 CASP3 6

Caspase 4 CASP4 6

Caspase 5 CASP5 6

Caspase 6 CASP6 6

Caspase 7 CASP7 6

Caspase 8 CASP8 6

Caspase 9 CASP9 6

Catenin, beta CTNNB1 6

CD1 CD1 4

CD10 CD10 4

CD4 CD4 4

CEA 6 4 Λ 2 Cell adhesion molecule, intercellular, IC AM ICAM1 6

Cell adhesion molecule, leukocyte-endothelial, LECAM1 6

LECAM (CD62)

Cell adhesion molecule, liver, LCAM LCAM 6

Cell adhesion molecule, neural, NCAM1 NCAM1 6

Cell adhesion molecule, neural, NCAM2 NCAM2 6

Cell adhesion molecule, platelet-endothelial, PECAM1 6

PECAM

Cell adhesion molecule, vascular, VCAM VCAM1 6 c-erbBl ERBB1 6 c-erbB2 ERBB2 6 c-erbB3 ERBB3 6 c-erbB4 ERB64 6

Ceruloplasmin precursor CP 1

Chemokine receptor CXCR1 CXCR1 4

Chemokine receptor CXCR2 CXCR2 4

Cholecystokmin CCK 5

Cholecystokinin B receptor CCKBR 5

Ciliary neurotropMc factor (CNTF) CNTF 6

Ciliary neurotropMc factor (CNTF) receptor CNTFR 6 c-kit receptor tyrosine kinase 6

Clathrin 2

Clusterin CLU 6

Collagen IV alpha 4 COL4A4 3

Collagen IV alpha 5 COL4A5 3

Collagen IV alpha 6 COL4A6 3

Colony-stimulating factor 1 CSF1 6

Colony-stimulating factor 1 receptor CSF1R 6

Colony-stimulating factor 2 CSF2 6

Colony-stimulating factor 2 alpha receptor CSF2RA 6

Colony-stimulating factor 2 beta receptor CSF2RB 6

Colony-stimulating factor 3 CSF3 6

Colony-stimulating factor 3 receptor CSF3R 6

Complement component Cl inMbitor C1NH 4

Complement component Clqa CIQA 4

Complement component Clqb CLQB 4

Complement component Clqg CLQG 4

Complement component Clr C1R 4

Complement component Cls C1S 4

Complement component C2 C2 4

Complement component C3 C3 4

Complement component C4A C4A 4

Complement component C4B C4B 4

Complement component C5 C5 4

Complement component C6 C6 4

Complement component C7 C7 4

Complement component C8 C8B 4 Complement component C9 C9 1

Complex III 1

Core-binding factor, alpha I CBFA1 6

Core-binding factor, alpha 2 CBFA2 6

Core-binding factor, beta CBFB 6

Corticotrophin-releasing hormone CRH 2

CorticotropMn-releasing hormone receptor CRHR1 2 c-src tyrosine kinase CSK 6

Cyclic AMP-dependent protein kinase PKA 1

Cyclin A CCNA 6

Cyclin B CCNB 6

Cyclin C CCNC 6

Cyclin D CCND1 6

Cyclin E CCNE 6

Cyclin F CCNF 6

Cyclin-dependent kinase 1 CDK1 6

Cyclin-dependent kinase 10 CDKI O 6

Cyclin-dependent kinase 2 CDK2 6

Cyclin-dependent kinase 3 CDK3 6

Cyclin-dependent kinase 4 CDK4 6

Cyclin-dependent kinase 5 CDK5 6

Cyclin-dependent kinase 6 CDK6 6

Cyclin-dependent kinase 7 CDK7 6

Cyclin-dependent kinase 8 CDK8 6

Cyclin-dependent kinase 9 CDK9 6

Cyclin-dependent kinase inMbitor 1A (P21, CDKN1A 6

CIPI)

Cyclin-dependent kinase inMbitor I B (P27, CDKN1B 6

KIP1)

Cyclin-dependent kinase inMbitor IC (P57, CDKN1C 6

KIP2)

Cyclin-dependent kinase inMbitor 2A (p 1 6) CDKN2A 6

Cyclin-dependent kinase inMbitor 3 CDKN3 6

Cyclooxygenase I COX1

Cyclooxygenase 2 COX2

CYP11A1 CYP11A1

CYP11B1 CYP11B1

CYP11B2 CYP11B2

CYP17 CYP17

CYP19 CYP19

CYP1A1 CYP1A1

CYP1A2 CYP1A2

CYP1B1 CYP1B1

CYP21 CYP21

GYP24 CYP24

CYP27 CYP27

CYP27B1 PDDR CYP2A1 CYP2A1

CYP2A13 CYP2A13

CYP2A3 CYP2A3

CYP2A6V2 CYP2A6V2

CYP2A7 CYP2A7

CYP2B6 CYP2B6

CYP2C18 CYP2C18

CYP2C19 CYP2C19

CYP2C8 CYP2C8

CYP2C9 CYP2C9

CYP2D6 CYP2D6

CYP2E1 CYP2E1

CYP2F1 CYP2F1

CYP2J2 CYP2J2

CYP3A3 CYP3A3

CYP3A4 CYP3A4

CYP3A5 CYP3A5

CYP3A7 CYP3A7

CYP4A11 CYP4A11

CYP4B1 CYP4B1

CYP4F2 CYP4F2

CYP4F3 CYP4F3

GYP51 CYP51

CYP5A1 CYP5A1

CYP7A CYP7A

CYP8 CYP8

CystatMonase CTH

CystatMone beta synthase CBS

Cystic fibrosis transmembrane conductance CFTR regulator, CFTR

Cytidine deaminase CDA

Cytidine-5-prime-triphosphate synthetase CTPS

Cytochrome a '

Cytochrome c

Cytochrome c oxidase, MTCO

Cytokine-suppressive antiinflammatory drug- CSBPl 4 binding protein 1

Cytokine-suppressive antiinflammatory drug- CSBP2 4 binding protein 2

Defender against cell death 1 DADl 6

Deleted in colorectal carcinoma DCC 6

Deleted in malignant brain tumours 1 DMBT1 6 Deoxycytidine kinase DCK 1 Deoxyuridine triphosphatase; dUTPase 1 Desert hedgehog, dhh 6 Dihydrofolate reductase DHFR 1 Dihydrolipoyl dehydrogenase 1 Dihyropyrimidine dehydrogenase DPYD 1

DM-Kinase DMPK 1

DNA damage binding protein, DDBI DDBI 3

DNA damage binding protein, DDB2 DDB2 3

DNA directed polymerase, alpha POLA 1

DNA glycosylases 1

DNA helicases 1

DNA Ligase 1 LIG1 1

DNA methyltransferase DNMT 1

DNA polymerase 1 1

DNA polymerase 2 1

DNA polymerase 3 1

DNA primase 1

DNA-damage-inducible transcript 3 DDIT3 3

DNA-dependant RNA polymerase 1

DOPA decarboxylase DDC 1

Dopamine receptors Dl DRD1 5

Dopamine receptors D2 DRD2 5

Dopamine receptors D3 DRD3 5

Dopamine receptors D4 DRD4 5

Dopamine receptors D5 DRD5 5

Dynamin DNM1 6

DynorpMn receptor 5

Dysfedin DYS,DYSF 1

Dyskerin DKC1 3

EB1 6

Endoglin ENG 3

Endothelin 1 EDN1 5

Endothelin 2 EDN2 5

Endothelin 3 EDN3 5

Endothelin converting enzyme ECE 5

Endothelin receptor type A EDNRA 5

Endothelin receptor type B EDNRB 5

Enolase EN01 1

Ephrin receptor tyrosine kinase A EPHA 6

Ephrin receptor tyrosine kinase B EPHB 6

Epidermal growth factor EGF 6

Epidermal growth factor receptor EGFR 6

Estrogen receptor ESR 6

Eukaryotic initiation translation factor EIF4E 6

EWS RNA-binding protein EWSR1 6

Excision repair complementation group 1 ERCCI 1 protein

Excision repair complementation group 2 ERCC2 1 protein

Excision repair complementation group 2 ERCC3 1 protein Excision repair complementation group 4 ERCC4 1 protein

Excision repair complementation group 6 ERCC6 1 protein

Exostosin 1 EXT1 3

Exostosin 2 EXT2 3

FADH dehydrogenase 1

Fancom anemia, complementation group C FANCC 2

Fanconi anemia, complementation group D FANCD 2

Fc fragment of IgG, Mgh affimty IA, receptor for FCGRL A 6

Fc fragment of IgG, low affimty Ha, receptor for FCGR2A 6

(CD32)

Fc fragment of IgG, low affimty lila, receptor for FCGR3A 6

(CD 16)

Ferrochelatase FECH 1

Fibrillin 1 FBN1 6

Fibroblast growth factor FGF1 6

Fibroblast growth factor receptor 1 FGFR1 6

Fibroblast growth factor receptor 2 FGFR2 6

Fibroblast growth factor receptor 3 FGFR3 6

Fibronectin precursor FN1 6

Folie acid receptor FOLR 6

Follicle stimulating hormone receptor FSHR,ODGl 6

Follicle stimulating hormone, FSH FSHB 6

Follicular lymphoma variant translocation 1 FVT1 4

Forkhead rhabdomyosarcoma gene FKHR 6

Forkhead transcription factor 14 FKHL14 6

Forkhead transcription factor 7 FKHL7 6

Fucosyltransferase 2 FUT2 2

Fucosyltransferase 3 FUT3 2

GIT mismatch binding protein GTBP,MSH6 6

GABA receptor, alpha 1 GABRA1 5

GABA receptor, alpha 2 GABRA2 5

GABA receptor, alpha 3 GABRA3 5

GABA receptor, alpha 4 GABRA4 5

GABA receptor, alpha 5 GABRA5 5

GABA receptor, alpha 6 GABRA6 5

GABA receptor, beta 1 GABRB1 5

GABA receptor, beta 2 GABRB2 5

GABA receptor, beta 3 GABRB3 5

GABA receptor, gamma 1 GABRG1 5

GABA receptor, gamma 2 GABRG2 5

GABA receptor, gamma 3 GABRG3 5

Gadd45 (growth arrest & DNA-damage-inducible protein) 1

Galactosyltransferase 1 GT1 6

Galactosyltransferase, alpha 1,3 GGTA1 6

Galactosyltransferase, beta 3 B3GALT 6 Gastrin GAS 6

Gastrin releasing peptide GRP 2

Glioma cMoride ion Channel, GCC 6

Glucagon receptor GCGR 6

Glucagon synthase 2

Glucocorticoid receptor GRL 6

Glutamate receptor 1 GLUR1 5

Glutamate receptor 2 GLUR2 5

Glutamate receptor 3 GLUR3 5

Glutamate receptor 4 GLUR4 5

Glutamate receptor 5 GLUR5 5

Glutamate receptor 6 GLUR6 5

Glutamate receptor 7 GLUR7 ^• 5

Glutamate receptor, ionotropic, NMDA 1 NMDAR1 5

Glutamate receptor, ionotropic, NMDA 2A NMDAR2A 5

Glutamate receptor, ionotropic, NMDA 2B NMDAR2B 5

Glutamate receptor, ionotropic, NMDA 2C NMDAR2C 5

Glutamate receptor, ionctropic, NMDA 2D NMDAR2D 5

Glutat one GSH 2

GlutatMone S-transferase mu 1, GSTMI GSTMI 1

GlutatMone S-transferase theta 1, GSTT1 GSTT1 1

GlutatMone S-transferase, GSTZI GSTZI 1

Glyceraldehyde-3 -phosphate dehydrogenase, GAPDH 1

GAPDH

Glycerol kinase GK 1

Glycinamide ribonucleotide (GAR) GART 1 transfoπnylase

Glycine receptor, alpha GLRA2 5

Glycine receptor, beta 5

Glycine transporter GLYT 5

Glypican 3 GPC3, SDYS 6

Gonadotropin releasing hormone GNRH 6

Gonadotropin releasing hormone receptor GNRHR 6

Growth factor receptor-bound protein 2 GRB2 6

Growth hormone 1 GH1 6

Growth hormone 2 (placental) GH2 6

Growth hormone receptor GHR 6

Growth hormone releasing hormone (GHRH) GHRH 6

Growth hormone releasing hormone receptor GHRHR 6

Growth/differentiation factor 5 GDF5 6

Growth-regulated protein precursor, GRO GRO 4

GTPase-activating protein, GAP RASA1 6

Guamne nucleotide-binding protein, alpha GNAI1 5 inMbiting activity polypeptide 1, GNA11

Guamne nucleotide-binding protein, alpha GNAI2 inMbiting activity polypeptide 2, GNA12 Guanine nucleotide-binding protein, alpha GNAI3 5 inMbiting activity polypeptide 3, GNA13

Guanine nuclootide-binding protein, alpha GNAS1 5 stimulating activity polypeptide, GNAS1

Guanine nucleotide-binding protein, alpha GNAS2 5 stimulating activity polypeptide, GNAS2

Guamne nucleotide-binding protein, alpha GNAS3 5 stimulating activity polypeptide, GNAS3

Guanine nucleotide-binding protein, alpha GNAS4 5 stimulating activity polypeptide, GNAS4

Guamne nucleotide-binding protein, q GNAQ 5 polypeptide

Guanylate kinase 1

H(+), K(+) - ATPase ATP4B 5

Hairless HR 6

Heia tumor suppression gene HTS1 6

Heparin binding epidermal growth factor HBEGF 6

Hepatitis 8 virus Integration site 1 HVBS1 4

Hepatitis B virus Integration site 2 HVBS6 4

High mobility group protein C HMGIC 6

High mobility group protein Y HMGIY 6

Histamine receptors, Hl 5

Histamine receptors, H2 5

Histamine receptors, H3 5

HLH transcription factor HAND1 HAND1 6

HLH transcription factor HAND2 HAND2 6

HMG-CoA reductase HMGCR 1

HMG-CoA synthase HMGCS2 1

Homeobox (HOX) gene AI 3 HOXA13 6

Homeobox 11 HOX11 6

Homeobox HB24 HLX1 6

Homogentisate 1,2 dioxygenase HGD 1

Hormone-sensitive lipase HSL 1

HSSB, replication protein 1

Human placental lactogen CSH1 6 bonucleoside diphosphate redudtase 1

Ikaros gene IKAROS 6

InMbin, alpha INHA 6

InMbin, beta A INHBA 6

InMbin, beta B INHBB 6

InMbin, beta C INHBC 6

Inositol 1,4,5-triphosphate receptor 3 ITPR3 6

Insulin INS 6

Insulin receptor INSR 6

Insulin-like growth factor 1 IGF1 6

Insulin-like growth factor 1 receptor IGF1R 6

I nsulin-like growth factor 2 IGF2 6 Insulin-like growth factor 2 receptor IGF2R 6 Integrin beta 1 ITGB1 6 Integrin beta 2 ITGB2 6 Integrin beta 3 ITGB3 6 Mtegrin beta 4 ITGB4 6 Integrin beta 5 ITGB5 6 Integrin beta 6 ITGB6 6 Integrin beta 7 ITGB7 6 Integrin, alpha 1 ITGA1 6 Integrin, alpha 2 ITGA2 6 Integrin, alpha 4 ITGA4 6 Integrin, alpha 5 ITGA5 6 Integrin, alpha 6 ITGA6 6 Integrin, alpha M ITGAM 6 Interferon alpha IFNA1 4 Interferon beta IFNB 4 Interferon gamma IFNG 4 Interferon gamma receptor 1 IFNGR1 4 Interferon gamma receptor 2 IFNGR2 4 Interferon regulatory factor 1 IRF1 4 Interferon regulatory factor 4 IRF4 4 Interleukin(IL) I receptor ILIR 4 Interleukin(IL) 1, alpha ILIA 4 lnterleukin(IL) 1, beta ILIB 4 Interleukin(IL) 10 IL10 4 Interleukin(IL) 10 receptor IL10R 4 Interleukin(IL) 11 IL11 4 lnterleukin(IL) 1 1 receptor IL11R 4 Interleukin(IL) 12 IL12 4 Interleukin(IL) 12 receptor, beta I IL12RB1 4 Interleukin(IL) 13 IL13 4 Interleukin(IL) 13 receptor IL13R 4 Interleukin(IL) 2 IL2 4 Interleukin(IL) 2 receptor, alpha IL2RA 4 lnterleukin(IL) 2 receptor, gamma IL2RG 4 Interleukin(IL) 3 IL3 4 Interleukin(IL) 3 receptor IL3R 4 Interleukin(IL) 4 IL4 4 Interleukin(IL) 4 receptor IL4R 4 lnterleukin(IL) 5 IL5 4 Interleukin(IL) 5 receptor IL5R 4 Interleukin(IL) 6 IL6 4 Interleukin(IL) 6 receptor IL6R 4 Interleukin(IL) 7 IL7 4 Interleukin(IL) 7 receptor IL7R 4 lnterleukin(IL) 8 IL8 4 Interleukin(IL) 8 receptor IL8R 4 lnterleukin(IL) 9 IL9 4

Mterleukin(IL) 9 receptor IL9R 4

Mterleukin(IL) receptor antagomst I IL1RN, IL1RA 4

Janus kinase 1 JAK1 6

Janus kinase 2 JAK2 6

Janus kinase 3 JAK3 6

Lammin 5, alpha 3 LAMA3 6

Lamimn 5, beta 3 LAMB3 6

Lamimn 5, gamma 2 LAMC2 6

Lamimn M LAMM 6

Lamimn receptor 1 LAMR1 6

Latent transforming growth factor-beta binding LTBP2 6 protein 2

Leptin LEP 6

Leptin receptor LEPR 6

Leukaemia inMbitory factor LIF 6

Leukaemia inMbitory factor receptor LIFR 6

Leukotriene A4 hydrolase 4

Leukotriene B4 receptor 4

Leukotriene C4 receptor 4

Leukotriene D4/E4 receptor 4

LH/choriogonadotropin (CG) receptor LHCGR 6

LIM homeobox protein 1 LHX1 6

LIM. homeobox protein 2 LHX2 6

LIM homeobox protein 3 LHX3 6

LIM homeobox protein 4 LHX4 6

Limbic associated membrane protein LAMP 6

LIM-domain oMy protein 1 LMO1 6

LIM-domain oMy protein 2 LMO2 6

LIM-domain oMy protein 3 LMO3 6

LIM-domain oMy protein 4 LMO4 6

Lipoma-preferred partner gene LPP 6

Lipoxygenase 12 (platelets) LOG12 4

Lipoxygenase 5 (leukocytes) 4

Long QT-type 2 potassium Channels LQT2, KCNH2 2

Löwe oculocerbrorenal syndrome gene OCRL 1

Luteimzing hormone-releasing hormone 5

Luteimzing hormone-releasing hormone 5 receptor

Lymphoblastic leukemia derived sequence 1 LYL1 4

Lymphocyte-specific protein tyrosine kinase LCK 4

Lymphoid emiancer-binding factor LEF-1 6

Macrophage activating factor MAF 4

MAD (mothers against decapentaplegic, MADH3 6

DrosopMla) homologue 3

MAD (mothers against decapentaplegic, MADH4

DrosopMla) homologue 4 MADS box transcription-enhancer factor 2A MEF2A 6

MADS box transcription-enhancer factor 2B MEF2B 6

MADS box transcription-enhancer factor 2C MEF2C 6

MADS box transcnption-enhancer factor 2D MEF2D 6

Malignant proliferation, eosinopMl gene MPE 4

MAPK kinase 1 MAPKK1; MEK1 6

MAPK kinase 4 MAPKK4; MEK4; 6

SERK1

MAPK kinase 6 MAPKK6; MEK6 6

MAPKK kinase MAPKKK 6

MAX-interacting protein 1 MXI 1 6

MEK kinase, MEKK 1

Melanocortin 1 receptor MCI R 2

Menin MEN1 6

MetMonine adenosyltransferase MAT1 A, MAT2A 1

MetMomne synthase MTR 1

MetMonine synthase reductase MTRR 1

Methylguanine-DNA methyltransferase MGMT 1

MHC Class 1: A 4

MHC Class 1: B 4

MHC Class 1: C 4

MHC Class 1: LMP-2, LMP-7 4

MHC Class 1: Tapl ABCR,TAP1 4

MHC Class 11: DP HLA-DPBL 4

MHC Class II: DQ 4

MHC Class II: DR 4

MHC Class II: Tap2 TAP2,PSF2 4

MHC Class I Complementation group A MHC2TA 4

MHC Class ILComplementation group B rfxank 4

MHC Class ILComplementation group C RFX5 4

MHC Class ILComplementation group D RFXAP 4

Midline 1 MIDI 6

Mismatch,repair gene, PMSL1 PMS1 6

Mismatch repair gene, PMSL2 PMS2 6

Mitogen-activated protein (MAP) kinase MAPK 6

Motilin MLN 6

Msh homeobox homolog 1 MSX1 6

Msh homeobox homolog 2 MSX2 6

Mucin 18 MUC18 2

Muscarinic receptor, Ml CHRM1 5

Muscarinic receptor, M2 CHRM2 5

Muscarimc receptor, M3 CHRM3 5

Muscarimc receptor, M4 CHRM4 5

Muscarinic receptor, M5 CHRM5 5

Mutated in colorectal cancers, MCC MCC 6

MutL homolog 1 MLHI 6

MutS homolog 2 MSH2 6 MutS homolog 3 MSH3 6

Myelin protein peripheral 22 PMP22 3

Myelodysplasia syndrome 1 gene MDS1 6

Myeloid leukemia factor- 1 MLF1 4

N-acetyltransferase 1 NAT1 1

N-acetyltransferase 2 NAT2 1 reductase

Nerve growth factor NGF 6

Nerve growth factor receptor NGFR 6

Neuregulin HGL 6

Neurexin 5

Neurofibromin 1 NF1 6

Neurofibromin 2 NF2 6

Neurokimn A NKNA 5

Neurokimn B NKNB 5

Neuronal apoptosis inMbitory protein NAIP 4

Neuropeptide Y NPY 5

Neuropeptide Y receptor Yl NPY1R 5

Neuropeptide Y receptor Y2 NPY2R 5

Neurotensin NTS 5

Neurotensin receptor NTSR1 5

NeurotropMc tyrosine kinase receptor 1 NTRK1 6

Neutral endopeptidase 1

Niacin receptor 6

Nodal NODAL 6

Norrie disease protein NDP 6

Notch 3 NOTCH3 6

Notch ligand - jagged 1 JAG 1, AGS 6

Nuclear factor kappa beta NFKB 4

Nuclear factor of activated T cells (NFAT) NFATC 6 complex, cytosolic

Nuclear factor of activated T cells (NFAT) NFATP 6 complex, preexisting component

Nuclear mitotic apparatus protein 1 NUMA1 6

Nucleophosmin NPM1 2

Oligophrenin-1 OPHN1 6

Oncogene abll ABLI 6

Oncogene abl2 6

Oncogene aktl 6

Oncogene akt2 AKT2 6

Oncogene axl AXL 6

Oncogene bcl2 6

Oncogene bcr/abi 6

Oncogene B-lym 6

Oncogene B-raf 6

Oncogene clkl 6

Oncogene c-myc 6 ^0 ^) ^l *0 ^, ^O ^O ^O ^O O ^O ^,0 ^, O ^{, ,}θ y5 \0 ^, ^0 ^0 \0 *0 ^0 ⁽0 *0 *O ^O O ^O VO O ^O O ^O ^,>D ^O \O ^Ü ^O \0 \O ^O O *0 ⁽ o ω Q H U α.

IT)

Oncogene myc MYC 6

Oncogene n-myc 6

Oncogene N-ras (neuroblastoma v-ras) NRAS 6

Oncogene ovc 6

Oncogene piml 6

Oncogene pti-1 sea 6

Oncogene pvtl 6

Oncogene raf RAF 6

Oncogene ralb 6

Oncogene rel 6

Oncogene ret RET 6

Oncogene r-myc 6

Oncogene ros 6

Oncogene R-ras 6

Oncogene sis PDGFB 6

Oncogene ski 6

Oncogene sno 6

Oncogene spil 6

Oncogene src 6

Oncogene tc21 6

Oncogene TEL ETV6 6

Oncogene tim 6

Oncogene vavtrk 6

Oncogene v-Ki-ras2 KRAS2 6

Oncogene yes 6

Oncogene yuasa 6

Oncostatin M OSM 6

Oncostatin M receptor OSMR 6

Opioid receptor, delta OPRD1 5

Opioid receptor, kappa OPRK1 5

Opioid receptor, mu OPRM1 5

Orexin OX 6

Osteopontin OPN 6

Oxytocin OXT 5

Oxytocin receptor OXTR 5

Paired box homeotic gene 3 PAX3 6

Paired box homeotic gene 6 PAX6 6

Paired box homeotic gene 7 PAX7 6

Paired-like homeodomain transcription factor 2 PITX2 6

Paired-like homeodomain transcription factor 3 PITX3 6

Parathyroid hormone PTH 6

Parathyroid hormone receptor PTHR1 6

Parathyroid hormone related-peptide PTHRP 6

Parvalbumin PVALB 6

Patched (DrosopMla) homolog, PTCH PTCH 6

PCNA (proliferating cell nuclear antigen) 1

Peanut-like 1 PNUTL1 4 Peroxisome proliferative activated receptor, PPARA alpha

Peroxisome proliferative activated receptor, PPARG gamma

P-glycoprotein 1 PGY1 2

P-glycoprotein 3 PGY3 2

Phenylalanine hydroxylase PAH 1

Phosphatase & tensin homolog PTEN 6

Phosphatidylinositol glycan, class A PIGA 6

(paroxysmal nocturnal hemoglobinuria)

Phospholipase A2, group 10 PLA2G 10 4

Phospholipase A2, group 1B PLA2G1B 4

Phospholipase A2, group 2A PLA2G2A 4

Phospholipase A2, group 2B PLA2G2B 4

Phospholipase A2, group 4A PLA2G4A 4

Phospholipase A2, group 4C PLA2G4C 4

Phospholipase A2, group 5 PLA2G5 4

Phospholipase A2, group 6 PLA2G6 4

Phospholipase C epsilon 4

Phosphomannomutase 1 PMM1 6

Phosphomannomutase 2 PMM2 6

Plasminogen PLG 1

Plasminogen activator inMbitor 1 PAH 1

Plasminogen activator inMbitor 2 PAI2 1

Plasminogen activator receptor, Urokinase UPAR;PLAUR 3

Plasminogen activator, Tissue PLAT;TPA 1

Plasminogen activator, Urokinase UPA;PLAU 1

Platelet derived growth factor PDGF 6

Platelet derived growth factor receptor PDGFR 6

Platelet glycoprotein lb, beta GP1BB 4

Platelet glycoprotein I b, gamma GP1BG 4

Platelet glycoprotein IX GP9 4

Platelet glycoprotein V GP5 4

Potassium inwardly-rectifying Channel Jl KCNJ1 5

Potassium inwardly-rectifying Channel Jl 1 KCNJ11 5

Potassium voltage-gated Channel AI KCNA1 5

Potassium voltage-gated Channel El KCNE1 5

Potassium voltage-gated Channel Ql KCNQl 5

Potassium voltage-gated Channel Q2 KCNQ2 5

Potassium voltage-gated Channel Q3 KCNQ3 5

POU domain, class 1, transcription factor 1 POUIFI 6

(Pitl)

POU domain, class 3, transcription factor 4 POU3F4 6

POU domain, class 4, transcription factor 3 POU4F3 6

Pre-B-cell leukemia transcription factor 1 PBXL 6

Preproglucagon GCG;GLPL; GLP2 6

Preproglucagon 2 Prion protein PRNP 5

Prodynorphin 5

ProMbitin PHB 6

Prolactin PRL 6

Prolactin receptor PRLR 6

Prolactin releasing hormone PRH 6

Proliferin PLF 6

Promyelocytic-leukemia gene PML 6

Proopiomelanocortin POMC 5

Prophet of Pitl PROP1 6

Prostacyclin synthase 4

Prostagiandin 15 -OH dehydrogenase HGPD; PGDH 4

Prostaglandin D - DP receptor 4

Prostagiandin El receptor 4

Prostaglandin E2 receptor 4

Prostagiandin E3 receptor 4

Prostaglandin F - FP receptor 4

Prostagiandin IP receptor 4

Prostate cancer anti-metastasis gene KAI I KAU 6

Protein kinase B PRKB

Protein kinase C, alpha PRKCA 1

Protein phosphatase 2, regulatory subumt A, PPP2R1B 1 beta isoform

Protein tyrosine phosphatase, non-receptor PTPN12 6 type 12

Purine nucleoside phosphorylase NP 1

Purinergic receptor P1A1 5

Purinergic receptor P1A2 5

Purinergic receptor Pl A3 5

Purinergic receptor P2X, 1 P2RX1 1

Purinergic receptor P2X, 2 P2RX2 5

Purinergic receptor P2X, 3 P2RX3 5

Purinergic receptor P2X, 4 P2RX4 5

Pudnergic receptor P2X, 5 P2RX5 5

Purinergic receptor P2X, 6 P2RX6 5

Purinergic receptor P2X, 7 P2RX7 5

Purinergic receptor P2Y, 1 P2RY1 5

Purinergic receptor P2 Y, 11 P2RY11 5

Purinergic receptor P2Y, 2 P2RY2 5

RabpMlin 5

RAD51, DNA repair protein RAD51 6

RAD52, DNA repair protein RAD52 6

RAD54, DNA repair protein RAD54 6

RAD55, DNA repair protein RAD55 6

RAD57, DNA repair protein RAD57 6

RAS-associated protein, RAB3 A RAB3A 5

Ras-G-protein RAS 6 Receptor tyrosine kinase (RTK), Nsk2 NSK2 6

Relaxin Hl RLN1 6

Relaxin H2 RLN2 6

Replication factor A 1

Replication factor C RFC2 1

Retinoblastoma 1 RB1 6

Retinoic acid receptor, alpha RARA 6

Retinoic acid receptor, beta RARB 6

Retinoic acid receptor, gamma RARG 6

RetinoscMsis, X-linked, juvenile RS 6

Rhabdoid tumors SMARCSI 6

Ribonucleotide reductase, RRM 1

Ribosomal protein L13A RPL13A 6

Ribosomal protein L17 RPL17 6

Ribosomal protein S6 kinase RPS6KA3 1

RIGUI RIGUI 6

Rim 5

Ryanodine receptor 1, skeletal RYR1 6

S-adenosylmetMomne decarboxylase, AMD 1

SAP (SLAM-associated protein) SH2D1A 4

Secretin SCT 2

Secretin receptor, SCTR SCTR 2

Serine hydroxymethyltransferase SHMT 1

Serine/threonine kinase 11 STK11 6

Serine/threomne kinase 2 STK2 6

Serotomn receptor, 5HT1 A HTR1A 5

Serotonin receptor, 5HT1B HTR1B 5

Serotomn receptor, 5HT1C HTR1C 5

Serotomn receptor, 5HT1D HTR1D 5

Serotonin receptor, 5HT1E HTR1E 5

Serotomn receptor, 5HT1F HTR1F 5

Serotomn receptor, 5HT2A HTR2A 5

Serotonin receptor, 5HT2B HTR2B 5

Serotomn receptor, 5HT2C HTR2C 5

Serotomn receptor, 5HT3 HTR3 5

Serotomn receptor, 5HT4 HTR4 5

Serotonin receptor, 5HT5 HTR5 5

Serotonin receptor, 5HT6 HTR6 5

Serotonin receptor, 5HT7 HTR7 5

Signal transducer and activator of transcription STATI 6

I

Signal transducer and activator of transcription STAT2 6

2

Signal transducer and activator of transcription STAT3 6

3

Signal transducer and activator of transcription STAT4 6

4 Signal transducer and activator of transcription STAT5

5

Signaling lymphocyte activation molecule SLAM 4

Sine oculis homeobox, drosopMla, homolog 1 srxi 6

Sine oculis homeobox, drosopMla, homolog 2 SIX2 6

Sine oculis homeobox, drosopMla, homolog 5 SIX5 6

Small nuclear ribonucleoprotein polypeptide N SNRPN 3

Smoothened (DrosopMla) homolog SMOH 6

Sodium Channel, non-voltage gated 1, alpha SCNN1A 5

Sodium Channel, non-voltage gated 1, beta SCNN1B 5

Sodium Channel, non-voltage gated 1, gamma SCNN1G 5

Sodium Channel, voltage gated, type V, alpha SCN5A 5 polypeptide

Sodium Channel, voltage-gated, type 1, beta SCN1B 5 polypeptide

Solute carrier family 1 (glutamate transporter), SLC1A1 2 member 1

Solute carrier family 1 (glutamate transporter), SLC1A2 2 member 2

Solute carrier family 12, member 1 SLC12A1 2

Solute carrier family 12, member 2 SLC12A2 2

Solute carrier family 12, member 3 SLC12A3 2

Solute carrier family 19 (folate transporter), SLC19A1 2 member 1

Solute carrier family 25, member 12 SLC25A12 2

Solute carrier family 5 (sodium/glucose SLC5A1 2 transporter), member 1

Solute carrier family 5 (sodium/glucose SLC5A2 2 transporter), member 2

Solute carrier family 5 (sodium/glucose SLC5A5 2 transporter), member 5

Solute carrier family 5, member 3 SLC5A3 2

Solute carrier family 6 (GAMMA- SLC6A1 2

AMINOBUTYRIC ACID transporter), member 1

Solute carrier family 6 (neurotransmitter SLC6A3 2 transporter, dopamine), member 3

Solute carrier family 6 (neurotransmitter SLC6A2 2 transporter, noradrenaline), member 2

Solute carrier family 6 (neurotransmitter SLC6A4 2 transporter, serotonin), member 4

Somatostatin SST 5

Somatostatin receptor, SSTR1 SSTR1 5

Somatostatin receptor, SSTR2 SSTR2 6

Somatostatin receptor, SSTR3 SSTR3 5

Somatostatin receptor, SSTR4 SSTR4 5

Somatostatin receptor, SSTR5 SSTR5 5

Sorcin SRI 2 SOSI guanine nucleotide exchange factor SOSI 6

SRY-box l l SOX11 6

Stern cell factor SCF 6

Steroid hormone receptor responsive DNN 6 elements

Steroidogemc acute regulatory protein STAR 2

Substance P 5

Sulfonylurea receptor SUR 6

Suppression of tumorigemcity 3 gene ST3 6

Suppression of tumorigemcity 8 gene ST8 6

Surfeit 1 SURFl 6

Synapsin I a & lb SYN1 5

Synapsin 2a & 2b SYN2 5

Synaptic vesicle protein 2 SV2 5

Synaptobrevin 1 SyBl 5

Synaptobrevin 2 SYB2 5

Synaptogyrin 5

Synaptophysin SYP 5

Synaptosomal-associated protein, 25KD SNAP25 5

Synaptotagmin 1 SYT1 5

Synaptotagmin 2 SYT2 5

Syndecan 1 SYND1 6

Syndecan 2 SYND2 6

Syndecan 3 SYND3 6

Syndecan 4 SYND4 6

Synovial sarcoma gene 1 SSX1 6

Synovial sarcoma gene 2 SSX2 6

Syntaxin 1 STX1 5

Tachykimn receptor, ΝK1R TACR1 5

Tachykimn receptor, ΝK2R TACR2 5

Tachykimn receptor, NK3R TACR3 5

Talin TLN 6

Talin, TLN 3

T-cell acute lymphocytic leukemia 1 TAL1 4

T-cell acute lymphocytic leukemia 2 TAL2 4

T-cell receptor, alpha TCRA 4

T-cell receptor, delta TCRD 4

Telomerase protein component 1

Tenascin (cytotactin) 3

Tenascin XA TNXA 3

Terminal deoxynucleotidyltransferase, TDT 1

Testis-specific protein Y TSPY 6

TMombopoietin THPO 6

Thromboxane A synthase 1 TBXAS1 4

TMomboxane A2 TXA2 4

TMomboxane A2 receptor TBXA2R 4

Thy-1 T-cell antigen THY1 4 Thymidylate synthase TYMS 1

Thymopoietin TMPO 6

Thymosin 4

Thyroid-stimulating hormone receptor TSHR 6

Thyroid-stimulating hormone, alpha TSHA 6

Thyroid-stimulating hormone, beta TSHB 6

Thyrotropin releasing hormone TRH 5

Thyrotropin releasing hormone TRH 6

Thyrotropin releasing hormone receptor TRHR 5

Tip-associated protein TAP 4

Tissue inMbitor of metalloproteinase 1, TIMP1 TIMP1

Tissue inMbitor of metalloproteinase 2, TIMP2 TIMP2

Tissue inMbitor of metalloproteinase 3, TIMP3 TIMP3

TissueinMbitorofmetalloproteinase4,TIMP4 TIMP4

Topoisomerase II

Transacylase

Transcobalamin 1, TCN1 2

Transcobalamin 2, TCN2 TCN2 2

Transcription factor 1, hepatic TCF1 6

Transcription factor 2, hepatic TCF2 6

Transcription factor 3 TCF3 6

Transcription factor binding to IGHM enhancer TFE3 6

3

Transcription termination factor, RNA TTF1 6 polymerase 1

Transcription termination factor, RNA TTF2 6 polymerase 2

Transcription termination factor, RNA TTF3 6 polymerase 3

Transferrin TF 6

Transferrin receptor TFRC 6

Transforming growth factor, alpha TGFA 6

Transforming growth factor, beta 2 TGFB2 6

Transforming growth factor, beta induced TGFBI 6

Transforming growth factor, beta receptor 2 TGFBR2 6

Translocation in renal carcinoma on TRC8 6 cMomosome 8 gene

Tuberous sclerosis 1 TSC1 6

Tuberous sclerosis 2 TSC2 6

Tubulin 3

Tumor susceptibility gene 101 TSG101 6

Tumour necrosis factor (TNF) receptor TRAF1 4 associated factor 1

Tumour necrosis factor (TNF) receptor TRAF2 4 associated factor 2

Tumour necrosis factor (TNF) receptor TRAF3 4 associated factor 3 Tumour necrosis factor (TNF) receptor TRAF4 4 associated factor 4

Tumour necrosis factor (TNF) receptor TRAF5 4 associated factor 5

Tumour necrosis factor (TNF) receptor TRAF6 4 associated factor 6

Tumour necrosis factor alpha TNFA 4

Tumour necrosis factor alpha receptor TNF AR 4

Tumour necrosis factor beta TNFB 4

Tumour necrosis factor beta receptor TNFBR 4

Tumour protein p53 TP53,P53 6

Tumour protein p63 TP63 6

Tumour protein p73 TP73 6

Tumour protein, translationally-controlled 1 TPT1 6

Tumour suppresssor gene DRA DRA 4

Twist (DrosopMla) homolog TWIST 6

Ubiquitin 6

Ubiquitin activating enzyme, El 1

Ubiquitin B UBB 6

Ubiquitin C UBC 6

Ubiquitin fusion degeneration 1 -like UFD1L 6

Ubiquitin protein ligase E3 A UBE3A 1

Vacuolar proton pump, subunit 1 VPP1 5

Vacuolar proton pump, subunit 3 VPP3 5

Vasoactive intestmal polypeptide VIP 5

Vasoactive intestinal polypeptide receptor VIPR 5

Vitamin B12-binding (R) protein 6

Vitamin D receptor VDR 6 v-myc avian myelocytomatosis viral oncogene MYC 6 homolog

Von Hippel-Lindau gene VHL 6

Werner syndrome helicase WRN 6

Wilms tumour gene 1 VVT I 6

Wi ms tumour gene 2 WT2 6

Wilms tumour gene 4 WT4 6

Winged helix nude WHN 6

Wiskott-Aldrich syndrome protein WASP, THC 4

Xeroderma pigmentosum, complementation XPB group B

Xeroderma pigmentosum, complementation XPC group C

Xeroderma pigmentosum, complementation group D

Xeroderma pigmentosum, complementation group E

Xeroderma pigmentosum, complementation XPF group F Xeroderma pigmentosum, complementation ERCC5 group G

X-ray repair gene XRCC9 6

YY1 transcription factor YY1 6

Zinc finger protein HRX ALL1 4,

Legende für die Spalte Proteiiifiinktion:

1 Enzym 2 Transport und Lagerung

3 Struktur 4 Immunität

5 Nervale Transmission 6 Wachstum und Differenzierung

Tabelle 3 CNS-Fehlfunktion

Liste der Gene HUGO Protein¬

Gensymbol funktion

11 -beta hydroxysteroid dehydrogenase 2 HSD11B2

2,3-bisphosphoglycerate mutase BPGM

2,4-dienoyl CoA reductase DECR

3 beta hydroxysteroid dehydrogenase 2 HSD3B2

3-oxoacid CoA transferase OXCT

4-hydroxyphenylpyruvate dioxygenase HPD

5 , 10-methylenetetrahydrofolate reductase MTHFR

(NADPH)

6-pyruvoyltetrahydropterin synthase PTS

Acetoacetyl 2-CoA-tMolase ACAT2

Acetyl CoA acyltransferase ACAA

Acetyl CoA carboxylase alpha ACACA

Acetylcholine receptor, nicotimc, alpha AI CHRNAI 5

Acetylcholine receptor, nicotimc, alpha A2 CHRNA2 5

Acetylcholine receptor, nicotimc, alpha A3 CHRNA3 5

Acetylcholine receptor, nicotimc, alpha A4 CHRNA4 5

Acetylcholine receptor, nicotimc, alpha A5 CHRNA5 5

Acetylcholine receptor, nicotimc, alpha A6 CHRNA6 5

Acetylcholine receptor, nicotinic, alpha A7 CHRNA7 5

Acetylcholine receptor, nicotimc, beta 1 CHRNB1 5

Acetylcholine receptor, nicotimc, beta 2 CHRNB2 5

Acetylcholine receptor, nicotimc, beta 3 CHRNB3 5

Acetylcholine receptor, nicotimc, beta 4 CHRNB4 5

Acetylcholine receptor, mcotimc, epsilon CHRNE 5

Acetylcholine receptor, nicotimc, gamma CHRNG 5

Acetylcholinesterase ACHE

Acyl CoA dehydrogenase, long chain ACADL

Acyl CoA dehydrogenase, medium chain ACADM

Acyl CoA dehydrogenase, short chain ACADS

Acyl-CoA t oesterase

Adaptin, beta 3 A ADTB3A 2

Adducin, alpha ADD1 3

Adducin, beta ADD2 3

Adenosine monophosphate deaminase AMPD 1

Adenosine receptor AI ADORA1 5

Adenosine receptor A2A ADORA2A 5

Adenosine receptor A2B ADORA2B 5

Adenosine receptor A3 ADORA3 5

Adenyl cyclase 5

Adenylate cyclase I ADCY1 1 Adenylate cyclase 2 ADCY2

Adenylate cyclase 3 ADCY3

Adenylate cyclase 4 ADCY4

Adenylate cyclase 5 ADCY5

Adenylate cyclase 6 ADCY6

Adenylate cyclase 7 ADCY7

Adenylate cyclase 8 ADCY8

Adenylate cyclase 9 ADCY9

Adenylosuccinate lyase ADSL

Adrenergic receptor, alphal ADRAL 5

Adrenergic receptor, alpha2 ADRA2 5

Adrenergic receptor, betal ADRB1 5

Adrenergic receptor, beta2 ADRB2 5

Adrenergic receptor, beta3 ADRB3 5

AdrenocorticotropMc hormone (ACTH) ACTHR 6 receptor

Adrenoleukodystrophy gene ALD 1

Albumin, ALB ALB 2

Aldehyde dehydrogenase 10 ALDH10 1

Aldolase A ALDOA 1

Aldolase B ALDOB 1

Aldolase C ALDOC 1

Aldosterone receptor MLR 6

Alpha 2 macroglobulin A2M 4 alpha tectorin TECTA 6 alpha thalassemia gene ATRX 5 alphal -antitrypsin PI alpha2-antiplasmin PLI alpha-Galactosidase A GLA alpha-ketoglutarate dehydrogenase alpha-L-Iduromdase IDUA alpha-synuclein SNCA 5

Amino ethyltransferase AMT

Aminopeptidase P XPNPEP2

Amylo- 1 , 6-glucosidase AGL

Amyloid beta (A4) precursor protein-binding, APBB1 5

APBB1

Amyloid beta A4 precursor protein APP 5

Amyloid beta A4 precursor-like protein APLP 5

Angiopoietin 1 ANGPT1 6

Angiopoietin 2 ANGPT2 6

Angiotensin converting enzyme ACE, DCP1 1

Angiotensin receptor 1 AGTR1 2

Angiotensin receptor 2 AGTR2 2

Angiotensinogen AGT 1

Antidiuretic hormone receptor ADHR 2

Antithrombin III AT3 1 Apolipoprotein A I APOA1 2

Apolipoprotein A ll APOA2 2

Apolipoprotein B APOB 2

Apolipoprotein Cl APOC1 2

Apolipoprotein C2 APOC2 2

Apolipoprotein C3 APOC3 2

Apolipoprotein D APOD 2

Apolipoprotein E APOE 2

Apolipoprotein H APOH 2

Archaete-scute homolog 2 ASH2 6

Arginase ARG1 1

Arginine vasopressin AVP 5

Arginosuccinate lyase ASL

Nrginosuccinate synthetase ASS

Arylsulfatase A ARSA

Arylsulfatase B ARSB

Arylsulfatase D ARSD

Arylsulfatase E ARSE

Arylsulfatase F ARSF

Aspaftoacylase ASPA

Aspartylglucosamimdase AGA

Astrotactin ASTΝ 6

Ataxia telangiectasia complementation group ATD,ATDC 6

D

Ataxia telangiectasia gene, AT ATM 6

ATP-binding cassette transporter 7 ABC7 4

Atriai natriuretic peptide AΝP 6

Atriai natriuretic peptide receptor A ΝPR1 6

Atriai natriuretic peptide receptor B ΝPR2 6

Atriai natriuretic peptide receptor C NPR3 6

Bagpipe homeobox, drosopMla homolog of, 1 BAPX1 6 beta-Glucuronidase GUSB 1 beta-synuclein SNCB 5

Bilirubin UDP-glucuronosyltransferase 1

Bloom syndrome protein BLM 6

Bradykinin receptor B 1

Bradykmin receptor B2

Brain derived neurotrophic factor BDNF 6

Brain derived neurotropMc factor (BDΝF) BDNFR 6 receptor

Butyrylcholinesterase BCHE 1

Ca(2+) transporting ATPase, slow twitch ATP2A2 2

Cadherin E CDH1 6

Cadherin EP 6

Cadherin Ν CDH2 6

Cadherin P CDH3 6

Calbindin 1 CALB1 6 Calbindin D9K CALB3 6

Calcineurin AI CALNA1

Calcineurin A2 CALNA2

Calcineurin A3 CALNA3

Calcineurin B

Calcitonin/Calcitomn gene-related peptide CALCA 5 alpha

Calcium Channel, voltage-dependent, alpha CACNA1F 5

1 F subumt

Calcium Channel, voltage-dependent, Alpha- CACNA1B 5

1 B (CACNLI A5)

Calcium Channel, voltage-dependent, Alpha- CACNA1C 5

I C

Calcium Channel, voltage-dependent, Alpha- CACNA1D 5

1 D

Calcium Channel, voltage-dependent, Alpha- CACNA1E 5

I E (CACNLL A6)

Calcium Channel, voltage-dependent, Alpha- CACNA2 5

2/delta

Calcium Channel, voltage-dependent, Beta 1 CACNB1 5

Calcium Channel, voltage-dependent, Beta 3 CACNB3 5

Calcium Channel, voltage-dependent, L type, CACNA1S 5 alpha IS subunit

Calcium Channel, voltage-dependent, CACNG2 5

Neuronal, Gamma

Calcium Channel, voltage-dependent, P/Q CACNA1A 5 type, alpha 1 A subumt

Calcium Channel, voltage-dependent, T-type 5

Calmodulin 1 CALM1 6

Calmodulin 2 CALM2 6

Calmodulin 3 CALM3 6

Calmodulin-dependant protein kinase 11 CAMK2A 6

Calnexin CANX 6

Calpain CAPN,CAPN3 1

Calretinin CALB2 5

Cannabinoid receptor CNR1 5

Carbomc anhydrase 3 CA3 1

Carbomc anhydrase 4 CA4 1

Carbomc anhydrase, alpha CA1 1

Carbomc anhydrase, beta CA2 1

Cardiac-specific homeobox, CSX CSX 6

Carmtine acetyltransferase CRAT 1

Camitine acyicamitine translocase CACT 1

Camitine transporter protein CDSP, SCD 2

Carnosinase 5

Caspasel CASP1 6

Catechol-o-methyltransferase COMT 1 CD1 CD1

CD4 CD4

Cell adhesion molecule, neural, NCAM1 NCAM1 6

Cell adhesion molecule, neural, NCAM120 NCAM120 6

Cell adhesion molecule, neural, NCAM2 NCAM2 6

Ceroid lipofuscinosis neuronal 2 CLN2 5

Ceroid lipofuscinosis neuronal 3 CLN3 5

Ceroid lipofuscinosis neuronal 4 CLN4 5

Ceroid lipofuscinosis neuronal 5 CLN5 5

Ceroid lipofuscinosis neuronal 6 CLN6 5

Chemokine receptor CCR2 CCR2

Chemokine receptor CCR3 CCR3

Chemokine receptor CCR5 CCR5 4

Chemokine receptor CXCR4 CXCR4 4

CMoride Channel 1, skeletal muscle CLCN1 3

Cholecystokimn CCK 5

Cholecystokinin B receptor CCKBR 5

Choline acetyltransferase CHAT 1

Choroideremia gene CHM 3

Giromogramn A CHGA 6

Chymotrypsinogen 1

Ciliary neurotropMc factor (CNTF) CNTF 6

Ciliary neurotropMc factor (CNTF) receptor CNTFR 6

Clathrin 2

CoA transferase 1

CocMin COCH 4

Cockayne syndrome gene, CKN1 CKN1 6

Cofilin 3

Collagen I alpha 1 COL1A1 3

Collagen I alpha 2 COL1A2 3

Collagen II alpha 1 COL2A1 3

Collagen III alpha 1 COL3A1 3

Collagen IV alpha 1 COL4A1 3

Collagen IV alpha 2 COL4A2 3

Collagen IV alpha 3 COL4A3 3

Collagen IV alpha 4 COL4A4 3

Collagen IV alpha 5 COL4A5 3

Collagen IV alpha 6 COL4A6 3

Collagen IX alpha 2 COL9A2, EDM2 3

Collagen IX alpha 3 COL9A3 3

Collagen receptor COLR 3

Collagen V alpha 1 COL5A1 3

Collagen V alpha 2 COL5A2 3

Collagen VI alpha 1 COL6A1 3

Collagen VI alpha 2 COL6A2 3

Collagen VI alpha 3 COL6A3 3

Collagen VII alpha 1 COL7A1 3 Collagen X alpha 1 COL10A1 3

Collagen X alpha 1 COLI 1 AI 3

Collagen XI alpha 2 COLL 1A2 3

Collagen XVII alpha l COL17A1 3

Coliagemc-like tall subumt of asymmetric COLQ 1 acetylcholinesterase

Colony-stimulating factor 1 CSF1 6

Colony-stimulating factor 1 receptor CSFIR 6

Colony-stimulating factor 2 CSF2 6

Colony-stimulating factor 2 alpha receptor CSF2RA 6

Colony-stimulating factor 2 beta receptor CSF2RB 6

Complex V MTATP6 1

Cone-rod homeobox-containing gene CRX 6

Contactin CNTN1 6

Corticotrophin-releasing hormone CRH 2

CorticotropMn-releasing hormone receptor CRHR1 2

Creb binding protein CREBBP 6

Cu2+ transporting ATPase beta polypeptide ATP7B 1

Cyclic AMP response element binding protein CREB 6

Cyclic AMP-dependent protein kinase PKA 1

Cyclic nucleotide gated Channel alpha 1, CNGAL 5

CNGA1

Cyclic nucleotide gated Channel alpha 3, CNGA3

CNGA3

Cyclic nucleotide phosphodiesterase 1B PDEIB

Cyclic nucleotide phosphodiesterase 1B1 PDELBI

Cyclic nucleotide phosphodiesterase 2A3 PDE2A3

Cyclic nucleotide phosphodiesterase 3A PDE3A

Cyclic nucleotide phosphodiesterase 3B PDE3B

Cyclic nucleotide phosphodiesterase 4A PDE4A

Cyclic nucleotide phosphodiesterase 4C PDE4C

Cyclic nucleotide phosphodiesterase 5 A PDE5A

Cyclic nucleotide phosphodiesterase 6A PDE6A

Cyclic nucleotide phosphodiesterase 6B PDE6B

Cyclic nucleotide phosphodiesterase 7 PDE7

Cyclic nucleotide phosphodiesterase 8 PDE8

Cyclic nucleotide phosphodiesterase 9A PDE9A

Cyclin-dependent kinase 2 CDK2

Cyclooxygenase 1 COX1

Cyclooxygenase 2 COX2

CYP11A1 CYPL1A1

CYP11BI CYP11B1

CYP11B2 CYP11B2

CYP17 CYP17

CYP19 CYP19

CYP1A1 CYP1A1

CYP1A2 CYP1A2 CYP1B1 CYP1B1

CYP21 CYP21

CYP24 CYP24

CYP27 CYP27

CYP27B1 PDDR

CYP2A1 CYP2N1

CYP2A33 CYP2N13

CYP2A3 CYP2N3

CYP2A6V2 CYP2N6V2

CYP2A7 CYP2N7

CYP2B6 CYP2B6

CYP2C18 CYP2C18

CYP2C19 CYP2C19

CYP2C8 CYP2C8

CYP2C9 CYP2C9

CYP2D6 CYP2D6

CYP2E1 CYP2E1

CYP2F1 CYP2F1

CYP2J2 CYP2J2

CYP3A3 CYP3N3

CYP3A4 CYP3N4

CYP3A5 CYP3N5

CYP3A7 CYP3N7

CYP4A11 CYP4N11

CYP4B1 CYP4B1

CYP4F2 CYP4F2

CYP4F3 CYP4F3

CYP51 CYP51

CYP5A1 CYP5N1

CYP7A CYP7N

CYP8 CYP8

Cystathionase CTH

Cystatiύone beta synthase CBS

Cystatin B CSTB 2

Cystatin C CST3 2

Cystinosin CTΝS 2

Cytidine deaminase CDN

Cytidine-5-prime-triphosphate synthetase CTPS

Cytochrome a

Cytochrome c

Cytochrome c oxidase, MTCO

Cytokine-suppressive antiinflammatory drug- CSBPl 4 binding protein 1

Cytokine-suppressive antiinflammatory drug- CSBP2 4 binding protein 2

DAX1 nuclear receptor DAX1 4

Deafhess autosomal dominant 5 DFΝA5 5 Deafness dystoma peptide DDP 5

Deleted in malignant brain tumours 1 DMBT1 6

Delta aminolevulinate dehydratase ALAD 1

Delta-7-dehydrocholesterol reductase DHCR7 1

DHEA sulfotransferase STD 1

Diaphanous 1 DIAPH1 5

Diaphanous 2 DIAPH2 5

Dihydrolipoamide branched chain DBT 5 transacylase

Dihydrolipoamide dehydrogenase DLD

Dihydrolipoyl dehydrogenase 2 PDHA

Dihydrolipoyl transacetylase PDHA

Dihydroxyacetonephosphate acyltransferase DHAPAT

DNA glycosylases

DNA helicases

DNA Ligase I LIG1

DNA methyltransferase DNMT

DOPA decarboxylase DDC

Dopamine beta hydroxylase DBH

Dopamine receptors Dl DRD1 5

Dopamine receptors D2 DRD2 5

Dopamine receptors D3 DRD3 5

Dopamine receptors D4 DRD4 5

Dopamine receptors D5 DRD5 5

Doublecortin, DCX DCX 3

Dynamin DNM1 6

Dystoma 1 DYT1 3

Dystoma 3 DYT3 3

Dystoma 6 DYT6 3

Dystoma 7 DYT7 3

Dystoma 9 CSE 3

DystropMa myotonica DM, DMPK 1

DystropMa myotonica, atypical DM2 1

Dystrophin DMD 3

Ectodermal Dysplasia 1 gene EDI 3

ElectiOn-transfering-flavoprotein alpha ETFA 2

Electron-transfering-flavoprotein beta ETFB 2

Electron-transferring flavoprotein ETFDH 1 dehydrogenase

Emerin EMD 2

Empty spiracies (drosopMla) homologue 1 EMX1 6

Empty spiracies (drosopMla) homologue 2 EMX2 6

Endobrevin VAMP8 5

Endothelin 1 EDN1 5

Endothelin 2 EDN2 5

Endothelin 3 EDN3 5

Endothelin converting enzyme ECE1 5 Endothelin receptor type A EDNRA 5

Endothelin receptor type B EDNRB 5

Enolase ENO1 1

Enoyl CoA isomerase 1

Enoyl CoA reductase 1

Enterokinase PRSS7, ENTK 1

Ephrin-A EFNA 6

Ephrin-B EFNB 6

Epidermal growth factor EGF 6

Epidermal growth factor receptor EGFR 6

Epilepsy, progressive myoclomc 2 gene EPM2A 1

EWS RNA-binding protein EWSR1 6

Excision repair complementation group 4 ERCC4 1 protein

Exostosin 1 EXTI 3

Exostosin 2 EXT2 3

Factor I (No. one) FI 4

Factor III F3 4

Factor IX F9 4

Factor V F5 4

Factor VII F7 4

Factor VIII F8 4

Factor X F10 4

Factor XI Fl l 4

Factor Xii F12 4

Factor XIII A & B F13A & F13B 4

Fancom anemia, complementation group A FANCA 2

Fancom anemia, complementation group C FANCC 2

Fancom anemia, complementation group D FANCD 2

Fibrillin 2 FBN2 6

Fihrinogen alpha FGA 3

Fibrinogen beta FGB 3

Fibrinogen gamma FGG 3

Fibroblast growth factor FGF1 6

Fibroblast growth factor receptor 1 FGFR1 6

Fibroblast growth factor receptor 2 FGFR2 6

Fibroblast growth factor receptor 3 FGFR3 6

Fibronectin precursor FN1 6

Flightless-11, DrosopMla homolog of FLII 6

Follicle stimulating hormone receptor FSHR,ODGl 6

Fol icle stimulating hormone, FSH FSHB 6

Forkhead transcription factor IO FKHL10 6

Formiminotransferase 1

Fragile site, folic acid type, rare, fra(X) A FRAXA 5

Fragile site, folic acid type, rare, fra(X) E FRAXE 5

Fragile site, folic acid type, rare, fra(X) F FRAXF 5

Frataxin FRDA 6 Fructose- 1 ,6-diphosphatase FBP1 1

Fukuyama type congemtal muscular FCMD 6 dystrophy

GABA receptor, alpha 1 GABRAL 5

GABA receptor, alpha 2 GABRA2 5

GABA receptor, alpha 3 GABRA3 5

GABA receptor, alpha 4 GABRA4 5

GABA receptor, alpha 5 GABRA5 5

GABA receptor, alpha 6 GABRA6 5

GABA receptor, beta 1 GABRB1 5

GABA receptor, beta 2 GABRB2 5

GABA receptor, beta 3 GABRB3 5

GABA receptor, gamma 1 GABRG1 5

GABA receptor, gamma 2 GABRG2 5

GABA receptor, gamma 3 GABRG3 5

GABA transaminase ABAT 1

Galactocerebrosidase GALC 1

Galactose 1 -phosphate uridyi-transferase GALT 1

Galactosyltransferase 1 GT1 6

Galactosyltransferase, alpha 1,3 GGTAL 6

Galactosyltransferase, beta 3 B3GALT 6

Galanin GAL 5

Galanin receptor GALNRL 5

Gamma-glutamyltransferase 1 GGTI 2

Gap junction protein beta 2 GJB2 2

Gap junction protein beta 3 GJB3 2

Gastric Intrinsic factor, GIF GIF 1

Gastrulation brain homeobox 2 GBX2 6

Gemospasm I GSM1 6

Gephyrin 5

Glial-cell derived neurotropMc factor (GDNF) 5 receptor

Glial-cell derived neurotropMc factor, GDNF GDNF 5

Glucosidase, acid alpha GAA 1

Glutamate decarboxylase, GAD GAD1 1

Glutamate dehydrogenase GLUD1 1

Glutamate receptor 1 GLURI 5

Glutamate receptor 2 GLUR2 5

Glutamate receptor 3 GLUR3 5

Glutamate receptor 4 GLUR4 5

Glutamate receptor 5 GLUR5 5

Glutamate receptor 6 GLUR6 5

Glutamate receptor 7 GLUR7 5

Glutamate receptor, ionotropic, NMDA 1 NMDAR1 5

Glutamate receptor, ionotropic, NMDA 2A NMDAR2A 5

Glutamate receptor, ionotropic, NMDA 2B NMDAR2B 5

Glutamate receptor, ionotropic, NMDA 2C NMDAR2C 5 Glutamate receptor, ionotropic, NMDA 2D NMDAR2D 5

Glutamate-cysteine ligase GLCLC 1

Glutaryl-CoA dehydrogenase GCDH 1

GlutatMone GSH 2

GlutatMone S-transferase, GSTZI GSTZI 1

GlutatMone synthetase GSS 1

Glyceraldehyde-3 -phosphate GAPDH 1 dehydrogenase, GAPDH

Glycerol kinase GK 1

Glycinamide ribonucleotide (GAR) GART 1 transformylase

Glycine dehydrogenase GLDC 1

Glycine receptor, alpha GLRA2 5

Glycine receptor, beta 5

Glycine transporter GLYT 5

Glycogen phosphorylase PYGL 1

GM2 ganglioside activator protein, GM2A GM2A 1

Gonadotropin releasing hormone receptor GNRHR 6

GTP cylcohydrolase 1 GCH1 6

Guamdinoacetate N-methyltransferase GAMT 1

Guamne nucleotide-binding protein, alpha GNA01 5 activating activity polypeptide, GNAO

Guamne nucleotide-binding protein, alpha GNAI1 5 inMbiting activity polypeptide 1, GNAI1

Guanine nucleotide-binding protein, alpha GNAI2 5 inMbiting activity polypeptide 2, GNAO

Guanine nucleotide-binding protein, alpha GNAI3 5 inMbiting activity polypeptide 3, GNAI3

Guamne nucleotide-binding protein, alpha GNAS1 5 stimulating activity polypeptide, GNAS1

Guamne nucleotide-binding protein, alpha GNAS2 5 stimulating activity polypeptide, GNAS2

Guanine nucleotide-binding protein, alpha GNAS3 5 stimulating activity polypeptide, GNAS3

Guamne nucleotide-binding protein, alpha GNAS4 5 stimulating activity polypeptide, GNAS4

Guamne nucleotide-binding protein, alpha GNAT1 5 transducing activity polypeptide, GNAT1

Guanine nucleotide-binding protein, alpha GNAT2 5 transducing activity polypeptide, GNAT2

Guamne nucleotide-binding protein, beta GNB3 5 polypeptide 3

Guanine nucleotide-binding protein, gamma GNG5 5 polypeptide 5

Guanine nucleotide-binding protein, q GNAQ 5 polypeptide Guanylate cyclase 2D, membrane (retina- GUCY2D 1 specific)

Guanylate cyclase activator 1 A (retina) GUCA1A 1

Guanylate kinase 1

Guanylyl cyclase 1

Gustducin, alpha (taste-specific G protein) GDCA 5

Haeme regulated inMbitor kinase 1

Haemoglobin alpha 1 HBA1 2

Haemoglobin alpha 2 HBA2 2

Haemoglobin beta HBB 2

Haemoglobin delta HBD 2

Haemoglobin gamma A HBG1 2

Haemoglobin gamma B HBG2 2

Haemoglobin gamma G HBGG 2

Heat shock protein, HSP60 4

Heat shock protein, HSP70 4

Heat shock protein, HSP90 4

Heat shock protein, HSPAL 4

Heat shock protein, HSPA2 4

Heparan sulfamidase 1

Heparin binding epidermal growth factor HBEGF 6

Heparin Cofactor II HCF2 4

Hepatic lipase LIPC 1

Hexosamimdase A HEXA,TSD 1

Hexosammidase B HEXB 1

Hippocampal cholinergic neurostimulating peptide, HCNP 5

Histamine receptors, Hl 5

Histamine receptors, H2 5

Histamine receptors, H3 5

Histidase 1

HLA-B associated transcript 1 BAT1 4

HLH transcription factor HAND1 HAND1 6

HLH transcription factor HAND2 HAND2 6

HMG-CoA lyase HMGCL 1

HMG-CoA reductase HMGCR 1

Holocarboxylase synthetase HLCS 1

Homeobox HB9 HLXB9 6

Human atonal gene ATOH1 6

Hypox_ tMne-guanine HPRT 1 phosphoribosyltransferase, HGPRT

Hypoxia inducible factor 1 HIFIA 1

Hypoxia inducible factor 2 1

IC7 A and B

Inositol 1,4,5-triphosphate receptor I ITPR1 6

Inositol monophosphatase IMPA1 5

Inositol polyphosphate 1 -phosphatase INPP1 5

Insulin INS 6 Insulin receptor INSR 6 Insulin-like growth factor 1 IGF1 6 Insulin-like growth factor 1 receptor IGF1R 6 Insulin-like growth factor 2 IGF2 6 Insulin-like growth factor 2 receptor IGF2R 6 Integrin beta 1 ITGB1 6 Integrin beta 2 ITGB2 6 Integrin beta 3 ITGB3 6 Integrin, alpha 1 ITGA1 6 Integrin, alpha M ITGAM 6 Inter-alpha-trypsin inMbitor, IATI 1 lnterleukin(IL) 1 receptor IL1 R 4 Interleukin(IL) 1, alpha IL1A 4 Interleukin(IL) 1, beta IL1B 4 Interleukin(IL) 10 IL10 4 Interleukin(IL) 10 receptor IL10R 4 Mterleukin(IL) ll IL11 4 Interleukin(IL) 11 receptor IL11R 4 Interleuk_n(IL) 12 IL12 4 Interleukin(IL) 12 receptor, beta 1 IL12RB1 4 Interleukin(IL) 13 IL13 4 Interleukin(IL) 13 receptor IL13R 4 Interleukin(IL) 2 IL2 4 Intern(IL) 2 receptor, alpha IL2RA 4 Interleukin(IL) 2 receptor, gamma IL2RG 4 Interleukin(IL) 3 IL3 4 Interleukin(IL) 3 receptor IL3R 4 Interleukin(IL) 4 IL4 4 Interleukin(IL) 4 receptor IL4R 4 Interleukin(IL) 5 IL5 4 Interleukin(IL) 5 receptor IL5R 4 Interleukin(IL) 6 IL6 4 Interleukin(IL) 6 receptor IL6R 4 Interleukin(IL) 7 IL7 4 Interleukin(IL) 7 receptor IL7R 4 Interleukin(IL) 8 IL8 4 lnterleukin(IL) 8 receptor IL8R 4 Interleukin(IL) 9 IL9 4 Interleukin(IL) 9 receptor IL9R 4 Interleukin(IL) receptor antagomst 1 IL1RN, IL1RA 4 IP3 kinase 1

Isovaleric acid CoA dehydrogenase IVD 1 Kallikrein 3 KAK3 4

Kallman syndrome gene 1 KALI 6 Ketohexokinase KHK 1

Kininogen, High molecular weight KNG 4 Kynureninease 1 Ll cell adhesion molecule L1CAM 5

Lamimn 5, alpha 3 LAMA3 6

Lamimn 5, beta 3 LAMB3 6

Laminin 5, gamma 2 LAMC2 6

Lamimn M LAMM 6

Lamimn receptor I LAMR1 6

Latent transforming growth factor-beta LTBP2 6 binding protein 2

Leptin LEP 6

Leptin receptor LEPR 6

Leukaemia inMbitory factor LIF 6

Leukaemia inMbitory factor receptor LIFR 6

Leukin 4

Leukocyte-specific transcript 1 LST-1 4

Leukotriene A4 hydrolase 4

Leukotriene A4 synthase LTA4S 1

Leukotriene B4 receptor 4

Leukotriene B4 synthase LTB4S 1

Leukotriene C4 receptor 4

Leukotriene C4 synthase LTC4S 1

Leukotriene D4/E4 receptor 4

LIM homeobox protein 1 LHX1 6

LIM homeobox protein 2 LHX2 6

LIM homeobox protein 3 LHX3 6

LIM homeobox protein 4 LHX4 6

Limbic associated membrane protein LAMP 6

LIM-domain only protein 1 LM01 6

LIM-domain oMy protein 2 LM02 6

LIM-domain oMy protein 3 LM03 6

LIM-domain oMy protein 4 LM04 6

LIM-Kinase I (LINK-I) 4

Lipoprotein receptor, Low Density LDLR 2

Lipoprotein, High Density HDLDT1 2

Lipoprotein, Intermediate Density 2

Lipoprotein, Low Density 1 2

Lipoprotein, Low Density 2 2

Lipoprotein, Very Low Density VLDLR 2

Low density lipoprotein receptor-related LRP 2 protein precursor

Lymphoid enhancer-binding factor LEF-1 6

MAD (mothers against decapentaplegic, MADH4 6

DrosopMla) homologue 4

Malonyl CoA decarboxylase 1

Mannosidase, alpha B lysosomal MANB 1

Mannosidase, beta A lysosomal MANBA 1

Marenostrin MEFV 2

Melatomn receptor 1A MTNRLA 5 Melatonin receptor 1 B MTNRLB 5

Methylguanine-DNA methyltiansferase MGMT 1

Methylmalonyl-CoA mutase MUT 1

Mevalonate kinase MVK 1

Microsomal triglyceri.de transfer protein MTP 2

Microtuble associated protein MAP 3

Mismatch repair gene, PMSL2 PMS2 6

Molybdenum cofactor synthesis 1 MOCS1 1

Molybdenum cofactor synthesis 2 MOCS2 1

Monoamine oxidase A MAOA 1

Monoamine oxidase B MAOB 1

Msh homeobox homolog 2 MSX2 6

Mucolipidoses GNPTA 1

Muscarimc receptor, Ml CHRM1 5

Muscarimc receptor, M2 CHRM2 5

Muscarinic receptor, M3 CHRM3 5

Muscarimc receptor, M4 CHRM4 5

Muscarimc receptor, M5 CHRM5 5

Myelin protein peripheral 22 PMP22 3

Myelin protein zero MPZ 3

Myogemc factor 3 MYF3 6

Myogenic factor 4 MYF4 6

Myogenic factor 5 MYF5 6

Myosin 6 MY06 3

Myosin 7A MY07A 3

Myotubularin MTMI 3

Na+, K+ ATPase, alpha ATP 1 AI 6

Na+, K+ ATPase, beta 1 ATP1B1 6

Na+, K+ ATPase, beta 2 ATP1B2 6

Na+, K+ ATPase, beta 3 ATP1B3 6

N-acetylglucosamine-6-sulfatase GNS 1

N-acetylglucosamimdase, alpha NAGLU 1

NADH dehydrogenase 1 reductase

NB6 4

Nebulin NEB 3

Necdin NDN 6

Nerve growth factor NGF 6

Nerve growth factor receptor NGFR 6

Neural retina-specific gene NRL 6

Neuramimdase sialidase NEU 2

Neuregulin HGL 6

Neurite growth-promoting factor 2 MDK 5

Neurite inMbitory protein 5

Neuroendocrine convertase 1 NEC1, PCSKI 1

Neurofibromin I NF1 6

Neurofibromin 2 NF2 6 Neurofilament protein, heavy NFH 3

Neurofilameht protein, NF68 NF68 3

Neurokinin A NKNA 5

Neurokimn B NKNB 5

Neuronal apoptosis inMbitory protein NAH^» 4

Neuronal molecule- 1 4

Neuronal molecule- 1 receptor 4

Neuropeptide Y NPY 5

Neuropeptide Y receptor Yl NPY1R 5

Neuropeptide Y receptor Y2 NPY2R 5

Neurotensin NTS 5

Neurotensin receptor NTSR1 5

Neutral endopeptidase 1

Niemann-Pick disease protein NPC1 2

Nitric oxide synthase 1, NOSl NOSl 1

Nitric oxide synthase 2, NOS2 NOS2 1

Nitric oxide synthase 3, NOS3 NOS3 1

Notch 1 NOTCH1 6

Notch 2 NOTCH2 6

Notch 3 NOTCH3 6

Notch ligand - jagged 1 JAG 1, AGS 6

Nuclear factor I-kappa-B-like gene IKBL 4

Nucleoside diphosphate kinase-A NDPKA 1

Oncogene bcl2 6

Oncogene GLI I GLI 6

Oncogene GLI2 GLI2 6

Oncogene GLI3 GLI3 6

Oncogene sis PDGFB 6

Opioid receptor, delta OPRD1 5

Opioid receptor, kappa OPRK1 5

Opioid receptor, mu OPRM1 5

OmitMne delta-aminotransferase OAT 1

Ormtiiine transcarbamoylase OTC, NME1 1

Orthodenticle (DrosopMla) homolog I OTX1 6

Orthodenticle (DrosopMla) homolog 2 OTX2 6

Otoferlin OTOF 5

Paired box homeotic gene 2 PAX2 6

Paired box homeotic gene 3 PAX3 6

Palmitoyi-protein tMoesterase PPT 2

Parkin PARK2 5

Patched (DrosopMla) homolog, PTCH PTCH 6

Peanut-like 1 PNUTLL 4

PeptidylglyCihe alpha-amidating PAM 1 monooxygenase

Peripherin, PRPH 3

Peroxisomal membrane protein 1 PXMP1 3

Peroxisomal membrane protein 3 PXMP3 2 Peroxisome biogenesis factor 1 PEX1 2 Peroxisome biogenesis factor 19 PEX19 2 Peroxisome biogenesis factor 6 PEX6 2 Peroxisome biogenesis factor 7 PEX7 2 Peroxisome receptor 1 PXR1 2 Persyn 3

Phosphate regulating gene with homologies PHEX 6 to endopeptidases on the X chromosome Phosphatidylinositol transfer protein PITPN 6 Phosphoglucose isomerase GPI 1 Phosphoglycerate kinase I PGKL 1 Phospholipase A2, group 10 PLA2G 1 0 4 Phospholipase A2, group 1B PLA2G1B 4 Phospholipase A2, group 2A PLA2G2A 4 Phospholipase A2, group 2B PLA2G2B 4 Phospholipase A2, group 4A PLA2G4A 4 Phospholipase A2, group 4C PLA2G4C 4 Phospholipase A2, group 5 PLA2G5 4 Phospholipase A2, group 6 PLA2G6 4 Phospholipase C alpha 4 Phospholipase C beta 4 Phospholipase C delta PLCD1 4 Phospholipase C epsilon 4 Phospholipase C gamma PLCG1 4 Phosphomannomutase 2 PMM2 6 Phosphoribogyl pyrophosphate synthetase PRPS1 1 Phytanoyi-CoA hydroxylase PHYH 6 PlakopMlin 1 PKP1 2 Plasminogen PLG 1

Plasminogen activator inMbitor 1 PAH 1 Plasminogen activator inMbitor 2 PAI2 1 Plasminogen activator receptor, Urokinase UPAR, PLAUR 3 Plasminogen activator, Tissue PLAT, TPA 1 Plasminogen activator, Urokinase UPA, PLAU 1 Platelet derived growth factor PDGF 6 Platelet derived growth factor receptor PDGFR 6 Platelet-activating factor receptor PAFR 4 Plectin 1 PLEC1 2

Postsynaptic density-95 protein PSD95 5 Potassium Channel, calcium-activated KCNN4 5 Potassium Channel, subfamily K, member 1 KCNK1 5 Potassium Channel, subfamily K, member 2 KCNK2 5 Potassium Channel, subfamily K, member 3 KCNK3 5 Potassium inwardly-rectifying Channel J 1 KCNJ1 5 Potassium voltage-gated Channel AI KCNA1 5 Potassium voltage-gated Channel El KCNE1 5 Potassium voltage-gated Channel Ql KCNQl 5 Potassium voltage-gated Channel Q2 KCNQ2 5

Potassium voltage-gated Channel Q3 KCNQ3 5

Potassium voltage-gated Channel Q4 KCNQ4 5

POU domain, class 1, transcription factor 1 POUIFI 6

(Pitl)

POU domain, class 3, transcription factor 4 POU3F4 6

POU domain, class 4, transcription factor 3 POU4F3 6

Prekallikrein 4

Preproenkephalin PENK 5

Presemtin PSEN1 2

Presemlin 2 PSEN2 2

Prion protein PRNP 5

Procollagen N-protease 1

Proline dehydrogenase PRODH 1

Pro-melanin-concentrating hormone PMCH 6

Proopiomelanocortin POMC 5

Prosaposin PSAP 5

Prostacyclin synthase 4

Prostaglandin 15 -OH dehydrogenase HGPD, PGDH 4

Prostaglandin D - DP receptor 4

Prostaglandin El receptor 4

Prostaglandin E2 receptor 4

Prostaglandin E3 receptor 4

Prostaglandin F - FP receptor 4

Prostaglandin 12 receptor 2

Prostaglandin IP receptor 4

Protease nexin 2 PN2 1

Protective protein for beta-galactosidase PPGB 1

Protein C PROC 4

Protein C inMbitor PCI 4

Protein kinase C, alpha PRKCA 1

Protein kinase C, gamma PRKCG 1

Protein kinase G 1

Protein phosphatase 1, regulatory (inMbitor) PPP1R3 1 subunit 3

Protein S PROS1

Prothrombin precursor F2

Purine nucleoside phosphorylase NP 1

Pyrroline-5-carboxylate synthetase PYCS 1

Pyruvate carboxylase PC 1

Pyruvate decarboxylase PDHA 1

Ras-G-protein RAS 6

Rathke pouch homeobox, RPX RPX 6

Renin REN 1

Replication factor C RFC2 1

Retinal pigment epithelium specific protein RPP65 3

(65kD) Retinaldehyde binding protein 1 RLBP1 2

Retinoblastoma 1 RB1 6

Rhodopsin kinase RHOK 1

RIGUI RIGUI 6

S100 calcium-binding protein A3 S I00A3 5

S100 calcium-binding protein A4 S 100 A4 5

S100 calcium-binding protein A5 S100A5 5

S100 calcium-binding protein A7 S100A7 5

S100 calcium-binding protein A8 S100A8 5

S100 calcium-binding protein A9 S100A9 5

S100 calcium-binding protein P S100P 5

Secretase, alpha 5

Secretase, beta 5

Secretase, gamma 5

Selectin E SELE 5

Selectin L SELL 5

Selectin P SELP 5

Semaphorin A4 SEMA4 3

Semaphorin A5 SEMA5 3

Semaphorin D 3

Semaphorin E SEMAE 3

Semaphorin F SEMA3/F 3

Semaphorin W SEMAW 3

Serotonin N-acetyltransferase SNAT 1

Serotomn receptor, 5HT1A HTRIA 5

Serotomn receptor, 5HT1B HTRIB 5

Serotomn receptor, 5HT1C HTRLC 5

Serotomn receptor, 5HT1D HTRL D 5

Serotonin receptor, 5HT1E HTRI E 5

Serotomn receptor, 5HT1F HTRL F 5

Serotomn receptor, 5HT2A HTR2A 5

Serotonin receptor, 5HT2B HTR2B 5

Serotomn receptor, 5HT2C HTR2C 5

Serotomn receptor, 5HT3 HTR3 5

Serotonin receptor, 5HT4 HTR4 5

Serotonin receptor, 5HT5 HTR5 5

Serotonin receptor, 5HT6 HTR6 5

Serotomn receptor, 5HT7 HTR7 5

Signaling lymphocyte activation molecule SLAM 4

Slug protein 6

Small nuclear ribonucleoprotein polypeptide SNRPN 3

N

Sodium Channel, non-voltage gated 1, alpha SCNN1A 5

Sodium Channel, non-voltage gated 1, beta SCNN1B 5

Sodium Channel, non-voltage gated 1, SCNN1G 5 gamma Sodium Channel, voltage gated, type IV, SCN4A 5 alpha polypeptide

Sodium Channel, voltage-gated, type 1, beta SCNLB 5 polypeptide

Solute carrier family 1 (amino acid SLC1A6 2 transporter), member 6

Solute carrier family 1 (glial Mgh affimty SLC1A3 2 glutamate transporter), member 3

Solute carrier family 1 (glutamate SLC1A1 2 transporter), member 1

Solute carrier family 1 (glutamate SLC1A2 2 transporter), member 2

Solute carrier family 12, member 1 SLC12A1 2

Solute carrier family 12, member 2 SLC12A2 2

Solute carrier family 12, member 3 SLC12A3 2

Solute carrier family 16 (monocarboxylate SLC16A1 2 transporter), member 1

Solute carrier family 16 (monocarboxylate SLC16A7 2 transporter), member 7

Solute carrier family 18, member 3 SLC18A3 2

Solute carrier family 2 (facilitated glucose SLC2A1 2 transporter), member I

Solute carrier family 20, member 3 SLC20A3 2

Solute carrier family 25, member 12 SLC25A12 2

Solute carrier family 4 (amon exchangers, SLC4A1 2 member 1

Solute carrier family 4 (amon exchanger), SLC4A2 2 member 2

Solute carrier family 4 (amon exchanger), SLC4A3 2 member 3

Solute carrier family 5 (sodium/glucose SLC5A1 2 transporter), member I

Solute carrier family 5 (sodium/glucose SLC5A2 2 transporter), member 2

Solute carrier family 5 (sodium/glucose SLC5A5 2 transporter), member 5

Solute carrier family 5, member 3 SLC5A3 2

Solute carrier family 6 (GAMMA- SLC6A1 2

AMINOBUTYRIC ACID transporter), member

1

Solute carrier family 6 (neurotransmitter SLC6A3 2 transporter, dopamine), member 3

Solute carrier family 6 (neurotransmitter SLC6A2 2 transporter, noradrenaline), member 2

Solute carrier family 6 (neurotransmitter SLC6A4 2 transporter, serotonin), member 4

Solute carrier family 6, member 6 SLC6A6 2 Solute carrier family 7(amino acid SLC7A1 2 transporter), member 1

Solute carrier family 7(amino acid SLC7A2 2 transporter), member 2

Solute carrier family 7(amino acid SLC7A7 2 transporter), member 7

Somatostatin SST 5

Somatostatin receptor, SSTR1 SSTR1 5

Somatostatin receptor, SSTR2 SSTR2 6

Somatostatin receptor, SSTR3 SSTR3 5

Somatostatin receptor, SSTR4 SSTR4 5

Somatostatin receptor, SSTR5 SSTR5 5

Spastic paraplegia 7 SPG7 6

Spectrin beta SPTB 3

SpMngomyelinase SMPD1 1

Spinocerebellar ataxia 8 gene SCA8 5

SRY-bo l l SOX11 6

Steroid 5 alpha reductase 1 SRD5AI 1

Steroid 5 alpha reductase 2 SRD5A2 1

Steroid sulphatase STS 1

Substance P 5

Succimc semi-aldehyde dehydrogenase SSADH 1

Sulfamidase SGSH 6

Sulfite oxidase SUOX 1

Superoxide dismutase 1 SOD1 1

Superoxide dismutase 3 SOD3 1

Surfeit 1 SURF1 6

Survival of motor neuron 1, telomeric SMN1 2

Synapsin la & lb SYN1 5

Synapsin 2a & 2b SYN2 5

Synaptic vesicle amine transporter SVAT 5

Synaptic vesicle protein 2 SV2 5

Synaptobrevin 1 SYB1 5

Synaptobrevin 2 SYB2 5

Synaptogyrin 5

Synaptophysin SYP 5

Synaptosomal-associated protein, 25KD SNAP25 5

Synaptotagmin 1 SYT1 5

Synaptotagmin 2 SYT2 5

Syntaxin 1 STX1 5

Tachykinin receptor, NK1R TACR1 5

Tachykinin receptor, NK2R TACR2 5

Tachykinin receptor, NK3R TACR3 5

Talin TLN 6

Tau protein MAPT 3

TEK, tyrosine kinase, endothelial TEK 1

Telomerase protein component 1 TMolase, perioxisomal 1

Thrombin receptor F2R 4

Thrombopoietin THPO 6

Thromboxane A synthase 1 TBXAS1 4

Thromboxane A2 TXA2 4

Thromboxane A2 receptor TBXA2R 4

Thy-1 T-cell antigen THY1 4

Thyroxin-binding globulin TBG 2

Tocopherol (alpha) transfer protein TTPA 2

Topoisomerase I 1

Tofticollis, keloids, cryptorcMdism and renal TKCR 6 dysplasia gene

Transacylase 1

Transferrin receptor TFRC 6

Transforming growth factor, beta 2 TGFB2 6

Transforming growth factor, beta induced TGFB1 6

Transforming growth factor, beta receptor 2 TGFBR2 6

Transketolase-like 1 TKTL1 1

Transthyretin TTR 2

Tremor, essential 1 ETM1 5

Tremor, essential 2 ETM2 5

Triosephosphate isomerase TPI1 1

Tropomyosin 3 (non-muscle) TPM3 3

Tryptophan hydroxylase TPH 1

Tubby-like protein 1 TULP1 6

Tuberous sclerosis 1 TSC1 6

Tuberous sclerosis 2 TSC2 6

Tumour necrosis factor (TNF) receptor TRAF1 4 associated factor 1

Tumour necrosis factor (TNF) receptor TRAF2 4 associated factor 2

Tumour necrosis factor (TNF) receptor TRAF3 4 associated factor 3

Tumour necrosis factor (TNF) receptor TRAF4 4 associated factor 4

Tumour necrosis factor (TNF) receptor TRAF5 4 associated factor 5

Tumour necrosis factor (TNF) receptor TRAF6 4 associated factor 6

Tumour necrosis factor alpha TNFA 4

Tumour necrosis factor alpha receptor TNFAR 4

Tumour necrosis factor beta TNFB 4

Tumour necrosis factor beta receptor TNFBR 4

Tumour protein p53 TP53,P53 6

Tumour protein p73 TP73 6

Tyrosine aminotransferase TAT 1

Tyrosine hydroxylase TH 1 Ubiquitin 6

Ubiquitin B UBB 6

Ubiquitin C UBC 6

Ubiquitin carboxyl-terminal esterase Ll UCHL1 6

UDP-glucuronosyltransferase 1 ugtld, UGTL 1

UDP-glucuronosyltransferase 2 UGT2 1

Urate oxidase UOX 1

Uridinediphosphate(UDP)-galactose-4- GALE 1 epimerase

Uroporphyrinogen III synthase UROS 1

Usher syndrome 2A USH2A 3

Vacuolar proton pump, subumt 1 VPP1 5

Vacuolar proton pump, subumt 3 VPP3 5

Vasoactive intestinal polypeptide VIP 5

Vasoactive intestinal polypeptide receptor VIPR 5

Vesicular monoamine transporter 1 VMAT1 5

Vesicular monoamine transporter 2 VMAT2 5

Vitamin B12-binding (R) protein 6

Von Hippel-Lindau gene VHL 6

Wolf-Hirschhorn syndrome candidate I gene WHSC1 6

Wolfram syndrome 1 gene WFS1 3

XantMne dehydrogenase XDH 1

Xeroderma pigmentosum, complementation XPA 1 group A

Zinc finger protein 2 ZIC2

Legende für die Spalte Proteinfunktion:

1 Enzym 2 Transport und Lagerung

3 Struktur 4 Immumtät

5 Nervale Transmission 6 Wachstum und Differenzierung

Tabelle 4 aggressive Symptome oder Verhaltensstörungen

Liste der Gene HUGO Protein¬

Gensymbol funktion

11 beta Hydroxysteroid dehydrogenase 2 HSD11B2 1

4-Hydroxyphenylpyruvate dioxygenase HPD 1

Acetylcholine receptor, nicotimc, alpha AI CHRΝA1 5

Acetylcholine receptor, nicotimc, alpha A2 CHRΝA2 5

Acetylcholine receptor, nicotimc, alpha A3 CHRNA3 5

Acetylcholine receptor, nicotimc, alpha A4 CHRNA4 5

Acetylcholine receptor, mcotimc, alpha A5 CHRNA5 5

Acetylcholine receptor, nicotimc, alpha A6 CHRNA6 5

Acetylcholine receptor, nicotimc, alpha A7 CHRNA7 5

Acetylcholine receptor, nicotimc, beta 1 CHRNB1 5

Ncety choline receptor, nicotinic, beta 2 CHRNB2 5

Acetylcholine receptor, nicotimc, beta 3 CHRNB3 5

Acetylcholine receptor, nicotinic, beta 4 CHRNB4 5

Acetylcholine receptor, nicotimc, epsilon CHRNE 5

Acetylcholine receptor, nicotimc, gamma CHRNG 5

Acetylcholinesterase ACHE

Adenylate cyclase 1 ADCY1

Adeny ate cyclase 2 ADCY2

Adenylate cyclase 3 ADCY3

Adenylate cyclase 4 ADCY4

Adenylate cyclase 5 ADCY5

Adenylate cyclase 6 ADCY6

Adenylate cyclase 7 ADCY7

Adenylate cyclase 8 ADCY8

Adenylate cyclase 9 ADCY9 alpha-Synuclein SNCA 5

Amyloid beta A4 precursor protein APP 5

Amyloid beta A4 precursor-like protein APLP 5

Androgen binding protein ABP 2

Androgen receptor AR 6

Apolipoprotein E APOE 2

Arginosuccinate synthetase ASS 1

Ataxia telangiectasia gene, AT ATM 6 beta-synuclein SNCB 5

Ca(2+) transporting ATPase, slow twitch ATP2A2 2

Cannabinoid receptor CNR1 5

Carbomc anhydrase 3 CA3

Carbomc anhydrase 4 CA4

Carbonic anhydrase, alpha CA1

Carbomc anhydrase, beta CA2

Catechol-o-methyltransferase COMT Cholecystokinin CCK 5

Cholecystokinin B receptor CCKBR 5

Choline acetyltransferase CHAT 1

Ciliary neurotropMc factor (CNTF) CNTF 6

Ciliary neurotropMc factor (CNTF) receptor CNTFR 6

CorticotropMn-releasing hormone CRH 2

Corticotiophin-releasing hormone receptor CRHR1 2

Cryptochrome 1 CRY1 3

Cryptochrome 2 CRY2 3

Cu2+ transporting ATPase beta polypeptide ATP7B

Cyclic AMP-dependent protein kinase PKA

Cyclooxygenase 1 COX1

Cyclooxygenase 2 COX2

CYP11A1 CYP11A1

CYP11B1 CYP11B1

CYP11B2 CYP11B2

CYP17 CYP17

CYP19 CYP19

CYP1A1 CYP1A1

CYPIA2 CYPIA2

CYP1B1 CYP1B1

CYP21 CYP21

CYP24 CYP24

CYP27 CYP27

CYP27B1 PDDR

CYP2A1 CYP2A1

CYP2A13 CYP2A13

CYP2A3 CYP2A3

CYP2A6V2 CYP2A6V2

CYP2A7 CYP2A7

CYP2B6 CYP2B6

CYP2C18 CYP2C18

CYP2C19 CYP2C19

CYP2C8 CYP2C8

CYP2C9 CYP2C9

CYP2D6 CYP2D6

CYP2E1 CYP2E1

CYP2F1 CYP2F1

CYP2J2 CYP2J2

CYP3A3 CYP3A3

CYP3A4 CYP3A4

CYP3A5 CYP3A5

CYP3A7 CYP3A7

CYP4A11 CYP4A11

CYP4B1 CYP4B1

CYP4F2 CYP4F2

CYP4F3 CYP4F3 CYP51 CYP51

CYP5A1 CYP5A1

CYP7A CYP7A

CYP8 CYPB

Cystathionase CTH

CystatMone beta synthase CBS

Cytidine deaminase CDA

Cytidine-5-prime-triphosphate synthetase CTPS

CytocMome a

Cytochrome c

Cytochrome c oxidase, MTCO

Dihydrolipoamide branched chain transacylase DBT 5

Dopamine beta hydroxylase DBH 1

Dopamine receptors Dl DRD1 5

Dopamine receptors D2 DRD2 5

Dopamine receptors D3 DRD3 5

Dopamine receptors D4 DRD4 5

Dopamine receptors D5 DRD5 5

Doublecortin, DCX DCX 3

Enolase EN01 1

Flightless-II, DrosopMla homolog of FLII 6

Fragile site, folic acid type, rare, fra(X) A FRAXA 5

Fragile site, folic acid type, rare, fra(X) E FRAXE 5

Fragile site, folic acid type, rare, fra(X) F FRAXF 5

GABA receptor, alpha 1 GABRA1 5

GABA receptor, alpha 2 GABRA2 5

GABA receptor, alpha 3 GABRA3 5

GABA receptor, alpha 4 GABRA4 5

GABA receptor, alpha 5 GABRA5 5

GABA receptor, alpha 6 GABRA6 5

GABA receptor, beta 1 GABRB1 5

GABA receptor, beta 2 GABRB2 5

GABA receptor, beta 3 GABRB3 5

GABA receptor, gamma 1 GABRG1 5

GABA receptor, gamma 2 GABRG2 5

GABA receptor, gamma 3 GABRG3 5

Galactose 1 -phosphate uridyl-transferase GALT 1

Geniospasm 1 GSM1 6

GlutatMone GSH 2

GlutatMone S-transferase, GSTZI GSTZI 1

Glyceraidehyde-3 -phosphate dehydrogenase, GAPDH 1

GAPDH

Glycerol kinase GK 1

Glycinamide ribonucleotide (GAR) GART 1 transformylase

GM2 ganglioside activator protein, GM2A GM2A 1

Gustducin, alpha (taste-specific G protein) GDCA 5 Inositol monophosphatase IMPA1 5

IP3 kinase 1

Mannosidase, beta A lysosomal MAN1A 1

Melatonin receptor 1 A MTNR1A 5

Melatomn receptor 1 B MTNR1B 5

Monoamine oxidase A MAOA 1

Monoamine oxidase B MAOB 1

Muscarimc receptor, Ml CHRM1 5

Muscarimc receptor, M2 CHRM2 5

Muscarimc receptor, M3 CHRM3 5

Muscarimc receptor, M4 CHRM4 5

Muscarimc receptor, M5 CHRM5 5

N-acetylglucosamine-6-sulfatase GNS 1 reductase

Neurokimn A NKNA 5

Neurokimn B NKNB 5

Neuropeptide Y NPY 5

Neuropeptide Y receptor Yl NPY1R 5

Neuropeptide Y receptor Y2 NPY2R 5

Neurotensin NTS 5

Neurotensin receptor NTSR1 5

Nitric oxide synthase 1, NOSl NOSl 1

Nitric oxide synthase 2, NOS2 NOS2 1

Nitric oxide synthase 3, NOS3 NOS3 1

Ocular albimsm 1 OA1 3

Opioid receptor, delta OPRD1 5

Opioid receptor, kappa OPRK1 5

Opioid receptor, mu OPRM1 5

Orexin OX 6

Orexin 1 receptor OX1R 6

Orexin 2 receptor OX2R 6

Phosphoglycerate kinase 1 PGK1 1

Potassium inwardly-rectifying Channel Jl KCNJ1 5

Potassium voltage-gated Channel El KCNE1 5

Potassium voltage-gated Channel Ql KCNQl 5

Preproenkephalin PENK 5

Preproglucagon GCG,GLP1,GLP2 6

Prion protein PRNP 5

Proline dehydrogenase PRODH 1

Pro-melanin-concentrating hormone PMCH 6

Proopiomelanocortin POMC 5

Purine nucleoside phosphorylase NP 1

RIGUI RIGUI 6

Serotonin N-acetyltransferase SNAT

Serotomn receptor, 5HT1A HTR1A 5

Serotonin receptor, 5HT1B HTR1B 5

Serotomn receptor, 5HT1C HTR1C 5 Serotonin receptor, 5HT1D HTR1D 5

Serotonin receptor, 5HT1E HTR1E 5

Serotomn receptor, 5HT1F HTR1F 5

Serotonin receptor, 5HT2A HTR2A 5

Serotonin receptor, 5HT2B HTR2B 5

Serotonin receptor, 5HT2C HTR2C 5

Serotonin receptor, 5HT3 HTR3 5

Serotonin receptor, 5HT4 HTR4 5

Serotonin receptor, 5HT5 HTR5 5

Serotomn receptor, 5HT6 HTR6 5

Serotonin receptor, 5HT7 HTR7 5

Solute carrier family 18, member 3 SLCl 8 A3 2

Solute carrier family 6 (GAMMA- SLC6A1 2

AMINOBUTYRIC ACID transporter), member 1

Solute carrier family 6 (neurotiansmitter SLC6A3 2 transporter, dopamine), member 3

Solute carrier family 6 (neurotransmitter SLC6A2 2 transporter, noradrenaline), member 2

Solute carrier family 6 (neurotransmitter SLC6A4 2 transporter, serotomn), member 4

Synapsin la & 1 b SYN1 5

Synapsin 2a & 2b SYN2 5

Synaptogydn 5

Synaptophysin SYP 5

Synaptosomal-associated protein, 25KD SNAP25 5

Syntaxin 1 STxl 5

Tachykimn receptor, NKIR TACR1 5

Tachykinin receptor, NK2R TACR2 5

Tachykimn receptor, NK3R TACR3 5

Tau protein MAPT 3

Tryptophan hydroxylase TPH 1

Tyrosine hydroxyiase TH 1

Ubiquitin 6

Ubiquitin B UBB 6

Ubiquitin C UBC 6

UDP-glucuronosyltransferase 1 ugtld, UGT1 1

UDP-glucuronosyltransferase 2 UGT2 1

Vacuolar proton pump, subumt 1 VPPI 5

Vacuolar proton pump, subumt 3 VPP3 5

Vasoactive intestinal polypeptide VIP 5

Vasoactive intestinal polypeptide receptor VIPR 5,

Legende für die Spalte Proteiι___unktion:

1 Enzym 2 Transport und Lagerung

3 Struktur 4 Immumtät

5 Nervale Transmission 6 Wachstum und Differenzierung Tabelle 5 Gehirnverletzungen

Liste der Gene HUGO Protein¬

Gensymbol funktion

2,3-bisphosphoglycerate mutase BPGM 1

3 -beta hydroxysteroid dehydrogenase 2 HSD3B2 1

4-hydroxyphenylpyruvate dioxygenase HPD 1

5, 10-methylenetetrahydrofolate reductase MTHFR 1

(NADPH)

6-pyruvoyltetiahydropterin synthase PTS 1

Acetoacetyl 2-CoA-tMolase ACAT2 1

Acetyl CoA acyltransferase ACAA 1

Acetylcholine receptor, mcotimc, alpha AI CHRNAL 5

Acetylcholine receptor, nicotimc, alpha A2 CHRNA2 5

Acetylcholine receptor, nicotimc, alpha A3 CHRNA3 5

Acetylcholme receptor, nicotimc, alpha A4 CHRNA4 5

Acetylcholine receptor, nicotimc, alpha A5 CHRNA5 5

Acetylcholine receptor, nicotimc, alpha A6 CHRNA6 5

Acetylcholine receptor, nicotimc, alpha A7 CHRNA7 5

Acetylcholine receptor, nicotimc, beta 1 CHRNBL 5

Acetylcholine receptor, nicotimc, beta 2 CHRNB2 5

Acetylcholine receptor, nicotinic, beta 3 CHRNB3 5

Acetylcholine receptor, nicotimc, beta 4 CHRNB4 5

Acetylcholine receptor, nicotinic, epsilon CHRNE 5

Acetylcholme receptor, nicotimc, gamma CHRNG 5

Acetylcholinesterase ACHE 1

Adducin, alpha ADDI 3

Adducin, beta ADD2 3

Adenosine receptor AI ADORAL 5

Adenosine receptor A2A ADORA2A 5

Adenosine receptor A2B ADORA2B 5

Adenosine receptor A3 ADORA3 5

Adenylate cyclase 1 ADCY1

Adenylate cyclase 2 ADCY2

Adenylate cyclase 3 ADCY3

Adenylate cyclase 4 ADCY4

Adenylate cyclase 5 ADCY5

Adenylate cyclase 6 ADCY6

Adenylate cyclase 7 ADCY7

Adenylate cyclase 8 ADCY8

Adenylate cyclase 9 ADCY9

Adrenergic receptor, alphal ADRAL 5

Adrenergic receptor, alpha2 ADRA2 5

Adrenergic receptor, betal ADRBI 5

Adrenergic receptor, beta2 ADRB2 5 Adrenergic receptor, beta3 ADRB3 5

AdrenocorticotropMc hormone (ACTH) ACTHR 6 receptor

Albumin, ALB ALB 2

Aldehyde dehydrogenase 10 ALDH10 1

Aldosterone receptor MLR 6

Alpha 1 acid glycoprotein AAG;AGP 2

Alpha 2 macroglobulin A2M 4 alpha thalassemia gene ATRX 5 alpha 1-antitrypsin PI 1 alpha 2-antiplasmin PLI 1 alpha-synuclein SNCA 5

Aminomethyltransferase AMT 1

Aminopeptidase P XPNPEP2 1

Amyloid beta (A4) precursor protein-binding, APBB1 5

APBB1

Amyloid beta A4 precursor protein APP 5

Amyloid beta A4 precursor-like protein APLP 5

Angiopoietin 1 ANGPT1 6

Angiopoietin 2 ANGPT2 6

Angiotensin converting enzyme ACE, DCPI 1

Angiotensin receptor 1 AGTRL 2

Angiotensin receptor 2 AGTR2 2

Angiotensinogen AGT 1

Annexin 1 ANX 1 1

Antidiuretic hormone receptor ADHR 2

Antithrombin III AT3 1

Apolipoprotein A I APOAL 2

Apolipoprotein A II APOA2 2

Apolipoprotein B APOB 2

Apolipoprotein Cl APOCI 2

Apolipoprotein C2 APOC2 2

Apolipoprotein C3 APOC3 2

Apolipoprotein D APOD 2

Apolipoprotein E APOE 2

Apolipoprotein H APOH 2

Apoptosis antigen 1 APTI 4

Arginase ARG1 1

Argimne vasopressin AVP 5

Arginine vasopressin receptor 1 A AVPR1A 5

Arginine vasopressin receptor 1 B AVPR1B 5

Argimne vasopressin receptor 2 AVPR2 5

Arginosuccinate lyase ASL

Arginosuccinate synthetase ASS

Arylsulfatase A ARSA

Arylsulfatase D ARSD

Arylsulfatase E ARSE Arylsulfatase F ARSF 1

Aspartoacylase ASPA 1

Ataxia telangiectasia gene, AT ATM 6

Atriai natriuretic peptide ANP 6

Atriai natriuretic peptide receptor A NPRI 6

Atdal natriuretic peptide receptor B NPR2 6

Atriai natriuretic peptide receptor C NPR3 6

Bagpipe homeobox, drosopMla homolog of, 1 BAPXL 6 beta-synuclein SNCB 5

Bleomycin hydrolase BLMH 1

Bradykimn receptor Bl 1

Bradykimn receptor B2 1

Brain derived neurotropMc factor BDNF 6

Brain derived neurotiopMc factor (BDNF) BDNFR 6 receptor

Butyrylcholinesterase BCHE 1

Ca(2+) transporting ATPase, slow twitch ATP2A2 2

Cadherin E CDHI 6

Cadherin EP 6

Cadherin N CDH2 6

Cadherin P CDH3 6

Calbindin CALB1 6

Calbindin D9K CALB3 6

Calcineurin AI CALNAL 1

Calcineurin A2 CALNA2 1

Calcineurin A3 CALNA3 1

Calcineurin B

Calcitonin/Calcitomn gene-related peptide CALCA 5 alpha

Calcium Channel, voltage-dependent, alpha CACNA1F 5

1F subumt

Calcium Channel, voltage-dependent, Alpha- CACNA1B 5

1B (CACNL1A5)

Calcium Channel, voltage-dependent, Alpha- IC CACNA1C 5

Calcium Channel, voltage-dependent, Alpha- ID CACNA1D 5

Calcium Channel, voltage-dependent, Alpha- CACNA1E 5

1E (CACNL1A6)

Calcium Channel, voltage-dependent, Alpha- CACNA2 5

2/delta

Calcium Channel, voltage-dependent, Beta 1 CACNBI 5

Calcium Channel, voltage-dependent, Beta 3 CACNB3 5

Calcium Channel, voltage-dependent, L type, CACNA1S 5 alpha IS subumt

Calcium Channel, voltage-dependent, CACNG2 5

Neuronal, Gamma

Calcium Channel, voltage-dependent, P/Q CACNA1A 5 type, alpha 1A subumt Calcium Channel, voltage-dependent, T-type 5

Calmodulin 1 CALM1 6

Calmodulin 2 CALM2 6

Calmodulin 3 CALM3 6

Calmodulin-dependant protein kinase II CAMK2A 6

Calnexin CANX 6

Calpain CAPN,CAPN3 1

Calretinin CALB2 5

Carbomc anhydrase 3 CA3 1

Carbonic anhydrase 4 CA4 1

Carbomc anhydrase, alpha CA1 1

Carbomc anhydrase, beta CA2 1

Cardiac-specific homeobox, CSX CSX 6

Ca nosinase 5

Caspase 1 CASP1 6

Caspase 10 CASP10 6

Caspase 2 CASP2 6

Caspase 3 CASP3 6

Caspase 4 CASP4 6

Caspase 5 CASP5 6

Caspase 6 CASP6 6

Caspase 7 CASP7 6

Caspase 8 CASP8 6

Caspase 9 CASP9 6

Catechol-o-methyltransferase COMT 1

CD1 CD1 1

CD4 CD4 1

Cell adhesion molecule, intercellular, LCAM ICAM1 6

Cell adhesion molecule, leukocyte- LECAM1 6 endothelial, LECAM (CD62)

Cell adhesion molecule, liver, LCAM LCAM 6

Cell adhesion molecule, neural, NCAM1 NCAM1 6

Cell adhesion molecule, neural, NCAM2 NCAM2 6

Cell adhesion molecule, platelet-endothelial, PECAM 6

PECAM

Cell adhesion molecule, vascular, VCAM VCAM1 6

Ceroid lipofuscinosis neuronal 2 CLN2 5

Ceroid lipofuscinosis neuronal 3 CLN3 5

Ceroid lipofuscinosis neuronal 4 CLN4 5

Ceroid lipofuscinosis neuronal 5 CLN5 5

Ceroid lipofuscinosis neuronal 6 CLN6 5

Chemokine receptor CXCR4 CXCR 4

Choline acetyltransferase CHAT 1

Chymotrypsinogen 1

Cockayne syndrome gene, CKN1 CKN1 6

Cofilin 3

Collagen I alpha 1 COL1A1 3 Collagen I alpha 2 COL1A2 3

Collagen II alpha 1 COL2A1 3

Collagen III alpha 1 COL3A1 3

Collagen IV alpha 1 COL4A1 3

Collagen IV alpha 2 COL4A2 3

Collagen TV alpha 3 COL4A3 3

Collagen IV alpha 4 COL4A4 3

Collagen IV alpha 5 COL4A5 3

Collagen IV alpha 6 COL4A6 3

Collagen IX alpha 2 COL9A2, EDM2 3

Collagen IX alpha 3 COL9A3 3

Collagen receptor COLR 3

Collagen V alpha 1 COL5A1 3

Collagen V alpha 2 COL5A2 3

Collagen VI alpha 1 COL6A1 3

Collagen VI alpha 2 COL6A2 3

Collagen VI alpha 3 COL6A3 3

Collagen VII alpha 1 COL7A1 3

Collagen X alpha 1 COL10A1 3

Collagen X alpha 1 COL11A1 3

Collagen XI alpha 2 COL11A2 3

Collagen XVII alpha 1 COL17A1 3

CorticotropMn-releasing hormone CRH 2

CorticotropMn-releasing hormone receptor CRHR1 2

Creb binding protein CREBBP 6

Cu2+ transporting ATPase beta polypeptide ATP7B

Cyclic AMP-dependent protein kinase PKA

Cyclic nucleotide phosphodiesterase 2A3 PDE2A3

Cyclic nucleotide phosphodiesterase 3 A PDE3A

Cyclic nucleotide phosphodiesterase 3B PDE3B

Cyclic nucleotide phosphodiesterase 4A PDE4A

Cyclic nucleotide phosphodiesterase 4C PDE4C

Cyclic nucleotide phosphodiesterase 5A PDE5A

Cyclic nucleotide phosphodiesterase 6A PDE6A

Cyclic nucleotide phosphodiesterase 6B PDE6B

Cyclic nucleotide phosphodiesterase 7 PDE7

Cyclic nucleotide phosphodiesterase 8 PDE8

Cyclic nucleotide phosphodiesterase 9A PDE9A

Cyclooxygenase 1 COX1

Cyclooxygenase 2 COX2

CYP11A1 CYP11A1

CYP11B1 CYP11B1

CYP11B2 CYP11B2

CYP17 CYP17

CYP19 CYP19

CYP1A1 CYP1N1

CYP1A2 CYP1N2 CYP1B1 CYP1B1

CYP21 CYP21

CYP24 CYP24

CYP27 CYP27

CYP27B1 PDDR

CYP2N1 CYP2N1

CYP2N13 CYP2N13

CYP2N3 CYP2N3

CYP2N6V2 CYP2N6V2

CYP2N7 CYP2N7

CYP2B6 CYP2B6

CYP2C18 CYP2C18

CYP2C19 CYP2C19

CYP2C8 CYP2C8

CYP2C9 CYP2C9

CYP2D6 CYP2D6

CYP2E1 CYP2E1

CYP2F1 CYP2F1

CYP2J2 CYP2J2

CYP3N3 CYP3N3

CYP3N4 CYP3N4

CYP3N5 CYP3N5

CYP3N7 CYP3N7

CYP4N11 CYP4N11

CYP4B1 CYP4B1

CYP4F2 CYP4F2

CYP4F3 CYP4F3

CYP51 CYP51

CYP5N1 CYP5N1

CYP7N CYP7N

CYP8 CYP8

Cystatin B CSTB 2

Cystatin C CST3 2

Cytidine-5-prime-triphosphate synthetase CTPS

Cytochrome a

Cytochrome c

Cytochrome c oxidase, MTCO

Cytokine-suppressive antiinflammatory drug- CSBPl 4 binding protein 1

Cytokine-suppressive antiinflammatory drug- CSBP2 4 binding protein 2

DAX1 nuclear receptor DAX1

Deleted in malignant brain tumours 1 DMBT1 6

Delta- 7-dehydrocholesterol reductase DHCR7 1

Dihydrolipoamide branched chain DBT 5 transacylase

Dihydroxyacetonephosphate acyltransferase DHAPAT 1 Dopamine beta hydroxylase DBH 1

Dopamine receptors Dl DRD1 5

Dopamine receptors D2 DRD2 5

Dopamine receptors D3 DRD3 5

Dopamine receptors D4 DRD4 5

Dopamine receptors D5 DRD5 5

Dystoma 9 CSE 3

DystropMa myotonica DM,DMPK 1

DystropMa myotomca, atypical DM2 1

DystropMn DMD 3

Ectodermal Dysplasia 1 gene EDI 3

Empty spiracies (drosopMla) homologue 1 EMXL 6

Empty spiracies (drosopMla) homologue 2 EMX2 6

Endothelin 1 EDN1 5

Endothelin 2 EDN2 5

Endothelin 3 EDN3 5

Endothelin converting enzyme ECE1 5

Endothelin receptor type A EDNRA 5

Endothelin receptor type B EDNRB 5

Enolase ENOI 1

Epidermal growth factor EGF 6

Epidermal growth factor receptor EGFR 6

Epilepsy, bemgn neonatal 4 gene ICCA 1

Epilepsy, female restricted EFMR 1

Epilepsy, progressive myocionic 2 gene EPM2A 1

Excision repair complementation group 4 ERCC4 1 protein

Factor 1 (No. one) FI 4

Factor III F3 4

Factor IX F9 4

Factor V F5 4

Factor VII F7 4

Factor VIII F8 4

Factor X F10 4

Factor XI Fl l 4

Factor XII F12 4

Factor XIII A & B F13A & F13B 4

Fancom anemia, complementation group C FANCC 2

Fancom anemia, complementation group D FANCD 2

Fibrinogen alpha FGA 3

Fibrinogen beta FGB 3

Fibrinogen gamma FGG 3

Fibroblast growth factor FGF1 6

Fibroblast growth factor receptor 1 FGFR1 6

Fibroblast growth factor receptor 2 FGFR2 6

Fibroblast growth factor receptor 3 FGFR3 6

Fibronectin precursor FN1 6 Flightless-II, DrosopMla homolog of FLII 6

Follicle stimulating hormone receptor FSHR, ODG1 6

Follicle stimulating hormone, FSH FSHB 6

Formiminotiansferase 1

Fragile site, folic acid type, rare, fra(X) A FRAXA 5

Fragile site, folic acid type, rare, fra(X) E FRAXE 5

Fragile site, folic acid type, rare, fra(X) F FRAXF 5

Frataxin FRDA 6

Fukuyama type congemtal muscular dystiophy FCMD 6

Fumarase FH 1

GABA receptor, alpha 1 GABRA1 5

GABA receptor, alpha 2 GABRA2 5

GABA receptor, alpha 3 GABRA3 5

GABA receptor, alpha 4 GABRA4 5

GABA receptor, alpha 5 GABRA5 5

GABA receptor, alpha 6 GABRA6 5

GABA receptor, beta 1 GABRB1 5

GABA receptor, beta 2 GABRB2 5

GABA receptor, beta 3 GABRB3 5

GABA receptor, gamma 1 GABRG1 5

GABA receptor, gamma 2 GABRG2 5

GABN receptor, gamma 3 GABRG3 5

GABA transaminase ABAT 1

Galactosyltransferase 1 GT1 6

Galactosyltransferase, alpha 1,3 GGTA1 6

Galactosyltransferase, beta 3 B3GALT 6

Galanin GAL 5

Galamn receptor GALΝR1 5

Gamma-glutamyltransferase I GGT1 2

Gastric Intrinsic factor, GIF GIF 1

GDP dissociation inMbitor I GDI1 6

Glial-cell derived neurotropMc factor (GDΝF) 5 receptor

Gilal-cell derived neurotropMc factor, GDΝF GDΝF 5

Glioma cMoride ion Channel, GCC 6

G utamate decarboxylase, GAD GADI 1

Glutamate receptor 1 GLUR1 5

Glutamate receptor 2 GLUR2 5

Glutamate receptor 3 GLUR3 5

Glutamate receptor 4 GLUR4 5

Glutamate receptor 5 GLUR5 5

Glutamate receptor 6 GLUR6 5

Glutamate receptor 7 GLUR7 5

Glutamate receptor, ionotropic, ΝMDA 1 ΝMDAR1 5

Glutamate receptor, ionotropic, ΝMDA 2A ΝMDAR2A 5

Glutamate receptor, ionotropic, ΝMDA 2B NMDAR2B 5

Glutamate receptor, ionotropic, ΝMDA 2C NMDAR2C 5 Glutamate receptor, ionotropic, NMDA 2D NMDAR2D 5

Glutaryl-CoA dehydrogenase GCDH 1

GlutatMone GSH 2

GlutatMone S-transferase, GSTZI GSTZI

GlutatMone synthetase GSS

Glyceraldehyde-3 -phosphate GAPDH dehydrogenase, GAPDH

Glycerol kinase GK

Glycinamide ribonucleotide (GAR) GART transformylase

Glycine dehydrogenase GLDC

GM2 ganglioside activator protein, GM2A GM2A

Gonadotropin releasing hormone receptor GNRHR 6

GTP cylcohydrolase I GCH1 6

Guamne nucleotide-binding protein, alpha GNAOI 5 activating activity polypeptide, GNAO

Guanylate cyclase 2D, membrane (retina- GUCY2D specific)

Guanylate cyclase activator 1 A (retina) GUCA1A 1

Guanylyl cyclase 1

Haeme regulated inMbitor kinase 1

Haemoglobin alpha 1 HBA1 2

Haemoglobin alpha 2 HBA2 2

Haemoglobin beta HBB 2

Haemoglobin delta HBD 2

Haemoglobin gamma A HBG1 2

Haemoglobin gamma B HBG2 2

Haemoglobin gamma G HBGG 2

Heparan sulfamidase 1

Heparin binding epidermal growth factor HBEGF 6

Heparin Cofactor II HCF2 4

Hepatic lipase LIPC 1

Hexosamimdase A HEXA,TSD 1

Hexosamimdase B HEXB 1

Histamine receptors, Hl 5

Histamine receptors, H2 5

Histamine receptors, H3 5

Histidase 1

HLA-B associated transcript 1 BAT1

HMG-CoA reductase HMGCR 1

Holocarboxylase synthetase HLCS 1

Holoprosencephaly 1 HPE1 6

Holoprosencephaly 2 HPE2 6

Holoprosencephaly 3 HPE3 6

Holoprosenceohaly 4 HPE4 6

Hypoxia inducible factor 1 HIF1A 1

Hypoxia inducible factor 2 1 IC7 A and B 4

Mositol 1,4,5-triphosphate receptor 1 ITPR1 6

Inositol monophosphatase IMPA1 5

Insulin INS 6

Insulin receptor INSR 6

Insulin-like growth factor 1 IGF1 6

Insulin-like growth factor 1 receptor IGF1R 6

Insulin-like growth factor 2 IGF2 6

Insulin-like growth factor 2 receptor IGF2R 6

Integrin beta 1 ITGB1 6

Integrin beta 2 ITGB2 6

Integrin beta 3 ITGB3 6

Integrin beta 4 ITGB4 6

Integrin beta 5 ITGB5 6

Integrin beta 6 ITGB6 6

Integrin beta 7 ITGB7 6

Integrin, alpha 1 ITGAL 6

Integrin, alpha 2 ITGA2 6

Integrin, alpha 3 ITGA3 6

Integrin, alpha 4 ITGA4 6

Integrin, alpha 5 ITGA5 6

Integrin, alpha 6 ITGA6 6

Integrin, alpha 7 ITGA7 6

Integrin, alpha 8 ITGA8 6

Integrin, alpha 9 ITGA9 6

Integrin, alpha M ITGAM 6

Integrin, alpha X ITGAX 6

Inter-alpha-trypsin inMbitor, IATI 1

Interleukin(IL) 1 receptor IL1R 4

Interleukin(IL) 1, alpha IL1A 4 lnterleukin(IL) 1, beta IL1B 4 lnterleukin(IL) 10 IL10 4 lnterleukin(IL) 10 receptor IL10R 4 lnterieukin(IL) 11 IL11 4 lnterleukin(IL) 11 receptor IL11R 4 lnterleukin(IL) 12 IL12 4

Interleukin(IL) 12 receptor, beta IL12RB1 4

Interleukin(IL) 13 IL13 4 lnterleukin(IL) 13 receptor IL13R 4

Interleukin(IL) 2 IL2 4 lnterleukin(IL) 2 receptor, alpha IL2RA 4

Interleukin(IL) 2 receptor, gamma IL2RG 4 lnterleukin(IL) 3 IL3 4

Interleukin(IL) 3 receptor IL3R 4

Interleukin(IL) 4 IL4 4 lnterleukin(IL) 4 receptor IL4R 4

Interleukin(IL) 5 IL5 4 lnterleukin(IL) 5 receptor IL5R 4

Mterleukin(IL) 6 IL6 4

Mterleukin(IL) 6 receptor IL6R 4

Interleukin(IL) 7 IL7 4

Merlevιkin(IL) 7 receptor IL7R 4

Interleukin(IL) 8 IL8 4 lnterleukin(IL) 8 receptor IL8R 4 lnterleukin(IL) 9 IL9 4 lnterleukin(IL) 9 receptor IL9R 4 lnterleukin(IL) receptor antagomst 1 ILI RN, IL1RA

IP3 kinase 1

Kallikrein 3 KAK3 4

Kminogen, High molecular weight KNG 4

Kynuremnease 1

Lamimn 5, alpha 3 LAMA3 6

Lamimn 5, beta 3 LAMB3 6

Lamimn 5, gamma 2 LAMC2 6

Lamimn M LAMM 6

Lamimn receptor 1 LAMR1 6

Latent transforming growth factor-beta LTBP2 6 binding protein 2

Leptin LEP 6

Leptin receptor LEPR 6

Leukin 4

Leukocyte-specific transcript 1 LST-1 4

Leukotriene A4 hydrolase

Leukotriene A4 synthase LTA4S 1

Leukotriene B4 receptor 4

Leukotriene B4 synthase LTB4S 1

Leukotriene C4 receptor 4

Leukotriene C4 synthase LTC4S 1

Leukotriene D4/E4 receptor 4

LIM homeobox protein 1 LHX1 6

LIM-Kinase Ι (LINK-l) 4

Lipocortin 1 ANX4 4

Lipoprotein lipase LPL 4

Lipoprotein receptor, Low Density LDLR 2

Lipoprotein, High Density HDLDT1 2

Lipoprotein, Intermediate Density 2

Lipoprotein, Low Density 1 2

Lipoprotein, Low Density 2 2

Lipoprotein, Very Low Density VLDLR 2

Lipoprotein-associated coagulation factor LACI 4

Low density lipoprotein receptor-related LRP 2 protein precursor

Lymphoid enhancer-binding factor LEF-1 6 MAD (mothers against decapentaplegic, MADH4 6

DrosopMla) homologue 4

Malonyl CoA decarboxylase

Mannosidase, alpha B lysosomal MANB

Mannosidase, -beta A lysosomal MANBA

MetMomne synthase MTR

Methylmalonyl-CoA mutase MUT

Mevalonate kinase MVK

Mismatch repair gene, PMSL2 PMS2 6

Molybdenum cofactor synthesis 1 MOCS1

Molybdenum cofactor synthesis 2 MOCS2

Monoamine oxidase A MAOA

Monoamine oxidase B MAOB

Mucolipidoses GNPTA

Muscarimc receptor, Ml CHRM1 5

Muscarimc receptor, M2 CHRM2 5

Muscarimc receptor, M3 CHRM3 5

Muscarimc receptor, M4 CHRM4 5

Muscarimc receptor, M5 CHRM5 5

Myelin basic protein 3

N-acetylgIucosamine-6-sulfatase GNS 1

N-acetylglucosamimdase, alpha NAGLU 1 reductase

NB6 4

Nerve growth factor NGF 6

Nerve growth factor receptor NGFR 6

Neurite inMbitory protein 5

Neurofibromin 1 NF1 6

Neurofibromin 2 NF2 6

Neurofilament protein, NF68 NF68 3

Neurokinin A NKNA 5

Neurokimn B NKNB 5

Neuropeptide Y NPY 5

Neuropeptide Y receptor Yl NPY1R 5

Neuropeptide Y receptor Y2 NPY2R 5

Nitric oxide synthase 1, NOSl NOSl 1

Nitiic oxide synthase 2, NOS2 NOS2 1

Nitric oxide synthase 3, NOS3 NOS3 1

Notch 3 NOTCH3 6

Notch ligand -jagged 1 JAG 1, AGS 6

Nuclear factor 1-kappa-B-like gene IKBL 4

Nucieoside diphosphate kinase-A NDPKA 1

Oncogene bcI2 6

Oncogene sis PDGFB 6

OrmtMne delta-aminotransferase OAT 1

Omithine transcarbamoylase OTC, NMEl 1

Orthodenticle (DrosopMla) homolog 1 OTX1 6 Orthodenticle (DrosopMla) homolog 2 OTX2 6

Patched (DrosopMla) homolog, PTCH PTCH 6

Peroxisomal membrane protein 1 PXMP1 3

Peroxisomal membrane protein 3 PXMP3 2

Peroxisome biogenesis factor 1 PEX1 2

Peroxisome biogenesis factor 19 PEX19 2

Peroxisome biogenesis factor 6 PEX6 2

Peroxisome biogenesis factor 7 PEX7 2

Peroxisome receptor 1 PXR1 2

Persyn 3

Phosphoglucose isomerase GPI 1

Phosphoglycerate kinase 1 PGK1 1

Phospholipase A2, group 10 PLA2G 10 1

Phospholipase A2, group 1B PLA2G 1B 4

Phospholipase A2, group 2A PLA2G2A 4

Phospholipase A2, group 2B PLA2G2B 4

Phospholipase A2, group 4A PLA2G4A 4

Phospholipase A2, group 4C PLA2G4C 4

Phospholipase A2, group 5 PLA2G5 4

Phospholipase A2, group 6 PLA2G6 4

Phospholipase C alpha 4

Phospholipase C beta 4

Phospholipase C delta PLCD1 4

Phospholipase C epsilon 4

Phospholipase C gamma PLCG1 4

Phosphomannomutase 2 PMM2 6

Plasminogen PLG 1

Plasminogen activator inMbitor 1 PAI1 1

Plasminogen activator inMbitor 2 PAI2 1

Plasminogen activator receptor, Urokinase UPAR; PLAUR 3

Plasminogen activator, Tissue PLAT;TPA 1

Plasminogen activator, Urokinase UPAPLAU 1

Platelet derived growth factor PDGF 6

Platelet derived growth factor receptor PDGFR 6

Platelet glycoprotein I b, alpha GP1BA 4

Platelet glycoprotein I b, beta GP1BB 4

Platelet glycoprotein I b, gamma GPIBG 4

Platelet glycoprotein IX GP9 4

Platelet glycoprotein V GP5 4

Platelet-activating factor acetylhydrolase 2 PAFAH2 4

Platelet-activating factor receptor PAFR 4

Plectin 1 PLEC1 2

Polycystin 1 PKD1 2

Polycystin 2 PKD2 2

Potassium inwardly-rectifying Channel Jl KCNJ1 5

Potassium voltage-gated Channel El KCNE1 5

Potassium voltage-gated Channel Ql KCNQl 5 Potassium voltage-gated Channel Q2 KCN02 5

Potassium voltage-gated Channel Q3 KCNQ3 5

POU domain, class 1, transcription factor 1 POUIFI 6

(Pitl)

Prekallikrein

Prion protein PRNP 5

Procollagen N-protease 1

Proline dehydrogenase PRODH 1

Proopiomelanocortin POMC 5

Prostacyclin synthase 4

Prostaglandin 15-OH dehydrogenase HGPD, PGDH 4

Prostaglandin D - DP receptor 4

Prostaglandin El receptor 4

Prostaglandin E2 receptor 4

Prostaglandin E3 receptor 4

Prostaglandin F - FP receptor 4

Prostaglandin 12 receptor 2

Prostaglandin IP receptor 4

Protective protein for beta-galactosidase PPGB 1

Protein C PROC 4

Protein C inMbitor PCI 4

Protein kinase C, alpha PRKCA 1

Protein kinase C, gamma PRKCG 1

Protein kinase G 1

Protein phosphatase 1, regulatory (inMbitor) PPPIR3 1 subumt 3

Protein S PROS1 4

Prothrombin precursor F2 4

Purine nucleoside phosphorylase NP 1

Pyrroline-5-carboxylate synthetase PYCS 1

Pyruvate carboxylase PC 1

Ras-G-protein RAS 6

Remn REN 1

Replication factor C RFC2 1

RIGUI RIGUI 6

S100 calcium-binding protein AI S100A1 5

S100 calcium-binding protein A4 S100A4 5

S100 calcium-binding protein A5 S100A5 5

S100 calcium-binding protein A6 S100A6 5

S 100 calcium-binding protein A7 S100A7 5

S100 calcium-binding protein A9 S100A9 5

S 100 calcium-binding protein B S100B 5

Secretase, alpha 5

Secretase, beta 5

Secretase, gamma 5

Selectin E SELE 5

Selectin L SELL 5 Selectin P SELP 5

Serotonin N-acetyltransferase SNAT 1

Serotonin receptor, 5HT1 A HTR1A 5

Serotonin receptor, 5HT1B HTR1B 5

Serotonin receptor, 5HT1C HTR1C 5

Serotomn receptor, 5HT1 D HTR1D 5

Serotomn receptor, 5HT1 E HTR1E 5

Serotonin receptor, 5HT1 F HTR1F 5

Serotomn receptor, 5HT2A HTR2A 5

Serotonin receptor, 5HT2B HTR2B 5

Serotonin receptor, 5HT2C HTR2C 5

Serotonin receptor, 5HT3 HTR3 5

Serotomn receptor, 5HT4 HTR4 5

Serotomn receptor, 5HT5 HTR5 5

Serotonin receptor, 5HT6 HTR6 5

Serotonin receptor, 5HT7 HTR7 5

Sodium Channel, non-voltage gated 1, alpha SCNN1A 5

Sodium Channel, non-voltage gated 1, beta SCNN1B 5

Sodium Channel, non-voltage gated 1, SCNN1G 5 gamma

Sodium Channel, voltage-gated, type 1, beta SCN B 5 polypeptide

Solute carder family 1 (glutamate SLC1A1 2 transporter), member 1

Solute carrier family 1 (glutamate SLC1A2 2 transporter), member 2

Solute carrier family 12, member 1 SLC12A1 2

Solute carrier family 12, member 2 SLC12A2 2

Solute carrier family 12, member 3 SLC12A3 2

Solute carrier family 16 (monocarboxylate SLC16A1 2 transporter), member 1

Solute carrier family 16 (monocarboxylate SLC16A7 2 transporter), member 7

Solute carrier family 18, member 3 SLCl 8 A3 2

Solute carrier family 2 (facilitated glucose SLC2A1 2 transporter), member 1

Solute carrier family 20, member 3 SLC2OA3 2

Solute carrier family 5 (sodium/glucose SLC5AI 2 transporter), member 1

Solute carrier family 5 (sodium/glucose SLC5A2 2 transporter), member 2

Solute carrier family 5 (sodium/glucose SLC5A5 2 transporter), member 5

Solute carrier family 5, member 3 SLC5A3 2

Solute carrier family 6 (GAMMA- SLC6A1 2

AMINOBUTYRIC ACID transporter), member. Solute carrier family 6 (neurotiansmifter SLC6A3 2 transporter, dopamine), member 3

Solute carrier family 6 (neurotiansmifter SLC6A2 2 transporter, noradrenaline), member 2

Solute carder family 6 (neurotiansmifter SLC6A4 2 transporter, serotomn), member 4

Solute carrier family 7(amino acid SLC7A1 2 transporter), member 1

Solute carrier family 7(amino acid SLC7A2 2 transporter), member 2

Solute carrier family 7(amino acid SLC7A7 2 transporter), member 7

SpMngomyelinase SMPD1 1

Spinocerebellar ataxia 8 gene SCA8 5

Steroid 5 alpha reductase 1 SRD5A1 1

Steroid 5 alpha reductase 2 SRD5A2 1

Substance P 5

Succimc semi-aldehyde dehydrogenase SSADH 1

Sulfamidase SGSH 6

Sulfite oxidase SUOX 1

Superoxide dismutase 1 SOD1 1

Superoxide dismutase 3 SOD3 1

Surfeit 1 SURF1 6

Synapsin 1 a & 1 b SYΝ1 5

Synapsin 2a & 2b SYΝ2 5

Synaptic vesicle amine transporter SVAT 5

Synaptobrevin 1 SYB1 5

Synaptobrevin 2 SYB2 5

Synaptogyrin 5

Synaptophysin SYP 5

Synaptotagmin 1 SYT1 5

Synaptotagmin 2 SYT2 5

Syntaxin 1 STX1 5

Talin TLN 6

Tau protein MAPT 3

TEK, tyrosine kinase, endothelial TEK 1

Telomerase protein component 1

Thrombin receptor F2R 4

TMombopoietin THPO 6

TMomboxane N synthase I TBXASI 4

TMomboxane N2 TXA2 4

TMomboxane A2 receptor TBXA2R 4

Thyroxin-binding globulin TBG 2

Topoisomerase I 1

Transforming growth factor, beta 2 TGFB2 6

Transforming growth factor, beta receptor 2 TGFBR2 6

Tuberous sclerosis 1 TSC1 6 Tuberous sclerosis 2 TSC2 6

Tumour necrosis factor (TNF) receptor TRAF1 4 associated factor 1

Tumour necrosis factor (TNF) receptor TRAF2 4 associated factor 2

Tumour necrosis factor (TNF) receptor TRAF3 4 associated factor 3

Tumour necrosis factor (TNF) receptor TRAF4 4 associated factor 4

Tumour necrosis factor ('I NF) receptor TRAF5 4 associated factor 5

Tumour necrosis factor (TNF) receptor TRAF6 associated factor 6

Tumour necrosis factor alpha TNFA 4

Tumour necrosis factor alpha receptor TNFAR 4

Tumour necrosis factor beta TNFB 4

Tumour necrosis factor beta receptor TNFBR 4

Tumour protein p53 TP53.P53 6

Tumour protein p63 TP63 6

Tyrosine aminotransferase TAT 1

Tyrosine hydroxylase TH 1

Ubiquitin 6

Ubiquitin B UBB 6

Ubiquitin C UBC 6

Ubiquitin carboxyl-terminal esterase Ll UCHL1 6

UDP-glucuronosyltransferase 1 ugtld, UGT1 1

UDP-glucuronosyltransferase 2 UGT2 1

Undulin 1 COL14A1 3

Uridmediphosphate(UDP)-galactose-4- GALE 1 epimerase

Uroporphyrinogen III synthase UROS 1

Vacuolar proton pump, subumt 1 VPP1 5

Vacuolar proton pump, subunit 3 VPP3 5

Vasoactive intestinal polypeptide VIP 5

Vasoactive intestinal polypeptide receptor VIPR 5

Von Hippel-Lindau gene VHL 6

Wolf-Hirschhorn syndrome candidate 1 genee WHSC1 6

XantMne dehydrogenase XDH 1

Zinc finger protein 2 ZIC2 3,

Legende für die Spalte Proteinfunktion:

1 Enzym 2 Transport und Lagerung

3 Stniktur 4 Immumtät

5 Nervale Transmission 6 Wachstum und Differenzierung Tabelle 6 Demenz

Liste der Gene HUGO Protein¬

Gensymbol funktion

2,3-Bisphosphoglycerate mutase BPGM 1

3 beta Hydroxysteroid dehydrogenase 2 HSD3B2 1

5 , 10-Methylenetetrahydrofolate reductase MTHFR 1

(NADPH)

Acetylcholine receptor, nicotimc, alpha AI CHRNA1 5

Acetylcholine receptor, nicotimc, alpha A2 CHRNA2 5

Acetylcholine receptor, nicotimc, alpha A3 CHRNA3 5

Acetylcholine receptor, nicotimc, alpha A4 CHRNA4 5

Acetylcholine receptor, nicotimc, alpha A5 CHRNA5 5

Acetylcholine receptor, mcotimc, alpha A6 CHRNA6 5

Acetylcholine receptor, nicotimc, alpha A7 CHRNA7 5

Acetylcholine receptor, nicotimc, beta 1 CHRNB1 5

Acetylcholine receptor, nicotimc, beta 2 CHRNB2 5

Acetylcholine receptor, nicotimc, beta 3 CHRNB3 5

Acetylcholine receptor, nicotimc, beta 4 CHRNB4 5

Acetylcholine receptor, nicotimc, epsilon CHRNE 5

Acetylcholine receptor, nicotimc, gamma CHRNG 5

Acetylcholinesterase ACHE 1

Adducin, alpha ADD1 3

Adducin, beta ADD2 3

Adenosine receptor AI ADORA1 5

Adenosine receptor A2A ADORA2A 5

Adenosine receptor A2B ADORA2B 5

Adenosine receptor A3 ADORA3 5

Adenylate cyclase 1 ADCY1

Adenylate cyclase 2 ADCY2

Adenylate cyclase 3 AOCY3

Adenylate cyclase 4 ADCY4

Adenylate cyclase 5 ADCY5

Adenylate cyclase 6 ADCY6

Adenylate cyclase 7 ADCY7

Adenylate cyclase 8 ADCY8

Adenylate cyclase 9 ADCY9

Adrenergic receptor, alphal ADRA1 5

Adrenergic receptor, alpha2 ADRA2 5

Adrenergic receptor, betal ADRB1 5

Adrenergic receptor, beta2 ADRB2 5

Adrenergic receptor, beta3 ADRB3 5

AdrenocorticotropMc hormone (ACTH) ACTHR 6 receptor

Albumin, ALB ALB Aldosterone receptor MLR 6 alpha 2 Macroglobulin A2M 4 alphal-Antitrypsin PI 1 alpha2-Antiplasmin PLI 1 alpha-Synuclein SNCA 5

Aminopeptidase P XPNPEP2 1

Amyloid beta (A4) precursor protein-bindmg, APBB1 5

APBB1

Amyloid beta A4 precursor protein APP 5

Amyloid beta A4 precursor-like protein APLP 5

Angiopoietin 1 ANGPT1 6

Angiopoietin 2 ANGPT2 6

Angiotensin converting enzyme ACE,DCP1 1

Angiotensin receptor 1 AGTR1 2

Angiotensin receptor 2 AGTR2 2

Angiotensinogen AGT 1

Antidiuretic hormone receptor ADHR 2

AntitMombin III AT3 1

Apolipoprotein A 1 APOA1 2

Apoiipoprotein A 1 APOA2 2

Apolipoprotein B APOB 2

Apolipoprotein Cl APOC1 2

Apolipoprotein C2 APOC2 2

Apolipoprotein C3 APOC3 2

Apolipoprotein D APOD 2

Apolipoprotein E APOE 2

Apolipoprotein H APOH 2

Apoptosis antigen 1 APT1 4

Arginase ARG1 1

Argimne vasopressin AVP 5

Arginine vasopressin receptor 1 A AVPR1A 5

Argimne vasopressin receptor 1B AVPRL1B 5

Argimne vasopressin receptor 2 AVPR2 5

Arginosuccinate lyase ASL 1

Arginosuccinate synthetase ASS 1

Ataxia telangiectasia gene, AT ATM 6

ATP/ADP translocase 1

Atriai natriuretic peptide ANP 6

Atriai natriuretic peptide receptor A NPR1 6

Atriai natriuretic peptide receptor B NPR2 6

Atriai natriuretic peptide receptor C NPR3 6

Bagpipe homeobox, drosopMla homolog of, 1 BAPX1 6 beta-synuclein SNCB 5

Bleomycin hydrolase BLMH 1

Bradykimn receptor Bl 4

Bradykinin receptor B2 4

Brain derived neurotrophic factor BDNF 6 Brain derived neurotropMc factor (BDNF) BDNFR 6 receptor

Butyrylcholinesterase BCHE 1

Cadherin E CDH1 6

Cadherin EP 6

Cadherin N CDH2 6

Cadherin P CDH3 6

Calbindin 1 CALB1 6

Calbindin D9K CALB3 6

Calcineurin AI CALNA1 4

Calcineurin A2 CALNA2 4

Calcineurin A3 CALNA3 4

Calcineurin B

Calcitomn/Calcitomn gene-related peptide CALCA 5 alpha

Calcium Channel, voltage-dependent, alpha 1 F CACNA1F 5 subumt

Calcium Channel, voltage-dependent, Alpha- CACNA1B 5

1B (CACNL1A5)

Calcium Channel, voltage-dependent, Alpha- 1 C CACNA1C 5

Calcium Channel, voltage-dependent, Alpha- 1 D CACNA1D 5

Calcium Channel, voltage-dependent, Alpha- CACNA1E 5

1 E (CACNL1A6)

Calcium Channel, voltage-dependent, Alpha- CACNA2 5

2/delta

Calcium Channel, voltage-dependent, Beta 1 CACNB1 5

Calcium Channel, voltage-dependent, Beta 3 CACNB3 5

Calcium Channel, voltage-dependent, L type, CACNAL S 5 alpha IS subumt

Calcium Channel, voltage-dependent, CACNG2 5

Neuronal, Gamma

Calcium Channel, voltage-dependent, P/Q CACNA1A 5 type, alpha 1 A subumt

Calcium Channel, voltage-dependent, T-type 5

Calmodulin 1 CALM1 6

Calmodulin 2 CALM2 6

Calmodulin 3 CALM3 6

Calmodulin-dependant protein kinase II CAMK2A 6

Calnexin CANX 6

Calpain CAPN,CAPN3 1

Calreti n CALB2 5

Carbomc anhydrase 3 CA3 1

Carbomc anhydrase 4 CA4 1

Carbomc anhydrase, alpha CA1 1

Carbomc anhydrase, beta CA2 1

Cardiac-specific homeobox, CSX CSX 6

Caspase 1 CASP1 6 Caspase 10 C ASP 10 6

Caspase 2 CASP2 6

Caspase 3 CASP3 6

Caspase 4 CASP4 6

Caspase 5 CASP5 6

Caspase 6 CASP6 6

Caspase 7 CASP7 6

Caspase 8 CASP8 6

Caspase 9 CASP9 6

Catechol-o-methyltransferase COMT 1

CD1 CD1

CD4 CD4

Cell adhesion molecule, intercellular, ICAM ICAM1 6

Cell adhesion molecule, leukocyte-endothelial, LECAM1 6

LECAM (CD62)

Cell adhesion molecule, liver, LCAM LCAM 6

Cell adhesion molecule, neural, NCAM1 NCAM1 6

Cell adhesion molecule, neural, NCAM2 NCAM2 6

Cel adhesion molecule, platelet-endothelial, PECAM1 6

PECAM

Cell adhesion molecule, vascular, VCAM VCAM1 6

Chemokine receptor CXCR4 CXCR4 4

Choline acetyltransferase CHAT 1

Chymotrypsinogen 1

Cockayne syndrome gene, CKN1 CKN1 6

Cofilin 3

Collagen I alpha 1 COLIA1 3

Col agen I alpha 2 COLIA2 3

Co lagen II alpha 1 COL2N1 3

Collagen III alpha 1 COL3N1 3

Collagen IV alpha 1 COL4N1 3

Co lagen IV alpha 2 COL4N2 3

Collagen TV alpha 3 COL4N3 3

Collagen IV alpha 4 COL4N4 3

Collagen IV alpha 5 COL4N5 3

Collagen IV alpha 6 COL4N6 3

Collagen IX alpha 2 COL9N2, EDM2 3

Collagen IX alpha 3 COL9N3 3

Collagen receptor COLR 3

Collagen V alpha 1 COL5N1 3

Collagen V alpha 2 COL5N2 3

Collagen VI alpha 1 COL6N1 3

Collagen VI alpha 2 COL6N2 3

Collagen VI alpha 3 COL6N3 3

Collagen VII alpha l COL7N1 3

Collagen X alpha 1 COL10A1 3

Collagen X alpha 1 COLI 1 AI 3 Collagen XI alpha 2 COL11A2 3

Collagen XVII alpha l COL17A1 3

Corticotrophin releasing hormone CRH 2

Corticotiophin releasmg hormone receptor CRHR1 2

Cu2+ transporting ATPase beta polypeptide ATP7B

Cyclic AMP-dependent protem kinase PKA

Cyclic nucleotide phosphodiesterase 2A3 PDE2A3

Cyclic nucleotide phosphodiesterase 3 A PDE3A

Cyclic nucleotide phosphodiesterase 3B PDE3B

Cyclic nucleotide phosphodiesterase 4A PDE4A

Cyclic nucleotide phosphodiesterase 4C PDE4C

Cyclic nucleotide phosphodiesterase 5A PDE5A

Cyclic nucleotide phosphodiesterase 6A PDE6A

Cyclic nucleotide phosphodiesterase 6B PDE6B

Cyclic nucleotide phosphodiesterase 7 PDE7

Cyclic nucleotide phosphodiesterase 8 PDE8

Cyclic nucleotide phosphodiesterase 9A PDE9A

Cyclooxygenase 1 COX1

Cyclooxygenase 2 COX2

CYP11A1 CYP11A1

CYP11B1 CYP11B1

CYP11B2 CYP11B2

CYP17 CYP17

CYP19 CYP19

CYP1A1 CYP1A1

CYP1A2 CYP1A2

CYP1B1 CYP1B1

CYP21 CYP21

CYP24 CYP24

CYP27 CYP27

CYP27B1 PDDR

CYP2A1 CYP2A1

CYP2A13 CYP2A13

CYP2A3 CYP2A3

CYP2A6V2 CYP2A6V2

CYP2A7 CYP2A7

CYP2B6 CYP2B6

CYP2C18 CYP2C18

CYP2C19 CYP2C19

CYP2C8 CYP2C8

CYP2C9 CYP2C9

CYP2D6 CYP2D6

CYP2E1 CYP2E1

CYP2F1 CYP2F1

CYP2J2 CYP2J2

CYP3A3 CYP3A3

CYP3A4 CYP3A4 CYP3A5 CYP3A5

CYP3A7 CYP3A7

CYP4A11 CYP4A11

CYP4B1 CYP4B1

CYP4F2 CYP4F2

CYP4F3 CYP4F3

CYP51 CYP51

CYP5A1 CYP5A1

CYP7A CYP7A

CYP8 CYP8

CystatMone beta synthase CBS

Cystatin C CST3 2

Cystinosin CTNS 2

Cytidine-5-prime-triphosphate synthetase CTPS

Cytochrome a

CytocMome c

Cytochrome c oxidase, MTCO

Dihydrolipoyl succinyltransferase DLST

Dopamine beta hydroxylase DBH

Dopamine receptors Dl DRD1 5

Dopamine receptors D2 DRD2 5

Dopamine receptors D3 DRD3 5

Dopamine receptors D4 DRD4 5

Dopamine receptors D5 DRD5 5

Doublecortin, DCX DCX 3

Emerin EMD 2

Endothelin 1 DNI 5

Endothelin 2 EDN2 5

Endothelin 3 EDN3 5

Endothelin converting enzyme ECE1 5

Endothelin receptor type A EDNRA 5

Endothelin receptor type B EDNRB 5

Enolase ENO1 1

Epidermal growth factor EGF 6

Epidermal growth factor receptor EGFR 6

Epilepsy, progressive myoclomc 2 gene EPM2A 1

Excision repair complementation group 4 ERCC4 1 protein

Factor I (No. one) FI 4

Factor III F3 4

Factor IX F9 4

Factor V F5 4

Factor VII F7 4

Factor VIII F8 4

Factor X F10 4

Factor XI Fll 4

Factor XII F12 4 Factor XIII A & B F13A & F13B 4

Fancom anemia, complementation group A FANCA 2

Fibrinogen alpha FGA 3

Fibrinogen beta FGB 3

Fibrinogen gamma FGG 3

Fibroblast growth factor FGFI 6

Fibroblast growth factor receptor 1 FGFRL 6

Fibroblast growth factor receptor 2 FGFR2 6

Fibroblast growth factor receptor 3 FGFR3 6

Fibronectin precursor FN1 6

Follicle stimulating hormone receptor FSHR,ODGl 6

Follicle stimulating hormone, FSH FSHB 6

GABA receptor, alpha 1 GABRA1 5

GABA receptor, alpha 2 GABRA2 5

GABA receptor, alpha 3 GABRA3 5

GABA receptor, alpha 4 GABRA4 5

GABA receptor, alpha 5 GABRA5 5

GABA receptor, alpha 6 GABRA6 5

GABA receptor, beta 1 GABRB1 5

GABA receptor, beta 2 GABRB2 5

GABA receptor, beta 3 GABRB3 5

GABA receptor, gamma 1 GABRG1 5

GABA receptor, gamma 2 GABRG2 5

GABA receptor, gamma 3 GABRG3 5

GABA transaminase ABAT 1

Galactosyltransferase 1 GT1 6

Galactosyltransferase, alpha 1,3 GGTA1 6

Galactosyltransferase, beta 3 B3GALT 6

Gastric Intrinsic factor, GIF GIF 1

Glial-cell derived neurotropMc factor (GDNF) 5 receptor

Glial-cell derived neurotiopMc factor, GDNF GDNF 5

Glutamate decarboxylase, GAD GAD1 1

Glutamate receptor 1 GLUR1 5

Glutamate receptor 2 GLUR2 5

Glutamate receptor 3 GLUR3 5

Glutamate receptor 4 GLUR4 5

G utamate receptor 5 GLUR5 5

Glutamate receptor 6 GLUR6 5

Glutamate receptor 7 GLUR7 5

Glutamate receptor, ionotropic, NMDA 1 NMDAR1 5

Glutamate receptor, ionotropic, NMDA 2A NMDAR2A 5

Glutamate receptor, ionotropic, NMDA 2B NMDAR2B 5

Glutamate receptor, ionotropic, NMDA 2C NMDAR2C 5

Glutamate receptor, ionotropic, NMDA 2D NMDAR2D 5

Glutaryl-CoA dehydrogenase GCDH 1

GlutatMone GSH 2 Glutat one S-transferase, GSTZI GSTZI 1

Glyceraldehyde-3 -phosphate dehydrogenase, GAPDH 1

GAPDH

Glycerol kinase GK 1

Glycinamide ribonucleotide (GAR) GART 1 transformylase

Gonadotropin releasing hormone receptor GNRHR 6

Guanylyl cyclase 1

Haemoglobin alpha 1 HBAL 2

Haemoglobin alpha 2 HBA2 2

Haemoglobin beta HBB 2

Haemoglobin delta HBD 2

Haemoglobin gamma A HBGL 2

Haemoglobin gamma B HBG2 2

Haemoglobin gamma G HBGG 2

Heparan sulfamidase 1

Heparin binding epidermal growth factor HBEGF 6

Heparin Cofactor II HCF2 4

Hepatic lipase LIPC 1

Hexosamimdase A HEXA,TSD 1

Hexosamimdase B HEXB 1

Hippocampal cholinergic neurostimulating peptide, HCNP 5

Histamine receptors, Hl 5

Histamine receptors, H2 5

Histamine receptors, H3 5

Histidase 1

HLA-B associated transcript 1 BAT1

HMG-CoA reductase HMGCR 1

Holocarboxylase synthetase HLCS 1

Hypoxia inducible factor 1 HIF1A 1

Hypoxia inducible factor 2 1

IC7 A and B 4

Inositol monophosphatase IMPA1 5

Insulin INS 6

Insulin receptor INSR 6

Integrin beta 1 ITGB1 6

Integrin beta 2 ITGB2 6

Integrin beta 3 ITGB3 6

Integrin beta 4 ITGB4 6

Integrin beta 5 ITGB5 6

Integrin beta 6 ITGB6 6

Integrin beta 7 ITGB7 6

Integrin, alpha 1 ITGA1 6

Integrin, alpha 2 ITGA2 6

Integrin, alpha 3 ITGA3 6

Integrin, alpha 4 ITGA4 6

Mtegrin, alpha 5 ITGA5 6 Integrin, alpha 6 ITGA6 6

Integrin, alpha 7 ITGA7 6

Integrin, alpha 8 ITGA8 6

Integrin, alpha 9 ITGA9 6

Integrin, alpha M ITGAM 6

Integrin, alpha,X ITGAX 6

Interleukin(IL) 1 receptor IL1R 4

Interleukin(IL) 1, alpha IL1A 4

Interleukin(IL) l, beta IL1B 4

Interleukin(IL) 10 IL10 4

Interleukin(IL) 10 receptor IL10R 4

Interleukin(IL) II IL11 4

Interleukin(IL) 1 1 receptor IL11R 4

Interleukin(IL) 12 IL12 4

Interleukin(IL) 12 receptor, beta 1 IL12RB1 4 lnterleukin(IL) 13 IL13 4

Interleukin(IL) 13 receptor IL13R 4

Interleukin(IL) 2 IL2 4

Interleukin(IL) 2 receptor, alpha IL2RA 4

Interileukin(IL) 2 receptor, gamma IL2RG 4

Interleukin(IL) 3 IL3 4

Interleukin(IL) 3 receptor IL3R 4

Interleukin(IL) 4 IL4 4 lnterleukin(IL) 4 receptor IL4R 4

Interleukin(IL) 5 IL5 4

Interleukin(IL) 5 receptor IL5R 4 lnterleukin(IL) 6 IL6 4

Interleukin(IL) 6 receptor IL6R r

Interleukin(IL) 7 IL7 4

Interleukin(IL) 7 receptor IL7R 4

Inteeleukin(IL) 8 IL8 4

Interleukin(IL) 8 receptor IL8R 4

Interleukin(IL) 9 IL9 4 lnterleukin(IL) 9 receptor IL9R ^■ 4

Interleukin(IL) receptor antagomst 1 IL1 RN, IL1RA 4

IP3 kinase 1

Kallikrein 3 KAK3 4

Kininogen, High molecular weight KNG 4

Kynuremnease 1

Lamimn 5, alpha 3 LAMA3 6

Lamimn 5, beta 3 LAMB3 6

Lamimn 5, gamma 2 LAMC2 6

Lamimn M LAMM 6

Lamimn receptor 1 LAMR1 6

Latent tiansforrning growth factor-beta binding LTBP2 6 protein 2

Leptin LEP 6 Leptin receptor LEPR 6

Leukin 4

Leukocyte-specific transcript 1 LST-1 4

Leukotriene A4 hydrolase 4

Leukotriene A4 synthase LTA4S 1

Leukotriene B4 receptor 4

Leukotriene B4 synthase LTB4S 1

Leukotriene C4 receptor 4

Leukotriene C4 synthase LTC4S 1

Leukotriene D4/E4 receptor 4

LIM homeobox protein 1 LHX1 6

LIM-Kinase I (LINK-1) 4

Lipoprotein receptor, Low Density LDLR 2

Lipoprotein, High Density HDLDT1 2

Lipoprotein, Intermediate Density 2

Lipoprotein, Low Density I 2

Lipoprotein, Low Density 2 2

Lipoprotein, Very Low Density VLDLR 2

Low density lipoprotein receptor-related protein LRP 2 precursor

Lymphoid enhancer-binding factor LEF-1 6

MAD (mothers against decapentaplegic, MADH4 6

DrosopMla) homologue 4

Mannosidase, alpha B lysosomal MANB

Mannosidase, beta A lysosomal MANBA

MetMonine synthase MTR

Mismatch repair gene, PMSL2 PMS2

Molybdenum cofactor synthesis 1 MOSC1

Molybdenum cofactor synthesis 2 MOCS2

Monoamine oxidase A MAOA

Monoamine oxidase B MAOB

Muscarimc receptor, Ml CHRM1 5

Muscadmc receptor, M2 CHRM2 5

Muscarimc receptor, M3 CHRM3 5

Muscarimc receptor, M4 CHRM4 5

Muscarimc receptor, M5 CHRM5 5

Myelin basic protein 3

N-Acetylglucosamine-6-sulfatase GNS 1

N-Acetylglucosaminidase, alpha reductase NB6 NAGLU 1

Nerve growth factor NGF 6

Nerve growth factor receptor NGFR 6

Neurite inMbitory protein 5

Neuroendocrine convertase 1 NEC1, PCSK1 1

Neurofibromin 1 NF1 6

Neurofibromin 2 NF2 6

Neurofilament protein, NF68 NF68 3

Neurokinin A NKNA 5 Neurokimn B NKNB 5

Neuropeptide Y NPY 5

Neuropeptide Y receptor Yl NPY1R 5

Neuropeptide Y receptor Y2 NPY2R 5

Nitric oxide synthase 1, NOSl NOSl 1

Nitric oxide synthase 2, NOS2 NOS2 1

Nitric oxide synthase 3, NOS3 NOS3 1

Notch 3 NOTCH3 6

Nuclear factor 1-kappa-B-like gene IKB1 4

Nucleoside diphosphate kinase-A NDPKA 1

Oncogene bcI2 6

Oncogene sis PDGFB 6

OmitMne delta-aminotransferase OAT 1

Omitiiine transcarbamoylase OTC, NMEl 1

Parkin PARK2 5

Persyn 3

Phosphoglucose isomerase GPI 1

Phosphoglycerate kinase 1 PGK1 1

Phospholipase A2, group 10 PLA2G 10 4

Phospholipase A2, group 1B PLA2G1B 4

Phospholipase A2, group 2A PLA2G2A 4

Phospholipase A2, group 2B PLA2G2B 4

Phospholipase A2, group 4A PLA2G4A 4

Phospholipase A2, group 4C PLA2G4C 4

Phospholipase A2, group 5 PLA2G5 4

Phospholipase A2, group 6 PLA2G6 4

Phospholipase C alpha 4

Phospholipase C beta 4

Phospholipase C delta PLCD1 4

Phospholipase C epsilon 4

Phospholipase C gamma PLCG1 4

Plasminogen PLG 1

Plasminogen activator inMbitor 1 PAH 1

Plasminogen activator inMbitor 2 PAI2 1

Plasminogen activator receptor, Urokinase UPAR; PLAUR 3

Plasminogen activator, Tissue PLAT;TPA 1

Plasminogen activator, Urokinase UPA;PLAU 1

Platelet derived growth factor PDGF 6

Platelet derived growth factor receptor PDGFR 6

Platelet-activating factor receptor PAFR 4

Postsynaptic density-95 protein PSD95 5

Potassium inwardly-rectifying Channel Jl KCNJI 5

Potassium voltage-gated Channel El KCNE1 5

Potassium voltage-gated Channel Q 1 KCNQl 5

POU domain, class 1, transcription factor 1 (Pitl) POUIFI 6

Prekallikrein

Presemlin 1 PSEN1 2 Presemlin 2 PSEN2 2

Prion protein PRNP 5

Procoliagen N-protease 1

Proopiomelanocortin POMC 5

Prostacyclin synthase 4

Prostagiandin 15-OH dehydrogenase HGPD;PGDH 4

Prostagiandin D - DP receptor 4

Prostagiandin El receptor 4

Prostaglandin E2 receptor 4

Prostagiandin E3 receptor 4

Prostaglandin F - FP receptor 4

Prostaglandin 12 receptor 2

Prostaglandin IP receptor 4

Protective protein for beta-galactosidase PPGB 1

Protein C PROC 4

Protem C inMbitor PCI 4

Protein Mnase C, alpha PRKCA 1

Protein kinase C, gamma PRKCG 1

Protein kinase G 1

Protein phosphatase 1, regulatory (inMbitor) PPP1R3 1 subunit 3

Protein S PROS1 4

ProtMombin precursor F2 4

Purine nucleoside phosphorylase NP 1

Pyruvate carboxylase PC 1

Renin REN 1

Replication factor C RFC2 1

RIGUI RIGUI 6

S100 calcium-binding protein A3 S 100A3 5

S100 calcium-bindmg protein A4 S 100A4 5

S100 calcium-binding protein A5 S 100A5 5

S100 calcium-binding protein A7 S 100A7 5

S100 calcium-binding protein A8. S 100A8 5

S 100 calcium-binding protein B S 100B 5

S100 calcium-binding protein P S 100P 5

Secretase, alpha 5

Secretase, beta 5

Secretase, gamma 5

Selectin E SELE 5

Selectin L SELL 5

Selectin P SELP 5

Serotomn N-acetyltransferase SNAT 1

Serotonin receptor, 5HT1 A HTR1A 5

Serotomn receptor, 5HT1B HTR1B 5

Serotomn receptor, 5HT1C HTR1C 5

Serotonin receptor, 5HT1D HTR1D 5 ^'

Serotonin receptor, 5HT1E HTR1E 5 Serotomn receptor, 5HT1F HTR1F 5

Serotomn receptor, 5HT2A HTR2A 5

Serotonin receptor, 5HT2B HTR2B 5

Serotonin receptor, 5HT2C HTR2C 5

Serotonin receptor, 5HT3 HTR3 5

Serotomn receptor, 5HT4 HTR4 5

Serotonin receptor, 5HT5 HTR5 5

Serotomn receptor, 5HT6 HTR6 5

Serotomn receptor, 5HT7 HTR7 5

Sodium Channel, non-voltage gated 1, alpha SCNN1A 5

Sodium Channel, non-voltage gated 1, beta SCNN1B 5

Sodium Channel, non-voltage gated 1, gamma SCNN1G 5

Sodium Channel, voltage-gated, type 1, beta SCN1B 5 polypeptide

Solute carrier family 1 (glutamate transporter), SLC1A1 2 member 1

Solute carrier family 1 (glutamate transporter), SLC1A2 2 member 2

Solute carrier family 12, member 1 SLC12A1 2

Solute carrier family 12, member 2 SLC12A2 2

Solute carrier family 12, member 3 SLC12A3 2

Solute carrier family 8, member 3 SLC18A3 2

Solute carrier family 5 (sodium/glucose SLC5A1 2 tiansporter), member 1

Solute carrier family 5 (sodium/glucose SLC5A2 2 tiansporter), member 2

Solute carrier family 5 (sodium/glucose SLC5A5 2 transporter), member 5

Solute carrier family 5 member 3 SLC5A3 2

Solute carrier family 6 (GAMMA- SLC6A 2

AMINOBUTYRIC ACID transporter), member 1

Solute carrier family 6 (neurotiansmifter SLC6A3 transporter, dopamine), member 3

Solute carrier family 6 (neurotiansmifter tiansporter, noradrenaline), member 2

Solute carrier family 6 (neurotiansmifter SLC6A4 2 transporter, serotomn), member 4

SpMngomyelinase SMPD1 1

Substance P 5

Succimc semi-aidehyde dehydrogenase SSADH 1

Sulfite oxidase SUOX 1

Superoxide dismutase 1 SOD1 1

Superoxide dismutase 3 SOD3 1

Surfeit 1 SURF1 6

Synaptogyrin 5

Synaptophysin SYP 5

Syntaxin 1 STXI 5 Talin TLN 6

Tau protein MAPT 3

TEK, tyrosine kinase, endothelial TEK 1

Telomerase protein component 1

TMombin receptor F2R 4

TMombopoietin THPO 6

TMomboxane A synthase 1 TBXAS1 4

Topoisomerase 1 1

Transforming growth factor, beta 2 TGFB2 6

Transformmg growth factor, beta receptor 2 TGFBR2 6

Tumour necrosis factor (TNF) receptor TRAF1 4 associated factor 1

Tumour necrosis factor (TNF) receptor TRAF2 4 associated factor 2

Tumour necrosis factor (TNF) receptor TRAF3 4 associated factor 3

Tumour necrosis factor (TNF) receptor TRAF4 4 associated factor 4

Tumour necrosis factor (TNF) receptor TRAF5 4 associated factor 5

Tumour necrosis factor (TNF) receptor TRAF6 4 associated factor 6

Tumo ur necrosis factor alpha TNFA 4

Tumour necrosis factor alpha receptor TNFAR 4

Tumour necrosis factor beta TNFB 4

Tumour necrosis factor beta receptor TNFBR 4

Tumour protein p53 TP53.P53 6

Tumour protein p63 TP63 6

Tyrosine aminotransferase TAT 1

Tyrosine hydroxylase TH 1

Ubiquitin 66

Ubiquitin B UBB 6

Ubiquitin C UBC 6

Ubiquitin carboxyl-terminal esterase Ll UCHL1 6

UDP-glucuronosyltransferase 1 ugtld, UGT1 1

UDP-glucuronosyltransferase 2 UGT2 1

Uridinediphosphate(UDP)-galactose-4- GALE 1 epimerase

Uroporphyrinogen III -synthase UROS 1

Vacuolar proton pump, subumt 1 VPP1 5

Vacuolar proton pump, subumt 3 VPP3 5

Vasoactive intestinal polypeptide VIP 5

Vasoactive intestinal polypeptide receptor VIPR 5

XantMne dehydrogenase XDH 1 Legende für die Spalte Proteiiij-unktion:

1 Enzym 2 Transport und Lagerung

3 Struktur 4 Immumtät

5 Nervale Transmission 6 Wachstum und Differenzierimg

Tabelle 7 psychotische Störungen und Persönlichkeitsstörungen

Liste der Gene HUGO Protein¬

Gensymbol funktion

11 beta hydroxysteroid dehydrogenase 2 HSD11B2 1

5,10-methylenetetrahydrofolate reductase MTHFR 1

(NADPH)

Acetylcholine receptor, nicotimc, alpha AI CHRNA1 5

Acetylcholine receptor, nicotimc, alpha A2 CHRNA2 5

Acetylcholine receptor, mcotimc, alpha A3 CHRNA3 5

Acetylcholme receptor. nicotimc, alpha A4 CHRNA4 5

Acetylcholine receptor, nicotmic, alpha A5 CHRNA5 5

Acetylcholine receptor, nicotimc, alpha A6 CHRNA6 5

Acetylcholine receptor, nicotimc, alpha A7 CHRNA7 5

Acetylcholine receptor, mcotimc, beta 1 CHRNB1 5

Acetylcholine receptor, nicotimc, beta 2 CHRNB2 5

Acetylcholine receptor, nicotimc, beta 3 CHRNB3 5

Acetylcholine receptor, nicotimc, beta 4 CHRNB4 5

Acetylcholine receptor, nicotimc, epsilon CHRNE 5

Acetylcholine receptor, nicotimc, gamma CHRNG 5

Acetylcholinesterase ACHE 1

Adenosine receptor AI ADORA1 5

Adenosine receptor A2A ADORA2A 5

Adenosine receptor A2B ADO 2B 5

Adenosine receptor A3 ADORA3 5

Adenylate cyclase 1 ADCY1

Adenylate cyclase 2 ADCY2

Adenylate cyclase 3 ADCY3

Adenylate cyclase 4 ADCY4

Adenylate cyclase 5 ADCY5

Adenylate cyclase 6 ADCY6

Adenylate cyclase 7 ADCY7

Adenylate cyclase 8 ADCY8

Adenylate cyclase 9 ADCY9

Adenylosuccinate lyase ADSL

Adrenergic receptor, alphal ADRA1 5

Adrenergic receptor, alpha2 ADRA2 5

Adrenergic receptor, betal ADRB1 5

Adrenergic receptor, beta2 ADRB2 5

Adrenergic receptor, beta3 ADRB3 5

AdrenocorticotropMc hormone (ACTH) ACTHR 6 receptor

Albumin, ALB ALB 2 alpha 1-antichymotrypsin AACT 1 alpha-synuclein SNCA 5 Amyloid beta A4 precursor protein APP 5

Amyloid beta A4 precursor-like protein APLP 5

Apolipoprotein A I APOA1 2

Apolipoprotein A II APOA2 2

Apolipoprotein B APOB 2

Apolipoprotein Cl APOC1 2

Apolipoprotein C2 APOC2 2

Apolipoprotein C3 APOC3 2

Apolipoprotein D APOD 2

Apolipoprotein E APOE 2

Apolipoprotein H APOH 2

Arginosuccinate synthetase ASS 1

Arylsuffatase A ARSA 1

Ataxia telangiectasia gene, AT ATM 6

ATP/ADP translocase 1

Atriai natriuretic peptide ANP 6

Atriai natriuretic peptide receptor A NPR1 6

Atriai natriuretic peptide receptor B NPR2 6

Atriai natriuretic peptide receptor C NPR3 6

Bagpipe homeobox, drosopMla homolog of, 1 BAPX1 6 beta-synuclein SNCB 5

Brain derived neurotrophic factor BDNF 6

Brain derived neurotropMc factor (BDNF) BDNFR 6 receptor

Cl inMbitor 1

Ca(2+) transporting ATPase, slow twitch albindin ATP2A2 2

Calbindin D9K CALB1 6

Calcineurin AI CALB3 6

Calcineurin A2 CALNA1 4

Calcmeurin A3 CALNA2 4

Calcineurin B CALNA3 4

Calcitomn/Calcitomn gene-related peptide CALCA 5 alpha

Calcium Channel, voltage-dependent, alpha 1 F CACNA 1F 5 subumt

Calcium Channel, voltage-dependent, Alpha- CACNA 1B 5

I B (CACNL1 A5)

Calcium Channel, voltage-dependent, Alpha- CACNA IC 5

I C

Calcium Channel, voltage-dependent, Alpha- CACNA ID 5

1 D

Calcium Channel, voltage-dependent, Alpha- CACNA 1E 5

I E (CACNL1A6)

Calcium Channel, voltage-dependent, Alpha- CACNA2 5

2/delta

Calcium Channel, voltage-dependent, Beta 1 CACNB1 5

Calcium Channel, voltage-dependent, Beta 3 CACNB3 5 Calcium Channel, voltage-dependent, CACNG2

Neuronal, Gamma

Calcium Channel, voltage-dependent, T-type 5

Calmodulin 1 CALM1 6

Calmodulm 2 CALM2 6

Calmodulin 3 CALM3 6

Calmodulin-dependant protein kinase II CAMK2A 6

Calnexin CANX 6

Calpain CAPN, CAPN3 1

Calretinin CALB2 5

Cannabinoid receptor CNR1 5

Carbomc anhydrase 3 CA3 1

Carbomc anhydrase 4 CA4 1

Carbomc anhydrase, alpha CA1 1

Carbomc anhydrase, beta CA2 1

Cardiac-specific homeobox, CSX CSX 6

Caspase 1 CASP1 6

Catechol-o-methyltransferase COMT 1

Ceroid lipofuscinosis neuronal 2 CLN2 5

Ceroid lipofuscinosis neuronal 3 CLN3 5

Ceroid lipofuscinosis neuronal 4 CLN4 5

Ceroid lipofuscinosis neuronal 5 CLN5 5

Ceroid lipofuscinosis neuronal 6 CLN6 5

Chemokine receptor CCR5 CCR5 4

Chemokine receptor CXCR4 CXCR4 4

Cholecystokimn CCK 5

Cholecystokimn B receptor CCKBR 5

Choline acetyltransferase CHAT 1

Chymotrypsinogen 1

Ciliary neurotropMc factor (CNTF) CNTF 6

Ciliary neurotropMc factor (CNTF) receptor CNTFR 6

Citrate synthase 1

Colony-stimulating factor 2 CSF2 6

Colony-stimulating factor 2 alpha receptor CSF2RA 6

CorticotropMn-releasing hormone CRH 2

CorticotropMn-releasmg hormone receptor CRHR1 2

Cu2+ transporting ATPase beta polypeptide ATP7B 1

Cyclic AMP response element binding protein CREB 6

Cyclic AMP-dependent protein kinase PKA

Cyclic nucleotide phosphodiesterase 1 B PDE1B

Cyclic nucleotide phosphodiesterase 1 B 1 PDE1B1

Cyclic nucleotide phosphodiesterase 2A3 PDE2A3

Cyclic nucleotide phosphodiesterase 3 A PDE3A

Cyclic nucleotide phosphodiesterase 3B PDE3B

Cyclic nucleotide phosphodiesterase 4A PDE4A

Cyclic nucleotide phosphodiesterase 4C PDE4C

Cyclic nucleotide phosphodiesterase 5 A PDE5A Cyclic nucleotide phosphodiesterase 6N PDE6N 1

Cyclic nucleotide phosphodiesterase 6B PDE6B 1

Cyclic nucleotide phosphodiesterase 7 PDE7 1

Cyclic nucleotide phosphodiesterase 8 PDE8 1

Cyclic nucleotide phosphodiesterase 9N PDE9N 1

Cyclooxygenase 1 COX1 1

Cyclooxygenase 2 COX2 1

CYP11N1 CYP11N1 1

CYP11B1 CYP11B1 1

CYP11B2 CYP11B2 1

CYP17 CYP17 1

CYP19 CYP19 1

CYP1N1 CYP1A1 1

CYP1N2 CYP1A2 1

CYP1B1 CYP1B1 1

CYP21 CYP21 1

CYP24 CYP24 1

CYP27 CYP27 1

CYP27B1 PDDR 1

CYP2N1 CYP2A1 1

CYP2N13 CYP2A13 1

CYP2N3 CYP2A3 1

CYP2N6V2 CYP2A6V2 1

CYP2N7 CYP2A7 1

CYP2B6 CYP2B6 1

CYP2C18 CYP2C18 1

CYP2C19 CYP2C19 1

CYP2C8 CYP2C8 1

CYP2C9 CYP2C9 1

CYP2D6 CYP2D6 1

CYP2E1 CYP2E1 1

CYP2F1 CYP2F1 1

CYP2J2 CYP2J2 1

CYP3N3 CYP3A3 1

CYP3N4 CYP3A4 1

CYP3N5 CYP3A5 1

CYP3N7 CYP3A7 1

CYP4N11 CYP4A11 1

CYP4B1 CYP4B1 1

CYP4F2 CYP4F2 1

CYP4F3 CYP4F3 1

CYP51 CYP51 1

CYP5N1 CYP5A1 1

CYP7N CYP7A 1

CYP8 CYP8 1

CystatMonase CTH 1

CystatMone beta synthase CBS 1 Cytidine deaminase CDA

Cytidine-5-prime-triphosphate synthetase CTPS

CytocMome a

CytocMome c

CytocMome c oxidase, MTCO

Delta aminolevulinate dehydratase ALAD

Delta-7-dehydrocholesterol reductase DHCR7

Dihydrolipoamide succinyltransferase 5

Dopamine beta hydroxylase DBH 1

Dopamine receptors Dl DRD1 5

Dopamine receptors D2 DRD2 5

Dopamine receptors D3 DRD3 5

Dopamine receptors D4 DRD4 5

Dopamine receptors D5 DRD5 5

Endothelin 1 EDN1 5

Endothelin 2 EDN2 5

Endothelin 3 EDN3 5

Endothelin converting enzyme ECE1 5

Endothelin receptor type A EDNRA 5

Endothelin receptor type B EDNRB 5

Enolase ENO1 1

Epidermal growth factor EGF 6

Epidermal growth factor receptor EGFR 6

Excision repair complementation group 4 ERCC4 1 protein

Fibroblast growth factor FGF1 6

Fibroblast growth factor receptor 1 FGFR1 6

Fibroblast growth factor receptor 2 FGFR2 6

Fibroblast growth factor receptor 3 FGFR3 6

Flightless-II, DrosopMla homolog of FLII 6

Fragile site, folic acid type, rare, fra(X) A FRAXA 5

Fragile site, folic acid type, rare, frafX) E FRAXE 5

Fragile site, folic acid type, rare, fra(X) F FRAXF 5

GABA receptor, alpha 1 GABRA1 5

GABA receptor, alpha 2 GABRA2 5

GABA receptor, alpha 3 GABRA3 5

GABA receptor, alpha 4 GABRA4 5

GABA receptor, alpha 5 GABRA5 5

GABA receptor, alpha 6 GABRA6 5

GABA receptor, beta 1 GABRB1 5

GABA receptor, beta 2 GABRB2 5

GABA receptor, beta 3 GABRB3 5

GABA receptor, gamma 1 GABRGI 5

GABA receptor, gamma 2 GABRG2 5

GABA receptor, gamma 3 GABRG3 5

GABA transaminase ABAT 1

GDP dissociation inMbitor 1 GDI 1 6 Gemospasm 1 GSM1 6

Glial-cell derived neurotropMc factor (GDNF) 5 receptor

Glial-cell derived neurotropMc factor, GDNF GDNF 5

Glutamate decarboxylase, GAD GAD1 1

Glutamate receptor 1 GLUR1 5

Glutamate receptor 2 GLUR2 5

Glutamate receptor 3 GLUR3 5

Glutamate receptor 4 GLUR4 5

Glutamate receptor 5 GLUR5 5

Glutamate receptor 6 GLUR6 5

Glutamate receptor 7 GLUR7 5

Glutamate receptor, ionotropic, NMDA 1 NMDAR1 5

Glutamate receptor, ionotropic, NMDA 2A NMDAR2A 5

Glutamate receptor, ionotropic, NMDA 2B NMDAR2B 5

Glutamate receptor, ionotropic, NMDA 2C NMDAR2C 5

Glutamate receptor, ionotropic. NMDA 2D NMDAR2D 5

Glutaryl-CoA dehydrogenase GCDH 1

GlutatMone GSH 2

GlutatMone S-transferase, GSTZI GSTZI 1

Glyceraldehyde-3 -phosphate dehydrogenase, GAPDH 1

GAPDH

Glycerol kinase GK 1

Glycinamide ribonucleotide (GAR) GART 1 transformylase

Gonadotropin releasing hormone receptor GNRHR 6

Guamdinoacetate N-methyltransferase GAMT 1

Guamne nucleotide-binding protein, alpha GNAO1 5 activating activity polypeptide, GNAO

Guamne nucleotide-binding protein, alpha GNAI1 5 inMbiting activity polypeptide 1, GNAI1

Guamne nucleotide-binding protein, alpha GNAI2 5 inMbiting activity polypeptide 2, GNAI2

Guamne nucleotide-binding protein, alpha GNAI3 5 inMbiting activity polypeptide 3, GNAI3

Guamne nucleotide-binding protein, alpha GNAS1 5 stimulating activity polypeptide, GNAS1

Guanine nucleotide-binding protein, alpha GNAS2 5 stimulating activity polypeptide, GNAS2

Guanine nucleotide-binding protein, alpha GNAS3 5 stimulating activity polypeptide, GNAS3

Guamne nucleotide-binding protein, alpha GNAS4 5 stimulating activity polypeptide, GNAS4

Guanine nucleotide-binding protem, alpha GNAT1 5 transducing activity polypeptide, GNAT1

Guanine nucleotide-bmding protem, alpha GNAT2 5 transducing activity polypeptide, GNAT2 Guanine nucleotide-bmding protein, beta GNB3 5 polypeptide 3

Guanine nucleotide-binding protein, GNAQ 5 polypeptide

Guanylate cyclase 2D, membrane (retina- GUCY2D 1 specific)

Guanylate cyclase activator 1A (retma) GUCA1A 1

Guanylyl cyclase 1

Heat shock protein, HSP60 4

Heat shock protein, HSP70 4

Heat shock protein, HSP90 4

Heat shock protein, HSPA1 4

Heat shock protein, HSPA2 4

Heparan sulfamidase 1

Hepatic lipase LIPC 1

Histamine receptors, Hl 5

Histamine receptors, H2 5

Histamine receptors, H3 5

HMG-CoA reductase HMGCR 1

Huntingtin HD 2

HypoxantMne-guamne HPRT 1 phosphoribosyltransferase, HGPRT

Hypoxia inducible factor 1 HIF1A 1

Hypoxia mducible factor 2 1

Inositol monophosphatase IMPA1 5

Insulm INS 6

Insulin receptor INSR 6 lnterleuldn(IL) 1 receptor IL1R 4 lnterleukin(IL) 1, alpha IL1A 4

Interleukin(IL) 1, beta IL1B 4

Interleukin(IL) 10 IL10 4 lnterleukin(IL) 10 receptor IL10R 4 lnterleukin(IL) 11 IL11 4

Mterleuldn(IL) 11 receptor IL11R 4

Interleukin(IL) 12 IL12 4

Interleukin(IL) 12 receptor, beta 1 IL12RB1 4

Interleukin(IL) 13 IL13 4

Interleukin(IL) 13 receptor IL13R 4

Interleukin(IL) 2 IL2 4

Interleukin(IL) 2 receptor, alpha IL2RA 4 lnterleukin(IL) 2 receptor, gamma IL2RG 4

Interleukin(IL) 3 IL3 4

Mterleukin(IL) 3 receptor IL3R 4

Interleukin(IL) 4 IL4 4

Mterleukin(IL) 4 receptor IL4R 4

Interleukin(IL) 5 IL5 4

Interleukin(IL) 5 receptor IL5R 4 Interleukin(IL) 6 IL6 4

Interleukin(IL) 6 receptor IL6R 4 lnterleukin(IL) 7 IL7 4

Interleukin(IL) 7 receptor IL7R 4

Interleukin(IL) 8 IL8 4

Interleukin(IL) 8 receptor IL8R 4 lnterleukin(IL) 9 IL9 4

Interleukin(IL) 9 receptor IL9R 4 lnterleukin(IL) receptor antagomst 1 IL1 RN, IL1RA 4

IP3 kinase 1

Leukin 4

Mismatch repair gene, PMSL2 PMS2 6

Monoamine oxidase A MAOA 1

Monoamine oxidase B MAOB 1

Muscarimc receptor, Ml CHRM1 5

Muscarimc receptor, M2 CHRM2 5

Muscarimc receptor, M3 CHRM3 5

Muscarimc receptor, M4 CHRM4 5

Muscarinic receptor. M5

CHRM5 5

Myelin basic protein 3

Myosin, light chain 3 MYL3 3 reductase

Nerve growth factor NGF 6

Nerve growth factor receptor NGFR 6

Neurite inMbitory protein 5

Neurofibromin 1 NF1 6

Neurofibromin 2 NF2 6

Neurofilament protein, NF68 NF68 3

Neurokinin A NKNA 5

Neurokimn B NKNB 5

Neuropeptide Y NPY 5

Neuropeptide Y receptor Yl NPY1R 5

Neuropeptide Y receptor Y2 NPY2R 5

Neurotensin NTS 5

Neurotensin receptor NTSR1 5

Nitric oxide synthase 1, NOSl NOSl 1

Nitric oxide synthase 2, NOS2 NOS2 1

Nitric oxide synthase 3, NOS3 NOS3 1

Nucleoside diphosphate kinase-A NDPKA 1

Oncogene sis PDGFB 6

Opioid receptor, delta OPRD1 5

Opioid receptor, kappa OPRKI 5

Opioid receptor, mu OPRMI 5

Ormthine delta-aminotransferase OAT 1

Paraoxonase PON1 PON1 1

Parldn PARK2 5 Phospholipase A2, group 10 PLA2G10 4

Phospholipase A2, group 1B PLA2G1B 4

Phospholipase A2, group 2A PLA2G2A 4

Phospholipase A2, group 2B PLA2G2B 4

Phospholipase A2, group 4A PLA2G4A 4

Phospholipase A2, group 4C PLA2G4C 4

Phospholipase A2, group 5 PLA2G5 4

Phospholipase A2, group 6 PLA2G6 4

Phospholipase C alpha 4

Phospholipase C beta 4

Phospholipase C delta PLCD1 4

Phospholipase C epsilon 4

Phospholipase C gamma PLCG1 4

Platelet derived growth factor PDGF 6

Platelet derived growth factor receptor PDGFR 6

Potassium inwardly-rectifying Channel Jl KCNJL 5

POU domain, class 1, transcription factor 1 POUIFI 6

(Pitl)

Presemlin 1 PSEN1 2

Presemlin 2 PSEN2 2

Prion protein PRNP 5

Proline dehydrogenase PRODH 1

Proopiomelanocortin POMC 5

Prosaposin PSAP 5

Protective protein for beta-galactosidase PPGB

Protein kinase C, alpha PRKCA

Protein kinase C, gamma PRKCG

Protein kinase G

Protein phosphatase 1, regulatory (inMbitor) PPP1R3 subumt 3

Proteolipid protein PLP 5

RIGUI RIGUI 6

S100 calcium-binding protein A2 S100A2 5

S100 calcium-binding protein A3 S100A3 5

S100 calcium-binding protein A4 S 100 A4 5

S100 calcium-binding protein A5 S100A5 5

S100 calcium-binding protem A7 S100A7 5

S100 calcium-binding protein A8 S100A8 5

S100 calcium-binding protein A9 S100A9 5

S100 calcium-binding protein B S100B 5

S100 calcium-binding protein P S100P 5

Secretase, alpha 5

Secretase, beta 5

Secretase, gamma 5

Serotonin N-acetyltransferase SNAT 1

Serotomn receptor, 5HT1 A HTR1A 5

Serotomn receptor, 5HT1B HTR1B 5 Serotomn receptor, 5HT1C HTR1C 5

Serotonin receptor, 5HT1D HTR1D 5

Serotonin receptor, 5HT1E HTR1E 5

Serotonin receptor, 5HT1F HTR1F 5

Serotomn receptor, 5HT2A HTR2A 5

Serotonin receptor, 5HT2B HTR2B 5

Serotomn receptor, 5HT2C HTR2C 5

Serotomn receptor, 5HT3 HTR3 5

Serotonin receptor, 5HT4 HTR4 5

Serotonin receptor, 5HT5 HTR5 5

Serotomn receptor, 5HT6 HTR6 5

Serotomn receptor, 5HT7 HTR7 5

Sodium Channel, non-voltage gated 1, alpha SCNN1A 5

Sodium Channel, non-voltage gated 1, beta SCNN1B 5

Sodium Channel, non-voltage gated 1, gamma SCNN1G 5

Sodium Channel, voltage-gated, type 1, beta SCN1B 5 polypeptide

Solute carrier family 12, member 1 SLC12A1 2

Solute carrier family 12, member 2 SLC12A2 2

Solute carrier family 12, member 3 SLC12A3 2

Solute carrier family 4 (amon exchanger), SLC4A1 2 member 1

Solute carrier family 4 (amon exchanger), SLC4A2 2 member 2

Solute carrier family 4 (amon exchanger), SLC4A3 2 member 3

Solute carrier family 5 (sodium/glucose SLC5A1 2 transporter), member 1

Solute carrier family 5 (sodium/glucose SLC5A2 2 tiansporter), member 2

Solute carrier family 5 (sodium/glucose SLC5A5 2 tiansporter), member 5

Solute carrier family 5, member 3 SLC5A3 2

Solute carrier family 6 (GAMMA- SLC6A2 2

AMINOBUTYRIC ACID transporter), member 1

Solute carrier family 6 (neurotransmitter SLC6A3 2 transporter, dopamine), member 3

Solute carrier family 6 (neurotransmitter SLC6A2 2 transporter, noradrenaline), member 2

Solute carrier family 6 (neurotransmitter SLC6A4 2 transporter, serotomn), member 4

Superoxide dismutase 1 SOD1 1

Superoxide dismutase 3 SOD3 1

Synapsin la & lb SYN1 5

Synapsin 2a & 2b SYN2 5

Synaptic vesicle amine transporter SVAT 5

Synaptogyrin 5 Synaptophysin SYP 5

Synaptosomal-associated protein, 25KD SNAP25 5

Syntaxin 1 STX1 5

Tachykimn receptor, NK1R TACR1 5

Tachykinin receptor, NK2R TACR2 5

Tachykimn receptor, NK3R TACR3 5

Talin TLN 6

TEK, tyrosine kinase, endothelial TEK 1

Telomerase protein component 1

Transcobalamin 1, TCN1 2

Transcobalamin 2, TCN2 TCN2 2

Transcription factor, TUPLE1 TUPLE1 5

Transforming growth factor, beta 2 TGFB2 6

Transforming growth factor, beta induced TGFBI 6

Transforaiing growth factor, beta receptor 2 TGFBR2 6

Transthyretin TTR 2

Trypsin inMbitor 1

Tryptophan 2,3-dioxygenase TDO2 5

Tryptophan hydroxylase TPH 1

Tumour necrosis factor (TNF) receptor TRAF1 4 associated factor 1

Tumour necrosis factor (TNF) receptor TRAF2 4 associated factor 2

Tumour necrosis factor (TNF) receptor TRAF3 4 associated factor 3

Tumour necrosis factor (TNF) receptor TRAF4 4 associated factor 4

Tumour necrosis factor (TNF) receptor TRAF5 4 associated factor 5

Tumour necrosis factor (TNF) receptor TRAF6 4 associated factor 6

Tumour necrosis factor alpha TNFA 4

Tumour necrosis factor alpha receptor TNFAR 4

Tumour necrosis factor beta TNFB 4

Tumour necrosis factor beta receptor TNFBR 4

Tyrosinase TYR 1

Tyrosine hydroxylase TH 1

Ubiquitin 6

Ubiquitin activating enzyme, El 1

Ubiquitin B UBB 6

Ubiquitin C UBC 6

Ubiquitin protein ligase E3 A UBE3A 1

UDP-glucuronosyltransferase 1 ugtld, UGTI 1

UDP-glucuronosyltransferase 2 UGT2 1

Uridinediphosphate(UDP)-galactose-4- GALE 1 epimerase

Vacuolar proton pump, subumt 1 VPP1 5 Vacuolar proton pump, subumt 3 VPP3 5 Vesicular monoamine transporter 1 VMAT1 5 Vesicular monoamine transporter 2 VMAT2 5,

Legende für die Spalte Proteiι__-unktion:

1 Enzym 2 Transport und Lagerung

3 Struktur 4 Immumtät

5 Nervale Transmission 6 Wachstum und Differenzierimg

Tabelle 8 kardiovaskuläre Krankheit, Fehlfunktion oder Schädigung

Liste der Gene HUGO Protein¬

Gensymbol funktion

17beta hydroxysteroid oxidoreductase 1

2,3-bisphosphoglycerate mutase BPGM

3 beta hydroxysteroid dehydrogenase 2 HSD3B2

3-oxoacid CoA transferase OXCT

5, 10-methylenetetrahydrofolate reductase MTHFR

(NADPH)

Acetoacetyl 1-CoA-tMolase ACAT1

Acetoacetyl 2-CoA-tMolase ACAT2

Acetyl CoA acyltransferase ACAA

Acety[cholinesterase ACHE

Acid phosphatase 2, lysosomal ACP2

Acidic amino acid transporter 2

Actin, alpha, cardiac ACTC 3

Actin, alpha, skeletal ACTAL 3

Actin, alpha, smooth, aortic ACTA2 3

Activin A receptor, type 2B ACVR2B 6

Acyl CoA dehydrogenase, long cham ACADL 1

Acyl CoA dehydrogenase, very long chain ACADVL 1

Adaptin, beta 3 A ADTB3A 2

Adducin, alpha ADDI 3

Adducin, beta ADD2 3

Adenosine deaminase ADA 1

Adenosine receptor AI ADORAL 5

Adenosine receptor A2A ADORA2A 5

Adenosine receptor A2B ADORA2B 5

Adenosine receptor A3 ADORA3 5

Adenylate cyclase I ADCYI

Adenylate cyclase 2. ADGY2

Adenylate cyclase 3 ADCY3

Adenylate cyclase 4 ADCY4

Adenylate cyclase 5 ADCY5

Adenylate cyclase 6 ADCY6

Adenylate cyclase 7 ADCY7

Adenylate cyclase 8 ADCY8

Adenylate cyclase 9 ADCY9

Adenylate kinase AK1

Adrenergic receptor, alphal ADRAI 5

Adrenergic receptor, alpha2 ADRA2 5

Adrenergic receptor, betal ADRB1 5

Adrenergic receptor, beta2 ADRB2 5

Adrenergic receptor, beta3 ADRB3 5 AdrenocorticotropMc hormone (ACTH) receptor ACTHR 6

Alanine aminotransferase 2

Alamne-glyoxylate aminotransferase AGXT 1

Albumin, ALB ALB 2

Alcohol dehydrogenase 1 ADHL 1

Alcohol dehydrogenase 2 ADH2 1

Alcohol dehydrogenase 3 ADH3 F=

Alcohol dehydrogenase 5 ADH5 1

Alcohol dehydrogenase 6 ADH6 1

Alcohol dehydrogenase 7 ADH7 1

Aidehyde dehydrogenase 1 ALDHL 1

Aidehyde dehydrogenase 10 ALDH10 1

Aidehyde dehydrogenase 2 ALDH2 1

Aldehyde dehydrogenase 5 ALDH5 1

Aldehyde dehydrogenase 6 ALDH6 1

Aldehyde dehydrogenase 7 ALDH7 1

Aldolase A ALDOA 1

Aidolase B ALDOB 1

Aldolase C ALDOC 1

Aldosterone receptor MLR 6

Alpha 1 acid glycoprotein G; AGP 2

Alpha 2 macroglobulin A2M 4 alphal-antitrypsin Pi 1 alpha2-antiplasmin PLI 1 a pha-actinin 2 ACTN2 6 alpha-actitiin 3 ACTN3 6 alpha-Galactosidase A GLA 1 alpha-L-Iduromdase IDUA 1

Aminopeptidase P XPNPEP2 1

Amphiregulin AREG 6

Amylo- 1 ,6-glucosidase AGL 1

Angiopoietin 1 ANGPT1 6

Angiopoietin 2 ANGPT2 6

Angiotensin converting enzyme ACE,DCPL 1

Angiotensm receptor 1 AGTRI 2

Angiotensi 'n receptor 2 AGTR2 2

Angiotensinogen AGT 1

Ankyrin 1 ANKI 3

Ankyrin 2 ANK2 3

Ankyrin 3 ANK3 3

Annexin i ANXI 4

Antidiuretic hormone receptor ADHR 2

AntitMombin III AT3 1

Apolipoprotein (a) LPA 2

Apolipoprotein A 4 APOA4 2

Apolipoprotein A I APOAI 2

Apolipoprotein A ll APOA2 2 Apolipoprotein B APOB 2

Apolipoprotein Cl APOCI 2

Apolipoprotein C2 APOC2 2

Apolipoprotein C3 APOC3 2

Apolipoprotein D APOD 2

Apolipoprotein E APOE 2

Apolipoprotein H APOH 2

Aquaporin I AQPL 2

Aquaporin 2 AQP2 2

Argimne vasopressin AVP 5

Argimne vasopressin receptor 1 A AVPRLA 5

Argimne vasopressin receptor 1B AVPRLB 5

Argmine vasopressin receptor 2 AVPR2 5

Arginosuccinate lyase ASL 1

Arylsuffatase B ARSB 1

Aspartylglucosaminidase AGA 1

Ataxia telangiectasia gene, AT ATM 6

ATP/ADP transiocase 1

ATP-binding cassette transporter 7 ABC7 4

Atriai natriuretic peptide ANP 6

Atriai natriuretic peptide receptor A NPRL 6

Atria natriuretic peptide receptor B NPR2 6

Atriai natriuretic peptide@ receptor C NPR3 6

Autoimmune regulator, AIRE AIRE 4

BCL2-related protein AI BCL2AI 6 beta 2 microglob@ulin B2M beta-endorpMn receptor N

Bile acid coenzyme A: amino acid N- BAAT 1 acyltiansferase

Bile salt export pump BSEP, PFIC2 2

Bile salt-stimulated lipase CEL 1

Bilirubin UDP-glucuronosyltransferase 1

Bloom syndrome protein BLM 6

Bradykinin receptor BI

Bradykimn receptor B2

Butyrylcholinesterase BCHE 1

Ca(2+) transporting ATPase, fast twitch ATP2AI 2

Ca(2+) transporting ATPase, slow twitch ATP2A2 2

Cadherin E CDHL 6

Cadherin EP 6

Cadherin N CDH2 6

Cadherin P CDH3 6

Calbindin I CALB1 6

Calbindin D9K CALB3 6

Calcineurin AI CALNAL 4

Calcineurin A2 CALNA2

Calcineurin A3 CALNA3 Calcineurin B

Calcium Channel, voltage-dependent, alpha CACNALF 5

1 F subumt

Calcium Channel, voltage-dependent, Alpha- CACNAIB 5

1B (CACNL1A5)

Calcium Channel, voltage-dependent, Alpha- 1 c CACNAL C 5

Calcium Channel, voltage-dependent, Alpha- 1 D CACNALD 5

Calcium Channel, voltage-dependent, Alpha- CACNALE 5

1E (CACNLIA6)

Calcium Channel, voltage-dependent, Alpha- CACNA2 5

2/delta

Calcium Channel, voltage-dependent, Beta 1 CACNBI 5

Calcium Channel, voltage-dependent, Beta 3 CACNB3 5

Calcium Channel, voltage-dependent, L type, CACNAL S 5 alpha IS subumt

Calcium Channel, voltage-dependent, CACNG2 5

Neuronal, Gamma

Calcium Channel, voltage-dependent, P/Q CACNALA 5 type, alpha 1 A subunit

Calcium Channel, voltage-dependent, T-type 5

Calmodulm I CALMI 6

Calmodutin 2 CALM2 6

Calmodulin 3 CALM3 6

Cahnodulin-dependant protein kinase 11 CAMK2A 6

Calpain CAPNCAPN3 1

Calretimn CALB2 5

Carbomc anhydrase 3 CA3 1

Carbomc anhydrase 4 CA4 1

Carbomc anhydrase, alpha CA1 1

Carbomc anhydrase, beta CA2 1

Carboxypeptidase CPN 1

Cardiac-specific homeobox, CSX CSX 6

Camitine acylcarmtine translocase CACT 1

Camitine transporter protein CDSP,SCD 2

Cartilage-hair hypoplasia gene CHH 5

Catechol-O-methyltransferase COMT 1

Caveolin 3 CAV3 1

CD1 CDI

CD4 CD4

Cdc 25 phosphatase 6

Cell adhesion molecule, intercellular, ICAM ICAMI 6

Cell adhesion molecule, leukocyte- LECAM1 6 endotheiial, LECAM (CD62)

Cell adhesion molecule, liver, LCAM LCAM 6

Cell adhesion molecule, neural, NCAM1 NCAM1 6

Cell adhesion molecule, neural, NCAM2 NCAM2 6

Cell adhesion molecule, platelet-endothelial, PECAM1 6 PECAM

Cell adhesion molecule, vascular, VCAM VCAM1 6

Cellubrevin CEB 5

Ceroid lipofuscinosis neuronal 3 CLN3 5

Ceruloplasmin precursor CP 1

Chemokine receptor CCR2 CCR2

Chemokine receptor CCR3 CCR3

Chemokine receptor CCR5 CCR5

Chemokine receptor CXCRI CXCRI

Chemokine receptor CXCR2 CXCR2

Chemokine receptor CXCR4 CXCR4

CMoride Channel KB CLCNKB 3

Cholestasis, progressive familial intiahepatic FICI 6

1 gene

Cholesterol ester transfer protein CETP 2

Choline acetyltransferase CHAT 1

Chymase CHYI

Clathrin 2

Cockayne syndrome gene, CKNI CKNI 6

Collagen I alpha 1 COLIAL 3

Collagen I alpha 2 COLIA2 3

Collagen 11 alpha 1 COL2AI 3

Collagen III alpha 1 COL3A1 3

Collagen IV alpha 1 COL4AI 3

Collagen IV alpha 2 COL4A2 3

Collagen IV alpha 3 COL4A3 3

Co lagen IV alpha 4 COL4A4 3

Collagen IV alpha 5 COL4A5 3

Collagen IV alpha 6 COL4A6 3

Collagen IX alpha 2 COL9A2, EDM2 3

Collagen IX alpha 3 COL9A3 3

Collagen receptor COLR 3

Collagen V alpha 1 COL5AI 3

Collagen V alpha 2 COL5A2 3

Collagen VI alpha 1 COL6A1 3

Collagen VI alpha 2 COL6A2 3

Collagen VI alpha 3 COL6A3 3

Collagen VII alpha 1 COL7A1 3

Collagen X alpha I COL1OA1 3

Collagen X alpha 1 COLI 1A1 3

Collagen Xi alpha 2 COLL IA2 3

Collagen XVII alpha l COL17AI 3

Collagemc-like tail subumt of asymmetric COLQ 1 acetylcholinesterase

Colony-stimulating factor 2 beta receptor CSF2RB 6

Colony-stimulating factor 3 CSF3 6

Colony-stimulating factor 3 receptor CSF3R 6 Corticosteroid bmding globulin CBG 5

Cortico-sterold bmding protein 2

CorticotropMn-releasing hormone CRH 2

CorticotropMn-releasing hormone receptor CRHR1 2

Creb binding protein CREBBP 6

Cu2+ transporting ATPase alpha polypeptide ATP7A

Cu2+ transporting ATPase beta polypeptide ATP7B

Cubilin CUBN 2

Cyclic AMP-dependent protein kinase PKA

Cyclin-dependent kinase 2 CDK2 6

Cyclin-dependent kinase inMbitor IC (P57, KIP2) CDKNIC 6

Cyclooxygenase I coxi

Cyclooxygenase 2 COX2

CYPL 1A1 CYP11A1

CYPL 1 Bl CYP11B1

CYPI 1 B2 CYP11B2

CYP17 CYP17

CYP19 cypig

CYPIAI CYPIAI

CYP1A2 CYPIA2

CYPIBL CYPIBI

CYP21 CYP21

CYP24 CYP24

CYP27 CYP27

CYP27BI PDDR

CYP2AI CYP2AI

CYP2A13 CYP2A1 3

CYP2A3 CYP2A3

CYP2A6V2 CYP2A6V2

CYP2A7 CYP2A7

CYP2B6 CYP2B6

CYP2C18 CYP2C18 F-

CYP2CI9 CYP2C19

CYP2C8 CYP2C8

CYP2C9 CYP2C9

CYP2E1 CYP2E1

CYP2F1 CYP2FI

CYP2J2 CYP2J2

CYP3A3 CYP3A3

CYP3A4 CYP3A4

CYP3A5 CYP3A5

CYP3A7 CYP3A7

CYP4AI1 CYP4AU

CYP4B1 CYP4BI

CYP4F2 CYP4F2

CYP4F3 CYP4F3

CYP51 CYP51 CYP5AI CYP5A1

CYP7A CYP7A

CYP8 CYP8

CystatMonase CTH

CystatMone beta synthase CBS

Cytidme deaminase CDA

Cytidine-5-prime-triphosphate synthetase CTPS

CytocMome a 1

CytocMome b-5 CYB5 1

CytocMome c 1

CytocMome c oxidase, MTCO 1

DAX1 nuclear receptor DAX1 4

Delta aminolevulinate dehydratase NLND 1

Delta(4)-3 -oxosteroid 5-beta-reductase 1

Delta-7-dehydrocholesterol reductase DHCR7 1

Deoxycorticosterone (DOC) receptor 1

Desmin DES 3

Dihydrodiol dehydrogenase 1 DDHL 1

Dihydrofolate reductase DHFR 1

Dihydrolipoyl dehydrogenase 1

Dihydrolipoyl dehydrogenase 2 PDHA 1

Dihydrolipoyl tiansacetylase PDHA 1

DM-Kinase DMPK 1

DOPA decarboxylase DDC 1

Dopamme beta hydroxylase DBH 1

Dopamine receptors DI DRD1 5

Dopamine receptors D2 DRD2 5

Dopamine receptors D3 DRD3 5

Dopamine receptors D4 DRD4 5

Dopamine receptors D5 DRD5 5

Duffy blood group FY 2

Dynamin DΝMI 6

DystropMa myotomca DM, DMPK 1

DystropMa myotomca, atypical DM2 1

DystropMn DMD 3

Elastin ELΝ 3

Emerin EMD 2

Endocardial fibroelastosis 2 gene EFE2 3

Endoglin ENG 3

Endometrial bleeding-associated factor EBAF 6

Endothelin 1 EDN1 5

Endothelin 2 EDN2 5

Endothelin 3 EDN3 5

Endothelin converting enzyme ECE1 5

Endothelin receptor type A EDNRA 5

Endothelin receptor type B EDNRB 5

Enolase EN01 1 Enoyl CoA isomerase 1

Ephrin receptor tyrosine kmase A EPHA 6

Ephrin receptor tyrosine kinase B EPHB 6

Epidermal growth factor EGF 6

Epidermal growth factor receptor EGFR 6

ErytMocyte membrane protein band 4.1 EPB41 3

ErytMocyte membrane protem band 4.2 EPB42 3

ErytMocyte membrane protem band 7.2 EPB72 3

ErytMoid kruppel-like factor EKLF 6

Erytiiropoietin EPO

ErytMopoietin receptor EPOR

Estrogen receptor ESR 6

Faciogemtal dysplasia FGD1, FGDY 2

Factor 1 (No. one) FI

Factor B, properdin

Factor D

Factor H HFI

Factor I (letter 1) IF

Factor III F3

Factor IX F9

Factor V F5

Factor VI I F7 4

Factor VI II F8 4

Factor X F10 4

Factor Xi Fil 4

Factor XI I F12 4

Factor XIII A & B F13A & F13B 4

Fancom anemia, complementation group A FANCA 2

Fancom anemia, complementation group C FANCC 2

Fancom anemia, complementation group D FANCD 2

Fatty acid binding proteins FABPI 2

Fatty acid binding proteins FABP2 FABP2 2

Fatty acid binding proteins FABP3 2

Fatty acid binding proteins FABP4 2

Fatty acid binding proteins FABP5 2

Fatty acid binding proteins FABP6 2

Fc fragment of IgG, Mgh affimty IA, receptor for FCGRIA 6

Fc fragment of IgG, low affimty Ila, receptor FCGR2A 6 for (CD32)

Fc fragment of IgG, low affinity lila, receptor FCGR3A 6 for (CD 1 6)

Fibrillin 1 FBNI 6

Fibrillin 2 FBN2 6

Fibrinogen alpha FGA 3

Fibrinogen beta FGB 3

Fibrinogen gamma FGG 3

Fibroblast growth factor FGFI 6 Fibroblast growth factor receptor 1 FGFRI 6

Fibroblast growth factor receptor 2 FGFR2 6

Fibroblast growth factor receptor 3 FGFR3 6

Fibronectin precursor FNI 6

Flightless-11, DrosopMla homolog of FLII 6

Follicle stimulating hormone receptor FSHR,ODGl 6

Follicle stimulating hormone, FSH FSHB 6

Formiminotransferase 1

Fragile site, folic acid type, rare, fra(X) A FRAXA 5

Fucosidase alpha-L-2 1

Fucosyltransferase 2 FUT2 2

Fucosyltransferase 3 FUT3 2

Fucosyltransferase 6 FUT6 2

Fukuyama type congemtal muscular dystiophy FCMD 6

GABA receptor, alpha 1 GABRAL 5

GABA receptor, alpha 2 GABRA2 5

GABA receptor, alpha 3 GABRA3 5

GABA receptor, alpha 4 GABRA4 5

GABA receptor, alpha 5 GABRA5 5

GABA receptor, alpha 6 GABRA6 5

GABA receptor, beta I GABRB1 5

GABA receptor, beta 2 GABRB2 5

GABA receptor, beta 3 GABRB3 5

GABA receptor, gamma 1 GABRGI 5

GABA receptor, gamma 2 GABRG2 5

GABA receptor, gamma 3 GABRG3 5

GABA tiansaminase ABAT 1

Galactose 1 -phosphate uridyl-tiansferase GALT 1

Galactosyltransferase I GTI 6

Galactosyltransferase, alpha 1,3 GGTAL 6

Galactosyltransferase, beta 3 B3GALT 6

Ga amn GAL 5

Galamn receptor GALNRI 5

Gamma-glutamyl carboxylase GGCX 2

Gap junction protein alpha I GJAL 2

Gap junction protein beta I GJBL 2

Gap junction protein beta 2 GJB2 2

Glucocorticoid receptor GRL 6

Glucosaminyl (N-acetyl) transferase 2, 1- GCNT2 1 brancMng enzyme

Glucosidase, acid alpha GAA 1

Glucosidase, acid beta GBA 1

Glutamate decarboxylase, GAD GAD1 1

Glutamate receptor 1 GLURI 5

Glutamate receptor 2 GLUR2 5

Glutamate receptor 3 GLUR3 5

Glutamate receptor 4 GLUR4 5 Glutamate receptor 5 GLUR5 5

Glutamate receptor 6 GLUR6 5

Glutamate receptor 7 GLUR7 5

Glutamate receptor, ionotropic, NMDA 1 NMDAR1 5

Glutamate receptor, ionotropic, NMDA 2A NMDAR2A 5

Glutamate receptor, ionotropic, NMDA 2B NMDAR2B 5

Glutamate receptor, ionotropic, NMDA 2C NMDAR2C 5

Glutamate receptor, ionotropic, NMDA 2D NMDAR2D 5

Glutamate-cysteine ligase GLCLC

Glutaryi-CoA dehydrogenase GCDH

GlutatMone GSH

GlutatMone peroxidase, GPXI GPXL

GlutatMone reductase, GSR GSR

GlutatMone S-transferase, GSTZI GSTZI

Glyceraldehyde-3 -phosphate GAPDH dehydrogenase, GAPDH

Glycerol kinase GK

Glycinamide ribonucleotide (GAR) tiansformylase GART

Glycophorin A GYPA 3

Glycophorin B GYPB 3

Glycophorin C GYPC 3

Glycosyltransferases, ABO blood group ABO 1

Growth arrest-specific homeobox GAX 6

Guamne nucleotide-binding protein, alpha GNAOI 5 activating activity polypeptide, GNAO

Guamne nucleotide-binding protein, alpha GNA11 5 mMbiting activity polypeptide 1, GNAII

Guamne nucleotide-binding protein, alpha GNA 2 5 inMbiting activity polypeptide 2, GNA 12

Guamne nucleotide-binding protein, alpha GNA13 5 inMbiting activity polypeptide 3, GNA13

Guamne nucleotide-binding protein, alpha GNAS1 5 stimulating activity polypeptide, GNAS1

Guamne nucleotide-binding protein, alpha GNAS2 5 stimulating activity polypeptide, GNAS2

Guamne nucleotide-binding protein, alpha GNAS3 5 stimulating activity polypeptide, GNAS3

Guamne nucleotide-binding protein, alpha GNAS4 5 stimulating activity polypeptide, GNAS4

Guanine nucleotide-bmding protem, beta GNB3 5 polypeptide 3

Guanine nucleotide-binding protem, gamma GNG5 5 polypeptide 5

Guamne nucleotide-binding protein, q GNAQ 5 polypeptide

Guanylyl cyclase 1

H(+), K(+) - ATPase ATP4B 5 Haemoglobm alpha I HBAL 2

Haemoglobin alpha 2 HBA2 2

Haemoglobin beta HBB 2

Haemoglobin delta HBD 2

Haemoglobin epsilon 2

Haemoglobin gamma A HBGL 2

Haemoglobm gamma 8 HBG2 2

Haemoglobm gamma G HBGG 2

Haptoglobin, alpha 1 HPAI

Haptoglobin, alpha 2 HPA2

Haptoglobin, beta HPB

Heat shock protein, HSP60

Heat shock protein, HSP70

Heat shock protein, HSP90

Heat shock protein, HSPAI

Heat shock protein, HSPA2

HemocMomatosis HFE 2

Hemopexin HPX 4

Heparan sulfamidase 1

Heparin binding epidermal growth factor HBEGF 6

Heparin Cofactor 11 HCF2 4

Hepatic lipase LIPC 1

Hermansky-pudiak syndrome gene HPS 2

Hexokinase 1 HKI 1

Hexosamimdase A HEXNTSD 1

Hexosamimdase B HEXB 1

Histidine-rich glycoprotein HRG 2

HLA-B associated transcript 1 BATI 4

HLH transcription factor HAND1 HAND1 6

HLH transcription factor HAND2 HAND2 6

HMG-COA lyase HMGCL 1

HMG-COA reductase HMGCR 1

HMG-COA synthase HMGCS2 1

Homeobox (HOX) gene AI 3 HOXA13 6

Homeobox HB24 HLXL 6

Hormone-sensitive lipase HSL 1

Human choriomc gonadtiophin, hCG CG 6

Human placental lactogen CSHI 6

Hypox_mtMne-guamne HPRT 1 phosphoribosyltransferase, HGPRT

Hypoxia inducible factor I HiFlA 1

Hypoxia mducible factor 2 1

IC7 A and B 4

Iduronate 2 sulphatase IDS 1

Indian hedgehog, ihh IHH 6

Mosine triphosphatase ITPA 1

Inositol 1,4,5-triphosphate receptor 1 ITPRL 6 Inositol 1,4,5-triphosphate receptor 3 ITPR3 6

Inositol monophosphatase IMPAL 5

Inositol polyphosphate 1 -phosphatase INPPI 5

Insulin INS 6

Insulin receptor INSR 6

Insulin receptor Substrates IRS1 6

Insulin-like growth factor 1 IGF1 6

Insulin-like growth factor 1 receptor IGF1 R 6

Insulin-like growth factor 2 IGF2 6

Insulin-like growth factor 2 receptor IGF2R 6

Integrin beta 1 ITGBL 6

Integrin beta 2 ITGB2 6

Integrin beta 3 ITGB3 6

Integrin beta 4 ITGB4 6

Integrin beta 5 ITGB5 6

Integrin beta 6 ITGB6 6

Integrin beta 7 ITGB7 6

Integrin, alpha 1 ITGAL 6

Integrin, alpha 2 ITGA2 6

Integrin, alpha 3 ITGA3 6

Integrin, alpha 4 ITGA4 6

Integrin, alpha 5 ITGA5 6

Integrin, alpha 6 ITGA6 6

Integrin, alpha 7 ITGA7 6

Integrin, alpha 8 ITGA8 6

Integrin, alpha 9 ITGA9 6

Integrin, alpha M ITGAM 6

Integrin, alpha X ITGAX 6

Inter-alpha-trypsin inMbitor, IATI 1

Intercellular adhesion molecule 1 ICAMI

Intercellular adhesion molecule 2 ICAM2

Intercellular adhesion molecule 3 ICAM3

Interferon alpha IFNAI

Interferon beta IFNB

Interferon gamma IFNG

Interferon gamma receptor 1 IFNGRL

Interferon gamma receptor 2 IFNGR2

Interleukin(IL) 1 receptor IL1 R

Interieukin(IL) 1, alpha ILLA

Mterieukin(IL) 1, beta ILLB lnterieuldn(IL) 10 ILIO

Mterleukin(IL) 10 receptor ILIOR

Intedeuldn(IL) 1 1 IL1 1

Interieukin(IL) 1 1 receptor ILIIR lntedeukin(IL) 12 IL12

Intedeukin(IL) 12 receptor, beta 1 IL12RB1 4

Mtedeuldn(IL) 13 IL13 4 Interfeukin L) 13 receptor IL13R 4

Intedeuldn(IL) 2 IL2 4

Mterleukin(IL) 2 receptor, alpha IL2RA 4

Mterleukin(IL) 2 receptor, gamma IL2RG 4

Mterleuldn(IL) 3 IL3

Mterleukin(IL) 3 receptor IL3R

Interieukin(IL) 4 IL4

Interieukin(IL) 4 receptor IL4R

Mterieukin(IL) 5 IL5

Interleukin(IL) 5 receptor IL5R lntedeukin(IL) 6 IL6 lnterieukin(IL) 6 receptor IL6R

Interleukin(IL) 7 IL7

Mterleukin(IL) 7 receptor IL7R

Interieukin(IL) 8 IL8

Intedeukin(IL) 8 receptor IL8R 4 lnterfeukin(IL) 9 IL9 4

Mterleukin(IL) 9 receptor IL9R

Interieukin(IL) receptor antagomst 1 1L1RN, ILLRA

IP3 kinase 1

Isovaleric acid CoA dehydrogenase IVD 1

Kallikrein 3 KAK3 4

Kell blood group precursor XK, KEL 2

Ketohexokinase KHK 1

Kimnogen, High molecular weight KNG 4

Kynureninease 1

Lactate dehydrogenase, A LDHA 1

Lactate dehydrogenase, B LDHB 1

Lamin A/C LMNA 6

Lamimn 5, alpha 3 LAMA3 6

Lamimn 5, beta 3 LAMB3 6

Lammin 5, gamma 2 LAMC2 6

Lamimn M LAMM 6

Lamimn receptor 1 LAMRI 6

Latent transforming growth factor-beta LTBP2 6 binding protein 2

LecitMn-cholesterol acyltiansferase LCAT

Lectin, mannose-binding 1 LMANI

Lectin, mannose-binding 2 MBL2

Leptin LEP 6

Leptin receptor LEPR 6

Leukocyte-specific transcript 1 LST-1 4

Leukotriene A4 synthase LTA4S 1

Leukotriene B4 receptor 4

Leukotriene B4 synthase LTB4S 1

Leukotriene C4 synthase LTC4S 1

LIM homeobox protein I LHXL 6 Lipocortin I ANX4 4

Lipoprotein lipase LPL 4

Lipoprotein receptor, Low Density LDLR 2

Lipoprotem, High Density HDLDTI 2

Lipoprotein, Very Low Density VLDLR 2

Lipoprotein-associated coagulation factor LACI 4

Lipoxygenase 1

Lipoxygenase 12 (platelets) LOG12 4

Long QT-type 2 potassium Channels LQT2, KCNH2 2

Low density lipoprotein receptor-related LRP 2 protein precursor

Lymphoid enhancer-bmding factor LEF-1 6

Lysosomat acid lipase LIPA 1

Macrophage inflammatory protem-2 MIP2 4

MAD (mothers against decapentaplegic, MADH4 6

DrosopMla) homologue 4

MADS box transcription-enhancer factor 2A MEF2A 6

MADS box transcription-enhancer factor 2B MEF2B 6

Mannosidase, alpha B lysosomal MANB 1

Matrix Gla protein MGP 6

Matrix metalloproteinase I mmpl

Matrix metalloproteinase IO mmplo

Matrix metalloproteinase 1 1 mmpl 1

Matrix metalloproteinase 12 MMP12

Matrix metalloproteinase 13 MMP13

M trix metalloproteinase 4 MMP14

Matrix metalloproteinase 15 MMP15

Matrix metalloproteinase 16 MMP16

Matrix metalloproteinase 17 MMP17

Matrix metalloproteinase 18 MMP18

Matrix metalloprotemase 19 m P19

Matrix metalloproteinase 2 MMP2

Matrix metalloproteinase 3 MMP3, STMY1

Matrix metalloproteinase 4 MMP4

Matrix metalloproteinase 5 MMP5

Matrix metalloproteinase 6 MMP6

Matrix metalloprotemase 7 MMP7

Matrix metalloproteinase 8 MMP8

Matrix metalloprotemase 9 MMP9

Melanocort 'in 2 receptor MC2R

Melanocortin 4 receptor MC4R

MetMonine synthase MTR

MetMomne synthase reductase MTRR

Methylmalonyl-CoA mutase MUT

Mevalonate kinase MVK

MHC Class 1: A

MHC Class 1: B MHC Class 1: C

MHC Class 1: LMP-2, LMP-7

MHC Class l: Tapl ABCR,TAP1

MHC Class π: DP HLA-DPBI

MHC Class 11: DQ

MHC Class 11: DR

MHC Class II: Tap2 TAP2,PSF2

MHC Class 11: Complementation group A MHC2TA

MHC Class lkComplementation group B rfxank

MHC Class ILComplementation group C RFX5

MHC Class lkComplementation group D RFXAP

Microsomal triglyceride transfer protein MTP 2

Mismatch repair gene, PMSL2 PMS2 6

Mitochondrial trifunctional protein, alpha subumt HADHA

Mitochondrial trifunctional protein, beta subumt HADHB

Molybdenum cofactor synthesis 1 moesi

Mo ybdenum cofactor synthesis 2 MOCS2

Monoamine oxidase A MAOA

Monoamine oxidase B MAOB

Monocyte chemoaftractant protein 1 mcpl 4

Mucolipidoses GNPTA 1

Mulibrey namsm MUL 2

Muscarimc receptor, Ml CHRM1 5

Musca nie receptor, M2 CHRM2 5

Muscarimc receptor, M3 CHRM3 5

Muscarimc receptor, M4 CHRM4 5

Muscarimc receptor, M5 CHRM5 5

MutS homolog 3 MSH3 6

Myoglobin 2

Myosin, cardiac MYH7 3

Myosin, light chain 2 MYL2 3

Myosin, light chain 3 MYL3 3

Myosin-binding protein C, cardiac MYBPC3 3

Myotubularin MTM1 3

Na+, K+ ATPase, alpha ATPIAL 6

Na+, K+ ATPase, beta 1 ATPIBL 6

Na+, K+ ATPase, beta 2 ATPIB2 6

Na+, K+ ATPase, beta 3 ATP1B3 6

Na+/H+ exchanger 1 NHEL 2

Na+/H+ exchanger 2 NHE2 2

Na+ H+ exchanger 3 NHE3 2

Na+/H+ exchanger 4 NHE4 2

Na+/H+ exchanger 5 NHE5 2

N-acetylglucosamine-6-sulfatase GNS 1

NADPH oxidase 4 reductase

NB6 Nebulin NEB 3

NepMonophtMsis 1 NPHP1 2

Neurammidase sialidase NEU 2

Neuregulin HGL 6

Neurite inMbitory protein 5

Neuroendocrine convertase 1 NEC1, PCSK1 1

Neurokimn A NKNA 5

Neurokimn B NKNB 5

Neuropeptide Y NPY 5

Neuropeptide Y receptor Yi NPYIR 5

Neuropeptide Y receptor Y2 NPY2R 5

NeutiopMl cystolic factor 1 NCF1

NeutiopMl cystolic factor 2 NCF2

Niemann-Pick disease protem NPCL 2

Nitric oxide synthase 1, NOSl NOSl 1

Nitric oxide synthase 2, NOS2 NOS2 1

Nitric oxide synthase 3, NOS3 NOS3 1

Notch ligand -jagged 1 JAG 1, AG S 6

Nuclear factor 1-kappa-B-like gene IKBL 4

Oncogene sis PDGFB 6

Oncostatin M osm 6

Oncostatin M receptor OSMR 6

Osteonectin ON 6

Osteopontin OPN 6

Osteoprotegedn OPG 6

Pancreatic lipase PNLIP 1

Pancreatic lipase related protein 1 PLRPI 1

Pancreatic lipase related protem 2 PLRP2 1

Paraoxonase PONI PONI 1

Paraoxonase PON2 PON2 1

Paraoxonase PON3 1

Parvalbumin PVALB 6

Patched (DrosopMla) homolog, PTCH PTCH 6

PCNA (proliferating cell nuclear antigen) 1

Pepsinogen 1

Peroxidase, salivary SAPX 1

Peroxisomal membrane protem 1 PXMPI 3

Peroxisomal membrane protein 3 PXMP3 2

Peroxisome biogenesis factor I PEXI 2

Peroxisome biogenesis factor 1 9 PEX19 2

Peroxisome biogenesis factor 6 PEX6 2

Peroxisome biogenesis factor 7 PEX7 2

Peroxisome proliferative activated receptor, PPARA 2 alpha

Peroxisome proliferative activated receptor, PPARG 2 gamma

Peroxisome receptor 1 PXRI 2 P-glycoprotein 3 PGY3 2

Phosphatidylinositol glycan, class A PIGA 6

(paroxysmal noctumal hemoglobinuria)

Phosphatidylinositol transfer protein PITPN 6

Phosphofructokinase, muscle PFKM 1

Phosphoglucose isomerase GPI 1

Phospholipase A2, group IO PLA2GIO 4

Phospholipase A2, group 1 B PLA2G 1 B 4

Phospholipase A2, group 2A PLA2G2A 4

Phospholipase A2, group 2B PLA2G2B 4

Phospholipase A2, group 4A PLA2G4A 4

Phospholipase A2, group 4C PLA2G4C 4

Phospholipase A2, group 5 PLA2G5 4

Phospholipase A2, group 6 PLA2G6 4

Phospholipase C alpha 4

Phospholipase C beta 4

Phospholipase C delta PLCD1 4

Phospholipase C epsilon 4

Phospholipase C gamma PLCG 4

Phosphomannomutase-2 PMM2 2

Phosphoribosyl pyrophosphate synthetase PRPS1

Phosphorylase kinase, alpha 2 PHKA2

Phytanoyi-CoA hydroxylase PHYH

Plasminogen PLG

Plasminogen activator inMbitor I PAH

Plasminogen activator inMbitor 2 PA 2

Plasminogen activator receptor, Urokinase UPAR; PLAUR

Plasminogen activator, Tissue PLAT;TPA

Plasminogen activator, Urokinase UPA;PLAU

Platelet derived growth factor PDGF 6

Platelet derived growth factor receptor PDGFR 6

Platelet glutaminase GLS 2

Platelet glycoprotein I b, alpha GPI BA

Platelet glycoprotein I b, beta GPIBB

Platelet glycoprotein I b, gamma GPLBG

Platelet glycoprotein IX GP9

Platelet glycoprotein V GP5

Platelet monamine oxidase 2

Platelet-activating factor acetylhydrolase 1 B PAFAHlBlor 4

LISI

Platelet-activating factor acetylhydrolase 2 PAFAH2 4

Platelet-activating factor receptor PAFR 4

Poly (ADP-ribose) synthetase PARS F

Polycystic kidney and hepatic disease 1 PKHDL 2

Polycystin I PKDL 2

Polycystin 2 PKD2 2

Potassium inwardly-rectifymg Channel Jl KCNJL 5 Potassium inwardly-rectifong Channel Jl 1 KCNJ I 1 5

Potassium voltage-gated Channel AI KCNAL 5

Potassium voltage-gated Channel El KCNEI 5

Potassium voltage-gated Channel Ql KCNQl 5

Potassium voltage-gated Channel Q2 KCNQ2 5

Potassium voltage-gated Channel Q3 KCNQ3 5

POU domain, class 1, transcription factor 1 (Piti) POUIFI 6

Prekallikrein

Procollagen N-protease 1 receptor)

Pro-melanin-concentratmg hormone PMCH 6

Proopiomelanocortin POMC 5

Prostagiandin (PG) D synthase, PGDS 1 hematopoietic

Prostagiandin E2 receptor

Prostaglandin-endoperoxidase synthase 2 PTGS2 6

Protease inMbitor 1 2

Protease nexin 2 PN2 1

Protective protein for beta-galactosidase PPGB 1

Protein C PROC

Protein C inMbitor PCI

Protein S PROS1

Protiirombin precursor F2

Protoporphyrinogen oxidase PPOX 1

Purine nucleoside phosphorylase NP 1

Purinergic receptor P1A1 5

Purinergic receptor PIA2 5

Purinergic receptor PIA3 5

Purinergic receptor P2X, 1 P2RX1 5

Purinergic receptor P2X, 2 P2RX2 5

Purinergic receptor P2X, 3 P2RX3 5

Purinergic receptor P2X, 4 P2RX4 5

Purinergic receptor P2X, 5 P2RX5 5

Purinergic receptor P2X, 6 P12RX6 5

Purinergic receptor P2X, 7 P2RX7 5

Purinergic receptor P2 Y, 1 P2RYI 5

Purinergic receptor P2Y, 1 1 P2RY1 1 5

Purinergic receptor P2 Y, 2 P2RY2 5

Pyruvate carboxylase PC 1

Pyruvate decarboxylase PDHA 1

Pyruvate kinase PKLR 1

Radixin RDX 3

Remn REN 1

Replication factor C RFC2 1

Retinoic acid receptor, alpha RARA 6

Retinoic acid receptor, beta RARB 6

Retinoic acid receptor, gamma RARG 6 Retinoid X receptor, alpha RXRA 6

Retinoid X receptor, beta RXRB 6

Retinoid X receptor, gamma RXRG 6

Rhesus blood group, CcEe antigens RHCE 2

Rhesus blood group, D antigen RHD 2

Rhesus blood group-associlated glycoprotem RHAG 2

Ribosomal protein S19 RPS19 1

RIGUI RIGUI 6

SIOO calcium-bindmg protein AI SIOOAI 5

S 1 00 calcium-bmdmg protem A2 S I 0OA2 5

SI OO calcium-binding protein A3 S 1 0OA3 5

SIOO calcium-binding protein A7 S 1 0OA7 5

SI OO calcium-binding protein A8 S 10OA8 5

SIOO calcium-binding protein B SIOOB 5

SIOO calcium-bmding protem P sloop 5

SA homolog SAH 6

SAP (SLAM-associated protein) SH2D1A 4

Secretase, alpha 5

Secretase, beta 5

Secretase, gamma 5

Selectin E SELE 5

Selectin L SELL 5

Selectin P SELP 5

Serotomn receptor, 5HTIA HTRIA 5

Serotomn receptor, 5HT1B HTRI B 5

Serotomn receptor, 5HTIC HTRIC 5

Serotomn receptor, 5HT1 D HTRID 5

Serotonin receptor, 5HTI E HTRL E 5

Serotomn receptor, 5HT1 F HTRL F 5

Serotonin receptor, 5HT2A HTR2A 5

Serotomn receptor, 5HT2B HTR2B 5

Serotomn receptor, 5HT2C HTR2C 5

Serotomn receptor, 5HT3 HTR3 5

Serotomn receptor, 5HT4 HTR4 5

Serotomn receptor, 5HT5 HTR5 5

Serotomn receptor, 5HT6 HTR6 5

Serotomn receptor, 5HT7 HTR7 5

Serum amyloid A SAA 2

Serum amyloid P SAP 2

Sjoegren (Sjogren) syndrome antigen AI SSAI 4

Sodium channel, non-voltage gated 1, alpha SCNNLA 5

Sodium Channel, non-voltage gated 1, beta SCNN1 B 5

Sodium channel, non-voltage gated 1, SCNNLG 5 gamma

Sodium channel, voltage gated, type IV, SCN4A 5 alpha polypeptide Sodium channel, voltage gated, type V, alpha SCN5A 5 polypeptide

Sodiumchannel,voltage-gated,typel,beta SCNLB 5 polypeptide

Solute carrier family 1 (glutamate SLCIAL 2 tiansporter), member 1

Solute carrier family 1 (glutamate SLC1A2 2 tiansporter), member 2

Solute carrier family 1 0 (sodium/bile acid SLC1OA1 2 cotransporter farnily),member 1

Solute carrier family IO (sodium/bile acid SLC1OA2 2 cotransporter family),member 2

Solute carrier family 12, member I SLC12A1 2

Solute carrier family 12, member 2 SLC12A2 2

So ute carrier family 12, member 3 SLCl 2 A3 2

Solute carrier family 2 (facilitated glucose SLC2AI 2 tiansporter), member I

Solute carrier family 2 (facilitated glucose SLC2A2 2 transporter), member 2

Solute carrier family 2 (facilitated glucose SLC2A3 2 transporter), member 3

Solute carrier family 2 (facilitated glucose SLC2A4 2 tiansporter), member 4

Solute carrier family 2 (facilitated glucose SLC2A5 2 tiansporter), member 5

Solute carder family 21 , member 2 SLC21A2 2

So ute carrier family 21 , member 3 SLC21 A3 2

Solute carrier family 22, member 5 SLC22A5 2

Solute carrier family 3 (facilitated glucose SLC3AI 2 transporter), member I

Solute carrier family 4 (amon exchanger), member 1 SLC4AI 2

Solute carrier family 4 (amon exchanger), member 2 SLC4A2 2

Solute carrier family 4 (amon exchanger), member 3 SLC4A3 2

Solute carrier family 5 (sodium/glucose SLC5A1 2 transporter), member I

Solute carrier family 5 (sodium/glucose SLC5A2 2 transporter), member 2

Solute carrier family 5 (sodium/glucose SLC5A5 2 transporter), member 5

Solute carrier family 5, member 3 SLC5A3 2

Solute carrier family 6 (GAMMA- SLC6A1 2

AMINOBUTYRIC ACID transporter), member 1

Solute carrier family 6 (neurotiansmifter SLC6A3 2 transporter, dopamine), member 3

Solute carrier family 6 (neurotiansmifter SLC6A2 2 transporter, noradrenaline), member 2 Solute carrier family 6 (neurotiansmifter SLC6A4 2 tiansporter, serotonin), member 4

Solute carrier family 8 (sodium/calcium SLC8A1 2 exchanger), member 1

Somc hedgehog, SHH SHH 6

So@cin SRI 2

Spectiin alpha SPTAI 3

Spectrin beta SPTB 3

Sphingomyelmase SMPD1 1

Stern cell factor SCF 6

Steroid 5 alpha reductase 1 SRD5A1 1

Steroid 5 alpha reductase 2 SRD5A2 1

Steroidogemc acute regulatory protein STAR 2

Sterol carrier protein 2 SCP2 2

Succinate dehydrogenase I SDHL 1

Succinate dehydrogenase 2 SDH2 1

Succinate tiiiokinase 1

Superoxide dismutase 1 SODI 1

Superoxide dismutase 3 SOD3 1

Surfeit I SURF1 6

Synapsin I a& b SYNI 5

Synapsin 2a & 2b SYN2 5

Synaptic vesicle amine transporter 8VAT 5

Synaptobrevin 1 SYBI 5

Synaptobrevin 2 SYB2 5

Synaptogyrin 5

Synaptophysin SYP 5

Synaptosomal-associated protein, 25KD SNAP25 5

Synaptotagmin I SyTi 5

Synaptotagmin 2 SYT2 5

Syntaxin I STxl 5

Talin TLN 6

T-BOX 1 TBXL 6

T-BOX 3 TBX3 6

TEK, tyrosine kinase, endothelial TEK 1

Terminal deoxynucleotidyltransferase TDT 4

Tetianectin TNA 2

TMolase, perioxisomal 1

TMopurine S-methyltransferase TPMT 1

TMombin receptor F2R

Tnrombomodulin THBD

TMombopoietin THPO 6

TMombospondin THBSI 6

TMomboxane A synthase 1 TBXASI

TMomboxane A2 TXA2

TMomboxane A2 receptor TBXA2R

Thy-I T-cell antigen THYI Thymic humoral factor

Thymopoietin TMPO 6

Thymosin 4

Thyroid hormone receptor, alpha THRA 6

Thyroid hormone receptor, beta THRB 6

TIE receptor tyrosine kinase TIE-1 6

Tip-associated protein TAP 4

Tissue inMbitor of metalloproteinase 1, TIMP1

TiMPl

Tissue inMbitor of metalloproteinase 2, TIMP2

TIMP2

Tissue inMbitor of metalloproteinase 3, TIMP3

TIMP3

Tissue inMbitor of metalloproteinase 4, T P4

TIMP4

Topoisomerase I

Torticolhs, keloids, cryptorcMdism and renal TKCR 6 dysplasia gene

Transcobalamin 2, TCN2 TCN2 2

Transcription factor 2, hepatic TCF2 6

Transferrin TF 6

Transferdn receptor TFRC 6

Transforming growth factor, beta 2 TGFB2 6

Transforming growth factor, beta mduced TGFBI 6

Transforming growth factor, beta receptor 2 TGFBR2 6

Transtocation in renal carcinoma on TRC8 6 cMomosome 8 gene

Transthyretin TTR 2

Triosephosphate isomerase TP11 1

Tropomyosin 1 alpha TPM1 3

Troponin C 3

Tropomn I TNN13 3

Tropomn T2, cardiac TNNT2 3

Tuberous sclerosis 1 TSC1 6

Tuberous sclerosis 2 TSC2 6

Tumour necrosis factor (TNF) receptor TRAFI associated. factor 1

Tumour necrosis factor (TNF) receptor TRAF2. associated factor 2

Tumour necrosis factor (TNF) receptor TRAF3 associated factor 3

Tumour necrosis factor (TNF) receptor TRAF4 associated factor 4

Tumour necrosis factor (TNF) receptor TRAF5 associated factor 5

Tumour necrosis factor (TNF) receptor TRAF6 associated factor 6 Tumour necrosis factor alpha TNFA

Tumour necrosis factor alpha receptor TNFAR

Tumour necrosis factor beta TNFB

Tumour necrosis factor beta receptor TNFBR

Tumour protein p53 TP53.P53 6

Tumour protein p63 TP63 6

Tyrosine hydroxylase TH 1

Ubiquitin 6

Ubiquitin B UBB 6

Ubiquitin C UBC 6

UDP-glucose pyrophosphorylase 1

UDP-glucuronosyltransferase 1 ugtld, UGTI 1

UDP-glucuronosyltransferase 2 UGT2 1

Uncoupling protem I 2

Uncoupting protein 3 UCP3 2

Undulin I COL14A1 3

Uridinediphosphate(UDP)-galactose-4- GALE 1 epimerase

Uroporphyrinogen III synthase UROS 1

Vacuolar proton pump, subumt 1 VPPI 5

Vacuolar proton pump, subumt 3 VPP3 5

Vascular endothelial growth factor VEGF 6

Vasoactive intestinal polypeptide VIP 5

Vasoactive intestinal polypeptide receptor VIPR 5

VasoinMbitory peptide 6

Vimentin vim 4

Vinculin 3

Vitamin D receptor VDR 6

Von Hippel-Lindau gene VHL 6

Von Willebrand factor VWF 2

Werner syndrome helicase WRN 6

Wiskoft-Aldrich syndrome protein WASP, THC 4

Wolf-Hirschhom syndrome candidate 1 gene WHSCI 6

Wolfram syndrome I gene WFS1 3

XantMne dehydrogenase XDH 1

Zinc finger protein 3 ZIC3 3,

Legende für die Spalte Proteinfunktion:

1 Enzym 2 Transport und Lagerung

3 Stniktur 4 Immumtät

5 Nervale Transmission 6 Wachstum und Differenzierung Tabelle 9

Fehlfunktion, Schädigung oder Erkrankung des Gastrointestinaltrakts

Liste der Gene HUGO Protein¬

Gensymbol funktion

1 lbeta hydroxysteroid dehydrogenase 2 HSD11B2

17beta hydroxysteroid dehydrogenase 1 HSD17B1

17beta hydroxysteroid dehydrogenase 3 HSD17B3

17beta hydroxysteroid dehydrogenase 4 HSD17B4

17beta hydroxysteroid oxidoreductase

2,3-Bisphosphoglycerate mutase BPGM

3 beta Hydroxysteroid dehydrogenase 2 HSD3B2

6-Phosphofructo-2-kinase ^• PFKFB1

Acetoacetyl 1-CoA-tMolase ACAT1

Acetoacetyl 2-CoA-tMolase ACAT2

Acetyl CoA carboxylase ACC

Acetyl CoA carboxylase alpha ACACA

Acetylcholine receptor, mcotmic, gamma CHRNG

Acetylcholinesterase ACHE

Acid phosphatase 2, lysosomal ACP2

Actin, alpha, cardiac ACTC 3

Actin, alpha, skeletal ACTAL 3

Actin, alpha, smooth, aortic ACTA2 3

Actin, beta ACTB 3

Actin, gamma 2 ACTG2 3

Acyl CoA dehydrogenase, long chain ACADL

Acyl CoA dehydrogenase, medium chain ACADM

Acyl CoA dehydrogenase, short chain ACADS

Acyl CoA dehydrogenase, very long chain ACADVL

Acyl CoA synthetase, long chain, 1 LACS1

Acyl CoA synthetase, long chain, 2 LACS2

Acyl CoA synthetase, long chain, 4 ACS4

Acyl malonyl condensing enzyme

Acyl-CoA tMoesterase

Adaptin, beta 3 A ADTB3A 2

Ademne phosphoribosyltransferase APRT 2

Adenomatous polyposis coli tumour supressor APC 6 f gröennpe

Adenosine receptor AI ADORA1 5

Adenosine receptor A2A ADORA2A 5

Adenosine receptor A2B ADORA2B 5

Adenosine receptor A3 ADORA3 5

Adenylate cyclase 1 ADCY1 1

Adenylate cyclase 2 ADCY2 1

Adenylate cyclase 3 ADCY3 1

Adenylate cyclase 4 ADCY4 1 Adenylate cyclase 5 ADCY5

Adenylate cyclase 6 ADCY6

Adenylate cyclase 7 ADCY7

Adenylate cyclase 8 ADCY8

Adenylate cyclase 9 ADCY9

Adrenergic receptor, alphal ADRA1 5

Adrenergic receptor, alpha2 ADRA2 5

Adrenergic receptor, betal ADRB1 5

Adrenergic receptor, beta2 ADRB2 5

Adrenergic receptor, beta3 ADRB3 5

AdrenocorticotropMc hormone (ACTH) ACTHR 6 receptor

Alamne aminotransferase 2

Alamne-glyoxylate aminotransferase AGXT 1

Albumin, ALB ALB 2

Alcohol dehydrogenase 1 ADH1

Alcohol dehydrogenase 2 ADH2

Alcohol dehydrogenase 3 ADH3

Alcohol dehydrogenase 4 ADH4

Alcohol dehydrogenase 5 ADH5

Alcohol dehydrogenase 6 ADH6

Alcohol dehydrogenase 7 ADH7

Aldehyde dehydrogenase 1 ALDH1

Aldehyde dehydrogenase 2 ALDH2

Aldehyde dehydrogenase 5 ALDH5

Aldehyde dehydrogenase 6 ALDH6

Aldehyde dehydrogenase 7 ALDH7

Aldolase A ALDOA

Aldolase B ALDOB

Aldolase C ALDOC

Aldose reductase 2

Aldosterone receptor MLR 6

Alkaline phosphatase, liver/bone/kidney ALPL 2

Alpha 2 macroglobulm A2M 4 alphal -Antitrypsin PI 1 alpha2-Antiplasmin PLI 1 alpha- Actinin 2 ACTN2 6 alpha- Actimn 3 ACTN3 6 alpha-Amylase 1 alpha-Dextrinase 1 alpha-Galactosidase A GLA 1 alpha-Ketoglutarate dehydrogenase 1 alpha-L-Iduronidase IDUA 1

Aminomethyltransferase AMT 1

Aminopeptidase P XPNPEP2 1

AmpMregulin AREG 6

Amylo- 1 ,6-glucosidase AGL 1 Angiopoietin 1 ANGPT1 6

Angiopoietin 2 ANGPT2 6

Angiotensin converting enzyme ACE, DCPI 1

Angiotensin receptor 1 AGTR1 2

Angiotensin receptor 2 AGTR2 2

Angiotensinogen AGT 1

Antidiuretic hormone receptor ADHR 2

AntitMombin III AT3 1

AP-2, alpha TFAP2A 6

AP-2, beta TFAP2B 6

AP-2, gamma TFAP2C 6

Apolipoprotein A I APOA1 2

Apolipoprotein A II APOA2 2

Apolipoprotein B APOB 2

Apolipoprotein Cl APOC1 2

Apolipoprotem C2 APOC2 2

Apolipoprotein C3 APOC3 2

Apolipoprotein D APOD 2

Apolipoprotein E APOE 2

Apolipoprotein H APOH 2

Aquaporin 1 AQP1 2

Aquaporin 2 AQP2 2

Argimne vasopressin AVP 5

Argimne vasopressin receptor 1 A AVPR1A 5

Argimne vasopressin receptor 1B AVPR1B 5

Arginine vasopressm receptor 2 AVPR2 5

Arginosuccinate lyase ASL 1

Arginosuccinate synthetase ASS 1

Aryi hydrocarbon receptor nuclear translocator ARNT 2

Arylsulfatase A ARSA 1

Arylsulfatase B ARSB 1

Aspartate transaminase 2

Aspartylglucosamimdase AGA 1

Ataxia telangiectasia gene, AT ATM 6

ATP/ADP translocase 1

Atriai natriuretic peptide ANP 6

Atiial natiiuretic peptide receptor A NPR1 6

Atiial natiiuretic peptide receptor B NPR2 6

Atriai natriuretic peptide receptor C NPR3 6

Autoimmune regulator, AIRE AIRE 4

Azoospermia factor 1 AZF1 6 beta 2 Microglobulin B2M 4 beta-Galactosidase GLB1 1 beta-Glucosidase, neutral 1 beta-Glucuromdase GUSB 1 beta-Ketoacyl reductase 1 Bile acid coenzyme A: amino acid N- BAAT

Acyltransferase

Bile salt export pump BSEP, PFIC2 2

Bile salt-stimulated lipase CEL 1

Bilirubin UDP-glucuronosyltransferase 1

Biliverdin reductase 2

Bradykinin receptor Bl 4

Bradykimn receptor B2 4

Branched cham keto acid dehydrogenase El, BCKDHA 1 alpha polypeptide

Branched chain keto acid dehydrogenase El, BCKDHB 1 beta polypeptide

Brush border guanylyl cyclase 1

Ca(2+) transporting ATPase, fast twitch ATP2A1 2

Ca(2+) transporting ATPase, slow twitch ATP2A2 2

Cadherin E CDH1 6

Cadherin EP 6

CadheeinN CDH2 6

Cadherin P CDH3 6

Calcitomn/Calcitonm gene-related peptide CALCA 5 alpha

Calcium channel, voltage-dependent, Alpha IF CACNA IF 5 subumt

Calcium channel, voltage-dependent, Alpha- CACNA 1B 5

1 B (CACNL1A5)

Calcium channel, voltage-dependent, Alpha- CACNA IC 5

1 C

Calcium channel, voltage-dependent, Alpha- CACNA ID 5

1 D

Calcium channel, voltage-dependent, Alpha- CACNA 1E 5

I E (CACNL1 A6)

Calcium channel, voltage-dependent, Alpha- CACNA2 5

2/delta

Calcium channel, voltage-dependent, Beta I CACNB1 5

Calcium channel, voltage-dependent, Beta 3 CACNB3 5

Calcium channel, voltage-dependent, CACNG2 5

Neuronal, Gamma

Calcium channel, voltage-dependent, T-type 5

Calcium sensmg receptor CASR 2

Calmodulm 1 CALM1 6

Calmodulin 2 CALM2 6

Calmodulin 3 CALM3 6

Calmodulin dependent kinase 2

Cahnodulin-dependant protem kinase II CAMK2A 6

Calnexin CANX 6

Canalicular multispecific orga c amon CMOAT 2 transporter Carbamoylphosphate synthetase 1 CPS1

Carbamoylphosphate synthetase 2 CPS2

Carbomc anhydrase 3 CA3

Carbomc anhydrase 4 CA4

Carbomc anhydrase, alpha CA1

Carbomc anhydrase, beta CA2

Carboxylesterase 1 CES1

Carboxypeptidase CPN

Camitine acylcamitine translocase CACT

Camitine palmitoyltransferase I CPT1A

Camitine palmitoyltransferase II CPT2

Camitine tiansporter protein CDSP, SCD 2

Cartilage-hair hypoplasia gene CHH 5

Catalase CAT 4

Cathepsin B

Cathepsin D

Cathepsin E

Cathepsin G CTSG

Cathepsin H

Cathepsin K CTSK

Cathepsin L

Cathepsin S

CD1 CD1 4

CD4 CD4 4

Cell adhesion molecule, intercellular, ICAM ICAM1 6

Cell adhesion molecule, leukocyte-endothelial, LECAM1 6

LECAM (CD62)

Cell adhesion molecule, liver, LCAM LCAM 6

Cell adhesion molecule, neural, NCAM1 NCAM1 6

Cell adhesion molecule, neural, NCAM2 NCAM2 6

Cell adhesion molecule, platelet-endothelial, PECAM1 6

PECAM

Cell adhesion molecule, vascular, VCAM VCAM1 6 c-erbB2 FRBB2 6 c-erbB3 ERBB3 6 c-erbB4 ERBB4 6

Ceruloplasmin precursor CP 1

Chemokine receptor CCR2 CCR2 4

Chemokine receptor CCR3 CCR3 4

Chemokine receptor CCR5 CCR5 4

Chemokine receptor CXCR4 CXCR4 4

CMtotriosidase CHIT 1

CMoride Channel 5 CLCN5 3

CMoride channel KB CLCNKB 3

Cholecystoldnin CCK 5

Cholecystokimn B receptor CCKBR 5 Cholestasis, progressive familial mtrahepatic 1 FIC1 6 gene

Cholesterol ester hydroxylase 1

Choline acetyltransferase CHAT 1

CMomogranin A CHGA 6

Chymotrypsinogen 1

Citrate synthase 1

Clathrin 2

Clusterin CLU 6

CoA transferase 1

Cockayne syndrome gene, CKNI CKNI 6

Collagen I alpha 1 COL1A1 3

Collagen I alpha 2 COL1A2 3

Collagen II alpha 1 COL2A1 3

Collagen III alpha 1 COL3A1 3

Collagen IV alpha 1 COL4A1 3

Collagen IV alpha 2 COL4A2 3

Collagen IV alpha 3 COL4A3 3

Collagen IV alpha 4 COL4A4 3

Collagen IV alpha 5 COL4A5 3

Collagen IV alpha 6 COL4A6 3

Collagen IX alpha 2 COL9A2, EDM2 3

Collagen IX alpha 3 COL9A3 3

Collagen receptor COLR 3

Collagen V alpha 1 COL5A1 3

Collagen V alpha 2 COL5A2 3

Collagen VI alpha 1 COL6A1 3

Collagen VI alpha 2 COL6A2 3

Collagen VI alpha 3 COL6A3 3

Collagen VII alpha 1 COL7A1 3

Collagen X alpha 1 COL10A1 3

Collagen X alpha 1 COLI 1 AI 3

Collagen XI alpha 2 COL11A2 3

Collagen XVII alpha l COL17A1 3

Colony-stimulating factor 1 CSF1 6

Complement component Cl inMbitor C1 NH 4

Complex I 1

Comp ex II 1

Complex III 1

CorticotropMn-releasing hormone CRH 2

CorticotropMn-releasmg hormone receptor CRHR1 2

C-reactive protein CRP 4

Creb bmding protein CREBBP 6

Cu2+ transporting ATPase beta polypeptide ATP7B 1

Cubilin CUBN 2

Cyclic AMP-dependent protein kinase PKA 1

Cyclic nucleotide phosphodiesterase 1 B PDE1B 1 Cyclic nuc eotide phosphodiesterase 2A3 PDE2A3

Cyclic nucleotide phosphodiesterase 3 A PDE3A

Cyclic nucleotide phosphodiesterase 3B PDE3B

Cyclic nucleotide phosphodiesterase 4A PDE4A

Cyclic nucleotide phosphodiesterase 4C PDE4C

Cyclic nucleotide phosphodiesterase 5 A PDE5A

Cyclic nucleotide phosphodiesterase 6A PDE6A

Cyclic nucleotide phosphodiesterase 6B PDE6B

Cyclic nucleotide phosphodiesterase 7 PDE7

Cyclic nucleotide phosphodiesterase 8 PDE8

Cyclic nucleotide phosphodiesterase 9A PDE9A

Cyclin F CCNF 6

Cyclin-dependent kinase 2 CDK2 6

Cyclin-dependent kinase inMbitor IC (P57, CDKN 1C 6

KIP2)

Cyclooxygenase 1 COX1

Cyclooxygenase 2 COX2

CYP11A1 CYP11A1

CYP11B1 CYP11B1

CYP11B2 CYP11B2

CYP17 CYP17

CYP19 CYP19

CYPIAI CYPIAI

CYP1A2 CYP1A2

CYP1B1 CYP1B1

CYP21 CYP21

CYP24 CYP24

CYP27 CYP27

CYP27B1 PDDR

CYP2A1 CYP2A1

CYP2A13 CYP2A13

CYP2A3 CYP2A3

CYP2A6V2 CYP2A6V2

CYP2A7 CYP2A7

CYP2B6 CYP2B6

CYP2C18 CYP2C18

CYP2C19 CYP2C19

CYP2C8 CYP2C8

CYP2C9 CYP2C9

CYP2D6 CYP2D6

CYP2E1 CYP2E1

CYP2FI CYP2FI

CYP2J2 CYP2J2

CYP3A3 CYP3A3

CYP3A4 CYP3A4

CYP3A5 CYP3A5

CYP3A7 CYP3A7 CYP4A11 CYP4N11

CYP4B1 CYP4B1

CYP4F2 CYP4F2

CYP4F3 CYP4F3

CYP51 CYP51

CYP5AI CYP5N1

CYP7A CYP7N

CYP8 CYP8

CystatMonase CTH

CystatMone beta synthase CBS

Cysteine-rich intestinal protein 2

Cystic fibrosis transmembrane conductance CFTR 5 regulator, CFTR

Cystinosin CTΝS 2

Cytidine deaminase CDA

Cytidine-5-prime-triphosphate synthetase CTPS

CytocMome a

CytocMome c

CytocMome c oxidase, MTCO

Cytokine-suppressive antiinflammatory drug- CSBPl 4 binding protein 1

Cytokine-suppressive antiinflammatory drug- CSBP2 4 binding protein 2

DAX1 nuclear receptor DAX1 4

Deleted in colorectal carcinoma DCC 6

Delta aminolevulinate dehydratase NLND 1

Delta(4)-3-oxosteroid 5-beta-reductase 1

Delta- 7-dehydrocholesterol reductase DHCR7 1

Dihydrodiol dehydrogenase 1 DDHI 1

Dihydrolipoamide branched cham tiansacylase DBT 5

Dihydrolipoamide dehydrogenase DLD 5

DNN glycosylases 1

Dopamine beta hydroxylase DBH 1

Dopamine receptors Dl DRD1 5

Dopamine receptors D2 DRD2 5

Dopamine receptors D3 DRD3 5

Dopamine receptors D4 DRD4 5

Dopamine receptors D5 DRD5 5

Dynamin DΝMI 6

Dynem 6

DystropMa myotomca DM, DMPK 1

DystropMa myotomca, atypical DM2 1

DystropMn DMD 3

EBI 6

Elastase I ELNSI 1

Elastase 2 ELNS2 1

Electron-tiansfering-flavoprotein alpha ETFN 2 ElectiOn-transfering-flavoprotein beta ETFB 2

Electton-ttansferring flavoprotem ETFDH 1 dehydrogenase

Endothelin I EDΝ1 5

Endothelin 2 EDΝ2 5

Endothelin 3 EDN3 5

Endothelin converting enzyme ECE1 5

Endothelin receptor type N EDNRA 5

Endothelin receptor type B EDNRB 5

Enolase ENO1 1

Enoyl CoA isomerase 1

Enoyl CoN reductase 1

Enteric lipase 2

Enterokinase PRSS7, ENTK 1

EpMin receptor tyrosine kinase N EPHA 6

Ephrin receptor tyrosine kinase B EPHB 6

Epidermal growth factor EGF 6

Epidermal growth factor receptor EGFR 6

ErytMocyte membrane protein band 4.1 EPB41 3

ErytMopoietin EPO 4

Excision repair complementation group 2 ERCC2 1 protein

Excision repair complementation group 2 ERCC3 1 protem

Eyes absent 1 EYAI 6

Faciogemtal dysplasia FGD1, FGDY 2

Factor 1 (Νo. one) FI ^' 4

Factor B, properdin 4

Factor D 4

Factor H HF1 4

Factor I (letter 1) IF 4

Factor III F3 4

Factor IX F9 4

Factor V F5 4

Factor VII F7 4

Factor VIII F8 4

Factor X F10 4

Factor XI Fll 4

Factor XII F12 4

Factor XIII N & B F13A & F13B 4

FNDH dehydrogenase 1

Fancom anemia, complementation group N _„ FANCA 2

Fancom anemia, complementation group C FANCC 2

Fancom anemia, complementation group D FANCD 2

Fatty acid bindmg proteins FNBP1 2

Fatty acid binding proteins FNBP2 FABP2 2

Fatty acid bindmg proteins FNBP3 2 Fatty acid binding proteins FABP4 2

Fatty acid binding proteins FABP5 2

Fatty acid binding proteins FNBP6 2

Ferritin, H subm it 2

Ferritin, L submiit FTL 2

Fibroblast growth factor FGF1 6

Fibroblast growth factor receptor 1 FGFR1 6

Fibroblast growth factor receptor 2 FGFR2 6

Fibroblast growth factor receptor 3 FGFR3 6

Fibronectin precursor FΝ1 6

Flavin-contaimng monooxygenase 1 FMOL 1

Flavin-contaming monooxygenase 2 FMO2 1

Flavm-contaimng monooxygenase 3 FMO3 1

Flavin-contaimng monooxygenase 4 FMO4 1

Folic acid receptor FOLR 6

Follicle stimulating hormone receptor FSHR,ODGl 6

Follicle stimulating hormone, FSH FSHB 6

Forkhead transcription factor 10 FKHL10 6

Forkhead transcription factor 14 FKHL14 6

Fragile site, folic acid type, rare, fra(X) N FRNXN 5

Fructose- 1 ,6-diphosphatase FBP1 1

Fucosidase alpha-L-1 FUCN1 1

Fucosidase alpha-L-2 1

Fucosyltransferase 2 FUT2 2

Fucosyltransferase 3 FUT3 2

Fumarase FH 1

G/T mismatch binding protein GTBP,MSH6 6

Galactocerebrosidase GNLC 1

Galactose 1 -phosphate uridyl-tiansferase GALT 1

Galactosyltransferase 1 GT1 6

Galactosyltransferase, alpha 1,3 GGTA1 6

Galactosyltransferase, beta 3 B3GALT 6

Galamn GAL 5

Galamn receptor GALΝRL 5

Gamma-glutamyltransferase 1 GGT1 2

Gamma-glutamyltransferase 2 GGT2 2

Gap junction protein beta I GJB1 2

Gastric inMbitory polypeptide GIP GIP 2

Gastric inMbitory polypeptide receptor, GIPR GIPR 2

Gastric Intrinsic factor, GIF GIF 1

Gastric lipase, LIPF 2

Gastrin GAS 6

Gastrin releasing peptide GRP 2

Gastrin releasing peptide receptor GRPR 2

Glial-cell derived neurotropMc factor (GDΝF) 5 receptor

Glial-cell derived neurotropMc factor, GDΝF GDΝF 5 Glucagon receptor GCGR 6

Glucagon synthase 2

Glucagon-like peptide receptor 1 GLP1R 6

Glucoldnase GCK

Glucose-6-phosphatase G6PC

Glucose-6-phosphatase translocase G6PT1

Glucose-6-phosphate dehydrogenase G6PD

Glucosidase, acid alpha GAN

Glutamate dehydrogenase GLUD1

Glutamine synthase

Glutamine tiansporter 2

GlutatMone GSH 2

GlutatMone peroxidase, GPX2 GPX2

GlutatMone S-transferase, GSTZI GSTZI

Glyceraldehyde-3 -phosphate dehydrogenase, GAPDH

GAPDH

Glycerol kinase GK

Glycinamide ribonucleotide (GAR) GART tiansformylase

Glycine dehydrogenase GLDC

Glycogen brancMng enzyme GBEI

Glycogen phosphorylase PYGL

Glycogen synthase 1 (muscle) GLYS1

Glycogen synthase 2 (liver) GYS2

Glycosyltiansferases, ABO blood group ABO

Gonadotropin releasing hormone GΝRH 6

Goosecoid GSC 6

Growth arrest-specific homeobox GAX 6

Growth hormone receptor GHR 6

Guanylin GUCN2 2

H(+), K(+) - ATPase NTP4B 5

Haem oxygenase 2

Haemoglobin alpha 1 HBN1 2

Haemoglobin alpha 2 HBA2 2

Haemoglobin beta HBB 2

Haemoglobin delta HBD 2

Haemoglobin gamma A HBG1 2

H emoglobin gamma B HBG2 2

Haemoglobin gamma G HBGG 2

Heat shock protein, HSP60 4

Heat shock protein, HSP70 4

Heat shock protein, HSP90 4

Heat shock protein, HSPA1 4

Heat shock protein, HSPA2 4

Heparan sulfamidase 1

Heparin bindmg epidermal growth factor HBEGF 6

Heparin Cofactor 11 HCF2 4 Hepatic nuclear factor-3-beta HNF3B ^' 1

Hepatic nuclear factor-4-alpha HNF4A 1

Hepatitis B virus Integration site 1 HVBS1

Hepatitis B virus mtegration site 2 HVBS6

Hepatocyte growth factor HGF 6

Hermansky-pudlak syndrome gene HPS 2

Hexokinase 1 HKI 1

Hexokinase 2 HK2 1

Hexosamimdase A HEXA,TSD 1

Hexosamimdase B HEXB 1

Histamine receptors, Hl 5

Histamine receptors, H2 5

Histamine receptors, H3 5

Histatin 1 4

Histatin 2 4

Histatin 3 HTN3 4

HLA-B associated transcript I BAT1 4

HMG-CoA lyase HMGCL

HMG-CoA reductase HMGCR

HMG-CoA synthase HMGCS2

Holocarboxylase synthetase HLCS

Hormone-sensitive lipase HSL

Hydroxyacyl glutatiiione hydrolase HAGH

HypoxantMne-guamne HPRT phosphoribosyltransferase, HGPRT

IC7 A and B 4

Iduronate 2 sulphatase IDS 1

Immunoglobulin E (IgE) reponsiveness gene IGER 4

Immunoglobulin E (IgE) serum concentiation IGES 4 regulator gene

Immunoglobulin gamma (IgG) 2 IGHG2 4

Immunoglobulin heavy mu chain IGHM 4

Immunoglobulm J polypeptide IGJ 4

Immunoglobulm kappa constant region IGKC 4

Immunoglobulm kappa variable region IGKV 4

InMbin, alpha INHA 6

InMbin, beta A INHBA 6

InMbin, beta B INHBB 6

InMbin, beta C INHBC 6

Inositol 1,4,5-triphosphate receptor 3 ITPR3 6

Insulin INS 6

Insulin receptor INSR 6

Insulin-like growth factor 1 IGF1 6

Insulm-like growth factor 1 receptor IGFIR 6

Msulin-like growth factor 2 IGF2 6

Insulin-like growth factor 2 receptor IGF2R 6

Integrin beta 1 ITGBL 6 Integrin beta 2 ITGB2 6 ntegrin beta 3 ITGB3 6 Integrin beta 6 ITGB6 6 Integrin, alpha M ITGAM 6 Integrin, alpha X ITGAX 6

Inter-alpha-trypsin inMbitor, IATI 1 Interferon alpha IFNA1 4 Interferon beta IFNB 4 Interferon gamma IFNG 4 Interferon gamma receptor 1 IFNGR1 4 Interferon gamma receptor 2 IFNGR2 4 Interferon regulatory factor 1 IRF1 4 Interferon regulatory factor 4 IRF4 4 Interieukin(IL) 1 receptor IL1R 4 Interleukin(IL) 1, alpha IL1A 4 lnterleukin(IL) 1, beta IL1B 4 lnterleukin(IL) 10 IL10 4 Interleukin(IL) 10 receptor IL10R 4 lnterleukin(IL) 11 IL11 1 lnterleukin(IL) 11 receptor IL11R 4 Interleukin(IL) 12 IL12 4 Interleukin(IL) 12 receptor, beta 1 IL12RBI 4 Interleukin(IL) 13 IL13 4 Interleukin(IL) 13 receptor IL13R 4 InterleukinQL) 2 IL2 4 lnterleukin(IL) 2 receptor, alpha IL2RA 4 lnterleukin(IL) 2 receptor, gamma IL2RG 4 lnterleukin(IL) 3 IL3 4 Interleukin(IL) 3 receptor IL3R 4 lnterleukin(IL) 4 IL4 4 lnterleukin(IL) 4 receptor IL4R 4 Interleukin(IL) 5 IL5 4 lnterleukin(IL) 5 receptor IL5R 4 lnterleukin(IL) 6 IL6 4 lnterleukin(IL) 6 receptor IL6R 4 Interleukin(IL) 7 IL7 4 lnterleukin(IL) 7 receptor IL7R 4 Mterleukin(IL) 8 IL8 4 Interleukin(IL) 8 receptor IL8R 4 Mterleukin(IL) 9 IL9 4 lnterleukin(IL) 9 receptor IL9R 4 Interleukin(IL) receptor antagomst 1 IL1RN, IL1RA 4 Mtestmal alkaline phosphatase IAP 2 Islet amyloid polypeptide IAPP 5 Isocitiate dehydrogenase 1 Isovaleric acid CoA dehydrogenase IVD 1 Kallikrem 3 KAK3 4 Kaliman syndrome gene 1 KALI 6

Ketohexokinase KHK 1 ketolase 1

Kminogen, High molecular weight KNG 4

Kynuremne hydroxylase 1

Kynuremnease 1

Lactase 1

Laminin 5, alpha 3 LAMA3 6

Lamimn 5, beta 3 LAMB3 6

Lamimn 5, gamma 2 LAMC2 6

Lamimn M LAMM 6

Lamimn receptor 1 LAMR1 6

Latent tiansforming growth factor-beta bindmg LTBP2 6 protein 2

LecitMn-cholesterol acyltiansferase LCAT 1

Leptin LEP 6

Leptin receptor LEPR 6

Leukocyte-specific transcript 1 LST-1 4

Leukotriene A4 hydrolase 4

Leukotriene A4 synthase LTA4S 1

Leukotriene B4 receptor 4

Leukotriene B4 synthase LTB4S 1

Leukotriene C4 receptor 4

Leukotriene C4 synthase LTC4S 1

Leukotriene D4/E4 receptor 4

LIM homeobox protein 1 LHX1 6

LIM homeobox transcription factor 1, beta LMX1B 6

Lipoamide dehydrogenase OGDH 1

Lipoprotein lipase LPL 4

Lipoprotein receptor, Low Density LDLR 2

Lipoprotein, High Density HDLDT1 2

Lipoprotein, Intermediate Density 2

Lipoprotein, Low Density 1 2

Lipoprotein, Low Density 2 2

Lipoprotein, Very Low Density VLDLR 2

Low density lipoprotein receptor-related protein LRP 2 precursor

Lymphoid enhancer-binding factor LEF-1 6

Lysosomal acid lipase LIPA 1

Lysozyme LYZ 4

MAD (mothers against decapentaplegic, MADH4 6

DrosopMla) homologue 4

MADS box transcription-enhancer factor 2A MEF2A 6

MADS box transcription-enhancer factor 2B MEF2B 6

MADS box transcription-enhancer factor 2C MEF2C 6

MADS box transcription-enhancer factor 2D MEF2D 6

Malonyl CoA decarboxylase 1 Malonyl CoA transferase 1

Maltase-glucoamylase 1

Mannosidase, alpha B lysosomal MANB 1

Marenostrin MEFV 2

MAX-interacting protein 1 mxi l 6

MEK kinase, MEKK 1

Melanocortin 2 receptor MC2R 2

Melanocortin 4 receptor MC4R 2

Memn MEN1 6

MetallotMonein 2

Mevalonate kinase MVK 1

MHC Class 1: A 4

MHC Class 1: B 4

MHC Class 1: C 4

MHC Class 1: LMP-2, LMP-7 4

MHC Class l: Tapl ABCR,TAP1 4

MHC Class II: DP HLA-DPB1 4

MHC Class II: DO 4

MHC Class II: DR 4

MHC Class II: Tap2 TAP2, PSF2 4

MHC Class II: Complementation group A MHC2TA 4

MHC Class II: Complementation group B RFXANK 4

MHC Class II: Complementation group C RFX5 4

MHC Class II: Complementation group D RFXAP 4

Microsomal triglyceride transfer protein MTP 2

Mitochondrial trifunctional protein, alpha HADHA 1 subumt

Mitochondrial trifunctional protein, beta subumt HADHB

Molybdenum cofactor synthesis 1 MOCS1

Molybdenum cofactor synthesis 2 MOCS2

Monoamine oxidase A MAOA

Monoamine oxidase B MAOB

Motilin MLN 6

Msh homeobox homolog 2 MSX2 6

Mucin 18 MUC18 2

Mucin, MUC2 2

Mucin, MUC5AC 2

Mucin, MUC6 2

Mucolipidoses GNPTA 1

Mulibrey namsm MUL 2

Muscarimc receptor, Ml CHRM1 5

Muscarimc receptor, M2 CHRM2 5

Muscarimc receptor, M3 CHRM3 5

Muscarimc receptor, M4 CHRM4 5

Muscarimc receptor, M5 CHRM5 5

Muscle phosphorylase PYGM 1

Mutated m colorectal cancers, MCC MCC 6 MutL homolog 1 MLHI 6

MutS homolog 2 MSH2 6

MutS homolog 3 MSH3 6

Myoglobin 2

Myosin 5A MY05A 3

Myosm 6 MY06 3

Myosin 7A MY07A 3

Myosm, cardiac MYH7 3

Myosin, light chain 2 MYL2 3

Myosin, light chain 3 MYL3 3

Myotubularin MTM1 3

Na+, K+ ATPase, alpha ATP1A1 6

Na+, K+ ATPase, beta 1 ATP1B1 6

Na+, K+ ATPase, beta 2 ATP1B2 6

Na+, K+ ATPase, beta 3 ATP1B3 6

Na+/H+ exchanger 1 NHE1 2

Na+/Η+ exchanger 2 NHE2 2

Na+/H+ exchanger 3 NHE3 2

Na+/H+ exchanger 4 NHE4 2

Na+/H+ exchanger 5 NHE5 2

Na+coupled glucose/galactose tiansporter 2

N-acetylgalactosamine-6-sulfate sulfatase GALNS 1

N-acetylglucosamine-6-sulfatase GNS 1

N-acetylglucosamimdase, alpha NAGLU 1

NADH dehydrogenase 1

NADH dehydrogenase (ubiquinone) Fe-S NDUFS1 1 protein I

NADH dehydrogenase (ubiqumone) Fe-S NDUFS4 1 protein 4

NADH dehydrogenase (ubiquinone) NDUFV1 1 flavoprotein 1

NADH-cytocMome b5 reductase DIA1 1

NB6 4

NepMolitMasis 2 NPHL2 2

NepMonophtMsis 1 NPHP1 2

NepMonophtMsis 2 NPHP2 2

NepMosis 1 NPHS1 2

Nerve growth factor NGF 6

Nerve growth factor receptor NGFR 6

Neuramimdase sialidase NEU 2

Neurofibromin 1 NF1 6

Neurofibromin 2 NF2 6

Neurokinin A NKNA 5

Neurokimn B NKNB 5

Neurotensin NTS 5

Neurotensin receptor NTSR1 5

Notch ligand -jagged I JAG 1, AGS 6 Nuclear factor I-kappa-B-like gene IKBL 4

Oncogene ERB 6

Oncogene ERB2 6

Oncogene ERBA 6

Oncogene ERBAL2 6

Oncogene GLI 1 GLI 6

Oncogene GLI2 GLI2 6

Oncogene GLI3 GLI3 6

Oncogene met MET 6

Oncogene myb MYB 6

Oncogene myc MYC 6

Oncogene n-myc 6

Oncogene ret RET 6

Oncogene r-myc 6

Oncogene sis PDGFB 6

Oncogene spil 6

Oncogene src 6

Oncogene v-Ki-ras2 KRAS2 6

Orexin ox 6

Orexin 1 receptor OX1R 6

Orexin 2 receptor OX2R 6

OmitMne transcarbamoylase OTC, NME1 1

Osteopontin OPN 6

Paired box homeotic gene 2 PAX2 6

Paired box homeotic gene 3 PAX3 6

Paired box homeotic gene 6 PAX6 6

Paired box homeotic gene 8 PAX8 6

Palmitoyl-protein tMoesterase PPT 2

Pancreatic amylase 1

Pancreatic colipase 2

Pancreatic lipase PNLIP

Pancreatic lipase related protein 1 PLRP1

Pancreatic lipase related protein 2 PLRP2

Paraoxonase PONI PONI

Paraoxonase PON2 PON2

Paraoxonase PON3

Parathyroid hormone PTH 6

Parathyroid hormone receptor PTHR1 6

Parathyroid hormone related-peptide PTHRP 6

Parathyroid hormone-like hormone PTHLH 6

Parvalbumin PVALB 6

Patched (DrosopMla) homolog, PTCH PTCH 6

Pepsin 2

Pepsinogen 1

Peptidases A 2

Peptidases B 2

Peptidases C 2 Peptidases D PEPD 2 Peptidases E 2 Peptidases S 2 Peroxidase, salivary SAPX 1 Peroxisomal membrane protein 1 PXMP1 3 Peroxisomal membrane protem 3 PXMP3 2 Peroxisome biogenesis factor 1 PEX1 2 Peroxisome biogenesis factor 19 PEX19 2 Peroxisome biogenesis factor 6 PEX6 2 Peroxisome biogenesis factor 7 PEX7 2 Peroxisome receptor 1 PXR1 2 Phenylalanine monooxygenase 1 Phosphatase & tensin homolog PTEΝ 6 Phosphate regulating gene with homologies to PHEX 6 endopeptidases on the X cMomosome Phosphoenolpyruvate carboxykinase PCK1 Phosphofructokinase, liver PFKL Phosphofructokinase, muscle PFKM Phosphoglucomutase Phosphoglucose isomerase GPI Phosphoglycerate kinase 1 PGKI Phosphoglycerate mutase 2 PGAM2 Phospholipase A2, group 10 PLA2G 10 4 Phospholipase A2, group 1B PLA2G 1B 4 Phospholipase N2, group 2N PLA2G2A 4 Phospholipase A2, group 2B PLA2G2B 4 Phospholipase A2, group 4A PLA2G4A 4 Phospholipase A2, group 4C PLA2G4C 4 Phospholipase A2, group 5 PLA2G5 4 Phospholipase A2, group 6 PLA2G6 4 Phospholipase C alpha 4 Phospholipase C beta 4 Phospholipase C delta PLCD1 4 Phospholipase C epsilon 4 Phospholipase C gamma PLCGI 4 Phosphomannomutase 2 PMM2 6 Phosphomannomutase 2 PMM2 2 Phosphomannose isomerase 1, PMI1 MPI 2 Phosphoribosyl pyrophosphate synthetase PRPS1 Phosphorylase kinase deficiency, liver PHK Phosphorylase kinase, alpha 1 (muscle) PHKA1 Phosphorylase kinase, alpha 2 PHKA2 Phosphorylase kinase, beta PHKB Phosphorylase kinase, delta Phosphorylase kinase, gamma 2 PHKG2 Plasminogen PLG Plasmmogen activator inMbitor 1 PAH Plasminogen activator mMbitor 2 PA12 1

Plasminogen activator receptor, Urokmase UPAR, PLAUR 3

Plasmmogen activator, Tissue PLAT, TPA 1

Plasminogen activator, Urokinase UPA, PLAU 1

Platelet derived growth factor PDGF 6

Platelet derived growth factor receptor PDGFR 6

Platelet monamine oxidase 2

Platelet-activating factor receptor PAFR 4

Polycystic kidney and hepatic disease 1 PKHD1 2

Polycystin 1 PKD1 2

Polycystin 2 PKD2 2

Polymorphonuclear elastase 2

Potassium inwardly-rectifying channel Jl KCNJ1 5

Potassium inwardly-rectifymg channel Jl 1 KCNJ 11 5

Potassium voltage-gated channel El KCNE1 5

Prekallikrein 4

Preproenkephalin PENK 5

Preproglucagon GCG, GLPL, GLP2 6

Preproglucagon 2

Preproinsulin 2

Procoliagen N-protease 1

Prolme dehydrogenase PRODH 1

Proline-rich protein BstNI subfamily 1 PRB1 3

Proline-rich protein BstNI subfamily 3 PRB3 3

Proline-rich protein BstNI subfamily 4 PRB4 3

Prolyl-4-hydroxylase 1

Pro-melamn-concentrating hormone PMCH 6

Proopiomelanocortin POMC 5

Prosaposin PSAP 5

Prostacyclin synthase 4

Prostaglandin 15-OH dehydrogenase HGPD, PGDH 4

Prostaglandin D - DP receptor 4

Prostaglandin El receptor 4

Prostagiandin E2 receptor 4

Prostaglandin E3 receptor 4

Prostaglandin F - FP receptor 4

Prostagiandin F2 alpha receptor 4

Prostaglandin 12 receptor 2

Prostaglandin IP receptor 4

Protease inMbitor 1 2

Protective protein for beta-galactosidase PPGB 1

Protein C PROC 4

Protein C inMbitor PCI 4

Protein kinase B PRKB 4

Protein S PROSI 4

Protein tyrosine phosphatase, non-receptor PTPNI2 6 type 12 ProtMombin precursor F2 4

Pterin-4-alpha-carbinolamine PCBD

Pyruvate carboxylase PC 1

Pyruvate decarboxylase PDHA 1

Pyruvate kinase PKLR 1

Quinoid dihydropteridine reductase QDPR 1

Renal glutaminase 2

Remn REN 1

Replication factor C RFC2 1

Retinoblastoma 1 RB1 6

Retinol binding protein 1 2

Retinol binding protein 2 2

RetinoscMsis, X-linked, juvemle RS 6

RIGUI RIGUI 6

SA homolog SAH 6

Salivary amylase, AMY1 2

SAP (SLAM-associated protein) SH2D1A 4

Secretin SCT 2

Secretin receptor, SCTR SCTR 2

Serotomn receptor, 5HT1A HTR1A 5

Serotomn receptor, 5HT1B HTR1B 5

Serotomn receptor, 5HT1C HTR1C 5

Serotomn receptor, 5HT1D HTR1D 5

Serotomn receptor, 5HT1E HTR1E 5

Serotomn receptor, 5HT1F HTR1F 5

Serotomn receptor, 5HT2A HTR2A 5

Serotomn receptor, 5HT2B HTR2B 5

Serotomn receptor, 5HT2C HTR2C 5

Serotomn receptor, 5HT3 HTR3 5

Serotomn receptor, 5HT4 HTR4 5

Serotomn receptor, 5HT5 HTR5 5

Serotomn receptor, 5HT6 HTR6 5

Serotomn receptor, 5HT7 HTR7 5

Sodium channel, non-voltage gated 1, alpha SCNN1A 5

Sodium channel, non-voltage gated 1, beta SCNN1B 5

Sodium channel, non-voltage gated 1, gamma SCNN1G 5

Sodium channel, voltage-gated, type 1, beta SCNLB 5 polypeptide

Solute carrier family 10 (sodium/bile acid SLC10A1 2 cotransporter family),member 1

Solute carrier family 10 (sodium/bile acid SLC10A2 2 cotransporter family),member 2

Solute carrier family 12, member 1 SLC12A1 2

Solute carder family 12, member 2 SLC12A2 2

Solute carrier family 12, member 3 SLC12A3 2

Solute carrier family 14, member 2 SLC14A2 2

Solute carrier family 15 (H+/peptide SLC15A1 2 transporter, intestinal), member 1

So ute carrier family 15 (H+/peptide SLC15A2 2 tiansporter, kidney), member 2

Solute carrier family 16 (monocarboxylate SLC16A1 2 tiansporter), member 1

Solute carrier family 16 (monocarboxylate SLC16A7 2 tianspofter), member 7

Solute carrier family 17, member 1 SLC17A1 2

Solute carrier family 17, member 2 SLC17A2 2

Solute carrier family 2 (facilitated glucose SLC2A1 2 transporter), member 1

Solute carrier family 2 (facilitated glucose SLC2A2 2 transporter), member 2

Solute carrier family 2 (facilitated glucose SLC2A3 2 tiansporter), member 3

Solute carrier family 2 (facilitated glucose SLC2A4 2 transporter), member 4

Solute carrier family 2 (facilitated glucose SLC2A5 2 tianspofter), member 5

Solute carrier family 21, member 2 SLC21A2 2

Solute carrier family 21, member 3 SLC21A3 2

Solute carrier family 22, member 1 SLC22A1 2

Solute carrier family 22, member 2 SLC22A2 2

Solute carrier family 22, member 5 SLC22A5 2

Solute carrier family 3 (facilitated glucose SLC3A1 2 transporter), member 1

Solute carrier family 4 (amon exchanger), SLC4A1 2 member I

Solute carrier family 4 (amon exchanger), SLC4A2 2 member 2

Solute carrier family 4 (amon exchanger), SLC4A3 2 member 3

Solute carrier family 5 (sodium/glucose SLC5A1 2 transporter), member 1

Solute carrier family 5 (sodium/glucose SLC5A2 2 tiansporter), member 2

Solute carrier family 5 (sodium/glucose SLC5A5 2 tianspofter), member 5

Solute carrier family 5, member 3 SLC5A3 2

Solute carrier family 6 (GAMMA- SLC6A1 2

AMINOBUTYRIC ACID transporter), member 1

Solute carrier family 6 (neurotiansmifter SLC6A3 2 tiansporter, dopamme), member 3

Solute carrier family 6 (neurotiansmifter SLC6A2 2 tiansporter, noradrenaline), member 2

Solute carrier family 6, member 6 SLC6A6 2 Solute carrier family 7(amino acid tiansporters, SLC7AI 2 member 1

Solute carrier family 7(amino acid tiansporters, SLC7A2 2 member 2

Solute carrier family 7(amino acid tiansporters, SLC7A7 2 member 7

Somatostatin SST 5

Somatostatin receptor, SSTR1 SSTR1 5

Somatostatin receptor, SSTR2 SSTR2 6

Somatostatin receptor, SSTR3 SSTR3 5

Somatostatin receptor, SSTR4 SSTR4 5

Somatostatin receptor, SSTR5 SSTR5 5

SpMngomyelinase SMPD1 1

Steroid 5 alpha reductase 1 SRD5A1 1

Steroid 5 alpha reductase 2 SRD5A2 1

Sterol carrier protein 2 SCP2 2

Substance P 5

Succinyl CoA synthase 1

Sucrase 1

Sucrase-isomaltase SI 2

Superoxide dismutase 1 SOD1 1

Surfeit I SURF1 6

Talin TLN 6

Talin, TLN 3

TATA binding protein TBP 6

T-BOX 1 TBXI 6

T-BOX 2 TBX2 6

T-BOX 3 TBX3 6

TMolase, perioxisomal 1

TMombm receptor F2R 4

TMombopoietin THPO 6

TMomboxane A synthase 1 TBXAS1 4

Tip-associated protein TAP 4

Topoisomerase I 1

Torticolhs, keloids, cryptorcMdism and renal TKCR 6 dysplasia gene

Transacylase 1

Transcobalamin 1, TCN1 2

Transcobalamin 2, TCN2 TCN2 2

Transcription factor 1, hepatic TCF1 6

Transcription factor 2, hepatic TCF2 6

Transferrin TF 6

Transferrin receptor TFRC 6

Transforming growth factor, beta 2 TGFB2 6

Transforming growth factor, beta mduced TGFB1 6

Transforming growth factor, beta receptor 2 TGFBR2 6

Transglutaminase 4 TGM4 6 Transketolase TKT 1

Transketolase-like I TKTLI 1

Translocation in renal carcmoma on TRC8 6 cMomosome 8 gene

Transthyretin TTR 2

Trehalase 2

Triosephosphate isomerase TPI 1 1

Trypsin inMbitor 1

Trypsinogen 1 TRY1 1

Trypsinogen 2 TRY2 1

Trypsinogen activation peptide 2

Tuberous sclerosis 1 TSC1 6

Tuberous sclerosis 2 TSC2 6

Tumour necrosis factor (TNF) receptor TRAF1 4 associated factor 1

Tumour necrosis factor (TNF) receptor TRAF2 4 associated factor 2

Tumour necrosis factor (TNF) receptor TRAF3 associated factor 3

Tumour necrosis factor (TNF) receptor TRAF4 associated factor 4

Tumour necrosis factor (TNF) receptor TRAF5 associated factor 5

Tumour necrosis factor (TNF) receptor TRAF6 associated factor 6

Tumour necrosis factor alpha TNFA 4

Tumour necrosis factor alpha receptor TNFAR 4

Tumour necrosis factor beta TNFB 4

Tumour necrosis factor beta receptor TNFBR 4

Tumour protein p53 TP53,P53 6

Tumour protein p63 TP63 6

Tumour suppresssor gene DRA DRA 4

Tyrosinase TYR

UDP-glucose pyrophosphorylase

UDP-glucuronosyltransferase 1 ugtld, UGT1

UDP-glucuronosyltransferase 2 UGT2

Uridinediphosphate(UDP)-galactose-4- GALE epimerase

Uroporphyrinogen decarboxylase UROD

Uroporphyrinogen III synthase UROS

Vasoactive intestinal polypeptide VIP 5

Vasoactive intestinal polypeptide receptor VIPR 5

VasoinMbitory peptide 6

Villin 3

Von Hippel-Lindau gene VHL 6

Von Willebrand factor VWF 2

Wiskoft-Aldrich syndrome protein WASP, THC 4 Wolf-Hirschhom syndrome candidate 1 gene WHSC1 6

Wolfram syndrome 1 gene WFS1 3

XantMne dehydrogenase XDH

Xeroderma pigmentosum, complementation XPA group A

Xeroderma pigmentosum, complementation XPB group B

Xeroderma pigmentosum, complementation XPC group C

Xeroderma pigmentosum, complementation group D

Xeroderma pigmentosum, complementation group E

Xeroderma pigmentosum, complementation XPF group F

Xeroderma, pigmentosum, complementation ERCC5 group G

Zmc finger protein 3 ZIC3 3,

Legende für die Spalte Proteiι_--unktion:

1 Enzym 2 Transport und Lagerung

3 Struktur 4 Immumtät

5 Nervale Transmission 6 Wachstum und Differenzierung

Tabelle 10

Fehlfunktion, Schädigung oder Erkrankung des Atmungssystems

Liste der Gene HUGO Protein-

Gensymbol fiinktion

11 beta hydroxysteroid dehydrogenase 2 HSD11B2

2,3-bisphosphoglycerate mutase BPGM

3 beta hydroxysteroid dehydrogenase 2 HSD3B2

Acetoacetyl 1-CoA-tMolase ACAT1

Acetoacetyl 2-CoA-tMolase ACAT2

Acetyl CoA synthase

Acetylcholine receptor, nicotmic, gamma CHRNG

Acetylcholinesterase ACHE

Acomtase

Acyl CoA dehydrogenase, long chain ACADL

Acyl CoA dehydrogenase, medium chain ACADM

Acyl CoA dehydrogenase, short chain ACADS

Acyl CoA dehydrogenase, very long chain ACADVL

Adaptin, beta 3A ADTB3A 2

Adenosine deaminase ADA 1

Adenosme receptor AI ADORA1 5

Adenosine receptor A2A ADORA2A 5

Adenosine receptor A2B ADORA2B 5

Adenosine receptor A3 ADORA3 5

Adenylate cyclase 1 ADCY1

Adenylate cyclase 2 ADCY2

Adenylate cyclase 3 ADCY3

Adenylate cyclase 4 ADCY4

Adenylate cyclase 5 ADCY5

Adenylate cyclase 6 ADCY6

Adenylate cyclase 7 ADCY7

Adenylate cyclase 8 ADCY8

Adenylate cyclase 9 ADCY9

Adrenergic.receptor, alphal ADRA1 5

Adrenergic receptor, alpha2 ADRA2 5

Adrenergic receptor, betal ADRB1 5

Adrenergic receptor, beta2 ADRB2 5

Adrenergic receptor, beta3 ADRB3 5

AdrenocorticotropMc hormone (ACTH) ACTHR 6 receptor

Albumin, ALB ALB 2

Alcohol dehydrogenase 1 ADH1 1

Alcohol dehydrogenase 2 ADH2 1

Alcohol dehydrogenase 3 ADH3 1

Alcohol dehydrogenase 4 ADH4 1 Alcohol dehydrogenase 5 ADH5 1

Alcohol dehydrogenase 6 ADH6 1

Alcohol dehydrogenase 7 ADH7 1

Aldolase A ALDOA 1

Aldolase B ALDOB 1

Aldolase C ALDOC 1

Aldosterone receptor MLR 6

Alpha 2 macroglobulm A2M 4

Alpha 1 -antichymotrypsin AACT 1 alphal -Antitrypsin PI 1 alpha2-Antiplasmin PLI 1 alpha- Actimn 2 ACTN2 6 alpha- Actimn 3 ACTN3 6 alpha-Galactosidase A GLA 1 alpha-ketoglutarate dehydrogenase 1

Aminopeptidase P XPNPEP2 1

AmpMregulin AREG 6

Androgen receptor AR 6

Angiopoietin 1 ANGPT1 6

Angiopoietin 2 ANGPT2 6

Angiotensin converting enzyme ACE,DCP1 1

Angiotensin receptor 1 AGTR1 2

Angiotensm receptor 2 AGTR2 2

Angiotensinogen AGT 1

Annexin 1 ANX 1 1

Antidiuretic hormone receptor ADHR 2

AntitMombin III AT3 1

Apoüpoprotein E APOE 2

Arginase ARG1 1

Argimne vasopressin AVP 5

Argimne vasopressm receptor 1 A AVPR1A 5

Argimne vasopressin receptor 1 B AVPR1B 5

Arginine vasopressin receptor 2 AVPR2 5

Arginosuccmate lyase ASL 1

Arylsulfatase D ARSD 1

Arylsulfatase E ARSE 1

Arylsulfatase F ARSF 1

Aspartate transaminase 2

Ataxia telangiectasia gene, AT ATM 6

ATP/ADP tianslocase 1

Atriai natriuretic peptide ANP 6

Atiial natiiuretic peptide receptor A NPR1 6

Atiial natriuretic peptide receptor B NPR2 6

Atriai natriuretic peptide receptor C NPR3 6 beta-galactosidase GLB1 1 beta-Glucuromdase GUSB 1

Blotmidase BTD 1 Bloom syndrome protem BLM 6

Bradykimn receptor Bl

Bradyldnin receptor B2

Butyrylchohnesterase BCHE 1

Cl inMbitor 1

Cadherin E CDH1 6

Cadherin EP 6

Cadherin N CDH2 6

Cadherin P CDH3 6

Calcitomn receptor /Calcitomn gene-related CALCR 5 peptide receptor

Calcitonin/Calcitomn gene-related peptide CALCA 5 alpha

Calcium channel, voltage-dependent, alpha CACNA1F 5

IF subunit

Calcium channel, voltage-dependent, Alpha- CACNAL B 5

1B (CACNL1A5)

Calcium Channel, voltage-dependent, Alpha- CACNA1C 5

1 C

Calcium channel, voltage-dependent, Alpha- CACNA1D 5

1 D

Calcium channel, voltage-dependent, Alpha- CACNA1E 5

E (CACNL1A6)

Calcium channel, voltage-dependent, Alpha- CACNA2 5

2/delta

Ca cium channel, voltage-dependent, Beta 1 CACNB1 5

Calcium channel, voltage-dependent, Beta 3 CACNB3 5

Calcium channel, voltage-dependent, CACNG2 5

Neuronal, Gamma

Calcium Channel, voltage-dependent, T-type 5

Calmodulin 1 CALM1 6

Calmodulm 2 CALM2 6

Calmodulin 3 CALM3 6

Calnexm CANX 6

Carbomc anhydrase 3 CA3

Carbomc anhydrase 4 CA4

Carbomc anhydrase, alpha CA1

Carbomc anhydrase, beta CA2

Camitine acetyltiansferase CRAT

Camitine acylcamitine translocase CACT

Catalase CAT 4

Cathepsin B

Cathepsin D

Cathepsin E

Cathepsin G CTSG

Cathepsin H

Cathepsin K CTSK Cathepsin L 1

Cathepsin S 1

CD1 CD1 4

CD4 CD4 4

Cell adhesion molecule, mtercellular, ICAM ICAM1 6

Cell adhesion molecule, leukocyte- LECAM1 6 endothelial, LECAM (CD62)

Cell adhesion molecule, liver, LCAM LCAM 6

Cell adhesion molecule, neural, NCAM1 NCAM1 6

Cell adhesion molecule, neural, NCAM2 NCAM2 6

Cell adhesion molecule, platelet-endothelial, PECAMl 6

PECAM

Cell adhesion molecule, vascular, VCAM VCAM1 6

Chemokine receptor CXCR4 CXCR4 4

CMtotriosidase CHIT 1

Cholecystokimn CCK 5

Cholecystokmin B receptor CCKBR 5

Choline acetyltransferase CHAT 1

Citrate synthase 1

Coenzyme Q (CoQ)/ubiquinone 1

Collagen I alpha 1 COL1A1 3

Collagen I alpha 2 COL1A2 3

Collagen II alpha 1 COL2A1 3

Collagen III alpha 1 COL3A1 3

Collagen IV alpha 1 COL4A1 3

Collagen IV alpha 2 COL4A2 3

Collagen IV alpha 3 COL4A3 3

Collagen TV alpha 4 COL4A4 3

Collagen IV alpha 5 COL4A5 3

Collagen IV alpha 6 COL4A6 3

Collagen IX alpha 2 COL9A2, EDM2 3

Collagen IX alpha 3 COL9A3 3

Collagen receptor COLR 3

Collagen V alpha 1 COL5A1 3

Collagen V alpha 2 COL5A2 3

Collagen VI alpha 1 COL6A1 3

Collagen VI alpha 2 COL6A2 3

Collagen VI alpha 3 COL6A3 3

Collagen VII alpha 1 COL7A1 3

Collagen X alpha 1 COLI 0 AI 3

Collagen X alpha 1 COLI 1 AI 3

Collagen XI alpha 2 COL11A2 3

Collagen XVII alpha l COL17A1 3

Colony-stimulating factor 1 CSF1 6

Colony-stimulating factor 1 receptor CSF1R 6

Colony-stimulating factor 2 CSF2 6

Colony-stimulating factor 2 alpha receptor CSF2RA 6 Colony-stimulatmg factor 2 beta receptor CSF2RB 6 Colony-stimulating factor 3 CSF3 6 Colony-stimulating factor 3 receptor CSF3R 6 Complement component Cl inMbitor C1NH 4 Complement component Clqa CIQA 4 Complement component Clqb CIQB 4 Complement component Clqg CIQG 4 Complement component Clr CIR 4 Complement component Cls eis 4 Complement component C2 C2 4 Complement component C3 C3 4 Complement component C4A C4A 4 Complement component C4B C4B 4 Complement component C5 C5 4 Complement component C6 C6 4 Complement component C7 C7 4 Complement component C8 C8B 4 Complement component C9 C9 4 Complement component receptor 1 CR1 4 Complement component receptor 2 CR2 4 Complement component receptor 3 CR3 4 Complex I Complex II Complex III Complex III Complex V MTATP6

Coproporphyrinogen oxidase CPO CorticotropMn-releasmg hormone CRH 2 CorticotropMn-releasing hormone receptor CRHR1 2 Cortisol receptor 4 C-reactive protein CRP 4 Creatine kinase - B and m CKBE 1 Creb binding protein CREBBP 6

Cu2+ transporting ATPase alpha polypeptide ATP7A Cyclic AMP-dependent protein kinase PKA Cyclic nucleotide phosphodiesterase 1B PDE1B Cyclic nucleotide phosphodiesterase 1B1 PDE1B1 Cyclic nucleotide phosphodiesterase 2A3 PDE2A3 Cyclic nucleotide phosphodiesterase 3 A PDE3A Cyclic nucleotide phosphodiesterase 3B PDE3B Cyclic nucleotide phosphodiesterase 4A PDE4A Cyclic nucleotide phosphodiesterase 4C PDE4C Cyclic nucleotide phosphodiesterase 5 A PDE5A Cyclic nucleotide phosphodiesterase 6A PDE6A Cyclic nucleotide phosphodiesterase 6B PDE6B Cyclic nucleotide phosphodiesterase 7 PDE7 Cyclic nucleotide phosphodiesterase 8 PDE8 Cyclic nucleotide phosphodiesterase 9A PDE9A 1

Cyclm-dependent kinase 2 CDK2 6

Cyclin-dependent kinase inMbitor 2A (p 16) CDKΝ2A 6

Cyclooxygenase 1 COX1 1

Cyclooxygenase 2 COX2 1

CYP11A1 CYP11A1 1

CYP11B1 CYP11B1 1

CYP11B2 CYP11B2 1

CYP17 CYP17 1

CYP19 CYP19 1

CYPIAI CYPIAI 1

CYP1A2 CYP1A2 1

CYP1B1 CYP1B1 ^' 1

CYP21 CYP21 1

CYP24 CYP24 1

CYP27 CYP27 1

CYP27B1 PDDR 1

CYP2A1 CYP2A1 1

CYP2A13 CYP2A13 1

CYP2A3 CYP2A3 1

CYP2A6V2 CYP2A6V2 1

CYP2A7 CYP2A7 1

CYP2B6 CYP2B6 1

CYP2C18 CYP2C18 1

CYP2C19 CYP2C19 1

CYP2C8 CYP2C8 1

CYP2C9 CYP2C9 1

CYP2D6 CYP2D6 1

CYP2E1 CYP2E1 1

CYP2F1 CYP2F1 1

CYP2J2 CYP2J2 1

CYP3A3 CYP3A3 1

CYP3A4 CYP3A4 1

CYP3A5 CYP3A5 1

CYP3A7 CYP3A7 1

CYP4A11 CYP4A11 1

CYP4B1 CYP4B1 1

CYP4F2 CYP4F2 1

CYP4F3 CYP4F3 1

CYP51 CYP51 1

CYP5A1 CYP5A1 1

CYP7A CYP7A 1

CYP8 CYP8 1

CystatMonase CTH 1

CystatMone beta synthase CBS 1

Cystic fibrosis transmembrane conductance CFTR 5 regulator, CFTR Cytidine deaminase CDA

Cytidine-5 -prime-tdphosphate synthetase CTPS

CytocMome a

CytocMome b-5 CYB5

CytocMome c

CytocMome c oxidase, MTCO

Cytokine-suppressive antiinflammatory drug- CSBPl 4 binding protein I

Cytokine-suppressive antiinflammatory drug- CSBP2 4 bmding protein 2

DAX1 nuclear receptor DAX1 4

D-beta-hydroxybutyrate dehydrogenase 1

Delta 4-5 alpha-reductase 1

Desmin DES 3

Dihydrolipoamide dehydrogenase DLD 5

DNA glycosylases 1

Dopamine beta hydroxylase DBH 1

Dopamine receptors Dl DRD1 5

Dopamine receptors D2 DRD2 5

Dopamine receptors D3 DRD3 5

Dopamine receptors D4 DRD4 5

Dopamine receptors D5 DRD5 5

DystropMn DMD 3

Elastase 1 ELAS1 1

Elastase 2 ELAS2 1

Elastin ELN 3

Election-transfering-flavoprotem alpha ETFA 2

Election-transfedng-flavoprotein beta ETFB 2

Election-transferring flavoprotem ETFDH 1 dehydrogenase

Endothelm 1 EDN1 5

Endothelin 2 EDN2 5

Endothelin 3 EDN3 5

Endothelm converting enzyme ECE1 5

Endothelin receptor type A EDNRA 5

Endothelin receptor type B EDNRB 5

Enolase EN01

Enoyl CoA hydratase

Enoyl CoA isomerase

Enoyl CoA reductase

Enterokinase PRSS7,ENTK

EpMin receptor tyrosme kinase A EPHA 6

Ephrin receptor tyrosine kmase B EPHB 6

Epidermal growth factor EGF 6

Epidermal growth factor receptor EGFR 6

Epoxide hydrolase 1, microsomal EPHX1 1

Estiogen receptor ESR 6 EWS RNA-bmding protein EWSR1 6

Eyes absent 1 EYA1 6

Faciogemtal dysplasia FGD1, FGDY 2

Factor 1 (No. one) FI 4

Factor B, properdin 4

Factor D 4

Factor H HF1 4

Factor I (letter 1) IF 4

Factor III F3 4

Factor IX F9 4

Factor V F5 4

Factor VII F7 4

Factor VIII F8 4

Factor X F10 4

Factor XI Fl l 4

Factor XII F12 4

Factor XIII A & B F13A & F13B 4

Fc fragment of IgG, Mgh affimty IA, receptor FCG1A 6 for

Fc fragment of IgG, low affimty Ila, receptor FCGR2A 6 for (CD32)

Fc fragment of IgG, low affimty lila, receptor FCGR3A 6 for (CD 1 6)

Fibrillin 1 FBN1 6

Fibrinogen alpha FGA 3

Fibrinogen beta FGB 3

Fibrinogen gamma FGG 3

Fibroblast growth factor FGF1 6

Fibroblast growth factor receptor 1 FGFR1 6

Fibroblast growth factor receptor 2 FGFR2 6

Fibroblast growth factor receptor 3 FGFR3 6

Fibronectin precursor FNI 6

Flightless-II, DrosopMla homolog of FLII 6

Follicle stimulating hormone receptor FSHR, ODGI 6

Follicle stimulating hormone, FSH FSHB 6

Forkhead rhabdomyosarcoma gene FKHR 6

Fructose- 1 ,6-diphosphatase FBP1 1

Furin 2

GABA receptor, alpha 1 GABRA1 5

GABA receptor, alpha 2 GABRA2 5

GABA receptor, alpha 3 GABRA3 5

GABA receptor, alpha 4 GABRA4 5

GABA receptor, alpha 5 GABRA5 5

GABA receptor, alpha 6 GABRA6 5

GABA receptor, beta 1 GABRBI 5

GABA receptor, beta 2 GABRB2 5

GABA receptor, beta 3 GABRB3 5 GABA receptor, gamma 1 GABRG1 5

GABA receptor, gamma 2 GABRG2 5

GABA receptor, gamma 3 GABRG3 5

GABA transaminase ABAT 1

Galactocerebrosidase GALC 1

Galactosyltransferase 1 GT1 6

Galactosyltransferase, alpha 1,3 GGTA1 6

Galactosyltransferase, beta 3 B3GALT 6

Glucocorticoid receptor GRL 6

Glucokinase GCK 1

Glucosidase, acid alpha GAA 1

Glutamate dehydrogenase GLUD1 1

Giutamate receptor 1 GLUR1 5

Glutamate receptor 2 GLUR2 5

Glutamate receptor 3 GLUR3 5

Glutamate receptor 4 GLUR4 5

Glutamate receptor 5 GLUR5 5

Glutamate receptor 6 GLUR6 5

Glutamate receptor 7 GLUR7 5

Glutamate receptor, ionotropic, NMDA 1 NMDAR1 5

Glutamate receptor, ionotropic, NMDA 2A NMDAR2A 5

Glutamate receptor, ionotropic, NMDA 2B NMDAR2B 5

Glutamate receptor, ionotropic, NMDA 2C NMDAR2C 5

Glutamate receptor, ionotropic, NMDA 2D NMDAR2D 5

GlutatMone GSH 2

GlutatMone peroxidase, GPX1 GPX1

G utatMone peroxidase, GPX2 GPX2

GlutatMone reductase, GSR GSR

GlutatMone S-transferase mu 1, GSTMI GSTMI

GlutatMone S-transferase mu 4, GSTM4

GlutatMone S-transferase theta 1, GSTT1 GSTT1

GlutatMone S-transferase theta 2, GSTT2

GlutatMone S-transferase, GSTP1 GSTPI

GlutatMone S-transferase, GSTZI GSTZI

GlutatMone synthetase GSS

Glyceraldehyde-3 -phosphate GAPDH dehydrogenase, GAPDH

Glycerol kinase GK

Glycinamide ribonucleotide (GAR) GART tiansformylase

GM2 ganglioside activator protein, GM2A GM2A

Growth arrest-specifϊc homeobox GAX

Guanylyl cyclase

Haemoglobin alpha 1 HBA1 2

Haemoglobin alpha 2 HBA2 2

Haemoglobm beta HBB 2

Haemoglobin delta HBD 2 Haemoglobin gamma A HBG1 2

Haemoglobin gamma B HBG2 2

Haemoglobin gamma G HBGG 2

Heat shock protein, HSP60 4

Heat shock protein, HSP70 4

Heat shock protem, HSP90 4

Heat shock protein, HSPA1 4

Heat shock protein, HSPA2 4

Heparin binding epidermal growth factor HBEGF 6

Heparin Cofactor II HCF2 4

Hermansky-pudlak syndrome gene HPS 2

Hexokinase 1 HK1 1

Hexokinase 2 HK2 1

Hexosamimdase A HEXNTSD 1

Histamine receptors, Hl 5

Histamine receptors, H2 5

Histamine receptors, H3 5

HMG-CoA lyase HMGCL 1

HMG-CoA reductase HMGCR 1

HMG-CoA synthase HMGCS2 1

Holocarboxylase synthetase HLCS 1

Hyaluromdase 2

Hypoxia inducible factor 1 HIF1A 1

Hypoxia inducible factor 2 1

Immunoglobulin E (IgE) reponsiveness gene IGER 4

Immunoglobulin E (IgE) serum concentiation IGES 4 regulator gene

Immunoglobulin gamma (IgG) 2 IGHG2 4

Insulin INS 6

Insulin receptor INSR 6

Insulin-like growth factor 1 IGF1 6

Insulin-like growth factor 1 receptor IGF1R 6

Insulin-like growth factor 2 IGF2 6

Insulin-like growth factor 2 receptor IGF2R 6

Integrin beta 1 ITGB1 6

Integrin beta 2 ITGB2 6

Mtegrin beta 5 ITGB5 6

Integrin beta 6 ITGB6 6

Integrin, alpha M ITGAM 6

Inter-alpha-trypsin inMbitor IATI 1

Interferon alpha IFNA1 4

Interferon beta IFNB 4

Interferon gamma IFNG 4

Mterferon gamma receptor 1 IFNGR1 4

Interferon gamma receptor 2 IFNGR2 4

Mterferon regulatory factor 1 IRF1 4

Interferon regulatory factor 4 IRF4 4 lnterleukin(IL) 1 receptor IL1R 4

Interleukin(IL) 1, alpha IL1A 4

Interleuldn(IL) 1, beta IL1B 4

Mterleukin(IL) 10 IL10 4

Interleu_dn(IL) 10 receptor IL10R 4 lnterleukin(IL) 11 IL11 4

Interleukin(IL) 11 receptor IL11R 4

Interleukin(IL) 12 IL12 4

Interleukin(IL) 12 receptor, beta 1 IL12RB1 4

Interleuldn(IL) 13 IL13 4

Mterleukin(IL) 13 receptor IL13R 4

Interleukin(IL) 2 IL2 4

Interleukin(IL) 2 receptor, alpha IL2RA 4

Mterleukin(IL) 2 receptor, gamma IL2RG 4 lnterleukin(IL) 3 IL3 4 lnterleukin(IL) 3 receptor IL3R 4

Mterleukin(IL) 4 IL4 4

Interleukin(IL) 4 receptor IL4R 4 lnterleukin(IL) 5 IL5 4

Interleukin(IL) 5 receptor IL5R 4 lnterleukin(IL) 6 IL6 4

Interleukin(IL) 6 receptor IL6R 4

Interleukin(IL) 7 IL7 4

Interleukin(IL) 7 receptor IL7R 4 lnterleukin(IL) 8 IL8 4 lnterleukin(IL) 8 receptor IL8R 4 lnterleukin(IL) 9 IL9 4

Interleukin(IL) 9 receptor IL9R 4

Interleukin(IL) receptor antagomst 1 IL1RN, IL1RA 4

Isocitrate dehydrogenase 1

Kallikrein 3 KAK3 4

Kminogen, High molecular weight KNG 4

Kynuremnease 1

Lamimn 5, alpha 3 LAMA3 6

Lamimn 5, beta 3 LAMB3 6

Lamimn 5, gamma 2 LAMC2 6

Lamimn M LAMM 6

Lamimn receptor 1 LAMR1 6

Latent transforming growth factor-beta LTBP2 6 binding protein 2

LecitMn-cholesterol acyltiansferase LCAT 1

Leptin LEP 6

Leptin receptor LEPR 6

Leukotriene A4 hydrolase 4

Leukotriene A4 synthase LTA4S 1

Leukotriene B4 receptor 4

Leukotriene B4 synthase LTB4S 1 Leukotriene C4 receptor 4

Leukotriene C4 synthase LTC4S 1

Leukotriene D4/E4 receptor 4

LIM homeobox protem 1 LHX1 6

Lipoamide dehydrogenase OGDH 1

Lipoprotem lipase LPL 4

Lipoprotein receptor, Low Density LDLR 2

Lipoprotein, High Density HDLDT1 2

Lipoprotem, Intermediate Density 2

Lipoprotein, Low Density 1 2

Lipoprotein, Low Density 2 2

Lipoprotein, Very Low Density VLDLR 2

Lipoxygenase 1

Low density lipoprotein receptor-related LRP 2 protein precursor

Lymphoid enhancer-binding factor LEF-1 6

Lysosomal acid lipase LIPA 1

Lysozyme LYZ 4

MAL) (mothers against decapentaplegic, MADH4 6

DrosopMla) homologue 4

Malate dehydrogenase, mitochondrial MDH2

Malonyl CoA transferase

Mannose binding protein MBP

Mannosidase, alpha B lysosomal MANB

Mannosidase, beta A lysosomal MANBA

Matrix Gla protein MGP

Matrix metalloproteinase 1 MMP1

Matrix metalloproteinase 10 MMP10

Matrix metalloproteinase 11 MMP11

Matrix metalloproteinase 12 MMP12

Matrix metalloproteinase 13 MMP13

Matrix metalloproteinase 14 MMP14

Matrix metalloproteinase 15 MMP15

Matrix metalloproteinase 16 MMP16

Matrix metalloproteinase 17 MMP17

Matrix metalloproteinase 18 MMP18

Matrix metalloproteinase 19 MMP19

Matrix metalloproteinase 2 MMP2

Matrix metalloproteinase 3 MMP3, STMY1

Matrix metalloproteinase 4 MMP4

Matrix metalloproteinase 5 MMP5

Matrix metalloproteinase 6 MMP6

Matrix metalloprotemase 7 MMP7

Matrix metalloproteinase 8 MMP8

Matrix metalloproteinase 9 MMP9

MetMonme adenosyltransferase MAT1 A, MAT2A

Midline I MIDI Mitochondrial trifunctional protem, alpha HADHA 1 subumt

Mitochondrial trifunctional protein, beta HADHB 1 subumt

Monoamme oxidase A MAOA 1

Monoamine oxidase B MAOB 1

Muscarimc receptor, Ml CHRM1 5

Muscarimc receptor, M2 CHRM2 5

Muscarimc receptor, M3 CHRM3 5

Muscarmic receptor, M4 CHRM4 5

Muscarimc receptor, M5 CHRM5 5

Myoglobin 2

Myotubularin MTM1 3

Na+, K+ ATPase, alpha ATP1A1 6

Na+, K+ ATPase, beta 1 ATP1B1 6

Na+, K+ ATPase, beta 2 ATP1B2 6

Na+, K+ ATPase, beta 3 ATP1B3 6

NADH dehydrogenase

NADH dehydrogenase (ubiquinone) Fe-S NDUFS1 protein 1

NADH dehydrogenase (ubiquinone) Fe-S NDUFS4 protein 4

NADH dehydrogenase (ubiquinone) NDUFV1 flavoprotein 1

NADH-cytocMome b5 reductase DIA1 reductase

Nebulin NEB 3

NepMosis 1 NPHS1 2

Nerve growth factor NGF 6

Nerve growth factor receptor NGFR 6

Neuramimdase sialidase NEU 2

Neuregulm HGL 6

Neurofibromin 1 NF1 6

Neurofibromin 2 NF2 6

Neurokimn A NKNA 5

Neurokimn B NKNB 5

Neuropeptide Y NPY 5

Neuropeptide Y receptor Yl NPY1 R 5

Neuropeptide Y receptor Y2 NPY2R 5

Nitiic oxide synthase 1, NOS 1 NOSl 1

Nitric oxide synthase 2, NOS2 NOS2 1

Nitric oxide synthase 3, NOS3 NOS3 1

Notch ligand - jagged 1 JAG 1, AGS 6

Nucleoside diphosphate kinase-A NDPKA 1

Oncogene ELK1 ELK1 6

Oncogene ELK2 ELK2 6

Oncogene sis PDGFB 6 OmitMne delta-aminotransferase OAT 1 Paired box homeotic gene 6 PAX6 6 Parathyroid hormone PTH 6 Parathyroid hormone receptor PTHR1 6 Parathyroid hormone related-peptide PTHRP 6 Parathyroid hormone-like hormone PTHLH 6 Patched (DrosopMla) homolog, PTCH PTCH 6 Peroxisomal membrane protein 3 PXMP3 2 Peroxisome biogenesis factor 1 PEX1 2 Peroxisome biogenesis factor 19 PEX19 2 Peroxisome biogenesis factor 6 PEX6 2 Peroxisome biogenesis factor 7 PEX7 2 Peroxisome receptor 1 PXR1 2 Phenylalamne hydroxylase PAH Phenylalamne monooxygenase PhenylethanolammeN-methyltiansferase, PNMT PNMT

Phosphofructokinase, liver PFKL Phosphofructokinase, muscle PFKM Phosphoglucomutase Phosphoglucose isomerase GPI Phosphoglycerate kinase 1 PGK1 Phosphoglycerate mutase 2 PGAM2 Phospholipase A2, group 10 PLA2G 10 4 Phospholipase A2, group 1B PLA2G1B 4 Phospholipase A2, group 2A PLA2G2A 4 Phospholipase A2, group 2B PLA2G2B 4 Phospholipase A2, group 4A PLA2G4A 4 Phospholipase A2, group 4C PLA2G4C 4 Phospholipase A2, group 5 P 2G5 Phospholipase A2, group 6 PLA2G6 4 Phospholipase C epsilon 4 Pineolytic beta-receptors 1 Plasminogen PLG 1

Plasmmogen activator inMbitor 1 PAI 1 1 Plasminogen activator inMbitor 2 PA12 1 Plasminogen activator receptor, Urokinase UPAR;PLAUR 3 Plasminogen activator, Tissue PLAT;TPA 1 Plasminogen activator, Urokinase UPA;PLAU 1 Platelet derived growth factor PDGF 6 Platelet derived growth factor receptor PDGFR 6 Platelet-activating factor receptor PAFR 4 Potassium inwardly-rectifymg channel Jl KCNJ1 5 Potassium voltage-gated channel El KCNE1 5 Prekallikrein 4 Procollagen N-protease 1 receptor) Proliferin PLF 6

Proopiomelanocortin POMC 5

Properdin P factor, complement PFC,PFD 4

Prosaposin PSAP 5

Prostacyclin synthase 4

Prostagiandin 15 -OH dehydrogenase HGPD; PGDH 4

Prostaglandm D - DP receptor 4

Prostaglandin El receptor 4

Prostaglandin E2 receptor 4

Prostaglandin E3 receptor 4

Prostaglandin F - FP receptor 4

Prostaglandin F2 alpha receptor 4

Prostaglandin 12 receptor 2

Prostaglandin IP receptor 4

Protein C PROC 4

Protein C inMbitor PCI 4

Protein phosphatase 2, regulatory subimit A, PPP2R1B 1 beta isoform

Protein S PROS1 4

ProtMombin precursor F2 4

Pyruvate carboxylase PC

Pyruvate decarboxylase PDHA

Pyruvate kinase PKLR

Qumoid dihydropteridme reductase QDPR

Renin REN

Replication factor C RFC2

Retinoblastoma 1 RB1 6

RIGUI RIGUI 6

Salivary amylase, AMY1 2

Selectin E SELE 5

Selectin L SELL 5

Selectin P SELP 5

Sedne hydroxymethyltransferase SHMT 1

Serotomn receptor, 5HT1 A HTR1A 5

Serotomn receptor, 5HT1B HTR1B 5

Serotomn receptor, 5HT1C HTR1C 5

Serotomn receptor, 5HT1 D HTR1D 5

Serotomn receptor, 5HT1 E HTR1E 5

Serotomn receptor, 5HT1 F HTR1F 5

Serotomn receptor, 5HT2A HTR2A 5

Serotonin receptor, 5HT2B HTR2B 5

Serotomn receptor, 5HT2C HTR2C 5

Serotomn receptor, 5HT3 HTR3 5

Serotomn receptor, 5HT4 HTR4 5

Serotomn receptor, 5HT5 HTR5 5

Serotonin receptor, 5HT6 HTR6 5

Serotomn receptor, 5HT7 HTR7 5 Sodium channel, non-voltage gated 1, alpha SCNN1A 5

Sodium channel, non-voltage gated 1, beta SCNN1B 5

Sodium channel, non-voltage gated 1, SCNN1G 5 gamma

Sodium channel, voltage gated, type IV, SCN4A 5 alpha polypeptide

Sodium channel, voltage-gated, type 1, beta SCN1B 5 polypeptide

Solute carrier family 21, member 2 SLC21A2 2

Solute carrier family 4 (amon exchanger), SLC4A1 2 member 1

Solute carrier family 4 (amon exchanger), SLC4A2 2 member 2

Solute carrier family 4 (amon exchanger), SLC4A3 2 member 3

Solute carrier family 6 (GAMMA- SLC6A1 2

AMINOBUTYRIC ACID transporter), member 1

Solute carrier family 6 (neurotransmitter SLC6A3 2 transporter, dopamine), member 3

Solute carrier family 6 (neurotransmitter SLC6A2 2 transporter, noradrenaline), member 2

Somatostatin receptor, SSTR2 SSTR2 6

SpMngomyelinase SMPD1 1

Substance P 5

Succinate dehydrogenase 2 SDH2

Succinate tiiiokinase

Succmyl CoA synthase

Superoxide dismutase 1 SOD1

Superoxide dismutase 3 SOD3

Surfactant pulmonary-associated protem AI SFTPA1 2

Surfactant pulmonary-associated protein A2 SFTPA2 2

Surfactant pulmonary-associated protein B SFTPB 2

Surfactant pulmonary-associated protein C SFTPC 2

Surfactant puimonary-associated protein D SFTPD 2

Surfeit 1 SURF1 6

Survival of motor neuron 1, telomeric SMN1 2

Talin TLN 6

T-BOX 2 TBX2 6

T-BOX 3 TBX3 6

TEK, tyrosine kinase, endothelial TEK 1

Telomerase protem component 1

TMolase, perioxisomal 1

TMombin receptor F2R 4

TMombomodulin THBD 4

TMombopoietin THPO 6

TMombospondin THBS1 6

TMomboxane A synthase 1 TBXAS1 4 TMomboxane A2 TXA2 4

TMomboxane A2 receptor TBXA2R 4

Thyroglobulin TG 6

Thyroid hormone receptor, alpha THRA 6

Thyroid hormone receptor, beta THRB 6

Thyroid peroxidase TPO 6

Thyroid receptor auxiliary protein TRAP 6

Thyroid-stimulating hormone receptor TSHR 6

Thyroid-stimulating hormone, alpha TSHA 6

Thyroid-stimulating hormone, beta TSHB 6

Thyrotropin releasing hormone receptor TRHR 6

Topoisomerase I 1

Transacylase 1

Transferrin TF 6

Transferrin receptor TFRC 6

Transforming growth factor, beta 2 TGFB2 6

Transforming growth factor, beta induced TGFBI 6

Transforming growth factor, beta receptor 2 TGFBR2 6

Transketolase TKT 1

Transketolase-like 1 TKTL1 1

Triosephosphate isomerase TPI 1 1

Trypsin inMbitor 1

Uncoupling protein I 2

Uroporphyrinogen III synthase UROS 1

Vasoactive intestinal polypeptide receptor VIPR 5

VasoinMbitory peptide 6

Vitronectin receptor, alpha VNRA 2

Von Hippel-Lmdau gene VHL 6

Wolf-Hirschhom syndrome candidate 1 gene WHSC1 6

XantMne dehydrogenase XDH 1

Legende ftir die Spalte Proteinfunktion:

1 Enzym 2 Transport und Lagerung

3 Struktur 4 Immumtät

5 Nervale Transmission 6 Wachstum und Differenzierung

Tabelle 11

Verletzung, Entzündung, Infektion, Immunität und/oder Rekonvaleszenz

Liste der Gene HUGO Protein¬

Gensymbol funktion

5,10-Methylenetetrahydrofolate reductase MTHFR 1

(NADPH)

Acetylcholmesterase ACHE 1

Acidic amino acid transporter 2

Actin, alpha, cardiac ACTC 3

Actin, alpha, skeletal ACTAL 3

Actin, alpha, smooth, aortic ACTA2 3

Actin, beta ACTB 3

Actin, gamma 2 ACTG2 3

ADAM (A disintegrin and metalloproteinase) 1 ADAM 1

ADAM (A disintegrm and metalloproteinase) 10 ADAM 10

ADAM (A disintegrin and metalloproteinase) 11 ADAM 11

ADAM (A disintegrin and metalloproteinase) 12 ADAM 12

ADAM (A disintegrin and metalloproteinase) 13 ADAM 13

ADAM (A disintegrin and metalloproteinase) 14 ADAM 14

ADAM (A disintegrin and metalloprotemase) 15 ADAM 15

ADAM (A disintegrm and metalloproteinase) 16 ADAM 16

ADAM (A disintegrin and metalloproteinase) 17 ADAM 17

ADAM (A disintegrm and metalloproteinase) 18 ADAM 18

ADAM (A disintegrin and metalloproteinase) 19 ADAM 19

ADAM (A disintegrin and metalloproteinase) 2 ADAM 2

ADAM (A disintegrin and metalloprotemase) 3 A ADAM 3A

ADAM (A disintegrin and metalloproteinase) 3B ADAM 3B

ADAM (A disintegrin and metalloproteinase) 4 ADAM 4

ADAM (A disintegrin and metalloproteinase) 5 ADAM 5

ADAM (A disintegrin and metalloprotemase) 6 ADAM 6

ADAM (A disintegrm and metalloproteinase) 7 ADAM 7

ADAM (A disintegrin and metalloproteinase) 8 ADAM 8

ADAM (A dismtegrm and metalloproteinase) 9 ADAM 9

Adducin, alpha ADD1 3

Adducin, beta ADD2 3

Adenosine deammase ADA 1

Adenosme receptor AI ADORA1 5

Adenosine receptor A2A ADORA2A 5

Adenosine receptor A2B ADORA2B 5

Adenosme receptor A3 ADORA3 5

Adenylate cyclase 1 ADCY1

Adenylate cyclase 2 ADCY2

Adenylate cyclase 3 ADCY3

Adenylate pyclase 4 ADCY4

Adenylate cyclase 5 ADCY5 Adenylate cyclase 6 ADCY6 1

Adenylate cyclase 7 ADCY7 1

Adenylate cyclase 8 ADCY8 1

Adenylate cyclase 9 ADCY9 1

Adrenergic receptor, alphal ADRA1 5

Adrenergic receptor, alpha2 ADRA2 5

Adrenergic receptor, betal ADRB1 5

Adrenergic receptor, beta2 ADRB2 5

Adrenergic receptor, beta3 ADRB3 5

AdrenocorticotropMc hormone (ACTH) ACTHR 6 receptor

Albumin, ALB ALB 2

Aldosterone receptor MLR 6

Alpha 1 acid glycoprotem AAG, AGP 2

Alpha 2 macroglobulin A2M 4 alphal-antitrypsin Pi 1 alpha2-antiplasmin PLI 1

Alpha-fetoprotein AFP 6 alpha-glucosidase, neutral AB GANAB 1 alpha-glucosidase, neutral C GANG 1

Aminopeptidase P XPNPEP2 1

Amylo- 1 ,6-glucosidase AGL 1

Amyloid beta A4 precursor protein APP 5

Amyloid beta A4 precursor-like protein APLP 5

Androgen binding protein ABP 2

Androgen receptor AR 6

Angiopoietin 1 ANGPT1 6

Angiopoietin 2 ANGPT2 6

Angiotensin converting enzyme ACE,DCPI 1

Angiotensin receptor 1 AGTRL 2

Angiotensin receptor 2 AGTR2 2

Anglotensinogen AGT 1

Annexin I ANX 1 4

Antidiuretic hormone receptor ADHR 2

Anti-Mullerian hormone AMH 6

AntitMombin III AT3 1

Apaf-1 3

Apolipoprotem E APOE 2

Apoptosis antigen 1 APT1 4

Apoptosis antigen ligand 1 APT1LG1 4

Apoptosis-inducing factor AIF 4

Arginosuccinate lyase ASL 1

Aryi hydrocarbon receptor AHR 2

Asparagine synthetase AS 1

Aspartylglucosamimdase AGA 1

Ataxia telangiectasia complementation group D ATD, ATDC 6

Ataxia telangiectasia gene, AT ATM 6 ATP-binding cassette transporter 7 ABC7 4

Attractin 4

Autoimmune regulator, AIRE AIRE 4

B-cell CLL/lymphoma 1 BCL1 4

B-cell CLL/lymphoma 10 BCL10 4

B-cell CLL/lymphoma 3 BCL3 4

B-cell CLL/lymphoma 4 BCL4 4

B-cell CLL/lymphoma 5 BCL5 4

B-cell CLL/lymphoma 6 BCL6 4

B-cell CLUlymphoma 7 BCL7 4

B-cell CLL/lymphoma 8 BCL8 4

B-cell CLL/lymphoma 9 BCL9 4

BCL2-associated X protein BAX 6

BCL2-related protein AI BCL2A1 6

Beckwith-Wiedemann region 1 A BWR1A 6 beta 2 Microglobulm B2M 4

Bleomycin hydrolase BLMH 1

Bloom syndrome protein BLM 6

Bradykimn receptor Bl

Bradykimn receptor B2

Brain derived neurotrophic factor BDNF 6

Brain derived neurotropMc factor (BDNF) BDNFR 6 receptor

BRCAI -associated RING domain gene 1 BARD1 6

Breakpoint cluster region BCR 6

Breast cancer I BRCAL 6

Breast cancer 2 BRCA2 6

Breast cancer, ductal, 1 BRCD1 6

Breast cancer, ductal, 2 BRCD2 6

Butyrylcholinesterase BCHE 1

C3 convertase 1

Cadherin E CDH1 6

Cadherin EP 6

Cadherin N CDH2 6

Cadherin P CDH3 6

Calbindin 1 CALB1 6

CalbmdmD9K CALB3 6

Calcineurin AI CALNA1 4

Calcineurin A2 CALNA2 4

Calcineurin A3 CALNA3 4

Calcineurin B 4

Calcitomn receptor /Calcitomn gene-related CALCR 5 peptide receptor

Calcitomn/Calcitonin gene-related peptide CALCA 5 alpha

Calcium channel, voltage-dependent, Alpha IF CACNA1F 5 submiit Calcium channel, voltage-dependent, Alpha- CACNA1B

1B (CACNL1A5)

Calcium Channel, voltage-dependent, Alpha- CACNA1C

1C

Calcium Channel, voltage-dependent, Alpha- CACNA1D

1D

Calcium channel, voltage-dependent, Alpha- CACNA1E

1E (CACNL1A6)

Calcium Channel, voltage-dependent, Alpha- CACNA2

2/delta

Calcium Channel, voltage-dependent, Beta 1 CACNB1 5

Calcium Channel, voltage-dependent, Beta 3 CACNB3 5

Calcium chamiel, voltage-dependent, L type, CACNA1S 5 alpha IS subunit

Calcium Channel, voltage-dependent, CACNG2

Neuronal, Gamma

Calcium Channel, voltage-dependent, P/Q CACNA1A type, alpha 1A submiit

Calcium Channel, voltage-dependent, T-type 5

Calmodulin 1 CALM1 6

Calmodulin 2 CALM2 6

Calmodulin 3 CALM3 6

Cahnodulm-dependant protein kinase II CAMK2A 6

Calnexin CANX 6

Calpain CAPN,CAPN3 1

Calretinin CALB2 5

Canalicular multispecific orga c amon CMOAT 2 transporter

Carbomc anhydrase 3 CA3

Carbomc anhydrase 4 CA4

Carbomc anhydrase, alpha CA1

Carbomc anhydrase, beta CA2

Carboxylesterase 1 CES1

Cardiac-specific homeobox, CSX CSX 6

Cartilage-hair hypoplasia gene CHH 5

Caspase 1 CASP1 6

Catalase CAT 4

Cathepsm G CTSG 1

CD1 CD1 4

CD10 CD10 4

CD100 CD 100 4

CD112 CD112 4

CD113 CD113 4

CD114 CD114 4

CD115 CD115 4

CD116 CD116 4

CD117 CD117 4 oooopooooooπo oooπoooooπoooooooooooooooooπooooo ööüöööüöööööö ö w o Φ oo >j υi ω to o oo i m

oQooπr- pooooooooooπoooπoooooooooooooooooπooooo

₄__ ^j^ ₄__ .^|_- 4^ 4^ 4^ 4^ ^ ^ ^ ^ ^ ^ ^ 4^ ^ 4^ 4^ ^ .^ ^ 4^ ^ ^ ^ .^ 4^ ^

CD65 CD65 4

CD66 CD66 4

CD67 CD67 4

CD68 CD68 4

CD69 CD69 4

CD7 CD7 4

CD70 CD70 4

CD71 CD71 4

CD72 CD72 4

CD73 CD73 4

CD74 CD74 4

CD75 CD75 4

CD76 CD76 4

CD77 CD77 4

CD78 CD78 4

CD79 CD79 4

CD8 CD8 4

CD80 CD80 4

CD81 CD81 4

CD83 CD83 4

CD84 CD84 4

CD85 CD85 4

CD86 CD86 4

CD88 CD88 4

CD89 CD89 4

CD9 CD9 4

CD90 CD90 4

CD91 CD91 4

CD92 CD92 4

CD93 CD93 4

CD94 CD94 4

CD96 CD96 4

CD97 CD97 4

CD98 CD98 4

CD99 CD99 4

Cell adhesion molecule, mtercellular, ICAM ICAM1 6 Cell adhesion molecule, leukocyte-endothelial, LECAM1 6

LECAM (CD62)

Cell adhesion molecule, liver, ICAM LCAM 6

Cell adhesion molecule, neural, NCAMl NCAMl 6

Cell adhesion molecule, neural, NCAM2 NCAM2 6

Cell adhesion molecule, platelet-endothelial, PECAMl 6

PECAM

Cell adhesion molecule, vascular, VCAM VCAMl 6 Chediak-HigasM syndrome 1 gene CHSl 2 Chemokine MCAF MCAF 4

Chemoldne receptor CCR2 CCR2 4 Chemokine receptor CCR3 CCR3 4

Chemokine receptor CCR5 CCR5 4

Chemokine receptor CXCRI CXCRI 4

Chemokine receptor CXCR2 CXCR2 4

Chemokine receptor CXCR4 CXCR4 4

Cholesteryiester hydrolase 4

Chondritin Sulphate A - placental receptor 4

CMomogranin A CHGA 6

Chymase CHY1

Clatlirin 2

CoA transferase 1

Collagen I alpha 1 COL1A1 3

Collagen I alpha 2 COL1A2 3

Collagen II alpha 1 COL2A1 3

Collagen III alpha 1 COL3A1 3

Collagen IV alpha 1 COL4A1 3

Collagen IV alpha 2 COL4A2 3

Collagen IV alpha 3 COL4A3 3

Collagen IV alpha 4 COL4A4 3

Collagen IV alpha 5 COL4A5 3

Collagen IV alpha 6 COL4A6 3

Collagen IX alpha 2 COL9A2, EDM2 3

Collagen IX alpha 3 COL9A3 3

Collagen receptor COLR 3

Collagen V alpha 1 COL5A1 3

Collagen V alpha 2 COL5A2 3

Collagen VI alpha 1 COL6A1 3

Collagen VI alpha 2 COL6A2 3

Collagen VI alpha 3 COL6A3 3

Collagen VII alpha 1 COL7A1 3

Collagen X alpha 1 COL10A1 3

Collagen XI alpha 1 COLI 1 AI 3

Collagen XI alpha 2 COL11A2 3

Collagen XVII alpha l COLL 7A1 3

Coliagemc-like tail subumt of asymmetric COLQ 1 acetylcholinesterase

Colony-stimulatmg factor I CSF1 6

Colony-stimulating factor 1 receptor CSF1R 6

Colony-stimulatmg factor 2 CSF2 6

Colony-stimulating factor 2 alpha receptor CSF2RA 6

Colony-stimulatmg factor 2 beta receptor CSF2RB 6

Colony-stimulating factor 3 CSF3 6

Colony-stimulatmg factor 3 receptor CSF3R 6

Complement component Cl mMbitor C1NH 4

Complement component Clqa CIQA 4

Complement component Clqb CLQB 4

Complement component Clqg CIQG 4 Complement component Clr CIR 4 Complement component Cls eis 4 Complement component C2 C2 4 Complement component C3 C3 4 Complement component C4A C4A 4 Complement component C4B C4B 4 Complement component C5 C5 4 Complement component C6 C6 4 Complement component C7 C7 4 Complement component C8 C8B 4 Complement component C9 C9 4 Complement component receptor 1 CR1 4 Complement component receptor 2 CR2 4 Complement component receptor 3 CR3 4 Contactin CNTN1 6

Core-binding factor, alpha 1 CBFA1 6 Core-binding factor, alpha 2 CBFA2 6 Core-binding factor, beta CBFB 6 Cortico-steroid bmding protem 2 Corticosteroid nuclear receptor 4 CorticotropMn-releasing hormone CRH 2 Corticotiophin-releasing hormone receptor CRHR1 2 Cortisol receptor C-reactive protem CRP c-src tyrosme kinase CSK 6

Cyclic AMP response element binding protein CREB 6 Cyclic AMP-dependent protein kinase PKA Cyclic nucleotide phosphodiesterase 1B PDE1B Cyclic nucleotide phosphod iesterase IBl PDE1B1 Cyclic nucleotide phosphodiesterase 2A3 PDE2A3 Cyclic nucleotide phosphodiesterase 3A PDE3A Cyclic nucteotide phosphodiesterase 3B PDE3B Cyclic nucleotide phosphodiesterase 4A PDE4A Cyclic nucleotide phosphodiesterase 4C PDE4C Cyclic nucleotide phosphodiesterase 5 A PDE5A Cyclic nucleotide phosphodiesterase 6A PDE6A Cyclic nucleotide phosphodiesterase 6B PDE6B Cyclic nucleotide phosphodiesterase 7 PDE7 Cyclic nucleotide phosphodiesterase 8 PDE8 Cyclic nucleotide phosphodiesterase 9A PDE9A Cyclm D CCND1 6

Cyclin-dependent kinase 1 CDK1 6 Cyclm-dependent kinase 10 CDK10 6 Cyclin-dependent kinase 2 CDK2 6 Cyclm-dependent kinase 3 CDK3 6 Cyclin-dependent kinase 4 CDK4 6 Cyclin-dependent kinase 5 CDK5 6 Cyclin-dependent kinase 6 CDK6 6

Cyclin-dependent kinase 7 CDK7 6

Cyclm-dependent kinase 8 CDK8 6

Cyclin-dependent kinase 9 CDK9 6

Cyclm-dependent kinase inMbitor 1 A (P21, CDKN1A 6

CIPI)

Cyclm-dependent kinase inMbitor 1 B (P27, CDKN 1B 6

KIP1)

Cyclm-dependent kinase inMbitor 1 C (P57, CDKN1C 6

KIP2)

Cyclin-dependent kinase inMbitor 2A (pl 6) CDKN2A 6

Cyclin-dependent kinase inMbitor 3 CDKN3 6

Cyclooxygenase 1 COX1

Cyclooxygenase 2 COX2

CyclopMlin 4

CYP11A1 CYP11A1

CYP11B1 CYP11B1

CYP11B2 CYP11B2

CYP17 CYP17

CYP19 CYP19

CYPIAI CYPIAI

CYP1A2 CYP1A2

CYP1B1 CYP1B1

CYP21 CYP21

CYP24 CYP24

CYP27 CYP27

CYP27B1 PDDR

CYP2A1 CYP2A1

CYP2A13 CYP2A13

CYP2A3 CYP2A3

CYP2A6V2 CYP2A6V2

CYP2A7 CYP2A7

CYP2B6 CYP2B6

CYP2C18 CYP2C18

CYP2C19 CYP2C19

CYP2C8 CYP2C8

CYP2C9 CYP2C9

CYP2D6 CYP2D6

CYP2E1 CYP2E1

CYP2F1 CYP2F1

CYP2J2 CYP2J2

CYP3A3 CYP3A3

CYP3A4 CYP3A4

CYP3A5 CYP3A5

CYP3A7 CYP3A7

CYP4A11 CYP4A11

CYP4B1 CYP4B1 CYP4F2 CYP4F2 1

CYP4F3 CYP4F3 1

CYP51 CYP51 1

CYP5A1 CYP5A1 1

CYP7A CYP7A 1

CYP8 CYP8 1

CystatMonase CTH 1

CystatMone beta synthase CBS 1

Cystic fibrosis transmembrane conductance CFTR 5 regulator, CFTR

Cytidine deaminase CDA 1

Cytidine-5-prime-triphosphate synthetase CTPS 1

CytocMome a 1

CytocMome c 1

CytocMome c oxidase, MTCO 1

Cytokine-suppressive antiinflammatory drug- CSBPl bmding protein 1

Cytokine-suppressive antiinflammatory drug- CSBP2 4 binding protein 2

Defender against cell death 1 DADl 6

Deleted in colorectal carcinoma DCC 6

Deoxycorticosterone (DOC) receptor 1

Deoxycytidine kinase DCK 1

Dihydrolipoyl dehydrogenase 2 PDHA 1

Dihydrolipayl transacetylase PDHA 1

Dopamine receptors Dl DRD1 5

Dopamine receptors D2 DRD2 5

Dopamine receptors D3 DRD3 5

Dopamine receptors D4 DRD4 5

Dopamine receptors D5 DRD5 5

Duffy blood group FY 2

Dynamin DNM1 6

EB1 6

Elastase 1 ELAS1 1

Elastase 2 ELAS2 1

Endoglin ENG 3

Endo-P-D-glucuromdase 4

Enolase ENO1 1

ErytMoid kruppel-like factor EKLF 6

ErytMopoietin EPO 4

ErytMopoietin receptor EPOR 4

Estiogen receptor ESR 6

EWS RNA-binding protein EWSR1 6

Factor 1 (No. one) FI 4

Factor B, properdm 4

Factor D 4

Factor H HF1 4 Factor I (letter I) IF 4

Factor III F3 4

Factor IX F9 4

Factor V F5 4

Factor VII F7 4

Factor VIII F8 4

Factor X F10 4

Factor XI Fll 4

Factor XII F12 4

Factor XIII A & B F13A & F13B 4

Fancom anemia, complementation group C FANCC 2

Fancom anemia, complementation group D FANCD 2

Fc fragment of IgG, low affimty Ila, receptor for FCGR2A 6

(CD32)

Fc receptor 4

Fibrinogen alpha FGA 3

Fibrinogen beta FGB 3

Fibrinogen gamma FGG 3

Fibronectin precursor FN1 6

Follicle stimulating hormone receptor FSHR,ODGl 6

Follicle stimulating hormone, FSH FSHB 6

Follicular lymphoma variant translocation 1 FVT1 4

Forkhead rhabdomyosarcoma gene FKHR 6

Forkhead transcription factor 7 FKHL7 6

Galactosyltransferase 1 GT1 6

Galactosyltransferase, alpha 1,3 GGTA1 6

Galactosyltransferase, beta 3 B3GALT 6

Glial-cell derived neurotropMc factor (GDNF) 5 receptor

Glial-cell derived neurotropMc factor, GDNF GDNF 5

Glucosaminyl (N-acetyl) transferase 2, 1- GCNT2 1 brancMng enzyme

Glutamate receptor 1 GLUR1 5

Glutamate receptor 2 GLUR2 5

Glutamate receptor 3 GLUR3 5

Glutamate receptor 4 GLUR4 5

Glutamate receptor 5 GLUR5 5

Glutamate receptor 6 GLUR6 5

Glutamate receptor 7 GLUR7 5

Glutamate receptor, ionotropic, NMDA 1 NMDAR1 5

Glutamate receptor, ionotropic, NMDA 2A NMDAR2A 5

Glutamate receptor, ionotropic, NMDA 2B NMDAR2B 5

Glutamate receptor, ionotropic, NMDA 2C NMDAR2C 5

Glutamate receptor, ionotropic, NMDA 2D NMDAR2D 5

Glutamine synthase 1

GlutatMone GSH 2

GlutatMone peroxidase, GPX1 GPX1 1 GlutatMone peroxidase, GPX2 GPX2

GlutatMone S-transferase mu 1, GSTMI GSTMI

GlutatMone S-transferase mu 4, GSTM4

GlutatMone S-transferase, GSTZI GSTZI

Glyceraldehyde-3 -phosphate dehydrogenase, GAPDH

GAPDH

Glycerol kinase GK

Glycmamide ribonucleotide (GAR) GART transformylase

Glycophorin A GYPA 3

Glycophorin B GYPB 3

Glycophorin C GYPC 3

Glycosyltiansferases, ABO blood group ABO 1

Glypican 3 GPC3, SDYS 6

Gonadotropin releasing hormone receptor GNRHR 6

Growth-regulated protein precursor, GRO GRO 4

Guamne nucleotide-binding protein, alpha GNAI1 5 mMbiting activity polypeptide 1, GNAI1

Guamne nucleotide-binding protein, alpha GNAI2 inMbiting activity polypeptide 2, GNAI2

Guamne nucleotide-binding protein, alpha GNAI3 inMbiting activity polypeptide 3, GNAI3

Guamne nucleotide-bindmg protein, alpha GNAS1 5 stimulating activity polypeptide, GNAS1

Guamne nucleotide-bmding protein, alpha GNAS2 5 stimulating activity polypeptide, GNAS2

Guamne nucleotide-binding protein, alpha GNAS3 5 stimulating activity polypeptide, GNAS3

Guamne nucleotide-binding protein, alpha GNAS4 5 stimulating activity polypeptide, GNAS4

Guamne nucleotide-binding protein, q GNAQ 5 polypeptide

H(+), K(+) - ATPase ATP4B 5

Haemoglobm alpha 1 HBA1 2

Haemoglobin alpha 2 HBA2 2

Haemoglobin beta HBB 2

Haemoglobin delta HBD 2

Haemoglobin gamma A HBG1 2

Haemoglobm gamma B HBG2 2

Haemoglobin gamma G HBGG 2

Haptoglobin, alpha 1 HPA1 4

Haptoglobin, alpha 2 HPA2 4

Haptoglobin, beta HPB 4

HemocMomatosis HFE 2

Heparin binding epidermal growth factor HBEGF 6

Heparin Cofactor 11 HCF2 4

Hepatitis B virus integration site 1 HVBS1 4 Hepatitis B virus Integration site 2 HVBS6 4

High mobility group protein C HMGIC 6

High mobility group protem Y HMGIY 6

Histamine receptors, Hl 5

Histamine receptors, H2 5

Histamine receptors, H3 5

Histatin 1 4

Histatin 2 4

Histatin 3 HTN3 4

HLA-B associated transcript 1 BAT1 4

Holocarboxylase synthetase HLCS 1

Homeobox II HOX11 6

Homeobox HB24 HLX1 6

IC7 A and B 4

Ikaros gene IKAROS 6

Immunoglobulm alpha (IgA) IGHA 4

Immunoglobulin delta (IgD) IGHD 4

Immunoglobulin E (IgE) reponsiveness gene IGER 4

Immunoglobulin E (IgE) serum concentration IGES 4 regulator gene

Immunoglobulin epsilon (IgE) IGHE 4

Immunoglobulin gamma (IgG) 2 IGHG2 4

Immunoglobulin heavy mu chain IGHM 4

Immunoglobulm J polypeptide IGJ 4

Immunoglobulin kappa constant region IGKC 4

Immunoglobulm kappa variable region IGKV 4

Insulin-like growth factor 1 IGF1 6

Insulin-like growth factor 1 receptor IGF1R 6

Insulin-like growth factor 2 IGF2 6

Insulin-like growth factor 2 receptor IGF2R 6

Integrin beta 1 ITGB1 6

Integrin beta 2 ITGB2 6

Integrin beta 3 ITGB3 6

Integrin beta 4 ITGB4 6

Integrin beta 5 ITGB5 6

Mtegrin beta 6 ITGB6 6

Integrin beta 7 ITGB7 6

Integrin, alpha 1 ITGAI 6

Integrin, alpha 2 ITGA2 6

Integrin, alpha 4 ITGA4 6

Integrin, alpha 5 ITGA5 6

Integrin, alpha 6 ITGA6 6

Mtegrin, alpha M ITGAM 6

Intercellular adhesion molecule 1 ICAM1 4

Intercellular adhesion molecule 2 ICAM2 4

Intercellular adhesion molecule 3 ICAM3 4

Interferon alpha IFNA1 4 Interferon beta IFNB 4 Mterferon gamma IFNG 4 Interferon gamma receptor 1 IFNGR1 4 Interferon gamma receptor 2 IFNGR2 ^• 4 Interferon regulatory factor 1 IRF1 4 Interferon regulatory factor 4 IRF4 4 Interleukin(IL) 1 receptor IL1R 4 Interleukin(IL) 1, alpha IL1A 4 Interleukin(IL) 1, beta IL1B 4 lnterleukin(IL) 10 IL10 4 Mterleukin(IL) 10 receptor IL10R 4 Interleukin(IL) 11 IL11 4 Interleukin(IL) 11 receptor IL11R 4 Interleukin(IL) 12 IL12 4 Interleukin(IL) 12 receptor, beta 1 IL12RB1 4 lnterleukin(IL) 13 IL13 4 Interleukin(IL) 13 receptor IL13R 4 Interleukin(IL) 2 IL2 4 Mterleukin(IL) 2 receptor, alpha IL2RA 4 lnterleukin(IL) 2 receptor, gamma IL2RG 4 Interleukin(IL) 3 IL3 4 Interleu_dn(IL) 3 receptor IL3R 4 Mterleuldn(IL) 4 IL4 4 lnterleukin(IL) 4 receptor IL4R 4 lnterleukin(IL) 5 IL5 4 Interleukin(IL) 5 receptor IL5R 4 lnterleukin(IL) 6 IL6 4 lnterleukm(IL) 6 receptor IL6R 4 terleukinQL) 7 IL7 4 lnterleukin(IL) 7 receptor IL7R 4 Interleukin(IL) 8 IL8 4 Interleukin(IL) 8 receptor IL8R 4 lnterleukin(IL) 9 IL9 4 Mterleukin(IL) 9 receptor IL9R 4 Interleukin(IL) receptor antagomst 1 IL1RN, IL1RA 4 Janus kinase 1 JAK1 6 Janus kinase 2 JAK2 6 Janus kinase 3 JAK3 6 Kallikrein 3 KAK3 4

Kell blood group precursor XK, KEL 2 Kimnogen, High molecular weight KNG 4 Kynuremnease 1 Lactotransferrin LTF 2 Lamimn 5, alpha 3 LAMA3 6 Lamimn 5, beta 3 LAMB3 6 Lamimn 5, gamma 2 LAMC2 6 LamininM LAMM 6 Lamimn receptor 1 LAMR1 6

Latent transforming growth factor-beta bmding LTBP2 6 protein 2

Lectin, mannose-binding 1 LMAN1 4

Lectin, mannose-binding 2 MBL2 4

Leptin LEP 6

Leptin receptor LEPR 6

Leukaemia inMbitory factor LIF 6

Leukaemia inMbitory factor receptor LIFR 6

Leukin 4

Leukocyte-specific tianscript I LST-1 4

Leukotriene A4 hydrolase 4

Leukotriene A4 synthase LTA4S 1

Leukotriene B4 receptor 4

Leukotriene B4 synthase LTB4S 1

Leukotriene C4 receptor 4

Leukotriene C4 synthase LTC4S 1

Leukotriene D4/E4 receptor 4

LIM homeobox protem 1 LHX1 6

LIM homeobox protein 2 LHX2 6

LIM homeobox protein 3 LHX3 6

LIM homeobox protein 4 LHX4 6

LIM-domain oMy protem 1 LM01 6

LIM-domain oMy protein 2 LM02 6

LIM-domain oMy protein 3 LM03 6

LIM-domain oMy protein 4 LM04 6

LIM-Kinase I (LINK-1) 4

Lipocortin 1 ANX4 4

Lipoprotein-associated coagulation factor LACI 4

Lipoxygenase 12 (platelets) LOG12 4

Lipoxygenase 5 (leukocytes) 4

Lymphoblastic leukemia derived sequence 1 LYLL 4

Lymphocyte-specific protem tyrosine Mnase LCK 4

Lymphoid enhancer-binding factor LEF-1 6 lymphotoxin 4

Lysozyme LYZ 4

Macrophage activating factor MAF 4

Macrophage inflammatory protem- 1 MIP1 . 4

Macrophage inflammatory protein- 1 receptor 4

Macrophage inflammatory protem-2 MIP2 4

Macrophage inflammatory protem-2 receptor

MAD (mothers agamst decapentaplegic, MADH3 6

DrosopMla) homologue 3

MAD (mothers against decapentaplegic, MADH4 6

DrosopMla) homologue 4

Malignant proliferation, eosinopMl gene MPE 4

Mannose binding protein MBP 4 Mannosidase, alpha B lysosomal MANB 1

Marenostrin MEFV 2

Matrix metalloproteinase 1 MMP1

Matrix metalloproteinase 10 NMP10

Matrix metalloproteinase 11 MMP11

Matrix metalloproteinase 12 MMP12

Matrix metalloproteinase 13 MMP13

Matrix metalloproteinase 14 MMP14

Matrix metalloprotemase 15 MMP15

Matrix metalloprotemase 16 MMP16

Matrix metalloproteinase 17 MMP17

Matrix metalloproteinase 18 MMP18

Matrix metalloproteinase 19 MMP19

Matrix metalloprotemase 2 MMP2

Matrix metalloprotemase 3 MMP3, STMY1

Matrix metalloproteinase 4 MMP4

Matrix metalloprotemase 5 MMP5

Matrix metalloproteinase 6 MMP6

Matrix metalloproteinase 7 MMP7

Matrix metalloproteinase 8 MMP8

Matrix metalloprotemase 9 MMP9

MHC Class I: A 4

MHC Class I: B 4

MHC Class I: C 4

MHC Class I: LMP-2, LMP-7 4

MHC Class I: Tapl ABCR,TAP1 4

MHC Class II: DP HLA-DPB1 4

MHC Class II: DQ 4

MHC Class II: DR 4

MHC Class II: Tap2 TAP2,PSF2 4

MHC Class ILComplementation group A MHC2TA 4

MHC Class ILComplementation group B RFXANK 4

MHC Class ILComplementation group C RFX5 4

MHC Class ILComplementation group D RFXAP 4

Monocyte chemoattractant protein I MCP1

Mucin 18 MUC18 2

Mutated in colorectal cancers, MCC MCC 6

MutL homolog 1 MLH1 6

MutS homolog 2 MSH2 6

MutS homolog 3 MSH3 6

Myeloid leukemia factor- 1 MLF1

Myeloperoxidase MPO

Myoglobin 2

Myosin 5A MY05A 3

N-acyl hydrolase 4

NADPH oxidase 4 reductase Natural resistance-associated macrophage NRAMP1 4 protem 1

NB6 4

Nerve growth factor NGF 6

Nerve growth factor receptor NGFR 6

Neurofibromin 1 NF1 6

Neurofibromin 2 NF2 6

Neurokimn A NKNA 5

Neurokimn B NKNB 5

Neuropeptide Y NPY 5

Neuropeptide Y receptor Yl NPY1R 5

Neuropeptide Y receptor Y2 NPY2R 5

Neutral endopeptidase 1

NeutiopMl cystolic factor 1 NCF1 4

NeutiopMl cystolic factor 2 NCF2 4

Nitric oxide synthase 1, NOSl NOSl 1

Nitiic oxide synthase 2, NOS2 NOS2 1

Nitric oxide synthase 3, NOS3 NOS3 1

Norrie disease protein NDP 6

Notch 3 NOTCH3 6

Notch ligand -jagged 1 JAG 1, AGS 6

Nuclear factor 1-kappa-B-like gene IKBL 4

Nuclear factor kappa beta NFKB 4

Nuclear factor of activated T cells (NFAT) NFATC 6 complex, cytosolic

Nuclear factor of activated T cells (NFAT) NFATP complex, preexisting component

Nucleoside diphosphate kinase-A NDPKA 1

Oncogene bcI2 6

Oncogene ELK1 ELK1 6

Oncogene ELK2 ELK2 6

Oncogene ERG (early reponse gene) 6

Oncogene GLI1 GLI1 6

Oncogene GLI2 GLI2 6

Oncogene GLI3 GLI3 6

Oncogene spil 6

Oncogene TEL ETV6 6

Oncostatin M OSM 6

Oncostatin M receptor OSMR 6

OmitMne delta-aminotransferase OAT 1

Osteonectin ON 6

Osteopontin OPN 6

Paired box homeotic gene 3 PAX3 6

Paired box homeotic gene 7 PAX7 6

Patched (DrosopMla) homolog, PTCH PTCH 6

Peanut-like 1 PNUTL1 4

Phagocytin Phenylethanolamme N-methyltransferase, PNMT 1

PNMT

Phosphatidylinositol glycan, classA PIGA 6

(paroxysmal nocturnal hemoglobmuria)

Phospholipase A2, group 10 PLA2G10 4

Phospholipase A2, group IB PLA2GIB 4

Phospholipase A2, group 2A PLA2G2A 4

Phospholipase A2, group 2B PLA2G2B 4

Phospholipase A2, group 4A PLA2G4A 4

Phospholipase A2, group 4C PLA2G4C 4

Phospholipase A2, group 5 PLA2G5 4

Phospholipase A2, group 6 PLA2G6 4

Phospholipase C alpha 4

Phospholipase C beta 4

Phospholipase C delta PLCD1 4

Phospholipase C epsilon 4

Phospholipase C gamma PLCG1 4

Phosphomannomutase-2 PMM2 2

PlakopMlin 1 PKP1 2

Plasmmogen PLG 1

Plasminogen activator inMbitor 1 PAI I 1

Plasminogen activator inMbitor 2 PA12 1

Plasminogen activator receptor, Urokmase UPAR;PLAUR 3

Plasminogen activator, Tissue PLAT,TPA 1

Plasminogen activator, UroMnase UPA;PLAU 1

Platelet glycoprotem lb, alpha GPIBA 4

Platelet glycoprotein lb, beta GPLBB 4

Platelet glycoprotein I b, gamma GPLBG 4

Platelet glycoprotein IX GP9 4

Platelet glycoprotein V GP5 4

Platelet-activating factor acetylhydrolase 1 B PAFAHlBl or LISl 4

Platelet-activating factor acetylhydrolase 2 PAFAH2 4

Platelet-activating factor receptor PAFR 4

Poliovirus receptor PVR,PVS 4

Potassium channel, calcium-activated, KCNN4 5

Potassium inwardly-rectifying Channel Jl KCNJ1 5

Potassium inwardly-rectifymg Channel Jl 1 KCNJ11 5

Potassium voltage-gated channel AI KCNA1 5

Potassium voltage-gated channel El KCNE1 5

Potassium vo tage-gated Channel Ql KCNQl 5

Potassium voltage-gated channel Q2 KCNQ2 5

Potassium voltage-gated Channel Q3 KCNQ3 5

Prekallikrein 4

Preproenkephalin PENK 5

Procoliagen N-protease 1

Promyelocytic leukemia gene PML 6

Proopiomelanocortin POMC 5 Properdin P factor, complement PFC, PFD 4

Prostacyclin synthase 4

Prostaglandm (PG) D synthase, hematopoietic PGDS 1

Prostaglandm 15-OH dehydrogenase HGPD;PGDH 4

Prostaglandin D - DP receptor 4

Prostaglandin El receptor 4

Prostaglandm E2 receptor 4

Prostaglandin E3 receptor 4

Prostaglandin F - FP receptor 4

Prostaglandin 12 receptor 2

Prostaglandin IP receptor 4

Prostaglandin isomerase 6

Prostaglandin-endoperoxidase synthase 2 PTGS2 6

Protease inMbitor 1 2

Protein C PROC 4

Protem C inMbitor PCI 4

Protein kinase A

Protem ldnase C, alpha PRKCA

Protein kinase C, gamma PRKCG

Protein kinase DNA-activated PRKDC

Protein kinase G

Protein phosphatase 1, regulatory (inMbitor) PPP1R3 subumt 3

Protein phosphatase 2, regulatory subumt A, PPP2R1B 1 beta isoform

Protein S PROS1 4

Protein tyrosme phosphatase, non-receptor PTPNI2 6 type 12

Proteinase 3

ProtMombin precursor F2 4

Purine nucleoside phosphorylase NP 1

Pyruvate decarboxylase PDHA 1

Retinoblastoma 1 RB1 6

Retmol binding protein 4 RBP4 2

Rhesus blood group, CcEe antigens RHCE 2

Rhesus blood group, D antigen RHD 2

Rhesus blood group-associated glycoprotem RHAG 2

Ribosomal protein S 1 9 RPS19 1

RIGUI RIGUI 6

S100 calcium-binding protein A2 S100A2 5

S100 calcium-binding protem A3 S100 A3 5

S100 calcium-binding protein A5 S100A5 5

S100 calcium-bindmg protein A6 S100A6 5

S100 calcium-binding protem A7 S100A7 5

S100 calcium-bmding protem A8 S100A8 5

S100 calcium-bindmg protem P S100P 5

SAP (SLAM associated protem) SH2D1A 4 Selectin E SELE 5

Selectin L SELL 5

Selectin P SELP 5

Serotomn receptor, 5HT1 A HTR1A 5

Serotomn receptor, 5HT1B HTR1B 5

Serotomn receptor, 5HT1C HTR1C 5

Serotomn receptor, 5HT1D HTR1D 5

Serotomn receptor, 5HT1E HTR1E 5

Serotomn receptor, 5HT1F HTR1F 5

Serotomn receptor, 5HT2A HTR2A 5

Serotomn receptor, 5HT2B HTR2B 5

Serotomn receptor, 5HT2C HTR2C 5

Serotomn receptor, 5HT3 HTR3 5

Serotomn receptor, 5HT4 HTR4 5

Serotomn receptor, 5HT5 HTR5 5

Serotomn receptor, 5HT6 HTR6 5

Serotomn receptor, 5HT7 HTR7 5

Severe combined immunodeficiency, type A SCIDA 4

(Athabascan)

Signal transducer and activator of transcription ST ATI

1

Signal transducer and activator of transcription STAT2 6

2

Signal transducer and activator of transcription STAT3 6

3

Signal transducer and activator of transcription STAT4 6

4

Signal transducer and activator of transcription STAT5 6

5

Signaling lymphocyte activation molecule SLAM 4

Sine oculis homeobox, drosopMla, homolog 1 SKI 6

Sme oculis homeobox, drosopMla, homolog 2 SIX2 6

Sjoegren (Sjogren) syndrome antigen AI SSAl 4

Sodium channel, non-voltage gated 1, alpha SCNNIA 5

Sodium channel, non-voltage gated 1, beta SCNNIB 5

Sodium channel, non-voltage gated 1, gamma SCNNIG 5

Sodium Channel, voltage gated, type V, alpha SCN5A 5 polypeptide

Sodium Channel, voltage-gated, type 1, beta SCN1B 5 polypeptide

Solute carrier family 19 (folate transporter), SLC19A1 2 member 1

Solute carrier family 20, member 1 SLC20A1 2

Solute carrier family 20, member 2 SLC20A2 2

Solute carrier family 5 (sodium/glucose SLC5A1 2 transporter), member 1 Solute carrier family 5 (sodium/glucose SLC5A2 2 transporter), member 2

Solute carrier family 5 (sodium/glucose SLC5A5 2 transporter), member 5

Solute carrier family 5, member 3 SLC5A3 2

Sorcin SRI 2

Sperm prolamme Pl PRM1 6

Sperm prolamine P2 PRM2 6

Stern cell factor SCF 6

Stromal derived factor 1 SDF1 6

Succinate dehydrogenase 1 SDHL 1

Succinate tMokinase 1

Superoxide dismutase 1 SOD1 1

Superoxide dismutase 3 SOD3 1

SYK-related tyrosine kinase SRK 4

Talin TLN 6

Talin, TLN 3

T-cell acute lymphocytic leukemia 1 TAL1 4

T-cell acute lymphocytic leukemia 2 TAL2 4

T-cell receptor, alpha TCRA 4

T-cell receptor, delta TCRD ^■4

Tenascm (cytotactin) 3

Tenascin XA TNXA 3

Terminal deoxynucleotidyltiansferase TDT 4

Terminal deoxynucleotidyltiansferase, TDT 1

TMombin receptor F2R 4

TMombopoietin THPO 6

TMombospondin THBSI 6

TMomboxane A synthase I TBXAS1 4

TMomboxane A2 TXA2 4

TMomboxane A2 receptor TBXA2R 4

Thy-1 T-cell antigen THY1 4

Thymic humoral factor 4

Thymopoietin TMPO 6

Thymosm 4

TIE receptor tyrosine kinase TIE-1 6

Tip-associated protein TAP 4

Toll-like receptor 4 TLR4 4

Topoisomerase I 1

Topoisomerase II 2

Transcobalamin 2, TCN2 TCN2 2

Transcription factor 3 TCF3 6

Transcription factor bmding to IGHM enhancer TFE3 6

3

Transferrin TF 6

Transferrin receptor TFRC 6

Transforming growth factor, alpha TGFA 6 Transforming growth factor, beta 2 TGFB2 6

Transforming growth factor, beta induced TGFBI 6

Transfonnmg growth factor, beta receptor 2 TGFBR2 6

Tuberous sclerosis 1 TSC1 6

Tuberous sclerosis 2 TSC2 6

Tubulin 3

Tumour necrosis factor (TNF) receptor TRAF1 4 associated factor 1

Tumour necrosis factor (TNF) receptor TRAF2 4 associated factor 2

Tumour necrosis factor (TNF) receptor TRAF3 4 associated factor 3

Tumour necrosis factor (TNF) receptor TRAF4 4 associated factor 4

Tumour necrosis factor (TNF) receptor TRAF5 4 associated factor 5

Tumour necrosis factor (TNF) receptor TRAF6 4 associated factor 6

Tumour necrosis factor alpha TNFA 4.

Tumour necrosis factor alpha receptor TNFAR 4

Tumour necrosis factor beta TNFB 4

Tumour necrosis factor beta receptor TNFBR 4

Tumour protein p53 TP53,P53 6

Tumour protein p63 TP63 6

Tumour protein p73 TP73 6

Tumour protein, transiationally-contiOlled 1 TPT1 6

Tumour suppresssor gene DRA DRA 4

Ubiquitin 6

Ubiquitin activating enzyme, El 1

Ubiquitin B UBB 6

Ubiquitin C UBC 6

Ubiquitin fusion degeneration I-like UFD1L 6

Ubiquitin protem ligase E3 A UBE3A 1

Undulm 1 COL14A1 3

Uridine monophosphate Idnase UMPK 4

Uridine monophosphate synthetase UMPS 4

Uroporphyrinogen III synthase UROS 1

Vimentin VIM 4 v-myc avian myelocytomatosis viral oncogene MYC 6 homolog

Von Hippel-Lmdau gene VHL 6

Werner syndrome helicase WRN 6

Wilms tumour gene 1 WT1 6

Wilms tumour gene 2 WT2 6

Wilms tumour gene 4 WT4 6

Winged helix nude WHN 6

Wiskott-Aldrich syndrome protem WASP, THC 4 Xanthme dehydrogenase XDH 1

X-ray repair gene XRCC9 6

Zmc finger protem HRX ALL1 4,

Legende für die Spalte Proteinfiinktion:

1 Enzym 2 Transport und Lagerung

3 Struktur 4 Immumtät

5 Nervale Transmission 6 Wachstum und Differenzierung

Tabelle 12

Fehlfunktion, Schädigung oder Erkrankung des Körpers als Folge einer

Abweichung im Entwicklungsprozess

Liste der Gene HUGO Protein¬

Gensymbol funktion

17-Ketosteroid reductase 5

2,4-Dienoyl CoA reductase DECR

3 beta Hydroxysteroid dehydrogenase 2 HSD3B2

3-Oxoacid CoA transferase OXCT

6-Pymvoyltetrahydropterin synthase PTS

Absent in melanoma 1 gene AIM1 6

Acetoacetyl 2-CoA-tMolase ACAT2

Acetyl CoA acyltiansferase ACAA

Acetyl CoA carboxylase alpha ACACA

Acetylcholine receptor, mcotimc, alpha AI CHRNA1 5

Acetylcholine receptor, mcotimc, alpha A2 CHRNA2 5

Acetylcholine receptor, nicotimc, alpha A3 CHRNA3 5

Acetylcholine receptor, nicotimc, alpha A4 CHRNA4 5

Acetylcholme receptor, nicotimc, alpha A5 CHRNA5 5

Acetylcholine receptor, nicotmic, alpha A6 CHRNA6 5

Acetylcholine receptor, nicot mc, alpha A7 CHRNA7 5

Acetylcholine receptor, nicotimc, beta 1 CHRNB1 5

Acetylcholme receptor, nicotimc, beta 2 CHRNB2 5

Acetylcholme receptor, nicotimc, beta 3 CHRNB3 5

Acetylcholme receptor, nicotimc, beta 4 CHRNB4 5

Acetylcholme receptor, nicotimc, epsilon CHRNE 5

Acetylcholine receptor, nicotimc, gamma CHRNG 5

Acetylcholmesterase ACHE 1

AcMomatopsia 2 ACHM2 3

Acid phosphatase 2, lysosomal ACP2 1

Acrosin ACR 6

Actin, alpha, cardiac ACTC 3

Actin, alpha, skeletal ACTA1 3

Actin, alpha, smooth, aortic ACTA2 3

Activin 6

Activin A receptor, type 2B ACVR2B 6

Activm A receptor, type 2-like kinase 1 ACVRL1 6

Acyl CoA dehydrogenase, short cham ACADS

Acyl-CoA tMoesterase

ADAM (A dismtegrm and metalloprotemase) 1 ADAM1

ADAM (A dismtegrm and metalloproteinase) 10 ADAMIO

ADAM (A disintegrin and metalloproteinase) 11 ADAM11

ADAM (A dismtegrm and metalloproteinase) 12 ADAM12

ADAM (A disintegrin and metalloprotemase) 13 ADAM13

ADAM (A dismtegrm and metal oproteinase) 14 ADAM14 ADAM (A disintegrin and metalloprotemase) 15 ADAM15

ADAM (A disintegrin and metalloprotemase) 16 ADAM16

ADAM (A dismtegrm and metalloprotemase) 17 ADAM17

ADAM (A disintegrin and metalloprotemase) 18 ADAM18

ADAM (A disintegdn and metalloprotemase) 19 ADAMI9

ADAM (A disintegrin and metalloproteinase) 2 ADAM2

ADAM (A disintegrin and metalloproteinase) ADAM3A

3A

ADAM (A disintegrin and metalloproteinase) ADAM3B

3B

ADAM (A disintegrin and metalloproteinase) 4 ADAM4

ADAM (A disintegrin and metalloproteinase) 5 ADAM5

ADAM (A disintegrin and metalloproteinase) 6 ADAM6

ADAM (A disintegrin and metalloproteinase) 7 ADAM7

ADAM (A disintegrin and metalloproteinase) 8 ADAM8

ADAM (A disintegrin and metalloproteinase) 9 ADAM9

Adducin, alpha ADD1 3

Adducm, beta ADD2 3

Adenomatous polyposis coli tumour supressor APC 6 gene

Adenosine deaminase ADA 1

Adenosine monophosphate deaminase AMPD 1

Adenosine receptor AI ADORA1 5

Adenosine receptor A2N ADORA2A 5

Adenosine receptor A2B ADORA2B 5

Adenosine receptor A3 ADORA3 5

Adenyl cyclase 5

Adenylate cyclase 1 ADCY1

Adenylate cyclase 2 ADCY2

Adenylate cyclase 3 ADCY3

Adenylate cyclase 4 ADCY4

Adenylate cyclase 5 ADCY5

Adenylate cyclase 6 ADCY6

Adenylate cyclase 7 ADCY7

Adenylate cyclase 8 ADCY8

Adenylate cyclase 9 ADCY9

Adenylosuccinate lyase ADSL

ADP-ribosyltransferase ADPRT

Adrenergic receptor, alphal ADRA1 5

Adrenergic receptor, alpha2 ADRA2 5

Adrenergic receptor, betal ADRB1 5

Adrenergic receptor, beta2 ADRB2 5

Adrenergic receptor, beta3 ADR83 5

AdrenocorticotropMc hormone (ACTH) ACTHR 6 receptor

Adrenoleukodystrophy gene ALD 1

Alamne-glyoxylate ammotransferase AGXT 1 Albuntin, ALB ALB 2

Aldehyde dehydrogenase 1 ALDH1 1

Aldehyde dehydrogenase 10 ALDH10 1

Aldehyde dehydrogehase 2 ALDH2 1

Aldehyde dehydrogenase 5 ALDH5 1

Aldehyde dehydrogenase 6 ALDH6 1

Aldehyde dehydrogenase 7 ALDH7 1

Aldolase A ALDOA 1

Aldolase B ALDOB 1

Aldolase C ALDOC 1

Aldosterone receptor MLR 6

Alkaline phosphatase, liver/bone/kidney ALPL 2

Alkaptonuris gene AKU 6

Alkylglycerone phosphate synthase AGPS 1

Alpha 2 macroglobulin A2M 4 alpha tectorin TECTA 6 alpha thalassemia gene ATRX 5 alphal -Antitrypsin Pl 1 alpha2-Antiplasmin PLI 1 alpha- Actimn 2 ACTN2 6 alpha- Actimn 3 ACTN3 6 alpha- Amylase 1

Alpha-fetoprotem AFP 6 alpha-Galactosidase A GLA 1 alpha-ketoglutarate dehydrogenase 1 alpha-L-Iduromdase IDUA 1 alpha-Synuclein SNCA 5

Amelogemn AMELX 3

Aminomethyltransferase AMT 1

Aminopeptidase P XPNPEP2 1

AmpMregulin AREG 6

Amylo- 1 ,6-glucosidase AGL 1

Amyloid beta (A4) precursor protem-binding, APBB1 5

APBB1

Amyloid beta A4 precursor protein APP 5

Amyloid beta A4 precursor-like protein APLP 5

Androgen binding protein ABP 2

Androgen receptor AR 6

Angiopoietin 1 ANGPT1 6

Angiopoietin 2 ANGPT2 6

Angiotensin converting enzyme ACE,DCP1 1

Angiotensinogen AGT 1

Ankyrin 1 ANK1 3

Ankyrin 2 ANK2 3

Ankyrin 3 ANK3 3

Antidiuretic hormone receptor ADHR 2

Anti-Mullerian hormone AMH 6 Anti-Mullerian hormone type 2 receptor AMHR2 6

Antithrombm III AT3 1

AP-2, alpha TFAP2A 6

AP-2, beta TFAP2B 6

AP-2, gamma TFAP2C 6

Apaf-1 3

Apical protein, xenopus laevis-like APXL 6

Apolipoprotem A 4 APOA4 2

Apolipoprotein A I APOA1 2

Apolipoprotein A II APOA2 2

Apolipoprotein B APOB 2

Apolipoprotein Cl APOC1 2

Apoiipoprotein C2 APOC2 2

Apolipoprotem C3 APOC3 2

Apolipoprotein D APOD 2

Apolipoprotein E APOE 2

Apolipoprotein H APOH 2

Apopain CPP32 6

Apoptosis antigen 1 APT1 4

Apoptosis antigen ligand 1 APT1LG1 4

Apoptosis-mducing factor AIF 4

Apurimc endonuclease APE 1

Archaete-scute homolog 1 ASH1 6

Archaete-scute homolog 2 ASH2 6

Arginosuccinate synthetase ASS 1

Arrestin SAG 3

Aryi hydrocarbon receptor AHR 2

Aryi hydrocarbon receptor nuclear translocator ARNT 2

Arylsulfatase A ARSA 1

Arylsulfatase B ARSB 1

Arylsulfatase C ARSC1 1

Arylsulfatase D ARSD 1

Arylsulfatase E ARSE 1

Arylsulfatase F ARSF 1

Aspartate transaminase 2

Aspartate transcarbamoylase 1

Aspartoacylase ASPA 1

Aspartylglucosammidase AGA 1

Astrotactin ASTN 6

Ataxia telangiectasia complementation group D ATD, ATDC 6

Ataxia telangiectasia gene, AT ATM 6

Ataxin 1 SCA1 6

Ataxin 2 SCA2 6

Ataxm 3 MJD 6

ATP-bindmg cassette transporter 7 ABC7 4

Atiial natriuretic peptide ANP 6

Atiial natriuretic peptide receptor A NPR1 6 Atiial natriuretic peptide receptor B NPR2 6

Atriai natriuretic peptide receptor C NPR3 6

AtropMn 1 DRPLA 6

Affractin

Autoimmune regulator, AIRE AIRE

Azoospermia factor 1 AZF1 6

Bagpipe homeobox, drosopMla homolog of, 1 BAPX1 6

B-cell CLL/lymphoma 1 BCL1 4

B-cell CLL/lymphoma 10 BCL10 4

B-cell CLL/lymphoma 3 BCL3 4

B-cell CLL/lymphoma 4 BCL4 4

B-cell CLL/lymphoma 5 BCL5 4

B-cell CLL/lymphoma 6 BCL6 4

B-cell CLL/lymphoma 7 BCL7 4

B-cell CLL/lymphoma 8 BCL8 4

B-cell CLL/lymphoma 9 BCL9 4

BCL2-associated X protem BAX 6

BCL2-related protein AI BCL2A1 6

Beckwith-Wiedemann region 1 A BWR1A 6

BestropMn VMD2 2 beta 2 Microglobulm B2M 4 beta-EndorpMn receptor 5 beta-Glucuromdase GUSB beta-N-Acetylhexosamimdase, A beta-N-Acetylhexosamimdase, B

Bilirubin UDP-glucuronosyltransferase

Bleomycin hydrolase BLMH

Bloom syndrome protein BLM 6

Blue cone pigment BCP 3

Bone morphogenetic protein, BMP1 BMP1 6

Bone morphogenetic protem, BMP2 BMP2 6

Bone morphogenetic protein, BMP3 BMP3 6

Bone morphogenetic protem, BMP4 BMP4 6

Bone morphogenetic protem, BMP5 BMP5 6

Bone morphogenetic protein, BMP6 BMP6 6

Bone morphogenetic protein, BMP7 BMP7 6

Bone morphogenetic protein, BMP8 BMP8 6

Brain derived neurotrophic factor BDNF 6

Brain derived neurotrophic factor (BDNF) BDNFR 6 receptor

Branched chain ammotiansferase 1, cytosolic BCAT1 1

Branched chain ammotiansferase 2, BCAT2 1 mitochondrial

BRCA1 -associated RING domam gene 1 BARD1 6

Breakpoint cluster region BCR 6

Breast cancer 1 BRCA1 6

Breast cancer 2 BRCA2 6 Breast cancer, ductal, 1 BRCD1 6

Breast cancer, ducta, 2 BRCD2 6

Braton agammaglobulmaemia tyrosine kinase BTK 6

Butyrylcholmesterase BCHE 1

C3 convertase 1

Ca(2+) transportmg ATPase, fast twitch ATP2A1 2

Ca(2+) transportmg ATPase, slow twitch ATP2A2 2

Cadherin E CDHI 6

Cadherin EP 6

Cadherin N CDH2 6

Cadherin P CDH3 6

Calbindin 1 CALB1 6

Calbindin D9K CALB3 6

Calcium channel, voltage-dependent, Alpha 1 F CACNA1F 5 subumt

Calcium channel, voltage-dependent, Alpha- CACNA1B 5

1B (CACNL1A5)

Calcium channel, voltage-dependent, Alpha- CACNA1C 5

1 C

Calcium channel, voltage-dependent, Alpha- CACNA1D 5

1 D

Calcium channel, voltage-dependent, Alpha- CACNA1E 5

I E (CACNL1A6)

Calcium channel, voltage-dependent, Alpha- CACNA2 5

2/delta

Calcium channel, voltage-dependent, Beta 1 CACNB1 5

Calcium channel, voltage-dependent, Beta 3 CACNB3 5

Calcium channel, voltage-dependent, L type, CACNA1S 5 alpha IS subimit

Calcium channel, voltage-dependent, CACNG2 5

Neuronal, Gamma

Calcium channel, voltage-dependent, P/Q CACNA1A 5 type, alpha 1 A subimit

Calcium channel, voltage-dependent, T-type 5

Calcium sensing receptor CASR 2

Calmodulin 1 CALM1 6

Calmodulin 2 CALM2 6

Calmodulin 3 CALM3 6

Calmodulm dependent ldnase 2

Calmodufin-dependant protein kinase II CAMK2A 6

Calnexin CANX 6

Calpam CAPN,CAPN3 1

Canalicular multispecific orgamc amon CMOAT 2 transporter

Carbamoylphosphate synthetase 1 CPS1 1

Carbamoylphosphate synthetase 2 CPS2 1

Carbomc anhydrase 3 CA3 1 Carbomc anhydrase 4 CA4 1

Carbomc anhydrase, alpha CA1 1

Carbomc anhydrase, beta CA2 1

Cardiac-specific homeobox, CSX CSX 6

Camitine acetyltransferase CRAT 1

Camitine acylcamitine translocase CACT 1

Camitine tiansporter protein CDSP,SCD 2

Cartilage oligomeric matrix protem COMP, EDM1, 5

PSACH

Cartilage-hair hypoplasia gene CHH 5

Caspase 1 CASP1 6

Caspase 10 C ASP 10 6

Caspase 2 CASP2 6

Caspase 3 CASP3 6

Caspase 4 CASP4 6

Caspase 5 CASP5 6

Caspase 6 CASP6 6

Caspase 7 CASP7 6

Caspase 8 CASP8 6

Caspase 9 CASP9 6

Catechol-o-methyltiansferase COMT 1

Catemn, alpha CTNNA1 6

Catemn, beta CTNNB1 6

Catemn, gamma 6

Cathepsin K CTSK 1

Caveolin 3 CAV3 1

CD1 CD1 4

CD44 CD44 4

Cdc 25 phosphatase 6

Cdc2 CDC2 6

CDX1 6

CEA 6

Cell adhesion molecule, intercellular, ICAM ICAM1 6

Cell adhesion molecule, leukocyte-endothelial, LECAMl 6

LECAM (CD62)

Cell adhesion molecule, liver, LCAM LCA 6

Cell adhesion molecule, neural, NCAMl NCAMl 6

Cell adhesion molecule, neural, NCAM2 NCAM2 6

Cell adhesion molecule, platelet-endothelial, PECAM 6

PECAM

Cell adhesion molecule, vascular, VCAM VCAMl 6

Cellubrevin CEB 5 c-erbBl ERBB1 6 c-erbB2 ERBB2 6 c-erbB3 ERBB3 6 c-erbB4 ERBB4 6

Ceroid lipofuscinosis neuronal 2 CLN2 5 Ceroid lipofuscmosis neuronal 3 CLN3 5

Ceroid lipofuscmosis neuronal 4 CLN4 5

Ceroid lipofuscinosis neuronal 5 CLN5 5

Ceroid lipofuscinosis neuronal 6 CLN6 5

Chediak-HigasM syndrome 1 gene CHSl 2

Chemokine MCAF MCAF 4

Chemokine receptor CCR2 CCR2 4

Chemokme receptor CCR3 CCR3 4

Chemokine receptor CCR5 CCR5 4

Chemokine receptor CXCRI CXCRI 4

Chemokine receptor CXCR2 CXCR2 4

Chemokine receptor CXCR4 CXCR4 4

CMoride channel 5 CLCN5 3

Cholestasis, progressive familial mtrahepatic 1 FIC1 6 gene

Cholesterol ester transfer protein CETP 2

Choline acetyltransferase CHAT 1

Choroideremia gene CHM 3

CMomogramn A CHGA 6

Ciliary neurotropMc factor (CNTF) CNTF 6

Ciliary neurotropMc factor (CNTF) receptor CNTFR 6 c-kit receptor tyrosine kinase 6

ClatMin 2

Cleavage signal-1 protein CS1 6

Cleft palate gene CPX 6

Clusterin CLU 6

CoA tiansferase 1

CocMin COCH 4

Cockayne syndrome gene, CKNI CKNI 6

Collagen I alpha 1 COL1A1 3

Collagen I alpha 2 COL1A2 8

Collagen II alpha 1 COL2A1 3

Collagen III alpha 1 COL3A1 3

Collagen IV alpha 1 COL4A1 3

Collagen IV alpha 2 COL4A2 3

Collagen IV alpha 3 COL4A3 3

Collagen IV alpha 4 COL4A4 3

Collagen IV alpha 5 COL4A5 3

Collagen IV alpha 6 COL4A6 3

Collagen IX alpha 2 COL9A2, EDM2 3

Collagen IX alpha 3 COL9A3 3

Collagen receptor COLR 3

Collagen V alpha 1 COL5A1 3

Collagen V alpha 2 COL5A2 3

Collagen VI alpha 1 COL6A1 3

Collagen VI alpha 2 COL6A2 3

Collagen VI alpha 3 COL6A3 3 Collagen VII alpha 1 COL7A1 3

Collagen X alpha 1 COL10A1 3

Collagen X alpha 1 COLI 1 AI 3

Collagen XI alpha 2 COL11A2 3

Collagen XVII alpha l COL17A1 3

Collagemc-like tail subumt of asymmetric COLQ 1 acetylcholinesterase

Collapsm 6

Colony-stimulatmg factor 1 CSF1 6

Colony-stimulating factor 1 receptor CSF1R 6

Colony-stimulatmg factor 2 CSF2 6

Colony-stimulating factor 2 alpha receptor CSF2RA 6

Colony-stimulating factor 2 beta receptor CSF2RB 6

Colony-stimulating factor 3 CSF3 6

Colony-stimulating factor 3 receptor CSF3R 6

Complex V MTATP6 1

Cone-rod homeobox-contaimng gene CRX 6

Contactin CNTN1 6

Core-bmding factor, alpha 1 CBFA1 6

Core-bmding factor, alpha 2 CBFA2 6

Core-binding factor, beta CBFB 6

CorticotropMn-releasmg hormone CRH 2

CorticotropMn-releasing hormone receptor CRHR1 2

Creatine kinase - B and m CKBE 1

Creb binding protein CREBBP 6

CryptocMome 1 CRY1 3

CryptocMome 2 CRY2 3

Crystallin, alpha A CRYAA 3

Crystallin, alpha B CRYAB 3

Crystallm, beta B2 CRYBB2 3

Crystallin, gamma A CRYGA 3 c-src tyrosine ldnase CSK 6

Cu2+ transporting ATPase alpha polypeptide ATP7A 1

Cu2+ transportmg ATPase beta polypeptide ATP7B 1

Cubilin CUBN 2

Cyclic AMP response element bmdmg protein CREB 6

Cyclic AMP response element modulator CREM 6

Cyclic AMP-dependent protein kinase PKA 1

Cyclic nucleotide gated channel alpha 1, CNGA1 5

CNGA1

Cyclic nucleotide gated channel alpha 3, CNGA3 5

CNGA3

Cyclic nucleotide phosphodiesterase 1B PDE1B

Cyclic nucleotide phosphodiesterase IBl PDE1B1

Cyclic nucleotide phosphodiesterase 2A3 PDE2A3

Cyclic nucleotide phosphodiesterase 3A PDE3A

Cyclic nucleotide phosphodiesterase 3B PDE3B Cyclic nucleotide phosphodiesterase 4A PDE4N

Cyclic nucleotide phosphodiesterase 4C PDE4C

Cyclic nucleotide phosphodiesterase 5 A PDE5N

Cyclic nucleotide phosphodiesterase 6A PDE6N

Cyclic nucleotide phosphodiesterase 6B PDE6B

Cyclic nucleotide phosphodiesterase 7 PDE7

Cyclic nucleotide phosphodiesterase 8 PDE8

Cyclic nucleotide phosphodiesterase 9A PDE9N

Cyclin A CCΝN 6

Cyclin B CCΝB 6

Cyclin C CCΝC 6

Cyclin D CCΝD1 6

Cyclin E CCΝE 6

Cyclm F CCΝF 6

Cyclin-dependent kinase 1 CDK1 6

Cyclin-dependent kinase 10 CDK10 6

Cyclin-dependent kinase 2 CDK2 6

Cyclin-dependent kinase 3 CDK3 6

Cyclin-dependent kinase 4 CDK4 6

Cyclin-dependent kinase 5 CDK5 6

Cyclin-dependent ldnase 6 CDK6 6

Cyclin-dependent kinase 7 CDK7 6

Cyclin-dependent kinase 8 CDK8 6

Cyclin-dependent kinase 9 CDK9 6

Cyclin-dependent kinase inMbitor 1A (P21, CDKΝ1N 6

CIPI)

Cyclin-dependent kinase inMbitor IB (P27, CDKΝ1B 6

KIP1)

Cyclin-dependent kinase inMbitor IC (P57, CDKΝ1C 6

KIP2)

Cyclin-dependent kinase inMbitor 2A (pl6) CDKΝ2N 6

Cyclin-dependent kinase inMbitor 3 CDKΝ3 6

Cyclooxygenase 1 COX1

Cyclooxygenase 2 COX2

CYP11A1 CYP11A1

CYP11B1 CYP11B1

CYP11B2 CYP11B2

CYP17 CYP17

CYP19 CYP19

CYPIAI CYPIAI

CYP1N2 CYP1A2

CYP1B1 CYP1B1

CYP21 CYP21

CYP24 CYP24

CYP27 CYP27

CYP27B1 PDDR

CYP2N1 CYP2A1 CYP2A13 CYP2A13

CYP2A3 CYP2A3

CYP2A6V2 CYP2A6V2

CYP2A7 CYP2A7

CYP2B6 CYP2B6

CYP2C18 CYP2C18

CYP2C19 CYP2C19

CYP2C8 CYP2C8

CYP2C9 CYP2C9

CYP2D6 CYP2D6

CYP2E1 CYP2E1

CYP2F1 CYP2F1

CYP2J2 CYP2J2

CYP3A3 CYP3A3

CYP3A4 CYP3A4

CYP3A5 CYP3A5

CYP3A7 CYP3A7

CYP4A11 CYP4A11

CYP4B1 CYP4B1

CYP4F2 CYP4F2

CYP4F3 CYP4F3

CYP51 CYP51

CYP5A1 CYP5A1

CYP7A CYP7A

CYP8 CYP8

CystatMonase CTH

CystatMone beta synthase CBS

Cystic fibrosis transmembrane conductance CFTR 5 regulator, CFTR

Cystinosin CTNS 2

Cytidine deammase CDA 1

CytocMome b-5 CYB5 1 DAXl nuclear receptor DAXl 4

Deafhess autosomal dominant 5 DFNA5 5

Deafhess dystoma peptide DDP 5 Defender agamst cell death 1 DADl 6

Deleted m azospermia DAZ 6 Deleted in colorectal carcinoma DCC 6

Deleted in malignant brain tumours 1 DMBTl 6 Delta ammolevulinate dehydratase ALAD 1 Delta(4)-3 -oxosteroid 5-beta-reductase 1 Delta-7-dehydrocholesterol reductase DHCR7 1 Dentin sialophosphoprotem DSPP 6 Deoxyuridine tiiphosphatase; dUTPase 1 Desert hedgehog, dhh 6

DHEA sulfotransferase STD 1

Diaphanous 1 DIAPH1 5 Diaphanous 2 DIAPH2 5

DiastropMc dysplasia sulfate transporter DTD 2

Dihydrolipoamide branched chain transacylase DBT 5

Dihydrolipoamide dehydrogenase DLD 5

Dihydrolipoyl dehydrogenase 2 PDHA 1

Dihydrolipoyl transacetylase PDHA 1

Dihydroorotase 1

Dihydroxyacetonephosphate acyltiansferase DHAPAT 1

Disrupted meiotic cDNA 1, homolog DMC1 6

Distal-less homeobox 1 DLX1 6

Distal-less homeobox 2 DLX2 6

Distal-less homeobox 3 DLX3 6

Distal-less homeobox 4 DLX4 6

Distal-less homeobox 5 DLX5 6

Distal-less homeobox 6 DLX6 6

DNA damage binding protein, DDBI DDBI 3

DNA damage binding protein, DDB2 DDB2 3

DNA directed polymerase, alpha POLA

DNA glycosylases

DNA helicases

DNA Ligase 1 LIG1

DNA methyltransferase DNMT

DNA polymerase 1

DNA polymerase 2

DNA polymerase 3

DNA primase

DNA-damage-inducible transcript 3 DDIT3

DNA-dependant RNA polymerase

DOPA decarboxylase DDC

Doublecortin, DCX DCX 3

Duf y blood group FY 2

Dynanύn DNM1 6

Dynein 6

Dyskerin DKC1 3

Dystoma 1 DYT1 3

Dystonia 3 DYT3 3

Dystoma 6 DYT6 3

Dystoma 7 DYT7 3

Dystoma 9 CSE 3

DystropMa myotomca DM, DMPK 1

DystropMa myotomca, atypical DM2 1

DystiopMn DMD 3

DystiopMn-associated glycoprotein 35kD, SGCD 3

SCGD

DystiopMn-associated glycoprotem 35kD, SGCG 3

SGSG

DystiopMn-associated glycoprotein 43kD SGCB 3 DystiopMn-associated glycoprotem 5OkD SGCA 3

E74-like factor 1, ELFI ELFI 6

EB1 6

Ectodermal Dysplasia 1 gene EDI 3

Election-transfering-flavoprotein alpha ETFA 2

Election-transfering-flavoprotein beta ETFB 2

Electron-transferring flavoprotem ETFDH 1 dehydrogenase

Empty spiracies (drosopMla) homologue 1 EMX1 6

Empty spiracies (drosopMla) homologue 2 EMX2 6

Endobrevin VAMP8 5

Endocardial fibroelastosis 2 gene EFE2 3

Endometrial bleeding-associated factor EBAF 6

Endothelm 1 EDN1 5

Endothelin 2 EDN2 5

Endothelin 3 EDN3 5

Endothelin convertmg enzyme ECE1 5

Endothelin receptor type A EDNRA 5

Endothelin receptor type B EDNRB 5

Engrailed-1 ENI 6

Engrailed-2 EN2 6

Enolase ENO1 1

Enoyl CoA isomerase 1

Enterokinase PRSS7,ENTK 1

Ephrin receptor tyrosine kinase A EPHA 6

EpMin receptor tyrosine kinase B EPHB 6

Ephrin-A EFNA 6

Ephrin-B EFNB 6

Epidermal growth factor EGF 6

Epidermal growth factor receptor EGFR 6

Epilepsy, bemgn neonatal 4 gene ICCA 1

Epilepsy, female restricted EFMR 1

Epilepsy, progressive myoclomc 2 gene EPM2A • 1

ErytMocyte membrane protein band 4.1 EPB41 3

ErytMocyte membrane protem band 4.2 EPB42 3

ErytMocyte membrane protein band 7.2 EPB72 3

ErytMoid kruppel-like factor EKLF 6

ErytMopoietin EPO 4

ErytMopoietin receptor EPOR 4

Estrogen receptor ESR 6

Eukaryotic mitiation translation factor EIF4E 6

EWS RNA-bindmg protem EWSR1 6

Excision repair complementation group 1 ERCC1 1 protein

Excision repair complementation group 2 ERCC2 protein Excision repair complementation group 2 ERCC3 1 protein

Excision repair complementation group 4 ERCC4 1 protein

Excision repair complementation group 6 ERCC6 1 protem

Exostosm 1 EXT1 3

Exostosm 2 EXT2 3

Exostosin 3 EXT3 3

Eyes absent 1 EYA1 6

Eyes absent 2 EYA2 6

Eyes absent 3 EYA3 6

Faciogemtal dyspiasia FGD1, FGDY 2

Factor 1 (No. one) FI 4 .

Factor B, properdin 4

Factor D 4

Factor H HF1 4

Factor I (letter 1) IF 4

Factor III F3 4

Factor IX F9 4

Factor V F5 4

Factor VII F7 4

Factor VIII F8 4

Factor X F10 4

Factor XI Fll 4

Factor XII F12 4

Factor XIII A & B F13A & F13B 4

Fancom anemia, complementation group A FANCA 2

Fancom anemia, complementation group C FANCC 2

Fancom anemia, complementation group D FANCD 2

Fc fragment of IgG, Mgh affimty IA, receptor for FCGR1A 6

Fc fragment of IgG, low affimty Ila, receptor for FCGR2A 6

(CD32)

Fc fragment of IgG, low affimty lila, receptor for FCGR3A 6

(CD16)

Fc receptor 4

Fertilin protem FTNB 6

Fibrillin 1 FBN1 6

Fibrillin 2 FBN2 6

Fibroblast growth factor FGF1 6

Fibroblast growth factor receptor 1 FGFR1 6

Fibroblast growth factor receptor 2 FGFR2 6

Fibroblast growth factor receptor 3 FGFR3 6

Fibronectin precursor FN1 6

Flavm-contaming monooxygenase 1 FMO1 1

Flavin-contaimng monooxygenase 2 FMO2 1

Flavm-contammg monooxygenase 3 FMO3 1 Flavin-contaimng monooxygenase 4 FMO4 1

Flightless-II, DrosopMla homolog of FLII 6

Folic acid receptor FOLR 6

Follicle stimulating hormone receptor FSHR,ODGl 6

Follicle stimulating hormone, FSH FSHB 6

FoUicular lymphoma variant tianslocation 1 FVT1 4

Follistatin 6

Forkhead rhabdomyosarcoma gene FKHR 6

Forkhead transcription factor 10 FKHL10 6

Forkhead transcription factor 14 FKHL14 6

Forkhead transcription factor 7 FKHL7 6

Formiminotransferase 1

Fragile site, folic acid type, rare, fra(X) A FRAXA 5

Fragile site, folic acid type, rare, fra(X) E FRAXE 5

Fragile site, folic acid type, rare, frafX) F FRAXF 5

Frataxin FRDA 6

Fringe secreted protein, lunatic LFNG 6

Fringe secreted protein, mamc MFNG 6

Fringe secreted protem, radical RFNG 6

Fructose- 1 ,6-diphosphatase FBP1 1

Fucosyltransferase 6 FUT6 2

Fukuyama type congemtal muscular dystiophy FCMD 6

Fumarase FH 1

Fumarylacetoacetase FAH 1

G/T mismatch binding protem GTBP,MSH6 6

GABA receptor, alpha 1 GABRA1 5

GABA receptor, alpha 2 GABRA2 5

GABA receptor, alpha 3 GABRA3 5

GABA receptor, alpha 4 GABRA4 5

GABA receptor, alpha 5 GABRA5 5

GABA receptor, alpha 6 GABRA6 5

GABA receptor, beta 1 GABRB1 5

GABA receptor, beta 2 GABRB2 5

GABA receptor, beta 3 GABRB3 5

GABA receptor, gamma 1 GABRG1 5

GABA receptor, gamma 2 GABRG2 5

GABA receptor, gamma 3 GABRG3 5

GABA transaminase ABAT

Gadd45 (growth arrest & DNA-damage-inducible protein)

Galactocerebrosidase GALC

Galactokinase GALK1

Galactose 1 -phosphate uridyl-transferase GALT

Galactosyltransferase 1 GT1 6

Galactosyltransferase, alpha 1,3 GGTA1 6

Galactosyltransferase, beta 3 B3GALT 6

Galamn GAL 5

Galamn receptor GALNR1 5 Gamma-glutamyl carboxylase GGCX 2

Gap junction protein alpha 1 GJA1 2

Gap junction protem alpha 3 GJA3 2

Gap junction protein alpha 8 GJA8 2

Gap junction protein beta 1 GJB1 2

Gap junction protein beta 2 GJB2 2

Gap junction protein beta 3 GJB3 2

Gastric Mtrinsic factor, GIF GIF 1

Gastrin GAS 6

Gastrin releasmg peptide GRP 2

Gastrulation brain homeobox 2 GBX2 6

GDP dissociation inMbitor I GDI 1 6

Gelsolin GSN 6

Gemospasm 1 GSM1 6

Gephyrin 5

Glial-cell derived neurotropMc factor (GDNF) 5 receptor

Glial-cell derived neurotiopMc factor, GDNF GDNF 5

Glioma cMoride ion channel, GCC 6

Glucagon receptor GCGR 6

Glucagon-like peptide receptor 1 GLPLR 6

Glucocorticoid receptor GRL 6

Glucose-6-phosphatase tianslocase G6PT1

Glucosidase, acid alpha GAA

Glucosidase, acid beta GBA

Glutamate decarboxylase, GAD GAD1

Glutamate-cysteme ligase GLCLC

GlutatMone GSH 2

GlutatMone peroxidase, GPX1 GPX1

GlutatMone peroxidase, GPX2 GPX2

GlutatMone reductase, GSR GSR

GlutatMone S-transferase mu 1, GSTMI GSTMI

GlutatMone S-transferase mu 4, GSTM4

GlutatMone S-transferase theta 1, GSTT1 GSTTI

GlutatMone S-transferase theta 2, GSTT2

GlutatMone S-transferase, GSTP1 GSTP1

GlutatMone S-transferase, GSTZI GSTZI

GlutatMone synthetase GSS

Glyceraldehyde-3 -phosphate dehydrogenase, GAPDH

GAPDH

Glycerol kinase GK

Glycmamide ribonucleotide (GAR) GART tiansformylase

Glycme dehydrogenase GLDC

Glycme receptor, alpha GLRA2 5

Glycme receptor, beta

Glycogen brancMng enzyme GBE1 Glycogen phosphorylase PYGL 1 Glycogen synthase 1 (muscle) GLYS1 1 Glycogen synthase 2 (liver) GYS2 1 Glycosyltiansferases, ABO blood group ABO 1 Glypican 3 GPC3, SDYS 6

GM2 ganglioside activator protem, GM2A GM2A 1 Gonadotropin releasing hormone GNRH 6 Gonadotropm releasing hormone receptor GNRHR 6 Goosecoid GSC 6 Green cone pigment GCP 3 Growth arrest-specific homeobox GAX 6 Growth factor receptor-bound protem 2 GRB2 6 Growth hormone 1 GH1 6 Growth hormone 2 (placental) GH2 6 Growth hormone receptor GHR 6 Growth hormone releasing hormone (GHRH) GHRH 6 Growth hormone releasing hormone receptor GHRHR 6 Growth/differentiation factor 5 GDF5 6 Growth-regulated protein precursor, GRO GRO 4 GTP cylcohydrolase 1 GCH1 6 GTPase-activating protein, GAP RASA1 6 Guamdinoacetate N-methyltransferase GAMT 1 Guamne nucleotide-binding protein, alpha GNA01 5 activating activity polypeptide, GNAO Guamne nucleotide-bmding protem, alpha GNA11 5 inMbiting activity polypeptide 1, GNA11 Guamne nucleotide-binding protein, alpha GNAO 5 inMbiting activity polypeptide 2, GNA12 Guamne nucleotide-binding protein, alpha GNA13 5 inMbiting activity polypeptide 3, GNA13 Guamne nucleotide-bindmg protem, alpha GNAS1 5 stimulating activity polypeptide, GNAS1 Guamne nucleotide-bmding protein, alpha GNAS2 5 stimulating activity polypeptide, GNAS2 Guamne nucleotide-bindmg protein, alpha GNAS3 5 stimulating activity polypeptide, GNAS3 Guamne nucleotide-bmding protein, alpha GNAS4 5 stimulating activity polypeptide, GNAS4 Guamne nucleotide-bmding protein, alpha GNAT1 5 transducing activity polypeptide, GNAT1 Guamne nucleotide-binding protem, alpha GNAT2 5 transducmg activity polypeptide, GNAT2 Guamne nucleotide-bindmg protem, beta GNB3 5 polypeptide 3

Guamne nucleotide-bmding protein, gamma GNG5 5 polypeptide 5 Guamne nucleotide-bmdmg protem, q GNAQ 5 polypeptide

Guanylate cyclase 2D, membrane (retina- GUCY2D 1 specific)

Guanylate cyclase activator 1A (retina) GUCA1A 1

Guanylate Itinase 1

Gustducin, alpha (taste-specific G protem) GDCA 5

Haeme regulated inMbitor kinase 1

Haemoglobin epsilon 2

Hairless HR 6

Haptoglobin, alpha 1 HPA1 4

Haptoglobin, alpha 2 HPA2 4

Haptoglobm, beta HPB 4

Heat shock protein, HSP60 4

Heat shock protem, HSP70 4

Heat shock protein, HSP90 4

Heat shock protein, HSPA1 4

Heat shock protein, HSPA2 4

Heia tumor suppression gene HTS1 6

HemocMomatosis HFE 2

Hemopexin HPX 4

Heparan sulfamidase 1

Heparin binding epidermal growth factor HBEGF 6

Hepatic nuclear factor-3-beta HNF3B 1

Hepatic nuclear factor-4-alpha HNF4A 1

Hepatitis B virus Integration site 1 HVBS1 4

Hepatitis B virus Integration site 2 HVBS6 4

Hepatocyte growth factor HGF 6

Hexosamimdase N HEXA,TSD 1

Hexosamimdase B HEXB 1

High mobility group protein 1 HMG1 6

High mobility group protem 2 HMG2 6

High mobility group protein C HMGIC 6

High mobility group protein Y HMGIY 6

Histone family Hl Hl 6

Histone family H2 H2 6

Histone family H3 H3 6

Histone family H4 H4 6

HLN-B associated transcript 1 BAT1 4

HLH transcription factor HAΝD1 HAND1 6

HLH transcription factor HAΝD2 HAND2 6

HMG-CoA lyase HMGCL 1

HMG-CoA reductase HMGCR 1

HMG-CoA synthase HMGCS2 1

Holocarboxylase synthetase HLCS 1

Holoprosencephaly 1 HPE1 6

Holoprosencephaly 2 HPE2 6

4-. )

to

Hypoxia Mducible factor 1 HIF1A 1

Hypoxia mducible factor 2 1

IC7 N and B 4

Iduronate 2 sulphatase IDS 1

Ikaros gene IKAROS 6

Immunoglobulin alpha (IgA) IGHA 4

Immunoglobulm delta (IgD) IGHD 4

Immunoglobulin E (Ig ) reponsivigness gene IGER 4

Immimoglobulin E (IgE) serum concentration IGES 4 regulator gene

Immunoglobulin epsilon (IgE) IGHE 4

Immunoglobulin gamma (IgG) 2 IGHG2 4

Immunoglobulin heavy mu chain IGHM 4

Immunoglobulin J polypeptide IGJ 4

Immunoglobulin kappa constant region IGKC 4

Immunoglobulin kappa variable region IGKV 4

Indian hedgehog, ihh IHH 6

InMbin, alpha IΝHA 6

InMbin, beta A IΝHBA 6

InMbin, beta B IΝHBB 6

InMbin, beta C IΝHBC 6

Inosine monophosphate dehydrogenase, 1

IMPDH

Inositol 1,4,5-triphosphate receptor 1 ITPR1 6

Mositol 1,4,5-triphosphate receptor 3 ITPR3 6

Msulin INS 6

Insulin promotor factor 1 IPF1 6

Insulin receptor INSR 6

Insulin receptor Substrate- 1 IRS1 6

Insulin-like growth factor 1 IGF1 6

Msulin-like growth factor 1 receptor IGF1R 6

Insulin-like growth factor 2 IGF2 6

Insulm-like growth factor 2 receptor IGF2R 6

Integrin beta 1 ITGB1 6

Mtegrin beta 2 ITGB2 6

Mtegrin beta 3 ITGB3 6

Integrin beta 4 ITGB4 6

Integrin beta 5 ITGB5 6

Integrin beta 6 ITGB6 6

Integrin beta 7 ITGB7 6

Mtegrin, alpha 1 ITGA1 6

Mtegrin, alpha 2 ITGA2 6

Integrin, alpha 3 ITGA3 6

Mtegrin, alpha 4 ITGA4 6

Mtegrin, alpha 5 ITGA5 6

Mtegrin, alpha 6 ITGA6 6

Integdn, alpha 7 ITGA7 6 Mtegrin, alpha 8 ITGN8 6 Mtegrin, alpha 9 ITGA9 6 Mtegrin, alpha M ITGAM 6 Mtegrin, alpha X ITGAX 6

Inter-alpha-trypsin inMbitor, IATI 1 Mtercellular adhesion molecule 1 ICAM1 4 Mtercellular adhesion molecule 2 ICAM2 4 Mtercellular adhesion molecule 3 ICAM3 4 Interferon alpha IFΝA1 4 Interferon beta IFΝB 4 Interferon gamma IFΝG 4 Interferon gamma receptor 1 IFΝGR1 4 Interferon gamma receptor 2 IFΝGR2 4 Mterferon regulatory factor 1 IRF1 4 Interferon regulatory factor 4 IRF4 4 Mterleukin(IL) 1 receptor IL1R 4 InterleuMn(IL) 1, alpha IL1A 4 Interleukin(IL) 1, beta IL1B 4 Interleukin(IL) 10 IL10 4 Interleukin(IL) 10 receptor IL10R 4 Interleukin(IL) l l IL11 4 Interleukin(IL) 11 receptor IL11R 4 Mterleukm(IL) 12 IL12 4 Mterleukin(IL) 12 receptor, beta 1 IL12RB1 4 Mterleukin(IL) 13 IL13 4 Interleukin(IL) 13 receptor IL13R 4 lnterleukin(IL) 2 IL2 4 Mterleukin(IL) 2 receptor, alpha IL2RA 4 lnterleukin(IL) 2 receptor, gamma IL2RG 4 Interleukin(IL) 8 IL3 4 Mterleukin(IL) 3 receptor IL3R 4 MterleuMn(IL) 4 IL4 4 Interleukin(IL) 4 receptor IL4R 4 lnterleukin(IL) 5 IL5 4 Mterleukin(IL) 5 receptor IL5R 4 Mterleukin(IL) 6 IL6 4 Interleukin(IL) 6 receptor IL6R 4 lnterleukin(IL) 7 IL7 4 Interleukin(IL) 7 receptor IL7R 4 Mterleukin(IL) 8 IL8 4 Mterleukin(IL) 8 receptor IL8R 4 Mterleukin(IL) 9 IL9 4 Mterleuldn(IL) 9 receptor IL9R 4 Interleukin(IL) receptor antagomst 1 IL1RN, ILLRA 4 IP3 kinase 1

Isocitrate dehydrogenase 1 Isovaleric acid CoN dehydrogenase IVD 1 Janus Idnase 1 JAKI 6

Janus Idnase 2 JAK2 6

Janus Idnase 3 JAK3 6

Kallman syndrome gene 1 KALI 6

Kell blood group precursor XK, KEL 2

Keratin 1 KRT1 3

Keratin 10 KRT10 3

Keratin 11 KRT11 3

Keratin 12 KRT12 3

Keratin 13 KRT13 3

Keratin 14 KRT14 3

Keratin 15 KRT15 3

Keratin 16 KRT16 3

Keratin 17 KRT17, PCHC1 3

Keratin 18 KRT18 3

Keratin 2 KRT2 3

Keratin 3 KRT3 3

Keratin 4 KRT4 3

Keratin 5 KRT5 3

Keratin 6 KRT6 3

Keratin 7 KRT7 3

Keratin 8 KRT8 3

Keratin 9 KRT9 3

Ketohexokinase KHK 1

Kinectin KTN1 6

Kinesin, heavy chain KNSL1 6

Kinesin, light cham KNS2 6

Ll cell adhesion molecule L1CAM 5

Lactotransferrin LTF 2

Lamin A/C LMNA 6

Lamimn 5, alpha 3 LAMA3 6

Laminin 5, beta 3 LAMB3 6

Lamimn 5, gamma 2 LAMC2 6

Lamimn M LAMM 6

Lamimn receptor 1 LAMR1 6

Latent transforming growth factor-beta bmding LTBP2 6 protein 2

Leptin LEP 6

Leptin receptor LEPR 6

Leukaemia inMbitory factor LIF 6

Leukaemia inMbitory factor receptor LIFR 6

Leukin 4

Leukocyte-specific transcript 1 LST-1 4

Leukotriene A4 hydrolase 4

Leukotriene A4 synthase LTA4S 1

Leukotriene B4 receptor 4

Leukotriene B4 synthase LTB4S 1 Leukotriene C4 receptor 4

Leukotriene C4 synthase LTC4S 1

Leukotriene D4/E4 receptor 4

LH/choriogonadotropm (CG) receptor LHCGR 6

LIM homeobox protein 1 LHX1 6

LIM homeobox protein 2 LHX2 6

LIM homeobox protein 3 LHX3 6

LIM homeobox protem 4 LHX4 6

LIM homeobox transcription factor 1, beta LMX1B 6

Limb girdle muscular dystiophy 1 A LGMD1A 6

Limb girdle muscular dystiophy 1 B LGMDI B 6

Limb girdle muscular dystiophy 2G LGMD2G 6

Lünb girdle muscular dystiophy 2H LGMD2H 6

Limbic associated membrane protein LAMP 6

LIM-domain oMy protein 1 LM01 6

LIM-domain oMy protein 2 LM02 6

LIM-domain oMy protein 3 LM03 6

LIM-domain oMy protein 4 LM04 6

Lipoma-preferred partner gene LPP 6

Lipoprotein receptor, Low Density LDLR 2

Lipoxygenase 12 (platelets) LOG12 4

Lipoxygenase 5 (leukocytes) 4

Long QT-type 2 potassium Channels LQT2, KCNH2 2

Loricrin LOR 3

Low density lipoprotein receptor-related protein LRP 2 precursor

Luteimzing hormone, beta chain LHB 6

Lymphoblastic leukemia derived sequence 1 LYL1 4

Lymphocyte-specific protein tymsme kinase LCK 4

Lymphoid enhancer-binding factor LEF-1 6

Lysosome-associated membrane protein 1 LAMP1 6

Lysosome-associated membrane protein 2 LAMP2 6

MAD (mothers against decapentaplegic, MADH2 6

DrosopMla) homologue 2

MAD (mothers against decapentaplegic, MADH3 6

DrosopMla) homologue 3

MAD (mothers against decapentaplegic, MADH4 6

DmsopMla) homologue 4

MADS box transcription-enhancer factor 2A MEF2A 6

MADS box transcription-enhancer factor 2B MEF2B 6

MADS box transcription-enhancer factor 2C MEF2C 6

MADS box transcription-enhancer factor 2D MEF2D 6

Malate dehydrogenase, mitochondrial MDH2 1

Malignant proliferation, eosmopMl gene MPE 4

Malonyl CoA decarboxylase

Malonyl CoA tiansferase

Mannosidase, alpha B lysosomal MANB Mannosidase, beta A lysosomal MANBA 1

MAPK Idnase 1 MAPKK1; MEK1 6

MAPK Idnase 4 MAPKK4; MEK4; 6

SERK1

MAPK kinase 6 MAPKK6;MEK6 6

MAPKK kinase MAPKKK 6

Matrix Gla protein MGP 6

Matrix metalloprotemase 1 NMP1

Matrix metalloprotemase 10 NMP10

Matrix metalloproteinase 11 MMP11

Matrix metalloprotemase 12 MMP12

Matrix metalloprotemase 13 MMP13

Matrix metalloprotemase 14 MMP14

Matrix metalloproteinase 15 MMP15

Matrix metalloproteinase 16 MMP16

Matrix metalloprotemase 17 MMP17

Matrix metalloprotemase 18 MMP18

Matrix metalloproteinase 19 MMP19

Matrix metalloproteinase 2 MMP2

Matrix metalloprotemase 3 MMP3, STMY1

Matrix metalloproteinase 4 MMP4

Matrix metalloproteinase 5 MMP5

Matrix metalloproteinase 6 MMP6

Matrix metalloproteinase 7 MMP7

Matrix metalloproteinase 8 MMP8

Matrix metalloproteinase 9 MMP9

MAX-interacting protem 1 MXI1 6

MEK kinase, MEKK 1

Melanocortin 1 receptor MC1R 2

Melanocortin 2 receptor MC2R 2

Melanocortin 4 receptor MC4R 2

Me n MEN1 6

Mesoderm-specific transcript MEST 6

MetMomne adenosyltiansferase MAT1A, MAT2A

MetMomne synthase MTR

MetMomne synthase reductase MTRR

Methylguamne-DNA methyltiansferase MGMT

Methylmalonyl-CoA mutase MUT

Mevalonate Idnase MVK

MHC Class 1: A 4

MHC Class 1: B 4

MHC Class 1: C 4

MHC Class 1: LMP-2, LMP-7 4

MHC Class l. Tapl ABCR,TAP1 4

MHC Class II: DP HLA-DPB1 4

MHC Class II: DQ 4

MHC Class II: DR 4 MHC Class II: Tap2 TAP2,PSF2 4

MHC Class ILComplementation group A MHC2TA 4

MHC Class ILComplementation group B RFXANK 4

MHC Class ILComplementation group C RFX5 4

MHC Class ILComplementation group D RFXAP 4

Microphthalmia-associated transcription factor MITF 6

Microsomal triglyceride transfer protem MTP 2

Microrable associated protem MAP 3

Midlme I MIDI 6

Mismatch repair gene, PMSL1 PMS1 6

Mismatch repair gene, PMSL2 PMS2 6

Mitochondrial trifunctional protein, alpha HADHA 1 subumt

Mitochondrial trifunctional protein, beta subimit HADHB 1

Mitogen-activated protein (MAP) kinase MAPK 6

Molybdenum cofactor synthesis 1 MOCS1 1

Molybdenum cofactor synthesis 2 MOCS2 1

Monoamme oxidase A MAOA 1

Monoamine oxidase B MAOB 1

Monocyte chemoattiactant protein 1 MCP1 4

Motilm MLN 6

Msh homeobox homolog 1 MSX1 6

Msh homeobox homolog 2 MSX2 6

Mucolipidoses GNPTA 1

Mulibrey namsm MUL 2

Multidrug resistance associated protem MRP 6

Muscarimc receptor, Ml CHRM1 5

Muscarimc receptor, M2 CHRM2 5

Muscarmic receptor, M3 CHRM3 5

Muscarimc receptor, M4 CHRM4 5

Muscarimc receptor, M5 CHRM5 5

Muscle phosphorylase PYGM 1

Mutated in colorectal cancers, MCC MCC 6

MutL homolog 1 MLH1 6

MutS homolog 2 MSH2 6

MutS homolog 3 MSH3 6

Myelin protein peripheral 22 PMP22 3

Myelin protem zero MPZ 3

Myelodysplasia syndrome 1 gene MDS1 6

Myeloid leukemia factor- 1 MLF1 4

Myocilin MYOC 2

Myogemc factor 3 MYF3 6

Myogemc factor 4 MYF4 6

Myogemc factor 5 MYF5 6

Myomesm 1 MYOM1 3

Myomesm 2 MYOM2 3

Myosin 15 MYO15 3 Myosm 6 MY06 3

Myosm 7A MY07A 3

Myosm, cardiac MYH7 3

MyoMbularin MTM1 3

Na+, K+ ATPase, alpha ATP1A1 6

Na+, K+ ATPase, beta 1 ATP1B1 6

Na+, K+ ATPase, beta 2 ATP1B2 6

Na+/H+ exchanger 1 NHE1 2

Na+/H+ exchanger 2 NHE2 2

Na+/H+ exchanger 3 NHE3 2

Na+/H+ exchanger 4 NHE4 2

Na+/H+ exchanger 5 NHE5 2

N-acetylgalactosamine-6-sulfate sulfatase GALNS 1

N-acetylglucosamine-6-sulfatase GNS 1

N-acetylglucosamimdase, alpha NAGLU 1

N-acetyltransferase 1 NAT1 1

N-acetyltransferase 2 NAT2 1

NADH dehydrogenase 1

NADH dehydrogenase (ubiquinone) Fe-S NDUFS1 1 protein 1

NADH dehydrogenase (ubiquinone) Fe-S NDUFS4 1 protem 4

NADH dehydrogenase (ubiqumone) NDUFV1 1 flavoprotein 1

NADH-cytocMome b5 reductase DIA1 1 reductase

NADPH-dependent cytocMome P450 POR 1 reductase

Natural resistance-associated macrophage NRAMP1 4 protein 1

NB6 4

Necdin NDN 6

NepMonophtMsis 1 NPHP1 2

NepMonophtMsis 2 NPHP2 2

NepMosis 1 NPHS1 2

Nerve growth factor NGF 6

Nerve growth factor receptor NGFR 6

Neural retina-specific gene NRL 6

Neuramimdase sialidase NEU 2

Neuregulin HGL 6

Neurite growth-promotmg factor 2 MDK 5

Neurite inMbitory protein 5

NeuroendocrMe convertase 1 NEC1. PCSK1 1

Neurofibromin 1 NFI 6

Neurofibromin 2 NF2 6

Neurofliament protein, heavy NFH 3

Neurofliament protein, NF68 NF68 3 Neuronal apoptosis inMbitory protem NAIP 4

Neuronal molecule- 1 4

Neuronal molecule- 1 receptor 4

Neuropeptide Y NPY 5

Neuropeptide Y receptor Yl NPY1 R 5

Neuropeptide Y receptor Y2 NPY2R 5

NeurotiopMc tyrosine kinase receptor 1 NTRK1 6

NeurotropMn 3 NTF3 orNT3 6

Neurturin NRTN 6

Neutral endopeptidase 1

NeutiopMl cystolic factor 1 NCF1

NeutiopMl cystolic factor 2 NCF2

Niacin receptor 6

Nibrin NBS1 6

Nitiic oxide synthase 1, NOSl NOSl 1

Nitric oxide synthase 2, NOS2 NOS2 1

Nitric oxide synthase 3, NOS3 NOS3 1

Nodal NODAL 6

Noggin NOG 6

Norrie disease protein NDP 6

Notch 1 NOTCH1 6

Notch 2 NOTCH2 6

Notch 3 NOTCH3 6

Notch ligand -jagged 1 JAG 1, AGS 6

Nuclear factor I-kappa-B-like gene IKBL 4

Nuclear factor kappa beta NFKB 4

Nuclear factor of activated T cells (NFAT) NFATC 6 complex, cytosolic

Nuclear factor of activated T cells (NFAT) NFATP 6 complex, preexisting component

Nuclear mitotic apparatus protein 1 NUMA1 6

Nucleophosmin NPM1 2

Nucleoside diphosphate kinase-A NDPKA 1

Ocular albmism 1 OA1 3

Oculocutaneous albmism II OCA2 3

OIigopMenm-1 OPHN1 6

Oncogene abll ABL1 6

Oncogene abl2 6

Oncogene aktl 6

Oncogene akt2 AKT2 6

Oncogene axl AXL 6

Oncogene bcl2 6

Oncogene bcr/abl 6

Oncogene B-lym 6

Oncogene B-raf 6

Oncogene clkl 6

Oncogene c-myc 6 Oncogene cot 6

Oncogene crk 6

Oncogene crkl 6

Oncogene ect2 6

Oncogene ELK1 ELK1 6

Oncogene ELK2 ELK2 6

Oncogene emsl 6

Oncogene ERB 6

Oncogene ERB2 6

Oncogene ERBA 6

Oncogene ERBAL2 6

Oncogene ERG (early reponse gene) 6

Oncogene ETS1 6

Oncogene ETS2 6

Oncogene EVI1 EVI 1 6

Oncogene fes 6

Oncogene fgr 6

Oncogene fos FOS 6

Oncogene fps 6

Oncogene GLI1 GLI 6

Oncogene GLI2 GLI2 6

Oncogene GLI3 GLI3 6

Oncogene grol 6

Oncogene gro2 6

Oncogene Ha-ras HRAS 6

Oncogene hsl 6

Oncogene hst FGF4 6

Oncogene intl WNT1 6

Oncogene int2 FGF3 6

Oncogene int3 Notch4 6

Oncogene int4 WNT3 6

Oncogene jun JUN 6

Oncogene KIT KIT, PBT 6

Oncogene LCO LCO 6

Oncogene I-myc 6

Oncogene Ipsa 6

Oncogene lyn 6

Oncogene maf 6

Oncogene masl 6

Oncogene mcf2 6

Oncogene mdm2 MDM2 6

Oncogene mel 6

Oncogene met MET 6

Oncogene mos 6

Oncogene mpl 6

Oncogene MUM1 MUM1 6

Oncogene myb MYB 6 Oncogene myc MYC 6

Oncogene n-myc 6

Oncogene N-ras (neuroblastoma v-ras) NRAS 6

Oncogene ovc 6

Oncogene pimi 6

Oncogene pti-lsea 6

Oncogene pvtl 6

Oncogene raf RAF 6

Oncogene ralb 6

Oncogene rel 6

Oncogene ret RET 6

Oncogene r-myc 6

Oncogene ros 6

Oncogene R-ras 6

Oncogene sis PDGFB 6

Oncogene sM 6

Oncogene sno 6

Oncogene spil 6

Oncogene src 6

Oncogene tc21 6

Oncogene TEL ETV6 6

Oncogene tim 6

Oncogene vavtrk 6

Oncogene v-Ki-ras2 KRAS2 6

Oncogene yes 6

Oncogene yuasa 6

Oncostatin M OSM 6

Oncostatin M receptor OSMR 6

Orexin OX 6

Orexin 1 receptor OXIR 6

Orexin 2 receptor OX2R 6

OmitMne delta-aminotransferase OAT 1

OmitMne transcarbamoylase OTC, NMEl 1

Orthodenticle (DrosopMla) homolog 1 OTX1 6

Orthodenticle (DrosopMla) homolog 2 OTX2 6

Osteocalcin 3

Osteonectin ON 6

Osteopontin OPN 6

Osteoprotegerin OPG 6

Otoferlin OTOF 5

Oxytocin OXT 5

Oxytocm receptor OXTR 5 p21 -activated Idnase 3 PAK3 6

Paired box homeotic gene 1 PAX1 6

Paired box homeotic gene 2 PAX2 6

Paired box homeotic gene 3 PAX3 6

Paired box homeotic gene 6 PAX6 6 Paired box homeotic gene 7 PAX7 6

Paired box homeotic gene 8 PAX8 6

Paired-like homeodomain transcription factor 2 PITX2 6

Paired-like homeodomain tianscription factor 3 PITX3 6

Palmitoyl-protem tMoesterase PPT 2

Pancreatic amylase 1

Parathyroid hormone PTH 6

Parathyroid hormone receptor PTHR1 6

Parathyroid hormone related-peptide PTHRP 6

Parathyroid hormone-like hormone PTHLH 6

Parvalbumin PVALB 6

Patched (DrosopMla) homolog, PTCH PTCH 6

PCNA (proliferating cell nuclear antigen) 1

Peanut-like 1 PNUTL1 4

Pendrin, PDS PDS 2

Peptidylglycme alpha-amidating PAM 1 monooxygenase

Peripherin, PRPH 3

Peroxisomal membrane protem 1 PXMP1 3

Peroxisomal membrane protein 3 PXMP3 2

Peroxisome biogenesis factor 1 PEX1 2

Peroxisome biogenesis factor 19 PEX19 2

Peroxisome biogenesis factor 6 PEX6 2

Peroxisome biogenesis factor 7 PEX7 2

Peroxisome proliferative activated receptor, PPARA 2 alpha

Peroxisome proliferative activated receptor, PPARG 2 gamma

Peroxisome receptor 1 PXR1 2

Phenylethanolamine N-methyltiansferase, PNMT 1

PNMT

Phosphatase & tensin homolog PTEN 6

Phosphate regulating gene with homologies to PHEX 6 endopeptidases on the X cMomosome

Phosphatidylinositol glycan, class A PIGA 6

(paroxysmal nocturnal hemoglobmuria)

Phosphatidylinositol transfer protem PITPN 6

Phosphodiesterase 1/ nucleotide PDNP1 6 pyrophosphatase 1

Phosphodiesterase 1 / nucleotide PDNP2 6 pyrophosphatase 2

Phosphodiesterase 1 / nucleotide PDNP3 6 pyrophosphatase 3

Phosphofructoldnase, liver PFKL 1

Phosphofructokinase, muscle PFKM 1

Phosphoglucose isomerase GPI 1

Phosphoglycerate Idnase 1 PGKL 1 Phosphoglycerate mutase 2 PGAM2 1

Phospholipase A2, group 10 PLA2G10 4

Phospholipase A2, group IB PLN2G1B 4

Phospholipase A2, group 2A PLN2G2N 4

Phospholipase A2, group 2B PLA2G2B 4

Phospholipase A2, group 4N PLA2G4A 4

Phospholipase A2, group 4C PLA2G4C 4

Phospholipase A2, group 5 PLA2G5 4

Phospholipase A2, group 6 PLA2G6 4

Phospholipase C alpha 4

Phospholipase C beta 4

Phospholipase C delta PLCD1 4

Phospholipase C epsilon 4

Phospholipase C gamma PLCG1 4

Phosphomannomutase 1 PMM1 6

Phosphomannomutase 2 PMM2 6

Phosphomannomutase 2 PMM2 2

Phosphorylase Idnase deficiency, liver PHK 1

Phosphorylase kinase, alpha 2 PHKA2 1

Phytanoyl-CoA hydroxylase PHYH 6

PlakopMlin 1 PKP1 2

Plasminogen PLG 1

Plasmmogen activator inMbitor 1 PAH 1

Plasminogen activator mMbitor 2 PAI 2 1

Plasmmogen activator receptor, Urokinase UPAR;PLAUR 3

Plasminogen activator, Tissue PLAT;TPA 1

Plasminogen activator, Urokinase UPA;PLAU 1

Platelet derived growth factor PDGF 6

Platelet derived growth factor receptor PDGFR 6

Plectin 1 PLEC1 2

Poly (ADP-ribose) synthetase PARS 1

Poly(A) binding protein 2 PABP2 6

Postsynaptic density-95 protein PSD95 5

Potassium inwardly-rectifymg channel Jl KCΝJL 5

Potassium inwardly-rectifying channel Jl 1 KCΝJL11 5

Potassium voltage-gated channel AI KCΝA1 5

Potassium voltage-gated channel El KCΝE1 5

Potassium voltage-gated channel Ql KCΝQ1 5

Potassium voltage-gated channel Q2 KCΝQ2 5

Potassium voltage-gated channel Q3 KCNQ3 5

Potassium voltage-gated channel Q4 KCNQ4 5

POU domam, class 1, tianscription factor 1 POUIFI 6

(Piti)

POU domam, class 3, tianscription factor 4 POU3F4 6

POU domain, class 4, transcription factor 3 POU4F3 6

Pre-B-cell leukemia tianscription factor 1 PBX1 6

Preproglucagon GCG;GLPL; GLP2 6 Procoliagen N-protease 1

Procollagen peptidase 1

Profibrinolysin 6 receptor)

ProMbitin PHB 6

Prolactin PRL 6

Prolactin receptor PRLR 6

Prolactin releasmg hormone PRH 6

Proliferin PLF 6

Prolme dehydrogenase PRODH 1

Pro-melamn-concentrating hormone PMCH 6

Promyelocytic leukemia gene PML 6

Proopiomeianocortin POMC 5

Prophet of Pitl PROP1 6

Propionyl-CoA carboxylase, alpha PCCA 1

Propionyl-CoA carboxylase, beta PCCB 1

Prosaposin PSAP 5

Prostaglandin (PG) D synthase, hematopoietic PGDS 1

Prostaglandin isomerase 6

Prostaglandin-endoperoxidase synthase 2 PTGS2 6

Prostate cancer anti-metastasis gene KAI 1 KAI 1 6

Protease nexin 2 PN2 1

Protective protein for beta-galactosidase PPGB 1

Protein C PROC 4

Protein kinase A 1

Protein kMase B PRKB

Protein kinase C, alpha PRKCA 1

Protem kinase C, gamma PRKCG 1

Protein kinase DNA-activated PRKDC 1

Protem kinase G 1

Protein phosphatase 1, regulatory (inMbitor) PPP1R3 1 subumt 3

Protein phosphatase 2, regulatory subumt A, PPP2R1B 1 beta isoform

Protein tyrosine phosphatase, non-receptor PTPN12 6 type 12

Protoporphyrinogen oxidase PPOX 1

Pteιin-4-alpha-carbinolamine PCBD

Purine nucleoside phosphorylase NP 1

Purinergic receptor Pl AI 5

Purinergic receptor Pl A2 5

Purinergic receptor P1A3 5

Purinergic receptor P2X, 1 P2RX1 5

Purinergic receptor P2X, 2 P2RX2 5

Purinergic receptor P2X, 3 P2RX3 5

Purinergic receptor P X, 4 P2RX4 5

Purinergic receptor P2X, 5 P2RX5 5 Purinergic receptor P9X, 6 P2RX6 5

Purinergic receptor P2X, 7 P2RX7 5

Purinergic receptor P2Y, 1 P2RY1 5

Purinergic receptor P2 Y, 11 P2RY11 5

Purinergic receptor P2Y, 2 P2RY2 5

Pyrroline-5-carboxylate synthetase PYCS 1

Pyruvate carboxylase PC 1

Pyruvate decarboxylase PDHA 1

Pyruvate Idnase PKLR 1

RAD51 , DNA repair protein RAD51 6

RAD52, DNA repair protem RAD52 6

RAD54, DNA repair protein RAD54 6

RAD55, DNA repair protein RAD55 6

RAD57, DNA repair protem RAD57 6

Ras-G-protein RAS 6

Rathke pouch homeobox, RPX RPX 6

Receptor tyrosine kinase (RTK), Nsk2 NSK2 6

Recombination activating gene 1 RAG1 6

Recomb ation activating gene 2 RAG2 6

Red cone pigment RCP 3

Relaxin Hl RLN1 6

Relaxin H2 RLN2 6

Replication factor A 1

Replication factor C RFC2 1

Retinal pigment epithelium specific protem RPE65 3

(65kD)

Retimtis pigmentosa gene 1 RP1 3

Retmitis pigmentosa gene 2 RP2 3

Retimtis pigmentosa gene 3 RP3 3

Retimtis pigmentosa gene 6 RP6 3

Retimtis pigmentosa gene 7 RP7, RDS 3

Retmoblastoma 1 RB1 6

Retinoic acid receptor, alpha RARA 6

Retinoic acid receptor, beta RARB 6

Retinoic acid receptor, gamma RARG 6

Retinoid X receptor, alpha RXRA 6

Retinoid X receptor, beta RXRB 6

Retinoid X receptor, gamma RXRG 6

RetinoscMsis, X-linked, juvemle RS 6

Rhabdoid tumors SMARCB1 6

Rhodopsm RHO 3

Ribonucleotide reductase, RRM 1

Ribosomal protem L13A RPL13A 6

Ribosomat protem L17 RPL17 6

Ribosomal protem S19 RPS19 1

Ribosomal protem S4, X-lmked RPS4X 1

Ribosomat protem S6 Idnase RPS6KA3 1 Ribosomal protem S9 RPS9 6

RIGUI RIGUI 6

Rod outer segment membrane protem 1 ROM1 3

Ryanodme receptor 1, skeletal RYR1 6

SA homolog SAH 6

Sal-like 1 SALL1 6

Secretin SCT 2

Semaphorin A4 SEMA4 3

Semaphorin A5 SEMA5 3

Semaphorin D 3

Semaphorin E SEMAE 3

Semaphorin F SEMA3/F 3

Semaphorin W SEMAW 3

Serine/tiireomne kinase 11 STK11 6

Serine/tMeonme Idnase 2 STK2 6

Serotomn N-acetyltransferase SNAT 1

Serotomn receptor, 5HT1 A HTR1A 5

Serotomn receptor, 5HT1B HTR1B 5

Serotomn receptor, 5HT1C HTR1C 5

Serotomn receptor, 5HT1D HTR1D 5

Serotomn receptor, 5HT1E HTR1E 5

Serotomn receptor, 5HT1F HTR1F 5

Serotomn receptor, 5HT2A HTR2A 5

Serotomn receptor, 5HT2B HTR2B 5

Serotomn receptor, 5HT2C HTR2C 5

Serotomn receptor, 5HT3 HTR3 5

Serotomn receptor, 5HT4 HTR4 5

Serotomn receptor, 5HT5 HTR5 5

Serotomn receptor, 5HT6 HTR6 5

Serotomn receptor, 5HT7 HTR7 5

Serum amyloid A SAA 2

Serum amyloid P SAP 2

Sex determimng region Y, SRY SRY 6

Short stature homeobox SHOX 6

Sialoprotein, bone BSP 6

Signal transducer and activator of transcription STAT1 6

1 1

Signal transducer and activator of tianscription STAT2 6

2

Signal transducer and activator of tianscription STAT3 6

3

Signal tiansducer and activator of tianscription STAT4 6

*τ

Signal tiansducer and activator of tianscription STAT5 6

5

Signaimg lymphocyte activation molecule SLAM 4

Sme oculis homeobox, drosopMla, homolog 1 SKI 6 Sine oculis homeobox, drosopMla, homolog 2 SIX2 6

Sine oculis homeobox, drosopMla, homolog 5 SK5 6

Sjoegren (Sjogren) syndrome antigen AI SSAL 4

Slug protein 6

Small nuclear ribonucleoprotem polypeptide N SNRPN 3

Smoothelin SMTN 6

Smoothened (DrosopMla) homolog SMOH 6

Sodium channel, non-voltage gated 1, alpha SCNNIA 5

Sodium channel, non-voltage gated 1, beta SCNNIB 5

Sodium channel, non-voltage gated 1, gamma SCNNIG 5

Sodium channel, voltage gated, type IV, alpha SCN4A 5 polypeptide

Sodium channel, voltage gated, type V, alpha SCN5A polypeptide

Sodium channel, voltage-gated, type 1, beta SCN1B 5 polypeptide

Solute carrier family 1 (amino acid transporter), SLC1A6 2 member 6

Solute carrier family 1 (glial Mgh affimty SLClA3 2 glutamate transporter), member 3

Solute carrier family 1 (glutamate transporter), SLC1A1 2 member 1

Solute carrier family 1 (glutamate transporter), SLC1A2 2 member 2

Solute carrier family 1 (neutral ammo acid SLC1A4 2 tiansporter), member 4

Solute carrier family 10 (sodium/bile acid SLC10A1 2 cotransporter family), member 1

Solute carrier family 10 (sodium/bile acid SLC10A2 2 cotransporter family), member 2

Solute carrier family 12, member 1 SLC12A1 2

Solute carrier family 12, member 2 SLC12A2 2

Solute carrier family 12, member 3 SLC12A3 2

Solute carrier family 14, member 2 SLC14A2 2

Solute carrier family 15 (H+/peptide SLC15A1 2 transporter, intestinal), member 1

Solute carrier family 15 (H+/peptide SLC15A2 2 transporter, kidney), member 2

Solute carrier family 16 (monocarboxylate SLC16A1 2 tiansporter), member 1

Solute carrier family 16 (monocarboxylate SLC16A7 2 tiansporter), member 7

Solute carrier family 17, member 1 SLC17A1 2

Solute carrier family 17, member 2 SLC17A2 2

Solute carrier family 18, member 3 SLC18A3 2

Solute carrier family 19 (folate tiansporter), SLC19A1 2 member 1 Solute carrier family 2 (facilitated glucose SLC2A1 2 tiansporter), member 1

Solute carrier family 2 (facilitated glucose SLC2A2 2 transporter), member 2

Solute carrier family 2 (facilitated glucose SLC2A3 2 tiansporter), member 3

Solute carrier family 2 (facilitated glucose SLC2A4 2 tiansporter), member 4

Solute carrier family 2 (facilitated glucose SLC2A5 2 transporter), member 5

Solute carrier family 20, member 1 SLC20A1 2

Solute carrier family 20, member 2 SLC20A2 2

Solute carrier family 20, member 3 SLC20A3 2

Solute carder family 21, member 2 SLC21A2 2

Solute carrier family 21, member 3 SLC21A3 2

Solute carrier family 22, member 1 SLC22A1 2

Solute carrier family 22, member 2 SLC22A2 2

So ute carrier family 22, member 5 SLC22A5 2

Solute carrier family 25, member 12 SLC25A12 2

Solute carrier family 3 (facilitated glucose SLC3A1 2 transporter), member 1

Solute carrier family 4 (amon exchanger), SLC4A1 2 member 1

Solute carrier family 4 (amon exchanger), SLC4A2 2 member 2

Solute carrier family 4 (amon exchanger), SLC4A3 2 member 3

Solute carrier family 5 (sodium/glucose SLC5A1 2 tiansporter), member 1

Solute carrier family 5 (sodium/glucose SLC5A2 2 tiansporter), member 2

Solute carrier family 5 (sodium/glucose SLC5A5 2 transporter), member 5

Solute carrier family 5, member 3 SLC5A3 2

Solute carrier family 6 (GAMMA- SLC6A1 2

AMINOBUTYRIC ACID tiansporter), member 1

Solute carrier family 6 (neurotransmitter SLC6A3 2 tiansporter, dopamine), member 3

Solute carrier family 6 (neurotransmitter SLC6A2 2 tiansporter, noradrenalme), member 2

Solute carder family 6 (neurotiansmitter SLC6A4 2 tiansporter, serotonin), member 4

Solute carrier family 6, member 10 SLC6A10 2

Solute carrier family 6, member 6 SLC6A6 2

Solute carrier family 6, member 8 SLC6A8 2

Solute carrier family 7(ammo acid tiansporter), SLC7A1 2 member 1 Solute carrier family 7(amino acid tiansporter), SLC7A2 2 member 2

Solute carrier family 7(amino acid transporter), SLC7A7 2 member 7

So ute carrier family 8 (sodium calcium SLC8A1 exchanger), member 1

Somatostatin receptor, SSTR2 SSTR2 6

SomatotropMn 6

Somc hedgehog, SHH SHH 6

Sorbitol dehydrogenase SORD 1

Sorcin SRI 2

SOSI guamne nucleotide exchange factor SOSI 6

Spastic paraplegia 7 SPG7 6

Spectrin alpha SPTAL 3

Spectdn beta SPTB 3

Sperm adhesion molecule SPAMI 6

Sperm prolamine Pl PRM1 6

Sperm prolamme P2 PRM2 6

SpMngomyelinase SMPDI 1

Spinocerebellar ataxia 8 gene SCA8 5

Split hand/foot malformation gene DSS1 6

SRY-box 10 SOX10 6

SRY-box l l SOX11 6

SRY-box 3 SOX3 6

SRY-box 4 SOX4 6

SRY-box 9 SOX9 6

Stern cell factor SCF 6

Steroid 5 alpha reductase 1 SRD5A1 1

Steroid 5 alpha reductase 2 SRD5A2 1

Steroid hormone receptor responsive DNA 6 elements

Steroid sulphatase STS 1

Steroidogemc acute regulatory protein STAR 2

Stromal derived factor 1 SDF1 6

Succinate dehydrogenase 1 SDH1 1

Succmate dehydrogenase 2 SDH2 1

Succinate tMokinase 1

Succimc semi-aldehyde dehydrogenase SSADH 1

Suffa idase SGSH 6

Sulfite oxidase SUOX 1

Sulfonylurea receptor SUR 6

Suppression of tumorigemcity 3 gene ST3 6

Suppression of tumorigemcity 8 gene ST8 6

Surfactant pulmonary-associated protein AI SFTPA1 2

Surfactant pulmonary-associated protein A2 SFTPA2 2

Surfactant pulmonary-associated protem B SFTPB 2

Surfactant pulmonary-associated protem C SFTPC 2 Surfactant pulmonary-associated protein D SFTPD 2

Surfeit 1 SURF1 6

Survival of motor neuron 1, telomeric SMN1 2

SYK-related tyrosme Idnase SRK 4

Syndecan 1 SYND1 6

Syndecan 2 SYND2 6

Syndecan 3 SYND3 6

Syndecan 4 SYND4 6

Synovial sarcoma gene 1 SSX1 6

Synovial sarcoma gene 2 SSX2 6

Talin TLN 6

TATA bmding protein TBP 6

TATA binding protein associated factor 2A TAF2A 6

TATA binding protein associated factor 2C2 TAF2C2 6

TATA binding protein associated factor 2D TAF2E 6

TATA bindmg protein associated factor 2F TAF2F 6

TATA bmding protein associated factor 2H TAF2H 6

TATA binding protem associated factor 21 TAF21 6

TATA binding protein associated factor 2J TAF2J 6

TATA binding protein associated factor 2K TAF2K 6

Tau protein MAPT 3

T-BOX 1 TBX1 6

T-BOX 2 TBX2 6

T-BOX 3 TBX3 6

T-BOX 4 TBX4 6

T-BOX 5 TBX5 6

T-BOX 6 TBX6 6

T-cell acute lymphocytic leukemia 1 TAL1 4

T-cell acute lymphocytic leukemia 2 TAL2 4

T-cell receptor, alpha TCRA . 4

T-cell receptor, delta TCRD 4

Telomerase protein component 1

Tenascin (cytotactin) 3

Tenascin XA TNXA 3

Termmal deoxynucleotidyltiansferase, TDT 1

Testis-specific protein Y TSPY 6

TMolase, perioxisomal 1

TMopurine S-methyltransferase TPMT 1

TMombopoietm THPO 6

TMombospondin THBS1 6

TMomboxane A synthase 1 TBXAS1 4

TMomboxane A2 TXA2 4

TMomboxane A2 receptor TBXA2R 4

Thy-1 T-cell antigen THY1 4

Thymidylate synthase TYMS 1

Thymopoietin TMPO 6

Thyroglobulm TG 6 Thyroid hormone receptor, alpha THRA 6

Thyroid hormone receptor, beta THRB 6

Thyroid peroxidase TPO 6

Thyroid receptor auxiliary protem TRAP 6

Thyroid-stimulating hormone receptor TSHR 6

Thyroid-stimulating hormone, alpha TSHA 6

Thyroid-stimulating hormone, beta TSHB 6

Thyrotioph embryomc factor TEF 6

Thyrotropin releasing hormone TRH 6

Thyrotiopm releasing hormone receptor TRHR 6

Thyroxm-bmding globulin TBG 2

TIE receptor tyrosme kinase TIE-1 6

Tip-associated protein TAP 4

Tissue inMbitor of metalloproteinase 1, TIMP1 TIMP1

Tissue inMbitor of metalloprotemase 2, TIMP2 TIMP2

Tissue Mbitor of metalloprotemase 3, TIMP3 TIMP3

Tissue inMbitor of metalloproteinase 4, TIMP4 TIMP4

Tissue non-specific alkaline phosphatase

TNSAP

Titin TTN 3

Tocopherol (alpha) transfer protem TTPA 2

Toll-like receptor 4 TLR4 4

Topoisomerase I 1

Topoisomerase II 1

Torticolhs, keloids, cryptorcMdism and renal TKCR 6 dysplasia gene

Transacylase 1

Transcobalamin 1, TCN1 2

Transcobalamin 2, TCN2 TCN2 2

Transcription factor 1, hepatic TCF1 6

Transcription factor 2, hepatic TCF2 6

Transcription factor 3 TCF3 6

Transcription factor binding to IGHM enhancer TFE3 6

3

Transcription factor, TUPLE1 TUPLE1 5

Transcription termmation factor, RNA TTF1 6 polymerase 1

Transcription termination factor, RNA TTF2 6 polymerase 2

Transcription termination factor, RNA TTF3 6 polymerase 3

Transferrin TF 6

Transferrin receptor TFRC 6

TransformMg growth factor, alpha TGFA 6

Transform g growth factor, beta 2 TGFB2 6

Transforming growth factor, beta Mduced TGFB1 6

TransformMg growth factor, beta receptor 2 TGFBR2 6 Transglutammase 1 TGMI 6

Transglutaminase 2 TGM2 6

Transglutammase 4 TGM4 6

Transketolase TKT 1

Transketolase-like 1 TKTL1 1

Translocation m renal carcinoma on TRC8 6 cMomosome 8 gene

Transthyretin TTR 2

Treacle gene TCOF1 6

Triosephosphate isomerase TPI 1 1

Tropomyosin 1 alpha TPM1 3

Tropomyosin 3 (non-muscle) TPM3 3

Tropomn C 3

Tropomn I TNNI3 3

Tropomn T2, cardiac TNNT2 3

Trypsin inMbitor 1

Trypsmogen 1 TRY1 1

Trypsinagen 2 TRY2 1

Tryptophan hydroxylase TPH 1

Tubby-like protein 1 TULP1 6

Tuberous sclerosis 1 TSC1 6

Tuberous sclerosis 2 TSC2 6

Tubulin 3

Tumour necrosis factor (TNF) receptor TRAF1 4 associated factor 1

Tumour necrosis factor (TNF) receptor TRAF2 4 associated factor 2

Tumour necrosis factor (TNF) receptor TRAF3 4 associated factor 3

Tumour necrosis factor (TNF) receptor TRAF4 4 associated factor 4

Tumour necrosis factor (TNF) receptor TRAF5 4 associated factor 5

Tumour necrosis factor (TNF) receptor TRAF6 associated factor 6

Tumour necrosis factor alpha TNFA 4

Tumour necrosis factor alpha receptor TNFAR 4

Tumour necrosis factor beta TNFB 4

Tumour necrosis factor beta receptor TNFBR 4

Tumour protem p53 TP53,P53 6

Tumour protein p63 TP63 6

Tumour protein p73 TP73 6

Tumour protem, transiationally-controlled 1 TPT1 6

Tumour suppresssor gene DRA DRA 4

Twist (DrosopMla) homolog TWIST 6

Tyrosmase TYR 1

Tyrosinase-related protein 1 TYRP1 1 Tyrosme aminotransferase TAT 1

Tyrosme hydroxylase TH 1

Ubiquitin 6

Ubiquitin activating enzyme, El 1

Ubiquitin B UBB 6

Ubiquitin C UBC 6

Ubiquitin carboxyl-terminal esterase Ll UCHL1 6

Ubiquitin fusion degeneration I-like UFD1L 6

Ubiquitin protein ligase E3 A UBE3A 1

UDP-glucose pyrophosphorylase 1

UDP-glucuronosyltransferase 1 ugtld, UGT1 1

UDP-glucuronosyltransferase 2 UGT2 1

Uncoupling protein 1 2

Uncoupling protein 3 UCP3 2

Undulin 1 COL14A1 3

Uridine monophosphate kinase UMPK 4

Uridine monophosphate synthetase UMPS 4

Uridinediphosphate(UDP)-galactose-4- GALE 1 epimerase

Uroporphyrinogen decarboxylase UROD 1

Uroporphyrinogen III synthase UROS 1

Usher syndrome 2A USH2A 3

Vascular endothelial growth factor VEGF 6

VasoinMbitory peptide 6

Vitamm B12-bmding (R) protein 6

Vitamin D receptor VDR 6

Vitelliform macular dystiophy, atypical gene VMD1 2 v-myc avian myelocytomatosis viral oncogene MYC 6 homolog

Von Hippel-Lmdau gene VHL 6

Werner syndrome helicase WRN 6

Wilms tumour gene 1 WT1 6

Wilms tumour gene 2 WT2 6

Wilms tumour gene 4 WT4 6

Wmged helix nude WHN 6

Wingless family, wnt2 WNT2 6

Wmgless family, wnt4 WNT4 6

Wingless family, wnt5 WNT5 6

Wingless family, wnt7 WNT7 6

Wingless family, wntδ WNT8 6

Wiskoft-Aldrich syndrome protein WASP, THC 4

Wnt inMbitory factor, WIF-1 WIF1 6

Wolf-Hirschhorn syndrome candidate 1 gene WHSC1 6

Wolfram syndrome 1 gene WFS1 3

X (inactive)-specific transcript XIST 6

XantMne dehydrogenase XDH 1 Xeroderma pigmentosum, complementation XPA group A

Xeroderma pigmentosum, complementation XPB group B

Xeroderma pigmentosum, complementation XPC group C

Xeroderma pigmentosum, complementation group D

Xeroderma pigmentosum, complementation group E

Xeroderma pigmentosum, complementation XPF group F

Xeroderma pigmentosum, complementation ERCC5 group G

X-ray repair gene XRCC9 6

Xylitol dehydrogenase 6

YY1 tianscription factor YY1 6

Zmc finger protein 2 ZIC2 3

Zinc finger protein 3 ZIC3 3

Zinc finger protein HRX ALLl 4

Zona pellucida glycoprotein I ZPl 6

Zona pellucida glycoprotem 2 ZP2 6

Zona pellucida glycoprotein 3 ZP3 6

Zona pellucida receptor tyrosine kinase ZRK 6

Zonadhesin ZAN 6

Legende für die Spalte Proteinfunktion:

1 Enzym 2 Transport und Lagerung

3 Stmktur 4 Immumtät

5 Nervale Transmission 6 Wachstum und Differenzierung

Tabelle 13

Fehlfunktion, Schädigung oder Erkrankung der Haut, der Muskeln, des Bindegewebes oder der Knochen

Liste der Gene HUGO Protein-

Gensymbol funktion

17beta Hydroxysteroid oxidoreductase 1

5, 10-methylenetettahydrofolate reductase MTHFR 1

(NADPH)

6-Phosphofructo-2-kinase PFKFB1 1

Acetoacetyl 2-CoA-tMolase ACAT2 1

Acetylcholine receptor, mcotimc, alpha AI CHRNA1 5

Acetylcholme receptor, nicotimc, alpha A2 CHRNA2 5

Acetylcholine receptor, nicotimc, alpha A3 CHRNA3 5

Acetylcholme receptor, nicotimc, alpha A4 CHRNA4 5

Acetylcholine receptor, nicotimc, alpha A5 CHRNA5 5

Acetylcholine receptor, nicotimc, alpha A6 CHRNA6 5

Acetylcholine receptor, nicotimc, alpha A7 CHRNA7 5

Acetylcholine receptor, nicotimc, beta 1 CHRNB1 5

Acetylcholme receptor, mcotimc, beta 2 CHRNB2 5

Acetylcholine receptor, mcotimc, beta 3 CHRNB3 5

Acetylcholine receptor, nicotmic, beta 4 CHRNB4 5

Acetylcholme receptor, mcotimc, epsilon CHRNE 5

Acetylcholine receptor, nicot mc, gamma CHRNG 5

Acetylcholmesterase ACHE 1

AcMomatopsia 2 ACHM2 3

Acid phosphatase 2, lysosomal ACP2 1

Actin, alpha, cardiac ACTC 3

Actin, alpha, skeletal ACTA1 3

Actin, alpha, smooth, aortic ACTA2 3

Actin, beta ACTB 3

Actin, gamma 2 ACTG2 3

Activin 6

Acyl CoA dehydrogenase, short chain ACADS 1

Acyl-CoA tMoesterase 1

Adaptin, beta 3A ADTB3A 2

Adduc , alpha ADD1 3

Adducin, beta ADD2 3

Adenosine deammase ADA 1

Adenosme monophosphate deaminase AMPD 1

Adenosine receptor AI ADORA1 5

Adenosine receptor A2A ADORA2A 5

Adenosme receptor A26 ADORA2B 5

Adenosme receptor A3 ADORA3 5

Adenyl cyclase 5

Adenylate cyclase 1 ADCY1 1 Adenylate cyclase 2 ADCY2

Adenylate cyclase 3 ADCY3

Adenylate cyclase 4 ADCY4

Adenylate cyclase 5 ADCY5

Adenylate cyclase 6 AOCY6

Adenylate cyclase 7 ADCY7

Adenylate cyclase 8 ADCY8

Adenylate cyclase 9 ADCY9

Adenylate Idnase AK1

Adenylosuccinate lyase ADSL

Adrenergic receptor, alphal ADRA1 5

Adrenergic receptor, alpha2 ADRA2 5

Adrenergic receptor, betal ADRB1 5

Adrenergic receptor, beta2 ADRB2 5

Adrenergic receptor, beta3 ADRB3 5

AdrenocorticotropMc hormone (ACTH) ACTHR 6 receptor

Adrenoleukodystrophy gene ALD

Alamne armnotransferase 2

Alamne-glyoxylate aminotransferase AGXT

Albumm, ALB ALB 2

Alcohol dehydrogenase 1 ADH1

Alcohol dehydrogenase 2 ADH2

Alcohol dehydrogenase 3 ADH3

Alcohol dehydrogenase 4 ADH4

Alcohol dehydrogenase 5 ADH5

Alcohol dehydrogenase 6 ADH6

Alcohol dehydrogenase 7 ADH7

Aldehyde dehydrogenase 1 ALDH1

Aldehyde dehydrogenase 10 ALDH10

Aldehyde dehydmgenase 2 ALDH2

Aldehyde dehydrogenase 5 ALDH5

Aldehyde dehydrogenase 6 ALDH6

Aldehyde dehydrogenase 7 ALDH7

Aldolase A ALDOA

Aldolase B ALDOB

Aldolase C ALDOC

Aldosterone receptor MLR 6

Alkaline phosphatase, hver/bone/kidney ALPL 2

Alkaptonuria gene AKU 6

Alkylglycerone phosphate synthase AGPS 1 alpha tectorin TECTA 6 alpha thalassemia gene ATRX 5 alpha 1-antichymotiypsin AACT 1 alphal -antitrypsm Pl 1 alpha2-antiplasmin PLI 1 alpha-actimn 2 ACTN2 6 alpha-actmin 3 ACTN3 6 alpha-Galactosidase A GLA 1

Alpha-galactosidase B, GALB NAGA 1 alpha-synuclem SNCA 5

Amelogemn AMELX 3

Aminopeptidase P XPNPEP2 1

AmpMregulm AREG 6

Amylo- 1 ,6-glucosidase AGL 1

Amyloid beta A4 precursor protein APP 5

Amyloid beta A4 precursor-like protein APLP 5

Androgen binding protein ABP 2

Androgen receptor AR 6

Angiopoietin 1 ANGPT1 6

Angiopoietin 2 ANGPT2 6

Angiotensin converting enzyme ACE,DCPI 1

Angiotensinogen AGT 1

Antidiuretic hormone receptor ADHR 2

Anti-Mulledan hormone AMH 6

Apolipoprotein A 4 APOA4 2

Apolipoprotem A I APOA1 2

Apolipoprotein A II APOA2 2

Apolipoprotein B APOB 2

Apolipoprotein Cl APOC1 2

Apolipoprotein C2 APOC2 2

Apolipoprotein C3 APOC3 2

Apolipoprotein D APOD 2

Apolipoprotein E APOE 2

Apolipoprotein H APOH 2

Argimne vasopressin AVP 5

Argimne vasopressin receptor 1 A AVPR1A 5

Argimne vasopressin receptor IB AVPR1B 5

Argimne vasopressin receptor 2 AVPR2 5

Arrestin SAG 3

Aryi hydrocarbon receptor nuclear ARNT 2 translocator

Arylsuffatase A ARSA

Arylsulfatase B ARSB

Arylsulfatase C ARSCI

Arylsulfatase D ARSD

Arylsulfatase E ARSE

Arylsulfatase F ARSF

Aspartate receptor

Aspartoacylase ASPA

Aspartylglucosammidase AGA

Ataxia telangiectasia complementation group ATD,ATDC 6

D

Ataxia telangiectasia gene, AT ATM 6 ATP cobalamin adenoxyltransferase 1

ATP sulphurylase atpsk2 1

ATP/ADP translocase 1

Aftractin 4

Autoimmune regulator, AIRE AIRE 4

BCL2-related protem AI BCL2A1 6

Benzodiazepme receptor 5

Bestrop n VMD2 2 beta 2 Microglobulin B2M 4 beta-endorpMn receptor 5 beta-galactosidase GLBI 1 beta-Glucuromdase GUSB 1 beta-synuclein SNCB 5

Bilimbin UDP-glucuronosyltransferase 1

Bloom syndrome protein BLM 6

Blue cone pigment BCP 3

Bone morphogenetic protein, BMP1 BMP1 6

Bone morphogenetic protem, BMP2 BMP2 6

Bone morphogenetic protein, BMP3 BMP3 6

Bone morphogenetic protein, BMP4 BMP4 6

Bone morphogenetic protein, BMP5 BMP5 6

Bone morphogenetic protem, BMP6 BMP6 6

Bone morphogenetic protem, BMP7 BMP7 6

Bone morphogenetic protein, BMP8 BMP8 6

Bradykimn receptor Bl 4

Bradykmin receptor B2 4

Branched cham aminotransferase 1, cytosolic BCAT1 1

Branched chain aminotiansferase 2, BCAT2 1 mitochondrial

Breast cancer, ductal, 1 BRCD1 6

Breast cancer, ductal, 2 BRCD2 6

Butyrylcholinesterase BCHE 1

Ca(2+) transporting ATPase, fast twitch ATP2A1 2

Ca(2+) transporting ATPase, slow twitch ATP2A2 2

Cadherin E CDH1 6

Cadherin EP 6

Cadherin N CDH2 6

Cadherin P CDH3 6

Calbindin 1 CALB1 6

Calbindin D9K CALB3 6

Calcitomn receptor /Calcitomn gene-related CALCR 5 peptide receptor

Calcitonin/Calcitomn gene-related peptide CALCA 5 alpha

Calcium channel, voltage-dependent, L type, CACNA1S 5 alpha IS subimit Calcium channel, voltage-dependent, P/Q CACNA1A 5 type, alpha 1 A subimit

Calmodulin 1 CALM1 6

Calmodulin 2 CALM2 6

Calmodulm 3 CALM3 6

CaMexin CANX 6

Calpam CAPN,CAPN3 1

Cannabinoid receptor CNR1 5

Carbomc anhydrase 3 CA3

Carbomc anhydrase 4 CA4

Carbomc anhydrase, alpha CA1

Carbomc anhydrase, beta CA2

Camitine acetyltiansferase CRAT

Camitine acylcamitine translocase CACT

Camitine palmitoyltransferase I CPT1A

Carnitine palmitoyltransferase II CPT2

Camitine transporter protein CDSP,SCD 2

Cartilage oligomeric matiix protein COMP, EDM1, 5

PSACH

Cartilage-hair hypoplasia gene CHH 5

Catemn, beta CTNNB1 6

Cathepsin K CTSK 1

Caveolin 3 CAV3 1

CD1 CD1

C04 CD4

Ceroid lipofuscmosis neuronal 3 CLN3 5

Ce loplas in precursor CP 1

Chemokine MCAF MCAF 4

CMoride channel 1, skeletal muscle CLCN1 3

Cholecystokimn CCK 5

Cholecystokimn B receptor CCKBR 5

Cholesterol ester hydroxylase 1

Choline acetyltiansferase CHAT 1

Choroideremia gene CHM 3

Citrate synthase 1

Clathdn 2

Cleft palate gene CPX 6

Cockayne syndrome gene, CKNI CKNI 6

Coenzyme Q (CoQ)ΛιbiquMone 1

Collagen I alpha 1 COL1A1 3

Collagen I alpha 2 COL1A2 3

Collagen II alpha 1 COL2A1 3

Collagen III alpha 1 COL3A1 3

Collagen IV alpha 1 COL4A1 3

Collagen IV alpha 2 COL4A2 3

Collagen IV alpha 3 COL4A3 3

Collagen IV alpha 4 COL4A4 3 Co lagen IV alpha 5 COL4A5 3

Collagen TV alpha 6 COL4A6 3

Collagen K alpha 2 COL9A2, EDM2 3

Collagen K alpha 3 COL9A3 3

Collagen receptor COLR 3

Collagen V alpha 1 COL5A1 3

Collagen V alpha 2 COL5A2 3

Collagen VI alpha 1 COL6AI 3

Collagen VI alpha 2 COL6A2 3

Collagen VI alpha 3 COL6A3 3

Collagen VII alpha 1 COL7A1 3

Collagen X alpha 1 COL10A1 3

Collagen X alpha 1 COLL11A1 3

Collagen XI alpha 2 COLL11A2 3

Collagen XVI I alpha l COL17A1 3

CoUagemc-like tail subimit of asymmetric COLQ 1 acetylcholinesterase

Collapsin 6

Colony-stimulating factor 1 CSF1 6

Colony-stimulating factor 1 receptor CSF1R 6

Colony-stimulatmg factor 2 CSF2 6

Colony-stimulating factor 2 alpha receptor CSF2RA 6

Colony-stimulating factor 2 beta receptor CSF2RB 6

Colony-stimulating factor 3 CSF3 6

Colony-stimulating factor 3 receptor CSF3R 6

Complement component Cl inMbitor C1NH 4

Complement component CIQA CIQA 4

Complement component CIQB CIQB 4

Complement component CIQG CIQG 4

Complement component Clr CIR 4

Complement component Cls C1S 4

Complement component C2 C2 4

Complement component C3 C3 4

Complement component C4A C4A 4

Complement component C4B C4B 4

Complement component C5 C5 4

Complement component C6 C6 4

Complement component C7 C7 4

Complement component C8 C8B 4

Complement component C9 C9 4

Complement component receptor 1 CR1 4

Complement component receptor 2 CR2 4

Complement component receptor 3 CR3 4

Complex 1

Complex II 1

Complex III 1

Complex III 1 Complex V MTATP6 1

Cone-rod homeobox-contaimng gene CRX 6

Coproporphyrinogen oxidase CPO 1

Core-bindmg factor, alpha 1 CBFAL 6

Core-bmding factor, alpha 2 CBFA2 6

Core-bindmg factor, beta CBFB 6

Corticosteroid binding globulm CBG 5

Corticosteroid bindmg protem 2

CorticotropMn-releasmg hormone CRH 2

CorticotropMn-releasing hormone receptor CRHR1 2

Cortisol receptor 4

C-reactive protem CRP 4

Creatine Idnase - B and m CKBE 1

Creb binding protem CREBBP 6

Crystallin, alpha A CRYAA 3

Crystallin, alpha B CRYAB 3

Crystallin, beta B2 CRYBB2 3

Crystallin, gamma A CRYGA 3 c-src tyrosine Idnase CSK 6

Cu2+ tiansporting ATPase alpha polypeptide ATP7A

Cu2+ tiansporting ATPase beta polypeptide ATP7B

Cyclic AMP response element binding protein CREB 6

Cyclic AMP-dependent protein Idnase PKA

Cyclic nucleotide phosphodiesterase IB PDE1B

Cyclic nucleotide phosphodiesterase IBl PDE1B1

Cyclic nucleotide phosphodiesterase 2A3 PDE2A3

Cyclic nucleotide phosphodiesterase 3 A PDE3A

Cyclic nucleotide phosphodiesterase 3B PDE3B

Cyclic nucleotide phosphodiesterase 4A PDE4A

Cyclic nucleotide phosphodiesterase 4C PDE4C

Cyclic nucleotide phosphodiesterase 5 A PDE5A

Cyclic nucleotide phosphodiesterase 6A PDE6A

Cyclic nucleotide phosphodiesterase 6B PDE6B

Cyclic nucleotide phosphodiesterase 7 PDE7

Cyclic nucleotide phosphodiesterase 8 PDE8

Cyclic nucleotide phosphodiesterase 9A PDE9A

Cyclin-dependent kinase 2 CDK2 6

Cyclin-dependent Idnase inMbitor IC (P57, CDKN1C 6

KIP2)

Cyclin-dependent kinase inMbitor 2A (pl6) CDKN2A 6

Cyclooxygenase 1 COX1

Cyclooxygenase 2 COX2

CYP11A1 CYP11A1

CYP11B1 CYP11B1

CYP11B2 CYP11B2

CYP17 CYP17

CYP19 CYP19 CYPIAI CYPIAI

CYP1A2 CYP1A2

CYP1B1 CYP1B1

CYP21 CYP21

CYP24 CYP24

CYP27 CYP27

CYP27B1 PDDR

CYP2A1 CYP2A1

CYP2A13 CYP2A13

CYP2A3 CYP2A3

CYP2A6V2 CYP2A6V2

CYP2A7 CYP2A7

CYP2B6 CYP2B6

CYP2C18 CYP2C18

CYP2C19 CYP2C19

CYP2C8 CYP2C8

CYP2C9 CYP2C9

CYP2D6 CYP2D6

CYP2E1 CYP2E1

CYP2F1 CYP2F1

CYP2J2 CYP2J2

CYP3A3 CYP3A3

CYP3A4 CYP3A4

CYP3A5 CYP3A5

CYP3A7 CYP3A7

CYP4A11 CYP4A11

CYP4B1 CYP4B1

CYP4F2 CYP4F2

CYP4F3 CYP4F3

CYP51 CYP51

CYP5A1 CYP5A1

CYP7A CYP7A

CYP8 CYP8

CystatMonase CTH

CystatMone beta synthase CBS

Cystic fibrosis tiansmembrane conductance CFTR 5 regulator, CFTR

Cystinosin CTNS 2

Cytidine deaminase CDA

Cytidine-5-prime-tiiphosphate synthetase CTPS

CytocMome a

CytocMome b-5 CYB5

CytocMome c

CytocMome c oxidase, MTCO

CytokMe-suppressive antiinflammatory drug- CSBPl 4 binding protem 1 CytokMe-suppressive antiinflammatory drug- CSBP2 binding protem 2

DAXl nuclear receptor DAXl 4

Deafhess dystoma peptide DDP 5

Delta-4,5-alpha-reductase 1

Delta aminolevulinate dehydratase ALAD 1

Delta(4)-3 -oxosteroid 5-beta-reductase 1

Delta-7-dehydrocholesterol reductase DHCR7 1

Dentin sialophosphoprotein DSPP 6

Desmin DES 3

DHEA sulfotransferase STD 1

DiastropMc dysplasia sulfate transporter DTD 2

Dihydrolipoamide dehydrogenase DLD 5

Dihydroxyacetonephosphate acyltransferase DHAPAT 1

DNA damage binding proteM, DDBI DDBI 3

DNA damage binding proteM, DDB2 DDB2 3

DNA methyltransferase DNMT 1

DNA-damage-inducible transcript 3 DDIT3 3

Dopamme receptors Dl DRD1 5

Dopamine receptors D2 DRD2 5

Dopamine receptors D3 DRD3 5

Dopamine receptors D4 DRD4 5

Dopamine receptors D5 DRD5 5

Dynamin DNM1 6

DynorpMn receptor 5

Dyskehn DKC1 3

Dystoma 1 DYT1 3

Dystoma 3 DYT3 3

Dystoma 6 DYT6 3

Dystoma 7 DYT7 3

DystropMa myotomca DM, DMPK 1

DystropMa myotomca, atypical DM2 1

DystropMn DMD 3

DystiopMn-associated glycoprotein 35kD, SGCD 3

SCGD

DystiopMn-associated glycoprotem 35kD, SGCG 3

SGSG

DystiopMn-associated glycoprotein 43kD SGCB 3

DystiopMn-associated glycoprotem 50kD SGCA 3

Ectodermal Dysplasia 1 gene EDI 3

Elastase 1 ELAS1 1

Elastase 2 ELAS2 1

Elastin ELN 3

Election-tiansfering-flavoprote alpha ETFA 2

Electron-tiansfe ng-flavoprotem beta ETFB 2

Electron-transferdng flavoprotem ETFDH 1 dehydrogenase Emerin EMD 2

Endocardial fibroelastosis 2 gene EFE2 3

Endometrial bleeding-associated factor EBAF 6

Endothelin 1 EDN1 5

Endothelin 2 EDN2 5

Endothelm 3 ED 3 5

Endothelin converting enzyme ECE1 5

Endothelm receptor type A EDNRA 5

Endothelm receptor type 8 EDNRB 5

Engrailed-1 EN1 6

Engraüed-2 EN2 6

Enolase ENO1

Enoyl CoA hydratase

Enoyl CoA isomerase

Enoyl CoA reductase

Enterokinase PRSS7, ENTK

EpMin receptor tyrosine Idnase A EPHA 6

Ephrin receptor tyrosine Mnase B EPHB 6

Epidermal growth factor EGF 6

Epidermal growth factor receptor EGFR 6

ErytMocyte membrane protein band 4.1 EPB41 3

ErytMopoietin EPO 4

ErytMopoietin receptor EPOR 4

Estiogen receptor ESR 6

Exostosm 1 EXT1 3

Exostosin 2 EXT2 3

Exostosin 3 EXT3 3

Eye colour gene 3 (brown) EYCL3 3

Eyes absent 1 EYA1 6

Faciogemtal dysplasia FGDI, FGDY 2

Factor I (No. one) FI

Factor B, properdin

Factor D

Factor H HF1

Factor X F10

Fancom anemia, complementation group A FANCA 2

Fancom anemia, complementation group C FANCC 2

F ncom anemia, complementation group D FANCD 2

Fc fragment of IgG, Mgh affimty IA, receptor FCGR1A 6 for

Fc fragment of IgG, low affimty Ila, receptor FCGR2A 6 for (CD32)

Ferritin, H subumt 2

Ferritin, L subumt FTL 2

Fibrilhn 1 FBN1 6

Fibrillin 2 FBN2 6

Fibrinogen alpha FGA 3 Fibrinogen beta FGB 3

Fibrinogen gamma FGG 3

Fibroblast growth factor FGF1 6

Fibroblast growth factor receptor 1 FGFR1 6

Fibroblast growth factor receptor 2 FGFR2 6

Fibroblast. growth factor receptor 3 FGFR3 6

Fibronectin precursor FN1 6

Flightless-II, DrosapMla homolog of FLII 6

Folic acid receptor FOLR 6

Follicle stimulating hormone receptor FSHR,ODGl 6

Follicle stimulating hormone, FSH FSHB 6

Forkhead tianscription factor 10 FKHL10 6

Forkhead transcription factor 14 FKHL14 6

Forkhead transcription factor 7 FKHL7 6

Fragile site, folic acid type, rare, fra(X) A FRAXA 5

Frataxin FRDA 6

Fringe secreted protein, lunatic LFNG 6

Fringe secreted protein, manic MFNG 6

Fringe secreted protein, radical RFNG 6

Fructose- 1 ,6-diphosphatase FBP1 1

Fucosidase alpha-L-1 FUCA1 1

Fucosidase alpha-L-2 1

Fukuyama type congemtal muscular FCMD 6 dystiophy

Fumarase FH 1

GABA receptor, alpha 1 GABRA1 5

GABA receptor, alpha 2 GABRA2 5

GABA receptor, alpha 3 GABRA3 5

GABA receptor, alpha 4 GABRA4 5

GABA receptor, alpha 5 GABRA5 5

GABA receptor, alpha 6 GABRA6 5

GABA receptor, beta 1 GABRB1 5

GABA receptor, beta 2 GABRB2 5

GABA receptor, beta 3 GABRB3 5

GABA receptor, gamma I GABRG1 5

GABA receptor, gamma 2 GABRG2 5

GABA receptor, gamma 3 GABRG3 5

Galactocerebrosidase GALC 1

Galactoldnase GALK1 1

Galactose I -phosphate uridyl-transferase GALT 1

Gamma-glutamyl carboxylase GGCX 2

Gap junction proteM alpha 3 GJA3 2

Gap junction protein alpha 8 GJA8 2

Gap junction protein beta 3 GJB3 2

Gastrulation brain homeobox 2 GBX2 6

Glucosidase, acid alpha GAA 1

Glucosidase, acid beta GBA 1 Glutamate receptor 1 GLUR1 5

Glutamate receptor 2 GLUR2 5

Glutamate receptor 3 GLUR3 5

Glutamate receptor 4 GLUR4 5

Glutamate receptor 5 GLUR5 5

Glutamate receptor 6 GLUR6 5

Glutamate receptor 7 GLUR7 5

Glutamate receptor, ionotropic, NMDA 1 NMDAR1 5

Glutamate receptor, ionotropic, NMDA 2A NMDAR2A 5

Glutamate receptor, ionotropic, NMDA 2B NMDAR2B 5

Glutamate receptor, ionotropic, NMDA 2C NMDAR2C 5

Glutamate receptor, ionotropic, NMDA 2D NMDAR2D 5

GlutatMone GSH 2

GlutatMone peroxidase, GPX1 GPX1 1

GlutatMone S-transferase, GSTZI GSTZI 1

Glyceraldehyde-3 -phosphate GAPDH 1 dehydrogenase, GAPDH

Glycerol kinase GK 1

Glycinamide ribonucleotide (GAR) GART 1 tiansformylase

Glycine receptor, alpha GLRA2 5

Glycine receptor, beta 5

Glycine transporter GLYT 5

Glycogen phosphorylase PYGL 1

Glycosyltiansferases, ABO blood group ABO 1

GM2 ganglioside activator protem, GM2A GM2A 1

Green cone pigment GCP 3

Growth arrest-specific homeobox GAX 6

Growth factor receptor-bound protem 2 GRB2 6

Growth hormone 1 GH1 6

Growth hormone 2 (placental) GH2 6

Growth hormone receptor GHR 6

Growth hormone releasing hormone (GHRH) GHRH 6

Growth hormone releasing hormone receptor GHRHR 6

Growth/differentiation factor 5 GDF5 6

GTP cylcohydrolase 1 GCH1 6

GTPase-activating protein, GAP RASAL 6

Guamdinoacetate N-methyltiansferase GAMT 1

Guamne nucleotide-bindmg protein, alpha GNAO1 5 activating activity polypeptide, GNAO y

Guamne nucleotide-bmdmg protem, alpha GNAI1 5 inMbiting activity polypeptide 1, GNA[L Guamne nucleotide-bmdmg protem, alpha GNAI2 5 inMbiting activity polypeptide 2, GNA 2 Guamne nucleotide-bmdmg protem, alpha GNAI3 5 inMbiting activity polypeptide 3, GNA[3 Guamne nucleotide-bmdmg protem, alpha GNAS1 5 stimulating activity polypeptide, GNAS I

Gua ne nucleotide-bmding protem, alpha GNAS2 5 stimulating activity polypeptide, GNAS2

Guamne nucleotide-bindmg protein, alpha GNAS3 5 stimulating activity polypeptide, GNAS3

Guamne nucleotide-bmdmg protem, alpha GNAS4 5 stimulating activity polypeptide, GNAS4

Guamne nucleotide-bindmg protein, alpha GNATI 5 transducing activity polypeptide, GNATI

Guamne nucleotide-bindmg protein, alpha GNAT2 5 transducing activity polypeptide, GNAT2

Guamne nucleotide-binding protem, beta GNB3 5 polypeptide 3

Guamne nucleotide-bindMg protein, gamma GNG5 5 polypeptide 5

Guamne nucleotide-binding protein, q GNAQ 5 polypeptide

Guanylate cyclase 2D, membrane (retina- GUCY2D 1 specific)

Guanylate cyclase activator 1A (retina) GUCALA 1

H(+), K(+) - ATPase ATP4B 5

Haeme regulated inMbitor Idnase 1

Haemoglobin alpha I HBAL 2

Haemoglobm alpha 2 HBA2 2

Haemoglobin beta HBB 2

Haemoglobin delta HBD 2

Haemoglobin gamma A HBG1 2

Haemoglobm gamma B HBG2 2

Haemoglobin gamma G HBGG 2

Hairless HR 6

Heat shock protem, HSP60 4

Heat shock protein, HSP70 4

Heat shock protem, HSP90 4

Heat shock protein, HSPA1 4

Heat shock protein, HSPA2 4

Heparan sulfamidase 1

Heparin binding epidermal growth factor HBEGF 6

Heparin Cofactor II HCF2 4

Hepatocyte growth factor HGF 6

Hermansky-pudiak syndrome gene HPS 2

HexokMase 2 HK2 1

Hexosamimdase A HEXA,TSD 1

Hexosammidase B HEXB 1

Histamme receptors, Hl 5

Histamme receptors, H2 5

Histamme receptors, H3 5 HLN-B associated transcript 1 BAT1 4 Holocarboxylase synthetase HLCS 1 Holoprosencephaly 1 HPEI 6 Holoprosencephaly 2 HPE2 6 Holoprosencephaly 3 HPE3 6 Holoprosencephaly 4 HPE4 6 Homeobox (HOX) gene AI HOXA1 6 Homeobox (HOX) gene A10 HOXA10 6 Homeobox (HOX) gene All HOXA11 6 Homeobox (HOX) gene AI 2 HOXA12 6 Homeobox (HOX) gene AI 3 HOXA13 6 Homeobox (HOX) gene A2 HOXA2 6 Homeobox (HOX) gene A3 HOXA3 6 Homeobox (HOX) gene A4 HOXA4 6 Homeobox (HOX) gene A5 HOXA5 6 Homeobox (HOX) gene A6 HOXA6 6 Homeobox (HOX) gene A7 HOXA7 6 Homeobox (HOX) gene A8 HOXA8 6 Homeobox (HOX) gene A9 HOXA9 6 Homeobox (HOX) gene Bl HOXBL 6 Homeobox (HOX) gene B2 HOXB2 6 Homeobox (HOX) gene B3 HOXB3 6 Homeobox (HOX) gene B4 HOXB4 6 Homeobox (HOX) gene B5 HOXB5 6 Homeobox (HOX) gene B6 HOXB6 6 Homeobox (HOX) gene B7 HOXB7 6 Homeobox (HOX) gene B8 HOXB8 6 Homeobox (HOX) gene B9 HOXB9 6 Homeobox (HOX) gene C13 HOXC13 6 Homeobox (HOX) gene C4 HOXC4 6 Homeobox (HOX) gene C8 HOXC8 6 Homeobox (HOX) gene C9 HOXC9 6 Homeobox (HOX) gene Dl HOXD1 6 Homeobox (HOX) gene D10 HOXD10 6 Homeobox (HOX) gene D12 HOXD12 6 Homeobox (HOX) gene D13 HOXD13 6 Homeobox (HOX) gene D3 HOXD3 6 Homeobox (HOX) gene D4 HOXD4 6 Homeobox (HOX) gene D8 HOXD8 6 Homeobox (HOX) gene D9 HOXD9 6 Homeobox 11 HOX11 6 Homeobox HB24 HLX1 6 Homeobox HB9 HLXB9 6 Homeobox, PROX1 PROX1 6 Homogentisate 1,2 dioxygenase HGD 1 Human placental lactogen CSH1 6 Hypoxia inducible factor 1 HIF1A 1 Hypoxia inducible factor 2 1

IC7 A and B 4

Immunoglobulm E (IgE) reponsiveness gene IGER 4

Mdian hedgehog, ihh IHH 6

InMbm, alpha INHA 6

InMbin, beta A INHBA 6

MMbin, beta B INHBB 6

InMb , beta C INHBC 6

Inositol 1,4,5-triphosphate receptor 3 ITPR3 6

Msulm promotor factor 1 IPF1 6

Msulin-like growth factor 1 IGF1 6

Msulin-like growth factor 1 receptor IGF 6

Insulin-like growth factor 2 IGF2 6

Msulm-like growth factor 2 receptor IGF2R 6

Mtegrin beta 1 ITGBL 6

Integrin beta 3 ITGB3 6

Integrin beta 4 ITGB4 6

Integrin, alpha 5 ITGA5 6

Integrin, alpha 7 ITGA7 6

Inter-alpha-trypsin inMbitor, IATI 1

Mterferon alpha IFNA1 4

Mterferon beta IFNB 4

Interferon gamma IFNG 4

Interferon gamma receptor 1 IFNGR1 4

Mterferon gamma receptor 2 IFNGR2 4

Interferon regulatory factor 1 IRF1 4

Interferon regulatory factor 4 IRF4 4

Interleukin(IL) 1 receptor IL1R 4

Interleukin(IL) 1, alpha IL1A 4

Mterleukin(IL) 1, beta IL1B 4

Mterleukin(IL) 10 IL10 4 interleukin(IL) 10 receptor IL10R 4

Mterleukin(IL) 11 IL11 4

Mterleukin(IL) 11 receptor IL11R 4

Interleukin(IL) 12 IL12 4

Interleukin(IL) 12 receptor, beta 1 IL12RB1 4

Mterleukin(IL) 13 IL13 4

Mterleuldn(IL) 13 receptor IL13R 4 lnterleukin(IL) 2 IL2 4

Interleuldn(IL) 2 receptor, alpha IL2RA 4

Mterleukin(IL) 2 receptor, gamma IL2RG 4

Mterleukin(IL) 3 IL3 4

InterleukM(IL) 3 receptor IL3R 4

Mterleukin(IL) 4 IL4 4

Interleukin(IL) 4 receptor IL4R 4

Mterleukin(IL) 5 IL5 4

Mterleukin(IL) 5 receptor IL5R 4 Mterleu_dn(IL) 6 IL6 4

Mterleuldn(IL) 6 receptor IL6R 4

InterleukM(IL) 7 IL7 4

Mterleukin(IL) 7 receptor IL7R 4

MterleukM(IL) 8 IL8 4

MterleukM(IL) 8 receptor IL8R 4

Mterleukm(IL) 9 IL9 4

Interleukin(IL) 9 receptor IL9R 4

Mterleuldn(IL) receptor antagomst I 1L1RN, IL1RA 4 lsocitrate dehydrogenase 1

Kaliman sypdrome gene 1 KALI 6

Keratin 1 KRT1 3

Keratin 10 KRT10 3

Keratin 11 KRT11 3

Keratin 12 KRT12 3

Keratin 13 KRT13 3

Keratin 14 KRT14 3

Keratin 15 KRTI 5 3

Keratin 16 KRT16 3

Keratin 17 KRT17.PCHC1 3

Keratin 18 KRT18 3

Keratin 2 KRT2 3

Keratin 3 KRT3 3

Keratin 4 KRT4 3

Keratin 5 KRT5 3

Keratin 6 KRT6 3

Keratin 7 KRT7 3

Keratin 8 KRT8 3

Keratin 9 KRT9 3

Keratin, hair acidic 1 KRTHA1 3

Keratin, hair basic 2 KRTHB1 3

Keratin, hair basic 6 KRTHB6 3

Kimnogen, High molecular weight KNG 4

Lactate dehydrogenase, A LDHA 1

Lactate dehydrogenase, B LDHB 1

Lamin A/C LMNA 6

LamMin 5, alpha 3 LAMA3 6

Lamimn 5, beta 3 LAMB3 6

Lamimn 5, gamma 2 LAMC2 6

Lamimn M LAMM 6

Lamimn receptor 1 LAMRI 6

Latent tiansforming growth factor-beta LTBP2 6 bindmg protein 2

Leukocyte-specific transcript 1 LST- 1 4

Leukotriene A4 hydrolase 4

Leukotriene A4 synthase LTA4S 1

Leukotriene B4 receptor 4 Leukotriene B4 synthase LTB4S 1

Leukotriene C4 receptor 4

Leukotriene C4 synthase LTC4S 1

LIM homeobox transcription factor 1, beta LMX1B 6

Limb girdle muscular dystiophy 1 A LGMD1A 6

Limb girdle muscular dystrophy IB LGMD1B 6

Limb girdle muscular dystrophy 2G LGMD2G 6

Limb girdle muscular dystrophy 2H LGMD2H 6

Limbic associated membrane protein LAMP 6

Lipoprotein receptor, Low Density LDLR 2

Lipoxygenase 12 (platelets) LOG12 4

Loricrin LOR 3

Low density lipoprotein receptor-related LRP 2 protein precursor

Luteimzing hormone-releasmg hormone 5

LuteimzMg hormone-releasing hormone 5 receptor

Lymphotoxin 4

Lysosome-associated membrane protem 1 LAMP1 6

Lysosome-associated membrane protein 2 LAMP2 6

Lysozyme LYZ 4

Lysyl hydroxylase PLOD 1

Lysyl oxidase LOX 1

Macrophage activating factor MAF 4

Macrophage inflammatory protein- 1 MIP1 4 ^•

Macrophage inflammatory protein- 1 receptor 4

Macrophage inflammatory protein-2 MIP2 4

Macrophage inflammatory protein-2 receptor 4

MADS box transcription-enhancer factor 2A MEF2A 6

MADS box transcription-enhancer factor 2B MEF2B 6

MADS box transcription-enhancer factor 2C MEF2C 6

MADS box transcription-enhancer factor 2D MEF2D 6

Mannose bindMg protem MBP 4

Mannosidase, alpha B lysosomal MANB 1

Mannosidase, beta A lysosomal MANBA 1

Marenostrin MEFV 2

Matrix Gla protein MGP 6

Matrix metalloproteinase 1 MMP1 1

Matrix metalloproteinase 10 MMP10 1

Matiix metalloproteinase 11 MMP11 1

Matrix metalloproteinase 12 MMP12 1

Matrix metalloproteinase 13 MMP13 1

Matrix metalloproteinase 14 MMP14 1

Matrix metalloproteMase 15 MMPI 5 1

Matrix metalloprotemase 16 MMP16 1

Matrix metalloproteinase 17 MP17 1

Matrix metalloprotemase 18 MMP18 1 Matrix metalloprotemase 19 MMP19

Matrix metalloproteinase 2 MMP2

Matrix metalloprotemase 3 MMP3, STMYJ

Matrix metalloproteinase 4 MMP4

Matrix metalloproteinase 5 MMP5

Matrix metalloprotemase 6 MMP6

Matrix metalloproteinase 7 MMP7

Matrix metalloprotemase 8 MMP8

Matrix metalloproteinase 9 MMP9

MEK kinase, MEKK

Melanocortin 1 receptor MC1R 2

Melanocortin 2 receptor MC2R 2

Melanocortin 4 receptor MC4R 2

Mesoderm-specific transcript MEST 6

Methylguamne-DNA methyltiansferase MGMT 1

Methylmalonyl-CoA mutase MUT 1

Mevalonate kinase MVK 1

MHC Class 1: A 4

MHC Class 1: B 4

MHC Class 1: C 4

MHC Class 1: LMP-2, LMP-7 4

MHC Class L Tapl ABCR, TAP1 4

MHC Class II: DP HLA-DPB1 4

MHC Class II: DQ 4

MHC Class II: DR 4

MHC Class II: Tap2 TAP2,PSF2 4

MHC Class ILComplementation group A MHC2TA 4

MHC Class ILComplementation group B RFXANK 4

MHC Class ILComplementation group C RFX5 4

MHC Class ILComplementation group D RFXAP 4

Microphthalmia-associated transcription MITF 6 factor

Midline 1 MIDI 6

Mitochondrial trifunctional protein, alpha HADHA 1 subunit

Mitochondrial trifunctional protem, beta HADHB 1 subumt

MoesM, MSN 3

Molybdenum cofactor synthesis 1 MOCS1 1

Molybdenum cofactor synthesis 2 MOCS2 1

Monoam e oxidase A MAOA 1

Monoamine oxidase B MAOB 1

Monocyte chemoattractant protein 1 MCP1 4

Mucolipidoses GNPTA 1

Mulibrey namsm MUL 2

Muscarimc receptor, Ml CHRM1 5

Muscarimc receptor, M2 CHRM2 5 Muscarimc receptor, M3 CHRM3 5

Muscarimc receptor, M4 CHRM4 5

Muscarimc receptor, M5 CHRM5 5

Muscle phosphoylase PYGM 1

Mutated in colorectal cancers, MCC MCC 6

MutS homolog 3 MSH3 6

Myeloperoxidase MPO 4

Myocilin MYOC 2

Myogemc factor 3 MYF3 6

Myogemc factor 4 MYF4 6

Myogemc factor 5 MYF5 6

Myoglobin 2

Myomesin 1 MYOM1 3

Myomesin 2 MYOM2 3

Myopia 1 MYP1 2

Myopia 2 MYP2 2

Myosm 15 MYO15 3

Myosin 5A MYO5A 3

Myosin 6 MYO6 3

Myosm 7A MYO7A 3

Myosin, cardiac MYH7 3

Myosin, light chain 2 MYL2 3

Myosin, light chain 3 MYL3 3

MyoMbuladn MTM1 3

Na+, K+ ATPase, alpha ATP1A1 6

Na+, K+ ATPase, beta 1 ATP1B1 6

Na+, K+ ATPase, beta 2 ATP1B2 6

Na+, K+ ATPase, beta 3 ATP1B3 6

Na+/H+ exchanger 1 NHEI 2

Na+/H+ exchanger 2 NHE2 2

Na+/H+ exchanger 3 NHE3 2

Na+/H+ exchanger 4 NHE4 2

Na+/H+ exchanger 5 NHE5 2

N-acetylgalactosamine-6-sulfate sulfatase GALNS

N-acetylglucosamine-6-suffatase GNS

N-acetylglucosamimdase, alpha NAGLU

NADH dehydrogenase

NADH-cytocMome b5 reductase DIA1 reductase

NB6 4

Nebulin EB 3

NepMosis 1 NPHS1 2

Neural retina-specific gene NRL 6

Nemammidase sialidase NEU 2

Neuregulm HGL 6

Neurexin 5

NeuroendocrMe convertase 1 NEC1, PCSK1 1 Neurok M A NKNA 5

Neurokimn B NKNB 5

Neuropeptide Y NPY 5

Neuropeptide Y receptor Yl NPY1R 5

Neuropeptide Y receptor Y2 NPY2R 5

Neurotensin NTS 5

Neurotensin receptor NTSR1 5

Nibrin NBS1 6

Noggin NOG 6

Notch ligand - jagged 1 JAG 1, AGS 6

Nuclear factor 1-kappa-B-like gene IKBL 4

Nuclear factor kappa beta NFKB 4

Nuclear factor of activated T cells (NFAT) NFATC 6 complex, cytosolic

Nuclear factor of activated T cells (NFAT) NFATP 6 complex, preexisting component

Ocular albimsm 1 OA1 3

Oculocutaneous albimsm 11 OCA2 3

Oncogene ERG (early reponse gene) 6

Oncogene fos FOS 6

Oncogene GLI1 GLI 6

Oncogene GLI2 GLI2 6

Oncogene GLI3 GLI3 6

Oncogene sis PDGFB 6

Oncogene src 6

Opioid receptor, delta OPRD1 5

Opioid receptor, kappa OPRK1 5

Opioid receptor, mu OPRM1 5

OmitMne delta-aminotiansferase OAT 1

Osteocalcm 3

Osteonectin ON 6

Osteopontin OPN 6

Osteoprotegerin OPG 6

Oxytocin OXT 5

Oxytocm receptor OXTR 5 p21-activated kinase 3 PAK3 6

Paired box homeotic gene 1 PAX1 6

Paired box homeotic gene 2 PAX2 6

Paired box homeotic gene 3 PAX3 6

Paired box homeotic gene 6 PAX6 6

Paired box homeotic gene 7 PAX7 6

Paired box homeotic gene 8 PAX8 6

Paired-like homeodomain transcription factor PITX2 6

2

Paired-like homeodomain transcription factor PITX3 6

3

Parathyroid hormone PTH 6 Parathyroid hormone receptor PTHR1 6

Parathyroid hormone related-peptide PTHRP 6

Parathyroid hormone-like hormone PTHLH 6

Patched (DrosopMla) homolog, PTCH PTCH 6

Peanut-like 1 PNUTL1 4

Peripherin, PRPH 3

Peroxisomal membrane proteM 1 PXMP1 3

Peroxisoma membrane proteM 3 PXMP3 2

Peroxisome biogenesis factor 1 PEX1 2

Peroxisome biogenesis factor 19 PEX19 2

Peroxisome biogenesis factor 6 PEX6 2

Peroxisome biogenesis factor 7 PEX7 2

Peroxisome receptor 1 PXR1 2

Phenylethanolamine N-methyltiansferase, PNMT 1

PNMT

Phosphate regulating gene with homologies PHEX 6 to endopeptidases on the X cMomosome

Phosphodiesterase 1 / nucleotide PDNP1 6 pyrophosphatase 1

Phosphodiesterase 1 / nucleotide PDNP2 6 pyrophosphatase 2

Phosphodiesterase 1 / nucleotide PDNP3 6 pyrophosphatase 3

Phosphofructokinase, muscle PFKM 1

Phosphoglucose isomerase GPI 1

Phosphoglycerate kinase 1 PGK1 1

Phosphoglycerate mutase 2 PGAM2 1

Phospholipase A2, group 10 PLA2G10 4

Phospholipase A2, group IB PLA2G1B

Phospholipase A2, group 2A PLA2G2A

Phospholipase A2, group 2B PLA2G2B 4

Phospholipase A2, group 4A PG4A 4

Phospholipase A2, group 4C P 2G4C 4

Phospholipase A2, group 5 PLA2G5 4

Phospholipase A2, group 6 PLA2G6 4

Phosphomannomutase 2 PMM2 6

Phosphoribosyl pyrophosphate synthetase PRPS1 1

Phosphorylase kinase, alpha 1 (muscle) PHKA1 1

Phosphorylase kinase, beta PHKB 1

Phosphorylase kinase, delta 1

Phosphorylase Idnase, gamma 2 PHKG2 1

Phytanoyi-CoA hydroxylase PHYH 6

Pineolytic beta-receptors 1

PlakopMlin 1 PKP1 2

Plasminogen PLG 1

Platelet derived growth factor PDGF 6

Platelet derived growth factor receptor PDGFR 6 Plectin 1 PLEC1 2

Potassium mwardly-rectifying channel Jl KCNJ1 5

Potassium voltage-gated channel El KCNE1 5

Potassium voltage-gated channel Ql KCNQl 5

Potassium voltage-gated Channel Q2 KCNQ2 5

Potassium voltage-gated channel Q3 KCN03 5

POU domain, class 3, tianscription factor 4 POU3F4 6

POU domain, class 4, transcription factor 3 POU4F3 6

Prion protein PRNP 5

Procollagen N-protease 1

Procollagen peptidase 1

ProdynorpMn 5

Profibrinolysin 6

Prolactin receptor PRLR 6

Prolactin releasing hormone PRH 6

Proliferin PLF 6

Proopiomelanocortin POMC 5

Properdin P factor, complement PFC, PFD 4

Prophet of Pitl PROP1 6

Propionyl-CoA carboxylase, alpha PCCA 1

Prosaposin PSAP 5

Prostacyclin synthase 4

Prostaglandin 15-OH dehydrogenase HGPD;PGDH 4

Prostaglandin D - DP receptor 4

Prostaglandm El receptor 4

Prostaglandin E2 receptor 4

Prostaglandin E3 receptor 4

Prostaglandin F - FP receptor 4

Prostaglandin F2 alpha receptor 4

Prostaglandin 12 receptor 2

Prostaglandin IP receptor 4

Prostaglandin isomerase 6

Protease nexin 2 PN2 1

Protective protein for beta-galactosidase PPGB 1

Protein C PROC 4

Proteinase 3 4

Purine nucieoside phosphorylase NP 1

Purinergic receptor P1A1 5

Purinergic receptor Pl A2 5

Purinergic receptor P1A3 5

Purinergic receptor P2X, 1 P2RX1 5

Purinergic receptor P2X, 2 P2RX2 5

Purinergic receptor P2X, 3 P2RX3 5

Pudnergic receptor P2X, 4 P2RX4 5

Purinergic receptor P2X, 5 P2RX5 5

Purinergic receptor P2X, 6 P2RX6 5

Purinergic receptor P2X, 7 P2RX7 5 Purinergic receptor P2Y, 1 P2RY1 5

Purinergic receptor P2Y, 11 P2RY11 5

Pu nergic receptor P2Y, 2 P2RY2 5

Pyrrolme-5-carboxylate synthetase PYCS 1

Pyruvate Idnase PKLR 1

RabpMlin 5

Radixin RDX 3

RAS-associated protem, RAB3 A RAB3A 5

Rathke pouch homeobox, RPX RPX 6

Receptor tyrosme kinase (RTK), NSK2 NSK2 6

Retina pigment epithelium specific protem RPE65 3

(65kD)

Retimtis pigmentosa gene 1 RP1 3

Retimtis pigmentosa gene 2 RP2 3

Retimtis pigmentosa gene 3 RP3 3

Retimtis pigmentosa gene 6 RP6 3

Retimtis pigmentosa gene 7 RP7, RDS 3

Retinoblastoma 1 RB1 6

Retinoic acid receptor, alpha RARA 6

Retinoic acid receptor, beta RARB 6

Retinoic acid receptor, gamma RARG 6

Retinoid X receptor, alpha RXRA 6

Retinoid X receptor, beta RXRB 6

Retinoid X receptor, gamma RXRG 6

Retinol binding protein 4 RBP4 2

Rhodopsin RHO 3

RIGUI RIGUI 6

Rod outer segment membrane protem 1 ROM1 3

Ryanodme receptor 1, skeletal RYR1 6

Serotomn N-acetyltransferase SNAT 1

Serotomn receptor, 5HT1 A HTR1A 5

Serotonin receptor, 5HT1B HTRI1B 5

Serotomn receptor, 5HT1C HTR1C 5

Serotomn receptor, 5HT1D HTR1D 5

Serotomn receptor, 5HT1E HTR1E 5

Serotomn receptor, 5HT1F HTR1F 5

Serotomn receptor, 5HT2A HTR2A 5

Serotomn receptor, 5HT2B HTR2B 5

Serotomn receptor, 5HT2C HTR2C 5

Serotomn receptor, 5HT3 HTR3 5

Serotomn receptor, 5HT4 HTR4 5

Serotomn receptor, 5HT5 HTR5 5

Serotomn receptor, 5HT6 HTR6 5

Serotomn receptor, 5HT7 HTR7 5

Sex hormone bmdmg globulm, SHBG 2

Sialoprotein, bone BSP 6 Signal transducer and activator of STAT1 transcription 1

SignalMg lymphocyte activation molecule SLAM 4

Sine oculis homeobox, drosopMla, homolog 1 SKI 6

Sine oculis homeobox, drosopMla, homolog 2 SK2 6

SMe oculis homeobox, drosopMla, homolog 5 SK5 3

Sjoegren (Sjogren) syndrome antigen AI SSAl 4

Slug protein 6

Small nuclear ribonucleoprotein polypeptide SNRPN 3

N

Smoothelin SMTN 6

Smoothened (DrosopMla) homolog SMOH 6

Sodium channel, non-vo tage gated 1, alpha SCNNIA 5

Sodium channel, non-voltage gated 1, beta SCNNIB 5

Sodium channel, non-voltage gated 1, SCNNIG 5 gamma

Sodium channel, voltage gated, type IV, SCN4A 5 alpha polypeptide

Sodium channel, voltage gated, type V, alpha SCN5A 5 polypeptide

Sodium channel, voltage-gated, type 1, beta SCN1B 5 polypeptide

Solute carrier family 1 (glutamate SLC1A1 2 tiansporter), member 1

Solute carrier family 1 (glutamate SLC1A2 2 transporter), member 2

Solute carrier family 12, member 1 SLC12A1 2

Solute carrier family 12, member 2 SLC12A2 2

Solute carrier family 12, member 3 SLC12A3 2

Solute carrier family 16 (monocarboxylate SLC16A1 2 transporter), member 1

Solute carrier family 16 (monocarboxylate SLC16A7 2 tiansporter), member 7

Solute carrier family 17, member 1 SLC17A1 2

Solute carrier family 17, member 2 SLC17A2 2

Solute carder family 19 (folate transporter), SLC19A1 2 member 1

Solute carrier family 21, member 2 SLC21A2 2

Solute carrier family 21, member 3 SLC21A3 2

Solute carrier family 25, member 12 SLC25A12 2

Solute carrier family 6 (GAMMA- SLC6A1 2

AMINOBUTYRIC ACID tiansporter), member

1

Solute carrier family 6 (neurotiansmifter SLC6A3 2 tiansporter, dopamme), member 3

Solute carrier family 6 (neurotiansmifter SLC6A2 2 tiansporter, noradrenaline), member 2 Solute carrier family 6, member IO SLC6A10 2

Solute carrier family 6, member 8 SLC6A8 2

Solute carrier family 7(amMo acid SLC7A1 2 transporter), member 1

Solute carrier family 7(amino acid SLC7A2 2 transpo er), member 2

Solute carrier family 7(amino acid SLC7A7 2 tiansporter), member 7

Solute carrier family 8 (sodium/calcium SLC8A1 2 exchanger), member 1

Somatostatin SST 5

Somatostatin receptor, SSTR1 SSTR1 5

Somatostatin receptor, SSTR2 SSTR2 6

Somatostatin receptor, SSTR3 SSTR3 5

Somatostatin receptor, SSTR4 SSTR4 5

Somatostatin receptor, SSTR5 SSTR5 5

Somc hedgehog, SHH SHH 6

Sorbitol dehydrogenase SORD 1

Sorcin SRI 2

Spectrin alpha SPTA1 3

Spectrin beta SPTB 3

Sperm adhesion molecule SPAM1 6

Sperm prolamine Pl PRM1 6

Sperm prolamine P2 PRM2 6

SpMngomyelinase SMPD1 1

Split hand/foot malformation gene DSS1 6

SRY-box 10 SOX10 6

SRY-box 11 SOX11 6

SRY-box 3 SOX3 6

SRY-box 4 SOX4 6

SRY-box 9 SOX9 6

Steroid 5 alpha reductase 1 SRD5A1

Steroid 5 alpha reductase 2 SRD5A2

Steroid sulphatase STS

Substance P 5

Succinate dehydrogenase 1 SDH1

Succinate dehydrogenase 2 SDH2

Sulfamidase SGSH 6

Superoxide dismutase 1 SOD1

Superoxide dismutase 3 SOD3

Survival of motor neuron 1, telomeric SMN1 2

Synapsm I a & I b SYN1 5

Synapsin 2a & 2b SYN2 5

Synaptic vesicle protein 2 SV2 5

SynaptobrevM 1 SYB1 5

Synaptobrevin 2 SYB2 5

Synaptogyrin 5 Synaptophysm SYP . 5

Synaptosomal-associated protem, 25KD SNAP25 5

Synaptotagπώi 1 SYT1 5

SynaptotagmM 2 SYT2 5

Synovial sarcoma gene 1 SSX1 6

Synovial sarcoma gene 2 SSX2 6

Syntaxin 1 STX1 5

Tachykimn receptor, NK1R TACR1 5

Tachykimn receptor, NK2R TACR2 5

Tachyldmn receptor, NK3R TACR3 5

Talin, TLN 3

T-BOX 1 TBX1 6

T-BOX 2 TBX2 6

T-BOX 3 TBX3 6

T-BOX 4 TBX4 6

T-BOX 5 TBX5 6

T-BOX 6 TBX6 6

TEK, tyrosme Idnase, endothelial TEK 1

Telomerase protein component 1

Tetranectin TNA 2

TMombospondin THBS1 6

TMomboxane A synthase 1 TBXAS1 4

TMomboxane A2 TXA2 4

TMomboxane A2 receptor TBXA2R 4

Thymosin 4

Thyrotropin releasing hormone TRH 5

Thyrotropin releasing hormone TRH 6

Thyrotropin releasmg hormone receptor TRHR 5

Tip-associated proteM TAP 4

Tissue non-specific alkaline phosphatase 1

TNSAP

Titin TTN 3

Tocopherol (alpha) transfer proteM TTPA 2

Torticolhs, keloids, cryptorcMdism and renal TKCR 6 dysplasia gene

Transforming growth factor, alpha TGFA 6

Transforming growth factor, beta 2 TGFB2 6

TransformMg growth factor, beta induced TGFBI 6

Transforming growth factor, beta receptor 2 TGFBR2 6

Transglutammase 1 TGM1 6

Transglutammase 2 TGM2 6

Transglutaminase 4 TGM4 6

Transthyretin TTR 2

Treacle gene TCOF1 6

Triosephosphate isomerase TPI 1 1

Tropomyos 1 alpha TPM1 3

Tropomyosm 3 (non-muscle) TPM3 3 Tropomn C 3

Tropomn I TNNI3 3

Tropomn T2, cardiac TNNT2 3

Tryypsinogen 1 TRYI 1

Trypsinogen 2 TRY2 1

Tubby-like protem TULP1 6

Tuberous sclerosis 1 TSC1 6

Tuberous sclerosis 2 TSC2 6

Tumor susceptibility gene 101 TSG101 6

Tumour necrosis factor (TNF) receptor TRAF1 4 associated factor 1

Tumour necrosis factor (TNF) receptor TRAF2 4 associated factor 2

Tumour necrosis factor (TNF) receptor TRAF3 4 associated factor 3

Tumour necrosis factor (TNF) receptor TRAF4 4 associated factor 4

Tumour necrosis factor (TNF) receptor TRAF5 associated factor 5

Tumour necrosis factor (TNF) receptor TRAF6 associated factor 6

Tumour necrosis factor alpha TNFA 4

Tumour necrosis factor alpha receptor TNFAR 4

Tumour necrosis factor beta TNFB 4

Tumour necrosis factor beta receptor TNFBR 4

Tumour protein p53 TP53,P53 6

Tumour protein p63 TP63 6

Tumour protein p73 TP73 6

Tumour protein, tianslationally-controlled 1 TPT1 6

Tumour suppresssor gene DRA DRA 4

Tyrosinase TYR

Tyrosinase-related protein 1 TYRP1

Tyrosine aminotransferase TAT

Ubiquitin activating enzyme, El

Ubiquitin protein ligase E3 A UBE3A

Uncoupling protein 3 UCP3 2

Undulin 1 COL14AI 3

Uroporphyrinogen decarboxylase UROD 1

Usher syndrome 2A USH2A 3

Vacuolar proton pump, subumt 1 VPP1 5

Vacuolar proton pump, submiit 3 VPP3 5

Vascular endothelial growth factor VEGF 6

Vasoactive mtestinal polypeptide VIP 5

Vasoactive mtestmal polypeptide receptor VIPR 5

Villin 3

V culm 3

Vitamm D receptor VDR 6 Vitelliform macular dystrophy, atypical gene VMD1 2

Von Hippel-Lindau gene VHL 6

Von Willebrand factor VWF 2

Werner syndrome helicase WRN 6

Winged helix nude WHN 6

Wingless family, wnt2 WNT2 6

Wingless family, wnt4 WNT4 6

Wmgless family, wnt5 WNT5 6

Wingless fami y, wnt7 WNT7 6

Wingless family, wnt8 WNT8 6

Wiskoft-Aldrich syndrome protein WASP, THC 4

Wnt inMbitory factor, WIF-1 WIF1 6

Wolf-Hirschhom syndrome candidate 1 gene WHSC1 6

Wolfram syndrome 1 gene WFS1 3

Xeroderma pigmentosum, complementation XPA group A

Xeroderma pigmentosum, complementation XPB group B

Xeroderma pigmentosum, complementation XPC group C .

Xeroderma pigmentosum, complementation group D

Xeroderma pigmentosum, complementation group E

Xeroderma pigmentosum, complementation XPF group F

Xeroderma pigmentosum, complementation ERCC5 group G

X-ray repair gene XRCC9

Legende für die Spalte Proteinfunktion:

1 Enzym 2 Transport und Lagerung

3 Struktur 4 Immumtät

5 Nervale Transmission 6 Wachstum und Differenzierung

Tabelle 14 endokrine und metabolische Fehlfunktion, Schädigung oder Erkrankung

Liste der Gene HUGO Protein¬

Gensymbol funktion

17beta Hydroxysteroid dehydrogenase 1 HSD17B1

17beta Hydroxysteroid dehydragenase 3 HSD17B3

17beta Hydroxysteroid dehydrogenase 4 HSD17B4

17beta Hydroxysteroid oxidoreductase

17-Ketosteroid reductase

18-Hydroxysteroid oxidoreductase

2,3-Bisphosphoglycerate mutase BPGM

2,4-Dienoyl CoA reductase DECR

3 beta Hydroxysteroid dehydrogenase 2 HSD3B2

3-Oxoacid CoA tiansferase OXCT

5-Adenosyl homocysteme hydrolase

6-Phosphofructo-2-kMase PFKFBL

6-Pyruvoyltetrahydropterin synthase PTS

Acetoacetyl 1-CoA-tMolase ACAT1

Acetyl CoA acyltiansferase ACAA

Acetyl CoA carboxylase ACC

Acetyl CoA carboxylase alpha ACACA

Acetylcholinesterase ACHE

Acid phosphatase 2, lysosomal ACP2

Actin, alpha, cardiac ACTC 3

Actin, alpha, skeletal ACTA1 3

Actin, alpha, smooth, aortic ACTA2 3

Activm 6

Activin A receptor, type 2B ACVR2B 6

Activm A receptor, type 2-like Idnase 1 ACVRL1 6

Acyl CoA dehydrogenase, long cham ACADL 1

Acyl CoA dehydrogenase, medium chain ACADM 1

Acyl CoA dehydrogenase, short cham ACADS 1

Acyl CoA dehydrogenase, very long cham ACADVL 1

Acyl CoA synthetase, long chain, 1 LACS1 1

Acyl CoA synthetase, long chain, 2 LACS2 1

Acyl CoA synthetase, long cham, 4 ACS4 1

Acyl malonyl condensing enzyme 1

Adenomatous polyposis coli tixmour APC 6 supressor gene

Adenosine deaminase ADA 1

Adenosine monophosphate deammase AMPD 1

Adenosme receptor AI ADORA1 5

Adenosine receptor A2A ADORA2A 5

Adenosme receptor A28 ADORA2B 5

Adenosine receptor A3 ADORA3 5 Adenyl cyclase 5

Adenylate cyclase 1 ADCY1

Adenylate cyclase 2 ADCY2

Adenylate cyclase 3 ADCY3

Adenylate cyclase 4 ADCY4

Adenylate cyclase 5 ADCY5

Adenylate cyclase 6 ADCY6

Adenylate cyclase 7 ADCY7

Adenylate cyclase 8 ADCY8

Adenylate cyclase 9 ADCY9

Adenylate transferase

ADP-ribosyltiansferase ADPRT

Adrenergic receptor, alphal ADRA1 5

Adrenergic receptor, alpha2 ADRA2 5

Adrenergic receptor, betal ADRB1 5

Adrenergic receptor, beta2 ADRB2 5

Adrenergic receptor, beta3 ADRB3 5

Adrenoleukodystiophy gene ALD 1

Albumin, ALB ALB 2

Alcohol dehydrogenase ADH 1

Alcohol dehydrogenase 2 ADH2 1

Alcohol dehydrogenase 3 ADH3 1

Alcohol dehydrogenase 4 ADH4 1

Alcohol dehydrogenase 5 ADH5 1

Alcohol dehydrogenase 6 ADH6 1

Alcohol dehydrogenase 7 ADH7 1

Aldehyde dehydrogenase 1 ALDH1 1

Aldehyde dehydrogehase 10 ALDH10 1

Aldehyde dehydrogenase 2 ALDH2 1

Aldehyde dehydrogenase 5 ALDH5 1

Aldehyde dehydrogenase 6 ALDH6 1

Aldehyde dehydrogenase 7 ALDH7 1

Aldolase A ALDOA 1

Aldolase B ALDOB 1

Aldolase C ALDOC 1

Aldosterone receptor MLR 6

Alkaline phosphatase, liver/bone/kidney ALPL 2

Alkylglycerone phosphate synthase AGPS 1

Alpha 1 acid glycoprotem AAG; AGP 2 alphal -antitrypsm Pl 1 alpha-act in 2 ACTN2 6 alpha-actimn 3 ACTN3 6 alpha-amino adipic semialdehyde synthase 1 alpha-glucosidase, neutral AB GANAB 1 alpha-glucosidase, neutral C GANG 1 alpha-ketoglutarate dehydrogenase 1

Aminomethyltransferase AMT 1 Ammopeptidase P XPNPEP2 1

AmpMregulm AREG 6

Amylo-1 ,6-glucosidase AGL 1

Androgen receptor AR 6

Angiopoietin 1 ANGPT1 6

Angiopoietin 2 ANGPT2 6

Angiotensin converting enzyme ACE,DCPL 1

Angiotensm receptor 1 AGTR1 2

Angiotensin receptor 2 AGTR2 2

Anglotensinogen AGT 1

Anti-Multerian, hormone AMH 6

Anti-Mullerian hormone type 2 receptor AMHR2 6

Apolipoprotein A I APOA1 2

Apolipoprotem A II APOA2 2

Apolipoprotein B APOB 2

Apolipoprotein Cl APOC1 2

Apolipoprotein C2 APOC2 2

Apolipoprotein C3 APOC3 2

Apolipoprotein D APOD 2

Apolipoprotein E APOE 2

Apolipoprotein H APOH 2

Aquaporin 1 AQP1 2

Aquaporin 2 AQP2 2

Argimne vasopressin AVP 5

Argimne vasopressin receptor 1 A AVPR1A 5

Argimne vasopressm receptor 2B AVPR1B 5

Argimne vasopressin receptor 2 AVPR2 5

Asparagme synthetase AS 1

Aspartate transcarbamoylase 1

Ataxia telangiectasia complementation group D ATD,ATDC 6

Ataxia telangiectasia gene, AT ATM 6

ATP cobalamin adenoxyltiansferase 1

Atiial natriuretic peptide ANP 6

Atriai natriuretic peptide receptor A NPR1 6

Atiial natriuretic peptide receptor B NPR2 6

Atdal natriuretic peptide receptor C NPR3 6

Attractin

Autoimmune regulator, AIRE AIRE beta-endorpMn receptor 5 beta-galactosidase GLB I 1 beta-ketoacyl reductase 1

Bile acid coenzyme A: amino acid N- BAAT 1 acyltiansferase

Bile salt export pump BSEP, PFIC2 2

Bile salt-stimulated lipase CEL 1

Bilimbm UDP-glucuronosyltiansferase 1

Bloom syndrome protem BLM 6 Bradykimn receptor Bl 4

Bradykimn receptor B2 4

Branched cham ammotiansferase 1, cytosolic BCAT1 1

Branched cham aminotransferase 2, BCAT2 1 mitochondrial

Branched cham keto acid dehydrogenase El, BCKDHA 1 alpha polypeptide

Branched cham keto acid dehydrogenase El, BCKDHB 1 beta polypeptide

Butyrylcholinesterase BCHE 1

C 17-20 desmolase 1

C3 convertase 1

Calbindin 1 CALB1 6

Calbmdm DgK CALB3 6

Calcineurin AI CALNA1 4

Calcineurin A2 CALNA2 4

Calcineurin A3 CALNA3 4

Calcineurin B 4

Calcitonm receptor /Calcitomn gene-related CALCR 5 peptide receptor

Calcitomn/Calcitomn gene-related peptide alpha CALCA 5

Calcium channel, voltage-dependent, alpha CACNA1F 5

I F subunit

Calcium channel, voltage-dependent, Alpha- CACNA1B 5

I B (CACNL1A5)

Calcium channel, voltage-dependent, Alpha- 1 C CACNA1C 5

Calcium channel, voltage-dependent, Alpha- 1 D CACNA1D 5

Calcium channel, voltage-dependent, Alpha- CACNA1E 5

1 E (CACN1A6)

Calcium channel, voltage-dependent, Alpha- CACNA2 5

2/delta

Calcium channel, voltage-dependent, Beta 1 CACNB1 5

Calcium channel, voltage-dependent, Beta 3 CACNB3 5

Calcium channel, voltage-dependent, L type, CACNALS 5 alpha IS subumt

Calcium channel, voltage-dependent, CACNG2 5

Neuronal, Gamma

Calcium channel, voltage-dependent, P/Q CACNA1A 5 type, alpha 1A subimit

Calcium channel, voltage-dependent, T-type 5

Calcium sensmg receptor CASR 2

Calmodulm 1 CALM1 6

Calmodutin 2 CALM2 6

Calmodulm 3 CALM3 6

Calmodulin-dependant protem Idnase II CAMK2A 6

Calnexm CANX 6

Calpain CAPN,CAPN3 1 Calretimn CALB2 5

Canalicular multispecific orgamc amon CMOAT 2 tiansporter Cannabmoid receptor CNR1 Carbomc anhydrase 3 CA3 Carbomc anhydrase 4 CA4 Carbomc anhydrase, alpha CA1 Carbomc anhydrase, beta CA2 Carboxylesterase 1 CES1 Cardiac-specific homeobox, CSX CSX Camitine acetyltiansferase CRAT Carmtine acylcamitine translocase CACT Camitine palmitoyltransferase I CPT1A Carmtine palmitoyltransferase II CPT2 Camitine tiansporter protein CDSP, SCD 2 Carnosinase 5

Cartilage-hair hypoplasia gene CHH 5 Catechol-o-methyltransferase COMT 1 Cell adhesion molecule, intercellular, ICAM ICAM1 6 Cell adhesion molecule, leukocyte- LECAMl 6 endothelial, LECA (CD62) Cell adhesion molecule, liver, LCAM LCAM 6 Cell adhesion molecule, neural, NCAMl NCAMl 6 Cell adhesion molecule, neural, NCAM2 NCAM2 6 Cell adhesion molecule, platelet-endothelial, PECAMl 6 PECAM

Cell adhesion molecule, vascular, VCAM VCAMl 6 c-erbB2 ERBB2 6 c-erbB3 ERBB3 6 c-erbB4 ERBB4 6 CMtotriosidase CHIT 1 Cholecystokimn CCK 5 Cholecystokimn B receptor CCKBR 5 Cholesterol ester hydroxylase 1 Cholesterol ester transfer protein CETP 2 Choline acetyltiansferase CHAT 1 CMomogra n A CHGA 6 Chymase CHY1 Citrate synthase 1 Clathrin 2 Clusterin CLU 6 CoA transferase 1 Collagen IV alpha 5 COL4A5 3 Collagen TV alpha 6 COL4A6 3 Complex III 1 Complex V MTATP6 1 Corticosteroid bmding globulin CBG 5 CorticotropMn-releasmg hormone CRH 2

CorticotropMn-releasing hormone receptor CRHR1 2

Cortisol receptor 4

Cubilm CUBN 2

Cyclic AMP-dependent protem Idnase PKA

Cyclic nucleotide phosphodiesterase IB PDE1B

Cyclic nucleotide phosphodiesterase IBl PDE1B1

Cyclic nucleotide phosphodiesterase 2A3 PDE2A3

Cyclic nucleotide phosphodiesterase 3 A PDE3A

Cyclic nucleotide phosphodiesterase 3B PDE3B

Cyclic nucleotide phosphodiesterase 4A PDE4A

Cyclic nucleotide phosphodiesterase 4C PDE4C

Cyclic nucleotide phosphodiesterase 5 A PDE5A

Cyclic nucleotide phosphodiesterase 6A PDE6A

Cyclic nucleotide phosphodiesterase 6B PDE6B

Cyclic nucleotide phosphodiesterase 7 PDE7

Cyclic nucleotide phosphodiesterase 8 PDE8

Cyclic nucleotide phosphodiesterase 9A PDE9A

Cyclin-dependent kinase inMbitor IC (P57, CDKN1C 6

KIP2)

Cyclin-dependent Idnase inMbitor 2 A (pl 6) CDKN2A 6

Cyclooxygenase I COX1

Cyclooxygenase 2 COX2

CYP11A1 CYP11A1

CYP11B1 CYP11B1

CYP11B2 CYP11B2

CYP17 CYP17

CYP19 CYP19

CYPIAI CYPIAI

CYP1A2 CYPIA2

CYP1B1 CYP1B1

CYP21 CYP21

CYP24 CYP24

CYP27 CYP27

CYP27B1 PDDR

CYP2A1 CYP2A1

CYP2A13 CYP2A13

CYP2A3 CYP2A3

CYP2A6V2 CYP2A6V2

CYP2A7 CYP2A7

CYP2B6 CYP2B6

CYP2C18 CYP2C18

CYP2C19 CYP2C19

CYP2C8 CYP2C8

CYP2C9 CYP2C9

CYP2D6 CYP2D6

CYP2E1 CYP2E1 CYP2F1 CYP2F1 1

CYP2J2 CYP2J2 1

CYP3A3 CYP3A3 1

CYP3A4 CYP3A4 1

CYP3A5 CYP3A5 1

CYP3A7 CYP3A7 1

CYP4AII CYP4AII 1

CYP4BI CYP4BI 1

CYP4F2 CYP4F2 1

CYP4F3 CYP4F3 1

CYP51 CYP51 1

CYP5A1 CYP5A1 1

CYP7A CYP7A 1

CYP8 CYP8 1

CystatMonase CTH 1

CystatMone beta synthase CBS 1

Cystic fibrosis tiansmembrane conductance CFTR 5 regulator, CFTR

Cystinosin CTNS 2

Cytidine deaminase CDA 1.

Cytidme-5-prime-triphosphate synthetase CTPS 1

CytocMome a

CytocMome c

CytocMome c oxidase, MTCO

Cytokine-suppressive antiinflammatory drug- CSBPl 4 binding protein 1

Cytokine-suppressive antiinflammatory drug- CSBP2 4 binding proteM 2

DAXl nuclear receptor DAXl 4

D-beta-hydroxybutyrate dehydrogenase

Dehydratase

Delta 4-5 oxosteroid isomerase

Delta aminolevulinate synthase 1 ALAS1 1

Delta amMolevminate synthase 2 ALAS2 1

Deoxycorticosterone (DOC) receptor

Deoxyuridine tiiphosphatase; dUTPase

DHEA sulfotransferase STD 1

Dihydrodiol dehydrogenase 1 DDH1 1

Dihydrolipoamide branched cham DBT 5 tiansacylase

Dihydrolipoamide dehydrogenase DLD 5

Dihydrolipoyl dehydrogenase 2 PDHA 1

Dihydrolipoyl transacetylase PDHA 1

Dihydroorotase

DMydropyramidinase DPYS 1

Düiydroxyacetonephosphate acyltiansferase DHAPAT 1

Dihyropyrimidine dehydrogenase DPYD 1 DNA glycosylases

DNA helicases

DNA Ligase 1 LIG1

DNA methyltransferase DNMT

DOPA decarboxylase DDC

Dopamine beta hydroxylase DBH

Dopamme receptors Dl DRD1 5

Dopamine receptors D2 DRD2 5

Dopamme receptors D3 DRD3 5

Dopamine receptors D4 DRD4 5

Dopamine receptors D5 DRD5 5

Dynamm DNM1 6

Electron-transfering-flavoprotein alpha ETFA 2

Electron-tiansfering-flavoprotein beta ETFB 2

Electron-tiansferring flavoprotem ETFDH 1 dehydrogenase

Endometrial bleeding-associated factor EBAF 6

Endothelin converting enzyme ECEI 5

Endothelin receptor type A EDNRA 5

Endothelin receptor type B EDNRB 5

Enolase ENO1 1

Enoyl CoA reductase 1

Enterokinase PRSS7,ENTK 1

Ephrin receptor tyrosme Idnase A EPHA 6

Ephrin receptor tyrosine Idnase B EPHB 6

Epidermal growth factor EGF 6

Epidermal growth factor receptor EGFR 6

ErytMopoietin EPO 4

Estrogen receptor ESR 6

Excision repair complementation,group 1 ERCC1 1 protein

Factor 1 (No. one) FI 4

FADH dehydrogenase 1

Fatty acid binding proteins FABP2 FABP2 2

Fc fragment of IgG, Mgh affimty IA, receptor FCGRIA 6 for

Fc fragment of IgG, low affimty Ila, receptor FCGR2A for (CD32)

Fc fragment of IgG, low affimty lila, receptor FCGR3A for (CDI 6)

Ferritin, H subumt 2

Ferritin, L subumt FTL 2

Fibrinogen alpha FGA 3

Fibrinogen beta FGB 3

Fibrinogen gamma FGG 3

Fibroblast growth factor FGFI 6

Fibroblast growth factor receptor 1 FGFR1 6 Fibroblast growth factor receptor 2 FGFR2 6

Fibroblast growth factor receptor 3 FGFR3 6

FlavM-containing monooxygenase 1 FMOL 1

Flavin-containing monooxygenase 2 FMO2 1

Flavm-contaimng monooxygenase 3 FMO3 1

Flavm-contaimng monooxygenase 4 FMO4 1

Follicle stimulatmg hormone receptor FSHR,ODGl 6

Follicle stimulating hormone, FSH FSHB 6

Follistatin 6

Frataxin FRDA 6

Fructose- 1 ,6-diphosphatase FBP1 1

Fumarase FH 1

Fumarylacetoacetase FAH 1

GABA receptor, alpha 1 GABRA1 5

GABA receptor, alpha 2 GABRA2 5

GABA receptor, alpha 3 GABRA3 5

GABA receptor, alpha 4 GABRA4 5

GABA receptor, alpha 5 GABRA5 5

GABA receptor, alpha 6 GABRA6 5

GABA receptor, beta 1 GABRB1 5

GABA receptor, beta 2 GABRB2 5

GABA receptor, beta 3 GABRB3 5

GABA receptor, gamma 1 GABRG1 5

GABA receptor, gamma 2 GABRG2 5

GABA receptor, gamma 3 GABRG3 5

GABA transaminase ABAT 1

Galactocerebrosidase GALC 1

Galactokinase GALK1 1

Galactose 1 -phosphate uridyl-tiansferase GALT 1

Galamn GAL 5

Galamn receptor GALNRI 5

Gamma-glutamyl carboxylase GGCX 2

Gamma-glutamyltransferase 1 GGT1 2

Gamma-glutamyltransferase 2 GGT2 2

Gap junction protein beta 1 GJB1 2

Gap junction protein beta 3 GJB3 2

Gastric inMbitory polypeptide GIP GIP 2

Gastric inMbitory polypeptide receptor, GIPR GIPR 2

Gastric Intrinsic factor, GIF GIF 1

Gastiic lipase, LIPF 2

Gastrin GAS 6

Gastim releasmg peptide GRP 2

Gastrin releasMg peptide receptor GRPR 2

Glucagon receptor GCGR 6

Glucagon synthase 2

Glucagon-like peptide receptor 1 GLP1 R 6

Glucocorticoid receptor GRL 6 GlucokMase GCK

Glucosaminyl (N-acetyl) tiansferase 2, 1- GCNT2 branchmg enzyme

Glucose-6-phosphatase G6PC

Glucose-6-phosphatase translocase G6PT1

Glucose-6-phosphate dehydrogenase G6PD

Glucosidase, acid beta GBA

Glutamate decarboxylase, GAD GAD1

Glutamate dehydrogenase GLUD1

Glutamine phosphoribosylpyrophosphate amidotransferase/PRPP amidotransferase

Glutamine synthase

GlutatMone GSH 2

GlutatMone peroxidase, GPX2 GPX2

GlutatMone reductase, GSR GSR

GlutatMone S-transferase, GSTZI GSTZI

GlutatMone synthetase GSS

Glyceraldehyde-3 -phosphate dehydmgenase, GAPDH

GAPDH

Glycerol kinase GK

Glycerophosphate d hydrogenase 2 GPD2

Glycmamide ribonucleotide (GAR) GART tiansformylase

Glycine dehydrogenase GLDC

Glycogen brancMng enzyme GBE1

Glycogen phosphorylase PYGL

Glycogen synthase 1 (muscle) GLYS1

Glycogen synthase 2 (liver) GYS2

Glycosyltiansferases, ABO blood group ABO

Gonadotropin releasmg hormone GNRH 6

Gonadotropin releasing hormone receptor GNRHR 6

Growth arrest-specific homeobox GAX 6

Growth hormone 1 GH1 6

Growth hormone 2 (placental) GH2 6

Growth hormone receptor GHR 6

Growth hormone releasing hormone (GHRH) GHRH 6

Growth hormone releasmg hormone receptor GHRHR 6

GTP cylcohydrolase I GCHI 6

GTPase-activating protein, GAP RASAI 6

Guamdinoacetate N-methyltransferase GAMT 1

Guamne nucleotide-binding protein, alpha GNA01 5 activating activity polypeptide, GNAO

Guamne nucleotide-bmding proteM, alpha GNA11 5 inMbiting activity polypeptide 1, GNA 11

Guamne nucleotide-bmding protein, alpha GNA12 5

MMbiting activity polypeptide 2, GNA 12 Guamne nucleotide-bmdmg protem, alpha GNA13 5 inMbiting activity polypeptide 3, GNA 13

Guamne nucleotide-bMdmg protem, alpha GNAS1 5 stimulating activity polypeptide, GNAS1

Guamne nucleotide-binding protein, alpha GNAS2 5 stimulating activity polypeptide, GNAS2

Guamne nucleotide-bmding protein, alpha GNAS3 5 stimulating activity polypeptide, GNAS3

Guamne nucleotide-bindmg protem, alpha GNAS4 5 stimulating activity polypeptide, GNAS4

Guamne nucleotide-binding protein, alpha GNATI 5 transducing activity polypeptide, GNATI

Guamne nucleotide-bindmg protein, alpha GNAT2 5 transducing activity polypeptide, GNAT2

Guamne nucleotide-binding protein, beta GNB3 5 polypeptide 3

Guamne nucleotide-bmding protem, gamma GNG5 5 polypeptide 5

Guamne nucleotide-bmding protein, q GNAQ 5 polypeptide

Guanylate cyclase 2D, membrane (retina- GUCY2D 1 specific)

Guanylate cyclase activator 1A (retina) GUCA1A 1

Guanylate kinase 1

Guanylin GUCA2 2

Guanylyl cyclase 1

Heat shock protein, HSP60 4

Heat shock protein, HSP70 4

Heat shock protein, HSP90 4

Heat shock protein, HSPA1 4

Heat shock protein, HSPA2 4

Hemopexin HPX 4

Heparin binding epidermal growth factor HBEGF 6

Hepatic lipase LIPC

Hepatic nuclear factor-3-beta HNF3B

Hepatic nuclear factor-4-alpha HNF4A

Hexokinase 1 HK1

Hexoldnase 2 HK2

Hexosamimdase A HEXA,TSD

Hexosamimdase B HEXB

Histamme receptors, Hl 5

Histamine receptors, H2 5

Histamme receptors, H3 5

HMG-CoA lyase HMGCL 1

HMG-CoA reductase HMGCR 1

HMG-CoA synthase HMGCS2 1

Holocarboxylase synthetase HLCS 1 Holoprosencephaly 1 HPE1 6

Holoprosencephaly 2 HPE2 6

Holoprosencephaly 3 HPE3 6

Holoprosencephaly 4 HPE4 6

Homeobox (HOX) gene AI 3 HOXA13 6

Hormone-sensitive lipase HSL 1

HSSB, replication protein 1

Human chorionic gonadtrophm, hCG CG 6

Human placental lactogen CSH1 6

Hydroxyacyl glutatiiione hydrolase HAGH 1

HypoxantMne-guamne HPRT 1 phosphoribosyltransferase, HGPRT

Hypoxia inducible factor 1 HIF1A 1

Hypoxia inducible factor 2 1

Iduronate 2 sulphatase IDS 1

Immunoglobulm E (IgE) reponsiveness gene IGER 4

Immunoglobulin E (IgE) serum concentration IGES 4 regulator gene

Immunoglobulm gamma (IgG) 2 IGHG2

Indian hedgehog, ihh IHH 6

InMbin, alpha INHA 6

InMbin, beta A INHBA 6

InMbin, beta B INHBB 6

InMbin, beta C INHBC 6

Inosine monophosphate dehydrogenase, 1

IMPDH

Inosine tiiphosphatase ITPA 1

Inositol 1,4,5-tiiphosphate receptor I ITPR1 6

Mositol monophosphatase IMPA1 5

Inositol polyphosphate 1 -phosphatase INPP1 5

Insulin INS 6

Insulm receptor INSR 6

Insulin receptor Substrate- 1 IRS1 6

InsulM-like growth factor 1 IGF1 6

Insulin-like growth factor 1 receptor IGF1R 6

Insulin-like growth factor 2 IGF2 6

Insulin-like growth factor 2 receptor IGF2R 6

Mtegrin beta 1 TGB1 6

Mtegrin beta 2 ITGB2 6

Mterleukin(IL) 1 receptor IL1R

Mterleukin(IL) 1, alpha IL1A

Mterleukm(IL) 1, beta IL1B

Mterleukin(IL) 10 IL10

Interleu_dn(IL) 10 receptor IL10R terleukM(IL) l l IL11

Interleukin(IL) 11 receptor IL11R

Interleukin(IL) 12 IL12 Mterleukin(IL) 12 receptor, beta 1 IL12RB1

Mterleukm(IL) 13 IL13

Mterleuldn(IL) 13 receptor IL13R

Interleukin(IL) 2 IL2

Mterleukin(IL) 2 receptor, alpha IL2RA

Interleuldn(IL) 2 receptor, gamma IL2RG

Mterleukin(IL) 3 IL3

InterleukM(IL) 3 receptor IL3R

Interleukin(IL) 4 IL4

Interleukin(IL) 4 receptor IL4R

MterleukM(IL) 5 IL5

Interleukin(IL) 5 receptor IL5R

Mterleukin(IL) 6 IL6

InterleukM(IL) 6 receptor IL6R

MterleukM(IL) 7 IL7

Mterleukin(IL) 7 receptor IL7R

Interleukin(IL) 8 IL8

Mterleukin(IL) 8 receptor IL8R

Interleukin(IL) 9 IL9

Mterleukin(IL) 9 receptor IL9R

Interleuldn(IL) receptor antagomst 1 IL1RN, IL1RA 4

Iodothyromne-5'-deiodinase, type 1 and 2 1

IP3 kinase 1

Islet amyloid polypeptide IAPP 5

Isocitrate dehydrogenase 1

Isovaleric acid CoA dehydrogenase IVD 1

Janus kinase 1 JAK1 6

Janus Idnase 2 JAK2 6

Janus kinase 3 JAK3 6

KalMian syndrome gene KALI 6

Ketohexokinase KHK 1

Ketolase 1

Lactase 1

Lactotransferrin LTF 2

Lammin 5, alpha 3 LAMA3 6

Lamimn 5, beta 3 LAMB3 6

Lamimn receptor 1 LAMR1 6

LecitMn-cholesterol acyltiansferase LCAT 1

Leptin LEP 6

Leptin receptor LEPR 6

Leukotriene C4 synthase LTC4S 1

LH/choriogonadotropin (CG) receptor LHCGR 6

Lipoamide dehydrogenase OGDH 1

Lipoprotem lipase LPL 4

Lipoprotem, High Density HDLDT1 2

Lipoprotein, Mtermediate Density 2

Lipoprotem, Low Density 1 2 Lipoprotem, Low Density 2 2

Lipoprotein, Very Low Density VLDLR 2

Lipoprotem-associated coagulation factor LACI 4

Lipoxygenase 1

Lipoxygenase 12 (platelets) LOG12

Lipoxygenase 5 (leukocytes)

LuteimzMg hormone, beta cham LHB 6

Lymphocyte-specific protein tyrosme kinase LCK 4

Lysosomal acid lipase LIPA 1

MAD (mothers against decapentaplegic, MADH2 6

DrosopMla) homologue 2

Malate dehydrogenase, mitochondrial MDH2 1

Malonyl CoA decarboxylase 1

Malonyl CoA transferase 1

Maltase-glucoamylase 1

Mannosidase, alpha B lysosomal MANB 1

Mannosyl (alpha- l,6-)-glycoprotein beta-1, 2- MGAT2 2

N-acetylglucosammyltiansferase

Marenostiin MEFV 2

Matrix Gla protem MGP 6

MEK Idnase, MEKK 1

Melanocortin 2 receptor MC2R 2

Melanocortin 4 receptor MC4R 2

Memn MEN1 6

MetMomne adenosyltiansferase MAT1A, MAT2A 1

MetMomne synthase MTR 1

MetMomne synthase reductase MTRR 1

Methylguamne-DNA methyltiansferase MGMT 1

Methylmalonyl-CoA mutase MUT 1

Mitochondrial trifunctional protem, alpha HADHA 1 subumt

Mitochondrial trifunctional protein, beta HADHB 1 subimit

Molybdenum cofactor synthesis 1 MOCS1 1

Molybdenum cofactor synthesis 2 MOCS2 1

Monoamine oxidase A MAOA 1

Monoamine oxidase B MAOB 1

Multidrug resistance associated protein MRP 6

Muscarimc receptor, Ml CHRM1 5

Muscarimc receptor, M2 CHRM2 5

Muscarimc receptor, M3 CHRM3 5

Muscarimc receptor, M4 CHRM4 5

Muscarimc receptor, M5 CHRM5 5

Muscle phosphorylase PYGM 1

Na+, K+ ATPase, alpha ATP1A1 6

Na+, K+ ATPase, beta 1 ATP IBl 6

Na+, K+ ATPase, beta 2 ATP1B2 6 Na+, K+ ATPase, beta 3 ATP1B3 6

Na+/H+ exchanger 1 NHE1 2

Na+/H+ exchanger 2 NHE2 2

Na+/H+ exchanger 3 NHE3 2

Na+/H+ exchanger 4 , NHE4 2

Na+/H+ exchanger 5 NHE5 2

N-acetyltransferase 1 NAT1 1

N-acetyltransferase 2 NAT2 1

NADH dehydrogenase (ubiquinone) Fe-S NDUFS1 1 protein 1

NADH dehydrogenase (ubiquinone) Fe-S NDUFS4 1 proteM 4

NADH dehydrogenase (ubiqumone) NDUFV1 1 avoprotein 1

NADH-cytocMome b5 reductase DIA1 1 reductase

NADPH-dependent cytocMome P450 reductase POR 1

NepMonophtMsis 1 NPHP1 2

NepMosis 1 NPHS1 2

Nerve growth factor NGF 6

Nerve growth factor receptor NGFR 6

Neuramimdase sialidase NEU 2

Neuregulin HGL 6

NeuroendocrMe convertase 1 NEC1, PCSK1 1

Neurofibromin 1 NF1 6

Neurofibromin 2 NF2 6

Neuropeptide Y NPY 5

Neuropeptide Y receptor Yl NPYI R 5

Neuropeptide Y receptor Y2 NPY2R 5

Neurotensin NTS 5

Neurotensin receptor NTSR1 5

NeurotropMn 3 NTF3 orNT3 6

Neutral endopeptidase 1

Niemann-Pick disease protein NPC1 2

Nitric oxide synthase 1, NOSl NOSl 1

Nitric oxide synthase 2, NOS2 NOS2 1

Nitric oxide synthase 3, NOS3 NOS3 1

Notch ligand -jagged JAG1, AGS 6

Nucleoside diphosphate Idnase-A NDPKA 1

Oncogene ret RET 6

Oncogene sis PDGFB 6

Orexin OX 6

Orexm 1 receptor OX1R 6

Orexin 2 receptor OX2R 6

OmitMne delta-aminotransferase OAT 1

OmitMne transcarbamoylase OTC, NME1 1

Oxytocm OXT 5 Oxytocin receptor OXTR 5

Paired box homeotic gene 6 PAX6 6

Paired box homeotic gene 8 PAX8 6

PaMiitoyi-protem tMoesterase PPT 2

Pancreatic lipase PNLIP 1

Paraoxonase PONI PONI 1

Paraoxonase PON2 PON2 1

Paraoxonase PON3 1

Parathyroid hormone PTH 6

Parathyroid hormone receptor PTHR1 6

Parathyroid hormone related-peptide PTHRP 6

Parathyroid hormone-like hormone PTHLH 6

Peanut-like 1 PNUTL1 4

Peptidylglycme alpha-amidating PAM 1 monooxygenase

Peroxidase, salivary SAPX 1

Peroxisomal membrane protein 3 PXMP3 2

Peroxisome biogenesis factor 1 PEX1 2

Peroxisome biogenesis factor 19 PEX19 2

Peroxisome biogenesis factor 6 PEX6 2

Peroxisome biogenesis factor 7 PEX7 2

Peroxisome proliferative activated receptor, PPARA 2 alpha

Peroxisome proliferative activated receptor, PPARG gamma

P-glycoprotein I PGY1 2

P-glycoprotem 3 PGY3 2

PhenylaiaMne hydroxylase PAH 1

Phenylatamne monooxygenase 1

Phenylethanolamine N-methyltiansferase, PNMT 1

PNMT

Phosphodiesterase 1 / nucleotide PDNP1 pyrophosphatase 1

Phosphodiesterase 1 / nucleotide PDNP2 pyrophosphatase 2

Phosphodiesterase 1 / nucleotide PDNP3 pyrophosphatase 3

Phosphoenolpyruvate carboxykinase PCK1

Phosphofructokinase, liver PFKL

Phosphofructoldnase, muscle PFKM

Phosphoglucomutase

Phosphoglucose isomerase GPI

Phosphoglycerate Mnase 1 PGK1

Phosphoglycerate mutase 2 PGAM2

Phospholipase A2, group 10 PLA2G10 4

Phospholipase A2, group IB PLA2G IB 4

Phospholipase A2, group 2A PLA2G2A 4 Phospholipase A2, group 2B PLA2G2B 4

Phospholipase A2, group 4A PLA2G4A 4

Phospholipase A2, group 4C PLA2G4C 4

Phospholipase A2, group 5 PLA2G5 4

Phospholipase A2, group 6 PLA2G6 4

Phospholipase C alpha 4

Phospholipase C beta 4

Phospholipase C delta PLCD1 4

Phospholipase C epsilon 4

Phospholipase C gamma PLCG1 4

Phosphomannomutase 2 PMM2 6

Phosphomannomutase 2 PMM2 2

Phosphomannose isomerase- 1, PMI MPI 2

Phosphoribosyl pyrophosphate synthetase PRPS1

Phosphorylase kinase deficiency, liver PHK

Phosphorylase kinase, alpha 1 (muscle) PHKA1

Phosphorylase Idnase, alpha 2 PHKA2

Phosphorylase Idnase, beta PHKB

Phosphorylase kinase, delta

Phosphorylase kinase, gamma 2 PHKG2

Phytanoyl-CoA hydroxylase PHYH 6

Pineolytic beta-receptors 1

Pituitary adenylate cyclase activating peptide PACAP 5

Pituitary adenylate cyclase activating peptide PACAPIR 5 receptor

Plasminogen activator receptor, Urokinase UPAR;PLAUR 3

Plasmmogen activator, Tissue PLAT;TPA 1

Plasminogen activator, Urokinase UPNPLAU 1

Platelet derived growth factor PDGF 6

Platelet derived growth factor receptor PDGFR 6

Poly (ADP-ribose) synthetase PARS 1

Polycystin 1 PKD1 2

Polycystin 2 PKD2 2

Porphobilinogen deaminase HMBS 1

Potassium inwardly-rectifymg channel Jl KCNJ1 5

Potassium mwardly-rectifying channel Jl 1 KCNJ11 5

Potassium voltage-gated channel AI KCNA1 5

Potassium voltage-gated channel El KCNE1 5

Potassium voltage-gated channel Ql KCNQl 5

Preproenkephalin PENK 5

Preproglucagon GCG;GLP1; GLP2 6

Preproglucagon 2

Prepromsulin 2

Profibrinolysm 6 receptor)

Prolactin PRL 6

Prolactin receptor PRLR 6 Prolactin releasmg hormone PRH 6

Proliferin PLF 6

Protine dehydrogenase PRODH 1

Prolme-rich protem BstNI subfamily 1 PRB1 3

Proline-rich protem BstNI subfamily 3 PRB3 3

ProlMe-rich protein BstNI subfamily 4 PRB4 3

Pro-melamn-concentiating hormone PMCH 6

Proopiomelanocortin POMC 5

Prophet of Pitl PROP1 6

Prostacyclin synthase 4

Prostaglandm (PG) D synthase, PGDS 1 hematopoietic

Prostaglandm 15-OH dehydrogenase HGPD;PGDH 4

Prostaglandm D - DP receptor 4

Prostaglandin El receptor 4

Prostaglandm E2 receptor 4

Prostaglandin E3 receptor 4

Prostaglandm F - FP receptor 4

Prostaglandin 12 receptor 2

Prostaglandm IP receptor 4

Prostaglandin isomerase 6

Prostasin, PRSS8 PRSS8 1

Protease nexm 2 PN2 1

Protein kinase B PRKB

Protein Idnase C, alpha PRKCA 1

Protein S PROS 4

Protoporphyrinogen oxidase PPOX 1

Pterin-4-alpha-carbmolamine PCBD

Pyrroline-5-carboxylate synthetase PYCS 1

Pyruvate carboxylase PC 1

Pyruvate decarboxylase PDHA 1

Pyruvate kinase PKLR 1

Quinoid dihydropteridine reductase QDPR 1

Rathke pouch homeobox, RPX RPX 6

Relaxin Hl RLN1 6

Relaxin H2 RLN2 6

Remn REN 1

Replication factor C RFC2 1

Retinal pigment epithelium specific protein RPE65 3

(65kD)

Retinaldehyde bmding protein 1 RLBP1 ^■ 2

Retinoic acid receptor, alpha RARA 6

Retinoic acid receptor, beta RARB 6

Retinoic acid receptor, gamma RARG 6

Retinoid X receptor, alpha RXRA 6

Retinoid X receptor, beta RXRB 6

Retinoid X receptor, gamma RXRG 6 Retmol bmdmg proteM 1 2

Retmol bindmg protem 2 2

Ribosephosphate pyrophosphokinase 1

RIGUI RIGUI 6

Ryanodine receptor 1, skeletal RYRI 6

S 100 calcium-bmdMg proteM A3 S100A3 5

S100 calcium-binding protem A4 S100 A4 5

S 100 calcium-bmdmg protein A7 S100A7 5

S100 calcium-binding protem A8 S100A8 5

S100 calcium-binding protein A9 S100A9 5

S100 calcium-bmdmg protein B S100B 5

S100 calcium-binding protein P S100P 5

S-AdenosylmetMomne decarboxylase, AMD 1

Salivary amylase, AMY1 2

Secretin SCT 2

Secretin receptor, SCTR SCTR 2

Serine hydroxymethyltiansferase SHMT 1

Serotomn N-acetyltransferase SNAT 1

Serotomn receptor, 5HT1A HTR1A 5

Serotomn receptor, 5HT1B HTR1B 5

Serotomn receptor, 5HT1C HTR1C 5

Serotomn receptor, 5HT1D HTR1D 5

Serotomn receptor, 5HT1E HTR1E 5

Serotomn receptor, 5HT1F HTR1F 5

Serotomn receptor, 5HT2A HTR2A 5

Serotomn receptor, 5HT2B HTR2B 5

Serotomn receptor, 5HT2C HTR2C 5

Serotomn receptor, 5HT3 HTR3 5

Serotomn receptor, 5HT4 HTR4 5

Serotomn receptor, 5HT5 HTR5 5

Serotomn receptor, 5HT6 HTR6 5

Serotomn receptor, 5HT7 HTR7 5

Serum amyloid A SAA 2

Serum amyloid P SAP 2

Sex determimng region Y, SRY SRY 6

Sex hormone bindmg globulm, SHBG 2

Sodium channel, non-voltage gated 1, alpha SCNNIA 5

Sodium Channel, non-voltage gated 1, beta SCNNIB 5

Sodium Channel, non-voltage gated 1, SCNNIG 5 gamma

Sodium channel, voltage-gated, type 1, beta SCN1B 5 polypeptide

Solute carrier family 1 (ammo acid SLC1A6 2 tiansporter), member 6

Solute carrier family 1 (neutral amino acid SLCl A4 2 tiansporter), member 4 Solute carrier family 10 (sodium/bile acid SLC1OAL 2 cotransporter family),member 1

Solute carrier family 10 (sodium/bile acid SLC1OA2 2 cotransporter family),member 2

Solute carrier family 12, member 1 SLC12A1 2

Solute carrier family 12, member 2 SLC12A2 2

Solute carrier family 12, member 3 SLC12A3 2

Solute carder family 14, member 2 SLC14A2 2

Solute carrier family 15 (H+/peptide SLC15A1 2 transporter, intestinal), member 1

Solute carrier family 15 (H+/peptide SLC15A2 2 tiansporter, kidney), member 2

Solute carder family 16 (monocarboxylate SLC16A1 2 transporter), member 1

Solute carrier family 16 (monocarboxylate SLC16A7 2 transporter), member 7

Solute carrier family 17, member 1 SLC17A1 2

Solute carrier family 17, member 2 SLC 17A2 2

Solute carrier family 2 (facilitated glucose SLC2A1 2 transporter), member 1

Solute carrier family 2 (facilitated glucose SLC2A2 2 tiansporter), member 2

Solute carrier family 2 (facilitated glucose SLC2A3 2 transporter), member 3

Solute carrier family 2 (facilitated glucose SLC2A4 2 tiansporter), member 4

Solute carrier family 2 (facilitated glucose SLC2A5 2 tiansporter), member 5

Solute carrier family 20, member 3 SLC2OA3 2

Solute carrier family 21, member 2 SLC21 2

Solute carrier family 21, member 3 SLC21A3 2

Solute carrier fami y 22, member 1 SLC22A1 2

Solute carrier family 22, member 2 SLC22A2 2

Solute carrier family 22, member 5 SLC22A5 2

Solute carrier family 3 (facilitated glucose SLC3A1 2 tiansporter), member 1

Solute carrier family 4 (amon exchanger), SLC4A1 2 member 1

Solute carrier family 4 (amon exchanger), SLC4A2 2 member 2

Solute carrier family 4 (amon exchanger), SLC4A3 2 member 3

Solute carrier family 5 (sodium/glucose SLC5A1 2 transporter), member 1

Solute carrier family 5 (sodium/glucose SLC5A2 2 transporter), member 2

Solute carrier family 5 (sodium/glucose SLC5A5 2 tiansporter), member 5

Solute carrier family 5, member 3 SLC5A3 2

Solute carrier family 6 (GAMMN- SLC6A1 2

AMIΝOBUTYRIC ACID tiansporter), member 1

Solute carrier family 6 (neurotransmitter SLC6A3 2 tiansporter, dopamine), member 3

Solute carrier family 6 (neurotiansmitter SLC6A2 2 transporter, noradrenaline), member 2

Solute carrier family 6 (neurotransmitter SLC6A4 2 tiansporter, serotomn), member 4

Solute carrier family 6, member 10 SLC6A10 2

Solute carrier family 6, member 6 SLC6A6 2

Solute carrier family 6, member 8 SLC6A8 2

Solute carrier family 7(amino acid SLC7A 2 tiansporter), member 1

Solute carrier family 7(amino acid SLC7A2 2 tiansporter), member 2

Solute carrier family 7(amino acid SLC7A7 2 tiansporter), member 7

Solute carrier family 8 (sodium/calcium SLC8A1 2 exchanger), member 1

Somatostatin SST 5

Somatostatin receptor, SSTR1 SSTR1 5

Somatostatin receptor, SSTR2 SSTR2 6

Somatostatin receptor, SSTR3 SSTR3 5

Somatostatin receptor, SSTR4 SSTR4 5

Somatostatin receptor, SSTR5 SSTR5 5

SomatotropMn 6

SorcM SRI 2

SOSI guamne nucleotide exchange factor SOSI 6

Sperm prolamine P 1 PRM1 6

Sperm prolamme P2 PRM2 6

SpMngomyelinase SMPD1 1

SRY-box 10 SOX10 6

SRY-box 11 SOX11 6

SRY-box 3 SOX3 6

SRY-box 4 SOX4 6

SRY-box 9 SOX9 6

Steroid sulphatase STS 1

Steroidogemc acute regulatory protem STAR 2

Substance P 5

SuccMyl CoA synthase 1

Sucrase 1

Sulfonylurea receptor SUR 6

Superoxide dismutase 1 SOD1 1

Superoxide dismutase 3 SOD3 1

Surfeit SURF1 6 T-BOX 1 TBX1 6

T-BOX 3 TBX3 6

TMolase, perioxisomal 1

TMopurine S-methyltransferase TPMT 1

TMombospondin THBS1 6

TMomboxane A synthase 1 TBXAS1 4

TMomboxane A2 TXA2 4

TMomboxane A2 receptor TBXA2R 4

Thymopoietin TMPO 6

ThymosM 4

Thyroglobulm TG 6

Thyroid hormone receptor, alpha THRA 6

Thyroid hormone receptor, beta THRB 6

Thyroid peroxidase TPO 6

Thyroid receptor auxiliary protem TRAP 6

Thyroid-stimulating hormone receptor TSHR 6

Thyroid-stimulating hormone, alpha TSHA 6

Thyroid-stimulating hormone, beta TSHB 6

Thyrotropin releasing hormone TRH 6

Thyrotropin releasing hormone receptor TRHR 6

Thyroxin-binding globulin TBG 2

Transacylase 1

Transcobalamin 2, TCN2 TCN2 2

Transcription factor 1, hepatic TCF1 6

Transcription factor 2, hepatic TCF2 6

Transcription termmation factor, RNA TTF1 6 polymerase 1

Transferrin TF 6

Transferrin receptor TFRC 6

Transforming growth factor, beta 2 TGFB2 6

Transforming growth factor, beta induced TGFBI 6

Transforming growth factor, beta receptor 2 TGFBR2 6

Transketolase TKT 1

Transketolase-like 1 TKTL1 1

Transthyretin TTR 2

Tubby-like protein 1 TULP1 6

Tuberous sclerosis 1 TSC1 6

Tuberous sclerosis 2 TSC2 6

Tyrosinase TYR

Tyrosmase-related protein 1 TYRPI

Tyrosine ammotiansferase TAT

Tyrosine hydroxylase TH

Ubiquitin activating enzyme, El

Ubiquitin proteM ligase E3 A UBE3A

UDP-glucose pyrophosphorylase

UDP-glucuronosyltransferase 1 ugtld, UGT1

UDP-glucuronosyltransferase 2 UGT2 UncouplMg protem 1 2

Uncouplmg protem 3 UCP3 2

Urate oxidase UOX 1

Ureidopropionase 1

Uridme monophosphate Idnase UMPK 4

Uddine monophosphate synthetase UMPS 4

Uridinediphosphate(UDP)-galactose-4- GALE 1 epimerase

Uroporphyrinogen decarboxylase UROD 1

Uteroglobin UGB 2

Vasoactive intestinal polypeptide VIP 5

Vasoactive mtestmal polypeptide receptor VPR 5

Vaso nMbitory peptide 6

Von Hippel-Lindau gene VHL 6

Werner syndrome helicase WRN 6

Wolfram syndrome I gene WFS1 3

Xylito dehydrogenase 1,

Legende fϊir die Spalte Proteinnxnktion:

1 Enzym 2 Transport und Lagerung

3 Struktur 4 Immumtät

5 Nervale Transmission 6 Wachstum und Differenzierung

Tabelle 15 Kopfschmerzen

Liste der Gene HUGO Protein¬

Gensymbol funktion

Ncetylcholmesterase ACHE

Ndenyfate cyclase 1 ADCY1

Adenylate cyclase 2 ADCY2

Adenylate cyclase 3 ADCY3

Adenylate cyclase 4 ADCY4

Adenylate cyclase 5 ADCY5

Adenylate cyclase 6 ADCY6

Adenylate cyclase 7 ADCY7

Adenylate cyclase 8 ADCY8

Adenylate cyclase 9 ADCY9

Adrenergic receptor, alphal ADRA1 5

Adrenergic receptor, a pha2 ADRA2 5

Adrenergic receptor, betal ADRB1 5

Adrenergic receptor, beta2 ADRB2 5

Adrenergic receptor, beta3 ADRB3 5

Angiopoietin 1 ANGPT1 6

Angiopoietin 2 ANGPT2 6

Angiotensin converting enzyme ACE, DCPL 1

Angiotensin receptor 1 AGTR1 2

Angiotensin receptor 2 AGTR2 2

Angiotensinogen AGT 1

ArgMase ARG1 1

Argimne vasopressin AVP 5

Atiial natiiuretic peptide ANP 6

Atiial natriuretic peptide receptor A NPR1 6

Atiial natiiuretic peptide receptor B NPR2 6

Atiial natriuretic peptide receptor C NPR3 6

Calcitomn/Calcitomn gene-related peptide alpha CALCA 5

Calcium channel, voltage-dependent, alpha IF CACNA1F 5 subumt

Calcium Channel, voltage-dependent, Alpha- CACNA1B 5

1B (CACΝL1A5)

Calcium channel, voltage-dependent, Alpha- 1 C CACNA1C 5

Calcium channel, voltage-dependent, Alpha- 1 D CACNA1D 5

Calcium channel, voltage-dependent, Alpha- CACNA1E 5

I E (CACNL1A6)

Calcium channel, voltage-dependent, Alpha-2/delta CACNA2 5

Calcium channel, voltage-dependent, Beta 1 CACNB1 5

Calcium channel, voltage-dependent, Beta 3 CACNB3 5

Calcium channel, voltage-dependent, CACNG2 5

Neuronal, Gamma Calcium channel, voltage-dependent, P/Q CACNA1A type, alpha 1A subimit

Calcium channel, voltage-dependent, T-type 5

CalnexM CANX 6

Cannabinoid receptor CNR1 5

Carbomc anhydrase 3 CA3

Carbomc anhydrase 4 CA4

Carbomc anhydrase, alpha CA1

Carbomc anhydrase, beta CA2

Catechol-o-methyltransferase COMT

Choline acetyltransferase CHAT

Cyclic AMP-dependent protein kinase PKA

Cyclic nucleotide phosphodiesterase IB PDE1B

Cyclic nucleotide phosphodiesterase IBl PDE1B1

Cyclic nucleotide phosphodiesterase 2A3 PDE2A3

Cyclic nucleotide phosphodiesterase 3A PDE3A

Cyclic nucleotide phosphodiesterase 3B PDE3B

Cyclic nucleotide phosphodiesterase 4A PDE4A

Cyclic nucleotide phosphodiesterase 4C PDE4C

Cyclic nucleotide phosphodiesterase 5A PDE5A

Cyclic nucleotide phosphodiesterase 6A PDE6A

Cyclic nucleotide phosphodiesterase 68 PD 6B

Cyclic nucleotide phosphodiesterase 7 PDE7

Cyclic nucleotide phosphodiesterase 8 PDE8

Cyclic nucleotide phosphodiesterase 9A PDE9A

Cyclooxygenase 1 COX1

Cyclooxygenase 2 COX2

CYP11A1 CYP11A1

CYP11B1 CYP11B1

CYP11B2 CYP11B2

CYP17 CYP17

CYP19 CYP19

CYPIAI CYPIAI

CYP1A2 CYP1A2

CYP1B1 CYP1B1

CYP21 CYP21

CYP24 CYP24

CYP27 CYP27

CYP27B1 PDDR

CYP2A1 CYP2A1

CYP2A13 CYP2A13

CYP2A3 CYP2A3

CYP2A6V2 CYP2A6V2

CYP2A7 CYP2A7

CYP2B6 CYP2B6

CYP2C18 CYP2C18

CYP2C19 CYP2C19 CYP2C8 CYP2C8

CYP2C9 CYP2C9

CYP2D6 CYP2D6

CYP2E1 CYP2E1

CYP2F1 CYP2FI

CYP2J2 CYP2J2

CYP3A3 CYP3A3

CYP3A4 CYP3A4

CYP3A5 CYP3A5

CYP3A7 CYP3A7

CYP4A11 CYP4A11

CYP4B1 CYP4B1

CYP4F2 CYP4F2

CYP4F3 CYP4F3

CYP51 CYP51

CYP5A1 CYP5A1

CYP7A CYP7A

CYP8 CYP8

CystatMonase CTH

CystatMone beta synthase CBS

Cytidine deaminase CDA

Cytidine-5-prime-triphosphate synthetase CTPS

CytocMome a

CytocMome c

CytocMome c oxidase, MTCO

CytokMe-suppressive antiinflammatory drug- CSBPl 4 binding proteM 1

Cytokine-suppressive antiinflammatory drug- CSBP2 4 binding protem 2

Dopamine beta hydroxylase DBH 1

Dopamine receptors Dl DRD1 5

Dopamine receptors D2 DRD2 5

Dopamine receptors D3 DRD3 5

Dopamine receptors D4 DRD4 5

Dopamme receptors D5 DRD5 5

Dystoma 9 CSE 3

Endothelin 1 EDN1 5

Endothelin 2 EDN2 5

Endothelm 3 EDN3 5

Endothelin converting enzyme ECEI 5

Endothelin receptor type A EDNRA 5

Endothelm receptor type B EDNRB 5

Enolase ENO1 1

Epidermal growth factor EGF 6

Epidermal growth factor receptor EGFR 6

ErytMopoietin receptor EPOR 4

GlutatMone GSH 2 GlutatMone S-transferase, GSTZI GSTZI 1

Glyceraldehyde-3 -phosphate dehydrogenase, GAPDH GAPDH 1

Glycerol Idnase GK 1

Glycinamide ribonucleotide (GAR) GART 1

Hexosamimdase B HEXB 1

Histamine receptors, Hl 5

Histamine receptors, H2 5

Histamme receptors, H3 5

Hypoxia inducible factor 1 HIF1A 1

Hypoxia Mducible factor 2 1

Insulm INS 6

Insulin receptor INSR 6

Interleukin(IL) 1, alpha IL1A 4

Interleukin(IL) 1, beta IL1B 4

Interleukin(IL) receptor antagomst 1 IL1RN, IL1RA 4

IP3 Idnase 1

Marenostiin MEFV 2

Methylmalonyl-CoA mutase MUT 1

MonoamMe oxidase A MAOA 1

Monoamine oxidase B MAOB 1

Muscarimc receptor, Ml CHRM1 5

Muscarimc receptor, M2 CHRM2 5

Muscarimc receptor, M3 CHRM3 5

Muscarimc receptor, M4 CHRM4 5

Muscarimc receptor, M5 CHRM5 5

Myogemc factor 3 MYF3 6

Myogemc factor 4 MYF4 6

Myogemc factor 5 MYF5 6

NADH dehydrogenase reductase 1

Neurokimn A NKNA 5

Neurokimn B NKNB 5

Neuropeptide Y NPY 5

Neuropeptide Y receptor Yl NPY1R 5

Neuropeptide Y receptor Y2 NPY2R 5

Nitric oxide synthase 1, NOSl NOSl 1

Nitric oxide synthase 2, NOS2 NOS2 1

Nitric oxide synthase 3, NOS3 NOS3 1

Phospho ipase A2, group 10 PLA2G10 1

Phospholipase A2, group IB PLA2G1B 4

Phospholipase A2, group 2A PLA2G2A 4

Phospholipase A2, group 2B PLA2G2B 4

Phospholipase A2, group 4A PLA2G4A 4

Phospholipase A2, group 4C PLA2G4C 4

Phospholipase A2, group 5 PLA2G5 4

Phospholipase A2, group 6 PLA2G6 4

Phospholipase C alpha 4 Phospholipase C beta 4

Phospholipase C delta PLCD1 4

Phospholipase C epsilon 4

Phospholipase C gamma PLCG1 4

Potassium mwardly-rectifying channel Jl KCNJ1 5

Potassium voltage-gated channel El KCNE1 5

Potassium voltage-gated channel Ql KCNQl 5

Pmopiometanocortm POMC 5

RIGUI RIGUI 6

Serotomn receptor, 5HT1 A HTR1A 5

Serotomn receptor, 5HT1B HTR1B 5

Serotomn receptor, 5HT1C HTR1C 5

Serotomn receptor, 5HT1D HTR1D 5

Serotomn receptor, 5HT1E HTR1E 5

Serotomn receptor, 5HT1F HTR1F 5

Serotomn receptor, 5HT2A HTR2A 5

Serotomn receptor, 5HT2B HTR2B 5

Serotomn receptor, 5HT2C HTR2C 5

Serotomn receptor, 5HT3 HTR3 5

Serotonin receptor, 5HT4 HTR4 5

Serotomn receptor, 5HT5 HTR5 5

Serotomn receptor, 5HT6 HTR6 5

Serotomn receptor, 5HT7 HTR7 5

Sodium channel, non-voltage gated 1, alpha SCNNIA 5

Sodium channel, non-voltage gated 1, beta SCNNIB 5

Sodium channel, non-voltage gated 1, gamma SCNNIG 5

Sodium channel, voltage-gated, type 1, beta SCN1B 5 polypeptide

Solute carrier family 5, member 3 SLC5A3 2

Solute carder family 6 (GAMMA- SLC6A1 2

AMINOBUTYRIC ACID tiansporter), member 1

Solute carrier family 6 (neurotiansmitter SLC6A3 tiansporter, dopamine), member 3

Solute carrier family 6 (neurotransmitter SLC6A2 tiansporter, noradrenaline), member 2

Substance P 5

Tyrosine hydroxylase TH 1

UDP-glucuronosyltransferase 1 ugtld, UGT1 1

UDP-glucuronosyltiansferase 2 UGT2 1

Vasoactive intestinal polypeptide VIP 5

Vasoactive Mtestinal polypeptide receptor VIPR 5

Legende für die Spalte Proteinfiinktion:

1 Enzym 2 Transport und Lagerung

3 Struktur 4 Immmiität

5 Nervale Transmission 6 Wachstum und Differenzierung Tabelle 15 sexuelle Fehlfunktionen

Liste der Gene HUGO Protein¬

Gensymbol funktion

11 beta Hydroxysteroid dehydrogenase 2 HSD11B2

Acetylcholinesterase ACHE

Activm 6

Adenylate cyclase 1 ADCY1

Adenylate cyclase 2 ADCY2

Adenylate cyclase 3 ADCY3

Adenylate cyclase 4 ADCY4

Adenylate cyclase 5 ADCY5

Adenylate cyclase 6 ADCY6

Adenylate cyclase 7 ADCY7

Adenylate cyclase 8 ADCY8

Adenylate cyclase 9 ADCY9

Adrenergic receptor, alphal ADRA1 5

Adrenergic receptor, alpha2 ADRA2 5

Adrenergic receptor, betal ADRB1 5

Adrenergic receptor, beta2 ADRB2 5

Adrenergic receptor, beta3 ADRB3 5

Adrenoleukodystrophy gene ALD 1 alpha thalassemia gene ATRX 5

Androgen binding protein ABP 2

Angiopoietin 1 ANGPT1 6

Angiopoietin 2 NNGPT2 6

Angiotensm converting enzyme ACE, DCP1 1

Angiotensin receptor 1 AGTR1 2

Angiotensin receptor 2 AGTR2 2

Angiotensinogen AGT 1

Anti-Mullerian hormone AMH 6

Anti-Mullerian hormone type 2 receptor AMHR2 6

Arginase ARG1 1

Argimne vasopressin AVP 5

Argimne vasopressin receptor 1 A AVPR1A 5

Argimne vasopressin receptor IB AVPR1B 5

Argimne vasopressin receptor 2 AVPR2 5

Atiial natriuretic peptide ANP 6

Atiial natriuretic peptide receptor A NPR1 6

Atiial natriuretic peptide receptor B NPR2 6

Atiial natriuretic peptide receptor C NPR3 6

Autoimmune regulator, AIRE AIRE 4

BCL2-associated X protem BAX 6

Bloom syndrome protem BLM 6 Calcium channel, voltage-dependent, alpha IF CACNA IF 5 subumt

Calcium channel, voltage-dependent, Alpha- CACNA IB 5

1 B (CACNL1A5)

Calcium channel, voltage-dependent, Alpha- 1 C CACNA IC 5

Calcium Channel, voltage-dependent, Alpha- 1 D CACNA ID 5

Calcium Channel, voltage-dependent, Alpha- CACNA 1E 5

1 E (CACNL1A6)

Calcium Channel, voltage-dependent, Alpha- CACNA 2

2/delta

Calcium Channel, voltage-dependent, Beta 1 CACNB1 5

Calcium Channel, voltage-dependent, Beta 3 CACNB3 5

Calcium Channel, voltage-dependent, CACNG2 5

Neuronal, Gamma

Calcium Channel, voltage-dependent, T-type

Carbomc anhydrase 3 CA3

Carbomc anhydrase 4 CA4

Carbomc anhydrase, alpha CA1

Carbomc anhydrase, beta CA2

Catechol-o-methyltransferase COMT

Choline acetyltiansferase CHAT

Cyclic AMP response element modulator CREM

Cyclic AMP-dependent protein kinase PKA

Cyclic nucleotide phosphodiesterase IB PDE1B

Cyclic nucleotide phosphodiesterase IBl PDE1B1

Cyclic nucleotide phosphodiesteease 2A3 PDE2A3

Cyclic nucleotide phosphodiesterase 3 A PDE3A

Cyclic nucleotide phosphodiesterase 3B PDE3B

Cyclic nucleotide phosphodiesterase 4A PDE4A

Cyclic nucleotide phosphodiesterase 4C PDF4C

Cyclic nucleotide phosphodiesterase 5A PDE5A

Cyclic nucteotide phosphodiesterase 6A PDE6A

Cyclic nucleotide phosphodiesterase 6B PDE6B

Cyclic nucleotide phosphodiesterase 7 PDE7

Cyclic nucleotide phosphodiesterase 8 PDF8

Cyclic nucleotide phosphodiesterase 9A PDE9A

Cyclooxygenase 1 COX1

Cyclooxygenase 2 COX2

CYP11A1 CYP11A1

CYP11B1 CYP11B1

CYP11B2 CYP11B2

CYP17 CYP17

CYP19 CYP19

CYPIAI CYPIAI

CYP1A2 CYP1A2

CYP1B1 CYP1B1

CYP21 CYP21 CYP24 CYP24

CYP27 CYP27

CYP27B1 PDDR

CYP2A1 CYP2A1

CYP2A13 CYP2A13

CYP2A3 CYP2A3

CYP2A6V2 CYP2A6V2

CYP2A7 CYP2A7

CYP2B6 CYP2B6

CYP2C18 CYP2C18

CYP2C19 CYP2C19

CYP2C8 CYP2C8

CYP2C9 CYP2C9

CYP2D6 CYP2D6

CYP2E1 CYP2E1

CYP2F1 CYP2F1

CYP2J2 CYP2J2

CYP3A3 CYP3A3

CYP3A4 CYP3A4

CYP3A5 CYP3A5

CYP3A7 CYP3A7

CYP4A11 CYP4A11

CYP4B1 CYP4B1

CYP4F2 CYP4F2

CYP4F3 CYP4F3

CYP51 CYP51

CYP5A1 CYP5A1

CYP7A CYP7A

CYP8 CYP8

CystatMonase CTH

CystatMone beta synthase CBS

Cytidine deaminase CDA

Cytidine-5-prime-triphosphate synthetase CTPS

CytocMome a

CytocMome c

CytocMome c oxidase, MTCO

Cytokine-suppressive antiinflammatory drug- CSBPl 4 bmdmg protein 1

CytokMe-suppressive antiinflammatory drug- CSBP2 4 bmding protem 2

DAXl nuclear receptor DAXl

Deleted in azoospermia DAZ 6

Diaphanous 2 DIAPH2 5

Disrupted meiotic CDNA 1, homolog DMC1 6

Dopam e beta hydroxylase DBH 1

Dopamine receptors Dl DRD1 5

Dopamme receptors D2 DRD2 5 Dopamme receptors D3 DRD3 5

Dopamine receptors D4 DRD4 5

Dopamme receptors D5 DRD5 5

Electron-transfering-flavoprotem alpha ETFA 2

Election-transfering-flavoprotem beta ETFB 2

Electron-tiansferring flavoprotem ETFDH 1 dehydrogenase

Endometrial bleedmg-associated factor EBAF 6

Endothelm 1 EDN1 5

Endothelin 2 EDN2 5

Endothelin 3 EDN3 5

Endothelin converting enzyme ECEI 5

Endothelin receptor type A EDNRA 5

Endothelm receptor type B EDNRB 5

Enolase ENO1 1

Enoyl CoA isomerase 1

Enteroldnase PRSS7, ENTK 1

Epidermal growth factor EGF 6

Epidermal growth factor receptor EGFR 6

Faciogemtal dysplasia FGD1, FGDY 2

Factor XIU A & B F13A & F13B 4

Fancom anemia, complementation group A FANCA 2

Fertilin protem FTNB 6

Flightless-II, DrosopMla homolog of FLII 6

Folic acid receptor FOLR 6

GlutatMone GSH 2

GlutatMone S-transferase, GSTZI GSTZI 1

G yceraldehyde-3-phosphate dehydrogenase, GAPDH 1

GAPDH

Glycerol kinase GK 1

Glycinamide ribonucleotide (GAR) GART 1 tiansformylase

Glycogen phosphorylase PYGL 1

Gonadotiopm releasing hormone GNRH 6

Gonadotropin releasMg hormone receptor GNRHR 6

Guamne nucleotide-bindmg protem, aloha GNA11 5

MMbiting activity polypeptide 1, GNA11

Guamne nucleotide-bmding proteM, alpha GNA12 5 inMbiting activity polypeptide 2, GNA12

Guamne nucleotide-binding protein, alpha GNA13 5 inMbiting activity polypeptide 3, GNA 13

Hexosamimdase B HEXB .1

Holoprosencephaly 1 HPE1 6

Holoprosencephaly 2 HPE2 6

Holoprosencephaly 3 HPE3 6

Holoprosencephaly 4 HPE4 6

Human placental lactogen CSH1 6 InMbm, alpha ΓNHA 6 inMbin, beta A INHBA 6 MbM, beta B INHBB 6

InMbin, beta C NHBC 6

Insulin INS 6

Msulin receptor INSR 6

IP3 Idnase 1

Kallman syndrome gene 1 KALI 6

Lammin 5, alpha 3 LAMA3 6

Lamimn 5, beta 3 LAMB3 6

Lamimn receptor 1 LAMR1 6

Long QT-type 2 potassium Channels LQT2, KCNH2 2

Luteimzmg hormone, beta chain LHB 6

MAD (mothers agaMst decapentaplegic, MADH2 6

DrosopMla) homologue 2

Methylmalonyl-CoA mutase MUT 1

Monoamine oxidase A MAOA 1

Monoamine oxidase B MAOB 1

Muscarimc receptor, Ml CHRM1 5

Muscarimc receptor, M2 CHRM2 5

Muscarimc receptor, M3 CHRM3 5

Muscarimc receptor, M4 CHRM4 5

Muscarmic receptor, M5 CHRM5 5 reductase

Neuropeptide Y NPY 5

Neuropeptide Y receptor Yl NPY1R 5

Neuropeptide Y receptor Y2 NPY2R 5

Nitric oxide synthase 1, NOSl NOSl 1

Nitric oxide synthase 2, NOS2 NOS2 1

Nitiic oxide synthase 3, NOS3 NOS3 1

Oncogene ELK1 ELK1 6

Oncogene ELK2 ELK2 6

Paired box homeotic gene 3 PAX3 6

Patched (DrosopMla) homolog, PTCH PTCH 6

Potassium mwardly-rectifying channel Jl KCNJ1 5

Potassium inwardly-rectifymg channel Jl 1 KCNJ11 5

Potassium voltage-gated channel AI KCNA1 5

Potassium voltage-gated channel El KCNE1 5

Potassium voltage-gated channel Ql KCNQl 5

Potassium voltage-gated channel Q2 KCNQ2 5

Potassium voltage-gated channel Q3 KCNQ3 5 receptor)

Proopiomelanocortin POMC 5

Prostasm, PRSS8 PRSS8 1

Ribosomal proteM S4, X-lMked RPS4X 1

RIGUI RIGUI 6

Serotomn receptor, 5HT1A HTR1A 5 Serotomn receptor, 5HT1B HTR1B 5

Serotomn receptor, 5HT1C HTR1C 5

Serotomn receptor, 5HT1D HTR1D 5

Serotomn receptor, 5HT1E HTR1E 5

Serotomn receptor, 5HT1F HTR1F 5

Serotomn receptor, 5HT2A HTR2A 5

Serotomn receptor, 5HT2B HTR2B 5

Serotomn receptor, 5HT2C HTR2C 5

Serotomn receptor, 5HT3 HTR3 5

Serotomn receptor, 5HT4 HTR4 5

Serotomn receptor, 5HT5 HTR5 5

Serotomn receptor, 5HT6 HTR6 5

Serotomn receptor, 5HT7 HTR7 5

Sodium channel, non-voltage gated 1, alpha SCNNIA 5

Sodium channel, non-voltage gated 1, beta SCNNIB 5

Sodium channel, non-voltage gated 1, gamma SCNNIG 5

Sodium channel, voltage gated, pe V, alpha SCN5A 5 potypeptide

Sodium channel, voltage-gated, type 1, beta SCN1B polypeptide

Solute carrier family 6 (GAMMA- SLC6A1

AMINOBUTYRIC ACID tiansporter), member 1

Solute carrier family 6 (neurotransmitter SLC6A3 tiansporter, dopamine), member 3

Solute carrier family 6 (neurotiansmifter SLC6A2 tiansporter, noradrenaline), member 2

Sperm prolamine Pl PRMl 6

Sperm prolamine P2 PRM2 6

T-BOX 3 TBX3 6

Testis-specific protem Y TSPY 6

Tyrosine hydroxylase TH 1

UDP-glucuronosyltransferase 1 ugtld, UGT1 1

UDP-glucuronosyltiansferase 2 UGT2 1

Vasoactive intestinal polypeptide VIP 5

Vasoactive intestinal polypeptide receptor VIPR 5

Zona pellucida glycoprotein 1 ZPl 6

Zona pellucida glycoprotem 2 ZP2 6

Zona pellucida glycoprotein 3 ZP3 6

Zona pellucida receptor tyrosme Idnase ZRK 6

Zonadhosm ZAN 6,

Legende für die Spalte Proteinfiinktion:

1 Enzym 2 Transport und Lagerung

3 Struktur 4 Immumtät

5 Nervale Transmission 6 Wachstum und Differenzierung Patentansprüche

1. Satz von Oligonukleotiden als Sonden zur Detektion relevanter Variationen der DNA Methylierung m einer Zielgruppe von Genen, dadurch gekennzeichnet, dass die Oligonukleotide zur DNA-Sequenz der Zielgruppe von Genen komplementär sind oder ihnen entsprechen, wie sie nach einer chemischen Behandlung, welche mcht methylierte Cytosme in Uracil umwandelt, vorliegen, wobei die Zielgruppe im wesentlichen Gene umfasst, welche mit einer gesundheitlichen Beeinträchtigung eines Mdividuums in Zusammenhang stehen.

2. Satz von Oligonukleotiden gemäß Ansprach 1, dadurch gekennzeichnet, dass die gesundheitlichen Beeinträchtigungen unerwünschte Arzneimittelwirkungen; Krebs; CNS-FeMfanktionen, Schädigung oder Krankheit; agressive Symptome oder Verhaltenstörungen; kimische, psychologische und soziale Konsequenzen einer Gehirnverletzung; Demenz und/oder assoziierte Syndrome; psychotische Störungen und PersöMichkeitsstörungen; kardiovaskuläre Krankheit, FeMfonktion oder Schädigung; FeMfunktion, Schädigung oder Erkrankung des Gastrointestinaltrakts; Schädigung oder Erkrankung des Atmungssystems; Verletzung, Entzündung, Infektion, Immumtät und/oder Rekonvaleszenz; FeM- fimktion, Schädigung oder Erkrankung des Körpers als Folge einer Abweichung im Entwicklungsprozess, FeMfunktion, Schädigung oder Krankheit der Haut, der Muskeln, des Bindegewebes oder der Knochen; endokrine und metabolische FeMfunktion; Kopfschmerzen oder sexuelle FeMfunktionen sMd.

3. Satz von Oligonukleotiden gemäß einem der Ansprüche 1 oder 2, dadurch gekennzeichnet, dass die mit unerwünschten Arzneimittelwirkungen M Zusammenhang stehenden Gene ausgewäMt smd aus:

Liste der Gene HUGO Protein-

Gensymbol fixnktion

5-Adenosyl homocysteMe hydrolase 1 Acetoacetyl 1-CoA-tMolase ACATl 1 Acetoacetyl 2-CoA-tMolase ACAT2 1 Acetyl CoA acyltiansferase ACAA 1 Acetylcholme receptor, mcotimc, alpha AI CHRNAl 5 Acetylcholme receptor, nicotimc, alpha A2 CHRNA2 5 Acetylcholme receptor, mcotmic, alpha A3 CHRNA3 5

Acetylcholine receptor, mcotmic, alpha A4 CHRNA4 5

Acetylcholme receptor, mcotmic, alpha A5 CHRNA5 5

Acetylcholme receptor, nicotmic, alpha A6 CHRNA6 5

Acetylcholine receptor, mcotmic, alpha A7 CHRNA7 5

Acetylcholine receptor, mcotmic, beta 1 CHRNB1 5

Acetylcholine receptor, mcotimc, beta 2 CHRNB2 5

Acetylcholine receptor, nicotimc, beta 3 CHRNB3 5

Acetylcholine receptor, mcotmic, beta 4 CHRNB4 5

Acetylcholine receptor, mcotmic, epsilon CHRNE 5

Acetylcholine receptor, nicotimc, gamma CHRNG 5

Acetylcholinesterase ACHE 1

Actin, alpha, cardiac ACTC 3

Actin, alpha, skeletal ACTA1 3

Actin, alpha, smooth, aortic ACTA2 3

Actin, beta ACTB 3

Actin, gamma 2 ACTG2 3

Acyl CoA dehydrogenase, short chain ACADS 1

Ademne phosphoribosyltiansferase APRT 2

Adenosme deaminase ADA 1

Adenosine monophosphate deaminase AMPD 1

Adenosme receptor AI ADORA1 5

Adenosine receptor A2A ADORA2A 5

Adenosme receptor A2B ADORA2B 5

Adenosine receptor A3 ADORA3 5

Adenylate cyclase 1 ADCY1

Adenylate cyclase 2 ADCY2

Adenylate cyclase 3 ADCY3

Adenylate cyclase 4 ADCY4

Adenylate cyclase 5 ADCY5

Adenylate cyclase 6 ADCY6

Adenylate cyclase 7 ADCY7

Adenylate cyclase 8 ADCY8

Adenylate cyclase 9 ADCY9

Adenylate kinase AK1

Adenylate transferase

Adenylosuccinate lyase ADSL

ADP-ribosyltiansferase ADPRT

Adrenergic receptor, alphal ADRA1 5

Adrenergic receptor, alpha2 ADRA2 5

Adrenergic receptor, betal ADRB1 5

Adrenergic receptor, beta2 ADRB2 5

Adrenergic receptor, beta3 ADRB3 5

AdrenocorticotropMc hormone (ACTH) ACTHR 6 receptor

Adrenoleukodystiophy gene ALD 1

Albumin, ALB ALB 2 Alkaptonuria gene AKU 6

Alpha I acid glycoprotein AAG, AGP 2

Alpha-1-antitrypsm Pl

Alpha-2-antiplasmm PLI

Alpha-amylase

Alpha-fetoprotem AFP 6

Alpha-glucosidase, neutral AB GANAB

Alpha-glucosidase, neutral C GANG

Aimnomethyltransferase AMT

Aminopeptidase P XPNPEP2

Amyloid beta (A4) precursor protein-binding, APBB1 5

APBB1

Amyloid beta (A4) precursor proteM APP 5

Androgen bmding protein ABP 2

Androgen receptor AR 6

Angiotensin converting enzyme ACE, DCP1 1

Angiotensin receptor 1 AGTR1 2

Angiotensin receptor 2 AGTR2 2

Angiotensinogen AGT 1

Annexin I ANX 1

Apurmic endonuclease APE 1

Argmine vasopressin AVP 5

Argimne vasopressin receptor 1 A AVPR1A 5

Argimne vasopressin receptor IB AVPR1B 5

Argimne vasopressM receptor 2 AVPR2 5

Aryi hydrocarbon receptor AHR 2

Arylsulfatase E ARSE 1

Aspartate transcarbamoylase 1

Ataxia teiangiectasia gene, AT ATM 6

ATP cobalamin adenoxyltiansferase 1

ATP sulphurylase atpsk2 1

ATP/ADP translocase 1

Atriai natriuretic peptide ANP 6

Atiial natriuretic peptide receptor A NPR1 6

Atiial natriuretic peptide receptor B NPR2 6

Atiial natriuretic peptide receptor C NPR3 6

BCL2-associated X protem BAX 6

Benzodiazepme receptor 5

Beta-endorpMn receptor 5

Bile acid coenzyme A: ammo acid N- BAAT 1 acyltiansferase

Bile salt export pump BSEP, PFIC2 2

Bile salt-stimulated lipase CEL 1

Bilimbm UDP-glucuronosyltransferase ^■ 1

Biliverdin reductase 2

Bleomycm hydrolase BLMH 1

Bradykimn receptor Bl 4 Bradykimn receptor B2 4

Breakpomt cluster region BCR 6

Breast cancer 1 BRCAI 6

Breast cancer 2 BRCA2 6

Brush border guanylyl cyclase 1

Butyrylcholmesterase BCHE 1

Ca(2+) transporting ATPase, fast twitch ATP2A1 2

Ca(2+) transportmg ATPase, slow twitch ATP2A2 2

Calcineurin AI CALNA1 4

Calcmeurin A2 CALNA2 4

Calcineurin A3 CALNA3 4

Calcmeurin B

Calcitomn receptor /Calcitomn gene-related CALCR 5 peptide receptor

Calcium channel, voltage-dependent, alpha 1 F CACNA1F 5 subunit

Calcium channel, voltage-dependent, Alpha- CACNA1B 5

1 B (CACNL1A5)

Calcium channel, voltage-dependent, Alpha- CACNA1C 5

1 C

Calcium channel, voltage-dependent, Alpha- CACNA1D 5

1 D

Calcium channel, voltage-dependent, Alpha- CACNA1E 5

1E (CACNLIA6)

Calcium channel, voltage-dependent, Alpha- CACNA2 5

2/delta

Calcium channel, voltage-dependent, Beta 1 CACNBI 5

Calcium channel, voltage-dependent, Beta 3 CACNB3 5

Calcium channel, voltage-dependent, L type, CACNA1S 5 alpha IS subumt

Calcium channel, voltage-dependent, CACNG2 5

Neuronal, Gamma

Calcium channel, voltage-dependent, P/Q CACNA1A 5 type, alpha 1A submiit

Calcium channel, voltage-dependent, T-type 5

Canalicular multispecific orga c amon CMOAT 2 tiansporter

Cannabinoid receptor CNR1 5

Carbamoylphosphate synthetase 1 CPS1

Carbamoylphosphate synthetase 2 CPS2

Carbomc anhydrase 3 CA3

Carbomc anhydrase 4 CA4

Carbomc anhydrase, alpha CA1

Carbomc anhydrase, beta CA2

Carmtine tiansporter protem CDSP, SCD 2

Carnosinase 5

Cartilage-hair hypoplasia gene CHH 5 Catalase CAT 4

Catechol-o-methyltransferase COMT 1

Catemn, beta CTNNBL 6

Cell adhesion molecule, vascular, VCAM VCAMl 6

Cholecystokimn CCK 5

Cholecystokimn B receptor CCKBR 5

Cholesterol ester transfer protem CETP 2

Choline acetyltiansferase CHAT 1

CoA tiansferase 1

Colony-stimulatmg factor 1 CSF1 6

Colony-stimulating factor 2 CSF2 6

Colony-stimulatmg factor 3 CSF3 6

Colony-stimulating factor 3 receptor CSF3R 6

Complex V MTATP6 1

Coproporphyrinogen oxidase CPO 1

Cortico-steroid binding protein 2

Corticosteroid nuclear receptor 4

CorticotropMn-releasing hormone receptor CRHR1 2

Creb binding protein CREBBP 6

Crystallin, alpha A CRYAA 3

Crystallm, alpha B CRYAB 3

Crystallin, beta B2 CRYBB2 3

Crystallin, gamma A CRYGA 3

Cu2+ transporting ATPase alpha polypeptide ATP7A 1

Cu2+ transporting ATPase beta polypeptide ATP7B 1

Cyclic AMP response element binding protem CREB 6

Cyclic AMP response element modulator CREM 6

Cyclic AMP-dependent protem kinase PKA 1

Cyclic nucleotide phosphodiesterase 1 B PDE1B 1

Cyclic nucleotide phosphodiesterase I B l PDEIB1 1

Cyclic nucleotide phosphodiesterase 2A3 PDE2A3 1

Cyclic nucleotide phosphodiesterase 3 A PDE3A 1

Cyclic nucleotide phosphodiesterase 3B PDE3B 1

Cyclic nucleotide phosphodiesterase 4A PDE4A 1

Cyclic nucleotide phosphodiesterase 4C PDE4C 1

Cyclic nucleotide phosphodiesterase 5A PDE5A 1

Cyclic nucleotide phosphodiesterase 6A PDE6A 1

Cyclic nucleotide phosphodiesterase 6B PDE6B 1

Cyclic nucleotide phosphodiesterase 7 PDE7 1

Cyclic nucleotide phosphodiesterase 8 PDE8 1

Cyclic nucleotide phosphodiesterase 9A PDE9A 1

Cyclin F CCNF 6

Cyclin-dependent Idnase inMbitor 1 A (P21, CDKNIA 6 cipi)

Cyclooxygenase 1 COX1 1

Cyclooxygenase 2 COX2 1

CyclopMlin 4 CYPL1A1 CYP11A1

CYPIIBI CYPIIBI

CYPL1B2 CYP11B2

CYPI7 CYP17

CYP19 CYPI9

CYPIAI CYPIAI

CYPIA2 CYP1A2

CYPIBL cyplbl

CYP21 CYP21

CYP24 CYP24

CYP27 CYP27

CYP27B1 PDDR

CYP2A1 CYP2A1

CYP2A13 CYP2A1 3

CYP2A3 CYP2A3

CYP2N6V2 CYP2A6V2

CYP2A7 CYP2A7

CYP2B6 CYP2B6

CYP2CI8 CYP2C18

CYP2CI9 CYP2C19

CYP2C8 CYP2C8

CYP2C9 CYP2C9

CYP2D6 CYP2D6

CYP2E1 CYP2EI

CYP2F1 CYP2FI

CYP2J2 CYP2J2

CYP3A3 CYP3A3

CYP3A4 CYP3A4

CYP3A5 CYP3A5

CYP3A7 CYP3A7

CYP4AI1 GYP4A11

CYP4B1 CYP4B1

CYP4F2 CYP4F2

CYP4F3 CYP4F3

CYP51 CYP51

CYP5A1 CYP5A1

CYP7A CYP7A

CYP8 CYP8

Cystic fibrosis tiansmembrane conductance CFTR regulator, CFTR

Cytidine deammase CDA

Cytidine-5-prime-triphosphate synthetase CTPS

Cytokine-suppressive antiinflammatory drug- CSBPL 4 binding protein I

Cytokine-suppressive antiinflammatory drug- CSBP2 4 binding protein 2

Deoxycytidine Idnase DCK 1 Deoxyuridme tiiphosphatase; dUTPase 1

DHEA sulfotransferase STD 1

Dihydrodiol dehydrogenase 1 DDHL 1

Dihydrofolate reductase DHFR 1

Dihydrolipoamide branched chaM tiansacylase DBT 5

Dihydroiipoamide dehydrogenase DLD 5

Dihydrolipoyl dehydrogenase 2 PDHA 1

Dihydrolipoyl tiansacetylase PDHA 1

Dihydroorotase 1

Dihyropyrimidine dehydrogenase DPYD 1

Disrupted meiotic CDNA 1, homolog DMC1 6

DNA damage bmding protem, DDBI DDBI 3

DNA damage binding protein, DDB2 DDB2 3

DNA directed polymerase, alpha POLA

DNA glycosylases

DNA helicases

DNA Ligase 1 LIGI

DNA methyltransferase DNMT

DNA polymerase 1

DNA polymerase 2

DNA polymerase 3

DNA primase

DNA-damage-inducible transcript 3 DDIT3 3

DNA-dependant RNA polymerase 1

Dopamine receptors Di DRDI 5

Dopamme receptors D2 DRD2 5

Dopamine receptors D3 DRD3 5

Dopamine receptors D4 DRD4 5

Dopamine receptors D5 DRD5 5

ErytMopoietin EPO 4

ErytMopoietin receptor EPOR 4

Estrogen receptor ESR 6

Excision repair complementation group 1 ERCCI protem

Excision repair complementation group 2 ERCC2 protein

Excision repair complementation group 3 ERCC3 protein

Excision repair complementation group 4 ERCC4 protem

Excision repair complementation group 6 ERCC6 proteM

Factor H HFI 4

Factor IX F9 4

Factor VII F7 4

Factor VIII F8 4

Factor X F10 4 Fafty acid bmdMg proteins FABPL 2

Fafty acid bindmg proteins FABP2 2

Fafty acid bMding proteins FABP3 2

Fafty acid bmdmg proteins FABP4 2

Fafty acid bmdMg proteins FABP5 2

Fafty acid bmdmg proteins FABP6 2

Fibroblast growth factor FGF1 6

Flavin-contaimng monooxygenase 1 FMO1 1

Flavin-contaimng monooxygenase 2 FMO2 1

Flavm-contaming monooxygenase 3 FMO3 1

Flavin-contaimng monooxygenase 4 FMO4 1

Folic acid receptor FOLR 6

Follicle stimulatmg hormone receptor FSHR,ODGl 6

Follicle stimulating hormone, FSH FSHB 6

Forkhead transcription factor 10 FKHL10 6

Forkhead tianscription factor 14 FKHL14 6

Forkhead tianscription factor 7 FKHL7 6

G/T mismatch bindmg protein GTBP,MSH6 6

GABA receptor, alpha 1 GABRAI 5

GABA receptor, alpha 2 GABRA2 5

GABA receptor, alpha 3 GABRA3 5

GABA receptor, alpha 4 GABRA4 5

GABA receptor, alpha 5 GABRA5 5

GABA receptor, alpha 6 GABRA6 5

GABA receptor, beta 1 GABRBI 5

GABA receptor, beta 2 GABRB2 5

GABA receptor, beta 3 GABRB3 5

GABA receptor, gamma 1 GABRG1 5

GABA receptor, gamma 2 GABRG2 5

GABA receptor, gamma 3 GABRG3 5

GABA transammase ABAT 1

Gadd45 (growth arrest & DNA-damage-mducible protein) 1

Galactose 1 -phosphate uridyl-tiansferase GALT 1

Gamma-glutamyl carboxylase GGCX 2

Gamma-glutamyltransferase I GGTL 2

Gamma-glutamyltransferase 2 GGT2 2

Gastric inMbitory polypeptide receptor, GIPR GIPR 2

Gastric lipase, LIPF 2

Glucagon receptor GCGR 6

Glucocorticoid receptor GRL 6

Glucosammyl (N-acetyl) transferase 2, 1- GCNT2 1 brancMng enzyme

Glucosidase, acid beta GBA 1

Glutamate decarboxylase, GAD GAD1 1

Glutamate receptor 1 GLUR1 5

Glutamate receptor 2 GLUR2 5

Glutamate receptor 3 GLUR3 5 Glutamate receptor 4 GLUR4 5

Glutamate receptor 5 GLUR5 5

Glutamate receptor 6 GLUR6 5

Glutamate receptor 7 GLUR7 5

Glutamate receptor, ionotropic, NMDA 1 NMDAR1 5

Glutamate receptor, ionotropic, NMDA 2A NMDAR2A 5

Glutamate receptor, ionotropic, NMDA 2B NMDAR2B 5

Glutamate receptor, ionotropic, NMDA 2C NMDAR2C 5

Glutamate receptor, ionotropic, NMDA 2D NMDAR2D 5

Glutamine phosphoribosylpyrophosphate amidotransferase/PRPP amidotransferase 1

GlutatMone GSH 2

GlutatMone peroxidase, GPXL GPXI

GlutatMone peroxidase, GPX2 GPX2

GlutatMone reductase, GSR GSR

GlutatMone S-transferase mu 1, GSTMI GSTMI

GlutatMone S-transferase mu 4, GSTM4

GlutatMone S-transferase theta 1, GSTT1 GSTT1

GlutatMone S-transferase theta 2, GSTT2

GlutatMone S-transferase, GSTP1 GSTP1

GlutatMone S-transferase, GSTZI GSTZI

Glutatiiione synthetase GSS

Glyceraidehyde-3 -phosphate dehydrogenase, GAPDH

GAPDH

Glycinamide ribanucleotide (GAR) GART tiansformylase

Glycme receptor, alpha GLRA2 5

Glycine receptor, beta 5

GlycMe tiansporter GLYT 5

Gonadotropin releasing hormone GNRH 6

Gonadotropin releasing hormone receptor GNRHR 6

Growth arrest-specific homeobox GAX 6

Growth hormone I GHI 6

Growth hormone 2 (placental) GH2 6

Growth hormone receptor GHR 6

Growth hormone releasing hormone (GHRH) GHRH 6

Growth hormone releasmg hormone receptor GHRHR 6

GTP cyclohydrolase I GCH1 6

GTPase-activating protein, GAP RASAI 6

Guamdinoacetate N-methyltransferase GAMT 1

Guamne nucleotide-binding protem, alpha GNA01 5 activating activity polypeptide, GNAO

Guamne nucleotide-binding protein, alpha GNAI1 inMbiting activity polypeptide 1, GNAI1

Guamne nucleotide-bindMg protem, alpha GNAI2 5 inMbiting activity polypeptide 2, GNAI2

Guamne nucleotide-binding protem, alpha GNAI3 5 inMbiting activity polypeptide 3, GNAI3

Guamne nucleotide-bmdmg protem, alpha GNAS1 5 stimulatmg activity polypeptide, GNAS1

Guamne nucleotide-bindmg protem, alpha GNAS2 5 stimulatmg activity polypeptide, GNAS2

Guamne nucleotide-bindmg protein, alpha GNAS3 5 stimulatmg activity polypeptide, GNAS3

Guamne nucleotide-binding protein, alpha GNAS4 5 stimulating activity polypeptide, GNAS4

Guamne nucleotide-bmding protein, alpha GNATI 5 tiansducmg activity polypeptide, GNATI

Guamne nucleotide-binding protein, alpha GNAT2 5 tiansducmg activity polypeptide, GNAT2

Guamne nucleotide-bmding protein, beta GNB3 5 polypeptide 3

Guamne nucleotide-binding protein, gamma GNG5 5 polypeptide 5

Guamne nucleotide-binding protein, GNAQ 5 polypeptide

Guanylate cyclase 2D, membrane (retina- GUCY2D 1 specific)

Guanylate cyclase activator 1 A (retina) GUCALA 1

Guanylate kinase 1

Guanylin GUCA2 2

Guanylyl cyclase 1

H(+), K(+) - ATPase ATP4B 5

Heat shock protein, HSP60 4

Heat shock protein, HSP70 4

Heat shock protein, HSP90 4

Hemopexin HPX 4

Hepatic lipase LIPC 1

Histamine receptors, Hl 5

Histamine receptors, H2 5

Histamine receptors, H3 5

HLH transcription factor HAND1 HAND1 6

HLH tianscription factor HAND2 HAND2 6

HMG-COA lyase HMGCL 1

HMG-COA reductase HMGCR 1

HMG-COA synthase HMGCS2 1

Hormone-sensitive lipase HSL 1

HSSB, replication protein 1

HypoxanthMe-guamne HPRT 1 phosphoribosyltiansferase, HGPRT

Ibonucleoside diphosphate reductase 1

Ikaros gene IKAROS 6

Mosme monophosphate dehydrogenase IMPDH 1

Inosine tiiphosphatase ITPA 1 Inositol monophosphatase IMPAL 5 Msulin INS 6

InsulM receptor INSR 6

Msulm-like growth factor 1 receptor IGFI R 6 InsulM-like growth factor 2 receptor IGF2R 6 Mterferon alpha IFNAL 4 Mterferon beta IFNB 4 Mterferon gamma IFNG 4 Interferon gamma receptor 1 IFNGRL 4 Mterferon gamma receptor 2 IFNGR2 4 Interferon regulatory factor 1 IRF1 4 Mterferon regulatory factor 4 IRF4 4 Mterleukin(IL) 1 receptor IL1R 4 Mterleukin(IL) 1, alpha IL1A 4 Interleukin(IL) 1, beta IL1B 4 Interleukin(IL) 10 IL10 4 lnterleukM(IL) 10 receptor IL10R 4 Mterleukin(IL) II IL11 4 Interleukin(IL) 11 receptor IL11R 4 Mterleukin(IL) 12 IL12 4 Mterleukin(IL) 12 receptor, beta I IL12RB1 4 MterleukM(IL) 13 IL13 4 Mterleukin(IL) 13 receptor IL13R 4 Interleukin(IL) 2 IL2 4 Mterleukin(IL) 2 receptor, alpha IL2RA 4 Mterleukin(IL) 2 receptor, gamma IL2RG 4 Mterleuldn(IL) 3 IL3 4 MterleukMÜL) 3 receptor IL3R 4 MterleukM(IL) 4 IL4 4 Interleukin(IL) 4 receptor IL4R 4 Interleukin(IL) 5 IL5 4 Mterleukin(IL) 5 receptor IL5R 4 Interleukin(IL) 6 IL6 4 Mterleukin(IL) 6 receptor IL6R 4 Mterleukin(IL) 7 IL7 4 MterleukM(IL) 7 receptor IL7R 4 MterleukM(IL) 8 IL8 4 Mterleukin(IL) 8 receptor IL8R 4 Mterleu_dn(IL) 9 IL9 4 InterleukM(IL) 9 receptor IL9R 4 Mterleuldn(IL) receptor antagomst 1 IL1RN, IL1RA 4 Kallikrein 3 KAK3 4 Kinectin KTNL ^• 6

Kinesin, heavy cham KNSLI 6 K esm, light cham KNS2 6 KMinbgen, High molecular weight KNG 4 Leptin LEP 6 Leptin receptor LEPR 6

Leukotriene A4 hydrolase 4

Leukotriene B4 receptor 4

Leukotriene C4 receptor 4

Leukotriene D4/E4 receptor 4

LH/choriogonadotropin (CG) receptor LHCGR 6

LIM homeobox tianscription factor 1, beta LMXL B 6

Lipoprotein lipase LPL 4

Lipoprotein receptor, Low Density LDLR 2

Lipoxygenase 12 (platelets) LOG12 4

Lipoxygenase 5 (leukocytes) 4

Low density lipoprotein receptor-related protem LRP 2 precursor

Lysosomal acid lipase LIPA 1

Malonyl CoA decarboxylase 1

Malonyl CoA transferase 1

Maltase-glucoamylase 1

Mannose bmdmg protem MBP 4

Marmosyl-(alpha-l,6-)-glycoprotein beta-1, 2- MGAT2 2

N-acetylglucosaminyltiansferase

MAPK Idnase 1 MAPKK1; MEK1 6

MAPK kinase 4 MAPKK4; MEK4; 6

SERKI

MAPK Idnase 6 MAPKK6; MEK6 6

MAPKK kinase MAPKKK 6

Matrix Gia protein MGP 6

MEK kinase, MEKK 1

Melanocortin 2 receptor MC2R 2

Melanocortin 4 receptor MC4R 2

MetMomne adenosyltiansferase MAT1A, MAT2A

MetMomne synthase MTR

MetMomne synthase reductase MTRR

Methylguamne-DNA methyltiansferase MGMT

Mevalonate Idnase MVK

MHC Class I: Tapl ABCR, TAP1 4

MHC Class II: Tap2 TAP2,PSF2 4

Microphthalmia-associated transcription factor MITF 6

Mismatch repair gene, PMSLI PMS1 6

Mismatch repair gene, PMSL2 PMS2 6

Mitochondrial trifunctional protein, alpha. HADHA 1 subumt

Mitochondrial trifunctional proteM, beta submiit HADHB 1

Mitogen-activated protein (MAP) kinase MAPK 6

Monoamme oxidase A MAOA 1

Monoamine oxidase B MAOB 1

Multidrug resistance associated protem MRP 6

Muscarimc receptor, Ml CHRMI 5 Muscarmic receptor, M2 CHRM2 5

Muscadmc receptor, M3 CHRM3 5

Muscarimc receptor, M4 CHRM4 5

Muscarmic receptor, M5 CHRM5 5

Na+, K+ ATPase, alpha ATPIAI 6

Na+, K+ ATPase, beta 1 ATPIBI 6

Na+, K+ ATPase, beta 2 ATPIB2 6

Na+, K+ ATPase, beta 3 ATP1B3 6

Na+/H+ exchanger 1 NHFI 2

Na+/H+ exchanger 2 NHE2 2

Na+/H+ exchanger 3 NHE3 2

Na+/H+ exchanger 4 NHE4 2

Na+/H+ exchanger 5 NHE5 2

N-acetylgalactosamme-6-sulfate sulfatase GALNS 1

N-acetylglucosamine-6-sulfatase GNS 1

N-acetylglucosamimdase, alpha NAGLU 1

N-acetyltransferase 1 NATI 1

N-acetyltransferase 2 NAT2 1

N-acyl hydrolase 4

NADH dehydrogenase (ubiquinone) NDUFVL 1

Flavoprotein I

NADH-cytocMome b5 reductase DIA1 1

NepMolitMasis 2 NPHL2 2

NepMonophtMsis 2 NPHP2 2

NepMosis 1 NPHSI 2

NeuroendocrMe convertase 1 NEC1,PCSK1 1

Neurokimn A NKNA 5

Neurokimn B NKNB 5

Neuropeptide Y NPY 5

Neuropeptide Y receptor Yl NPYLR 5

Neuropeptide Y receptor Y2 NPY2R 5

Niacm receptor 6

Niemann-Pick disease protein NPCL 2

Nuclear factor kappa beta NFKB 4

Nuclear factor of activated T cells (NFAT) NFATC 6 complex, cytosolic

Nuclear factor of activated T cells (NFAT) NFATP 6 complex, preexisting component

Nucleoside diphosphate kinase-A NDPKA 1

Oncogene spil 6

Opioid receptor, delta OPRDI 5

Opioid receptor, kappa OPRK1 5

Opioid receptor, mu OPRM1 5

OmitMne tianscarbamoylase OTC, NMEl 1

Osteoprotegerin OPG 6

Otoferlin OTOF 5

Oxytocin OXT 5 Oxytocm receptor OXTR 5

Paired-like homeodomain tianscription factor 2 PITX2 6

Paired-like homeodomain tianscription factor 3 PITX3 6

Paraoxonase PONI PONI 1

Paraoxonase PON2 PON2 1

Paraoxonase PON3 PON3 1

Parathyroid hormone PTH 6

Parathyroid hormone receptor PTHR1 6

Parathyroid hormone related-peptide PTHRP 6

Parathyroid hormone-like hormone PTHLH 6

Parvalbumin PVALB 6

PCNA (proliferating cell nuclear antigen) 1

Peanut-like PNUTLI 4

Peroxisomal membrane protein I Pxmpl 3

Peroxisome biogenesis factor 1 PEX1 2

Peroxisome biogenesis factor 19 PEX19 2

Peroxisome biogenesis factor 6 PEX6 2

Peroxisome biogenesis factor 7 PEX7 2

Peroxisome proliferative activated receptor, PPARA 2 alpha

Peroxisome proliferative activated receptor, PPARG 2 gamma

P-glycoprotein 1 PGY1 2

P-glycoproteM 3 PGY3 2

PhenylethanolamineN-methyltiansferase, PNMT 1

PNMT

Phosphodiesterase 1 / nucleotide PDNPI 6 pyrophosphatase I

Phosphodiesterase I / nucleotide PDNP2 6 pyrophosphatase 2

Phosphodiesterase 1 / nucleotide PDNP3 6 pyrophosphatase 3

Phospholipase A2, group 10 PLA2G 10 4

Phospholipase A2, group IB PLA2G IB 4

Phospholipase A2, group 2A PLA2G2A 4

Phospholipase A2, group 2B PLA2G2B 4

Phospholipase A2, group 4A PLA2G4A 4

Phospholipase A2, group 4C PLA2G4C 4

Phospholipase A2, group 5 PLA2G5 4

Phospholipase A2, group 6 PLA2G6 4

Phospholipase C alpha 4

Phospholipase C beta 4

Phospholipase C delta PLCD1 4

Phospholipase C epsilon 4

Phospholipase C gamma PLCG1 4

Phosphomannomutase-2 PMM2 2

Phosphomannose isomerase- 1, PMI I MPI 2 Phosphoribosyl pyrophosphate synthetase PRPS1 1

Pituitary adenylate cyclase activatmg peptide PACAP 5

Pituitary adenylate cyclase activatmg peptide PACAPLR 5 receptor

Plasminogen activator, Tissue PLAT, TPA 1

Platelet-activating factor receptor PAFR 4

Plectin I PLEC1 2

Polycystin 1 PKD1 2

Polycystin 2 PKD2 2

Porphobilinogen deammase HMBS 1

Potassium channel, calcium-activated, KCNN4 5

Potassium channel, subfamily K, member 1 KCNK1 5

Potassium channel, subfamily K, member 2 KCNK2 5

Potassium channel, subfamily K, member 3 KCNK3 5

Potassium inwardly-rectifying channel Jl KCNJ1 5

Potassium inwardly-rectifying channel JII KCNJ11 5

Potassium voltage-gated channel AI KCNA1 5

Potassium voltage-gated channel EI KCNE1 5

Potassium voltage-gated channel Ql KCNQl 5

Potassium voltage-gated channel Q2 KCNQ2 5

Potassium voltage-gated channel Q3 KCNQ3 5

POU domain, class 1, transcription factor I POUI FI 6

(Piti)

POU domain, class 3, tianscription factor 4 POU3F4 6

POU domain, class 4, tianscription factor 3 POU4F3 6

Pre-B-cell leukemia transcription factor 1 PBxl 6

Preproglucagon GCG, GLP1, GLP2 6 receptor)

Prolactin PRL 6

Prolactin receptor PRLR 6

Proopiomelanocortin POMC 5

Prostacyclin synthase 4

Prostaglandin 15-OH dehydrogenase HGPD, PGDH 4

Prostaglandin D-DP receptor 4

Prostaglandin El receptor 4

Prostaglandm E2 receptor 4

Prostaglandin E3 receptor 4

Prostaglandin F-FP receptor 4

Prostaglandm F2 alpha receptor 4

Prostaglandin IP receptor 4

Prostaglandm-endoperoxidase synthase 2 PTGS2 6

Protease nexm 2 PN2 1

Protein C PROC 4

Protein kinase DNA-activated PRKDC 1

ProteM S PROS1 4

Pterm-4-alpha-carbmolamMe PCBD

Purine nucleoside phosphorylase NP 1 Purinergic receptor P1A1 5

Purinergic receptor P 1 A2 5

Purinergic receptor P1N3 5

Purinergic receptor P2X, 1 P2RX1 5

Purinergic receptor P2X, 2 P2RX2 5

Purinergic receptor P2X, 3 P2RX3 5

Purinergic receptor P2X, 4 P2RX4 5

Purinergic receptor P2X, 5 P2RX5 5

Purinergic receptor P2X, 6 P2RX6 5

Purinergic receptor P2X, 7 P2RX7 5

Purinergic receptor P2Y, 1 P2RY1 5

Purinergic receptor P2 Y, 11 P2RY11 5

Purinergic receptor P2Y, 2 P2RY2 5

RAD51 , DNA repair protein RAD51 6

RAD52, DNA repair proteM RAD52 6

RAD54, DNA repair protein RAD54 6

RAD55, DNA repair protein RAD55 6

RAD57, DNA repair protem RAD57 6

Recombination activating gene 1 RAG1 6

Recombination activating gene 2 RAG2 6

Red cone pigment RCP 3

Replication factor A 1

Replication factor C RFC2 1

Retinaldehyde binding protein 1 RLBPL 2

Retinoic acid receptor, alpha RARA 6

Retinoic acid receptor, beta RARB 6

Retinoic acid receptor, gamma RARG 6

Retinoid X receptor, alpha RXRA 6

Retinoid X receptor, beta RXRB 6

Retinoid X receptor, gamma RG 6

Retinol bmding proteM 1 2

Retinol binding protem 2 2

Retinol binding protein 4 RBP4 2

Ribonucleotide reductase, RRM 1

Ribosephosphate pyrophosphokMase 1

Ribosomal protein L13A RPL13A 6

Ribosomal protein S19 RPS19 1

Ribosomal protem S4, X-linked RPS4X 1

Ribosomal protein S6 Idnase RPS6KA3 1

Ribosomal protein S9 RPS9 6

S-AdenosylmetMomne decarboxylase, AMD 1

Secretin SCT 2

Secretin receptor, SCTR SCTR 2

Serine hydroxymethyltiansferase SHMT 1

SerotonM-N-acetyltransferase SNAT 1

Serotomn receptor, 5HT1A HTR1A 5

Serotomn receptor, 5HT1B HTR1B 5 Serotomn receptor, 5HT1C HTR1C 5

Serotomn receptor, 5HT1D HTR1D 5

Serotomn receptor, 5HT1E HTR1E 5

Serotomn receptor, 5HT1F HTR1F 5

Serotomn receptor, 5HT2A HTR2A 5

Serotomn receptor, 5HT2B HTR2B 5

Serotomn receptor, 5HT2C HTR2C 5

Serotomn receptor, 5HT3 HTR3 5

Serotomn receptor, 5HT4 HTR4 5

Serotomn receptor, 5HT5 HTR5 5

Serotomn receptor, 5HT6 HTR6 5

Serotomn receptor, 5HT7 HTR7 5

Slug protein . 6

Small nuclear ribonucleoprotein polypeptide N SNRPN 3

Sodium channel, non-voltage gated 1, alpha SCNNA 5

Sodium channel, non-voltage gated 1, beta SCNNIB 5

Sodium channel, non-voltage gated 1, gamma SCNNIG 5

Sodium channel, voltage gated, type IV, alpha SCN4A 5 polypeptide

Sodium channel, voltage gated, type V, alpha SCN5A 5 polypeptide

Sodium channel, voltage gated, type 1, beta SCN1B 5 polypeptide

Solute carrier family 1 (amino acid transporter), SLC1A6 2 member 6

Solute carrier family 1 (glial Mgh affimty SLC1A3 2 glutamate transporter), member 3

Solute carrier family 1 (glutamate transporter), SLC1A1 2 member 1

Solute carrier family I (glutamate transporter), SLCIA2 2 member 2

Solute carrier family 1 (neutral amino acid SLCIA4 2 tiansporter), member 4

Solute carrier family 10 (sodium/bile acid SLCIOA1 2 cotransporter family),member 1

Solute carrier family IO (sodium/bile acid SLC1OA2 2 cotransporter family),member 2

Solute carrier family 12, member 1 SLC12A1 2

Solute carrier family 12, member 2 SLC12A2 2

Solute carrier family 12, member 3 SLC12A3 2

Solute carrier family 14, member 2 SLC14A2 2

Solute carrier family 15 (H+/peptide SLC15A1 2 transporter, mtestinal), member 1

Solute carrier family 15 (H+/peptide SLC15A2 2 tiansporter, kidney), member 2

Solute carrier family 16 (monocarboxylate SLC16A1 2 transporter), member 1 Solute carrier family 16 (monocarboxylate SLC16A7 2 tiansporter), member 7

Solute carrier family 17, member 1 SLC17A1 2

Solute carrier family 17, member 2 SLC17A2 2

Solute carrier family 18, member 3 SLC18A3 2

Solute carrier family 19 (folate transporter), SLC19A1 2 member 1

Solute carrier family 2 (facilitated glucose SLC2A1 2 tiansporter), member 1

Solute carrier family 2 (facilitated glucose SLC2A2 2 tiansporter), member 2

Solute carrier family 2 (facilitated glucose SLC2A3 2 tiansporter), member 3

Solute carrier family 2 (facilitated glucose SLC2A4 2 tiansporter), member 4

Solute carrier family 2 (facilitated glucose SLC2A5 2 tiansporter), member 5

Solute carrier family 20, member 1 SLC2OA1 2

Solute carrier family 20, member 2 SLC2OA2 2

Solute carrier family 20, member 3 SLC2OA3 2

Solute carrier family 21, member 2 SLC21A2 2

Solute carrier family 21, member 3 SLC21A3 2

Solute carrier family 22, member 1 SLC22A1 2

Solute carrier family 22, member 2 SLC22A2 2

Solute carrier family 22, member 5 SLC22A5 2

Solute carrier family 25, member 12 SLC25A12 2

Solute carrier family 3 (facilitated glucose SLC3A1 2 tiansporter), member 1

Solute carrier family 4 (amon exchanger), SLC4A1 2 member 1

Solute carrier family 4 (amon exchanger), SLC4A2 2 member 2

Solute carrier family 4 (amon exchanger), SLC4A3 2 member 3

Solute carrier family 5 (sodium/glucose SLC5A1 2 tiansporter), member 1

Solute carrier family 5 (sodium/glucose SLC5A2 2 tiansporter), member 2

Solute carrier family 5 (sodium/glucose SLC5A5 2 transporter), member 5

Solute carrier family 5, member 3 SLC5A3 2

Solute carrier family 6 (GAMMA- SLC6A1 2

AMINOBUTYRIC ACID transporter), member 1

Solute carrier family 6 (neurotiansmitter SLC6A3 2 transporter, dopamine), member 3

Solute carrier family 6 (neurotiansmitter SLC6A2 2 tiansporter, noradrenalme), member 2 Solute carrier family 6 (neurotiansmitter SLC6A4 2 transporter, serotomn), member 4

Solute carrier family 6, member 10 SLC6A10 2

Solute carrier family 6, member 6 SLC6A6 2

Solute carrier family 6, member 8 SLC6A8 2

Solute carrier family 7(amino acid tiansporter), SLC7A1 2 member 1

Solute carrier family 7(amino acid tiansporter), SLC7A2 2 member 2

Solute carrier family 7(amino acid transporter), SLC7A7 2 member 7

Solute carrier family 8 (sodium/calcium SLC8A1 2 exchanger), member 1

Somatostatin SST 5

Somatostatin receptor, SSTR1 SSTR1 5

Somatostatin receptor, SSTR2 SSTR2 6

Somatostatin receptor, SSTR3 SSTR3 5

Somatostatin receptor, SSTR4 SSTR4 5

Somatostatin receptor, SSTR5 SSTR5 5

Sorcin SRI 2

SOSI guamne nucleotide exchange factor sosi 6

Steroid 5 alpha reductase 1 SRD5AI 1

Steroid 5 alpha reductase 2 SRD5A2 1

Steroid hormone receptor responsive DNA 6 elements

Sterol carrier protem 2 SCP2 2

Succmic semi-aldehyde dehydrogenase SSADH 1

Sucrase 1

Sulfonylurea receptor SUR 6

Synaptic vesicle amme transporter SVAT 5

Tachykimn receptor, NK1R TACR1 5

Tachykimn receptor, NK2R TACR2 5

Tachykimn receptor, NK3R TACR3 5

Terminal deoxynucleotidyltiansferase TDT 4

TMopurine-S-methyltransferase TPMT 1

TMombopoietin THPO 6

TMomboxane A synthase I TBXASI 4

TMomboxane A2 TXA2 4

TMomboxane A2 receptor TBXA2R 4

Thymidylate synthase TYMS 1

Thymopoietin TMPO 6

Thyroid hormone receptor, beta THRB 6

Thyroid-stimulating hormone receptor TSHR 6

Thyroid-stimulating hormone, alpha TSHA 6

Thyroid-stimulating hormone, beta TSHB 6

Topoisomerase I 1

Topoisomerase II 1 Transcription factor 1, hepatic TCF1 6

Transcription factor 2, hepatic TCF2 6

Transcription factor 3 TCF3 6

Transcription factor bindMg to IGHM enhancer TFE3 6

3

Transcription factor, TUPLE1 TUPLE1 5

Transcription termmation factor, RNA TTF1 6 polymerase 1

Transcription termination factor, RNA TTF2 6 polymerase 2

Transcription termination factor, RNA TTF3 6 polymerase 3

Transferrin TF 6

Transferrin receptor TFRC 6

Transthyretin TTR 2

Tubulin 3

Tumour necrosis factor (TNF) receptor TRAF1 4 associated factor I

Tumour necrosis factor (TNF) receptor TRAF2 4 associated factor 2

Tumour necrosis factor (TNF) receptor TRAF3 4 associated factor 3

Tumour necrosis factor (TNF) receptor TRAF4 4 associated factor 4

Tumour necrosis factor (TNF) receptor TRAF5 4 associated factor 5

Tumour necrosis factor (TNF) receptor TRAF6 4 associated factor 6

Tumour necrosis factor alpha TNFA 4

Tumour necrosis factor alpha receptor TNF AR 4

Tumour necrosis factor beta TNFB 4

Tumour necrosis factor beta receptor TNFBR 4

Tumour protem p53 TP53,P53 6

Tumour protein p63 TP63 6

Tumour Suppressor gene DRA DRA 4

Ubiquitin 6

Ubiquitin activating enzyme, El 1

Ubiquitin B UBB 6

Ubiquitin C UBC 6

Ubiquitin carboxyl-terminal esterase Ll UCHL1 6

Ubiquitin protem ligase E3 A UBE3A 1

UDP-glucose pyrophosphorylase 1

UDP-glucuronosyltiansferase 1 ugtld, UGTL 1

UDP-glucuronosyltiansferase 2 UGT2 1

Uncoupling protem 1 2

Uncouplmg protein 3 UCP3 2

Uridine monophosphate Idnase UMPK 4 UridMe manophosphate synthetase UMPS 4

UridMediphosphate(UDP)-galactose-4- GALE 1 epimerase

Vimentin VIM 4

Vitamm B12-bmding (R) protem 6

Vitamm D receptor VDR 6

XantMne dehydrogenase XDH

Xeroderma pigmentosum, complementation XPA group A

Xeroderma pigmentosum, complementation XPB group B

Xeroderma pigmentosum, complementation XPC group C

Xeroderma pigmentosum, complementation group D

Xeroderma pigmentosum, complementation group E

Xeroderma pigmentosum, complementation XPF group F

Xeroderma pigmentosum, complementation ERCC5 group G

X-ray repair gene XRCC9 6

Xylitol dehydrogenase

YY1 tianscription factor YY1 6

dass die mit Krebs in Zusammenhang stehenden Gene ausgewäMt sind aus:

Liste der Gene HUGO Protein¬

Gensymbol funktion

Absent in melanoma 1 gene AIM1 6

Actin, alpha, cardiac ACTC 3

Actin, alpha, skeletal ACTA1 3

Actin, alpha, smooth, aortic ACTA2 3

Activin 6

Activin A receptor, type 2B ACVR2B 6

Activin A receptor, type 2-like kMase 1 ACVRL1 6

Adenomatous polyposis coli tumour supressor APC 6 gene

Adenosine deamMase ADA 1

Adenosme receptor AI ADORA1 5

Adenosme receptor A2A ADORA2A 5

Adenosme receptor A2B ADORA2B 5

Adenosine receptor A3 ADORA3 5

Adenyl cyclase 5

Adenylate cyclase 1 ADCY1 1 Adeny ate cyclase 2 ADCY2

Adenylate cyclase 3 ADCY3

Adenylate cyclase 4 ADCY4

Adenylate cyclase 5 ADCY5

Adenylate cyclase 6 ADCY6

Adenylate cyclase 7 ADCY7

Adenylate cyclase 8 ADCY8

Adenylate cyclase 9 ADCY9

Adrenergic receptor, alphal ADRA1 5

Adrenergic receptor, alpha2 ADRA2 5

Adrenergic receptor, betal ADRB1 5

Adrenergic receptor, beta2 ADRB2 5

Adrenergic receptor, beta3 ADRB3 5

AdrenocorticotiopMc hormone (ACTH) ACTHR 6 receptor

Albumin, ALB ALB 2

Alcohol dehydrogenase 3 ADH3

Aidehyde dehydrogenase 1 ALDH1

Aidehyde dehydrogenase 10 ALDH10

Aidehyde dehydrogenase 2 ALDH2

Aldehyde dehydrogenase 5 ALDH5

Aldehyde dehydrogenase 6 ALDH6

Aldehyde dehydrogenase 7 ALDH7

Aldosterone receptor MLR 6 alpha tectorin TECTA 6 alphal -antitrypsm Pl 1 alpha-actinm 2 ACTN2 6 alpha-actimn 3 ACTN3 6

Alpha-fetoprotem AFP 6 alpha-synuclein SNCA 5

AmpMregulin AREG 6

Amyloid beta A4 precursor protein APP 5

Amyloid beta A4 precursor-like protein APLP 5

Androgen receptor AR 6

Angiopoietin 1 ANGPT1 6

Angiopoietin 2 ANGPT2 6

Angiotensin converting enzyme ACE, DCP1 1

Angiotensm receptor 1 AGTR1 2

Angiotensin receptor 2 AGTR2 2

Angiotensmogen AGT 1

Annexm 1 ANX 1 4

Antidiuretic hormone receptor ADHR 2

Antiüirombin III AT3 1

AP-2, alpha TFAP2A 6

AP-2, beta TFAP2B 6

AP-2, gamma TFAP2C 6

Apaf-1 3 Apoptosis antigen 1 APT1 4

Apoptosis antigen ligand 1 APT1LG 1 4

Apoptosis-mducmg factor AIF 4

Apurimc endonuclease APE 1

Argimne vasopressin AVP 5

Argmosuccmate synthetase ASS 1

Aryi hydrocarbon receptor AHR 2

Aryi hydrocarbon receptor nuclear tianslocator ARNT 2

Asparagme synthetase AS 1

Aspartate receptor 5

Ataxia telangiectasia complementation group D ATD, ATDC 6

Ataxia telangiectasia gene, AT ATM 6

ATP cobalamM adenoxyltransferase 1

ATP sulphurylase atpsk2 1

ATP-binding cassette transporter 7 ABC7 4

Atiial natriuretic peptide ANP 6

Atiial natiiuretic peptide receptor A NPR1 6

Atriai natriuretic peptide receptor B NPR2 6

Atiial natiiuretic peptide receptor C NPR3 6

AtropMn 1 DRPLA 6

Bagpipe homeobox, drosopMla homolog of, 1 BAPX1 6

B-cell CLL/lymphoma 1 BCL1 4

B-cell CLL/lymphoma 10 BCL10 4

B-cell CLL/lymphoma 3 BCL3 4

B-cell CLUlymphoma 4 BCL4 4

B-cell CLL/lymphoma 5 BCL5 4

B-cell CLU[ymphoma 6 BCL6 4

B-cell CLL/lymphoma 7 BCL7 4

B-cell CLUlymphoma 8 BCL8 4

B-cell CLL/lymphoma 9 BCL9 4

BCL2-associated X protein BAX 6

BCL2-related protein AI BCL2A1 6

Beckwith-Wiedemann region 1 A BWR1A 6

Benzodiazepine receptor 5 beta 2 microglobulm B2M 4 beta-endorpMn receptor 5 beta-synuclein SNCB 5

Bleomycin hydrolase BLMH 1

Bone morphogenetic protein, BMP1 BMP1 6

Bone morphogenetic protein, BMP2 BMP2 6

Bone morphogenetic proteM, BMP3 BMP3 6

Bone morphogenetic proteM, BMP4 BMP4 6

Bone morphogenetic proteM, BMP5 BMP5 6

Bone morphogenetic proteM, BMP6 BMP6 6

Bone morphogenetic proteM, BMP7 BMP7 6

Bone morphogenetic protem, BMP8 BMP8 6

BradykMM receptor Bl 4 Bradykimn receptor B2 4

Brain derived neurotropMc factor BDNF 6

Brain derived neurotrophic factor (BDNF) BDNFR 6 receptor

Branched chaM ammotiansferase 1, cytosolic BCAT1 1

Branched chain amMotiansferase 2, BCAT2 1 mitochondrial

BRC AI -associated RING domam gene 1 BARD1 6

Breakpoint cluster region BCR 6

Breast cancer 1 BRCA1 6

Breast cancer 2 BRCA2 6

Breast cancer, ductal, 1 BRCD1 6

Breast cancer, ductal, 2 BRCD2 6

Bmton agammaglobuhnaemia tyrosine kinase BTK 6

Cl inhibitor 1

Cadherin E CDH1 6

Cadherin EP 6

Cadherin N CDH2 6

Cadherin P CDH3 6

Calbindin I CALBI 6

Calbindin D9K- CALB3 6

Calcitomn receptor /Calcitomn gene-related CALCR 5 peptide receptor

Calcitomn/Calcitomn gene-related peptide CALCA 5 alpha

Calcium channel, voltage-dependent, alpha 1 F CACNA1F 5 subumt

Calcium channel, voltage-dependent, Alpha- CACNA1B 5

1B (CACNL1A5)

Calcium channel, voltage-dependent, Alpha- CACNA1C 5 IC Calcium channel, voltage-dependent, Alpha- CACNA1D 5

1 D

Calcium channel, voltage-dependent, Alpha- CACNA1E 5

1 E (CACNL1A6)

Calcium channel, voltage-dependent, Alpha- CACNA2 5

2/detta

Calcium channel, voltage-dependent, Beta 1 CACNB1 5

Calcium channel, voltage-dependent, Beta 3 CACNB3 5

Calcium channel, voltage-dependent, L type, CACNA1S 5 alpha IS subimit

Calcium channel, voltage-dependent, CACNG2 5

Neuronal, Gamma

Calcium channel, voltage-dependent, P/Q CACNA1A 5 type, alpha 1A subimit

Calcium channel, voltage-dependent, T-type 5

Calmodulin 1 CALM1 6 CalmodulM 2 CALM2 6

Calmodulin 3 CALM3 6

Calmodulm-dependant protem Idnase 11 CAMK2A 6

CaMexm CANX 6

Carbomc anhydrase 3 CA3 1

Carbomc anhydrase 4 CA4 1

Carbomc anhydrase, alpha CA1 1

Carbomc anhydrase, beta CA2 1

Cardiac-specific homeobox, CSX CSX 6

Cartilage-hair hypoplasia gene CHH 5

Caspase 1 CASP1 6

Caspase 10 C ASP 10 6

Caspase 2 CASP2 6

Caspase 3 CASP3 6

Caspase 4 CASP4 6

Caspase 5 CASP5 6

Caspase 6 CASP6 6

Caspase 7 CASP7 6

Caspase 8 CASP8 6

Caspase 9 CASP9 6

Catemn, beta CTNNB1 6

CD1 CD1 4

CD10 CD10 4

CD4 CD4 4

CEA 6

Cell adhesion molecule, mtercellular, ICAM ICAM1 6

Cell adhesion molecule, leukocyte-endothelial, LECAMl 6

LECAM (CD62)

Cell adhesion molecule, liver, LCAM LCAM 6

Cell adhesion molecule, neural, NCAMl NCAMl 6

Cell adhesion molecule, neural, NCAM2 NCAM2 6

Cell adhesion molecule, platelet-endothelial, PECAMl 6

PECAM

Cell adhesion molecule, vascular, VCAM VCAMl 6 c-erbBl ERBB1 6 c-erbB2 ERBB2 6 c-erbB3 ERBB3 6 c-erbB4 ERB64 6

Ceruloplasmm precursor CP 1

Chemokine receptor CXCRI CXCRI 4

Chemokine receptor CXCR2 CXCR2 4

Cholecystokimn CCK 5

Cholecystokimn B receptor CCKBR 5

Ciliary neurotropMc factor (CNTF) CNTF 6

Ciliary neurotropMc factor (CNTF) receptor CNTFR 6 c-kit receptor tyrosme kinase 6

Clathrin 2 Clusterin CLU 6

Collagen IV alpha 4 COL4A4 3

Collagen IV alpha 5 COL4A5 3

Collagen IV alpha 6 COL4A6 3

Colony-stimulating factor 1 CSF1 6

Colony-stimulating factor 1 receptor CSF1R 6

Colony-stimulating factor 2 CSF2 6

Colony-stimulating factor 2 alpha receptor CSF2RA 6

Colony-stimulatmg factor 2 beta receptor CSF2RB 6

Colony-stimulating factor 3 CSF3 6

Colony-stimulating factor 3 receptor CSF3R 6

Complement component Cl Mbitor C1NH 4

Complement component Clqa CIQA 4

Complement component Clqb CLQB 4

Complement component Clqg CLQG 4

Complement component Clr CIR 4

Complement component Cls C1S 4

Complement component C2 C2 4

Complement component C3 C3 4

Complement component C4A C4A 4

Complement component C4B C4B 4

Complement component C5 C5 4

Complement component C6 C6 4

Complement component C7 C7 4

Complement component C8 C8B 4

Complement component C9 C9 1

Complex III 1

Core-binding factor, alpha I CBFA1 6

Core-bindmg factor, alpha 2 CBFA2 6

Core-bmding factor, beta CBFB 6

CorticotropMn-releasing hormone CRH 2

CorticotropMn-releasing hormone receptor CRHR1 2 c-src tyrosine kinase CSK 6

Cyclic AMP-dependent protein kinase PKA 1

Cyclin A CCNA 6

Cyclin B CCNB 6

Cyclin C CCNC 6

Cyclin D CCND1 6

CyclM E CCNE 6

Cyclin F CCNF 6

CyclM-dependent Idnase 1 CDK1 6

CyclM-dependent kinase 10 CDKI O 6

Cyclm-dependent Idnase 2 CDK2 6

Cyclin-dependent kinase 3 CDK3 6

Cyclin-dependent kinase 4 CDK4 6

Cyclin-dependent Idnase 5 CDK5 6

CyclM-dependent kinase 6 CDK6 6 Cyclm-dependent Idnase 7 CDK7 6

Cyclin-dependent kinase 8 CDK8 6

Cyclin-dependent kinase 9 CDK9 6

Cyclin-dependent Idnase MMbitor 1A (P21, CDKN1A 6

CIPI)

CyclM-dependent kMase inMbitor I B (P27, CDKN1B 6

KIP1)

Cyclin-dependent kMase MMbitor IC (P57, CDKN1C 6

KIP2)

Cyclin-dependent kinase inMbitor 2A (p 1 6) CDKN2A 6

Cyclin-dependent Idnase inMbitor 3 CDKN3 6

Cyclooxygenase I COX1

Cyclooxygenase 2 COX2

CYP11A1 CYP11A1

CYP11B1 CYP11B1

CYP11B2 CYP11B2

CYP17 CYP17

CYP19 CYP19

CYPIAI CYPIAI

CYP1A2 CYP1A2

CYP1B1 CYP1B1

CYP21 CYP21

GYP24 CYP24

CYP27 CYP27

CYP27B1 PDDR

CYP2A1 CYP2A1

CYP2A13 CYP2A13

CYP2A3 CYP2A3

CYP2A6V2 CYP2A6V2

CYP2A7 CYP2A7

CYP2B6 CYP2B6

CYP2C18 CYP2C18

CYP2C19 CYP2C19

CYP2C8 CYP2C8

CYP2C9 CYP2C9

CYP2D6 CYP2D6

CYP2E1 CYP2E1

CYP2F1 CYP2F1

CYP2J2 CYP2J2

CYP3A3 CYP3A3

CYP3A4 CYP3A4

CYP3A5 CYP3A5

CYP3A7 CYP3A7

CYP4A11 CYP4A11

CYP4B1 CYP4B1

CYP4F2 CYP4F2

CYP4F3 CYP4F3 GYP51 CYP51 1

CYP5A1 CYP5A1 1

CYP7A CYP7A 1

CYP8 CYP8 1

CystatMonase CTH 1

Cystatiiione beta synthase CBS 1

Cystic fibrosis transmembrane conductance CFTR 5 regulator, CFTR

Cytidme deaminase CDA 1

Cytidine-5-prime-tiiphosphate synthetase CTPS 1

CytocMome a 1

CytocMome c 1

CytocMome c oxidase, MTCO 1

CytokMe-suppressive antiinflammatory drug- CSBPl 4 bmding protein 1

Cytokine-suppressive antiinflammatory drug- CSBP2 4 binding protein 2

Defender against cell death 1 DADl 6

Deleted m colorectal carcinoma DCC 6

Deleted in malignant brain tumours 1 DMBTl 6

Deoxycytidine Idnase DCK

Deoxyuridine tiiphosphatase; dUTPase

Desert hedgehog, dhh

Dihydrofolate reductase DHFR

Dihydrolipoyl dehydrogenase

Dihyropyrimidine dehydrogenase DPYD

DM-Kinase DMPK

DNA damage binding protein, DDBI DDBI

DNA damage binding protein, DDB2 DDB2

DNA directed polymerase, alpha POLA

DNA glycosylases

DNA helicases

DNA Ligase 1 LIG1

DNA methyltransferase DNMT

DNA polymerase 1

DNA polymerase 2

DNA polymerase 3

DNA primase

DNA-damage-inducible transcript 3 DDIT3

DNA-dependant RNA polymerase

DOPA decarboxylase DDC

Dopamine receptors Dl DRD1 5

Dopamine receptors D2 DRD2 5

Dopamme receptors D3 DRD3 5

Dopamme receptors D4 DRD4 5

Dopamme receptors D5 DRD5 5

Dynamin DNM1 6 DynorphM receptor 5

Dysfedin DYS,DYSF 1

Dyskerin DKC1 3

EB1 6

Endoglm ENG 3

Endothelin 1 EDN1 5

Endothelm 2 EDN2 5

Endothelin 3 EDN3 5

Endothelin converting enzyme ECE 5

Endothelin receptor type A EDNRA 5

Endothelin receptor type B EDNRB 5

Enolase EN01 1

Ephrin receptor tyrosine kinase A EPHA 6

EpMM receptor tyrosme kMase B EPHB 6

Epide mal growth factor EGF 6

Epidermal growth factor receptor EGFR 6

Estrogen receptor ESR 6

Eukaryotic initiation tianslation factor EIF4E 6

EWS RNA-binding protein EWSR1 6

Excision repair complementation group 1 ERCCI proteM

Excision repair complementation group 2 ERCC2 protein

Excision repair complementation group 2 ERCC3 protein

Excision repair complementation group 4 ERCC4 protein

Excision repair complementation group 6 ERCC6 protein

Exostosin 1 EXT1 3

Exostosin 2 EXT2 3

FADH dehydrogenase 1

Fancom anemia, complementation group C FANCC 2

Fancom anemia, complementation group D FANCD 2

Fc fragment of IgG, Mgh affimty IA, receptor for FCGRL A 6

Fc fragment of IgG, low affimty Ila, receptor for FCGR2A 6

(CD32)

Fc fragment of IgG, low affmity lila, receptor for FCGR3A

(CD 16)

Fenochelatase FECH 1

Fibrillin 1 FBN1 6

Fibroblast growth factor FGF1 6

Fibroblast growth factor receptor 1 FGFR1 6

Fibroblast growth factor receptor 2 FGFR2 6

Fibroblast growth factor receptor 3 FGFR3 6

Fibronectin precursor FN1 6

Folic acid receptor FOLR 6 Follicle stimulating hormone receptor FSHR,ODGl 6

Follicle stimulatmg hormone, FSH FSHB 6

FoUicular lymphoma variant tianslocation 1 FVT1 4

Forkhead rhabdomyosarcoma gene FKHR 6

Forkhead tianscription factor 14 FKHL14 6

Forkhead transcription factor 7 FKHL7 6

Fucosyltransferase 2 FUT2 2

Fucosyltransferase 3 FUT3 2

GIT mismatch bindmg protein GTBP,MSH6 6

GABA receptor, alpha 1 GABRA1 5

GABA receptor, alpha 2 GABRA2 5

GABA receptor, alpha 3 GABRA3 5

GABA receptor, alpha 4 GABRA4 5

GABA receptor, alpha 5 GABRA5 5

GABA receptor, alpha 6 GABRA6 5

GABA receptor, beta 1 GABRB1 5

GABA receptor, beta 2 GABRB2 5

GABA receptor, beta 3 GABRB3 5

GABA receptor, gamma 1 GABRG1 5

GABA receptor, gamma 2 GABRG2 5

GABA receptor, gamma 3 GABRG3 5

Gadd45 (growth arrest & DNA-damage-inducible proteM) 1

Galactosyltransferase 1 GT1 6

Galactosyltransferase, alpha 1,3 GGTA1 6

Galactosyltransferase, beta 3 B3GALT 6

Gastrin GAS 6

Gastrin releasmg peptide GRP 2

Glioma cMoride ion channel, GCC 6

Glucagon receptor GCGR 6

Glucagon synthase 2

Glucocorticoid receptor GRL 6

Glutamate receptor 1 GLUR1 5

Glutamate receptor 2 GLUR2 5

Glutamate receptor 3 GLUR3 5

Glutamate receptor 4 GLUR4 5

Glutamate receptor 5 GLUR5 5

Glutamate receptor 6 GLUR6 5

Glutamate receptor 7 GLUR7 5

Glutamate receptor, ionotropic, NMDA 1 NMDAR1 5

Glutamate receptor, ionotropic, NMDA 2A NMDAR2A 5

Glutamate receptor, ionotropic, NMDA 2B NMDAR2B 5

Glutamate receptor, ionotropic, NMDA 2C NMDAR2C 5

Glutamate receptor, ionotropic, NMDA 2D NMDAR2D 5

GlutatMone GSH 2

GlutatMone S-transferase mu 1, GSTMI GSTMI 1

GlutatMone S-transferase theta 1, GSTT1 GSTT1 1

GlutatMone S-transferase, GSTZI GSTZI 1 Glyceraldehyde-3 -phosphate dehydrogenase, GAPDH

GAPDH

Glycerol kMase GK 1

Glycmamide ribonucleotide (GAR) GART 1 transformylase

GlycMe receptor, alpha GLRA2 5

Glycme receptor, beta 5

Glycine tiansporter GLYT 5

Glypican 3 GPC3, SDYS 6

Gonadotropin releasmg hormone GNRH 6

Gonadotropm releasing hormone receptor GNRHR 6

Growth factor receptor-bound protein 2 GRB2 6

Growth hormone 1 GH1 6

Growth hormone 2 (placental) GH2 6

Growth hormone receptor GHR 6

Growth hormone releasing hormone (GHRH) GHRH 6

Growth hormone releasing hormone receptor GHRHR 6

Growth/differentiation factor 5 GDF5 6

Growth-regulated protein precursor, GRO GRO 4

GTPase-activating protein, GAP RASA1 6

Guamne nucleotide-bindmg protein, alpha GNAI1 5 inMbiting activity polypeptide 1, GNA11

Guamne nucleotide-bMdmg protein, alpha GNAI2 5 inMbiting activity polypeptide 2, GNA12

Guamne nucleotide-bMdmg protein, alpha GNAI3 5 inMbiting activity polypeptide 3, GNA13

Guamne nuclootide-bindmg protein, alpha GNAS1 5 stimulating activity polypeptide, GNAS1

Guamne nucleotide-binding protein, alpha GNAS2 5 stimulating activity polypeptide, GNAS2

Guamne nucleotide-binding protein, alpha GNAS3 5 stimulating activity polypeptide, GNAS3

Guamne nucleotide-bmdmg protein, alpha GNAS4 5 stimulating activity polypeptide, GNAS4

Guamne nucleotide-bindmg protein, q GNAQ 5 polypeptide

Guanylate kinase 1

H(+), K(+) - ATPase ATP4B 5

Hairless HR 6

Heia tumor suppression gene HTS1 6

Heparin bindmg epidermal growth factor HBEGF 6

Hepatitis 8 virus Mtegration site 1 HVBS1 4

Hepatitis B virus Mtegration site 2 HVBS6 4

High mobility group protein C HMGIC 6

High mobility group protem Y HMGIY 6

Histamine receptors, Hl 5

Histamine receptors, H2 5 Histamine receptors, H3 5

HLH tianscription factor HAND1 HAND1 6

HLH tianscription factor HAND2 HAND2 6

HMG-CoA reductase HMGCR 1

HMG-CoA synthase HMGCS2 1

Homeobox (HOX) gene AI 3 HOXA13 6

Homeobox 11 HOX11 6

Homeobox HB24 HLX1 6

Homogentisate 1,2 dioxygenase HGD 1

Hormone-sensitive lipase HSL 1

HSSB, replication protein 1

Human placental lactogen CSH1 6 bonucleoside diphosphate redudtase 1

Ikaros gene IKAROS 6

InMbM, alpha INHA 6

InMbin, beta A INHBA 6

InMbin, beta B INHBB 6

InMbm, beta C INHBC 6

Inositol 1,4,5-triphosphate receptor 3 ITPR3 6

Insulin INS 6

Insulin receptor INSR 6

Insulin-like growth factor 1 IGF1 6

Insulin-like growth factor 1 receptor IGF1R 6

I nsulin-like growth factor 2 IGF2 6

Insulin-like growth factor 2 receptor IGF2R 6

Integrin beta 1 ITGB1 6

Integrin beta 2 ITGB2 6

Mtegrin beta 3 ITGB3 6

Mtegrin beta 4 ITGB4 6

Mtegrin beta 5 ITGB5 6

Integrin beta 6 ITGB6 6

Integrin beta 7 ITGB7 6

Integrin, alpha 1 ITGA1 6

Integrin, alpha 2 ITGA2 6

Integrin, alpha 4 ITGA4 6

Integrin, alpha 5 ITGA5 6

Integrin, alpha 6 ITGA6 6

Integrin, alpha M ITGAM 6

Mterferon alpha IFNA1 4

Interferon beta IFNB 4

Interferon gamma IFNG 4

Mterferon gamma receptor 1 IFNGR1 4

Interferon gamma receptor 2 IFNGR2 4

Interferon regulatory factor 1 IRF1 4

Interferon regulatory factor 4 IRF4 4

MterleukM(IL) I receptor ILIR 4

MterleukM(IL) 1, alpha ILIA 4 Mterleukin(IL) 1, beta ILIB 4

Mterleukin(IL) 10 IL10 4

MterleukM(IL) 10 receptor IL10R 4

Mterleukin(IL) 11 IL11 4

Mterleuldn(IL) 1 1 receptor IL11R 4

MterleukM(IL) 12 IL12 4

Mterleukin(IL) 12 receptor, beta I IL12RB1 4

Interleukin(IL) 13 IL13 4

Mterleukin(IL) 13 receptor IL13R 4

Interleukin(IL) 2 IL2 4

Interleukin(IL) 2 receptor, alpha IL2RA 4

Mterleukin(IL) 2 receptor, gamma IL2RG 4

Interleukin(IL) 3 IL3 4

MterleuMn(IL) 3 receptor IL3R 4

Interleukin(IL) 4 IL4 4

Mterleuldn(IL) 4 receptor IL4R 4

Mterleukin(IL) 5 IL5 4

Interleukin(IL) 5 receptor IL5R 4

InterleukM(IL) 6 IL6 4

Mterleukin(IL) 6 receptor IL6R 4

Mterleukin(IL) 7 IL7 4

Interleukin(IL) 7 receptor IL7R 4

Mterleukin(IL) 8 IL8 4

Interleukin(IL) 8 receptor IL8R 4

Mterleukin(IL) 9 IL9 4

Mterleukin(IL) 9 receptor IL9R 4

MterleukM(IL) receptor antagomst I IL1RN, IL1RA 4

Janus kinase 1 JAK1 6

Janus kinase 2 JAK2 6

Janus kinase 3 JAK3 6

Lamimn 5, alpha 3 LAMA3 6

Lamimn 5, beta 3 LAMB3 6

Lamimn 5, gamma 2 LAMC2 6

Lamimn M LAMM 6

Lamimn receptor 1 LAMR1 6

Latent transformmg growth factor-beta binding LTBP2 6 protein 2

Leptin LEP 6

Leptin receptor LEPR 6

Leukaemia inMbitory factor LIF 6

Leukaemia inMbitory factor receptor LIFR 6

Leukotriene A4 hydrolase 4

Leukotriene B4 receptor 4

Leukotriene C4 receptor 4

Leukotriene D4/E4 receptor 4

LH/choriogonadotropm (CG) receptor LHCGR 6

LIM homeobox protein 1 LHX1 6 LIM. homeobox protem 2 LHX2 6

LIM homeobox protem 3 LHX3 6

LIM homeobox proteM 4 LHX4 6

LMibic associated membrane proteM LAMP 6

LIM-domain oMy protein 1 LMO1 6

LIM-domam oMy protein 2 LMO2 6

LIM-domaM oMy protein 3 LMO3 6

LIM-domain oMy protein 4 LMO4 6

Lipoma-preferred partner gene LPP 6

Lipoxygenase 12 (platelets) LOG12 4

Lipoxygenase 5 (leukocytes) 4

Long QT-type 2 potassium Channels LQT2, KCΝH2 2

Löwe oculocerbrorenal syndrome gene OCRL 1

Luteimzing hormone-releasing hormone 5

Luteimzing hormone-releasing hormone 5 receptor

Lymphoblastic leukemia derived sequence 1 LYL1 4

Lymphocyte-specific protein tyrosine kMase LCK 4

Lymphoid enhancer-bmding factor LEF-1 6

Macrophage activating factor MAF 4

MAD (mothers against decapentaplegic, MADH3 6

DrosopMla) homologue 3

MAD (mothers agaMst decapentaplegic, MADH4 6

DrosopMla) homologue 4

MADS box ttanscription-enhancer factor 2A MEF2A 6

MADS box transcription-enhancer factor 2B MEF2B 6

MADS box transcription-enhancer factor 2C MEF2C 6

MADS box transcnption-enhancer factor 2D MEF2D 6

Malignant proliferation, eosinopMl gene MPE 4

MAPK Idnase 1 MAPKK1; MEK1 6

MAPK kMase 4 MAPKK4; MEK4; 6

SERK1

MAPK kinase 6 MAPKK6; MEK6 6

MAPKK kinase MAPKKK 6

MAX-interacting protein 1 MXI 1 6

MEK kinase, MEKK 1

Melanocortin 1 receptor MCI R 2

Memn MEN1 6

MetMomne adenosyltiansferase MAT1 A, MAT2A 1

MetMomne synthase MTR 1

MetMomne synthase reductase MTRR 1

Methylguamne-DNA methyltiansferase MGMT 1

MHC Class 1 A 4 MHC Class 1 B 4 MHC Class 1 C 4 MHC Class 1 LMP-2, LMP-7 4 MHC Class 1 Tapl ABCR,TAP1 4 MHC Class 11: DP HLA-DPBL 4

MHC Class II: DQ 4

MHC Class II: DR 4

MHC Class II: Tap2 TAP2,PSF2 4

MHC Class ILComplementation group A MHC2TA 4

MHC Class ILComplementation group B rfxank 4

MHC Class ILComplementation group C RFX5 4

MHC Class ILComplementation group D RFXAP 4

Midlme 1 MIDI 6

Mismatch,repair gene, PMSL1 PMS1 6

Mismatch repair gene, PMSL2 PMS2 6

Mitogen-activated protein (MAP) kinase MAPK 6

Motilin MLN 6

Msh homeobox homolog 1 MSX1 6

Msh homeobox homolog 2 MSX2 6

Mucin 18 MUC18 2

Muscarimc receptor, Ml CHRM1 5

Muscarimc receptor, M2 CHRM2 5

Muscarimc receptor, M3 CHRM3 5

Muscarimc receptor, M4 CHRM4 5

Muscarimc receptor, M5 CHRM5 5

Mutated in colorectal cancers, MCC MCC 6

MutL homolog 1 MLHI 6

MutS homolog 2 MSH2 6

MutS homolog 3 MSH3 6

Myelin protein peripheral 22 PMP22 3

Myelodysplasia syndrome 1 gene MDS1 6

Myeloid leukemia factor- 1 MLF1 4

N-acetyltransferase 1 NAT1 1

N-acetyltransferase 2 NAT2 1 reductase

Nerve growth factor NGF 6

Nerve growth factor receptor NGFR 6

Neuregulin HGL 6

Neurexin 5

Neurofibromin 1 NF1 6

Neurofibromin 2 NF2 6

Neurokimn A NKNA 5

Neurokimn B NKNB 5

Neuronal apoptosis MMbitory protein NAIP 4

Neuropeptide Y NPY 5

Neuropeptide Y receptor Yl NPY1R 5

Neuropeptide Y receptor Y2 NPY2R 5

Neurotens NTS 5

Neurotensin receptor NTSR1 5

NeurotiopMc tyrosine Idnase receptor 1 NTRK1 6

Neutral endopeptidase 1 Niacin receptor 6

Nodal NODAL 6

Norrie disease protem NDP 6

Notch 3 NOTCH3 6

Notch ligand - jagged 1 JAG 1, AGS 6

Nuclear factor kappa beta NFKB 4

Nuclear factor of activated T cells (NFAT) NFATC 6 complex, cytosolic

Nuclear factor of activated T cells (NFAT) NFATP 6 complex, preexisting component

Nuclear mitotic apparatus protein 1 NUMA1 6

Nucleophosmin NPM1 2

OligopMemn-1 OPHN1 6

Oncogene abll ABLI 6

Oncogene abl2 6

Oncogene aktl 6

Oncogene akt2 AKT2 6

Oncogene axl AXL 6

Oncogene bcl2 6

Oncogene bcr/abi 6

Oncogene B-lym 6

Oncogene B-raf 6

Oncogene clkl 6

Oncogene c-myc 6

Oncogene cot 6

Oncogene crk 6

Oncogene crkl 6

Oncogene ect2 6

Oncogene ELK1 ELK1 6

Oncogene ELK2 ELK2 6

Oncogene emsl 6

Oncogene ERB 6

Oncogene ERB2 6

Oncogene ERBA 6

Oncogene ERBAL2 6

Oncogene ERG (early reponse gene) 6

Oncogene ETSI 6

Oncogene ETS2 6

Oncogene EVI1 EVI1 6

Oncogene fes 6

Oncogene fgr 6

Oncogene fos FOS 6

Oncogene fps 6

Oncogene GLI1 GLI 6

Oncogene GLI2 GLI2 6

Oncogene GLI3 GLI3 6

Oncogene grol 6

Oncogene v-Ki-ras2 KRAS2 6

Oncogene yes 6

Oncogene yuasa 6

Oncostatin M OSM 6

Oncostatin M receptor OSMR 6

Opioid receptor, delta OPRD1 5

Opioid receptor, kappa OPRK1 5

Opioid receptor, mu OPRM1 5

Orexin OX 6

Osteopontin OPN 6

Oxytocm OXT 5

Oxytocin receptor OXTR 5

Paired box homeotic gene 3 PAX3 6

Paired box homeotic gene 6 PAX6 6

Paired box homeotic gene 7 PAX7 6

Paired-like homeodomain transcription factor 2 PITX2 6

Paired-like homeodomain transcription factor 3 PITX3 6

Parathyroid hormone PTH 6

Parathyroid hormone receptor PTHR1 6

Parathyroid hormone related-peptide PTHRP 6

Parvalbumin PVALB 6

Patched (DrosopMla) homolog, PTCH PTCH 6

PCNA (proliferating cell nuclear antigen) 1

Peanut-like 1 PNUTL1 4

Peroxisome proliferative activated receptor, PPARA 2 alpha

Peroxisome proliferative activated receptor, PPARG 2 gamma

P-glycoprotein 1 PGY1 2

P-glycoprotein 3 PGY3 2

Phenylalamne hydroxylase PAH 1

Phosphatase & tensin homolog PTEN 6

Phosphatidylinositol glycan, class A PIGA 6

(paroxysmal nocturnal hemoglobinuria)

Phospholipase A2, group 10 PLA2G 10 4

Phospholipase A2, group IB PLA2G1B 4

Phospholipase A2, group 2A PLA2G2A 4

Phospholipase A2, group 2B PLA2G2B 4

Phospholipase A2, group 4A PLA2G4A 4

Phospholipase A2, group 4C PLA2G4C 4

Phospholipase A2, group 5 PLA2G5 4

Phospholipase A2, group 6 PLA2G6 4

Phospholipase C epsilon 4

Phosphomannomutase 1 PMM1 6

Phosphomannomutase 2 PMM2 6

Plasminogen PLG 1

Plasmmogen activator inMbitor 1 PAH 1 Plasminogen activator inMbitor 2 PAI2 1

Plasminogen activator receptor, UrokMase UPAR;PLAUR 3

Plasmmogen activator, Tissue PLAT;TPA 1

Plasmmogen activator, UrokMase UPNPLAU 1

Platelet derived growth factor PDGF 6

Platelet derived growth factor receptor PDGFR 6

Platelet glycoprotein lb, beta GP1BB 4

Platelet glycoprotein I b, gamma GP1BG 4

Platelet glycoprotem IX GP9 4

Platelet glycoprotem V GP5 4

Potassium inwardly-rectifying channel Jl KCNJ1 5

Potassium inwardly-rectifying channel Jl 1 KCNJ11 5

Potassium voltage-gated channel AI KCNA1 5

Potassium voltage-gated channel El KCNE1 5

Potassium voltage-gated channel Ql KCNQl 5

Potassium voltage-gated channel Q2 KCNQ2 5

Potassium voltage-gated Channel Q3 KCNQ3 5

POU domain, class 1, tianscription factor 1 POUIFI 6

(Pitl)

POU domain, class 3, transcription factor 4 POU3F4 6

POU domain, class 4, transcription factor 3 POU4F3 6

Pre-B-cell leukemia tianscription factor 1 PBXL 6

Preproglucagon GCG;GLPL; GLP2 6

Preproglucagon 2

Prion protein PRNP 5

ProdynorpMn 5

ProMbitin PHB 6

Prolactin PRL 6

Prolactin receptor PRLR 6

Prolactin releasing hormone PRH 6

Proliferin PLF 6

Promyelocytic-leukemia gene PML 6

Proopiomelanocortin POMC 5

Prophet of Pitl PROP1 6

Prostacyclm synthase _. 4

Prostagiandin 15-OH dehydrogenase HGPD; PGDH 4

Prostaglandin D - DP receptor 4

Prostagiandin El receptor 4

Prostaglandin E2 receptor 4

Prostagiandin E3 receptor 4

Prostaglandin F - FP receptor 4

Prostagiandin IP receptor 4

Prostate cancer anti-metastasis gene KAI I KAI 1 6

ProteM Idnase B PRKB

Protem Idnase C, alpha PRKCA 1

Protem phosphatase 2, regulatory subimit A, PPP2R1B 1 beta isoform Prote tyrosMe phosphatase, non-receptor PTPN12 6 type 12

Purine nucleoside phosphorylase NP 1

Purinergic receptor Pl AI 5

Purinergic receptor Pl A2 5

Purinergic receptor Pl A3 5

Purinergic receptor P2X, 1 P2RX1 1

Purinergic receptor P2X, 2 P2RX2 5

Purinergic receptor P2X, 3 P2RX3 5

Purinergic receptor P2X, 4 P2RX4 5

Pudnergic receptor P2X, 5 P2RX5 5

Purinergic receptor P2X, 6 P2RX6 5

Purinergic receptor P2X, 7 P2RX7 5

Purinergic receptor P2Y, 1 P2RY1 5

Purinergic receptor P2Y, 11 P2RY11 5

Purinergic receptor P2Y, 2 P2RY2 5

RabpMlin 5

RAD51, DNA repair protein RAD51 6

RAD52, DNA repair protein RAD52 6

RAD54, DNA repair protein RAD54 6

RAD55, DNA repair protein RAD55 6

RAD57, DNA repair protein RAD57 6

RAS-associated protein, RAB3 A RAB3A 5

Ras-G-protein RAS 6

Receptor tyrosme kinase (RTK), Nsk2 NSK2 6

RelaxM Hl RLN1 6

Relaxin H2 RLN2 6

Replication factor A 1

Replication factor C RFC2 1

Retinoblastoma 1 RB1 6

Retinoic acid receptor, alpha RARA 6

Retinoic acid receptor, beta RARB 6

Retinoic acid receptor, gamma RARG 6

RetinoscMsis, X-linked, juvemle RS 6

Rhabdoid tumors SMARCSI 6

Ribonucleotide reductase, RRM 1

Ribosomal protein L13A RPL13A 6

Ribosomal protein L17 RPL17 6

Ribosomal protein S6 Idnase RPS6KA3 1

RIGUI RIGUI 6

Rim 5

RyanodMe receptor 1, skeletal RYR1 6

S-adenosylmetMonme decarboxylase, AMD 1

SAP (SLAM-associated protem) SH2D1A 4

Secretin SCT 2

Secretin receptor, SCTR SCTR 2

Serine hydroxymethyltiansferase SHMT 1 Serine/tiireomne Idnase 11 STK11 6

Serine/tMeomne kinase 2 STK2 6

Serotomn receptor, 5HT1 A HTR1A 5

Serotomn receptor, 5HT1B HTR1B 5

Serotomn receptor, 5HT1C HTR1C 5

SerotonM receptor, 5HT1D HTR1D 5

Serotomn receptor, 5HT1E HTR1E 5

Serotomn receptor, 5HT1F HTR1F 5

Serotomn receptor, 5HT2A HTR2A 5

Serotomn receptor, 5HT2B HTR2B 5

Serotomn receptor, 5HT2C HTR2C 5

Serotomn receptor, 5HT3 HTR3 5

SerotonM receptor, 5HT4 HTR4 5

Serotomn receptor, 5HT5 HTR5 5

Serotomn receptor, 5HT6 HTR6 5

SerotonM receptor, 5HT7 HTR7 5

Signal tiansducer and activator of transcription STATI 6

I

Signal tiansducer and activator of tianscription STAT2

2

Signal tiansducer and activator of transcription STAT3

3

Signal tiansducer and activator of transcription

4

Signal transducer and activator of transcription STAT5 6

5

Signaling lymphocyte activation molecule SLAM 4

Sine oculis homeobox, drosopMla, homolog 1 SLX1 6

Sine oculis homeobox, drosopMla, homolog 2 SE 2 6

Sine oculis homeobox, drosopMla, homolog 5 SIX5 6

Small nuclear ribonucleoprotein polypeptide N SNRPN 3

Smoothened (DrosopMla) homolog SMOH 6

Sodium channel, non-voltage gated 1, alpha SCNNIA 5

Sodium channel, non-voltage gated 1, beta SCNNIB 5

Sodium channel, non-voltage gated 1, gamma SCNNIG 5

Sodium channel, voltage gated, type V, alpha SCN5A 5 polypeptide

Sodium channel, voltage-gated, type 1, beta SCN1B 5 polypeptide

Solute carrier family 1 (glutamate transporter), SLC1A1 2 member 1

Solute carrier family 1 (glutamate tiansporter), SLC1A2 2 member 2

Solute carrier family 12, member 1 SLC12A1 2

Solute carrier family 12, member 2 SLC12A2 2

Solute carrier family 12, member 3 SLC12A3 2

Solute carrier family 19 (folate transporter), SLC19A1 2 member 1

Solute carrier family 25, member 12 SLC25A12 2

Solute carrier family 5 (sodium/glucose SLC5A1 2 tiansporter), member 1

Solute carrier family 5 (sodium/glucose SLC5A2 2 tiansporter), member 2

Solute carrier family 5 (sodium/glucose SLC5A5 2 tiansporter), member 5

Solute carrier family 5, member 3 SLC5A3 2

Solute carrier family 6 (GAMMA- SLC6A1 2

AMINOBUTYRIC ACID tiansporter), member 1

Solute carrier family 6 (neurotransmitter SLC6A3 2 tiansporter, dopamine), member 3

Solute carrier family 6 (neurotransmitter SLC6A2 2 tiansporter, noradrenaline), member 2

Solute carrier family 6 (neurotransmitter SLC6A4 2 transporter, serotomn), member 4

Somatostatin SST 5

Somatostatin receptor, SSTR1 SSTR1 5

Somatostatin receptor, SSTR2 SSTR2 6

Somatostatin receptor, SSTR3 SSTR3 5

Somatostatin receptor, SSTR4 SSTR4 5

Somatostatin receptor, SSTR5 SSTR5 5

Sorcin SRI 2

SOSI guamne nucleotide exchange factor SOSI 6

SRY-box 11 SOX11 6

Stern cell factor SCF 6

Steroid hormone receptor responsive DNA 6 elements

Steroidogemc acute regulatory protein STAR 2

Substance P 5

Sulfonylurea receptor SUR 6

Suppression of tumorigemcity 3 gene ST3 6

Suppression of tumorigemcity 8 gene ST8 6

Surfeit 1 SURF1 6

Synapsm I a & lb SYN1 5

Synapsin 2a & 2b SYN2 . 5

Synaptic vesicle protein 2 SV2 5

Synaptobrevin 1 SyBl 5

Synaptobrevin 2 SYB2 5

Synaptogyrin 5

Synaptophys SYP 5

Synaptosomal-associated protein, 25KD SNAP25 5

Synaptotagmin 1 SYT1 5

Synaptotagmm 2 SYT2 5

Syndecan 1 SYND1 6

Syndecan 2 SYND2 6 Syndecan 3 SYND3 6

Syndecan 4 SYND4 6

Synovial sarcoma gene 1 SSX1 6

Synovial sarcoma gene 2 SSX2 6

Syntaxin 1 STX1 5

Tachykmin receptor, NK1R TACR1 5

Tachykimn receptor, NK2R TACR2 5

Tachykmin receptor, NK3R TACR3 5

Talin TLN 6

Talin, TLN 3

T-cell acute lymphocytic leukemia 1 TAL1 4

T-cell acute lymphocytic leukemia 2 TAL2 4

T-cell receptor, alpha TCRA 4

T-cell receptor, delta TCRD 4

Telomerase protein component 1

TenascM (cytotactin) 3

Tenascin XA TNXA 3

Termmal deoxynucleotidyltiansferase, TDT 1

Testis-specific proteM Y TSPY 6

TMombopoietin THPO 6

TMomboxane A synthase 1 TBXAS1 4

TMomboxane A2 TXA2 4

TMomboxane A2 receptor TBXA2R 4

Thy-1 T-cell antigen THY1 4

Thymidylate synthase TYMS 1

Thymopoietin TMPO 6

Thymosin 4

Thyroid-stimulating hormone receptor TSHR 6

Thyroid-stimulating hormone, alpha TSHA 6

Thyroid-stimulating hormone, beta TSHB 6

Thyrotropin releasing hormone TRH 5

Thyrotropin releasing hormone TRH 6

Thyrotropin releasing hormone receptor TRHR 5

Tip-associated protein TAP 4

Tissue MMbitor of metalloproteinase 1, TIMP1 TPMP1

Tissue inMbitor of metalloproteinase 2, TIMP2 TIMP2

Tissue MMbitor of metalloprotemase 3, TIMP3 TIMP3

TissueinMbitorofmetalloprotemase4,TIMP4 TIMP4

Topoisomerase II

Transacylase

Transcobalamin 1, TCN1 2

Transcobalamm 2, TCN2 TCN2 2

Transcription factor 1, hepatic TCF1 6

Transcription factor 2, hepatic TCF2 6

Transcription factor 3 TCF3 6

Transcription factor bMding to IGHM enhancer TFE3 6

3 Transcription termmation factor, RNA TTF1 6 polymerase 1

Transcription termmation factor, RNA TTF2 6 polymerase 2

Transcription temώiation factor, RNA TTF3 6 polymerase 3

Transferrin TF 6

Transferrin receptor TFRC 6

Transforming growth factor, alpha TGFA 6

Transforming growth factor, beta 2 TGFB2 6

Transforming growth factor, beta induced TGFBI 6

Transforming growth factor, beta receptor 2 TGFBR2 6

Translocation M renal carcmoma on TRC8 6 cMomosome 8 gene

Tuberous sclerosis 1 TSC1 6

Tuberous sclerosis 2 TSC2 6

Tubulin 3

Tumor susceptibility gene 101 TSG101 6

Tumour necrosis factor (TNF) receptor TRAF1 4 associated factor 1

Tumour necrosis factor (TNF) receptor TRAF2 4 associated factor 2

Tumour necrosis factor (TNF) receptor TRAF3 4 associated factor 3

Tumour necrosis factor (TNF) receptor TRAF4 4 associated factor 4

Tumour necrosis factor (TNF) receptor TRAF5 4 associated factor 5

Tumour necrosis factor (TNF) receptor TRAF6 4 associated factor 6

Tumour necrosis factor alpha TNFA 4

Tumour necrosis factor alpha receptor TNFAR 4

Tumour necrosis factor beta TNFB 4

Tumour necrosis factor beta receptor TNFBR 4

Tumour protein p53 TP53,P53 6

Tumour protein p63 TP63 6

Tumour protem p73 TP73 6

Tumour protem, translationally-contiolled 1 TPT1 6

Tumour suppresssor gene DRA DRA 4

Twist (DrosopMla) homolog TWIST 6

Ubiquitin 6

Ubiquitin activating enzyme, El 1

Ubiquitin B UBB 6

Ubiquitin C UBC 6

Ubiquitin fusion degeneration 1 -like UFD1L 6

Ubiquitin protein ligase E3 A UBE3A 1

Vacuolar proton pump, subimit 1 VPP1 5 Vacuolar proton pump, subimit 3 VPP3 5

Vasoactive mtestmal polypeptide VIP 5

Vasoactive intestinal polypeptide receptor VIPR 5

Vitamm B12-bMdmg (R) protem 6

Vitamin D receptor VDR 6 v-myc avian myelocytomatosis viral oncogene MYC 6 homolog

Von Hippel-Lmdau gene VHL 6

Werner syndrome helicase WRN 6

Wilms tumour gene 1 WT I 6

Wi ms tumour gene 2 WT2 6

Wilms tumour gene 4 WT4 6

Winged helix nude WHN 6

Wiskott-Aldrich syndrome protem WASP, THC 4

Xeroderma pigmentosum, complementation XPB group B

Xeroderma pigmentosum, complementation XPC group C

Xeroderma pigmentosum, complementation group D

Xeroderma pigmentosum, complementation group E

Xeroderma pigmentosum, complementation XPF group F

Xeroderma pigmentosum, complementation ERCC5 group G

X-ray repair gene XRCC9 6

YY1 tianscription factor YY1 6

Zinc finger proteM HRX ALLl 4

dass die mit Symptomen und Konsequenzen von CNS-FeMflmktion in Zusammenhang stehenden Gene ausgewäMt sind aus:

Liste der Gene HUGO Protein- Gensymbol fiinktion

11 -beta hydroxysteroid dehydrogenase 2 HSD11B2 2,3-bisphosphoglycerate mutase BPGM 2,4-dienoyl CoA reductase DECR 3 beta hydroxysteroid dehydrogenase 2 HSD3B2 3-oxoacid CoA tiansferase OXCT 4-hydroxyphenylpymvate dioxygenase HPD 5,10-methylenetetiahydrofolate reductase MTHFR (NADPH) 6-pyruvoyltetiahydropterm synthase PTS 1

Acetoacetyl 2-CoA-tMolase ACAT2 1

Acetyl CoA acyltiansferase ACAA 1

Acetyl CoA carboxylase alpha ACACA 1

Acetylcholine receptor, nicotimc, alpha AI CHRNAl 5

Acetylcholine receptor, nicotimc, alpha A2 CHRNA2 5

Acetylcholine receptor, nicotimc, alpha A3 CHRNA3 5

Acetylcholine receptor, nicotimc, alpha A4 CHRNA4 5

Acetylcholine receptor, nicotimc, alpha A5 CHRNA5 5

Acetylcholine receptor, nicotimc, alpha A6 CHRNA6 5

Acetylcholine receptor, nicotimc, alpha A7 CHRNA7 5

Acetylcholine receptor, nicotimc, beta 1 CHRNB1 5

Acetylcholine receptor, nicotimc, beta 2 CHRNB2 5

Acetylcholine receptor, nicotimc, beta 3 CHRNB3 5

Acetylcholine receptor, nicotimc, beta 4 CHRNB4 5

Acetylcholine receptor, nicotimc, epsilon CHRNE 5

Acetylcholine receptor, nicotimc, gamma CHRNG 5

Acetylcholinesterase ACHE

Acyl CoA dehydrogenase, long chain ACADL

Acyl CoA dehydrogenase, medium chain ACADM

Acyl CoA dehydrogenase, short chain ACADS

Acyl-CoA tMoesterase

Adaptin, beta 3A ADTB3A 2

AdducM, alpha ADD1 3

AdducM, beta ADD2 3

Adenosine monophosphate deammase AMPD 1

Adenosine receptor AI ADORA1 5

Adenosine receptor A2A ADORA2A 5

Adenosine receptor A2B ADORA2B 5

Adenosine receptor A3 ADORA3 5

Adenyl cyclase 5

Adenylate cyclase I ADCY1

Adenylate cyclase 2 ADCY2

Adenylate cyclase 3 ADCY3

Adenylate cyclase 4 ADCY4

Adenylate cyclase 5 ADCY5

Adenylate cyclase 6 ADCY6

Adenylate cyclase 7 ADCY7

Adenylate cyclase 8 ADCY8

Adenylate cyclase 9 ADCY9

Adenylosuccinate lyase ADSL

Adrenergic receptor, alphal ADRAL 5

Adrenergic receptor, alpha2 ADRA2 5

Adrenergic receptor, betal ADRB1 5

Adrenergic receptor, beta2 ADRB2 5

Adrenergic receptor, beta3 ADRB3 5

AdrenocorticotiopMc hormone (ACTH) ACTHR 6 Adrenoleukodystiophy gene ALD 1

Albumin, ALB ALB 2

Aldehyde dehydrogenase 10 ALDH10 1

Aldolase A ALDOA 1

Aldolase B ALDOB 1

Aldolase C ALDOC 1

Aldosterone receptor MLR 6

Alpha 2 macroglobulin A2M 4 alpha tectorin TECTA 6 alpha thalassemia gene ATRX 5 alphal -antitrypsM Pl alpha2-antiplasmin PLI alpha-Galactosidase A GLA alpha-ketoglutarate dehydrogenase alpha-L-Iduromdase IDUA alpha-synuclein SNCA

Ammomethyltiansferase AMT

Aminopeptidase P XPNPEP2

Amylo-1 ,6-glucosidase AGL

Amyloid beta (A4) precursor protein-bindmg, APBB1 5

APBB1

Amyloid beta A4 precursor protein APP 5

Amyloid beta A4 precursor-like protein APLP 5

Angiopoietin 1 ANGPT1 6

Angiopoietin 2 ANGPT2 6

AngiotensM converting enzyme ACE, DCP1 1

AngiotensM receptor 1 AGTR1 2

Angiotensin receptor 2 AGTR2 2

Angiotensinogen AGT 1

Antidiuretic hormone receptor ADHR 2

AntitMombin III AT3 1

Apolipoprotein A I APOA1 2

Apolipoprotein A l l APOA2 2

Apolipoprotem B APOB 2

ApolipoproteM Cl APOC1 2

Apolipoprotein C2 APOC2 2

Apolipoprotein C3 APOC3 2

Apolipoprotein D APOD 2

Apolipoprotem E APOE 2

ApolipoproteM H APOH 2

Archaete-scute homolog 2 ASH2 6

Arginase ARG1 1

Argimne vasopressM AVP 5

Arginosuccinate lyase ASL 1

Argmosuccinate synthetase ASS 1

Arylsulfatase A ARSA 1 Arylsulfatase B ARSB

Arylsulfatase D ARSD

Arylsulfatase E ARSE

Arylsulfatase F ARSF

Aspaftoacylase ASPA

Aspartylglucosammidase AGA

Astiotactin ASTN 6

Ataxia telangiectasia complementation group ATD,ATDC 6

D

Ataxia telangiectasia gene, AT ATM 6

ATP-bindMg cassette tiansporter 7 ABC7 4

Atiial natiiuretic peptide ANP 6

Atiial natriuretic peptide receptor A NPR1 6

Atiial natriuretic peptide receptor B NPR2 6

Atiial natriuretic peptide receptor C NPR3 6

Bagpipe homeobox, drosopMla homolog of, 1 BAPX1 6 beta-Glucuromdase GUSB 1 beta-synuclem SNCB 5

Bilirubin UDP-glucuronosyltiansferase 1

Bloom syndrome protein BLM 6

Bradykimn receptor Bl

Bradykimn receptor B2

Brain derived neurotrophic factor BDNF 6

Brain derived neurotrophic factor (BDNF) BDNFR 6 receptor

Butyrylcholinesterase BCHE 1

Ca(2+) tiansporting ATPase, slow twitch ATP2A2 2

Cadherin E CDH1 6

Cadherin EP 6

Cadherin N CDH2 6

Cadherin P CDH3 6

CalbindM 1 CALB1 6

Calbindm D9K CALB3 6

Calcmeurin AI CALNA1

Calcineurin A2 CALNA2

Calcineurin A3 CALNA3

Calcineurin B

Calcitomn/Calcitomn gene-related peptide CALCA 5 alpha

Calcium channel, voltage-dependent, alpha CACNA1F 5

1 F subumt

Calcium channel, voltage-dependent, Alpha- CACNA1B 5

1 B (CACNLI A5)

Calcium channel, voltage-dependent, Alpha- CACNA1C 5

I C

Calcium channel, voltage-dependent, Alpha- CACNA1D 5

1 D Calcium channel, voltage-dependent, Alpha- CACNA1E 5

I E (CACNLL A6)

Calcium channel, voltage-dependent, Alpha- CACNA2 5

2/delta

Calcium channel, voltage-dependent, Beta 1 CACNB1 5

Calcium channel, voltage-dependent, Beta 3 CACNB3 5

Calcium channel, voltage-dependent, L type, CACNA1S 5 alpha IS submiit

Calcium channel, voltage-dependent, CACNG2 5

Neuronal, Gamma

Calcium channel, voltage-dependent, P/Q CACNA1A 5 type, alpha 1 A subimit

Calcium channel, voltage-dependent, T-type 5

Calmodulin 1 CALM1 6

Cahnodulin 2 CALM2 6

Calmodulin 3 CALM3 6

Calmodulin-dependant protein Idnase 11 CAMK2A 6

Calnexin CANX 6

Calpain CAPN,CAPN3 1

Calret in CALB2 5

Cannabinoid receptor CNR1 5

Carbomc anhydrase 3 CA3 1

Carbomc anhydrase 4 CA4 1

Carbomc anhydrase, alpha CA1 1

Carbomc anhydrase, beta CA2 1

Cardiac-specific homeobox, CSX CSX 6

Camitine acetyltiansferase CRAT 1

Camitine acyicamitine translocase CACT 1

Camitine transporter proteM CDSP, SCD 2

Carnosinase 5

Caspasel CASP1 6

Catechol-o-methyltransferase COMT 1

CD1 CD1

CD4 CD4

Cell adhesion molecule, neural, NCAMl NCAMl 6

Cell adhesion molecule, neural, NCAMl 20 NCAM120 6

Cell adhesion molecule, neural, NCAM2 NCAM2 6

Ceroid lipofuscMosis neuronal 2 CLN2 5

Ceroid lipofuscinosis neuronal 3 CLN3 5

Ceroid lipofuscMosis neuronal 4 CLN4 5

Ceroid lipofuscmosis neuronal 5 CLN5 5

Ceroid lipofuscMosis neuronal 6 CLN6 5

Chemokine receptor CCR2 CCR2

Chemokine receptor CCR3 CCR3

Chemokine receptor CCR5 CCR5 4

Chemokine receptor CXCR4 CXCR4 4

CMoride channel 1, skeletal muscle CLCN1 3 Cholecystokimn CCK 5

Cholecystokimn B receptor CCKBR 5

Cholme acetyltransferase CHAT 1

Choroideremia gene CHM 3

CMomogramn A CHGA 6

Chymotrypsinogen 1

Ciliary neurotropMc factor (CNTF) CNTF 6

Ciliary neurotropMc factor (CNTF) receptor CNTFR 6

Clathrin 2

CoA tiansferase 1

CocMin COCH 4

Cockayne syndrome gene, CKNI CKNI 6

Cofilin 3

Collagen I alpha 1 COL1A1 3

Collagen I alpha 2 COL1A2 3

Collagen II alpha 1 COL2A1 3

Collagen III alpha 1 COL3A1 3

Collagen IV alpha 1 COL4A1 3

Collagen IV alpha 2 COL4A2 3

Collagen IV alpha 3 COL4A3 3

Collagen IV alpha 4 COL4A4 3

Collagen TV alpha 5 COL4A5 3

Collagen IV alpha 6 COL4A6 3

Collagen IX alpha 2 COL9A2, EDM2 3

Collagen IX alpha 3 COL9A3 3

Collagen receptor COLR 3

Collagen V alpha 1 COL5A1 3

Collagen V alpha 2 COL5A2 3

Collagen VI alpha 1 COL6A1 3

Collagen VI alpha 2 COL6A2 3

Collagen VI alpha 3 COL6A3 3

Collagen VII alpha 1 COL7A1 3

Collagen X alpha 1 COL10A1 3

Collagen X alpha 1 COLI 1 AI 3

Collagen XI alpha 2 COLL 1A2 3

Collagen XVII alpha l COL1 A1 3

Coliagemc-like tail subumt of asymmetric COLQ 1 acetylcholinesterase

Colony-stimulating factor 1 CSF1 6

Colony-stimulatmg factor 1 receptor CSFIR 6

Colony-stimulating factor 2 CSF2 6

Colony-stimulating factor 2 alpha receptor CSF2RA 6

Colony-stimulating factor 2 beta receptor CSF2RB 6

Complex V MTATP6 1

Cone-rod homeobox-contaming gene CRX 6

Contactin CNTN1 6

CorticotropMn-releasmg hormone CRH 2 CorticotropMn-releasmg hormone receptor CRHR1 2

Creb bmdMg protem CREBBP 6

Cu2+ transporting ATPase beta polypeptide ATP7B 1

Cyclic AMP response element bMdMg protem CREB 6

Cyclic AMP-dependent proteM kinase PKA 1

Cyclic nucleotide gated Channel alpha 1, CNGAL 5

CNGA1

Cyclic nucleotide gated Channel alpha 3, CNGA3

CNGA3

Cyclic nucleotide phosphodiesterase IB PDEIB

Cyclic nucleotide phosphodiesterase IBl PDELBI

Cyclic nucleotide phosphodiesterase 2A3 PDE2A3

Cyclic nucleotide phosphodiesterase 3 A PDE3A

Cyclic nucleotide phosphodiesterase 3B PDE3B

Cyclic nucleotide phosphodiesterase 4A PDE4A

Cyclic nucleotide phosphodiesterase 4C PDE4C

Cyclic nucleotide phosphodiesterase 5 A PDE5A

Cyclic nucleotide phosphodiesterase 6A PDE6A

Cyclic nucleotide phosphodiesterase 6B PDE6B

Cyclic nucleotide phosphodiesterase 7 PDE7

Cyclic nucleotide phosphodiesterase 8 PDE8

Cyclic nucleotide phosphodiesterase 9A PDE9A

Cyclin-dependent kinase 2 CDK2

Cyclooxygenase 1 COX1

Cyclooxygenase 2 COX2

CYP11A1 CYPL1A1

CYP11BI CYP11B1

CYP11B2 CYP11B2

CYP17 CYP17

CYP19 CYP19

CYPIAI CYPIAI

CYP1A2 CYP1A2

CYP1B1 CYP1B1

CYP21 CYP21

CYP24 CYP24

CYP27 CYP27

CYP27B1 PDDR

CYP2A1 CYP2A1

CYP2A33 CYP2A13

CYP2A3 CYP2A3

CYP2A6V2 CYP2A6V2

CYP2A7 CYP2A7

CYP2B6 CYP2B6

CYP2C18 CYP2C18

CYP2C19 CYP2C19

CYP2C8 CYP2C8

CYP2C9 CYP2C9 CYP2D6 CYP2D6

CYP2E1 CYP2E1

CYP2F1 CYP2F1

CYP2J2 CYP2J2

CYP3A3 CYP3A3

CYP3A4 CYP3A4

CYP3A5 CYP3A5

CYP3A7 CYP3A7

CYP4A11 CYP4A11

CYP4B1 CYP4B1

CYP4F2 CYP4F2

CYP4F3 CYP4F3

CYP51 CYP51

CYP5A1 CYP5A1

CYP7A CYP7A

CYP8 CYP8

CystatMonase CTH

CystatMone beta synthase CBS

Cystatin B CSTB 2

Cystatin C CST3 2

Cystinosin CTNS 2

Cytidine deaminase CDA

Cytidine-5-prime-tiiphosphate synthetase CTPS

CytocMome a

CytocMome c

CytocMome c oxidase, MTCO

CytokMe-suppressive antiinflammatory drug- CSBPl 4 binding protein 1

Cytokine-suppressive antiinflammatory drug- CSBP2 4 binding protein 2

DAXl nuclear receptor DAXl 4

Deafhess autosomal dominant 5 DFNA5 5

Deafhess dystoma peptide DDP 5

Deleted in malignant brain tumours 1 DMBTl 6

Delta aminolevulinate dehydratase ALAD 1

Delta-7-dehydrocholesterol reductase DHCR7 1

DHEA sulfotransferase STD 1

Diaphanous 1 DIAPH1 5

Diaphanous 2 DIAPH2 5

Dihydrolipoamide branched chain DBT 5 tiansacylase

Dihydrolipoamide dehydrogenase DLD 5

Dihydrolipoyl dehydrogenase 2 PDHA

Dihydrolipoyl tiansacetylase PDHA

Dihydroxyacetonephosphate acyltiansferase DHAPAT

DNA glycosylases

DNA helicases DNA Ligase I LIG1 1

DNA methyltiansferase DNMT 1

DOPA decarboxylase DDC 1

Dopamme beta hydroxylase DBH 1

Dopamme receptors Dl DRD1 5

Dopamme receptors D2 DRD2 5

Dopamme receptors D3 DRD3 5

Dopamme receptors D4 DRD4 5

Dopamine receptors D5 DRD5 5

DoublecortM, DCX DCX 3

Dynamm DNM1 6

Dystoma 1 DYT1 3

Dystoma 3 DYT3 3

Dystoma 6 DYT6 3

Dystoma 7 DYT7 3

Dystoma 9 CSE 3

DystropMa myotomca DM, DMPK 1

DystropMa myotomca, atypical DM2 1

DystropMn DMD 3

Ectodermal Dysplasia 1 gene EDI 3

Electron-transfering-flavoprotein alpha ETFA 2

Electron-transfering-flavoprotein beta ETFB 2

Electron-transfening flavoprotein ETFDH 1 dehydrogenase

Emerin EMD 2

Empty spiracies (drosopMla) homologue 1 EMX1 6

Empty spiracies (drosopMla) homologue 2 EMX2 6

Endobrevin VAMP8 5

Endothelin 1 EDN1 5

Endothelin 2 EDN2 5

Endothelin 3 EDN3 5

Endothelin converting enzyme ECE1 5

Endothelin receptor type A EDNRA 5

Endothelin receptor type B EDNRB 5

Enolase ENO1 1

Enoyl CoA isomerase 1

Enoyl CoA reductase 1

Enterokinase PRSS7, ENTK 1

Ephrin-A EFNA 6

EpMM-B EFNB 6

Epidermal growth factor EGF 6

Epidermal growth factor receptor EGFR 6

Epilepsy, progressive myoclomc 2 gene EPM2A 1

EWS RNA-bMding protein EWSR1 6

Excision repair complementation group 4 ERCC4 1 proteM

Exostosm 1 EXTI 3 Exostosin 2 EXT2 3

Factor I (No. one) FI 4

Factor III F3 4

Factor IX F9 4

Factor V F5 4

Factor VII F7 4

Factor VIII F8 4

Factor X F10 4

Factor XI Fll 4

Factor Xii F12 4

Factor XIII A & B F13A & F13B 4

Fancom anemia, complementation group A FANCA 2

Fancom anemia, complementation group C FANCC 2

Fancom anemia, complementation group D FANCD 2

Fibrillin 2 FBN2 6

Fibrinogen alpha FGA 3

Fibrinogen beta FGB 3

Fibrinogen gamma FGG 3

Fibroblast growth factor ^" * FGF1 6

Fibroblast growth factor receptor 1 FGFR1 6

Fibroblast growth factor receptor 2 FGFR2 6

Fibroblast growth factor receptor 3 FGFR3 6

Fibronectin precursor FN1 6

Flightless-11, DrosopMla homolog of FLII 6

Follicle stimulating hormone receptor FSHR,ODGl 6

Fol icle stimulating hormone, FSH FSHB 6

Forkhead tianscription factor IO FKHL10 6

Formiminotransferase 1

Fragile site, folic acid type, rare, frafX) A FRAXA 5

Fragile site, folic acid type, rare, fra(X) E FRAXE 5

Fragile site, folic acid type, rare, fra(X) F FRAXF 5

Frataxin FRDA 6

Fmctose- 1 ,6-diphosphatase FBP1 1

Fukuyama type congemtal muscular FCMD 6 dystiophy

GABA receptor, alpha 1 GABRAL 5

GABA receptor, alpha 2 GABRA2 5

GABA receptor, alpha 3 GABRA3 5

GABA receptor, alpha 4 GABRA4 5

GABA receptor, alpha 5 GABRA5 5

GABA receptor, alpha 6 GABRA6 5

GABA receptor, beta 1 GABRB1 5

GABA receptor, beta 2 GABRB2 5

GABA receptor, beta 3 GABRB3 5

GABA receptor, gamma 1 GABRG1 5

GABA receptor, gamma 2 GABRG2 5

GABA receptor, gamma 3 GABRG3 5 GABA tiansamMase ABAT 1

Galactocerebrosidase GALC 1

Galactose 1 -phosphate uridyi-tiansferase GALT 1

Galactosyltransferase 1 GT1 6

Galactosyltransferase, alpha 1,3 GGTAL 6

Galactosyltransferase, beta 3 B3GALT 6

Galamn GAL 5

Galamn receptor GALNRL 5

Gamma-glutamyltransferase 1 GGTI 2

Gap junction proteM beta 2 GJB2 2

Gap junction protein beta 3 GJB3 2

Gastric Intrinsic factor, GIF GIF 1

Gastrulation brain homeobox 2 GBX2 6

Gemospasm I GSM1 6

Gephyrin 5

Glial-cell derived neurotropMc factor (GDNF) 5 receptor

Glial-cell derived neurotiopMc factor, GDNF GDNF 5

Glucosidase, acid alpha GAA 1

Glutamate decarboxylase, GAD GAD1 1

Glutamate dehydrogenase GLUD1 1

Glutamate receptor 1 GLURI 5

Glutamate receptor 2 GLUR2 5

Glutamate receptor 3 GLUR3 5

Glutamate receptor 4 GLUR4 5

Glutamate receptor 5 GLUR5 5

Glutamate receptor 6 GLUR6 5

Glutamate receptor 7 GLUR7 5

Glutamate receptor, ionotropic, NMDA 1 NMDAR1 5

Glutamate receptor, ionotropic, NMDA 2A NMDAR2A 5

Glutamate receptor, ionotropic, NMDA 2B NMDAR2B 5

Glutamate receptor, ionotropic, NMDA 2C NMDAR2C 5

Glutamate receptor, ionotropic, NMDA 2D NMDAR2D 5

Glutamate-cysteme ligase GLCLC

Glutaryl-CoA dehydrogenase GCDH

GlutatMone GSH

GlutatMone S-transferase, GSTZI GSTZI

GlutatMone synthetase GSS

Glyceraldehyde-3 -phosphate GAPDH dehydrogenase, GAPDH

Glycerol kinase GK

GlycMamide ribonucleotide (GAR) GART tiansformylase

Glycine dehydrogenase GLDC 1

Glycine receptor, alpha GLRA2 5

Glycine receptor, beta 5

Glycine transporter GLYT 5 Glycogen phosphorylase PYGL 1

GM2 ganglioside activator protem, GM2A GM2A 1

Gonadotropin releasing hormone receptor GNRHR 6

GTP cylcohydrolase 1 GCH1 6

Guamdinoacetate N-methyltiansferase GAMT 1

Guamne nucleotide-bindMg protem, alpha GNA01 5 activating activity polypeptide, GNAO

Guamne nucleotide-bindmg protein, alpha GNAI1 5 inMbiting activity polypeptide 1, GNAJ1

Guamne nucleotide-bmding protein, alpha GNAI2 5 inMbiting activity polypeptide 2, GNAI2

Guamne nucleotide-binding protein, alpha GNAI3 5 inMbiting activity polypeptide 3, GNAI3

Guamne nucleotide-binding protem, alpha GNAS1 5 stimulating activity polypeptide, GNAS1

Guamne nucleotide-bindmg protem, alpha GNAS2 5 stimulating activity polypeptide, GNAS2

Guamne nucleotide-bindmg protein, alpha GNAS3 5 stimulating activity polypeptide, GNAS3

Guamne nucleotide-bmding protein, alpha GNAS4 5 stimulating activity polypeptide, GNAS4

Guamne nucleotide-binding protein, alpha GNATI 5 transducing activity polypeptide, GNATI

Guamne nucleotide-bindMg protein, alpha GNAT2 5 tiansducmg activity polypeptide, GNAT2

Guamne nucleotide-bmding protein, beta GNB3 5 polypeptide 3

Guamne nucleotide-binding proteM, gamma GNG5 5 polypeptide 5

Guamne nucleotide-binding protein, q GNAQ 5 polypeptide

Guanylate cyclase 2D, membrane (retina- GUCY2D 1 specific)

Guanylate cyclase activator 1A (retina) GUCA1A 1

Guanylate kinase 1

Guanylyl cyclase 1

Gustducin, alpha (taste-specific G protein) GDCA 5

Haeme regulated inMbitor Idnase 1

Haemoglobin alpha 1 HBA1 2

Haemoglobm alpha 2 HBA2 2

Haemoglobin beta HBB 2

Haemoglobin delta HBD 2

Haemoglobin gamma A HBG1 2

Haemoglobin gamma B HBG2 2

Haemoglobm gamma G HBGG 2

Heat shock protein, HSP60 4

Heat shock protein, HSP70 4 Heat shock protem, HSP90 4

Heat shock proteM, HSPAL 4

Heat shock protem, HSPA2 4

Heparan sulfamidase 1

Heparin bmdMg epidermal growth factor HBEGF 6

Heparin Cofactor II HCF2 4

Hepatic lipase LIPC 1

Hexosamimdase A HEXNTSD 1

Hexosammidase B HEXB 1

Hippocampal cholmergic neurostimulating peptide, HCNP 5

Histamme receptors, Hl 5

Histamine receptors, H2 5

Histamme receptors, H3 5

Histidase 1

HLA-B associated tianscript 1 BAT1 4

HLH tianscription factor HAND1 HAND1 6

HLH tianscription factor HAND2 HAND2 6

HMG-CoA lyase HMGCL 1

HMG-CoA reductase HMGCR 1

Holocarboxylase synthetase HLCS 1

Homeobox HB9 HLXB9 6

Human atonal gene ATOH1 6

HypoxantMne-guamne HPRT 1 phosphoribosyltransferase, HGPRT

Hypoxia inducible factor 1 HIFIA 1

Hypoxia inducible factor 2 1

IC7 A and B

Inositol 1,4,5-tiiphosphate receptor I ITPR1 6

Inositol monophosphatase IMPA1 5

Inositol polyphosphate 1 -phosphatase INPP1 5

Msulin INS 6

Insulin receptor INSR 6

Insulin-like growth factor 1 IGF1 6

Msulin-like growth factor 1 receptor IGF1R 6

Insulin-like growth factor 2 IGF2 6

Insulin-like growth factor 2 receptor IGF2R 6

Integrin beta 1 ITGB1 6

Integrin beta 2 ITGB2 6

Integrin beta 3 ITGB3 6

Integrin, alpha 1 ITGA1 6

Mtegrin, alpha M ITGAM 6

Mter-alpha-trypsm inMbitor, IATI 1

Mterleukin(IL) 1 receptor IL1 R 4

Interleukin(IL) 1, alpha IL1A 4

Mterleukin(IL) 1, beta IL1B 4

MterleukM(IL) 10 IL10 4

Interleukin(IL) 10 receptor IL10R 4 Mterleukin(IL) 11 IL11 4

Interleukin(IL) 11 receptor IL11R 4

InterleukM(IL) 12 IL12 4

InterleukM(IL) 12 receptor, beta 1 IL12RB1 4

MterleukM(IL) 13 IL13 4

MterleukM(IL) 13 receptor IL13R 4

MterleukM(IL) 2 IL2 4

Intem(IL) 2 receptor, alpha IL2RA 4

Interleukin(IL) 2 receptor, gamma IL2RG 4

InterleukMQL) 3 IL3 4

InterleukM(IL) 3 receptor IL3R 4

Mterleukin(IL) 4 IL4 4

Interleukin(IL) 4 receptor IL4R 4

Mterleukin(IL) 5 IL5 4

Interleu_dn(IL) 5 receptor IL5R 4

Interleukin(IL) 6 IL6 4

MterleuMn(IL) 6 receptor IL6R 4

Mterleukin(IL) 7 IL7 4

Interleuldn(IL) 7 receptor IL7R 4

Interleukin(IL) 8 IL8 4

Mterleukin(IL) 8 receptor IL8R 4

Mterleukin(IL) 9 IL9 4

Mterleukin(IL) 9 receptor IL9R 4

Interleukin(IL) receptor antagomst 1 IL1RN, IL1RA 4

IP3 Idnase 1

Isovaleric acid CoA dehydrogenase IVD 1

Kallikrein 3 KAK3 4

Kallman syndrome gene 1 KALI 6

Ketohexokinase KHK 1

Kimnogen, High molecular weight KNG 4

Kynuremnease 1

Ll cell adhesion molecule L1CAM 5

Lamimn 5, alpha 3 LAMA3 6

Lamimn 5, beta 3 LAMB3 6

Lamimn 5, gamma 2 LAMC2 6

Lamimn M LAMM 6

Lammin receptor I LAMR1 6

Latent tiansforming growth factor-beta LTBP2 6 binding protem 2

Leptin LEP 6

Leptin receptor LEPR 6

Leukaemia Mbitory factor LIF 6

Leukaemia inMbitory factor receptor LIFR 6

Leuk 4

Leukocyte-specific tianscript 1 LST-1 4

Leukotriene A4 hydrolase 4

Leukotriene A4 synthase LTA4S 1 Leukotriene B4 receptor 4

Leukotriene B4 synthase LTB4S 1

Leukotriene C4 receptor 4

Leukotriene C4 synthase LTC4S 1

Leukotriene D4/E4 receptor 4

LIM homeobox proteM 1 LHX1 6

LIM homeobox protein 2 LHX2 6

LIM homeobox protein 3 LHX3 6

LIM homeobox proteM 4 LHX4 6

Limbic associated membrane protein LAMP 6

LIM-domain oMy protein 1 LM01 6

LIM-domain oMy protein 2 LM02 6

LIM-domam oMy protein 3 LM03 6

LIM-domain oMy protein 4 LM04 6

LIM-Kinase I (LINK-I) 4

Lipoprotein receptor, Low Density LDLR 2

Lipoprotein, High Density HDLDT1 2

Lipoprotein, Intermediate Density 2

Lipoprotein, Low Density 1 2

Lipoprotein, Low Density 2 2

Lipoprotein, Very Low Density VLDLR 2

Low density lipoprotein receptor-related LRP 2 protein precursor

Lymphoid enhancer-bindmg factor LEF-1 6

MAD (mothers against decapentaplegic, MADH4 6

DrosopMla) homologue 4

Malonyl CoA decarboxylase 1

Mannosidase, alpha B lysosomal MANB 1

Mannosidase, beta A lysosomal MANBA 1

Marenostrin MEFV 2

Melatomn receptor 1 A MTNRLA 5

Melatomn receptor 1 B MTNRLB 5

Methylguamne-DNA methyltiansferase MGMT 1

Methylmalonyl-CoA mutase MUT 1

Mevalonate Idnase MVK 1

Microsomal tiiglyceride transfer protein MTP 2

MicroMble associated protein MAP 3

Mismatch repair gene, PMSL2 PMS2 6

Molybdenum cofactor synthesis 1 MOCS1 1

Molybdenum cofactor synthesis 2 MOCS2 1

Monoamme oxidase A MAOA 1

Monoamine oxidase B MAOB 1

Msh homeobox homolog 2 MSX2 6

Mucolipidoses GNPTA 1

Muscarimc receptor, Ml CHRM1 5

Muscarmic receptor, M2 CHRM2 5

Muscarimc receptor, M3 CHRM3 5 Muscarimc receptor, M4 CHRM4 5

Muscarimc receptor, M5 CHRM5 5

Myelin protein peripheral 22 PMP22 3

Myelin protein zero MPZ 3

Myogemc factor 3 MYF3 6

Myogemc factor 4 MYF4 6

Myogemc factor 5 MYF5 6

Myosin 6 MY06 3

Myosin 7A MY07A 3

Myotubularin MTMI 3

Na+, K+ ATPase, alpha ATP1A1 6

Na+, K+ ATPase, beta 1 ATP1B1 6

Na+, K+ ATPase, beta 2 ATP1B2 6

Na+, K+ ATPase, beta 3 ATP1B3 6

N-acetylglucosamine-6-sulfatase GNS 1

N-acetylglucosamimdase, alpha NAGLU 1

NADH dehydrogenase 1 reductase

NB6 4

Nebulin NEB 3

Necdin NDN 6

Nerve growth factor NGF 6

Nerve growth factor receptor NGFR 6

Neural retina-specific gene NRL 6

Neurammidase sialidase NEU 2

Neuregulm HGL 6

Neurite growth-promoting factor 2 MDK 5

Neurite inMbitory protein 5

NeuroendocrMe convertase 1 NEC1, PCSKI 1

Neurofibromin I NF1 6

Neurofibromin 2 NF2 6

Neurofilament protein, heavy NFH 3

Neurofilameht protein, NF68 NF68 3

NeurokMin A NKNA 5

Neurokimn B NKNB 5

Neuronal apoptosis inMbitory protein NAEP 4

Neuronal molecule- 1 4

Neuronal molecule- 1 receptor 4

Neuropeptide Y NPY 5

Neuropeptide Y receptor Yl NPY1R 5

Neuropeptide Y receptor Y2 NPY2R 5

Neurotensin NTS 5

Neurotensin receptor NTSR1 5

Neutral endopeptidase 1

Niemann-Pick disease protem NPC1 2

Nitric oxide synthase 1, NOSl NOSl 1

Nitric oxide synthase 2, NOS2 NOS2 1 Nitiic oxide synthase 3, NOS3 NOS3 1

Notch 1 NOTCH1 6

Notch 2 NOTCH2 6

Notch 3 NOTCH3 6

Notch ligand - jagged 1 JAG 1. AGS 6

Nuclear factor I-kappa-B-like gene IKBL 4

Nucleoside diphosphate kinase-A NDPKA 1

Oncogene bcl2 6

Oncogene GLI I GLI 6

Oncogene GLI2 GLI2 6

Oncogene GLI3 GLI3 6

Oncogene sis PDGFB 6

Opioid receptor, delta OPRD1 5

Opioid receptor, kappa OPRK1 5

Opioid receptor, mu OPRM1 5

OmitMne delta-aminotiansferase OAT 1

OmitMne transcarbamoylase OTC, NME1 1

Orthodenticle (DrosopMla) homolog I OTX1 6

Orthodenticle (DrosopMla) homolog 2 OTX2 6

Otoferlin OTOF 5

Paired box homeotic gene 2 PAX2 6

Paired box homeotic gene 3 PAX3 6

Palmitoyi-protein tMoesterase PPT 2

Parkin PARK2 5

Patched (DrosopMla) homolog, PTCH PTCH 6

Peanut-like 1 PNUTLL 4

PeptidylglyCihe alpha-amidating PAM 1 monooxygenase

Peripherin, PRPH 3

Peroxisomal membrane proteM 1 PXMP1 3

Peroxisomal membrane protein 3 PXMP3 2

Peroxisome biogenesis factor 1 PEX1 2

Peroxisome biogenesis factor 19 PEX19 2

Peroxisome biogenesis factor 6 PEX6 2

Peroxisome biogenesis factor 7 PEX7 2

Peroxisome receptor 1 PXR1 2

Persyn 3

Phosphate regulating gene with homologies PHEX 6 to endopeptidases on the X cMomosome

Phosphatidylinositol transfer protem PITPN 6

Phosphoglucose isomerase GPI 1

Phosphoglycerate Idnase I PGKL 1

Phospholipase A2, group 10 PLA2G I 0 4

Phospholipase A2, group IB PLA2G1B 4

Phospholipase A2, group 2A PLA2G2A 4

Phospholipase A2, group 2B PLA2G2B 4

Phospholipase A2, group 4A PLA2G4A 4 Phospholipase A2, group 4C PLA2G4C 4

Phospholipase A2, group 5 PLA2G5 4

Phospholipase A2, group 6 PLA2G6 4

Phospholipase C alpha 4

Phospholipase C beta 4

Phospholipase C delta PLCD1 4

Phospholipase C epsilon 4

Phospholipase C gamma PLCG1 4

Phosphomannomutase 2 PMM2 6

Phosphoribogyl pyrophosphate synthetase PRPS1 1

Phytanoyi-CoA hydroxylase PHYH 6

PlakopMlin 1 PKP1 2

Plasmmogen PLG 1

Plasminogen activator inMbitor 1 PAI 1 1

Plasminogen activator inMbitor 2 PAI2 1

Plasminogen activator receptor, Urokinase UPAR, PLAUR 3

Plasminogen activator, Tissue PLAT, TPA 1

Plasminogen activator, UrokMase UPA, PLAU 1

Platelet derived growth factor PDGF 6

Platelet derived growth factor receptor PDGFR 6

Platelet-activating factor receptor PAFR 4

Plectin 1 PLEC1 2

Postsynaptic density-95 proteM PSD95 5

Potassium channel, calcium-activated KCNN4 5

Potassium channel, subfamily K, member 1 KCNK1 5

Potassium channel, subfamily K, member 2 KCNK2 5

Potassium channel, subfamily K, member 3 KCNK3 5

Potassium inwardly-rectifymg channel J 1 KCNJ1 5

Potassium voltage-gated channel AI KCNA1 5

Potassium voltage-gated channel El KCNE1 5

Potassium voltage-gated channel Ql KCNQl 5

Potassium voltage-gated channel Q2 KCNQ2 5

Potassium voltage-gated channel Q3 KCNQ3 5

Potassium voltage-gated channel Q4 KCNQ4 5

POU domam, class 1, tianscription factor 1 POUIFI 6

(Pitl)

POU domain, class 3, tianscription factor 4 POU3F4 6

POU domam, class 4, tianscription factor 3 POU4F3 6

Prekallikrein 4

Preproenkephalin PENK 5

PresemtM PSEN1 2

Presemlm 2 PSEN2 2

Prion protem PRNP 5

Procollagen N-protease 1

Proline dehydrogenase PRODH 1

Pro-melamn-concentrating hormone PMCH 6

Proopiomelanocortin POMC 5 Prosapos PSAP 5

Prostacyclin synthase 4

Prostaglandm 15-OH dehydrogenase HGPD, PGDH 4

Prostaglandin D - DP receptor 4

Prostaglandin El receptor 4

Prostaglandin E2 receptor 4

Prostaglandin E3 receptor 4

Prostaglandin F - FP receptor 4

Prostaglandin 12 receptor 2

Prostaglandin IP receptor 4

Protease nexin 2 PN2 1

Protective protein for beta-galactosidase PPGB 1

Protein C PROC 4

Protein C inMbitor PCI 4

Protem Idnase C, alpha PRKCA 1

Protem kinase C, gamma PRKCG 1

Protein kinase G 1

Protein phosphatase 1, regulatory (inMbitor) PPP1R3 1 subimit 3

Protein S PROS1

ProtMombin precursor F2

Purine nucleoside phosphorylase NP 1

Pyrroline-5-carboxylate synthetase PYCS 1

Pyruvate carboxylase PC 1

Pyruvate decarboxylase PDHA 1

Ras-G-protein RAS 6

Rathke pouch homeobox, RPX RPX 6

Remn REN 1

Replication factor C RFC2 1

Retinal pigment epithelium specific protein RPP65 3

(65kD)

Retinaldehyde binding protein 1 RLBP1 2

Retinoblastoma 1 RB1 6

Rhodopsin Idnase RHOK 1

RIGUI RIGUI 6

S100 calcium-bmding protein A3 S I00A3 5

S100 calcium-bindmg protein A4 S100A4 5

S100 calcium-bindmg protein A5 S100A5 5

S100 calcium-bmdmg protein A7 S100A7 5

S100 calcium-binding protein A8 S100A8 5

S100 calcium-binding proteM A9 S100A9 5

S100 calcium-bMdmg proteM P S100P 5

Secretase, alpha 5

Secretase, beta 5

Secretase, gamma 5

Selectin E SELE 5

Selectin L SELL 5 Selectin P SELP 5

Semaphorin A4 SEMA4 3

Semaphorin A5 SEMA5 3

Semaphorin D 3

Semaphorin E SEMAE 3

Semaphorin F SEMA3/F 3

Semaphorin W SEMAW 3

Serotomn N-acetyltransferase SNAT 1

Serotomn receptor, 5HT1 A HTRIA 5

Serotomn receptor, 5HT1B HTRIB 5

Serotomn receptor, 5HT1C HTRLC 5

Serotomn receptor, 5HT1D HTRL D 5

Serotomn receptor, 5HT1E HTRI E 5

Serotomn receptor, 5HT1F HTRL F 5

Serotomn receptor, 5HT2A HTR2A 5

Serotomn receptor, 5HT2B HTR2B 5

Serotomn receptor, 5HT2C HTR2C 5

Serotomn receptor, 5HT3 HTR3 5

Serotomn receptor, 5HT4 HTR4 5

Serotomn receptor, 5HT5 HTR5 5

Serotomn receptor, 5HT6 HTR6 5

Serotomn receptor, 5HT7 HTR7 5

Signaling lymphocyte activation molecule SLAM 4

Slug proteM 6

Small nuclear ribonucleoprotein polyj _eptide SNRPN 3

N

Sodium channel, non-voltage gated 1, alpha SCNNIA 5

Sodium channel, non-voltage gated 1, beta SCNNIB 5

Sodium channel, non-voltage gated 1, SCNNIG 5 gamma

Sodium channel, voltage gated, type IV, SCN4A 5 alpha polypeptide

Sodium channel, voltage-gated, type ] l, beta SCNLB 5 polypeptide

Solute carrier family 1 (amino acid SLC1A6 2 tiansporter), member 6

Solute carrier family 1 (glial Mgh affimty SLC1A3 2 glutamate tiansporter), member 3

Solute carrier family 1 (glutamate SLC1A1 2 tiansporter), member 1

Solute carrier family 1 (glutamate SLC1A2 2 tiansporter), member 2

Solute carrier family 12, member 1 SLC12A1 2

Solute carrier family 12, member 2 SLC12A2 2

Solute carrier family 12, member 3 SLC12A3 2

Solute carrier family 16 (monocarboxylate SLC16A1 2 tiansporter), member 1 Solute carrier family 16 (monocarboxylate SLC16A7 2 tiansporter), member 7

Solute carrier family 18, member 3 SLC18A3 2

Solute carrier family 2 (facilitated glucose SLC2A1 2 tiansporter), member I

Solute carrier family 20, member 3 SLC20A3 2

Solute carrier family 25, member 12 SLC25A12 2

Solute carrier family 4 (amon exchangers, SLC4A1 2 member 1

Solute carrier family 4 (amon exchanger), SLC4A2 2 member 2

Solute carrier family 4 (amon exchanger), SLC4A3 2 member 3

Solute carrier family 5 (sodium/glucose SLC5A1 2 tiansporter), member I

Solute carrier family 5 (sodium/glucose SLC5A2 2 transporter), member 2

Solute carrier family 5 (sodium/glucose SLC5A5 2 transporter), member 5

Solute carrier family 5, member 3 SLC5A3 2

Solute carrier family 6 (GAMMA- SLC6A1 2

AMINOBUTYRIC ACID transporter), member

1

Solute carrier family 6 (neurotiansmitter SLC6A3 2 tiansporter, dopamine), member 3

Solute carrier family 6 (neurotiansmitter SLC6A2 2 transporter, noradrenaline), member 2

Solute carrier family 6 (neurotiansmitter SLC6A4 2 transporter, serotomn), member 4

Solute carrier family 6, member 6 SLC6A6 2

Solute carrier family 7(amino acid SLC7A1 2 tiansporter), member 1

Solute carrier family 7(amMo acid SLC7A2 2 tiansporter), member 2

Solute carrier family 7(amino acid SLC7A7 2 tiansporter), member 7

Somatostatin SST 5

Somatostatin receptor, SSTRl SSTRl 5

Somatostatin receptor, SSTR2 SSTR2 6

Somatostatin receptor, SSTR3 SSTR3 5

Somatostatin receptor, SSTR4 SSTR4 5

Somatostatin receptor, SSTR5 SSTR5 5

Spastic paraplegia 7 SPG7 6

Spectrin beta SPTB 3

Spbingomyelmase SMPDl 1

Spinocerebellar ataxia 8 gene SCA8 5

SRY-box 11 SOXll 6 Steroid 5 alpha reductase 1 SRD5AI 1

Steroid 5 alpha reductase 2 SRD5A2 1

Steroid sulphatase STS 1

Substance P 5

Succimc semi-aldehyde dehydrogenase SSADH 1

Sulfamidase SGSH 6

Sulfite oxidase SUOX 1

Superoxide dismutase 1 SOD1 1

Superoxide dismutase 3 SOD3 1

Surfeit 1 SURF1 6

Survival of motor neuron 1, telomeric SMN1 2

Synapsin la & lb SYN1 5

Synapsin 2a & 2b SΫN2 5

Synaptic vesicle amine transporter SVAT 5

Synaptic vesicle proteM 2 SV2 5

Synaptobrevin 1 SYB1 5

Synaptobrevin 2 SYB2 5

Synaptogyrin 5

Synaptophysm SYP 5

Synaptosomal-associated protem, 25KD SNAP25 5

Synaptotagmin 1 SYT1 5

Synaptotagmin 2 SYT2 5

Syntaxin 1 STX1 5

Tachykimn receptor, NK1R TACR1 5

Tachykimn receptor, NK2R TACR2 5

Tachykimn receptor, NK3R TACR3 5

Talin TLN 6

Tau protein MAPT 3

TEK, tyrosine kinase, endothelial TEK 1

Telomerase protein component 1

TMolase, perioxisomal 1

TMombin receptor F2R 4

TMombopoietin THPO 6

TMomboxane A synthase 1 TBXAS1 4

TMomboxane A2 TXA2 4

TMomboxane A2 receptor TBXA2R 4

Thy-1 T-cell antigen THY1 4

Thyroxin-bmding globulm TBG 2

Tocopherol (alpha) transfer protein TTPA 2

Topoisomerase I 1

Tofticollis, keloids, cryptorcMdism and renal TKCR 6 dysplasia gene

Transacylase 1

Transferrin receptor TFRC 6

Transforming growth factor, beta 2 TGFB2 6

Transformmg growth factor, beta mduced TGFB1 6

TransformMg growth factor, beta receptor 2 TGFBR2 6 Transketolase-like 1 TKTL1 1

Transthyretin TTR 2

Tremor, essential 1 ETM1 5

Tremor, essential 2 ETM2 5

Triosephosphate isomerase TPI1 1

Tropomyosin 3 (non-muscle) TPM3 3

Tryptophan hydroxylase TPH 1

Tubby-like protein 1 TULP1 6

Tuberous sclerosis 1 TSC1 6

Tuberous sclerosis 2 TSC2 6

Tumour necrosis factor (TNF) receptor TRAF1 4 associated factor 1

Tumour necrosis factor (TNF) receptor TRAF2 4 associated factor 2

Tumour necrosis factor (TNF) receptor TRAF3 4 associated factor 3

Tumour necrosis factor (TNF) receptor TRAF4 4 associated factor 4

Tumour necrosis factor (TNF) receptor TRAF5 4 associated factor 5

Tumour necrosis factor (TNF) receptor TRAF6 4 associated factor 6

Tumour necrosis factor alpha TNFA 4

Tumour necrosis factor alpha receptor TNFAR 4

Tumour necrosis factor beta TNFB 4

Tumour necrosis factor beta receptor TNFBR 4

Tumour protein p53 TP53,P53 6

Tumour protein p73 TP73 6

Tyrosine aminotransferase TAT 1

Tyrosine hydroxylase TH 1

Ubiquitin 6

Ubiquitin B UBB 6

Ubiquitin C UBC 6

Ubiquitin carboxyl-terminal esterase Ll UCHL1 6

UDP-glucuronosyltransferase 1 ugtld, UGTL 1

UDP-glucuronosyltransferase 2 UGT2 1

Urate oxidase UOX 1

Uridinediρhosphate(UDP)-galactose-4- GALE 1 epimerase

Uropo hyrinogen III synthase UROS 1

Usher syndrome 2A USH2A 3

Vacuolar proton pump, subimit 1 VPP1 5

Vacuolar proton pump, subunit 3 VPP3 5

Vasoactive intestinal polypeptide VIP 5

Vasoactive Mtestmal polypeptide receptor VIPR 5

Vesicular monoarmne transporter 1 VMAT1 5

Vesicular monoamme transporter 2 VMAT2 5 Vitamin B12-bindmg (R) protein 6

Von Hippel-LMdau gene VHL 6

Wolf-Hirschhom syndrome candidate I gene WHSCl 6

Wolfram syndrome 1 gene WFSl 3

XantMne dehydrogenase XDH 1

Xeroderma pigmentosum, complementation XPA 1 group A

Zmc finger protein 2 ZIC2 3

dass die mit aggressiven Symptomen oder Verhaltensstörungen in Zusammenhang stehenden Gene ausgewäMt sMd aus:

Liste der Gene HUGO Protem-

Gensymbol fimktion

11 beta Hydroxysteroid dehydrogenase 2 HSD11B2 1

4-Hydroxyphenylpyravate dioxygenase HPD 1

Acetylcholine receptor, nicotimc, alpha AI CHRNAl 5

Acetylcholme receptor, nicotimc, alpha A2 CHRNA2 5

Acetylcholine receptor, nicotimc, alpha A3 CHRNA3 5

Acetylcholine receptor, nicotimc, alpha A4 CHRNA4 5

Acetylcholine receptor, nicotimc, alpha A5 CHRNA5 5

Acetylcholine receptor, nicotmic, alpha A6 CHRNA6 5

Acetylcholine receptor, nicot ic, alpha A7 CHRNA7 5

Acetylcholme receptor, nicotimc, beta 1 CHRNB1 5

Acety choline receptor, mcotimc, beta 2 CHR B2 5

Acetylcholine receptor, nicotimc, beta 3 CHRNB3 5

Acetylcholine receptor, nicotimc, beta 4 CHRNB4 5

Acetylcholine receptor, nicotimc, epsilon CHRNE 5

Acetylcholine receptor, nicotMic, gamma CHRNG 5

Acetylcholmesterase ACHE

Adenylate cyclase 1 ADCY1

Adeny ate cyclase 2 ADCY2

Adenylate cyclase 3 ADCY3

Adenylate cyclase 4 ADCY4

Adenylate cyclase 5 ADCY5

Adenylate cyclase 6 ADCY6

Adenylate cyclase 7 ADCY7

Adenylate cyclase 8 ADCY8

Adenylate cyclase 9 ADCY9 alpha-SynucleM SNCA 5

Amyloid beta A4 precursor protem APP 5

Amyloid beta A4 precursor-like protem APLP 5

Androgen binding protein ABP 2

Androgen receptor AR 6 Apolipoprotein E APOE 2

ArgmosuccMate synthetase ASS 1

Ataxia telangiectasia gene, AT ATM 6 beta-synuclem SNCB 5

Ca(2+) tiansporting ATPase, slow twitch ATP2A2 2

Cannabinoid receptor CNR1 5

Carbomc anhydrase 3 CA3

Carbomc anhydrase 4 CA4

Carbomc anhydrase, alpha CA1

Carbomc anhydrase, beta CA2

Catechol-o-methyltransferase COMT

Cholecystokimn CCK 5

Cholecystokimn B receptor CCKBR 5

Choline acetyltiansferase CHAT 1

Ciliary neurotropMc factor (CNTF) CNTF 6

Ciliary neurotropMc factor (CNTF) receptor CNTFR 6

CorticotiopMn-releasing hormone CRH 2

CorticotiopMn-releasing hormone receptor CRHR1 2

CryptocMome 1 CRY1 3

CryptocMome 2 CRY2 3

Cu2+ transportmg ATPase beta polypeptide ATP7B

Cyclic AMP-dependent protein Idnase PKA

Cyclooxygenase 1 COX1

Cyclooxygenase 2 COX2

CYP11A1 CYP11A1

CYP11B1 CYP11B1

CYP11B2 CYP11B2

CYP17 CYP17

CYP19 CYP19

CYPIAI CYPIAI

CYPIA2 CYPIA2

CYP1B1 CYP1B1

CYP21 CYP21

CYP24 CYP24

CYP27 CYP27

CYP27B1 PDDR

CYP2A1 CYP2A1

CYP2A13 CYP2A13

CYP2A3 CYP2A3

CYP2A6V2 CYP2A6V2

CYP2A7 CYP2A7

CYP2B6 CYP2B6

CYP2C18 CYP2C18

CYP2C19 CYP2C19

CYP2C8 CYP2C8

CYP2C9 CYP2C9

CYP2D6 CYP2D6 CYP2E1 CYP2E1

CYP2F1 CYP2F1

CYP2J2 CYP2J2

CYP3A3 CYP3A3

CYP3A4 CYP3A4

CYP3A5 CYP3A5

CYP3A7 CYP3A7

CYP4A11 CYP4A11

CYP4B1 CYP4B1

CYP4F2 CYP4F2

CYP4F3 CYP4F3

CYP51 CYP51

CYP5A1 CYP5A1

CYP7A CYP7A

CYP8 CYPB

CystatMonase CTH

CystatMone beta synthase CBS

Cytidine deaminase CDA

Cytidine-5-prime-triphosphate synthetase CTPS

CytocMome a

CytocMome c

CytocMome c oxidase, MTCO

Dihydrolipoamide branched chain tiansacylase DBT 5

Dopamine beta hydroxylase DBH 1

Dopamine receptors Dl DRD1 5

Dopamine receptors D2 DRD2 5

Dopamine receptors D3 DRD3 5

Dopamine receptors D4 DRD4 5

Dopamine receptors D5 DRD5 5

Doublecortin, DCX DCX 3

Enolase EN01 1

Flightless-II, DrosopMla homolog of FLII 6

Fragile site, folic acid type, rare, fia(X) A FRAXA 5

Fragile site, folic acid type, rare. fra(X) E FRAXE 5

Fragile site, folic acid type, rare. fra(X) F FRAXF 5

GABA receptor, alpha 1 GABRA1 5

GABA receptor, alpha 2 GABRA2 5

GABA receptor, alpha 3 GABRA3 5

GABA receptor, alpha 4 GABRA4 5

GABA receptor, alpha 5 GABRA5 5

GABA receptor, alpha 6 GABRA6 5

GABA receptor, beta 1 GABRB1 5

GABA receptor, beta 2 GABRB2 5

GABA receptor, beta 3 GABRB3 5

GABA receptor, gamma 1 GABRG1 5

GABA receptor, gamma 2 GABRG2 5

GABA receptor, gamma 3 GABRG3 5 Galactose 1 -phosphate uridyl-transferase GALT 1

Gemospasm 1 GSM1 6

GlutatMone GSH 2

GlutatMone S-transferase, GSTZI GSTZI 1

Glyceraidehyde-3 -phosphate dehydrogenase, GAPDH 1

GAPDH

Glycerol kMase GK 1

Glycinamide ribonucleotide (GAR) GART 1 tiansformylase

GM2 ganglioside activator protem, GM2A GM2A 1

Gustducin, alpha (taste-specific G protein) GDCA 5

Mositol monophosphatase IMPA1 5

IP3 Idnase 1

Mannosidase, beta A lysosomal MAN1A 1

Melatomn receptor 1 A MTNR1A 5

Melatomn receptor 1 B MTNR1B 5

Monoamine oxidase A MAOA 1

Monoamine oxidase B MAOB 1

Muscarimc receptor, Ml CHRM1 5

Muscarimc receptor, M2 CHRM2 5

Muscarimc receptor, M3 CHRM3 5

Muscarimc receptor, M4 CHRM4 5

Muscarimc receptor, M5 CHRM5 5

N-acetylglucosamine-6-sulfatase GNS 1 reductase

Neurokimn A NKNA 5

Neurokimn B NKNB 5

Neuropeptide Y NPY 5

Neuropeptide Y receptor Yl NPY1R 5

Neuropeptide Y receptor Y2 NPY2R 5

Neurotensin NTS 5

Neurotensin receptor NTSR1 5

Nitric oxide synthase 1, NOSl NOSl 1

Nitric oxide synthase 2, NOS2 NOS2 1

Nitiic oxide synthase 3, NOS3 NOS3 1

Ocular albimsm 1 OA1 3

Opioid receptor, delta OPRD1 5

Opioid receptor, kappa OPRK1 5

Opioid receptor, mu OPRM1 5

Orexin OX 6

Orexin 1 receptor OX1R 6

Orexm 2 receptor OX2R 6

Phosphoglycerate kMase 1 PGK1 1

Potassium mwardly-rectifying channel Jl KCNJ1 5

Potassium voltage-gated channel El KCNE1 5

Potassium voltage-gated channel Ql KCNQl 5

PreproenkephalM PENK 5 Preproglucagon GCG,GLP1,GLP2 6

Prion protein PRNP 5

Proline dehydrogenase PRODH 1

Pro-melanM-concentrating hormone PMCH 6

Proopiomelanocortin POMC 5

Purine nucleoside phosphorylase NP 1

RIGUI RIGUI 6

Serotomn N-acetyltransferase SNAT

Serotomn receptor, 5HT1 A HTR1A 5

Serotomn receptor, 5HT1B HTR1B 5

SerotonM receptor, 5HT1C HTR1C 5

Serotomn receptor, 5HT1D HTR1D 5

Serotomn receptor, 5HT1E HTR1E 5

Serotomn receptor, 5HT1F HTR1F 5

Serotomn receptor, 5HT2A HTR2A 5

Serotomn receptor, 5HT2B HTR2B 5

Serotomn receptor, 5HT2C HTR2C 5

Serotomn receptor, 5HT3 HTR3 5

Serotomn receptor, 5HT4 HTR4 5

Serotomn receptor, 5HT5 HTR5 5

SerotonM receptor, 5HT6 HTR6 5

Serotomn receptor, 5HT7 HTR7 5

Solute carrier family 18, member 3 SLC18A3 2

Solute carrier family 6 (GAMMA- SLC6A1 2

AMINOBUTYRIC ACID transporter), member 1

Solute carrier family 6 (neurotransmitter SLC6A3 2 transporter, dopamMe), member 3

Solute carrier family 6 (neurotiansmitter SLC6A2 2 tiansporter, noradrenaline), member 2

Solute carrier family 6 (neurotransmitter SLC6A4 2 transporter, serotomn), member 4

Synapsm la & 1 b SYN1 5

Synapsin 2a & 2b SYN2 5

Synaptogydn 5

Synaptophysin SYP 5

Synaptosomal-associated protein, 25KD SNAP25 5

Syntaxin 1 STxl 5

Tachykimn receptor, NKIR TACR1 5

Tachykimn receptor, NK2R TACR2 5

Tachykimn receptor, NK3R TACR3 5

Tau proteM MAPT 3

Tryptophan hydroxylase TPH 1

Tyrosine hydroxyiase TH 1

Ubiquitin 6

Ubiquitin B UBB 6

Ubiquitin C UBC 6

UDP-glucuronosyltiansferase 1 ugtld, UGT1 1 UDP-glucuronosyltransferase 2 UGT2 1 Vacuolar proton pump, subumt 1 VPPI 5 Vacuolar proton pump, subumt 3 VPP3 5 Vasoactive mtestmal polypeptide VIP 5 Vasoactive intestinal polypeptide receptor VIPR 5

dass die mit den Folgen von klimschen, psychologischen und sozialen Konsequenzen einer GeMrnverletzung in Zusammenhang stehenden Gene ausgewäMt sind aus:

Liste der Gene HUGO Protein-

Gensymbol funktion

2,3-bisphosphoglycerate mutase BPGM 1

3 -beta hydroxysteroid dehydrogenase 2 HSD3B2 1

4-hydroxyphenylpyruvate dioxygenase HPD 1

5,10-methylenetetrahydrofolate reductase MTHFR 1

(NNDPH)

6-pymvoyltetrahydropterin synthase PTS 1

Acetoacetyl 2-CoA-tMolase ACAT2 1

Acetyl CoA acyltransferase ACAA 1

Acetylcholine receptor, nicotimc, alpha AI CHRNAL 5

Acetylcholine receptor, nicotimc, alpha A2 CHRNA2 5

Acetylcholine receptor, nicotimc, alpha A3 CHRNA3 5

Acetylcholine receptor, nicotimc, alpha A4 CHRNA4 5

Acetylcholine receptor, nicotimc, alpha A5 CHRNA5 5

AcetylcholMe receptor, nicotimc, alpha A6 CHRNA6 5

Acetylcholine receptor, nicotMic, alpha A7 CHRNA7 5

Acetylcholine receptor, nicotMic, beta 1 CHRNBL 5

Acetylcholine receptor, nicotMic, beta 2 CHRNB2 5

Acetylcholine receptor, nicotimc, beta 3 CHRNB3 5

Acetylcholine receptor, mcotmic, beta 4 CHRNB4 5

Acetylcholme receptor, nicot mc, epsilon CHRNE 5

Acetylcholine receptor, nicotmic, gamma CHRNG 5

Acetylcholinesterase ACHE 1

Adducin, alpha ADDI 3

Adducin, beta ADD2 3

Adenosine receptor AI ADORAL 5

AdenosMe receptor A2A ADORA2A 5

Adenosine receptor A2B ADORA2B 5

Adenosine receptor A3 ADORA3 5

Adenylate cyclase 1 ADCY1 1

Adenylate cyclase 2 ADCY2 1

Adenylate cyclase 3 ADCY3 1 Adenylate cyclase 4 ADCY4

Adenylate cyclase 5 ADCY5

Adenylate cyclase 6 ADCY6

Adenylate cyclase 7 ADCY7

Adenylate cyclase 8 ADCY8

Adenylate cyclase 9 ADCY9

Adrenergic receptor, alphal ADRAL 5

Adrenergic receptor, alpha2 ADRA2 5

Adrenergic receptor, betal ADRBI 5

Adrenergic receptor, beta2 ADRB2 5

Adrenergic receptor, beta3 ADRB3 5

AdrenocorticotropMc hormone (ACTH) ACTHR 6 receptor

Albumin, ALB ALB 2

Aldehyde dehydrogenase 10 ALDH10 1

Aldosterone receptor MLR 6

Alpha 1 acid glycoprotein AAG;AGP 2

Alpha 2 macroglobulin A2M 4 alpha thalassemia gene ATRX 5 alpha 1-antitrypsin Pl 1 alpha 2-antiplasmin PLI 1 alpha-synucleM SNCA 5

Aminomethyltransferase AMT 1

Aminopeptidase P XPNPEP2 1

Amyloid beta (A4) precursor protein-bMding, APBB1 5

APBB1

Amyloid beta A4 precursor protein APP 5

Amyloid beta A4 precursor-like protein APLP 5

Angiopoietin 1 ANGPT1 6

Angiopoietin 2 ANGPT2 6

Angiotensin converting enzyme ACE, DCPI 1

Angiotensin receptor 1 AGTRL 2

Angiotensin receptor 2 AGTR2 2

Angiotensinogen AGT 1

Annexin 1 ANX 1 1

Antidiuretic hormone receptor ADHR 2

AntitMombin III AT3 1

Apolipoprotein A I APOAL 2

Apolipoprotein A II APOA2 2

Apolipoprotein B APOB 2

Apolipoprotem Cl APOCI 2

Apolipoprotem C2 APOC2 2

Apolipoprotein C3 APOC3 2

Apolipoprotein D APOD 2

Apolipoprotein E APOE 2

Apolipoprotein H APOH 2

Apoptosis antigen 1 APTI 4 ArgMase ARG1 1

Argimne vasopressm AVP 5

Argimne vasopressM receptor 1 A AVPR1A 5

Argimne vasopressm receptor 1 B AVPR1B 5

Argimne vasopressM receptor 2 AVPR2 5

Arginosuccmate lyase ASL

Arginosuccmate synthetase ASS

Arylsulfatase A ARSA

Arylsulfatase D ARSD

Arylsulfatase E ARSE

Arylsulfatase F ARSF

Aspartoacylase ASPA

Ataxia telangiectasia gene, AT ATM 6

Atriai natiiuretic peptide ANP 6

Atiial natiiuretic peptide receptor A NPRI 6

Atdal natriuretic peptide receptor B NPR2 6

Atiial natriuretic peptide receptor C NPR3 6

Bagpipe homeobox, drosopMla homolog of, 1 BAPXL 6 beta-synuclein SNCB 5

Bleomycin hydrolase BLMH 1

Bradykimn receptor Bl 1

Bradykimn receptor B2 1

Brain derived neurotrophic factor BDNF 6

Brain derived neurotrophic factor (BDNF) BDNFR 6 receptor

Butyrylcholmesterase BCHE 1

Ca(2+) transporting ATPase, slow twitch ATP2A2 2

Cadherin E CDHI 6

Cadherin EP 6

Cadherin N CDH2 6

Cadherin P CDH3 6

Calbindin CALB1 6

Calbindin D9K CALB3 6

Calcineurin AI CALNAL 1

Calcineurin A2 CALNA2 1

Calcineurin A3 CALNA3 1

Calcineurin B

Calcitomn/Calcitomn gene-related peptide CALCA 5 alpha

Calcium Channel, voltage-dependent, alpha CACNA1F 5

IF subumt

Calcium Channel, voltage-dependent, Alpha- CACNA1B 5

1B (CACNL1A5)

Calcium channel, voltage-dependent, Alpha- CACNA1C 5

1C

Calcium Channel, voltage-dependent, Alpha- CACNA1D 5

1D Calcium Channel, voltage-dependent, Alpha- CACNA1E 5 1E (CACNL1A6)

Calcium Channel, voltage-dependent, Alpha- CACNA2 5 2/delta

Calcium Channel, voltage-dependent, Beta 1 CACNBI 5 Calcium channel, voltage-dependent, Beta 3 CACNB3 5 Calcium channel, voltage-dependent, L type, CACNA1S 5 alpha IS subimit

Calcium channel, voltage-dependent, CACNG2 5 Neuronal, Gamma

Calcium Channel, voltage-dependent, P/Q CACNA1A 5 type, alpha 1A subumt Calcium channel, voltage-dependent, T-type 5 Calmodulin 1 CALM1 6 Cahnodulin 2 CALM2 6 Calmodulm 3 CALM3 6

Calmodulm-dependant protein kinase II CAMK2A 6 Calnexin CANX 6 Calpain CAPN,CAPN3 1 Calretinin CALB2 5

Carbomc anhydrase 3 CA3 1 Carbomc anhydrase 4 CA4 1 Carbomc anhydrase, alpha CA1 1 Carbomc anhydrase, beta CA2 1 Cardiac-specific homeobox, CSX CSX 6 Carnosinase 5 Caspase 1 CASP1 6 Caspase 10 CASP10 6 Caspase 2 CASP2 6 Caspase 3 CASP3 6 Caspase 4 CASP4 6 Caspase 5 CASP5 6 Caspase 6 CASP6 6 Caspase 7 CASP7 6 Caspase 8 CASP8 6 Caspase 9 CASP9 6

Catechol-o-methyltiansferase COMT 1 CD1 CD1 1 CD4 CD4 1

Cell adhesion molecule, mtercellular, LCAM ICAM1 6 Cell adhesion molecule, leukocyte- LECAMl 6 endothelial, LECAM (CD62) Cell adhesion molecule, liver, LCAM LCAM 6 Cell adhesion molecule, neural, NCAMl NCAMl 6 Cell adhesion molecule, neural, NCAM2 NCAM2 6 Cell adhesion molecule, platelet-endothelial, PECAM 6 PECAM Cell adhesion molecule, vascular, VCAM VCAMl 6

Ceroid lipofuscinosis neuronal 2 CLN2 5

Ceroid lipofuscinosis neuronal 3 CLN3 5

Ceroid lipofuscinosis neuronal 4 CLN4 5

Ceroid lipofuscinosis neuronal 5 CLN5 5

Ceroid lipofuscinosis neuronal 6 CLN6 5

Chemokine receptor CXCR4 CXCR 4

Choline acetyltransferase CHAT 1

ChymotrypsMogen 1

Cockayne syndrome gene, CKNI CKNI 6

Cofilin 3

Collagen I alpha 1 COL1A1 3

Collagen I alpha 2 COL1A2 3

Collagen II alpha 1 COL2A1 3

Collagen III alpha 1 COL3A1 3

Collagen TV alpha 1 COL4A1 .3

Collagen IV alpha 2 COL4A2 3

Collagen IV alpha 3 COL4A3 3

Collagen IV alpha 4 COL4A4 3

Collagen IV alpha 5 COL4A5 3

Collagen IV alpha 6 COL4A6 3

Collagen IX alpha 2 COL9A2, EDM2 3

Collagen IX alpha 3 COL9A3 3

Collagen receptor COLR 3

Collagen V alpha 1 COL5A1 3

Collagen V alpha 2 COL5A2 3

Collagen VI alpha 1 COL6A1 3

Collagen VI alpha 2 COL6A2 3

Collagen VI alpha 3 COL6A3 3

Collagen VII alpha l COL7A1 3

Collagen X alpha 1 COL10A1 3

Collagen X alpha 1 COLI 1 AI 3

Collagen XI alpha 2 COL11A2 3

Collagen XVII alpha l COL17A1 3

CorticotiopMn-releasing hormone CRH 2

CorticotropMn-releasing hormone receptor CRHR1 2

Creb bindMg protem CREBBP 6

Cu2+ tiansporting ATPase beta polypeptide ATP7B

Cyclic AMP-dependent protem kinase PKA

Cyclic nucleotide phosphodiesterase 2A3 PDE2A3

Cyclic nucleotide phosphodiesterase 3 A PDE3A

Cyclic nucleotide phosphodiesterase 3B PDE3B

Cyclic nucleotide phosphodiesterase 4A PDE4A

Cyclic nucleotide phosphodiesterase 4C PDE4C

Cyclic nucleotide phosphodiesterase 5 A PDE5A

Cyclic nucleotide phosphodiesterase 6A PDE6A

Cyclic nucleotide phosphodiesterase 6B PDE6B Cyclic nucleotide phosphodiesterase 7 PDE7 1

Cyclic nucleotide phosphodiesterase 8 PDE8 1

Cyclic nucleotide phosphodiesterase 9A PDE9A 1

Cyclooxygenase 1 COX1 1

Cyclooxygenase 2 COX2 1

CYP11A1 CYP11A1 1

CYP11B1 CYP11B1 1

CYP11B2 CYP11B2 1

CYP17 CYP17 1

CYP19 CYP19 1

CYPIAI CYPIAI 1

CYP1A2 CYP1N2 1

CYP1B1 CYP1B1 1

CYP21 CYP21 1

CYP24 CYP24 1

CYP27 CYP27 1

CYP27B1 PDDR 1

CYP2A1 CYP2N1 1

CYP2A13 CYP2N13 1

CYP2A3 CYP2N3 1

CYP2A6V2 CYP2N6V2 1

CYP2A7 CYP2N7 1

CYP2B6 CYP2B6 1

CYP2C18 CYP2C18 1

CYP2C19 CYP2C19 1

CYP2C8 CYP2C8 1

CYP2C9 CYP2C9 1

CYP2D6 CYP2D6 1

CYP2E1 CYP2E1 1

CYP2F1 CYP2F1 1

CYP2J2 CYP2J2 1

CYP3A3 CYP3N3 1

CYP3A4 CYP3N4 1

CYP3A5 CYP3N5 1

CYP3A7 CYP3N7 1

CYP4A11 CYP4N11 1

CYP4B1 CYP4B1 1

CYP4F2 CYP4F2 1

CYP4F3 CYP4F3 1

CYP51 CYP51 1

CYP5A1 CYP5N1 1

CYP7A CYP7A 1

CYP8 CYP8 1

Cystatin B CSTB 2

Cystatin C CST3 2

Cytidine-5-prime-triphosphate synthetase CTPS 1

CytocMome a CytocMome c 1

CytocMome c oxidase, MTCO 1

Cytokine-suppressive antiinflammatory drug- CSBPl 4 bindmg protein 1

Cytokine-suppressive antiinflammatory drug- CSBP2 4

MndMg protein 2

DAXl nuclear receptor DAXl

Deleted m malignant brain tumours 1 DMBTl 6

Delta-7-dehydrocholesterol reductase DHCR7 1

Dihydrolipoamide branched chain DBT 5 tiansacylase

Dihydroxyacetonephosphate acyltiansferase DHAPAT 1

Dopamine beta hydroxylase DBH 1

Dopamine receptors Dl DRD1 5

Dopamine receptors D2 DRD2 5

Dopamme receptors D3 DRD3 5

Dopamme receptors D4 DRD4 5

Dopamme receptors D5 DRD5 5

Dystoma 9 CSE 3

DystropMa myotomca DM,DMPK 1

DystropMa myotomca, atypical DM2 1

DystropMn DMD 3

Ectodermal Dysplasia 1 gene EDI 3

Empty spiracies (drosopMla) homologue 1 EMXL 6

Empty spiracies (drosopMla) homologue 2 EMX2 6

EndothelM 1 EDN1 5

Endothelm 2 EDN2 5

Endothelin 3 EDN3 5

Endothelin converting enzyme ECE1 5

Endothelm receptor type A EDNRA 5

Endothelin receptor type B EDNRB 5

Enolase ENOI 1

Epidermal growth factor EGF 6

Epidermal growth factor receptor EGFR 6

Epilepsy, bemgn neonatal 4 gene ICCA 1

Epilepsy, female restricted EFMR 1

Epilepsy, progressive myociomc 2 gene EPM2A 1

Excision repair complementation group 4 ERCC4 1 protein

Factor 1 (No. one) FI 4

Factor III F3 4

Factor IX F9 4

Factor V F5 4

Factor VII F7 4

Factor VIII F8 4

Factor X F10 4

Factor XI Fll 4 Factor XII F12 4

Factor XIII A & B F13N & F13B 4

Fancom anemia, complementation group C FAΝCC 2

Fancom anemia, complementation group D FAΝCD 2

Fibrinogen alpha FGA 3

Fibrinogen beta FGB 3

Fibrinogen gamma FGG 3

Fibroblast growth factor FGF1 6

Fibroblast growth factor receptor 1 FGFR1 6

Fibroblast growth factor receptor 2 FGFR2 6

Fibroblast growth factor receptor 3 FGFR3 6

Fibronectin precursor FΝ1 6

Flightless-II, DrosopMla homolog of FLII 6

Follicle stimulating hormone receptor FSHR, ODG1 6

Follicle stimulating hormone, FSH FSHB 6

Formiminotransferase 1

Fragile site, folic acid type, rare, fra(X) A FRAXA 5

Fragile site, folic acid type, rare, fra(X) E FRAXE 5

Fragile site, folic acid type, rare, fra(X) F FRAXF 5

Frataxin FRDN 6

Fukuyama type congemtal muscular FCMD 6 dystrophy

Fumarase FH 1

GABA receptor, alpha 1 GNBRN1 5

GABA receptor, alpha 2 GNBRN2 5

GABA receptor, alpha 3 GNBRN3 5

GABA receptor, alpha 4 GNBRN4 5

GABA receptor, alpha 5 GNBRN5 5

GABA receptor, alpha 6 GNBRN6 5

GABN receptor, beta 1 GABRB1 5

GABA receptor, beta 2 GABRB2 5

GABA receptor, beta 3 GABRB3 5

GABN receptor, gamma 1 GABRG1 5

GABN receptor, gamma 2 GABRG2 5

GABA receptor, gamma 3 GABRG3 5

GABN transaminase ABAT 1

Galactosyltransferase 1 GT1 6

Galactosyltransferase, alpha 1,3 GGTA1 6

Galactosyltransferase, beta 3 B3GALT 6

Galamn GAL 5

Galamn receptor GALΝR1 5

Gamma-glutamyltransferase I GGT1 2

Gastiic Mtrinsic factor, GIF GIF 1

GDP dissociation inMbitor I GDI1 6

Glial-cell derived neurotropMc factor (GDΝF) 5 receptor

Gilal-cell derived neurotiopMc factor, GDΝF GDΝF 5 Glioma cMoride ion channel, GCC 6

G utamate decarboxylase, GAD GADI 1

Glutamate receptor 1 GLUR1 5

Glutamate receptor 2 GLUR2 5

Glutamate receptor 3 GLUR3 5

Glutamate receptor 4 GLUR4 5

Glutamate receptor 5 GLUR5 5

Glutamate receptor 6 GLUR6 5

Glutamate receptor 7 GLUR7 5

Glutamate receptor, ionotropic, NMDA 1 NMDAR1 5

Glutamate receptor, ionotropic, NMDA 2A NMDAR2A 5

Glutamate receptor, ionotropic, NMDA 2B NMDAR2B 5

Glutamate receptor, ionotropic, NMDA 2C NMDAR2C 5

Glutamate receptor, ionotropic, NMDA 2D NMDAR2D 5

Glutaryl-CoA dehydrogenase GCDH 1

GlutatMone GSH 2

GlutatMone S-transferase, GSTZI GSTZI

GlutatMone synthetase GSS

Glyceraldehyde-3 -phosphate GAPDH dehydrogenase, GAPDH

Glycerol kinase GK

Glycinamide ribonucleotide (GAR) GART tiansformylase

Glycine dehydrogenase GLDC

GM2 ganglioside activator protem, GM2A GM2A

Gonadotropin releasmg hormone receptor GNRHR 6

GTP cylcohydrolase I GCH1 6

Guamne nucleotide-binding protem, alpha GNAOI 5 activating activity polypeptide, GNAO

Guanylate cyclase 2D, membrane (retina- GUCY2D specific)

Guanylate cyclase activator 1 A (retina) GUCA1A 1

Guanylyl cyclase 1

Haeme regulated inMbitor kinase 1

Haemoglobin alpha 1 HBA1 2

HaemoglobM alpha 2 HBA2 2

Haemoglobm beta HBB 2

Haemoglobm delta HBD 2

Haemoglobin gamma A HBG1 2

HaemoglobM gamma B HBG2 2

Haemoglobm gamma G HBGG 2

Heparan sulfamidase 1

Heparin bMding epidermal growth factor HBEGF 6

Heparin Cofactor II HCF2 4

Hepatic lipase LIPC 1

Hexosamimdase A HEXA,TSD 1

Hexosamimdase B HEXB 1 Histamine receptors, Hl 5

Histamme receptors, H2 5

HistamMe receptors, H3 5

Histidase 1

HLA-B associated transcript 1 BNT1

HMG-CoA reductase HMGCR 1

Holocarboxylase synthetase HLCS 1

Holoprosencephaly 1 HPE1 6

Holoprosencephaly 2 HPE2 6

Holoprosencephaly 3 HPE3 6

Holoprosenceohaly 4 HPE4 6

Hypoxia inducible factor 1 HIF1N 1

Hypoxia inducible factor 2 1

IC7 A and B 4

Inositol 1,4,5-triphosphate receptor 1 ITPR1 6

Inositol monophosphatase IMPN1 5

Insulin INS 6

Insulin receptor INSR 6

Insulin-like growth factor 1 IGF1 6

Insulin-like growth factor 1 receptor IGF1R 6 sulm-like growth factor 2 IGF2 6

Msulm-like growth factor 2 receptor IGF2R 6

Integrin beta 1 ITGB1 6

Integrin beta 2 ITGB2 6

Integrin beta 3 ITGB3 6

Integrin beta 4 ITGB4 6

Integrin beta 5 ITGB5 6

Integrin beta 6 ITGB6 6

Integrin beta 7 ITGB7 6

Integrin, alpha 1 ITGAL 6

Integrin, alpha 2 ITGA2 6

Integrin, alpha 3 ITGA3 6

Mtegrin, alpha 4 ITGA4 6

Integrin, alpha 5 ITGA5 6

Integrin, alpha 6 ITGA6 6

Integrin, alpha 7 ITGA7 6

Integrin, alpha 8 ITGA8 6

Mtegrin, alpha 9 ITGA9 6

Mtegrin, alpha M ITGAM 6

Integrin, alpha X ITGAX 6

Mter-alpha-trypsM inMbitor, IATI 1

Mterleukin(IL) 1 receptor IL1R 4

MterleukM(IL) 1, alpha IL1A 4

Mterleukin(IL) 1, beta IL1B 4

MterleukM(IL) 10 IL10 4

Mterleukin(IL) 10 receptor IL10R 4

MterieukM(IL) 11 IL11 4 Mterleιιkin(IL) 11 receptor IL11R 4

Mterleukin(IL) 12 IL12 4

InterleuldnüL) 12 receptor, beta IL12RB1 4

Interleukin(IL) 13 IL13 4

MterleukM(IL) 13 receptor IL13R 4

Mterleukin(IL) 2 IL2 4

Mterleukin(IL) 2 receptor, alpha IL2RA 4

Interleuldn(IL) 2 receptor, gamma IL2RG 4

MterleukM(IL) 3 IL3 4

Mterleukin(IL) 3 receptor IL3R 4

Interleukin(IL) 4 IL4 4

Mterleukin(IL) 4 receptor IL4R 4

Mterleukin(IL) 5 IL5 4

Mterleukin(IL) 5 receptor IL5R 4

Mterleukin(IL) 6 IL6 4

Mterleukin(IL) 6 receptor IL6R 4

Interleukin(IL) 7 IL7 4

Interleukin(IL) 7 receptor IL7R 4

Mterleukin(IL) 8 IL8 4 lnterleukin(IL) 8 receptor IL8R 4

Mterleukin(IL) 9 IL9 4

Mterleukin(IL) 9 receptor IL9R 4

Mterleukin(IL) receptor antagomst 1 ILI RN, IL1RA

IP3 kinase 1

Kallikrein 3 KAK3 4

Kimnogen, High molecular weight KNG 4

Kynuremnease 1

Lamimn 5, alpha 3 LAMA3 6

Lamimn 5, beta 3 LAMB3 6

Lamimn 5, gamma 2 LAMC2 6

Lamimn M LAMM 6

Lamimn receptor 1 LAMR1 6

Latent tiansforming growth factor-beta LTBP2 6 binding protein 2

Leptin LEP ^* 6

Leptin receptor LEPR 6

LeukM 4

Leukocyte-specific transcript 1 LST-1 4

Leukotriene A4 hydrolase

Leukotriene A4 synthase LTA4S 1

Leukotriene B4 receptor 4

Leukotriene B4 synthase LTB4S 1

Leukotriene C4 receptor 4

Leukotriene C4 synthase LTC4S 1

Leukotriene D4/E4 receptor 4

LIM homeobox protein 1 LHX1 6

LIM-Kinase I (LINK-1) 4 Lipocortin 1 ANX4 4

Lipoprotem lipase LPL 4

Lipoprotein receptor, Low Density LDLR 2

Lipoprotem, High Density HDLDT1 2

Lipoprotein, Mtermediate Density 2

Lipoprotein, Low Density 1 2

Lipoprotein, Low Density 2 2

LipoproteM, Very Low Density VLDLR 2

Lipoprotein-associated coagulation factor LACI 4

Low density lipoprotein receptor-related LRP 2 protein precursor

Lymphoid enhancer-binding factor LEF-1 6

MAD (mothers agaMst decapentaplegic, MADH4 6

DrosopMla) homologue 4

Malonyl CoA decarboxylase

Mannosidase, alpha B lysosomal MANB

Mannosidase, -beta A lysosomal MANBA

MetMonine synthase MTR

Methylmalonyl-CoA mutase MUT

Mevalonate Idnase MVK

Mismatch repair gene, PMSL2 PMS2 6

Molybdenum cofactor synthesis 1 MOCS1

Molybdenum cofactor synthesis 2 MOCS2

Monoamine oxidase A MAOA

MonoamMe oxidase B MAOB

Mucolipidoses GNPTA

Muscarimc receptor, Ml CHRM1 5

Muscarmic receptor, M2 CHRM2 5

Muscarimc receptor, M3 CHRM3 5

Muscarimc receptor, M4 CHRM4 5

Muscarimc receptor, M5 CHRM5 5

Myelin basic protein 3

N-acetylglucosamine-6-sulfatase GNS 1

N-acetylglucosamimdase, alpha NAGLU 1 reductase

NB6 4

Nerve growth factor NGF 6

Nerve growth factor receptor NGFR 6

Neurite inMbitory protein 5

Neurofibromin 1 NF1 6

Neurofibromin 2 NF2 6

Neurofilament protem, NF68 NF68 3

Neurokimn A NKNA 5

Neurokimn B NKNB 5

Neuropeptide Y NPY 5

Neuropeptide Y receptor Yl NPY1R 5

Neuropeptide Y receptor Y2 NPY2R 5 Nitiic oxide synthase 1, NOSl NOSl 1

Nitiic oxide synthase 2, NOS2 NOS2 1

Nitric oxide synthase 3, NOS3 NOS3 1

Notch 3 NOTCH3 6

Notch ligand -jagged 1 JAG 1, AGS 6

Nuclear factor 1-kappa-B-like gene IKBL 4

Nucieoside diphosphate kinase-A NDPKA 1

Oncogene bcI2 6

Oncogene sis PDGFB 6

OmitMne delta-aminotransferase OAT 1

OmitMne transcarbamoylase OTC, NME1 1

Orthodenticle (DrosopMla) homolog 1 OTX1 6

Orthodenticle (DrosopMla) homolog 2 OTX2 6

Patched (DrosopMla) homolog, PTCH PTCH 6

Peroxisomal membrane protein 1 PXMP1 3

Peroxisomal membrane protein 3 PXMP3 2

Peroxisome biogenesis factor 1 PEX1 2

Peroxisome biogenesis factor 19 PEX19 2

Peroxisome biogenesis factor 6 PEX6 2

Peroxisome biogenesis factor 7 PEX7 2

Peroxisome receptor 1 PXR1 2

Persyn 3

Phosphoglucose isomerase GPI 1

Phosphoglycerate Idnase 1 PGK1 1

Phospholipase A2, group 10 PLA2G 10 1

Phospholipase A2, group IB PLA2G IB 4

Phospholipase A2, group 2A PLA2G2A 4

Phospholipase A2, group 2B PLA2G2B 4

Phospholipase A2, group 4A PLA2G4A 4

Phospholipase A2, group 4C PLA2G4C 4

Phospholipase A2, group 5 PLA2G5 4

Phospholipase A2, group 6 PLA2G6 4

Phospholipase C alpha 4

Phospholipase C beta 4

Phospholipase C delta PLCD1 4

Phospholipase C epsilon 4

Phospholipase C gamma PLCG1 4

Phosphomannomutase 2 PMM2 6

Plasminogen PLG 1

Plasmmogen activator inMbitor 1 PAH 1

Plasminogen activator inMbitor 2 PAI2 1

Plasminogen activator receptor, Urokinase UPAR; PLAUR 3

Plasminogen activator, Tissue PLAT;TPA 1

Plasminogen activator, Urokmase UPAPLAU 1

Platelet derived growth factor PDGF 6

Platelet derived growth factor receptor PDGFR 6

Platelet glycoprotein I b, alpha GP1BA 4 Platelet glycoprotem I b, beta GP1BB 4

Platelet glycoprotem I b, gamma GPIBG 4

Platelet glycoprotem IX GP9 4

Platelet glycoprotem V GP5 4

Platelet-activatmg factor acetylhydrolase 2 PAFAH2 4

Platelet-activating factor receptor PAFR 4

Plectin 1 PLEC1 2

Polycystin 1 PKD1 2

Polycystin 2 PKD2 2

Potassium inwardly-rectifymg channel Jl KCNJ1 5

Potassium voltage-gated Channel El KCNE1 5

Potassium voltage-gated Channel Ql KCNQl 5

Potassium voltage-gated Channel Q2 KCN02 5

Potassium voltage-gated channel Q3 KCNQ3 5

POU domain, class 1, transcription factor 1 POUIFI 6

(Pitl)

Prekallikrein

Prion protein PRNP 5

Procollagen N-protease 1

Proline dehydrogenase PRODH 1

Proopiomelanocortin POMC 5

ProstacyclM synthase 4

Prostaglandin 15-OH dehydrogenase HGPD, PGDH 4

Prostaglandin D - DP receptor 4

Prostaglandin El receptor 4

Prostaglandin E2 receptor 4

Prostaglandin E3 receptor 4

Prostaglandm F - FP receptor 4

Prostaglandin 12 receptor 2

Prostaglandm IP receptor 4

Protective protein for beta-galactosidase PPGB 1

Protein C PROC 4

Protem C inMbitor PCI 4

Protein kinase C, alpha PRKCA 1

Protein kinase C, gamma PRKCG 1

ProteM kinase G 1

Protem phosphatase 1, regulatory (inMbitor) PPPIR3 1 subimit 3

ProteM S PROS1 4

Protiirombin precursor F2 4

Purine nucleoside phosphorylase NP 1

Pyrroline-5-carboxylate synthetase PYCS 1

Pyruvate carboxylase PC 1

Ras-G-protein RAS 6

Remn REN 1

Replication factor C RFC2 1

RIGUI RIGUI 6 S100 calcium-bindmg proteM AI S100A1 5

S100 calcium-bMdMg proteM A4 S100A4 5

S100 calcium-bmdmg proteM A5 S100A5 5

S100 calcium-bmdmg proteM A6 S100A6 5

S100 calcium-bMdmg proteM A7 S100A7 5

S100 calcium-binding protein A9 S100A9 5

S100 calcium-bindmg protem B S100B 5

Secretase, alpha 5

Secretase, beta 5

Secretase, gamma 5

Selectin E SELE 5

Selectin L SELL 5

Selectin P SELP 5

Serotomn N-acetyltransferase SNAT 1

Serotomn receptor, 5HT1 A HTR1A 5

Serotomn receptor, 5HT1B HTR1B 5

Serotomn receptor, 5HT1C HTR1C 5

Serotomn receptor, 5HT1 D HTR1D 5

Serotomn receptor, 5HT1 E HTR1E 5

Serotomn receptor, 5HT1 F HTR1F 5

SerotonM receptor, 5HT2A HTR2A 5

Serotomn receptor, 5HT2B HTR2B 5

Serotomn receptor, 5HT2C HTR2C 5

Serotomn receptor, 5HT3 HTR3 5

SerotonM receptor, 5HT4 HTR4 5

Serotomn receptor, 5HT5 HTR5 5

Serotomn receptor, 5HT6 HTR6 5

Serotomn receptor, 5HT7 HTR7 5

Sodium channel, non-voltage gated 1, alpha SCNNIA 5

Sodium channel, non-voltage gated 1, beta SCNNIB 5

Sodium channel, non-voltage gated 1, SCNNIG 5 gamma

Sodium channel, voltage-gated, type 1, beta SCN B 5 polypeptide

Solute carder family 1 (glutamate SLC1A1 2 tiansporter), member 1

Solute carrier family 1 (glutamate SLC1A2 2 tiansporter), member 2

Solute carrier family 12, member 1 SLC12A1 2

Solute carrier family 12, member 2 SLC12A2 2

Solute carrier family 12, member 3 SLC12A3 2

Solute carrier family 16 (monocarboxylate SLC16A1 2 transporter), member 1

Solute carrier family 16 (monocarboxylate SLC16A7 2 transporter), member 7

Solute carrier family 18, member 3 SLC18A3 2 Solute carrier family 2 (facilitated glucose SLC2A1 transporter), member 1

Solute carrier family 20, member 3 SLC2OA3 2

Solute carrier family 5 (sodium/glucose SLC5AI 2 transporter), member 1

Solute carrier family 5 (sodium/glucose SLC5A2 2 transporter), member 2

Solute carrier family 5 (sodium/glucose SLC5A5 2 tiansporter), member 5

Solute carrier family 5, member 3 SLC5A3 2

Solute carrier family 6 (GAMMA- SLC6A1 2

AMINOBUTYRIC ACID tiansporter), member.

Solute carrier family 6 (neurotiansmifter SLC6A3 2 tiansporter, dopamine), member 3

Solute carrier family 6 (neurotiansmifter SLC6A2 2 tiansporter, noradrenaline), member 2

Solute carder family 6 (neurotiansmifter SLC6A4 2 transporter, serotomn), member 4

Solute carrier family 7(amino acid SLC7A1 2 transporter), member 1

Solute carrier family 7(amino acid SLC7A2 2 tiansporter), member 2

Solute carrier family 7(amino acid SLC7A7 2 tiansporter), member 7

SpMngomyelinase SMPDl 1

Spinocerebellar ataxia 8 gene SCA8 5

Steroid 5 alpha reductase 1 SRD5A1 1

Steroid 5 alpha reductase 2 SRD5A2 1

Substance P 5

Succimc semi-aldehyde dehydrogenase SSADH 1

Sulfamidase SGSH 6

Sulfite oxidase SUOX 1

Superoxide dismutase 1 SOD1 1

Superoxide dismutase 3 SOD3 1

Surfeit 1 SURF1 6

Synapsin 1 a & 1 b SYN1 5

Synapsin 2a & 2b SYN2 5

Synaptic vesicle amine transporter SVAT 5

Synaptobrevin 1 SYB1 5

Synaptobrevin 2 SYB2 5

Synaptogyrin 5

Synaptophysm SYP 5

SynaptotagmM 1 SYT1 5

Synaptotagmin 2 SYT2 5

Syntaxin 1 STX1 5

Talin TLN 6

Tau proteM MAPT 3 TEK, tyrosme Idnase, endothelial TEK 1

Telomerase protein component 1

TMombm receptor F2R 4

TMombopoietm THPO 6

TMomboxane A synthase I TBXASI 4

TMomboxane A2 TXA2 4

TMomboxane A2 receptor TBXA2R 4

Thyroxm-binding globulin TBG 2

Topoisomerase I 1

Transforming growth factor, beta 2 TGFB2 6

Transformmg growth factor, beta receptor 2 TGFBR2 6

Tuberous sclerosis 1 TSC1 6

Tuberous sclerosis 2 TSC2 6

Tumour necrosis factor (TNF) receptor TRAF1 4 associated factor 1

Tumour necrosis factor (TNF) receptor TRAF2 4 associated factor 2

Tumour necrosis factor (TNF) receptor TRAF3 4 associated factor 3

Tumour necrosis factor (TNF) receptor TRAF4 4 associated factor 4

Tumour necrosis factor (I NF) receptor TRAF5 4 associated factor 5

Tumour necrosis factor (TNF) receptor TRAF6 4 associated factor 6

Tumour necrosis factor alpha TNFA 4

Tumour necrosis factor alpha receptor TNFAR 4

Tumour necrosis factor beta TNFB 4

Tumour necrosis factor beta receptor TNFBR 4

Tumour protein p53 TP53,P53 6

Tumour protein p63 TP63 6

Tyrosine aminotiansferase TAT 1

Tyrosine hydroxylase TH 1

Ubiquitin 6

Ubiquitin B UBB 6

Ubiquitin C UBC 6

Ubiquitin carboxyl-terminal esterase l UCHL1 6

UDP-glucuronosyltransferase 1 ugtld, UGTl 1

UDP-glucuronosyltransferase 2 UGT2 1

Undulin 1 COL14A1 3

Uridinediphosphate(UDP)-galactose-4- GALE 1 epimerase

Uroporphyrinogen III synthase UROS 1

Vacuolar proton pump, subumt 1 VPP1 5

Vacuolar proton pump, subumt 3 VPP3 5

Vasoactive Mtestmal polypeptide VIP 5

Vasoactive mtestmal polypeptide receptor VIPR 5 Von Hippel-Lmdau gene VHL 6 Wolf-Hirschhom syndrome candidate 1 gene WHSCl 6 XantMne dehydrogenase XDH 1 Zinc finger protem 2 ZIC2 3

dass die mit mit Demenz und/oder assoziierten Syndromen m Zusammenhang stehenden Gene ausgewäMt smd aus:

Liste der Gene HUGO Protein¬

Gensymbol funktion

2,3-Bisphosphoglycerate mutase BPGM 1

3 beta Hydroxysteroid dehydrogenase 2 HSD3B2 1

5,10-Methylenetetiahydrofolate reductase MTHFR 1

(NADPH)

Acetylcholine receptor, nicotimc, alpha AI CHRNAl 5

Acetylcholine receptor, nicotimc, alpha A2 CHRNA2 5

Acetylcholine receptor, mcotmic, alpha A3 CHRNA3 5

Acetylcholine receptor, nicotimc, alpha A4 CHRNA4 5

AcetylcholMe receptor, nicotimc, alpha A5 CHRNA5 5

Acetylcholine receptor, nicotMic, alpha A6 CHRNA6 5

Acetylcholine receptor, nicotmic, alpha A7 CHRNA7 5

Acetylcholine receptor, nicotMic, beta 1 CHRNB1 5

Acetylcholine receptor, mcotimc, beta 2 CHRNB2 5

AcetylcholMe receptor, nicotimc, beta 3 CHRNB3 5

AcetylcholMe receptor, nicotimc, beta 4 CHRNB4 5

Acetylcholine receptor, nicotMic, epsilon CHRNE 5

Acetylcholine receptor, nicotimc, gamma CHRNG 5

Acetylcholinesterase ACHE 1

Adducin, alpha ADD1 3

Adducin, beta ADD2 3

Adenosine receptor AI ADORA1 5

Adenosine receptor A2A ADORA2A 5

Adenosine receptor A2B ADORA2B 5

Adenosine receptor A3 ADORA3 5

Adenylate cyclase 1 ADCY1

Adenylate cyclase 2 ADCY2

Adenylate cyclase 3 AOCY3

Adenylate cyclase 4 ADCY4

Adenylate cyclase 5 ADCY5

Adenylate cyclase 6 ADCY6

Adenylate cyclase 7 ADCY7

Adenylate cyclase 8 ADCY8

Adenylate cyclase 9 ADCY9 Adrenergic receptor, alphal ADRA1 5

Adrenergic receptor, alpha2 ADRA2 5

Adrenergic receptor, betal ADRB1 5

Adrenergic receptor, beta2 ADRB2 5

Adrenergic receptor, beta3 ADRB3 5

AdrenocorticotropMc hormone (ACTH) ACTHR 6 receptor

Albumm, ALB ALB 2

Aldosterone receptor MLR 6 alpha 2 Macroglobul A2M 4 alphal-Antitrypsin Pl 1 alpha2-Antiplasmin PLI 1 alpha-Synuclein SNCA 5

Aminopeptidase P XPNPEP2 1

Amyloid beta (A4) precursor protein-binding, APBB1 5

APBB1

Amyloid beta A4 precursor proteM APP 5

Amyloid beta A4 precursor-like protein APLP 5

Angiopoietin 1 ANGPT1 6

Angiopoietin 2 ANGPT2 6

Angiotensin converting enzyme ACE,DCP1 1

Angiotensin receptor 1 AGTR1 2

AngiotensM receptor 2 AGTR2 2

Angiotensinogen AGT 1

Antidiuretic homione receptor ADHR 2

AntitMombin III AT3 1

Apolipoprotein A 1 APOA1 2

Apoiipoprotein A 1 APOA2 2

Apolipoprotein B APOB 2

Apolipoprotein Cl APOC1 2

Apolipoprotein C2 APOC2 2

Apolipoprotem C3 APOC3 2

Apolipoprotein D APOD 2

Apolipoprotein E APOE 2

Apolipoprotem H APOH 2

Apoptosis antigen 1 APT1 4

Arginase ARG1 1

Argimne vasopressin AVP 5

Argimne vasopressin receptor 1 A AVPR1A 5

Argimne vasopressm receptor IB AVPRL1B 5

Argimne vasopressin receptor 2 AVPR2 5

Arginosuccinate lyase ASL 1

Argmosuccinate synthetase ASS 1

Ataxia telangiectasia gene, AT ATM 6

ATP/ADP translocase 1

Atiial natriuretic peptide ANP 6

Atiial natriuretic peptide receptor A NPR1 6 Atiial natriuretic peptide receptor B NPR2 6

Atiial natriuretic peptide receptor C NPR3 6

Bagpipe homeobox, drosopMla homolog of, 1 BAPX1 6 beta-synuclein SNCB 5

BleomycM hydrolase BLMH 1

Bradykimn receptor Bl 4

Bradykimn receptor B2 4

Bram derived neurotropMc factor BDNF 6

Brain derived neurotrophic factor (BDNF) BDNFR 6 receptor

ButyrylcholMesterase BCHE 1

Cadherin E CDH1 6

Cadherin EP 6

Cadherin N CDH2 6

Cadherin P CDH3 6

Calbindin 1 CALB1 6

Calbindm D9K CALB3 6

Calcineurin AI CALNA1 4

Calcineurin A2 CALNA2 4

Calcineurin A3 CALNA3 4

Calcineurin B

Calcitomn/Calcitomn gene-related peptide CALCA 5 alpha

Calcium Channel, voltage-dependent, alpha 1 F CACNA1F 5 subumt

Calcium Channel, voltage-dependent, Alpha- CACNA1B 5

1B (CACNL1A5)

Calcium Channel, voltage-dependent, Alpha- CACNA1C 5

1 C

Calcium channel, voltage-dependent, Alpha- CACNA1D 5

1 D

Calcium channel, voltage-dependent, Alpha- CACNA1E 5

1 E (CACNL1A6)

Calcium channel, voltage-dependent, Alpha- CACNA2 5

2/delta

Calcium channel, voltage-dependent, Beta 1 CACNB1 5

Calcium channel, voltage-dependent, Beta 3 CACNB3 5

Calcium channel, voltage-dependent, L type, CACNAL S 5 alpha IS subumt

Calcium channel, voltage-dependent, CACNG2 5

Neuronal, Gamma

Calcium channel, voltage-dependent, P/Q CACNA1A 5 type, alpha 1 A submiit

Calcium channel, voltage-dependent, T-type 5

Calmodulin 1 CALM1 6

Calmodulin 2 CALM2 6

Calmodulin 3 CALM3 6 Calmodulm-dependant proteM kinase II CAMK2A 6

Calnexm CANX 6

Calpain CAPN,CAPN3 1

CalretMin CALB2 5

Carbomc anhydrase 3 CA3 1

Carbomc anhydrase 4 CA4 1

Carbomc anhydrase, alpha CA1 1

Carbomc anhydrase, beta CA2 1

Cardiac-specific homeobox, CSX CSX 6

Caspase 1 CASP1 6

Caspase 10 CASP10 6

Caspase 2 CASP2 6

Caspase 3 CASP3 6

Caspase 4 CASP4 6

Caspase 5 CASP5 6

Caspase 6 CASP6 6

Caspase 7 CASP7 6

Caspase 8 CASP8 6

Caspase 9 CASP9 6

Catechol-o-methyltiansferase COMT 1

CD1 CD1

CD4 CD4

Cell adhesion molecule, Mtercellular, ICAM ICAM1 6

Cell adhesion molecule, leukocyte-endothelial, LECAMl 6

LECAM (CD62)

Cell adhesion molecule, liver, LCAM LCAM 6

Cell adhesion molecule, neural, NCAMl NCAMl 6

Cell adhesion molecule, neural, NCAM2 NCAM2 6

Cel adhesion molecule, platelet-endothelial, PECAMl 6

PECAM

Cell adhesion molecule, vascular, VCAM VCAMl 6

Chemokine receptor CXCR4 CXCR4 4

CholMe acetyltiansferase CHAT 1

ChymotrypsMogen 1

Cockayne syndrome gene, CKNI CKNI 6

Cofilin 3

Collagen I alpha 1 COLIA1 3

Col agen I alpha 2 COLIA2 3

Co lagen II alpha 1 COL2A1 3

Collagen III alpha 1 COL3A1 3

Collagen IV alpha 1 COL4A1 3

Co lagen TV alpha 2 COL4A2 3

Collagen TV alpha 3 COL4A3 3

Collagen IV alpha 4 COL4A4 3

Collagen IV alpha 5 COL4A5 3

Collagen IV alpha 6 COL4A6 3

Collagen IX alpha 2 COL9A2, EDM2 3 Collagen LX alpha 3 COL9A3 3

Collagen receptor COLR 3

Collagen V alpha 1 COL5A1 3

Collagen V alpha 2 COL5A2 3

Collagen VI alpha 1 COL6A1 3

Collagen VI alpha 2 COL6A2 3

Collagen VI alpha 3 COL6A3 3

Collagen VII alpha 1 COL7A1 3

Collagen X alpha 1 COL10A1 3

Collagen X alpha 1 COLI 1 AI 3

Collagen XI alpha 2 COL11A2 3

Collagen XVII alpha l COL17A1 3

CorticotiopMn releasing hormone CRH 2

CorticotiopMn releasing hormone receptor CRHR1 2

Cu2+ transporting ATPase beta polypeptide ATP7B

Cyclic AMP-dependent protein Idnase PKA

Cyclic nucleotide phosphodiesterase 2A3 PDE2A3

Cyclic nucleotide phosphodiesterase 3A PDE3A

Cyclic nucleotide phosphodiesterase 3B PDE3B

Cyclic nucleotide phosphodiesterase 4A PDE4A

Cyclic nucleotide phosphodiesterase 4C PDE4C

Cyclic nucleotide phosphodiesterase 5 A PDE5A

Cyclic nucleotide phosphodiesterase 6A PDE6A

Cyclic nucleotide phosphodiesterase 6B PDE6B

Cyclic nucleotide phosphodiesterase 7 PDE7

Cyclic nucleotide phosphodiesterase 8 PDE8

Cyclic nucleotide phosphodiesterase 9A PDE9A

Cyclooxygenase 1 COX1

Cyclooxygenase 2 COX2

CYP11A1 CYP11A1

CYP11B1 CYP11B1

CYP11B2 CYP11B2

CYP17 CYP17

CYP19 CYP19

CYPIAI CYPIAI

CYP1A2 CYP1A2

CYP1B1 CYP1B1

CYP21 CYP21

CYP24 CYP24

CYP27 CYP27

CYP27B1 PDDR

CYP2A1 CYP2A1

CYP2A13 CYP2A13

CYP2A3 CYP2A3

CYP2A6V2 CYP2A6V2

CYP2A7 CYP2A7

CYP2B6 CYP2B6 CYP2C18 CYP2C18

CYP2C19 CYP2C19

CYP2C8 CYP2C8

CYP2C9 CYP2C9

CYP2D6 CYP2D6

CYP2E1 CYP2E1

CYP2F1 CYP2F1

CYP2J2 CYP2J2

CYP3A3 CYP3A3

CYP3A4 CYP3A4

CYP3A5 CYP3A5

CYP3A7 CYP3A7

CYP4A11 CYP4A11

CYP4B1 CYP4B1

CYP4F2 CYP4F2

CYP4F3 CYP4F3

CYP51 CYP51

CYP5A1 CYP5A1

CYP7A CYP7A

CYP8 CYP8

CystatMone beta synthase CBS

Cystatin C CST3 2

Cystinosin CTNS 2

CytidMe-5-prime-triphosphate synthetase CTPS

CytocMome a

CytocMome c

CytocMome c oxidase, MTCO

Dihydrolipoyl succinyltiansferase DLST

Dopamme beta hydroxylase DBH

Dopamme receptors Dl DRD1 5

Dopamine receptors D2 DRD2 5

Dopamine receptors D3 DRD3 5

Dopamme receptors D4 DRD4 5

Dopamine receptors D5 DRD5 5

Doublecortin, DCX DCX 3

Emerin EMD 2

Endothelin 1 DNI 5

Endothelin 2 EDN2 5

EndothelM 3 EDN3 5

Endothelin converting enzyme ECE1 5

Endothelin receptor type A EDNRA 5

EndothelM receptor type B EDNRB 5

Enolase ENO1 1

Epidermal growth factor EGF 6

Epidermal growth factor receptor EGFR 6

Epilepsy, progressive myoclomc 2 gene EPM2A 1

Excision repair complementation group 4 ERCC4 1 proteM

Factor I (No. one) FI 4

Factor III F3 4

Factor EX F9 4

Factor V F5 4

Factor VII F7 4

Factor VIII F8 4

Factor X F10 4

Factor XI Fll 4

Factor XII F12 4

Factor XIII A & B F13A & F13B 4

Fanconi anemia, complementation group A FANCA 2

Fibrinogen alpha FGA 3

Fibrinogen beta FGB 3

Fibrinogen gamma FGG 3

Fibroblast growth factor FGFI 6

Fibroblast growth factor receptor 1 FGFRL 6

Fibroblast growth factor receptor 2 FGFR2 6

Fibroblast growth factor receptor 3 FGFR3 6

Fibronectin precursor FN1 6

Follicle stimulatmg hormone receptor FSHR,ODGl 6

Follicle stimulating hormone, FSH FSHB 6

GABA receptor, alpha 1 GABRA1 5

GABA receptor, alpha 2 GABRA2 5

GABA receptor, alpha 3 GABRA3 5

GABA receptor, alpha 4 GABRA4 5

GABA receptor, alpha 5 GABRA5 5

GABA receptor, alpha 6 GABRA6 5

GABA receptor, beta 1 GABRB1 5

GABA receptor, beta 2 GABRB2 5

GABA receptor, beta 3 GABRB3 5

GABA receptor, gamma 1 GABRG1 5

GABA receptor, gamma 2 GABRG2 5

GABA receptor, gamma 3 GABRG3 5

GABA transammase ABAT 1

Galactosyltransferase 1 GT1 6

Galactosyltransferase, alpha 1,3 GGTA1 6

Galactosyltransferase, beta 3 B3GALT 6

Gastric Intrinsic factor, GIF GIF 1

Glial-cell derived neurotropMc factor (GDNF) 5 receptor

Glial-cell derived neurotropMc factor, GDNF GDNF 5

Glutamate decarboxylase, GAD GAD1 1

Glutamate receptor 1 GLUR1 5

Glutamate receptor 2 GLUR2 5

Glutamate receptor 3 GLUR3 5

Glutamate receptor 4 GLUR4 5 G utamate receptor 5 GLUR5 5

Glutamate receptor 6 GLUR6 5

Glutamate receptor 7 GLUR7 5

Glutamate receptor, ionotropic, NMDA 1 NMDAR1 5

Glutamate receptor, ionotropic, NMDA 2A NMDAR2A 5

Glutamate receptor, ionotropic, NMDA 2B NMDAR2B 5

Glutamate receptor, ionotropic, NMDA 2C NMDAR2C 5

Glutamate receptor, ionotropic, NMDA 2D NMDAR2D 5

Glutaryl-CoA dehydrogenase GCDH 1

GlutatMone GSH 2

GlutatMone S-transferase, GSTZI GSTZI 1

Glyceraldehyde-3 -phosphate dehydrogenase, GAPDH 1

GAPDH

Glycerol Idnase GK 1

Glycinamide ribonucleotide (GAR) GART 1 tiansformylase

Gonadotropin releasing hormone receptor GNRHR 6

Guanylyl cyclase 1

Haemoglobin alpha 1 HBAL 2

Haemoglobin alpha 2 HBA2 2

Haemoglobin beta HBB 2

Haemoglobin delta HBD 2

Haemoglobin gamma A HBGL 2

HaemoglobM gamma B HBG2 2

Haemoglobin gamma G HBGG 2

Heparan sulfamidase 1

Heparin binding epidermal growth factor HBEGF 6

Heparin Cofactor II HCF2 4

Hepatic lipase LIPC 1

Hexosamimdase A HEXA,TSD 1

Hexosammidase B HEXB 1

Hippocampal cholinergic neurostimulatmg peptide, HCNP 5

Histamine receptors, Hl 5

Histamine receptors, H2 5

Histamme receptors, H3 5

Histidase 1

HLA-B associated tianscript 1 BAT1

HMG-CoA reductase HMGCR 1

Holocarboxylase synthetase HLCS 1

Hypoxia inducible factor 1 HIF1A 1

Hypoxia inducible factor 2 1

IC7 A and B 4

Inositol monophosphatase IMPA1 5

Insulin INS 6

Msulin receptor INSR 6

Mtegrin beta 1 ITGB1 6

Mtegrin beta 2 ITGB2 6 Mtegrin beta 3 ITGB3 6 Mtegrin beta 4 ITGB4 6 Integrin beta 5 ITGB5 6 Integrin beta 6 ITGB6 6 Mtegrin beta 7 ITGB7 6 Integrin, alpha 1 ITGA1 6 Mtegrin, alpha 2 ITGA2 6 Integrin, alpha 3 ITGA3 6 Integrin, alpha 4 ITGA4 6 Mtegrin, alpha 5 ITGA5 6 Integrin, alpha 6 ITGA6 6 Mtegrin, alpha 7 ITGA7 6 Integrin, alpha 8 ITGA8 6 Integrin, alpha 9 ITGA9 6 Integrin, alpha M ITGAM 6 Integrin, alpha,X ITGAX 6 Mterleukin(IL) 1 receptor IL1R 4 Mterleukin(IL) 1, alpha IL1A 4 Interleukin(IL) 1, beta IL1B 4 Interleukin(IL) 10 IL10 4 MterleukinQL) 10 receptor IL10R 4 Interleukin(IL) II IL11 4 Interleukin(IL) 1 1 receptor IL11R 4 Mterleukin(IL) 12 IL12 4 MterleukinQL) 12 receptor, beta 1 IL12RB1 4 lnterleukM(IL) 13 IL13 4 MterleukinQL) 13 receptor IL13R 4 MterleukinQL) 2 IL2 4 Interleukin(IL) 2 receptor, alpha IL2RA 4 Interileukin(IL) 2 receptor, gamma IL2RG 4 InterleukMQL) 3 IL3 4 MterleukinQL) 3 receptor IL3R 4 InterleukMQL) 4 IL4 4 MterleukinQL) 4 receptor IL4R 4 MterleukinQL) 5 IL5 4 InterleukMQL) 5 receptor IL5R 4 MterleukinQL) 6 IL6 4 InterleukMQL) 6 receptor IL6R r Mterleukin(IL) 7 IL7 4 InterleukMQL) 7 receptor IL7R 4 Mteeleu_dn(IL) 8 IL8 4 InterleukMQL) 8 receptor IL8R 4 Interleukin(IL) 9 IL9 4 MterleukinQL) 9 receptor IL9R 4 InterleukMQL) receptor antagomst 1 IL1 RN, IL1RA 4 IP3 kinase 1 Kallikrein 3 KAK3 4 Kimnogen, High molecular weight KNG 4

Kynuremnease 1

Lamimn 5, alpha 3 LAMA3 6

Laminin 5, beta 3 LAMB3 6

Lamimn 5, gamma 2 LAMC2 6

Lammin M LAMM 6

Lamimn receptor 1 LAMR1 6

Latent transfo riMg growth factor-beta binding LTBP2 6 protein 2

Leptin LEP 6

Leptin receptor LEPR 6

Leukin 4

Leukocyte-specific tianscript 1 LST-1 4

Leukotriene A4 hydrolase 4

Leukotriene A4 synthase LTA4S 1

Leukotriene B4 receptor 4

Leukotriene B4 synthase LTB4S 1

Leukotriene C4 receptor 4

Leukotriene C4 synthase LTC4S 1

Leukotriene D4/E4 receptor 4

LIM homeobox protein 1 LHX1 6

LIM-Kinase I (LINK-1) 4

Lipoprotein receptor, Low Density LDLR 2

Lipoprotein, High Density HDLDT1 2

Lipoprotein, Mtermediate Density 2

Lipoprotein, Low Density I 2

Lipoprotein, Low Density 2 2

Lipoprotein, Very Low Density VLDLR 2

Low density lipoprotein receptor-related protein LRP 2 precursor

Lymphoid enhancer-binding factor LEF-1 6

MAD (mothers against decapentaplegic, MADH4 6

DrosopMla) homologue 4

Mannosidase, alpha B lysosomal MANB

Mannosidase, beta A lysosomal MANBA

MetMomne synthase MTR

Mismatch repair gene, PMSL2 PMS2 6

Molybdenum cofactor synthesis 1 MOSC1

Molybdenum cofactor synthesis 2 MOCS2

Monoamine oxidase A MAOA

Monoamine oxidase B MAOB

Muscarimc receptor, Ml CHRM1 5

Muscaάnic receptor, M2 CHRM2 5

Muscarimc receptor, M3 CHRM3 5

Muscarimc receptor, M4 CHRM4 5

Muscarimc receptor, M5 CHRM5 5

Myelm basic protem 3 N-Acetylglucosamine-6-sulfatase GΝS 1

N-Acetylglucosammidase, alpha ΝAGLU 1 reductase

NB6

Nerve growth factor ΝGF 6

Nerve growth factor receptor ΝGFR 6

Neurite inMbitory protein 5

NeuroendocrMe convertase 1 ΝEC1, PCSK1 1

Neurofibromin 1 ΝF1 6

NeurofibromM 2 ΝF2 6

Neurofliament protein, NF68 NF68 3

Neurokimn A NKNA 5

Neurokimn B NKNB 5

Neuropeptide Y NPY 5

Neuropeptide Y receptor Yl NPY1R 5

Neuropeptide Y receptor Y2 NPY2R 5

Nitric oxide synthase 1, NOSl NOSl 1

Nitric oxide synthase 2, NOS2 NOS2 1

Nitric oxide synthase 3, NOS3 NOS3 1

Notch 3 NOTCH3 6

Nuclear factor 1-kappa-B-like gene IKB1 4

Nucleoside diphosphate kinase-A NDPKA 1

Oncogene bcI2 6

Oncogene sis PDGFB 6

OmitMne delta-aminotiansferase OAT 1

OmitMne transcarbamoylase OTC, NMEl 1

ParkM PARK2 5

Persyn 3

Phosphoglucose isomerase GPI 1

Phosphoglycerate Idnase 1 PGK1 1

Phospholipase A2, group 10 PLA2G 10 4

Phospholipase A2, group IB PLA2G1B 4

Phospholipase A2, group 2A PLA2G2A 4

Phospholipase A2, group 2B PLA2G2B 4

Phospholipase A2, group 4A PLA2G4A 4

Phospholipase A2, group 4C PLA2G4C 4

Phospholipase A2, group 5 PLA2G5 4

Phospholipase N2, group 6 PLA2G6 4

Phospholipase C alpha 4

Phospholipase C beta 4

Phospholipase C delta PLCD1 4

Phospholipase C epsilon 4

Phospholipase C gamma PLCG1 4

Plasminogen PLG 1

Plasminogen activator MMbitor 1 PAI1 1

Plasminogen activator inMbitor 2 PAI2 1

Plasmmogen activator receptor, Urokmase UPAR; PLAUR 3 Plasmmogen activator, Tissue PLAT;TPA 1

Plasminogen activator, UrokMase UPA;PLAU 1

Platelet derived growth factor PDGF 6

Platelet derived growth factor receptor PDGFR 6

Platelet-activatmg factor receptor PAFR 4

Postsynaptic density-95 protein PSD95 5

Potassium Mwardly-rectifying channel Jl KCNJI 5

Potassium voltage-gated channel El KCNE1 5

Potassium voltage-gated channel Ql KCNQl 5

POU domain, class 1, tianscription factor 1 POUIFI 6

(Pitl)

Prekallikrein

Presemlin 1 PSEN1 2

Presemlin 2 PSEN2 2

Prion protem PRNP 5

Procoliagen N-protease 1

Proopiomelanocortin POMC 5

Prostacyclin synthase 4

ProstagiandM 15-OH dehydrogenase HGPD;PGDH 4

Prostagiandin D - DP receptor 4

ProstagiandM El receptor 4

Prostaglandin E2 receptor 4

ProstagiandM E3 receptor 4

Prostaglandin F - FP receptor 4

Prostaglandin 12 receptor 2

Prostaglandin IP receptor 4

Protective protein for beta-galactosidase PPGB 1

Protein C PROC 4

Protein C inMbitor PCI 4

Protein kinase C, alpha PRKCA 1

ProteM kinase C, gamma PRKCG 1

Protein kinase G 1

Protein phosphatase 1, regulatory (inMbitor) PPP1R3 1 subumt 3

Protein S PROS1 4

ProtMombin precursor F2 4

Purine nucleoside phosphorylase NP 1

Pyruvate carboxylase PC 1

Remn REN 1

Replication factor C RFC2 1

RIGUI RIGUI 6

S100 calcium-bmdmg protein A3 S 100A3 5

S 100 calcium-binding proteM A4 S 100A4 5

S100 calcium-bMdMg protem A5 S 100A5 5

S 100 calcium-bMding protein A7 S 100A7 5

S100 calcium-binding protein A8. S 100A8 5

S 100 calcium-bindmg proteM B S 100B 5 S100 calcium-binding protem P S 100P 5

Secretase, alpha 5

Secretase, beta 5

Secretase, gamma 5

Selectin E SELE 5

Selectin L SELL 5

Selectin P SELP 5

Serotomn N-acetyltransferase SNAT 1

Serotomn receptor, 5HT1 A HTR1A 5

Serotomn receptor, 5HT1B HTR1B 5

Serotomn receptor, 5HT1C HTR1C 5

Serotomn receptor, 5HT1D HTR1D 5

Serotomn receptor, 5HT1E HTR1E 5

Serotomn receptor, 5HT1F HTR1F 5

Serotomn receptor, 5HT2A HTR2A 5

Serotomn receptor, 5HT2B HTR2B 5

Serotomn receptor, 5HT2C HTR2C 5

Serotomn receptor, 5HT3 HTR3 5

Serotomn receptor, 5HT4 HTR4 5

Serotomn receptor, 5HT5 HTR5 5

Serotomn receptor, 5HT6 HTR6 5

Serotomn receptor, 5HT7 HTR7 5

Sodium channel, non-voltage gated 1, alpha SCNNIA 5

Sodium channel, non-voltage gated 1, beta SCNNIB 5

Sodium channel, non-voltage gated 1, gamma SCNNIG 5

Sodium channel, voltage-gated, type 1, beta SCN1B 5 polypeptide

Solute carrier family 1 (glutamate transporter), SLC1A1 2 member 1

Solute carrier family 1 (glutamate transporter), SLC1A2 2 member 2

Solute carrier family 12, member 1 SLC12A1 2

Solute carrier family 12, member 2 SLC12A2 2

Solute carrier family 12, member 3 SLC12A3 2

Solute carrier family 8, member 3 SLC 18 A3 2

Solute carrier family 5 (sodium/glucose SLC5A1 2 tiansporter), member 1

Solute carrier family 5 (sodium/glucose SLC5A2 2 transporter), member 2

Solute carrier family 5 (sodium/glucose SLC5A5 2 transporter), member 5

Solute carrier family 5 member 3 SLC5A3 2

Solute carrier family 6 (GAMMA- SLC6A 2

AMINOBUTYRIC ACID tiansporter), member 1

Solute carrier family 6 (neurotiansmifter SLC6A3 2 tiansporter, dopamme), member 3

Solute carrier family 6 (neurotransmifter SLC6A2 2 transporter, noradrenahne), member 2

Solute carrier family 6 (neurotiansmifter SLC6A4 transporter, serotomn), member 4

SphingomyelMase SMPDl 1

Substance P 5

Succimc semi-aidehyde dehydrogenase SSADH 1

Sulfite oxidase SUOX 1

Superoxide dismutase 1 SOD1 1

Superoxide dismutase 3 SOD3 1

Surfeit 1 SURF1 6

Synaptogyrin 5

SynaptophysM SYP 5

Syntaxin 1 STXI 5

Talin TLN 6

Tau protein MAPT 3

TEK, tyrosine kinase, endothelial TEK 1

Telomerase protein component 1

TMombin receptor F2R 4

TMombopoietin THPO 6

TMomboxane A synthase 1 TBXAS1 4

Topoisomerase 1 1

Transforming growth factor, beta 2 TGFB2 6

Transforming growth factor, beta receptor 2 TGFBR2 6

Tumour necrosis factor (TNF) receptor TRAF1 4 associated factor 1

Tumour necrosis factor (TNF) receptor TRAF2 4 associated factor 2

Tumour necrosis factor (TNF) receptor TRAF3 4 associated factor 3

Tumour necrosis factor (TNF) receptor TRAF4 4 associated factor 4

Tumour necrosis factor (TNF) receptor TRAF5 4 associated factor 5

Tumour necrosis factor (TNF) receptor TRAF6 4 associated factor 6

Tumo ur necrosis factor alpha TNFA 4

Tumour necrosis factor alpha receptor TNFAR 4

Tumour necrosis factor beta TNFB 4

Tumour necrosis factor beta receptor TNFBR 4

Tumour protein p53 TP53,P53 6

Tumour proteM p63 TP63 6

Tyrosine amMotiansferase TAT 1

TyrosMe hydroxylase TH 1

Ubiquitin 66

Ubiqmtin B UBB 6

Ubiquitin C UBC 6

Ubiqmtin carboxyl-terminal esterase Ll UCHL1 6 UDP-glucuronosyltransferase 1 ugtld, UGTl UDP-glucuronosyltransferase 2 UGT2 Uridinediphosphate(UDP)-galactose-4- GALE epimerase

Uroporphyrinogen III -synthase UROS 1 Vacuolar proton pump, subimit 1 VPP1 5 Vacuolar proton pump, subumt 3 VPP3 5 Vasoactive Mtestinal polypeptide VIP 5 Vasoactive Mtestinal polypeptide receptor VIPR 5 XantMne dehydrogenase XDH 1

dass die mit psychotischen Störungen und PersöMichkeitsstörungen in Zusammenhang stehenden Gene ausgewäMt sind aus:

Liste der Gene HUGO Protein¬

Gensymbol funktion

11 beta hydroxysteroid dehydrogenase 2 HSD11B2 1

5 , 10-methylenetetrahydrofolate reductase MTHFR 1

(NADPH)

Acetylcholine receptor, nicotimc, alpha AI CHRNAl 5

Acetylcholine receptor, nicotimc, alpha A2 CHRNA2 5

Acetylcholine receptor, nicotimc, alpha A3 CHRNA3 5

Acetylcholme receptor. nicot mc, alpha A4 CHRNA4 5

Acetylcholine receptor, mcotimc, alpha A5 CHRNA5 5 Acetylcholine receptor, mcotimc, alpha A6 CHRNA6 5 Acetylcholine receptor, mcotimc, alpha A7 CHRNA7 5 Acetylcholine receptor, nicotimc, beta 1 CHRNB1 5 Acetylcholine receptor, nicotimc, beta 2 CHRNB2 5 Acetylcholine receptor, nicotMic, beta 3 CHRNB3 5 Acetylcholine receptor, nicotMic, beta 4 CHRNB4 5 Acetylcholine receptor, mcotimc, epsilon CHRNE 5 Acetylcholine receptor, nicotimc, gamma CHRNG 5 Acetylcholinesterase ACHE 1 Adenosine receptor AI ADORA1 5 Adenosine receptor A2A ADORA2A 5 Adenosine receptor A2B ADO 2B 5 Adenosme receptor A3 ADORA3 5 Adenylate cyclase 1 ADCY1 Adenylate cyclase 2 ADCY2 Adenylate cyclase 3 ADCY3 Adenylate cyclase 4 ADCY4 Adenylate cyclase 5 ADCY5 Adenylate cyclase 6 ADCY6

Adenylate cyclase 7 ADCY7

Adenylate cyclase 8 ADCY8

Adenylate cyclase 9 ADCY9

Adenylosuccinate lyase ADSL

Adrenergic receptor, alphal ADRA1 5

Adrenergic receptor, alpha2 ADRA2 5

Adrenergic receptor, betal ADRB1 5

Adrenergic receptor, beta2 ADRB2 5

Adrenergic receptor, beta3 ADRB3 5

AdrenocorticotropMc hormone (ACTH) ACTHR 6 receptor

Albumin, ALB ALB 2 alpha 1-antichymotrypsin AACT 1 alpha-synucleM SNCA 5

Amyloid beta A4 precursor proteM APP 5

Amyloid beta A4 precursor-like protein APLP 5

Apolipoprotein A I APOA1 2

Apolipoprotein A II APOA2 2

Apolipoprotem B APOB 2

Apolipoprotein Cl APOC1 2

Apolipoprotein C2 APOC2 2

ApolipoproteM C3 APOC3 2

Apolipoprotein D APOD 2

Apolipoprotein E APOE 2

ApolipoproteM H APOH 2

Arginosuccinate synthetase ASS 1

Arylsuffatase A ARSA 1

Ataxia telangiectasia gene, AT ATM 6

ATP/ADP tianslocase 1

Atriai natriuretic peptide ANP 6

Atiial natriuretic peptide receptor A NPR1 6

Atiial natriuretic peptide receptor B NPR2 6

Atriai natriuretic peptide receptor C NPR3 6

Bagpipe homeobox, drosopMla homolog of, 1 BAPX1 6 beta-synuclein SNCB 5

Brain derived neurotrophic factor BDNF 6

Brain derived neurotrophic factor (BDNF) BDNFR 6 receptor

Cl inMbitor 1

Ca(2+) tiansportMg ATPase, slow twitch albMdin ATP2A2 2

Calbindm D9K CALB1 6

Calcmeurin AI CALB3 6

Calcineurin A2 CALNA1 4

Calcmeurin A3 CALNA2 4

CalcMeurin B CALNA3 4

Calcitonin/Calcitomn gene-related peptide CALCA 5 alpha

Calcium channel, voltage-dependent, alpha 1 F CACNA IF 5 subimit

Calcium channel, voltage-dependent, Alpha- CACNA IB 5

I B (CNCNL1N5)

Calcium channel, voltage-dependent, Alpha- CACNA IC 5

I C

Calcium channel, voltage-dependent, Nlpha- CACNA ID 5

1 D

Calcium channel, voltage-dependent, Alpha- CACNA 1E 5

I E (CACΝL1A6)

Calcium channel, voltage-dependent, Alpha- CACNA2 5

2/delta

Calcium channel, voltage-dependent, Beta 1 CACNB1 5

Calcium channel, voltage-dependent, Beta 3 CACNB3 5

Calcium channel, voltage-dependent, CACNG2 5

Neuronal, Gamma

Calcium channel, voltage-dependent, T-type 5

Calmodulin 1 CALM1 6

Calmodulin 2 CALM2 6

Calmodulin 3 CALM3 6

CalmodulM-dependant proteM kMase II CAMK2A 6

CalnexM CANX 6

Calpam CAPN, CAPN3 1

Calretmin CALB2 5

Cannabinoid receptor CNR1 5

Carbomc anhydrase 3 CA3 1

Carbomc anhydrase 4 CA4 1

Carbomc anhydrase, alpha CA1 1

Carbomc anhydrase, beta CA2 1

Cardiac-specific homeobox, CSX CSX 6

Caspase 1 CASP1 6

Catechol-o-methyltiansferase COMT 1

Ceroid lipofuscinosis neuronal 2 CLN2 5

Ceroid lipofuscinosis neuronal 3 CLN3 5

Ceroid lipofuscinosis neuronal 4 CLN4 5

Ceroid lipofuscinosis neuronal 5 CLN5 5

Ceroid lipofuscMosis neuronal 6 CLN6 5

Chemokine receptor CCR5 CCR5 4

Chemokine receptor CXCR4 CXCR4 4

Cholecystokmin CCK 5

Cholecystokinin B receptor CCKBR 5

Choline acetyltiansferase CHAT 1

Chymotrypsinogen 1

Ciliary neurotropMc factor (CNTF) CNTF 6

Ciliary neurotropMc factor (CNTF) receptor CNTFR 6

Cittate synthase 1 Colony-stimulating factor 2 CSF2 6

Colony-stimulating factor 2 alpha receptor CSF2RA 6

CorticotiopMn-releasing hormone CRH 2

CorticotropMn-releasmg hormone receptor CRHR1 2

Cu2+ transporting ATPase beta polypeptide ATP7B 1

Cyclic AMP response element bMdMg protem CREB 6

Cyclic AMP-dependent protein kinase PKA

Cyclic nucleotide phosphodiesterase 1 B PDE1B

Cyclic nucleotide phosphodiesterase I B l PDE1B1

Cyclic nucleotide phosphodiesterase 2A3 PDE2A3

Cyclic nucleotide phosphodiesterase 3 A PDE3A

Cyclic nucleotide phosphodiesterase 3B PDE3B

Cyclic nucleotide phosphodiesterase 4A PDE4A

Cyclic nucleotide phosphodiesterase 4C PDE4C

Cyclic nucleotide phosphodiesterase 5A PDE5A

Cyclic nucleotide phosphodiesterase 6A PDE6A

Cyclic nucleotide phosphodiesterase 6B PDE6B

Cyclic nucleotide phosphodiesterase 7 PDE7

Cyclic nucleotide phosphodiesterase 8 PDE8

Cyclic nucleotide phosphodiesterase 9A PDE9A

Cyclooxygenase 1 COX1

Cyclooxygenase 2 COX2

CYP11A1 CYP11A1

CYP11B1 CYP11B1

CYP11B2 CYP11B2

CYP17 CYP17

CYP19 CYP19

CYPIAI CYPIAI

CYP1A2 CYP1A2

CYP1B1 CYP1B1

CYP21 CYP21

CYP24 CYP24

CYP27 CYP27

CYP27B1 PDDR

CYP2A1 CYP2A1

CYP2A13 CYP2A13

CYP2A3 CYP2A3

CYP2A6V2 CYP2A6V2

CYP2A7 CYP2A7

CYP2B6 CYP2B6

CYP2C18 CYP2C18

CYP2C19 CYP2C19

CYP2C8 CYP2C8

CYP2C9 CYP2C9

CYP2D6 CYP2D6

CYP2E1 CYP2E1

CYP2F1 CYP2F1 CYP2J2 CYP2J2

CYP3A3 CYP3A3

CYP3A4 CYP3A4

CYP3A5 CYP3A5

CYP3A7 CYP3A7

CYP4A11 CYP4A11

CYP4B1 CYP4B1

CYP4F2 CYP4F2

CYP4F3 CYP4F3

CYP51 CYP51

CYP5A1 CYP5A1

CYP7A CYP7A

CYP8 CYP8

CystatMonase CTH

CystatMone beta synthase CBS

Cytidine deaminase CDA

Cytidine-5 -prime-triphosphate synthetase CTPS

CytocMome a

CytocMome c

CytocMome c oxidase, MTCO

Delta aminolevulinate dehydratase ALAD

Delta-7-dehydrocholesterol reductase DHCR7

Dihydrolipoamide succinyltiansferase 5

Dopamine beta hydroxylase DBH 1

Dopamine receptors Dl DRD1 5

Dopamine receptors D2 DRD2 5

Dopamine receptors D3 DRD3 5

Dopamme receptors D4 DRD4 5

Dopamine receptors D5 DRD5 5

Endothelin 1 EDN1 5

Endothelin 2 EDN2 5

Endothelin 3 EDN3 5

Endothelin converting enzyme ECE1 5

Endothelin receptor type A EDNRA 5

Endothelin receptor type B EDNRB 5

Enolase ENO1 1

Epidermal growth factor EGF 6

Epidermal growth factor receptor EGFR 6

Excision repair complementation group 4 ERCC4 1 protem

Fibroblast growth factor FGF1 6

Fibroblast growth factor receptor 1 FGFR1 6

Fibroblast growth factor receptor 2 FGFR2 6

Fibroblast growth factor receptor 3 FGFR3 6

Flightless-II, DrosopMla homolog of FLII 6

Fragile site, folic acid type, rare, fra(X) A FRAXA 5

Fragile site, folic acid type, rare, fra(X) E FRAXE 5 Fragile site, folic acid type, rare, fra(X) F FRAXF 5

GABA receptor, alpha 1 GABRA1 5

GABA receptor, alpha 2 GABRA2 5

GABA receptor, alpha 3 GABRA3 5

GABA receptor, alpha 4 GABRA4 5

GABA receptor, alpha 5 GABRA5 5

GABA receptor, alpha 6 GABRA6 5

GABA receptor, beta 1 GABRB1 5

GABA receptor, beta 2 GABRB2 5

GABA receptor, beta 3 GABRB3 5

GABA receptor, gamma 1 GABRGI 5

GABA receptor, gamma 2 GABRG2 5

GABA receptor, gamma 3 GABRG3 5

GABA tiansaminase ABAT 1

GDP dissociation inMbitor 1 GDI 1 6

Gemospasm 1 GSM1 6

Glial-cell derived neurotiopMc factor (GDNF) 5 receptor

Glial-cell derived neurotropMc factor, GDNF GDNF 5

Glutamate decarboxylase, GAD GAD1 1

Glutamate receptor 1 GLUR1 5

Glutamate receptor 2 GLUR2 5

Glutamate receptor 3 GLUR3 5

Glutamate receptor 4 GLUR4 5

Glutamate receptor 5 GLUR5 5

Glutamate receptor 6 GLUR6 5

Glutamate receptor 7 GLUR7 5

Glutamate receptor, ionotropic, NMDA 1 NMDAR1 5

Glutamate receptor, ionotropic, NMDA 2A NMDAR2A 5

Glutamate receptor, ionotropic, NMDA 2B NMDAR2B 5

Glutamate receptor, ionotropic, NMDA 2C NMDAR2C 5

Glutamate receptor, ionotropic. NMDA 2D NMDAR2D 5

Glutaryl-CoA dehydrogenase GCDH 1

GlutatMone GSH 2

GlutatMone S-transferase, GSTZI GSTZI 1

Glyceraldehyde-3 -phosphate dehydrogenase, GAPDH 1

GAPDH

Glycerol kinase GK 1

Glycinamide ribonucleotide (GAR) GART 1 tiansformylase

Gonadotropin releasmg hormone receptor GNRHR 6

Guamdmoacetate N-methyltiansferase GAMT 1

Guamne nucleotide-bmding protein, alpha GNAO1 5 activating activity polypeptide, GNAO

Guamne nucleotide-bmdMg protem, alpha GNAI1 5 inMbiting activity polypeptide 1, GNAI1

Guamne nucleotide-bmdMg protem, alpha GNAI2 5 inMbiting activity polypeptide 2, GNAJ2

Guamne nucleotide-bindmg proteM, alpha GNAI3 5 inMbiting activity polypeptide 3, GNAI3

Guamne nucleotide-bMding protem, alpha GNAS1 5 stimulating activity polypeptide, GNAS1

Guamne nucleotide-binding protem, alpha GNAS2 5 stimulatmg activity polypeptide, GNAS2

Guamne nucleotide-binding protem, alpha GNAS3 5 stimulatmg activity polypeptide, GNAS3

Guamne nucleotide-bindmg protein, alpha GNAS4 5 stimulating activity polypeptide, GNAS4

Guamne nucleotide-bindmg proteM, alpha GNATI 5 transducing activity polypeptide, GNATI

Guamne nucleotide-binding protem, alpha GNAT2 5 transducing activity polypeptide, GNAT2

Guanine nucleotide-binding protein, beta GNB3 5 polypeptide 3

Guamne nucleotide-bMdmg protein, GNAQ 5 polypeptide

Guanylate cyclase 2D, membrane (retina- GUCY2D 1 specific)

Guanylate cyclase activator 1A (retma) GUCA1A 1

Guanylyl cyclase 1

Heat shock protein, HSP60 4

Heat shock protein, HSP70 4

Heat shock protein, HSP90 4

Heat shock protein, HSPA1 4

Heat shock proteM, HSPA2 4

Heparan sulfamidase 1

Hepatic lipase LIPC 1

Histamine receptors, Hl 5

Histamme receptors, H2 5

Histamine receptors, H3 5

HMG-CoA reductase HMGCR 1

Huntingtin HD 2

HypoxantMne-guan e HPRT 1 phosphoribosyltiansferase, HGPRT

Hypoxia inducible factor 1 HIF1A 1

Hypoxia mducible factor 2 1

Mositol monophosphatase IMPA1 5

Insulm INS 6

Insulin receptor INSR 6

MterleukinQL) 1 receptor IL1R 4

MterleukinQL) 1, alpha IL1A 4

MterleukinQL) 1, beta IL1B 4

Interleukin(IL) 10 IL10 4

MterleukinQL) 10 receptor IL10R 4 InterleukMQL) 11 IL11 4 MterleukM(IL) 11 receptor IL11R 4 Interleukin(IL) 12 IL12 4 MterleukinQL) 12 receptor, beta 1 IL12RB1 4 Mterleukin(IL) 13 IL13 4 InterleukM(IL) 13 receptor IL13R 4 MterleukinQL) 2 IL2 4 MterleukinQL) 2 receptor, alpha IL2RA 4 MterleukinQL) 2 receptor, gamma IL2RG 4 MterleukinQL) 3 IL3 4 MterleukinQL) 3 receptor IL3R 4 InterleukMQL) 4 IL4 4 MterleukinQL) 4 receptor IL4R 4 InterleukMQL) 5 IL5 4 InterleukMQL) 5 receptor IL5R 4 MterleukinQL) 6 IL6 4 InterleukMQL) 6 receptor IL6R 4 lnterleukin(IL) 7 IL7 4 MterleukinQL) 7 receptor IL7R 4 MterleukinQL) 8 IL8 4 InterleukMQL) 8 receptor IL8R 4 lnterleukin(IL) 9 IL9 4 MterleukinQL) 9 receptor IL9R 4 MterleukinQL) receptor antagomst 1 IL1 RN, IL1RA 4 IP3 kinase 1 LeukM 4

Mismatch repair gene, PMSL2 PMS2 6 Monoamine oxidase A MAOA 1 Monoamine oxidase B MAOB 1 Muscarimc receptor, Ml CHRM1 5 Muscarimc receptor, M2 CHRM2 5 Muscarimc receptor, M3 CHRM3 5 Muscarimc receptor, M4 CHRM4 5 Muscarimc receptor. M5 CHRM5 5

Myelin basic protein 3 Myosm, light chain 3 MYL3 3 reductase

Nerve growth factor NGF 6 Nerve growth factor receptor NGFR 6 Neurite inMbitory protein 5 Neurofibromin 1 NF1 6 Neurofibromin 2 NF2 6 Neurofilament protein, NF68 NF68 3 Neurokimn A NKNA 5 Neurok M B NKNB 5 Neuropeptide Y NPY 5 Neuropeptide Y receptor Yl NPY1R 5

Neuropeptide Y receptor Y2 NPY2R 5

Neurotensm NTS 5

Neurotens receptor NTSR1 5

Nitric oxide synthase 1, NOSl NOSl 1

Nitric oxide synthase 2, NOS2 NOS2 1

Nitiic oxide synthase 3, NOS3 NOS3 1

Nucleoside diphosphate kinase-A NDPKA 1

Oncogene sis PDGFB 6

Opioid receptor, delta OPRD1 5

Opioid receptor, kappa OPRKI 5

Opioid receptor, mu OPRMI 5

OrmtMne delta-aminotiansferase OAT 1

Paraoxonase PONI PONI 1

Parkin PARK2 5

Phospholipase A2, group 10 PLA2G10 4

Phospholipase A2, group IB PLA2G1B 4

Phospholipase A2, group 2A PLA2G2A 4

Phospholipase A2, group 2B PLA2G2B 4

Phospholipase A2, group 4A PLA2G4A 4

Phospholipase A2, group 4C PLA2G4C 4

Phospholipase A2, group 5 PLA2G5 4

Phospholipase A2, group 6 PLA2G6 4

Phospholipase C alpha 4

Phospholipase C beta 4

Phospholipase C delta PLCD1 4

Phospholipase C epsilon 4

Phospholipase C gamma PLCG1 4

Platelet derived growth factor PDGF 6

Platelet derived growth factor receptor PDGFR 6

Potassium inwardly-rectifying channel Jl KCNJL 5

POU domain, class 1, tianscription factor 1 POUIFI 6

(Pitl)

Presemlin 1 PSEN1 2

Presemlin 2 PSEN2 2

Prion protein PRNP 5

Proline dehydrogenase PRODH 1

Proopiomelanocortin POMC 5

Prosaposin PSAP 5

Protective protem for beta-galactosidase PPGB

ProteM kMase C, alpha PRKCA

Protein kinase C, gamma PRKCG

Protein kinase G

Protein phosphatase 1, regulatory (inMbitor) PPP1R3 subimit 3

Proteolipid protein PLP 5

RIGUI RIGUI 6 S100 calcium-bindmg proteM A2 S100A2 5

S100 calcium-bmding protem A3 S100 A3 5

S100 calcium-binding protem A4 S100A4 5

S100 calcium-bmdmg protem A5 S100A5 5

S100 calcium-bmdMg protem A7 S100A7 5

S100 calcium-bmdmg proteM A8 S100A8 5

S 100 calcium-bindmg protein A9 S100A9 5

S100 calcium-bmding protem B S100B 5

S100 calcium-bmding protein P S100P 5

Secretase, alpha 5

Secretase, beta 5

Secretase, gamma 5

Serotomn N-acetyltransferase SNAT 1

Serotomn receptor, 5HT1 A HTR1A 5

Serotomn receptor, 5HT1B HTR1B 5

Serotomn receptor, 5HT1C HTR1C 5

Serotomn receptor, 5HT1D HTR1D 5

Serotomn receptor, 5HT1E HTR1E 5

Serotomn receptor, 5HT1F HTR1F 5

Serotomn receptor, 5HT2A HTR2A 5

Serotomn receptor, 5HT2B HTR2B 5

Serotomn receptor, 5HT2C HTR2C 5

Serotomn receptor, 5HT3 HTR3 5

Serotomn receptor, 5HT4 HTR4 5

Serotomn receptor, 5HT5 HTR5 5

Serotomn receptor, 5HT6 HTR6 5

Serotomn receptor, 5HT7 HTR7 5

Sodium channel, non-voltage gated 1, alpha SCNNIA 5

Sodium channel, non-voltage gated 1, beta SCNNIB 5

Sodium channel, non-voltage gated 1, gamma SCNNIG 5

Sodium channel, voltage-gated, type 1, beta SCN1B 5 polypeptide

Solute carrier family 12, member 1 SLC12A1 2

Solute carrier family 12, member 2 SLC12A2 2

Solute carrier family 12, member 3 SLC12A3 2

Solute carrier family 4 (amon exchanger), SLC4A1 2 member 1

Solute carrier family 4 (amon exchanger), SLC4A2 2 member 2

Solute carrier family 4 (amon exchanger), SLC4A3 2 member 3

Solute carrier family 5 (sodium/glucose SLC5A1 2 tiansporter), member 1

Solute carrier family 5 (sodium/glucose SLC5A2 2 tiansporter), member 2

Solute carrier family 5 (sodium/glucose SLC5A5 2 transporter), member 5 Solute carrier family 5, member 3 SLC5A3 2

Solute carrier family 6 (GAMMA- SLC6A2 2

AMINOBUTYRIC ACID tiansporter), member 1

Solute carrier family 6 (neurotiansmitter SLC6A3 2 tiansporter, dopamine), member 3

Solute carrier family 6 (neurotiansmitter SLC6A2 2 tiansporter, noradrenaline), member 2

Solute carrier family 6 (neurotiansmitter SLC6A4 2 transporter, serotomn), member 4

Superoxide dismutase 1 SOD1 1

Superoxide dismutase 3 SOD3 1

Synapsin la & lb SYN1 5

Synapsin 2a & 2b SYN2 5

Synaptic vesicle amine tiansporter SVAT 5

Synaptogyrin 5

Synaptophysin SYP 5

Synaptosomal-associated protein, 25KD SNAP25 5

Syntaxin 1 STX1 5

Tachykmin receptor, NK1R TACR1 5

Tachykimn receptor, NK2R TACR2 5

Tachykimn receptor, NK3R TACR3 5

Talin TLN 6

TEK, tyrosine kinase, endothelial TEK 1

Telomerase protem component 1

Transcobalamin 1, TCN1 2

TranscobalamM 2, TCN2 TCN2 2

Transcription factor, TUPLE1 TUPLE1 5

Transforming growth factor, beta 2 TGFB2 6

Transforming growth factor, beta induced TGFBI 6

Transforming growth factor, beta receptor 2 TGFBR2 6

Transthyretin TTR 2

Trypsin inMbitor 1

Tryptophan 2,3-dioxygenase TDO2 5

Tryptophan hydroxylase TPH 1

Tumour necrosis factor (TNF) receptor TRAF1 4 associated factor 1

Tumour necrosis factor (TNF) receptor TRAF2 4 associated factor 2

Tumour necrosis factor (TNF) receptor TRAF3 4 associated factor 3

Tumour necrosis factor (TNF) receptor TRAF4 4 associated factor 4

Tumour necrosis factor (TNF) receptor TRAF5 4 associated factor 5

Tumour necrosis factor (TNF) receptor TRAF6 4 associated factor 6

Tumour necrosis factor alpha TNFA 4 Tumour necrosis factor alpha receptor TNFAR 4

Tumour necrosis factor beta TNFB 4

Tumour necrosis factor beta receptor TNFBR 4

TyrosMase TYR 1

Tyrosme hydroxylase TH 1

Ubiquitin 6

Ubiquitin activating enzyme, El 1

Ubiquitin B UBB 6

Ubiquitin C UBC 6

Ubiquitin protein ligase E3 A UBE3A 1

UDP-glucuronosyltransferase 1 ugtld, UGTI 1

UDP-glucuronosyltiansferase 2 UGT2 1

Uridinediphosphate(UDP)-galactose-4- GALE 1 epimerase

Vacuolar proton pump, subimit 1 VPP1 5

Vacuolar proton pump, subimit 3 VPP3 5

Vesicular monoamine tiansporter 1 VMAT1 5

Vesicular monoamine tiansporter 2 VMAT2 5

dass die mit kardiovaskulärer Krankheit, FeMfunktion oder Schädigimg in Zusammenhang stehenden Gene ausgewäMt sMd aus:

Liste der Gene HUGO Protein¬

Gensymbol funktion

17beta hydroxysteroid oxidoreductase 1

2,3-bisphosphoglycerate mutase BPGM

3 beta hydroxysteroid dehydrogenase 2 HSD3B2

3-oxoacid CoA transferase OXCT

5,10-methylenetetrahydrofolate reductase MTHFR

(NADPH)

Acetoacetyl 1-CoA-tMolase ACATl

Acetoacetyl 2-CoA-tMolase ACAT2

Acetyl CoA acyltransferase ACAA

Acety[cholMesterase ACHE

Acid phosphatase 2, lysosomal ACP2

Acidic amino acid transporter 2

Actin, alpha, cardiac ACTC 3

Actin, alpha, skeletal ACTAL 3

Actin, alpha, smooth, aortic ACTA2 3

Activin A receptor, type 2B ACVR2B 6

Acyl CoA dehydrogenase, long chain ACADL 1

Acyl CoA dehydrogenase, very long cham ACADVL 1

Adaptin, beta 3A ADTB3A 2 AdducM, alpha ADDI 3

Adducin, beta ADD2 3

Adenosine deammase ADA 1

Adenosme receptor AI ADORAL 5

Adenosine receptor A2A ADORA2A 5

Adenosine receptor A2B ADORA2B 5

Adenosine receptor A3 ADORA3 5

Adenylate cyclase I ADCYT

Adenylate cyclase 2. ADGY2

Adenylate cyclase 3 ADCY3

Adenylate cyclase 4 ADCY4

Adenylate cyclase 5 ADCY5

Adenylate cyclase 6 ADCY6

Adenylate cyclase 7 ADCY7

Adenylate cyclase 8 ADCY8

Adenylate cyclase 9 ADCY9

Adenylate kinase AK1

Adrenergic receptor, alphal ADRAI 5

Adrenergic receptor, alpha2 ADRA2 5

Adrenergic receptor, betal ADRB1 5

Adrenergic receptor, beta2 ADRB2 5

Adrenergic receptor, beta3 ADRB3 5

AdrenocorticotiopMc hormone (ACTH) ACTHR 6 receptor

Alamne ammotiansferase 2

Alamne-glyoxylate aminotransferase AGXT 1

AlbumM, ALB ALB 2

Alcohol dehydrogenase 1 ADHL

Alcohol dehydrogenase 2 ADH2

Alcohol dehydrogenase 3 ADH3 F=

Alcohol dehydrogenase 5 ADH5

Alcohol dehydrogenase 6 ADH6

Alcohol dehydrogenase 7 ADH7

Aidehyde dehydrogenase 1 ALDHL

Aidehyde dehydrogenase 10 ALDH10

Aidehyde dehydrogenase 2 ALDH2

Aldehyde dehydrogenase 5 ALDH5

Aldehyde dehydrogenase 6 ALDH6

Aldehyde dehydrogenase 7 ALDH7

Aldolase A ALDOA

Aidolase B ALDOB

Aldolase C ALDOC

Aldosterone receptor MLR 6

Alpha 1 acid glycoprotein G; AGP 2

Alpha 2 macroglobulin A2M 4 alphal-antitrypsM Pi 1 alpha2-antiplasιmn PLI 1 a pha-actinin 2 NCTN2 6 alpha-actimn 3 ACTN3 6 alpha-Galactosidase A GLA 1 alpha-L-Iduromdase IDUA 1

Am opeptidase P XPNPEP2 1

AmpMregulin AREG 6

Amylo- 1 ,6-glucosidase AGL 1

Angiopoietin 1 ANGPT1 6

AngiopoietM 2 ANGPT2 6

Angiotensin converting enzyme ACE,DCPL 1

Angiotensin receptor 1 AGTRI 2

Angiotensi 'n receptor 2 AGTR2 2

Angiotensinogen AGT 1

Ankyrin 1 ANKI 3

Ankyrin 2 ANK2 3

Ankyrin 3 ANK3 3

Annexin I ANXI 4

Antidiuretic hormone receptor ADHR 2

AntitMombin III AT3 1

Apolipoprotein (a) LPA 2

Apolipoprotein A 4 APOA4 2

Apolipoprotein A I APOAI 2

Apolipoprotein A l l APOA2 2

ApolipoproteM B APOB 2

Apolipoprotein Cl APOCI 2

Apolipoprotein C2 APOC2 2

Apolipoprotein C3 APOC3 2

ApolipoproteM D APOD 2

Apolipoprotein E APOE 2

Apolipoprotein H APOH 2

Aquaporin I AQPL 2

Aquaporin 2 AQP2 2

Argimne vasopressin AVP 5

Argimne vasopressin receptor 1 A AVPRLA 5

Argimne vasopressin receptor IB AVPRLB 5

Argimne vasopressin receptor 2 AVPR2 5

ArgMosuccMate lyase ASL 1

Arylsuffatase B ARSB 1

Aspartylglucosammidase AGA 1

Ataxia telangiectasia gene, AT ATM 6

ATP/ADP tiansiocase 1

ATP-bindmg cassette tiansporter 7 ABC7 4

Atiial natriuretic peptide ANP 6

Atiial natriuretic peptide receptor A NPRL 6

Atiia natriuretic peptide receptor B NPR2 6

Atiial natriuretic peptide@ receptor C NPR3 6

Autoimmune regulator, AIRE AIRE 4 BCL2-related proteM AI BCL2AI beta 2 microglob@ulm B2M beta-endorpMn receptor

N

Bile acid coenzyme A: amino acid N- BAAT acyltiansferase

Bile salt export pump BSEP, PFIC2 2

Bile salt-stimulated lipase CEL 1

Bilimbin UDP-glucuronosyltransferase 1

Bloom syndrome protem BLM 6

Bradykimn receptor BI

Bradykmin receptor B2

Butyrylcholmesterase BCHE 1

Ca(2+) tiansportMg ATPase, fast twitch ATP2AI 2

Ca(2+) transportmg ATPase, slow twitch ATP2A2 2

Cadherin E CDHL 6

Cadherin EP 6

Cadherin N CDH2 6

Cadherin P CDH3 6

Calbindin I CALB1 6

CalbMdM D9K CALB3 6

Calcineurin AI CALNAL 4

Calcineurin A2 CALNA2

Calcineurin A3 CALNA3

Calcineurin B

Calcium channel, voltage-dependent, alpha CACNAL F 5

1 F subumt

Calcium channel, voltage-dependent, Alpha- CACNAIB 5

1B (CACNL1A5)

Calcium channel, voltage-dependent, Alpha- CACNAL C 5

I c

Calcium channel, voltage-dependent, Alpha- CACNALD 5

1 D

Calcium channel, voltage-dependent, Alpha- CACNALE 5

1E (CACNLIA6)

Calcium channel, voltage-dependent, Alpha- CACNA2 5

2/delta

Calcium channel, voltage-dependent, Beta 1 CACNBI 5

Calcium channel, voltage-dependent, Beta 3 CACNB3 5

Calcium channel, voltage-dependent, L type, CACNAL S 5 alpha IS sub mit

Calcium channel, voltage-dependent, CACNG2 5

Neuronal, Gamma

Calcium channel, voltage-dependent, P/Q CACNALA 5 type, alpha 1A subimit

Calcium channel, voltage-dependent, T-type

Calmodulin I CALMI Calmodutin 2 CALM2 6

Calmodulm 3 CALM3 6

Calmodulin-dependant protein Idnase 11 CAMK2A 6

Calpain CAPNCAPN3 1

Calretimn CALB2 5

Carbomc anhydrase 3 CA3 1

Carbomc anhydrase 4 CA4 1

Carbomc anhydrase, alpha CA1 1

Carbomc anhydrase, beta CA2 1

Carboxypeptidase CPN 1

Cardiac-specific homeobox, CSX CSX 6

Camitine acylcarmtine tianslocase CACT 1

Camitine transporter protein CDSP,SCD 2

Cartilage-hair hypoplasia gene CHH 5

Catechol-O-methyltransferase COMT 1

Caveolin 3 CAV3 1

CD1 CDI

CD4 CD4

Cdc 25 phosphatase 6

Cell adhesion molecule, mtercellular, ICAM ICAMI 6

Cell adhesion molecule, leukocyte- LECAMl 6 endotheiial, LECAM (CD62)

Cell adhesion molecule, liver, LCAM LCAM 6

Cell adhesion molecule, neural, NCAMl NCAMl 6

Cell adhesion molecule, neural, NCAM2 NCAM2 6

Cell adhesion molecule, platelet-endothelial, PECAMl 6

PECAM

Cell adhesion molecule, vascular, VCAM VCAMl 6

Cellubrevin CEB 5

Ceroid lipofuscinosis neuronal 3 CLN3 5

Ceruloplasmin precursor CP 1

Chemokine receptor CCR2 CCR2

Chemokine receptor CCR3 CCR3

Chemokine receptor CCR5 CCR5

Chemokine receptor CXCRI CXCRI

Chemokine receptor CXCR2 CXCR2

Chemokme receptor CXCR4 CXCR4

CMoride channel KB CLCNKB 3

Cholestasis, progressive familial trahepatic FICI 6

1 gene

Cholesterol ester transfer protein CETP 2

CholMe acetyltransferase CHAT 1

Chymase CHYT

Clat M 2

Cockayne syndrome gene, CKNI CKNI 6

Collagen I alpha 1 COLIAL 3

Collagen I alpha 2 COLIA2 3 Collagen 11 alpha 1 COL2AI 3

Collagen III alpha 1 COL3A1 3

Collagen IN alpha 1 COL4AI 3

Collagen IV alpha 2 COL4A2 3

Collagen IV alpha 3 COL4A3 3

Co lagen IV alpha 4 COL4A4 3

Collagen IV alpha 5 COL4A5 3

Collagen IV alpha 6 COL4A6 3

Collagen IX alpha 2 COL9A2, EDM2 3

Collagen IX alpha 3 COL9A3 3

Collagen receptor COLR 3

Collagen V alpha 1 COL5AI 3

Collagen V alpha 2 COL5A2 3

Collagen VI alpha 1 COL6A1 3

Collagen VI alpha 2 COL6A2 3

Collagen VI alpha 3 COL6A3 3

Collagen VII alpha 1 COL7A1 3

Collagen X alpha I COL1OA1 3

Collagen X alpha 1 COLI 1A1 3

Collagen Xi alpha 2 COLL IA2 3

Collagen XVII alpha l COL17AI 3

Collagenic-like tail subimit of asymmetric COLQ 1 acetylcholinesterase

Colony-stimulating factor 2 beta receptor CSF2RB 6

Colony-stimulating factor 3 CSF3 6

Colony-stimulating factor 3 receptor CSF3R 6

Corticosteroid binding globulm CBG 5

Cortico-sterold binding protein 2

CorticotiopMn-releasing hormone CRH 2

CorticotiopMn-releasMg hormone receptor CRHR1 2

Creb binding protein CREBBP 6

Cu2+ transporting ATPase alpha polypeptide ATP7A 1

Cu2+ transporting ATPase beta polypeptide ATP7B 1

Cubilin CUBΝ 2

Cyclic AMP-dependent protem Idnase PKA 1

Cyclin-dependent Idnase 2 CDK2 6

Cyclm-dependent kinase inMbitor IC (P57, CDKΝIC 6

KIP2)

Cyclooxygenase I coxi

Cyclooxygenase 2 COX2

CYPL 1A1 CYP11A1

CYPL 1 Bl CYP11B1

CYPI 1 B2 CYP11B2

CYP17 CYP17

CYP19 cypig

CYPIAI CYPIAI

CYP1A2 CYPIA2 CYPIBL CYPIBI

CYP21 CYP21

CYP24 CYP24

CYP27 CYP27

CYP27BI PDDR

CYP2NI CYP2AI

CYP2A13 CYP2A13

CYP2A3 CYP2A3

CYP2A6V2 CYP2A6V2

CYP2A7 CYP2A7

CYP2B6 CYP2B6

CYP2C18 CYP2C18 F-

CYP2CI9 CYP2C19

CYP2C8 CYP2C8

CYP2C9 CYP2C9

CYP2E1 CYP2E1

CYP2F1 CYP2FI

CYP2J2 CYP2J2

CYP3A3 CYP3A3

CYP3A4 CYP3A4

CYP3A5 CYP3A5

CYP3A7 CYP3A7

CYP4AI1 CYP4A11

CYP4B1 CYP4BI

CYP4F2 CYP4F2

CYP4F3 CYP4F3

CYP51 CYP51

CYP5AI CYP5A1

CYP7A CYP7A

CYP8 CYP8

CystatMonase CTH

CystatMone beta synthase CBS

Cytidine deaminase CDA

Cytidine-5-prime-triphosphate synthetase CTPS

CytocMome a 1

CytocMome b-5 CYB5 1

CytocMome c 1

CytocMome c oxidase, MTCO 1

DAXl nuclear receptor DAXl 4

Delta aminolevulMate dehydratase ALAD 1

Delta(4)-3 -oxosteroid 5-beta-reductase 1

Delta-7-dehydrocholesterol reductase DHCR7 1

Deoxycorticosterone (DOC) receptor 1

Desmin DES 3

Dihydrodiol dehydrogenase 1 DDHL 1 Dihydrofolate reductase DHFR 1 Dihydrolipoyl dehydrogenase 1 Dihydrolipoyl dehydrogenase 2 PDHA

Dihydrolipoyl tiansacetylase PDHA

DM-Kinase DMPK

DOPA decarboxylase DDC

DopamMe beta hydroxylase DBH

Dopamine receptors DI DRD1 5

DopamMe receptors D2 DRD2 5

Dopamine receptors D3 DRD3 5

DopamMe receptors D4 DRD4 5

Dopamine receptors D5 DRD5 5

Duffy blood group FY 2

Dynamin DNMI 6

DystropMa myotomca DM, DMPK 1

DystropMa myotomca, atypical DM2 1

DystropMn DMD 3

Elastin ELN 3

Emerin EMD 2

Endocardial fibroelastosis 2 gene EFE2 3

Endoglin ENG 3

Endometrial bleeding-associated factor EBAF 6

EndothelM 1 EDN1 5

Endothelin 2 EDN2 5

Endothelin 3 EDN3 5

Endothelin convertMg enzyme ECE1 5

Endothelin receptor type A EDNRA 5

Endothelm receptor type B EDNRB 5

Enolase EN01 1

Enoyl CoA isomerase 1

Ephrin receptor tyrosine kinase A EPHA 6

EpMM receptor tyrosMe kinase B EPHB 6

Epidermal growth factor EGF 6

Epidermal growth factor receptor EGFR 6

ErytMocyte membrane protein band 4.1 EPB41 3

ErytMocyte membrane protein band 4.2 EPB42 3

ErytMocyte membrane protein band 7.2 EPB72 3

ErytMoid kruppel-like factor EKLF 6

ErytMopoietin EPO

ErytMopoietin receptor EPOR

Estiogen receptor ESR 6

Faciogemtal dysplasia FGD1, FGDY 2

Factor 1 (No. one) FI

Factor B, properdin

Factor D

Factor H HFI

Factor I (letter 1) IF

Factor III F3

Factor IX F9 Factor V F5

Factor VI I F7 4

Factor VI II F8 4

Factor X F10 4

Factor Xi Fil 4

Factor XI I F12 4

Factor XIII A & B F13A & F13B 4

Fancom anemia, complementation group A FANCA 2

Fancom anemia, complementation group C FANCC 2

Fancom anemia, complementation group D FANCD 2

Fatty acid binding proteins FABPI 2

Fatty acid binding proteins FABP2 FABP2 2

Fatty acid bindMg proteins FABP3 2

Fatty acid bmding proteins FABP4 2

Fatty acid bMding proteins FABP5 2

Fatty acid bindMg proteins FABP6 2

Fc fragment of IgG, Mgh affimty IA, receptor FCGRIA 6 for

Fc fragment of IgG, low affimty Ila, receptor FCGR2A 6 for (CD32)

Fc fragment of IgG, low affimty lila, receptor FCGR3A 6 for (CD 1 6)

Fibrillin 1 FBNI 6

FibrillM 2 FBN2 6

Fibrinogen alpha FGA 3

Fibrinogen beta FGB 3

Fibrinogen gamma FGG 3

Fibroblast growth factor FGFI 6

Fibroblast growth factor receptor 1 FGFRI 6

Fibroblast growth factor receptor 2 FGFR2 6

Fibroblast growth factor receptor 3 FGFR3 6

Fibronectin precursor FNI 6

Flightless-11, DrosopMla homolog of FLII 6

Follicle stimulating hormone receptor FSHR,ODGl 6

Follicle stimulating hormone, FSH FSHB 6

Formiminotiansferase 1

Fragile site, folic acid type, rare, fra(X) A FRAXA 5

Fucosidase alpha-L-2 1

Fucosyltransferase 2 FUT2 2

Fucosyltransferase 3 FUT3 2

Fucosyltransferase 6 FUT6 2

Fukuyama type congemtal muscular FCMD 6 dystiophy

GABA receptor, alpha 1 GABRAL 5

GABA receptor, alpha 2 GABRA2 5

GABA receptor, alpha 3 GABRA3 5

GABA receptor, alpha 4 GABRA4 5 GABN receptor, alpha 5 GABRA5 5

GABN receptor, alpha 6 GABRA6 5

GABA receptor, beta I GABRB1 5

GABA receptor, beta 2 GABRB2 5

GABA receptor, beta 3 GABRB3 5

GABA receptor, gamma 1 GABRGI 5

GABA receptor, gamma 2 GABRG2 5

GABA receptor, gamma 3 GABRG3 5

GABN transaminase ABAT 1

Galactose 1 -phosphate uridyl-transferase GALT 1

Galactosyltransferase I GTI 6

Galactosyltransferase, alpha 1,3 GGTAL 6

Galactosyltransferase, beta 3 B3GALT 6

Ga amn GAL 5

Galamn receptor GALΝRI 5

Gamma-glutamyl carboxylase GGCX 2

Gap junction protein alpha I GJAL 2

Gap junction protein beta I GJBL 2

Gap junction protein beta 2 GJB2 2

Glucocorticoid receptor GRL 6

Glucosaminyl (Ν-acetyl) transferase 2, 1- GCΝT2 1 brancMng enzyme

Glucosidase, acid alpha GAA 1

Glucosidase, acid beta GBA 1

Glutamate decarboxylase, GND GAD1 1

Glutamate receptor 1 GLURI 5

Glutamate receptor 2 GLUR2 5

Glutamate receptor 3 GLUR3 5

Glutamate receptor 4 GLUR4 5

Glutamate receptor 5 GLUR5 5

Glutamate receptor 6 GLUR6 5

Glutamate receptor 7 GLUR7 5

Glutamate receptor, ionotropic, ΝMDA 1 NMDAR1 5

Glutamate receptor, ionotropic, ΝMDA 2A NMDAR2A 5

Glutamate receptor, ionotropic, ΝMDA 2B NMDAR2B 5

Glutamate receptor, ionotropic, ΝMDA 2C NMDAR2C 5

Glutamate receptor, ionotropic, ΝMDA 2D NMDAR2D 5

Glutamate-cysteine ligase GLCLC

Glutaryi-CoA dehydrogenase GCDH

GlutatMone GSH

GlutatMone peroxidase, GPXI GPXL

GlutatMone reductase, GSR GSR

GlutatMone S-transferase, GSTZI GSTZI

Glyceraldehyde-3 -phosphate GAPDH dehydrogenase, GAPDH

Glycerol Idnase GK

Glycmamide ribonucleotide (GAR) GART tiansformylase

Glycophorin A GYPA 3

Glycophorin B GYPB 3

Glycophorin C GYPC 3

Glycosyltiansferases, ABO blood group ABO 1

Growth arrest-specific homeobox GAX 6

Guamne nucleotide-bindmg protem, alpha GNAOI 5 activating activity polypeptide, GNAO

Guamne nucleotide-bindmg protein, alpha GNA11 5

MMbiting activity polypeptide 1, GNAII

Guamne nucleotide-binding protein, alpha GNA 2 5 inMbiting activity polypeptide 2, GNA12

Guamne nucleotide-bmding protein, alpha GNA13 5 inMbiting activity polypeptide 3, GNA13

Guamne nucleotide-bMding proteM, alpha GNAS1 5 stimulating activity polypeptide, GNAS1

Guamne nucleotide-binding protem, alpha GNAS2 5 stimulating activity polypeptide, GNAS2

Guamne nucleotide-bindMg protein, alpha GNAS3 5 stimulatmg activity polypeptide, GNAS3

Guamne nucleotide-bmding protein, alpha GNAS4 5 stimulating activity polypeptide, GNAS4

Guanine nucleotide-bMding proteM, beta GNB3 5 polypeptide 3

Guamne nucleotide-binding protein, gamma GNG5 5 polypeptide 5

Guamne nucleotide-bmding proteM, q GNAQ 5 polypeptide

Guanylyl cyclase 1

H(+), K(+) - ATPase ATP4B 5

Haemoglobin alpha I HBAL 2

Haemoglobin alpha 2 HBA2 2

Haemoglobin beta HBB 2

HaemoglobM delta HBD 2

Haemoglobin epsilon 2

HaemoglobM gamma A HBGL 2

Haemoglobin gamma 8 HBG2 2

Haemoglobin gamma G HBGG 2

Haptoglobin, alpha 1 HPAI

HaptoglobM, alpha 2 HPA2

Haptoglobin, beta HPB

Heat shock protein, HSP60

Heat shock proteM, HSP70

Heat shock proteM, HSP90

Heat shock proteM, HSPAI

Heat shock protein, HSPA2

HemocMomatosis HFE Hemopexm HPX 4

Heparan sulfamidase 1

Heparin binding epidermal growth factor HBEGF 6

Heparin Cofactor 11 HCF2 4

Hepatic lipase LIPC 1

Hermansky-pudiak syndrome gene HPS 2

Hexokinase 1 HKI 1

Hexosamimdase A HEXA,TSD 1

Hexosamimdase B HEXB 1

Histidine-rich glycoprotein HRG 2

HLA-B associated transcript 1 BATI 4

HLH transcription factor HAND1 HAND1 6

HLH transcription factor HAND2 HAND2 6

HMG-COA lyase HMGCL 1

HMG-COA reductase HMGCR 1

HMG-COA synthase HMGCS2 1

Homeobox (HOX) gene AI 3 HOXA13 6

Homeobox HB24 HLXL 6

Hormone-sensitive lipase HSL 1

Human choriomc gonadtropMn, hCG CG 6

Human placental lactogen CSHI 6

HypoxantMne-guamne HPRT 1 phosphoribosyltransferase, HGPRT

Hypoxia inducible factor I HiFlA 1

Hypoxia inducible factor 2 1

IC7 A and B 4

Iduronate 2 sulphatase IDS 1

Indian hedgehog, ihh IHH 6

Mosme tiiphosphatase ITPA 1

Inositol 1,4,5-triphosphate receptor 1 ITPRL 6

Inositol 1,4,5-triphosphate receptor 3 ITPR3 6

Inositol monophosphatase IMPAL 5

Inositol polyphosphate 1 -phosphatase INPPI 5

Insulin INS 6

Msulin receptor INSR 6

Insulin receptor Substrates IRS1 6

Insulin-like growth factor 1 IGF1 6

Insulin-like growth factor 1 receptor IGF1 R 6

Insulin-like growth factor 2 IGF2 6

Insulin-like growth factor 2 receptor IGF2R 6

Mtegrin beta 1 ITGBL 6

Mtegrin beta 2 ITGB2 6

Integrin beta 3 ITGB3 6

Integrin beta 4 ITGB4 6

Integrin beta 5 ITGB5 6

Mtegrin beta 6 ITGB6 6

Integrin beta 7 ITGB7 6 Integrin, alpha 1 ITGAL 6 Mtegrin, alpha 2 ITGA2 6 Integrin, alpha 3 ITGA3 6 Mtegrin, alpha 4 ITGA4 6 Integrin, alpha 5 ITGA5 6 Mtegrin, alpha 6 ITGA6 6 Integrin, alpha 7 ITGA7 6 Mtegrin, alpha 8 ITGA8 6 Mtegrin, alpha 9 ITGA9 6 Integrin, alpha M ITGAM 6 Integrin, alpha X ITGAX 6

Inter-alpha-tiypsin inMbitor, IATI 1 Intercellular adhesion molecule 1 ICAMI Intercellular adhesion molecule 2 ICAM2 Intercellular adhesion molecule 3 ICAM3 Mterferon alpha IFNAI Interferon beta IFNB Mterferon gamma IFNG Interferon gamma receptor 1 IFNGRL Mterferon gamma receptor 2 IFNGR2 MterleukinQL) 1 receptor IL1 R Mterieukin(IL) 1, alpha ILLA Mterieukin(IL) 1, beta ILLB MterieukinQL) 10 ILIO MterleukinQL) 10 receptor ILIOR IntedeukinQL) 1 1 IL1 1 MterieukM(IL) 1 1 receptor ILIIR IntedeukinQL) 12 IL12 Intedeukin(IL) 12 receptor, beta 1 IL12RB1 4 Mtedeukin(IL) 13 IL13 4 Interfeukin(IL) 13 receptor IL13R . 4 IntedeukinQL) 2 IL2 4 MterleukinQL) 2 receptor, alpha IL2RA 4 MterleukinQL) 2 receptor, gamma IL2RG 4 MterleukinQL) 3 IL3 Interleuldn(IL) 3 receptor IL3R MterieukinQL) 4 IL4 Interieukin(IL) 4 receptor IL4R MterieukinQL) 5 IL5 MterleukinQL) 5 receptor IL5R MtedeukMQL) 6 IL6 MterieukMQL) 6 receptor IL6R InterleukMQL) 7 IL7 MterieukMQL) 7 receptor IL7R MterieukMQL) 8 IL8 MtedeukMQL) 8 receptor IL8R 4 MterfeukM(IL) 9 IL9 4 MterieukMQL) 9 receptor IL9R

MterieukinQL) receptor antagomst 1 1L1RN, ILLRA

IP3 Idnase 1

Isovaleric acid CoA dehydrogenase IVD 1

Kallikrein 3 KAK3 4

Kell blood group precursor XK, KEL 2

Ketohexokinase KHK 1

Kimnogen, High molecular weight KNG 4

Kynuremnease 1

Lactate dehydrogenase, A LDHA 1

Lactate dehydrogenase, B LDHB 1

Lamin A/C LMNA 6

Lamimn 5, alpha 3 LAMA3 6

Lamimn 5, beta 3 LAMB3 6

Lamimn 5, gamma 2 LAMC2 6

Lamimn M LAMM 6

Lamimn receptor 1 LAMRI 6

Latent transforming growth factor-beta LTBP2 6 binding protein 2

LecitMn-cholesterol acyltransferase LCAT

Lectin, mannose-bMding 1 LMANI

Lectin, mannose-bindMg 2 MBL2

Leptin LEP 6

Leptin receptor LEPR 6

Leukocyte-specific transcript 1 LST-1 4

Leukotriene A4 synthase LTA4S 1

Leukotriene B4 receptor 4

Leukotriene B4 synthase LTB4S 1

Leukotriene C4 synthase LTC4S 1

LIM homeobox protein I LHXL 6

Lipocortin I ANX4 4

Lipoprotein lipase LPL 4

Lipoprotein receptor, Low Density LDLR 2

Lipoprotem, High Density HDLDTI 2

Lipoprotein, Very Low Density VLDLR 2

Lipoprotein-associated coagulation factor LACI 4

Lipoxygenase 1

Lipoxygenase 12 (platelets) LOG12 4

Long QT-type 2 potassium Channels LQT2, KCNH2 2

Low density lipoprotein receptor-related ^' LRP 2 protein precursor

Lymphoid enhancer-bMdmg factor LEF-1 6

Lysosomat acid lipase LIPA 1

Macrophage inflammatory protem-2 MIP2 4

MAD (mothers agaMst decapentaplegic, MADH4 6

DrosopMla) homologue 4

MADS box tianscription-enhancer factor 2A MEF2A 6 MADS box transcription-enhancer factor 2B MEF2B 6

Mannosidase, alpha B lysosomal MAΝB 1

Matiix Gla protem MGP 6

Matrix metalloproteinase I mmpl

Matrix metalloproteinase IO mmplo

Matrix metalloprotemase 1 1 mmpl 1

Matiix metalloproteinase 12 MMP12

Matiix metalloproteMase 13 MMP13

M trix metalloproteMase 4 MMP14

Matrix metalloprotemase 15 MMP15

Matiix metalloproteinase 16 MMP16

Matrix metalloproteinase 17 MMP17

Matiix metalloproteinase 18 MMP18

Matrix metalloproteinase 19 m P19

Matrix metalloproteMase 2 MMP2

Matrix metalloprotemase 3 MMP3, STMY1

Matrix metalloproteinase 4 MMP4

Matrix metalloproteinase 5 MMP5

Matrix metalloproteinase 6 MMP6

Matiix metalloproteinase 7 MMP7

Matrix metalloproteinase 8 MMP8

Matrix metalloprotemase 9 MMP9

Melanocort 'in 2 receptor MC2R

Melanocortin 4 receptor MC4R

MetMomne synthase MTR

MetMomne synthase reductase MTRR

Methylmalonyl-CoN mutase MUT

Mevalonate kinase MVK

MHC Class 1: N

MHC Class 1: B

MHC Class 1: C

MHC Class 1: LMP-2, LMP-7

MHC Class l: Tapl ABCR,TAP1

MHC Class II: DP HLA-DPBI

MHC Class 11: DQ

MHC Class 11: DR

MHC Class II: Tap2 TAP2,PSF2

MHC Class lkComplementation group A MHC2TA

MHC Class lhComplementation group B rfxank

MHC Class lkComplementation group C RFX5

MHC Class lhComplementation group D RFXAP

Microsomal tiiglyceride transfer proteM MTP 2

Mismatch repair gene, PMSL2 PMS2 6

Mitochondrial trifunctional protein, alpha HADHA 1 subumt

Mitochondrial trifunctional protein, beta HADHB subimit Molybdenum cofactor synthesis 1 moesi 1

Mo ybdenum cofactor synthesis 2 MOCS2 1

Monoamine oxidase A MAOA 1

Monoamine oxidase B MAOB 1

Monocyte chemoaftractant proteM 1 mcpl 4

Mucolipidoses GNPTA 1

Mulibrey namsm MUL 2

Muscarimc receptor, Ml CHRM1 5

Musca nie receptor, M2 CHRM2 5

Muscarimc receptor, M3 CHRM3 5

Muscarimc receptor, M4 CHRM4 5

Muscarimc receptor, M5 CHRM5 5

MutS homolog 3 MSH3 6

Myoglobin 2

Myosin, cardiac MYH7 3

Myosm, light chain 2 MYL2 3

Myosin, light chain 3 MYL3 3

Myosin-binding proteM C, cardiac MYBPC3 3

MyoMbularin MTM1 3

Na+, K+ ATPase, alpha ATPIAL 6

Na+, K+ ATPase, beta 1 ATPIBL 6

Na+, K+ ATPase, beta 2 ATPIB2 6

Na+, K+ ATPase, beta 3 ATP1B3 6

Na+/H+ exchanger 1 NHEL 2

Na+/H+ exchanger 2 NHE2 2

Na+/H+ exchanger 3 NHE3 2

Na+/H+ exchanger 4 NHE4 2

Na+/H+ exchanger 5 NHE5 2

N-acetylglucosamine-6-sulfatase GNS 1

NADPH oxidase 4 reductase

NB6

Nebulm NEB 3

NepMonophtMsis 1 NPHP1 2

Neuramimdase sialidase NEU 2

Neuregulin HGL 6

Neurite inMbitory protein 5

NeuroendocrMe convertase 1 NEC1, PCSK1 1

Neurokimn A NKNA 5

Neurokinin B NKNB 5

Neuropeptide Y NPY 5

Neuropeptide Y receptor Yi NPYIR 5

Neuropeptide Y receptor Y2 NPY2R 5

NeutiopMl cystolic factor 1 NCF1

NeutiopMl cystolic factor 2 NCF2

Niemann-Pick disease protein NPCL 2

Nitric oxide synthase 1, NOSl NOSl 1 Nitric oxide synthase 2, NOS2 NOS2 1

Nitric oxide synthase 3, NOS3 NOS3 1

Notch ligand -jagged 1 JAG 1. AG S 6

Nuclear factor 1-kappa-B-like gene IKBL 4

Oncogene sis PDGFB 6

Oncostatin M osm 6

Oncostatin M receptor OSMR 6

Osteonectin ON 6

Osteopontin OPN 6

Osteoprotegedn OPG 6

Pancreatic lipase PNLIP 1

Pancreatic lipase related proteM 1 PLRPI 1

Pancreatic lipase related protein 2 PLRP2 1

Paraoxonase PONI PONI 1

Paraoxonase PON2 PON2 1

Paraoxonase PON3 1

Parvalbumin PVALB 6

Patched (DrosopMla) homolog, PTCH PTCH 6

PCNA (proliferating cell nuclear antigen) 1

Pepsinogen 1

Peroxidase, salivary SAPX 1

Peroxisomal membrane protein 1 PXMPI 3

Peroxisomal membrane protein 3 PXMP3 2

Peroxisome biogenesis factor I PEXI 2

Peroxisome biogenesis factor 1 9 PEX19 2

Peroxisome biogenesis factor 6 PEX6 2

Peroxisome biogenesis factor 7 PEX7 2

Peroxisome proliferative activated receptor, PPARA 2 alpha

Peroxisome proliferative activated receptor, PPARG 2 gamma

Peroxisome receptor 1 PXRI 2

P-glycoprotein 3 PGY3 2

PhosphatidylMositol glycan, class A PIGA 6

(paroxysmal noctu nal hemoglobinuria)

Phosphatidylinositol transfer proteM PITPN 6

Phosphofructokinase, muscle PFKM 1

Phosphoglucose isomerase GPI 1

Phospholipase A2, group IO PLA2GIO 4

Phospholipase A2, group 1 B PLA2G 1 B 4

Phospholipase A2, group 2A PLA2G2A 4

Phospholipase A2, group 2B PLA2G2B 4

Phospholipase A2, group 4A PLA2G4A 4

Phospholipase A2, group 4C PLA2G4C 4

Phospholipase A2, group 5 PLA2G5 4

Phospholipase A2, group 6 PLA2G6 4

Phospholipase C alpha 4 Phospholipase C beta 4

Phospholipase C delta PLCD1 4

Phospholipase C epsilon 4

Phospholipase C gamma PLCG 4

Phosphomannomutase-2 PMM2 2

Phosphoribosyl pyrophosphate synthetase PRPS1

Phosphorylase kMase, alpha 2 PHKA2

Phytanoyi-CoA hydroxylase PHYH

Plasminogen PLG

Plasminogen activator inMbitor I PAH

Plasminogen activator MMbitor 2 PA 2

Plasminogen activator receptor, Urokmase UPAR; PLAUR

Plasminogen activator, Tissue PLAT;TPA

Plasminogen activator, UrokMase UPA;PLAU

Platelet derived growth factor PDGF 6

Platelet derived growth factor receptor PDGFR 6

Platelet glutaminase GLS 2

Platelet glycoprotein I b, alpha GPI BA

Platelet glycoprotein I b, beta GPIBB

Platelet glycoprotein I b, gamma GPLBG

Platelet glycoprotein IX GP9

Platelet glycoprotein V GP5

Platelet monamine oxidase 2

Platelet-activating factor acetylhydrolase 1 B PAFAHlBlor 4

LISI

Platelet-activating factor acetylhydrolase 2 PAFAH2 4

Platelet-activating factor receptor PAFR 4

Poly (ADP-ribose) synthetase PARS F

Polycystic kidney and hepatic disease 1 PKHDL 2

Polycystin I PKDL 2

Polycystin 2 PKD2 2

Potassium inwardly-rectifyMg channel Jl KCNJL 5

Potassium inwardly-rectifong Channel Jl 1 KCNJ11 5

Potassium voltage-gated channel AI KCNAL 5

Potassium voltage-gated channel El KCNEI 5

Potassium voltage-gated channel Ql KCNQl 5

Potassium voltage-gated channel Q2 KCNQ2 5

Potassium voltage-gated channel Q3 KCNQ3 5

POU domain, class 1, tianscription factor 1 POUIFI 6

(Piti)

Prekallikrein

Procollagen N-protease receptor)

Pro-melamn-concentiating hormone PMCH 6

Proopiomelanocortin POMC 5

Prostagiandin (PG) D synthase, PGDS 1 hematopoietic ProstagiandM E2 receptor

Prostaglandin-endoperoxidase synthase 2 PTGS2 6

Protease MMbitor 1 2

Protease nexm 2 PN2 1

Protective protein for beta-galactosidase PPGB 1

Protein C PROC

Protein C MMbitor PCI

Protein S PROS1

Prot ombin precursor F2

Protopo hyrinogen oxidase PPOX 1

Purine nucleoside phosphorylase NP 1

Purinergic receptor P1A1 5

Purinergic receptor PIA2 5

Purinergic receptor PIA3 5

Purinergic receptor P2X, 1 P2RX1 5

Purinergic receptor P2X, 2 P2RX2 5

Purinergic receptor P2X, 3 P2RX3 5

Purinergic receptor P2X, 4 P2RX4 5

Purinergic receptor P2X, 5 P2RX5 5

Purinergic receptor P2X, 6 P12RX6 5

Purinergic receptor P2X, 7 P2RX7 5

Purinergic receptor P2Y, 1 P2RYI 5

Purinergic receptor P2Y, 1 1 P2RY1 1 5

Purinergic receptor P2Y, 2 P2RY2 5

Pyruvate carboxylase PC 1

Pyruvate decarboxylase PDHA 1

Pyruvate kMase PKLR 1

Radixin RDX 3

Remn REN 1

Replication factor C RFC2 1

Retinoic acid receptor, alpha RARA 6

Retinoic acid receptor, beta RARB 6

Retinoic acid receptor, gamma RARG 6

Retinoid X receptor, alpha RXRA 6

Retinoid X receptor, beta RXRB 6

Retinoid X receptor, gamma RXRG 6

Rhesus blood group, CcEe antigens RHCE 2

Rhesus blood group, D antigen RHD 2

Rhesus blood group-associlated glycoproteM RHAG 2

Ribosomal protein S19 RPS19 1

RIGUI RIGUI 6

SIOO calcium-bmding protein AI SIOOAI 5

S 1 00 calcium-binding protein A2 S I 0OA2 5

SI OO calcium-bMding protem A3 S 1 0OA3 5

SIOO calcium-bindMg proteM A7 S 1 0OA7 5

SI OO calcium-bmdMg protem A8 S 1 0OA8 5

SIOO calcium-bMdmg protem B SIOOB 5 SIOO calcium-bMdmg protem P sloop 5

SA homolog SAH 6

SAP (SLAM-associated proteM) SH2D1A 4

Secretase, alpha 5

Secretase, beta 5

Secretase, gamma 5

Selectin E SELE 5

Selectin L SELL 5

Selectin P SELP 5

Serotomn receptor, 5HTIA HTRIA 5

SerotonM receptor, 5HT1B HTRI B 5

SerotonM receptor, 5HTIC HTRIC 5

Serotomn receptor, 5HT1 D HTRID 5

Serotomn receptor, 5HTI E HTRL E 5

SerotonM receptor, 5HT1 F HTRL F 5

Serotomn receptor, 5HT2A HTR2A 5

Serotomn receptor, 5HT2B HTR2B 5

Serotomn receptor, 5HT2C HTR2C 5

Serotomn receptor, 5HT3 HTR3 5

Serotomn receptor, 5HT4 HTR4 5

Serotomn receptor, 5HT5 HTR5 5

Serotomn receptor, 5HT6 HTR6 5

Serotomn receptor, 5HT7 HTR7 5

Serum amyloid A SAN 2

Serum amyloid P SAP 2

Sjoegren (Sjogren) syndrome antigen AI SSAl 4

Sodium channel, non-voltage gated 1, alpha SCΝΝLA 5

Sodium channel, non-voltage gated 1, beta SCΝΝ1 B 5

Sodium channel, non-voltage gated 1, SCΝΝLG 5 gamma

Sodium channel, voltage gated, type IV, SCΝ4A 5 alpha polypeptide

Sodium channel, voltage gated, type V, alpha SCN5A 5 polypeptide

Sodiumchannel,voltage-gated,typel,beta SCNLB 5 polypeptide

Solute carrier family 1 (glutamate SLCIAL 2 tiansporter), member 1

Solute carrier family 1 (glutamate SLC1A2 2 tiansporter), member 2

Solute carrier family 1 0 (sodium/bile acid SLC1OA1 2 cotransporter family),member 1

Solute carrier family IO (sodium/bile acid SLC1OA2 2 cotransporter family),member 2

Solute carrier family 12, member I SLC12A1 2

Solute carrier family 12, member 2 SLC12A2 2

So ute carrier family 12, member 3 SLC12A3 2 Solute carrier family 2 (facilitated glucose SLC2AI 2 transporter), member I

Solute carrier family 2 (facilitated glucose SLC2A2 2 transporter), member 2

Solute carrier family 2 (facilitated glucose SLC2A3 2 transporter), member 3

Solute carrier family 2 (facilitated glucose SLC2A4 2 tiansporter), member 4

Solute carrier family 2 (facilitated glucose SLC2A5 2 transporter), member 5

Solute carder family 21, member 2 SLC21A2 2

So ute carrier family 21, member 3 SLC21A3 2

Solute carrier family 22, member 5 SLC22A5 2

Solute carrier family 3 (facilitated glucose SLC3AI 2 transporter), member I

Solute carrier family 4 (amon exchanger), SLC4AI 2 member 1

Solute carrier family 4 (amon exchanger), SLC4A2 2 member 2

Solute carrier family 4 (amon exchanger), SLC4A3 2 member 3

Solute carrier family 5 (sodium/glucose SLC5A1 2 transporter), member I

Solute carrier family 5 (sodium/glucose SLC5A2 2 tiansporter), member 2

Solute carrier family 5 (sodium/glucose SLC5A5 2 transporter), member 5

Solute carrier family 5, member 3 SLC5A3 2

Solute carrier family 6 (GAMMA- SLC6A1 2

AMINOBUTYRIC ACID transporter), member

1

Solute carrier family 6 (neurotiansmifter SLC6A3 tiansporter, dopamine), member 3

Solute carrier family 6 (neurotiansmifter SLC6A2 tiansporter, noradrenaline), member 2

Solute carrier family 6 (neurotiansmifter SLC6A4 tiansporter, serotomn), member 4

Solute carrier family 8 (sodium/calcium SLC8A1 exchanger), member 1

Somc hedgehog, SHH SHH 6

So@cin SRI 2

Spectrin alpha SPTAI ^• 3

Spectrin beta SPTB 3

SpMngomyelinase SMPDl 1

Stern cell factor SCF 6

Steroid 5 alpha reductase 1 SRD5A1 1

Steroid 5 alpha reductase 2 SRD5A2 1 Steroidogemc acute regulatory protem STAR 2

Sterol carrier protein 2 SCP2 2

Succmate dehydrogenase I SDHL

Succmate dehydrogenase 2 SDH2

Succinate t oldnase

Superoxide dismutase 1 SODI

Superoxide dismutase 3 SOD3

Surfeit I SURF1 6

Synapsin I a& b SYNI 5

SynapsM 2a & 2b SYN2 5

Synaptic vesicle amine tiansporter 8VAT 5

Synaptobrevin 1 SYBI 5

Synaptobrevin 2 SYB2 5

Synaptogyrin 5

Synaptophysm SYP 5

Synaptosomal-associated protein, 25KD SNAP25 5

Synaptotagmin I SyTi 5

Synaptotagmin 2 SYT2 5

Syntaxin I STxl 5

Talin TLN 6

T-BOX 1 TBXL 6

T-BOX 3 TBX3 6

TEK, tyrosine kinase, endothelial TEK 1

Terminal deoxynucleotidyltransferase TDT 4

Tetianectin TNA 2

TMolase, perioxisomal 1

TMopurme S-methyltransferase TPMT 1

TMombin receptor F2R

TMombomodulin THBD

TMombopoietin THPO 6

TMombospondin THBSI 6

TMomboxane A synthase 1 TBXASI

TMomboxane A2 TXA2

TMomboxane A2 receptor TBXA2R

Thy-I T-cell antigen THYI

Thymic humoral factor

ThymopoietM TMPO 6

Thymosin 4

Thyroid hormone receptor, alpha THRA 6

Thyroid hormone receptor, beta THRB 6

TIE receptor tyrosine kinase TIE-1 6

Tip-associated protein TAP 4

Tissue inMbitor of metalloproteinase 1, TIMP1 1

TiMPl

Tissue inMbitor of metalloprotemase 2, TIMP2 1

TIMP2

Tissue inMbitor of metalloproteMase 3, TIMP3 1 TIMP3

Tissue inMbitor of metalloprotemase 4, TTMP4

TTMP4

Topoisomerase I 1

Torticolhs, keloids, cryptorcMdism and renal TKCR 6 dysplasia gene

Transcobalamin 2, TCN2 TCN2 2

Transcription factor 2, hepatic TCF2 6

Transferrin TF 6

Transferdn receptor TFRC 6

Transforming growth factor, beta 2 TGFB2 6

Transforming growth factor, beta induced TGFBI 6

TransformMg growth factor, beta receptor 2 TGFBR2 6

Transtocation in renal carcMoma on TRC8 6 cMomosome 8 gene

Transthyretin TTR 2

Triosephosphate isomerase TP11 1

Tropomyosin 1 alpha TPM1 3

Tropomn C 3

Tropomn I TNN13 3

Tropomn T2, cardiac TNNT2 3

Tuberous sclerosis 1 TSC1 6

Tuberous sclerosis 2 TSC2 6

Tumour necrosis factor (TNF) receptor TRAFI associated. factor 1

Tumour necrosis factor (TNF) receptor TRAF2. associated factor 2

Tumour necrosis factor (TNF) receptor TRAF3 associated factor 3

Tumour necrosis factor (TNF) receptor TRAF4 associated factor 4

Tumour necrosis factor (TNF) receptor TRAF5 associated factor 5

Tumour necrosis factor (TNF) receptor TRAF6 associated factor 6

Tumour necrosis factor alpha TNFA

Tumour necrosis factor alpha receptor TNFAR

Tumour necrosis factor beta TNFB

Tumour necrosis factor beta receptor TNFBR

Tumour protein p53 TP53.P53 6

Tumour protein p63 TP63 6

Tyrosine hydroxylase TH 1

Ubiquitin 6

Ubiquitin B UBB 6

Ubiqmtin C UBC 6

UDP-glucose pyrophosphorylase 1

UDP-glucuronosyltiansferase 1 ugtld, UGTI 1 UDP-glucuronosyltiansferase 2 UGT2 1

UncouplMg protein I 2

UncouplMg protem 3 UCP3 2

Undulin I COL14A1 3

Uridinediphosphate(UDP)-galactose-4- GALE 1 epimerase

Uroporphyrinogen III synthase UROS 1

Vacuolar proton pump, subumt 1 VPPI 5

Vacuolar proton pump, subumt 3 VPP3 5

Vascular endothelial growth factor VEGF 6

Vasoactive mtestmal polypeptide VIP 5

Vasoactive intestinal polypeptide receptor VIPR 5

VasoinMbitory peptide 6

Vimentin vim 4

Vinculin 3

Vitamm D receptor VDR 6

Von Hippel-Lindau gene VHL 6

Von Willebrand factor VWF 2

Werner syndrome helicase WRN 6

Wiskoft-Aldrich syndrome proteM WASP, THC 4

Wolf-HirscMiorn syndrome candidate 1 gene WHSCl 6

Wolfram syndrome I gene WFSl 3

XantMne dehydrogenase XDH 1

Zinc finger protem 3 ZIC3 3

dass die mit FeMfunktion, Schädigung oder Erlαankung des Gastrointestinaltrakts in Zusammenhang stehenden Gene ausgewäMt sind aus:

Liste der Gene HUGO Protein¬

Gensymbol funktion

1 lbeta hydroxysteroid dehydrogenase 2 HSD11B2 17beta hydroxysteroid dehydrogenase 1 HSD17B1 17beta hydroxysteroid dehydrogenase 3 HSD17B3 17beta hydroxysteroid dehydrogenase 4 HSD17B4 17beta hydroxysteroid oxidoreductase 2,3-Bisphosphoglycerate mutase BPGM 3 beta Hydroxysteroid dehydrogenase 2 HSD3B2 6-Phosphofructo-2-kinase PFKFB1 Acetoacetyl 1-CoA-tMolase ACATl Acetoacetyl 2-CoA-tMolase ACAT2 Acetyl CoA carboxylase ACC Acetyl CoA carboxylase alpha ACACA Acetylcholine receptor, nicotimc, gamma CHRNG 5 AcetylcholMesterase ACHE 1

Acid phosphatase 2, lysosomal ACP2 1

Actin, alpha, cardiac ACTC 3

Actin, alpha, skeletal ACTAL 3

Actin, alpha, smooth, aortic ACTA2 3

Actin, beta ACTB 3

Actin, gamma 2 ACTG2 3

Acyl CoA dehydrogenase, long cham ACADL

Acyl CoA dehydrogenase, medium cham ACADM

Acyl CoA dehydrogenase, short chain ACADS

Acyl CoA dehydrogenase, very long chain ACADVL

Acyl CoA synthetase, long chain, 1 LACS1

Acyl CoA synthetase, long chaM, 2 LACS2

Acyl CoA synthetase, long chain, 4 ACS4

Acyl malonyl condensing enzyme

Acyl-CoA tMoesterase

Adaptin, beta 3A ADTB3A 2

Ademne phosphoribosyltransferase APRT 2

Adenomatous polyposis coli tiimour supressor APC 6 gene

Adenosine receptor AI ADORA1 5

Adenosme receptor A2A ADORA2A 5

Adenosine receptor A2B ADORA2B 5

Adenosine receptor A3 ADORA3 5

Adenylate cyclase 1 ADCY1

Adenylate cyclase 2 ADCY2

Adenylate cyclase 3 ADCY3

Adenylate cyclase 4 ADCY4

Adenylate cyclase 5 ADCY5

Adenylate cyclase 6 ADCY6

Adenylate cyclase 7 ADCY7

Adenylate cyclase 8 ADCY8

Adenylate cyclase 9 ADCY9

Adrenergic receptor, alphal ADRA1 5

Adrenergic receptor, alpha2 ADRA2 5

Adrenergic receptor, betal ADRB1 5

Adrenergic receptor, beta2 ADRB2 5

Adrenergic receptor, beta3 ADRB3 5

AdrenocorticotropMc hormone (ACTH) ACTHR 6 receptor

AlanMe ammotiansferase 2

Alamne-glyoxylate amMotransferase AGXT 1

AlbumM, ALB ALB 2

Alcohol dehydrogenase 1 ADH1 1

Alcohol dehydrogenase 2 ADH2 1

Alcohol dehydrogenase 3 ADH3 1

Alcohol dehydrogenase 4 ADH4 1 Alcohol dehydrogenase 5 ADH5

Alcohol dehydrogenase 6 ADH6

Alcohol dehydrogenase 7 ADH7

Aldehyde dehydrogenase 1 ALDH1

Aldehyde dehydrogenase 2 ALDH2

Aldehyde dehydrogenase 5 ALDH5

Aldehyde dehydrogenase 6 ALDH6

Aldehyde dehydrogenase 7 ALDH7

Aldolase A ALDOA

Aldolase B ALDOB

Aldolase C ALDOC

Aldose reductase 2

Aldosterone receptor MLR 6

Alkaline phosphatase, liver/bone/kidney ALPL 2

Alpha 2 macroglobulM A2M 4 alphal -Antitrypsin Pl 1 alpha2-Antiplasmin PLI 1 alpha- Actimn 2 ACTN2 6 alpha- Actimn 3 ACTN3 6 alpha-Amylase 1 alpha-Dextiinase 1 alpha-Galactosidase A GLA 1 alpha-Ketoglutarate dehydrogenase 1 alpha-L-Iduromdase IDUA 1

Aminomethyltiansferase . AMT 1

Ammopeptidase P XPNPEP2 1

AmpMregulin AREG 6

Amylo- 1 ,6-glucosidase AGL 1

Angiopoietin 1 ANGPT1 6

Angiopoietin 2 ANGPT2 6

Angiotensin converting enzyme ACE, DCPI 1

AngiotensM receptor 1 AGTR1 2

Angiotensin receptor 2 AGTR2 2

Angiotensinogen AGT 1

Antidiuretic hormone receptor ADHR 2

Antitiirombin III AT3 1

AP-2, alpha TFAP2A 6

AP-2, beta TFAP2B 6

AP-2, gamma TFAP2C 6

Apolipoprotein A I APOA1 2

Apolipoprotein A II APOA2 2

Apolipoprotem B APOB 2

Apolipoprotein Cl APOC1 2

Apolipoprotem C2 APOC2 2

Apolipoprotem C3 APOC3 2

Apolipoprotein D APOD 2

ApolipoproteM E APOE 2 ApolipoproteM H APOH 2

Aquaporin 1 AQP1 2

Aquaporin 2 AQP2 2

Argimne vasopressM AVP 5

Argimne vasopressin receptor 1 A AVPR1A 5

Arg mne vasopressM receptor IB AVPR1B 5

Argmine vasopressin receptor 2 AVPR2 5

Arginosuccinate lyase ASL

Arginosuccmate synthetase ASS

Aryi hydrocarbon receptor nuclear tianslocator ARNT

Arylsulfatase A ARSA

Arylsulfatase B ARSB

Aspartate transaminase

Aspartylglucosamimdase AGA

Ataxia telangiectasia gene, AT ATM

ATP/ADP translocase

Atiial natriuretic peptide ANP 6

Atiial natriuretic peptide receptor A NPR1 6

Atiial natiiuretic peptide receptor B NPR2 6

Atriai natriuretic peptide receptor C NPR3 6

Autoimmune regulator, AIRE AIRE 4

Azoospermia factor 1 AZF1 6 beta 2 Microglobulin B2M 4 beta-Galactosidase GLB1 1 beta-Glucosidase, neutral 1 beta-Glucuromdase GUSB 1 beta-Ketoacyl reductase 1

Bile acid coenzyme A: am o acid N- BAAT 1

Acyltiansferase

Bile salt export pump BSEP, PFIC2 2

Bile salt-stimulated lipase CEL 1

Bilirubin UDP-glucuronosyltransferase 1

Biliverdm reductase 2

Bradykmm receptor Bl 4

Bradykimn receptor B2 4

Branched chain keto acid dehydrogenase El, BCKDHA 1 alpha polypeptide

Branched chain keto acid dehydrogenase El, BCKDHB beta polypeptide

Brush border guanylyl cyclase 1

Ca(2+) tiansportMg ATPase, fast twitch ATP2A1 2

Ca(2+) transportmg ATPase, slow twitch ATP2A2 2

Cadherin E CDH1 6

Cadherin EP 6

Cadhee N CDH2 6

Cadherin P CDH3 6

Calcitonin/Calcitomn gene-related peptide CALCA 5 alpha

Calcium channel, voltage-dependent, Alpha IF CACNA IF 5 subumt

Calcium channel, voltage-dependent, Alpha- CACNA IB 5

1 B (CACNL1A5)

Calcium channel, voltage-dependent, Alpha- CACNA IC 5

1 C

Calcium channel, voltage-dependent, Alpha- CACNA ID 5

1 D

Calcium channel, voltage-dependent, Alpha- CACNA 1E 5

I E (CACNL1 A6)

Calcium channel, voltage-dependent, Alpha- CACNA2 5

2/delta

Calcium channel, voltage-dependent, Beta I CACNB1 5

Calcium channel, voltage-dependent, Beta 3 CACNB3 5

Calcium channel, voltage-dependent, CACNG2 5

Neuronal, Gamma

Calcium channel, voltage-dependent, T-type 5

Calcium sensing receptor CASR 2

Calmodulin 1 CALM1 6

Calmodulin 2 CALM2 6

Calmodulin 3 CALM3 6

Cahnodulin dependent kinase 2

Calmodiüin-dependant protein kinase II CAMK2A 6

CalnexM CANX 6

Canalicular multispecific orgamc amon CMOAT 2 tiansporter

Carbamoylphosphate synthetase 1 CPS1

Carbamoylphosphate synthetase 2 CPS2

Carbomc anhydrase 3 CA3

Carbomc anhydrase 4 CA4

Carbomc anhydrase, alpha CA1

Carbomc anhydrase, beta CA2

Carboxylesterase 1 CES1

Carboxypeptidase CPN

Camitine acylcamitine translocase CACT

Camitine palmitoyltransferase I CPT1A

Camitine palmitoyltransferase II CPT2

Carmtine tiansporter protem CDSP, SCD 2

Cartilage-hair hypoplasia gene CHH 5

Catalase CAT 4

Cathepsin B

Cathepsm D

Cathepsin E

CathepsM G CTSG

Cathepsin H

Cathepsin K CTSK Cathepsm L 1

CathepsM S 1

CD1 CD1 4

CD4 CD4 4

Cell adhesion molecule, intercellular, ICAM ICAM1 6

Cell adhesion molecule, leukocyte-endothelial, LECAMl 6

LECAM (CD62)

Cell adhesion molecule, liver, LCAM LCAM 6

Cell adhesion molecule, neural, NCAMl NCAMl 6

Cell adhesion molecule, neural, NCAM2 NCAM2 6

Cell adhesion molecule, platelet-endothelial, PECAMl 6

PECAM

Cell adhesion molecule, vascular, VCAM VCAMl 6 c-erbB2 FRBB2 6 c-erbB3 ERBB3 6 c-erbB4 ERBB4 6

Ceraloplasmm precursor CP 1

Chemokine receptor CCR2 CCR2 4

ChemokMe receptor CCR3 CCR3 4

Chemokine receptor CCR5 CCR5 4

Chemokine receptor CXCR4 CXCR4 4

CMtotriosidase CHIT 1

CMoride channel 5 CLCN5 3

CMoride channel KB CLCNKB 3

Cholecystokimn CCK 5

Cholecystokimn B receptor CCKBR 5

Cholestasis, progressive familial mtrahepatic 1 FIC1 6 gene

Cholesterol ester hydroxylase 1

CholMe acetyltiansferase CHAT 1

CMomogramn A CHGA 6

Chymotrypsinogen 1

Citiate synthase 1

Clathrin 2

Clusterin CLU 6

CoA tiansferase 1

Cockayne syndrome gene, CKNI CKNI 6

Collagen I alpha 1 COL1A1 3

Collagen I alpha 2 COL1A2 3

Collagen II alpha 1 COL2A1 3

Collagen III alpha 1 COL3A1 3

Collagen IV alpha 1 COL4A1 3

Collagen IV alpha 2 COL4A2 3

Collagen IV alpha 3 COL4A3 3

Collagen IV alpha 4 COL4A4 3

Collagen TV alpha 5 COL4A5 3

Collagen IV alpha 6 COL4A6 3 Collagen IX alpha 2 COL9A2, EDM2 3

Collagen IX alpha 3 COL9A3 3

Collagen receptor COLR 3

Collagen V alpha 1 COL5A1 3

Collagen V alpha 2 COL5A2 3

Collagen VI alpha 1 COL6A1 3

Collagen VI alpha 2 COL6A2 3

Collagen VI alpha 3 COL6A3 3

Collagen VII alpha 1 COL7A1 3

Collagen X alpha 1 COL10A1 3

Collagen X alpha 1 COLI 1 AI 3

Collagen XI alpha 2 COL11A2 3

Collagen XVII alpha l COL17A1 3

Colony-stimulating factor 1 CSF1 6

Complement component Cl inMbitor C1 NH 4

Complex I 1

Comp ex II 1

Complex III 1

CorticotropMn-releasing hormone CRH 2

CorticotropMn-releasing hormone receptor CRHR1 2

C-reactive protem CRP 4

Creb bmdmg protein CREBBP 6

Cu2+ transportmg ATPase beta polypeptide ATP7B 1

Cubilin CUBN 2

Cyclic AMP-dependent protein Idnase PKA

Cyclic nucleotide phosphodiesterase 1 B PDE1B

Cyclic nuc eotide phosphodiesterase 2A3 PDE2A3

Cyclic nucleotide phosphodiesterase 3A PDE3A

Cyclic nucleotide phosphodiesterase 3B PDE3B

Cyclic nucleotide phosphodiesterase 4A PDE4A

Cyclic nucleotide phosphodiesterase 4C PDE4C

Cyclic nucleotide phosphodiesterase 5A PDE5A

Cyclic nucleotide phosphodiesterase 6A PDE6A

Cyclic nucleotide phosphodiesterase 6B PDE6B

Cyclic nucleotide phosphodiesterase 7 PDE7

Cyclic nucleotide phosphodiesterase 8 PDE8

Cyclic nucleotide phosphodiesterase 9A PDE9A

Cyclin F CCNF 6

Cyclin-dependent Idnase 2 CDK2 6

Cyclin-dependent kMase inMbitor IC (P57, CDKN 1C 6

KIP2)

Cyclooxygenase 1 COX1

Cyclooxygenase 2 COX2

CYP11A1 CYP11A1

CYP11B1 CYP11B1

CYP11B2 CYP11B2

CYP17 CYP17 CYP19 CYP19

CYPIAI CYPIAI

CYP1A2 CYP1A2

CYP1B1 CYP1B1

CYP21 CYP21

CYP24 CYP24

CYP27 CYP27

CYP27B1 PDDR

CYP2A1 CYP2A1

CYP2A13 CYP2A13

CYP2A3 CYP2A3

CYP2A6V2 CYP2A6V2

CYP2A7 CYP2A7

CYP2B6 CYP2B6

CYP2C18 CYP2C18

CYP2C19 CYP2C19

CYP2C8 CYP2C8

CYP2C9 CYP2C9

CYP2D6 CYP2D6

CYP2E1 CYP2E1

CYP2FI CYP2FI

CYP2J2 CYP2J2

CYP3A3 CYP3A3

CYP3A4 CYP3A4

CYP3A5 CYP3A5

CYP3A7 CYP3A7

CYP4A11 CYP4A11

CYP4B1 CYP4B1

CYP4F2 CYP4F2

CYP4F3 CYP4F3

CYP51 CYP51

CYP5AI CYP5A1

CYP7A CYP7A

CYP8 CYP8

CystatMonase CTH

CystatMone beta synthase CBS

Cysteine-rich Mtestinal protem 2

Cystic fibrosis transmembrane conductance CFTR 5 regulator, CFTR

Cystinosin CTNS 2

Cytidine deamMase CDA

Cytidine-5 -prime-triphosphate synthetase CTPS

CytocMome a

CytocMome c

CytocMome c oxidase, MTCO

Cytokine-suppressive antiinflammatory drug- CSBPl 4 bMding protein 1 Cytokine-suppressive antiinflammatory drug- CSBP2 4 bindmg protem 2

DAXl nuclear receptor DAXl 4

Deleted in colorectal carcinoma DCC 6

Delta aminolevulMate dehydratase ALAD 1

Delta(4)-3 -oxosteroid 5-beta-reductase 1

Delta-7-dehydrocholesterol reductase DHCR7 1

Dihydrodiol dehydrogenase 1 DDHI 1

Dihydrolipoamide branched chain tiansacylase DBT 5

Dihydrolipoamide dehydrogenase DLD 5

DNA glycosylases 1

Dopamme beta hydroxylase DBH 1

Dopamine receptors Dl DRD1 5

Dopamine receptors D2 DRD2 5

Dopamine receptors D3 DRD3 5

Dopamine receptors D4 DRD4 5

Dopamine receptors D5 DRD5 5

Dynamin DNMI 6

Dynein 6

DystropMa myotomca DM, DMPK 1

DystropMa myotomca, atypical DM2 1

DystrophM DMD 3

EBI 6

Elastase I ELASI 1

Elastase 2 ELAS2 1

Election-tiansfering-flavoprotem alpha ETFA 2

Election-tiansferMg-flavoprotem beta ETFB 2

Election-tiansferring flavoproteM ETFDH 1 dehydrogenase

Endothelin I EDN1 5

Endothelin 2 EDN2 5

Endothelin 3 EDN3 5

EndothelM converting enzyme ECE1 5

Endothelin receptor type A EDNRA 5

Endothelin receptor type B EDNRB 5

Enolase ENO1 1

Enoyl CoA isomerase 1

Enoyl CoA reductase 1

Enteric lipase 2

Enterokinase PRSS7, ENTK 1

Ephrin receptor tyrosMe kinase A EPHA 6

Ephrin receptor tyrosMe kMase B EPHB 6

Epidermal growth factor EGF 6

Epidermal growth factor receptor EGFR 6

ErytMocyte membrane proteM band 4.1 EPB41 3

ErytMopoietin EPO 4

Excision repair complementation group 2 ERCC2 1 proteM

Excision repair complementation group 2 ERCC3 protein

Eyes absent 1 EYAI 6

Faciogemtal dysplasia FGD1, FGDY 2

Factor 1 (No. one) FI 4

Factor B, properdin 4

Factor D 4

Factor H HF1 4

Factor I (letter 1) IF 4

Factor III F3 4

Factor IX F9 4

Factor V F5 4

Factor VII F7 4

Factor VIII F8 4

Factor X F10 4

Factor XI Fll 4

Factor XII F12 4

Factor XIII A & B F13A & F13B 4

FADH dehydrogenase 1

Fancom anemia, complementation group A FANCA 2

Fancom anemia, complementation group C FANCC 2

Fancom anemia, complementation group D FANCD 2

Fatty acid bmding proteins FABP1 2

Fatty acid binding proteins FABP2 FABP2 2

Fatty acid binding proteins FABP3 2

Fatty acid binding proteins FABP4 2

Fatty acid bmding proteins FABP5 2

Fatty acid binding proteins FABP6 2

Ferritin, H subimit 2

Ferritin, L subumt FTL 2

Fibroblast growth factor FGF1 6

Fibroblast growth factor receptor 1 FGFR1 6

Fibroblast growth factor receptor 2 FGFR2 6

Fibroblast growth factor receptor 3 FGFR3 6

Fibronectin precursor FN1 6

FlavM-contaming monooxygenase 1 FMOL 1

Flavm-contaMMg monooxygenase 2 FMO2 1

Flavin-contaimng monooxygenase 3 FMO3 1

Flavin-contaimng monooxygenase 4 FMO4 1

Folic acid receptor FOLR 6

Follicle stimulating hormone receptor FSHR,ODGl 6

Follicle stimulating hormone, FSH FSHB 6

Forkhead transcription factor 10 FKHL10 6

Forkhead transcription factor 14 FKHL14 6

Fragile site, folic acid type, rare, fra(X) A FRAXA 5

Fructose- 1 ,6-diphosphatase FBP1 1 Fucosidase alpha-L-1 FUCA1 1

Fucosidase alpha-L-2 1

Fucosyltransferase 2 FUT2 2

Fucosyltransferase 3 FUT3 2

Fumarase FH 1

G/T mismatch bmding protein GTBP,MSH6 6

Galactocerebrosidase GALC 1

Galactose 1 -phosphate uridyl-transferase GALT 1

Galactosyltransferase 1 GT1 6

Galactosyltransferase, alpha 1,3 GGTA1 6

Galactosyltransferase, beta 3 B3GALT 6

Galamn GAL 5

Galamn receptor GALNRL 5

Gamma-glutamyltransferase 1 GGT1 2

Gamma-glutamyltransferase 2 GGT2 2

Gap junction protein beta I GJB1 2

Gastric inMbitory polypeptide GIP GIP 2

Gastric inMbitory polypeptide receptor, GIPR GIPR 2

Gastric Intrinsic factor, GIF GIF 1

Gastiic lipase, LIPF 2

Gastrin GAS 6

Gastrin releasing peptide GRP 2

Gastrin releasing peptide receptor GRPR 2

Glial-cell derived neurotropMc factor (GDNF) 5 receptor

Glial-cell derived neurotropMc factor, GDNF GDNF 5

Glucagon receptor GCGR 6

Glucagon synthase 2

Glucagon-like peptide receptor 1 GLP1R 6

Glucokinase GCK

Glucose-6-phosphatase G6PC

Glucose-6-phosphatase tianslocase G6PT1

Glucose-6-phosphate dehydrogenase G6PD

Glucosidase, acid alpha GAA

Glutamate dehydrogenase GLUD1

Glutamine synthase

Glutamine transporter

GlutatMone GSH

GlutatMone peroxidase, GPX2 GPX2

GlutatMone S-transferase, GSTZI GSTZI

Glyceraldehyde-3 -phosphate dehydrogenase, GAPDH

GAPDH

Glycerol kinase GK

GlycMamide ribonucleotide (GAR) GART tiansformylase

GlycMe dehydrogenase GLDC

Glycogen brancMng enzyme GBEI Glycogen phosphorylase PYGL 1

Glycogen synthase 1 (muscle) GLYS1 1

Glycogen synthase 2 (liver) GYS2 1

Glycosyltiansferases, ABO blood group ABO 1

Gonadotropin releasMg hormone GNRH 6

Goosecoid GSC 6

Growth arrest-specific homeobox GAX 6

Growth hormone receptor GHR 6

Guanylin GUCA2 2

H(+), K(+) - ATPase ATP4B 5

Haem oxygenase 2

Haemoglobin alpha 1 HBA1 2

Haemoglobm alpha 2 HBA2 2

Haemoglobm beta HBB 2

Haemoglobin delta HBD 2

Haemoglobin gamma A HBG1 2

H emoglobm gamma B HBG2 2

Haemoglobm gamma G HBGG 2

Heat shock protein, HSP60 4

Heat shock protein, HSP70 4

Heat shock protein, HSP90 4

Heat shock protein, HSPA1 4

Heat shock protein, HSPA2 4

Heparan sulfamidase 1

Heparin bmding epidermal growth factor HBEGF 6

Heparin Cofactor 11 HCF2 4

Hepatic nuclear factor-3-beta HNF3B 1

Hepatic nuclear factor-4-alpha HNF4A 1

Hepatitis B virus mtegration site 1 HVBS1

Hepatitis B virus mtegration site 2 HVBS6

Hepatocyte growth factor HGF 6

Hermansky-pudlak syndrome gene HPS 2

Hexokinase 1 HKI 1

Hexokinase 2 HK2 1

Hexosamimdase A HEXA,TSD 1

Hexosammidase B HEXB 1

Histamine receptors, Hl 5

Histamine receptors, H2 5

Histamine receptors, H3 5

Histatin 1 4

Histatin 2 4

Histatin 3 HTN3 4

HLA-B associated transcript I BAT1 4

HMG-CoA lyase HMGCL 1

HMG-CoA reductase HMGCR 1

HMG-CoA synthase HMGCS2 1

Holocarboxylase synthetase HLCS 1 Hormone-sensitive lipase HSL 1

Hydroxyacyl glutatiiione hydrolase HAGH 1

HypoxantMne-guamne HPRT 1 phosphoribosyltransferase, HGPRT

IC7 A and B 4

Iduronate 2 sulphatase IDS 1

Immunoglobulin E (IgE) reponsiveness gene IGER 4 lmmunoglobulM E (IgE) serum concentration IGES 4 regulator gene

Immunoglobulm gamma (IgG) 2 IGHG2 4

Immunoglobulin heavy mu cham IGHM 4

Immunoglobulin J polypeptide IGJ 4

Immunoglobulin kappa constant region IGKC 4

Immunoglobulm kappa variable region IGKV 4

InMbin, alpha INHA 6

InMbin, beta A INHBA 6

InMbin, beta B INHBB 6

InMbm, beta C INHBC 6

Inositol 1,4,5-triphosphate receptor 3 ITPR3 6

Insulin INS 6

Insulin receptor INSR 6

Insulin-like growth factor 1 IGF1 6

Insulin-like growth factor 1 receptor IGFIR 6

Insulin-like growth factor 2 IGF2 6

InsulM-like growth factor 2 receptor IGF2R 6

Integrin beta 1 ITGBL 6

Integrin beta 2 ITGB2 6 ntegrin beta 3 ITGB3 6

Mtegrin beta 6 ITGB6 6

Mtegrin, alpha M ITGAM 6

Integrin, alpha X ITGAX 6

Inter-alpha-tiypsin inMbitor, IATI 1

Interferon alpha IFNA1 4

Interferon beta IFNB 4

Interferon gamma IFNG 4

Interferon gamma receptor 1 IFNGR1 4

Interferon gamma receptor 2 IFNGR2 4

Interferon regulatory factor 1 IRF1 4

Mterferon regulatory factor 4 IRF4 4

MterieukinQL) 1 receptor IL1R 4

InterleukMQL) 1, alpha IL1A 4

MterieukMQL) 1, beta IL1B 4

Mterleukin(IL) 10 IL10 4

Mterleuldn(IL) 10 receptor IL10R 4

MterieukMQL) 11 IL11 1

MterleukinQL) 11 receptor IL11R 4

InterleukM(IL) 12 IL12 4 MterieukMQL) 12 receptor, beta 1 IL12RBI 4

MterieukMQL) 13 IL13 4

MterleukinQL) 13 receptor IL13R 4

InterleukMQL) 2 IL2 4

MterleukinQL) 2 receptor, alpha IL2RA 4

MterleukinQL) 2 receptor, gamma IL2RG 4

InterleukMQL) 3 IL3 4

MterleukinQL) 3 receptor IL3R 4

MterleukinQL) 4 IL4 4

MterleukinQL) 4 receptor IL4R 4

InterleukMQL) 5 IL5 4

MterleukinQL) 5 receptor IL5R 4

MterleukinQL) 6 IL6 4

MterleukinQL) 6 receptor IL6R 4

InterleukMQL) 7 IL7 4

MterleukinQL) 7 receptor IL7R 4

MterleukM(IL) 8 IL8 4

MterleukinQL) 8 receptor IL8R 4

MterleukinQL) 9 IL9 4

MterleukinQL) 9 receptor IL9R 4

InterleukMQL) receptor antagomst 1 IL1RN, IL1RA 4

Intestinal alkaline phosphatase IAP 2

Islet amyloid polypeptide IAPP 5

Isocitrate dehydrogenase 1

Isovaleric acid CoA dehydrogenase IVD 1

Kallikrein 3 KAK3 4

Kaliman syndrome gene 1 KALI 6

Ketohexokinase KHK 1 ketolase 1

Kimnogen, High molecular weight KNG 4

Kynuremne hydroxylase 1

Kynuremnease 1

Lactase 1

Lamimn 5, alpha 3 LAMA3 6

Lamimn 5, beta 3 LAMB3 6

Lamimn 5, gamma 2 LAMC2 6

Lamimn M LAMM 6

Lamimn receptor 1 LAMR1 6

Latent transforming growth factor-beta binding LTBP2 6 protein 2

LecitMn-cholesterol acyltiansferase LCAT 1

Leptin LEP 6

Leptin receptor LEPR 6

Leukocyte-specific tianscript 1 LST-1 4

Leukotriene A4 hydrolase 4

Leukotriene A4 synthase LTA4S 1

Leukotriene B4 receptor 4 Leukotriene B4 synthase LTB4S 1

Leukotriene C4 receptor 4

Leukotriene C4 synthase LTC4S 1

Leukotriene D4/E4 receptor 4

LIM homeobox proteM 1 LHX1 6

LIM homeobox tianscription factor 1, beta LMX1B 6

Lipoamide dehydrogenase OGDH 1

LipoproteM lipase LPL 4

Lipoprotein receptor, Low Density LDLR 2

LipoproteM, High Density HDLDT1 2

Lipoprotein, Intermediate Density 2

Lipoprotein, Low Density 1 2

LipoproteM, Low Density 2 2

Lipoprotein, Very Low Density VLDLR 2

Low density lipoprotem receptor-related proteM LRP 2 precursor

Lymphoid enhancer-binding factor LEF-1 6

Lysosomal acid lipase LIPA 1

Lysozyme LYZ 4

MAD (mothers against decapentaplegic, MADH4 6

DrosopMla) homologue 4

MADS box transcription-enhancer factor 2A MEF2A 6

MADS box transcription-enhancer factor 2B MEF2B 6

MADS box transcription-enhancer factor 2C MEF2C 6

MADS box transcription-enhancer factor 2D MEF2D 6

Malonyl CoA decarboxylase 1

Malonyl CoA transferase 1

Maltase-glucoamylase 1

Mannosidase, alpha B lysosomal MANB 1

Marenostrin MEFV 2

MAX-Mteracting protein 1 mxi l 6

MEK kinase, MEKK 1

Melanocortin 2 receptor MC2R 2

Melanocortin 4 receptor MC4R 2

Memn MEN1 6

MetallotMonein 2

Mevalonate kMase MVK 1

MHC Class 1: A 4

MHC Class 1: B 4

MHC Class 1: C 4

MHC Class 1: LMP-2, LMP-7 4

MHC Class l: Tapl ABCR,TAP1 4

MHC Class II: DP HLA-DPB1 4

MHC Class II: DO 4

MHC Class II: DR 4

MHC Class II: Tap2 TAP2, PSF2 4

MHC Class II: Complementation group A MHC2TA 4 MHC Class II: Complementation group B RFXANK 4

MHC Class II: Complementation group C RFX5 4

MHC Class II: Complementation group D RFXAP 4

Microsomal triglyceride transfer proteM MTP 2

Mitochondrial trifunctional protem, alpha HADHA 1 subumt

Mitochondrial trifunctional protein, beta subumt HADHB

Molybdenum cofactor synthesis 1 MOCS1

Molybdenum cofactor synthesis 2 MOCS2

Monoamine oxidase A MAOA

Monoamine oxidase B MAOB

Motilin MLN 6

Msh homeobox homolog 2 MSX2 6

Mucin 18 MUC18 2

Mucin, MUC2 2

Mucin, MUC5AC 2

Mucin, MUC6 2

Mucolipidoses GNPTA 1

Mulibrey na sm MUL 2

Muscarimc receptor, Ml CHRM1 5

Muscarimc receptor, M2 CHRM2 5

Muscarimc receptor, M3 CHRM3 5

Muscarimc receptor, M4 CHRM4 5

Muscarimc receptor, M5 CHRM5 5

Muscle phosphorylase PYGM 1

Mutated m colorectal cancers, MCC MCC 6

MutL homolog 1 MLHI 6

MutS homolog 2 MSH2 6

MutS homolog 3 MSH3 6

MyoglobM 2

Myosin 5A MY05A 3

Myosin 6 MY06 3

Myosin 7A MY07A 3

MyosM, cardiac MYH7 3

Myosin, light chain 2 MYL2 3

MyosM, light chain 3 MYL3 3

MyoMbularin MTM1 3

Na+, K+ ATPase, alpha ATP1A1 6

Na+, K+ ATPase, beta 1 ATP1B1 6

Na+, K+ ATPase, beta 2 ATP1B2 6

Na+, K+ ATPase, beta 3 ATP1B3 6

Na+/H+ exchanger 1 NHE1 2

Na+/H+ exchanger 2 NHE2 2

Na+/H+ exchanger 3 NHE3 2

Na+/H+ exchanger 4 NHE4 2

Na+/H+ exchanger 5 NHE5 2

Na+coupled glucose/galactose transporter 2 N-acetylgalactosanιMe-6-sulfate sulfatase GALNS 1

N-acetylglucosamine-6-sulfatase GNS 1

N-acetylglucosammidase, alpha NAGLU 1

NADH dehydrogenase 1

NADH dehydrogenase (ubiquMone) Fe-S NDUFS1 1 protein I

NADH dehydrogenase (ubiquinone) Fe-S NDUFS4 1 protein 4

NADH dehydrogenase (ubiquMone) NDUFV1 1 flavoprotein 1

NADH-cytocMome b5 reductase DIA1 1

NB6 4

NepMolitMasis 2 NPHL2 2

NepMonophtMsis 1 NPHP1 2

NepMonophtMsis 2 NPHP2 2

NepMosis 1 NPHS1 2

Nerve growth factor NGF 6

Nerve growth factor receptor NGFR 6

Neurammidase sialidase NEU 2

NeurofibromM 1 NF1 6

Neurofibromin 2 NF2 6

Neurokimn A NKNA 5

Neurokinm B NKNB 5

Neurotensin NTS 5

Neurotensin receptor NTSR1 5

Notch ligand -jagged I JAG 1, AGS 6

Nuclear factor I-kappa-B-like gene IKBL 4

Oncogene ERB 6

Oncogene ERB2 6

Oncogene ERBA 6

Oncogene ERBAL2 6

Oncogene GLI 1 GLI 6

Oncogene GLI2 GLI2 6

Oncogene GLI3 GLI3 6

Oncogene met MET 6

Oncogene myb MYB 6

Oncogene myc MYC 6

Oncogene n-myc 6

Oncogene ret RET 6

Oncogene r-myc 6

Oncogene sis PDGFB 6

Oncogene spil 6

Oncogene src 6

Oncogene v-Ki-ras2 KRAS2 6

Orexin ox 6

Orexin 1 receptor OX1R 6

Orexin 2 receptor OX2R 6 OmitMne transcarbamoylase OTC, NMEl 1

Osteopontin OPN 6

Paired box homeotic gene 2 PAX2 6

Paired box homeotic gene 3 PAX3 6

Paired box homeotic gene 6 PAX6 6

Paired box homeotic gene 8 PAX8 6

Palmitoyl-proteM tMoesterase PPT 2

Pancreatic amylase 1

Pancreatic colipase 2

Pancreatic lipase PNLIP

Pancreatic lipase related protein 1 PLRP1

Pancreatic lipase related protein 2 PLRP2

Paraoxonase PONI PONI

Paraoxonase PON2 PON2

Paraoxonase PON3

Parathyroid hormone PTH 6

Parathyroid hormone receptor PTHR1 6

Parathyroid hormone related-peptide PTHRP 6

Parathyroid hormone-like hormone PTHLH 6

Parvalbumin PVALB 6

Patched (DrosopMla) homolog, PTCH PTCH 6

Pepsin 2

Pepsmogen 1

Peptidases A 2

Peptidases B 2

Peptidases C 2

Peptidases D PEPD 2

Peptidases E 2

Peptidases S 2

Peroxidase, salivary SAPX 1

Peroxisomal membrane protein 1 PXMP1 3

Peroxisomal membrane protein 3 PXMP3 2

Peroxisome biogenesis factor 1 PEX1 2

Peroxisome biogenesis factor 19 PEX19 2

Peroxisome biogenesis factor 6 PEX6 2

Peroxisome biogenesis factor 7 PEX7 2

Peroxisome receptor 1 PXR1 2

Phenylalamne monooxygenase 1

Phosphatase & tensM homolog PTEN 6

Phosphate regulating gene with homologies to PHEX 6 endopeptidases on the X cMomosome

Phosphoenolpyruvate carboxykMase PCK1

PhosphofructokMase, liver PFKL

Phosphofructoldnase, muscle PFKM

Phosphoglucomutase

Phosphoglucose isomerase GPI

Phosphoglycerate kMase 1 PGKI Phosphoglycerate mutase 2 PGAM2 1 Phospholipase A2, group 10 PLA2G 10 4 Phospholipase A2, group IB PLA2G IB 4 Phospholipase A2, group 2A PLA2G2A 4 Phospholipase A2, group 2B PLA2G2B 4 Phospholipase A2, group 4A PLA2G4A 4 Phospholipase A2, group 4C PLA2G4C 4 Phospholipase A2, group 5 PLA2G5 4 Phospholipase A2, group 6 PLA2G6 4 Phospholipase C alpha 4 Phospholipase C beta 4 Phospholipase C delta PLCD1 4 Phospholipase C epsilon 4 Phospholipase C gamma PLCGI 4 Phosphomannomutase 2 PMM2 6 Phosphomannomutase 2 PMM2 2 Phosphomannose isomerase 1, PMI1 MPI 2 Phosphoribosyl pyrophosphate synthetase PRPS1 Phosphorylase kinase deficiency, liver PHK Phosphorylase kinase, alpha 1 (muscle) PHKA1 Phosphorylase kinase, alpha 2 PHKA2 Phosphorylase kMase, beta PHKB Phosphorylase kinase, delta Phosphorylase kinase, gamma 2 PHKG2 Plasminogen PLG

Plasminogen activator inMbitor 1 PAH Plasmmogen activator inMbitor 2 PA12 Plasminogen activator receptor, Urokinase UPAR, PLAUR Plasminogen activator, Tissue PLAT, TPA Plasminogen activator, Urokinase UPA, PLAU Platelet derived growth factor PDGF 6 Platelet derived growth factor receptor PDGFR 6 Platelet monamMe oxidase 2 Platelet-activatmg factor receptor PAFR 4 Polycystic kidney and hepatic disease 1 PKHD1 2 Polycystin 1 PKD1 2 Polycystin 2 PKD2 2

Polymorphonuclear elastase 2 Potassium inwardly-rectifying Channel Jl KCNJ1 5 Potassium mwardly-rectifying channel Jl 1 KCNJ 11 5 Potassium voltage-gated channel El KCNE1 5 Prekallikrem 4 PreproenkephalM PENK 5 Preproglucagon GCG, GLPL, GLP2 6 Preproglucagon 2 Preproinsulin 2 Procoliagen N-protease 1 Prolme dehydrogenase PRODH 1

Proline-rich proteM BstNI subfamily 1 PRB1 3

ProlMe-rich protem BstNI subfamily 3 PRB3 3

Prolme-rich protein BstNI subfamily 4 PRB4 3

Prolyl-4-hydroxylase 1

Pro-melamn-concentrating hormone PMCH 6

Proopiomelanocortin POMC 5

Prosapos PSAP 5

Prostacyclm synthase 4

ProstagiandM 15-OH dehydrogenase HGPD, PGDH 4

ProstagiandM D - DP receptor 4

ProstagiandM El receptor 4

ProstagiandM E2 receptor 4

ProstagiandM E3 receptor 4

Prostaglandin F - FP receptor 4

Prostagiandin F2 alpha receptor 4

ProstagiandM 12 receptor 2

Prostaglandin IP receptor 4

Protease inMbitor 1 2

Protective protein for beta-galactosidase PPGB 1

Protein C PROC 4

Protein C inMbitor PCI 4

Protein kinase B PRKB 4

Protein S PROSI 4

Protein tyrosine phosphatase, non-receptor PTPNI2 6 type 12

Protiirombm precursor F2 4

Pterin-4-alpha-carbinolamine PCBD

Pyruvate carboxylase PC 1

Pyruvate decarboxylase PDHA 1

Pyruvate kinase PKLR 1

Quinoid dihydropteridine reductase QDPR 1

Renal glutaminase 2

Remn REN 1

Replication factor C RFC2 1

Retinoblastoma 1 RB1 6

Retmol binding protem 1 2

Retinol binding protein 2 2

RetinoscMsis, X-linked, juvemle RS 6

RIGUI RIGUI 6

SA homolog SAH 6

Salivary amylase, AMY1 2

SAP (SLAM-associated proteM) SH2D1A 4

Secretin SCT 2

Secretin receptor, SCTR SCTR 2

SerotonM receptor, 5HT1 A HTR1A 5

SerotonM receptor, 5HT1B HTR1B 5 SerotonM receptor, 5HT1C HTR1C 5

SerotonM receptor, 5HT1D HTR1D 5

Serotomn receptor, 5HT1E HTR1E 5

Serotomn receptor, 5HT1F HTR1F 5

Serotomn receptor, 5HT2A HTR2A 5

Serotomn receptor, 5HT2B HTR2B 5

Serotomn receptor, 5HT2C HTR2C 5

SerotonM receptor, 5HT3 HTR3 5

Serotomn receptor, 5HT4 HTR4 5

Serotomn receptor, 5HT5 HTR5 5

Serotomn receptor, 5HT6 HTR6 5

Serotomn receptor, 5HT7 HTR7 5

Sodium channel, non-voltage gated 1, alpha SCNNIA 5

Sodium channel, non-voltage gated 1, beta SCNNIB 5

Sodium channel, non-voltage gated 1, gamma SCNNIG 5

Sodium channel, voltage-gated, type 1, beta SCNLB 5 polypeptide

Solute carrier fainily 10 (sodium/bile acid SLC10A1 2 cotransporter family),member 1

Solute carrier family 10 (sodium/bile acid SLC10A2 2 cotransporter family),member 2

Solute carrier family 12, member 1 SLC12A1 2

Solute carder family 12, member 2 SLC12A2 2

Solute carrier family 12, member 3 SLC12A3 2

Solute carrier family 14, member 2 SLC14A2 2

Solute carrier family 15 (H+/peptide SLC15A1 2 transporter, Mtestmal), member 1

So ute carrier family 15 (H+/peptide SLC15A2 2 transporter, kidney), member 2

Solute carrier family 16 (monocarboxylate SLC16A1 2 transporter), member 1

Solute carrier family 16 (monocarboxylate SLC16A7 2 tianspofter), member 7

Solute carrier family 17, member 1 SLC17A1 2

Solute carrier family 17, member 2 SLC17A2 2

Solute carrier family 2 (facilitated glucose SLC2A1 2 transporter), member 1

Solute carrier family 2 (facilitated glucose SLC2A2 2 transporter), member 2

Solute carrier family 2 (facilitated glucose SLC2A3 2 transporter), member 3

Solute carrier family 2 (facilitated glucose SLC2A4 2 transporter), member 4

Solute carrier family 2 (facilitated glucose SLC2A5 2 tianspofter), member 5

Solute carrier family 21, member 2 SLC21A2 2

Solute carrier family 21, member 3 SLC21A3 2 Solute carrier family 22, member 1 SLC22A1 2

Solute carrier family 22, member 2 SLC22A2 2

Solute carrier family 22, member 5 SLC22A5 2

Solute carrier family 3 (facilitated glucose SLC3A1 2 tiansporter), member 1

Solute carrier family 4 (amon exchanger), SLC4A1 member I

Solute carrier family 4 (amon exchanger), SLC4A2 member 2

Solute carrier family 4 (anion exchanger), SLC4A3 member 3

Solute camer family 5 (sodium/glucose SLC5A1 tiansporter), member 1

Solute carrier family 5 (sodium/glucose SLC5A2 transporter), member 2

Solute carrier family 5 (sodium/glucose SLC5A5 tianspofter), member 5

Solute carrier family 5, member 3 SLC5A3 2

Solute carrier family 6 (GAMMN- SLC6A1 2

AMIΝOBUTYRIC ACID transporter), member 1

Solute carrier family 6 (neurotiansmifter SLC6A3 tiansporter, dopamMe), member 3

Solute carrier family 6 (neurotiansmifter SLC6A2 transporter, noradrenalme), member 2

Solute carrier family 6, member 6 SLC6A6 2

Solute carrier family 7(amino acid tiansporters, SLC7AI 2 member 1

Solute carrier family 7(amino acid tiansporters, SLC7A2 2 member 2

Solute carrier family 7(amino acid tiansporters, SLC7A7 2 member 7

Somatostatin SST 5

Somatostatin receptor, SSTRl SSTRl 5

Somatostatin receptor, SSTR2 SSTR2 6

Somatostatin receptor, SSTR3 SSTR3 5

Somatostatin receptor, SSTR4 SSTR4 5

Somatostatin receptor, SSTR5 SSTR5 5

SpMngomyelinase SMPDl 1

Steroid 5 alpha reductase 1 SRD5A1 1

Steroid 5 alpha reductase 2 SRD5A2 1

Sterol carrier proteM 2 SCP2 2

Substance P 5

Succinyl CoA synthase 1

Sucrase 1

Sucrase-isomaltase SI 2

Superoxide dismutase 1 SOD1 1

Surfeit I SURF1 6 TalM TLN 6

Talm, TLN 3

TATA bmdmg proteM TBP 6

T-BOX 1 TBXI 6

T-BOX 2 TBX2 6

T-BOX 3 TBX3 6

TMolase, perioxisomal 1

TMombin receptor F2R 4

TMombopoietin THPO 6

TMomboxane A synthase 1 TBXAS1 4

Tip-associated protein TAP 4

Topoisomerase I 1

Torticolhs, keloids, cryptorcMdism and renal TKCR 6 dysplasia gene

Transacylase 1

Transcobalamin 1, TCN1 2

Transcobalamin 2, TCN2 TCN2 2

Transcription factor 1, hepatic TCF1 6

Transcription factor 2, hepatic TCF2 6

Transferrin TF 6

Transferrin receptor TFRC 6

Transformmg growth factor, beta 2 TGFB2 6

Transforming growth factor, beta Mduced TGFB1 6

Transforming growth factor, beta receptor 2 TGFBR2 6

Transglutaminase 4 TGM4 6

Transketolase TKT 1

Transketolase-like I TKTLI 1

Translocation in renal carcinoma on TRC8 6 cMomosome 8 gene

Transthyretin TTR 2

Trehalase 2

Triosephosphate isomerase TPI 1 1

Trypsin inMbitor 1

Trypsinogen 1 TRY1 1

Trypsinogen 2 TRY2 1

Trypsinogen activation peptide 2

Tuberous sclerosis 1 TSC1 6

Tuberous sclerosis 2 TSC2 6

Tumour necrosis factor (TNF) receptor TRAF1 4 associated factor 1

Tumour necrosis factor (TNF) receptor TRAF2 4 associated factor 2

Tumour necrosis factor (TNF) receptor TRAF3 4 associated factor 3

Tumour necrosis factor (TNF) receptor TRAF4 4 associated factor 4

Tumour necrosis factor (TNF) receptor TRAF5 4 associated factor 5

Tumour necrosis factor (TNF) receptor TRAF6 4 associated factor 6

Tumour necrosis factor alpha TNFA 4

Tumour necrosis factor alpha receptor TNFAR 4

Tumour necrosis factor beta TNFB 4

Tumour necrosis factor beta receptor TNFBR 4

Tumour proteM p53 TP53,P53 6

Tumour protem p63 TP63 6

Tumour suppresssor gene DRA DRA 4

Tyrosinase TYR

UDP-glucose pyrophosphorylase

UDP-glucuronosyltransferase 1 ugtld, UGT1

UDP-glucuronosyltiansferase 2 UGT2

Uridinediphosphate(UDP)-galactose-4- GALE epimerase

Uroporphyrinogen decarboxylase UROD

Uroporphyrinogen III synthase UROS

Vasoactive intestinal polypeptide VIP 5

Vasoactive intestinal polypeptide receptor VIPR 5

VasoinMbitory peptide 6

Villin 3

Von Hippel-Lindau gene VHL 6

Von Willebrand factor VWF 2

Wiskoft-Aldrich syndrome proteM WASP, THC 4

Wolf-Hirschhom syndrome candidate 1 gene WHSCl 6

Wolfram syndrome 1 gene WFSl 3

XantMne dehydrogenase XDH

Xeroderma pigmentosum, complementation XPA group A

Xeroderma pigmentosum, complementation XPB group B

Xeroderma pigmentosum, complementation XPC group C

Xeroderma pigmentosum, complementation group D

Xeroderma pigmentosum, complementation group E

Xeroderma pigmentosum, complementation XPF group F

Xeroderma, pigmentosum, complementation ERCC5 group G

Zinc finger protein 3 ZIC3 3

dass die mit FeMfunktion, Schädigung oder Erkrankung des Atmungssystems M Zusammenhang stehenden Gene ausgewäMt smd aus: Liste der Gene HUGO Protein-

Gensymbol funktion

11 beta hydroxysteroid dehydrogenase 2 HSD11B2

2,3-bisphosphoglycerate mutase BPGM

3 beta hydroxysteroid dehydrogenase 2 HSD3B2

Acetoacetyl 1-CoA-tMolase ACATl

Acetoacetyl 2-CoA-tMolase ACAT2

Acetyl CoA synthase

Acetylcholine receptor, mcotmic, gamma CHRNG

Acetylcholinesterase ACHE

Acomtase

Acyl CoA dehydrogenase, long chain ACADL

Acyl CoA dehydrogenase, medium chain ACADM

Acyl CoA dehydrogenase, short chain ACADS

Acyl CoA dehydrogenase, very long cham ACADVL

Adaptin, beta 3A ADTB3A 2

Adenosine deaminase ADA 1

Adenosine receptor AI ADORA1 5

Adenosine receptor A2A ADORA2A 5

Adenosine receptor A2B ADORA2B 5

Adenosine receptor A3 ADORA3 5

Adenylate cyclase 1 ADCY1

Adenylate cyclase 2 ADCY2

Adenylate cyclase 3 ADCY3

Adenylate cyclase 4 ADCY4

Adenylate cyclase 5 ADCY5

Adenylate cyclase 6 ADCY6

Adenylate cyclase 7 ADCY7

Adenylate cyclase 8 ADCY8

Adenylate cyclase 9 ADCY9

Adrenergic.receptor, alphal ADRA1 5

Adrenergic receptor, alpha2 ADRA2 5

Adrenergic receptor, betal ADRB1 5

Adrenergic receptor, beta2 ADRB2 5

Adrenergic receptor, beta3 ADRB3 5

AdrenocorticotropMc hormone (ACTH) ACTHR 6 receptor

Albumin, ALB ALB 2

Alcohol dehydrogenase 1 ADH1

Alcohol dehydrogenase 2 ADH2

Alcohol dehydrogenase 3 ADH3

Alcohol dehydrogenase 4 ADH4

Alcohol dehydrogenase 5 ADH5

Alcohol dehydrogenase 6 ADH6 Alcohol dehydrogenase 7 ADH7 1

Aldolase A ALDOA 1

Aldolase B ALDOB 1

Aldolase C ALDOC 1

Aldosterone receptor MLR 6

Alpha 2 macroglobulin A2M 4

Alphal -antichymotrypsin AACT 1 alphal -AntitrypsM Pl 1 alpha2-Antiplasmin PLI 1 alpha- Actimn 2 ACTN2 6 alpha- Actimn 3 ACTN3 6 alpha-Galactosidase A GLA 1 alpha-ketoglutarate dehydrogenase 1

Aminopeptidase P XPNPEP2 1

AmpMregulin AREG 6

Androgen receptor AR 6

Angiopoietin 1 ANGPT1 6

Angiopoietin 2 ANGPT2 6

Angiotensin converting enzyme ACE,DCP1 1

Angiotensin receptor 1 AGTR1 2

Angiotensin receptor 2 AGTR2 2

Angiotensinogen AGT 1

Annexin 1 ANX 1 1

Antidiuretic hormone receptor ADHR 2

AntitMombin III AT3 1

Apolipoprotein E APOE 2

Arginase ARG1 1

Argimne vasopressin AVP 5

Argimne vasopressin receptor 1 A AVPR1A 5

Argmine vasopressin receptor 1 B AVPR1B 5

Argimne vasopressin receptor 2 AVPR2 5

Argmosuccmate lyase ASL 1

Arylsulfatase D ARSD 1

Arylsulfatase E ARSE 1

Arylsulfatase F ARSF 1

Aspartate transaminase 2

Ataxia telangiectasia gene, AT ATM 6

ATP/ADP translocase 1

Atiial natriuretic peptide ANP 6

Atiial natriuretic peptide receptor A NPR1 , 6

Atiial natiiuretic peptide receptor B NPR2 6

Atiial natriuretic peptide receptor C NPR3 6 beta-galactosidase GLB1 1 beta-Glucuromdase GUSB 1

Blotimdase BTD 1

Bloom syndrome protein BLM 6

Bradykimn receptor Bl BradykMin receptor B2

Butyrylcholmesterase BCHE 1

Cl inMbitor 1

Cadherin E CDH1 6

Cadherin EP 6

Cadherin N CDH2 6

Cadherin P CDH3 6

Calcitomn receptor /Calcitomn gene-related CALCR 5 peptide receptor

Calcitomn/Calcitomn gene-related peptide CALCA 5 alpha

Calcium channel, voltage-dependent, alpha CACNA1F 5

IF subimit

Calcium channel, voltage-dependent, Alpha- CACNAL B 5

1B (CACNL1A5)

Calcium channel, voltage-dependent, Alpha- CACNA1C 5

1 C

Calcium channel, voltage-dependent, Alpha- CACNA1D 5

1 D

Calcium channel, voltage-dependent, Alpha- CACNA1E 5

E (CACNL1 A6)

Calcium channel, voltage-dependent, Alpha- CACNA2 5

2/delta

Ca cium channel, voltage-dependent, Beta 1 CACNB1 5

Calcium channel, voltage-dependent, Beta 3 CACNB3 5

Calcium channel, voltage-dependent, CACNG2 5

Neuronal, Gamma

Calcium channel, voltage-dependent, T-type 5

Calmodulin 1 CALM1 6

Calmodulin 2 CALM2 6

Calmodulin 3 CALM3 6

CaMexM CANX 6

Carbomc anhydrase 3 CA3

Carbomc anhydrase 4 CA4

Carbomc anhydrase, alpha CA1

Carbomc anhydrase, beta CA2

Camitine acetyltiansferase CRAT

Camitine acylcamitine tianslocase CACT

Catalase CAT 4

Cathepsin B

CathepsM D

CathepsM E

CathepsM G CTSG

CathepsM H

Cathepsin K CTSK

CathepsM L

Cathepsin S CD1 CD1 4

CD4 CD4 4

Cell adhesion molecule, Mtercellular, ICAM ICAM1 6

Cell adhesion molecule, leukocyte- LECAMl 6 endothelial, LECAM (CD62)

Cell adhesion molecule, liver, LCAM LCAM 6

Cell adhesion molecule, neural, NCAMl NCAMl 6

Cell adhesion molecule, neural, NCAM2 NCAM2 6

Cell adhesion molecule, platelet-endothelial, PECAMl 6

PECAM

Cell adhesion molecule, vascular, VCAM VCAMl 6

Chemokine receptor CXCR4 CXCR4 4

CMtotriosidase CHIT 1

Cholecystokimn CCK 5

Cholecystokimn B receptor CCKBR 5

Choline acetyltiansferase CHAT 1

Citrate synthase 1

Coenzyme Q (CoQ)/ubiquinone 1

Collagen I alpha 1 COL1A1 3

Collagen I alpha 2 COL1A2 3

Collagen II alpha 1 COL2A1 3

Collagen III alpha 1 COL3A1 3

Collagen IV alpha 1 COL4A1 3

Collagen IV alpha 2 COL4A2 3

Collagen IV alpha 3 COL4A3 3

Collagen IV alpha 4 COL4A4 3

Collagen IV alpha 5 COL4A5 3

Collagen IV alpha 6 COL4A6 3

Collagen IX alpha 2 COL9A2, EDM2 3

Collagen IX alpha 3 COL9A3 3

Collagen receptor COLR 3

Collagen V alpha 1 COL5A1 3

Collagen V alpha 2 COL5A2 3

Collagen VI alpha 1 COL6A1 3

Collagen VI alpha 2 COL6A2 3

Collagen VI alpha 3 COL6A3 3

Collagen VII alpha l COL7A1 3

Collagen X alpha 1 COL10A1 3

Collagen X alpha 1 COLI 1 AI 3

Collagen XI alpha 2 COL11A2 3

Collagen XVII alpha l COL17A1 3

Colony-stimulatMg factor 1 CSF1 6

Colony-stimulatMg factor 1 receptor CSF1R 6

Colony-stimulating factor 2 CSF2 6

Colony-stimulatMg factor 2 alpha receptor CSF2RA 6

Colony-stimulatMg factor 2 beta receptor CSF2RB 6

Colony-stimulatMg factor 3 CSF3 6 Colony-stimulatmg factor 3 receptor CSF3R 6 Complement component Cl MMbitor C1NH 4 Complement component Clqa CIQA 4 Complement component Clqb CIQB 4 Complement component Clqg CIQG 4 Complement component Clr CIR 4 Complement component Cls eis 4 Complement component C2 C2 4 Complement component C3 C3 4 Complement component C4A C4A 4 Complement component C4B C4B 4 Complement component C5 C5 4 Complement component C6 C6 4 Complement component C7 C7 4 Complement component C8 C8B 4 Complement component C9 C9 4 Complement component receptor 1 CR1 4 Complement component receptor 2 CR2 4 Complement component receptor 3 CR3 4 Complex I Complex II Complex III Complex III Complex V MTATP6

Coproporphyrinogen oxidase CPO CorticotropMn-releasing hormone CRH 2 CorticotropMn-releasing hormone receptor CRHR1 2 Cortisol receptor 4 C-reactive protein CRP 4 Creatine kMase - B and m CKBE 1 Creb binding proteM CREBBP 6

Cu2+ transportmg ATPase alpha polypeptide ATP7A Cyclic AMP-dependent protein kinase PKA Cyclic nucleotide phosphodiesterase IB PDE1B Cyclic nucleotide phosphodiesterase IBl PDE1B1 Cyclic nucleotide phosphodiesterase 2A3 PDE2A3 Cyclic nucleotide phosphodiesterase 3 A PDE3A Cyclic nucleotide phosphodiesterase 3B PDE3B Cyclic nucleotide phosphodiesterase 4A PDE4A Cyclic nucleotide phosphodiesterase 4C PDE4C Cyclic nucleotide phosphodiesterase 5 A PDE5A Cyclic nucleotide phosphodiesterase 6A PDE6A Cyclic nucleotide phosphodiesterase 6B PDE6B Cyclic nucleotide phosphodiesterase 7 PDE7 Cyclic nucleotide phosphodiesterase 8 PDE8 Cyclic nucleotide phosphodiesterase 9A PDE9A CyclM-dependent kMase 2 CDK2 CyclM-dependent kinase inMbitor 2A (p 16) CDKN2A 6

Cyclooxygenase 1 COX1 1

Cyclooxygenase 2 COX2 1

CYP11A1 CYP11A1 1

CYP11B1 CYP11B1 1

CYP11B2 CYP11B2 1

CYP17 CYP17 1

CYP19 CYP19 1

CYPIAI CYPIAI 1

CYP1A2 CYP1A2 1

CYP1B1 CYP1B1 1

CYP21 CYP21 1

CYP24 CYP24 1

CYP27 CYP27 1

CYP27B1 PDDR 1

CYP2A1 CYP2A1 1

CYP2A13 CYP2A13 1

CYP2A3 CYP2A3 1

CYP2A6V2 CYP2A6V2 1

CYP2A7 CYP2A7 1

CYP2B6 CYP2B6 1

CYP2C18 CYP2C18 1

CYP2C19 CYP2C19 1

CYP2C8 CYP2C8 1

CYP2C9 CYP2C9 1

CYP2D6 CYP2D6 1

CYP2E1 CYP2E1 1

CYP2F1 CYP2F1 1

CYP2J2 CYP2J2 1

CYP3A3 CYP3A3 1

CYP3A4 CYP3A4 1

CYP3A5 CYP3A5 1

CYP3A7 CYP3A7 1

CYP4A11 CYP4A11 1

CYP4B1 CYP4B1 1

CYP4F2 CYP4F2 1

CYP4F3 CYP4F3 1

CYP51 CYP51 1

CYP5A1 CYP5A1 1

CYP7A CYP7A 1

CYP8 CYP8 1

CystatMonase CTH 1

CystatMone beta synthase CBS 1

Cystic fibrosis transmembrane conductance CFTR 5 regulator, CFTR

Cytidine dearmnase CDA 1

Cytidine-5 -prime-tdphosphate synthetase CTPS 1 CytocMome a 1

CytocMome b-5 CYB5 1

CytocMome c 1

CytocMome c oxidase, MTCO 1

Cytokine-suppressive antiinflammatory drag- CSBPl 4 binding protein I

Cytokine-suppressive antiinflammatory dmg- CSBP2 bindmg protein 2

DAXl nuclear receptor DAXl 4

D-beta-hydroxybutyrate dehydrogenase 1

Delta 4-5 alpha-reductase 1

Desmin DES 3

Dihydrolipoamide dehydrogenase DLD 5

DNN glycosylases 1

Dopamine beta hydroxylase DBH 1

Dopamme receptors Dl DRD1 5

Dopamine receptors D2 DRD2 5

Dopamine receptors D3 DRD3 5

Dopamine receptors D4 DRD4 5

Dopamine receptors D5 DRD5 5

DystiopMn DMD 3

Elastase 1 ELAS1 1

Elastase 2 ELAS2 1

Elastin ELΝ 3

Electron-tiansfering-flavoprotein alpha ETFA 2

Electron-transfedng-flavoproteM beta ETFB 2

Election-tiansferring flavoprotein ETFDH 1 dehydrogenase

Endothelin 1 EDΝ1 5

Endothelm 2 EDΝ2 5

Endothelin 3 EDN3 5

Endothelin converting enzyme ECE1 5

Endothelin receptor type N EDNRA 5

Endothelin receptor type B EDNRB 5

Enolase EN01

Enoyl CoN hydratase

Enoyl CoN isomerase

Enoyl CoN reductase

Enterokinase PRSS7,ENTK

Ephrin receptor tyrosMe kinase N EPHA 6

Ephrin receptor tyrosine Idnase B EPHB 6

Epidermal growth factor EGF 6

Epidermal growth factor receptor EGFR 6

Epoxide hydrolase 1, microsomal EPHX1 1

Estrogen receptor ESR 6

EWS RΝN-binding proteM EWSR1 6

Eyes absent 1 EYA1 6 Faciogemtal dysplasia FGD1, FGDY 2

Factor 1 (No. one) FI 4

Factor B, properdin 4

Factor D 4

Factor H HF1 4

Factor I (letter 1) IF 4

Factor III F3 4

Factor IX F9 4

Factor V F5 4

Factor VII F7 4

Factor VIII F8 4

Factor X F10 4

Factor XI Fl l 4

Factor XII F12 4

Factor XIII A & B F13A & F13B 4

Fc fragment of IgG, Mgh affimty IA, receptor FCG1A 6 for

Fc fragment of IgG, low affimty Ila, receptor FCGR2A 6 for (CD32)

Fc fragment of IgG, low affimty lila, receptor FCGR3A 6 for (CD 1 6)

Fibrillin 1 FBN1 6

Fibrinogen alpha FGA 3

Fibrinogen beta FGB 3

Fibrinogen gamma FGG 3

Fibroblast growth factor FGF1 6

Fibroblast growth factor receptor 1 FGFR1 6

Fibroblast growth factor receptor 2 FGFR2 6

Fibroblast growth factor receptor 3 FGFR3 6

Fibronectin precursor FNI 6

Flightless-II, DrosopMla homolog of FLII 6

Follicle stimulating hormone receptor FSHR, ODGI 6

Follicle stimulatmg hormone, FSH FSHB 6

Forkhead rhabdomyosarcoma gene FKHR 6

Fmctose- 1 ,6-diphosphatase FBP1 1

Furin 2

GABA receptor, alpha 1 GABRA1 5

GABA receptor, alpha 2 GABRA2 5

GABA receptor, alpha 3 GABRA3 5

GABA receptor, alpha 4 GABRA4 5

GABA receptor, alpha 5 GABRA5 5

GABA receptor, alpha 6 GABRA6 5

GABA receptor, beta 1 GABRBI 5

GABA receptor, beta 2 GABRB2 5

GABA receptor, beta 3 GABRB3 5

GABA receptor, gamma 1 GABRG1 5

GABA receptor, gamma 2 GABRG2 5 GABA receptor, gamma 3 GABRG3 5

GABA transaπtinase ABAT 1

Galactocerebrosidase GALC 1

Galactosyltransferase 1 GT1 6

Galactosyltransferase, alpha 1,3 GGTA1 6

Galactosyltransferase, beta 3 B3GALT 6

Glucocorticoid receptor GRL 6

GlucokMase GCK 1

Glucosidase, acid alpha GAN 1

Glutamate dehydrogenase GLUD1 1

Giutamate receptor 1 GLUR1 5

Glutamate receptor 2 GLUR2 5

Glutamate receptor 3 GLUR3 5

Glutamate receptor 4 GLUR4 5

Glutamate receptor 5 GLUR5 5

Glutamate receptor 6 GLUR6 5

Glutamate receptor 7 GLUR7 5

Glutamate receptor, ionotropic, NMDA 1 ΝMDNR1 5

Glutamate receptor, ionotropic, NMDA 2A ΝMDNR2N 5

Glutamate receptor, ionotropic, NMDA 2B ΝMDNR2B 5

Glutamate receptor, ionotropic, NMDA 2C ΝMDNR2C 5

Glutamate receptor, ionotropic, NMDA 2D ΝMDNR2D 5

GlutatMone GSH 2

GlutatMone peroxidase, GPX1 GPX1

G utatMone peroxidase, GPX2 GPX2

GlutatMone reductase, GSR GSR

GlutatMone S-transferase mu 1, GSTMI GSTMI

GlutatMone S-transferase mu 4, GSTM4

GlutatMone S-transferase theta 1, GSTT1 GSTT1

GlutatMone S-transferase theta 2, GSTT2

GlutatMone S-transferase, GSTP1 GSTPI

GlutatMone S-transferase, GSTZI GSTZI

GlutatMone synthetase GSS

Glyceraldehyde-3 -phosphate GAPDH dehydrogenase, GAPDH

Glycerol Idnase GK

Glycinamide ribonucleotide (GAR) GART tiansformylase

GM2 ganglioside activator protein, GM2A GM2A

Growth arrest-specific homeobox GAX 6

Guanylyl cyclase

Haemoglobin alpha 1 HBN1 2

Haemoglobin alpha 2 HBN2 2

Haemoglobm beta HBB 2

Haemoglobin delta HBD 2

HaemoglobM gamma A HBG1 2

HaemoglobM gamma B HBG2 2 Haemoglobin gamma G HBGG 2

Heat shock proteM, HSP60 4

Heat shock proteM, HSP70 4

Heat shock protem, HSP90 4

Heat shock proteM, HSPN1 4

Heat shock protein, HSPA2 4

Heparin binding epidermal growth factor HBEGF 6

Heparin Cofactor II HCF2 4

Hermansky-pudlak syndrome gene HPS 2

Hexoldnase 1 HK1 1

HexokMase 2 HK2 1

Hexosamimdase A HEXNTSD 1

Histamine receptors, Hl 5

Histamine receptors, H2 5

Histamine receptors, H3 5

HMG-CoA lyase HMGCL 1

HMG-CoA reductase HMGCR 1

HMG-CoA synthase HMGCS2 1

Holocarboxylase synthetase HLCS 1

Hyaluromdase 2

Hypoxia inducible factor 1 HIF1A 1

Hypoxia Mducible factor 2 1

Immunoglobulin E (IgE) reponsiveness gene IGER 4

Immunoglobulin E (IgE) serum concentiation IGES 4 regulator gene

Immunoglobulin gamma (IgG) 2 IGHG2 4

InsulM INS 6

InsulM receptor INSR 6

InsulM-like growth factor 1 IGF1 6

InsulM-like growth factor 1 receptor IGF1R 6

Insulin-like growth factor 2 IGF2 6

Msulin-like growth factor 2 receptor IGF2R 6

Integrin beta 1 ITGB1 6

Integrin beta 2 ITGB2 6

Integrin beta 5 ITGB5 6

Mtegrin beta 6 ITGB6 6

Integrin, alpha M ITGAM 6

Inter-alpha-tiypsin inMbitor IATI 1

Interferon alpha IFNA1 4

Interferon beta IFNB 4

Interferon gamma IFNG 4

Mterferon gamma receptor 1 IFNGR1 4

Mterferon gamma receptor 2 IFNGR2 4

Mterferon regulatory factor 1 IRF1 4

Interferon regulatory factor 4 IRF4 4

MterleuldnQL) 1 receptor IL1R 4

InterleukMQL) 1, alpha IL1A 4 InterleukinQL) 1, beta IL1B 4

MterleukinQL) 10 IL10 4

InterleukMQL) 10 receptor IL10R 4

InterleukinQL) 11 IL11 4

InterleukMQL) 11 receptor IL11R 4

MterleukM(IL) 12 IL12 4

InterleukMQL) 12 receptor, beta 1 IL12RB1 4

InterleukM(IL) 13 IL13 4

InterleukinQL) 13 receptor IL13R 4

MterleukinQL) 2 IL2 4

InterleukinQL) 2 receptor, alpha IL2RA 4

InterleukMQL) 2 receptor, gamma IL2RG 4

InterleukinQL) 3 IL3 4

InterleukinQL) 3 receptor IL3R 4

MterleukinQL) 4 IL4 4

InterleukinQL) 4 receptor IL4R 4

MterleukinQL) 5 IL5 4

InterleukinQL) 5 receptor IL5R 4

MterleuldnQL) 6 IL6 4

MterleuldnQL) 6 receptor IL6R 4

Mterleukin(IL) 7 IL7 4

InterleukinQL) 7 receptor IL7R 4

MterleukinQL) 8 IL8 4

InterleukinQL) 8 receptor IL8R 4

MterleukinQL) 9 IL9 4

InterleukinQL) 9 receptor IL9R 4

InterleukinQL) receptor antagomst 1 IL1RN, IL1RA 4

Isocitiate dehydrogenase 1

Kallikrein 3 KAK3 4

Kimnogen, High molecular weight KNG 4

Kynuremnease 1

Lamimn 5, alpha 3 LAMA3 6

Lamimn 5, beta 3 LAMB3 6

Lamimn 5, gamma 2 LAMC2 6

Lamimn M LAMM 6

Lamimn receptor 1 LAMR1 6

Latent tiansforming growth factor-beta LTBP2 6 bMding protein 2

LecitMn-cholesterol acyltiansferase LCAT 1

Leptin LEP 6

Leptin receptor LEPR 6

Leukotriene A4 hydrolase 4

Leukotriene A4 synthase LTA4S 1

Leukotriene B4 receptor 4

Leukotriene B4 synthase LTB4S 1

Leukotriene C4 receptor 4

Leukotriene C4 synthase LTC4S 1 Leukotriene D4/E4 receptor 4

LIM homeobox protem 1 LHX1 6

Lipoamide dehydrogenase OGDH 1

Lipoprotem lipase LPL 4

Lipoprotein receptor, Low Density LDLR 2

Lipoprotein, High Density HDLDT1 2

Lipoprotein, Intermediate Density 2

Lipoprotein, Low Density 1 2

Lipoprotein, Low Density 2 2

Lipoprotein, Very Low Density VLDLR 2

Lipoxygenase 1

Low density lipoprotein receptor-related LRP 2 protein precursor

Lymphoid enhancer-bMdMg factor LEF-1 6

Lysosomal acid lipase LIPA 1

Lysozyme LYZ 4

MAD (mothers against decapentaplegic, MADH4 6

DrosopMla) homologue 4

Malate dehydrogenase, mitochondrial MDH2

Malonyl CoA transferase

Mannose binding proteM MBP

Mannosidase, alpha B lysosomal MANB

Mannosidase, beta A lysosomal MANBA

Matrix Gla protem MGP

Matrix metalloproteinase 1 MMP1

Matrix metalloproteinase 10 MMP10

Matrix metalloproteinase 11 MMP11

Matrix metalloproteinase 12 MMP12

Matiix metalloproteinase 13 MMP13

Matrix metalloproteinase 14 MMP14

Matrix metalloproteinase 15 MMP15

Matrix metalloproteinase 16 MMP16

Matrix metalloproteinase 17 MMP17

Matrix metalloprotemase 18 MMP18

Matrix metalloproteinase 19 MMP19

Matrix metalloproteinase 2 MMP2

Matrix metalloproteinase 3 MMP3, STMY1

Matiix metalloproteinase 4 MMP4

Matrix metalloproteinase 5 MMP5

Matrix metalloproteinase 6 MMP6

Matiix metalloprotemase 7 MMP7

Matrix metalloproteMase 8 MMP8

Matrix metalloprotemase 9 MMP9

MetMomne adenosyltransferase MAT1A, MAT2A

Midline I MIDI 6

Mitochondrial trifunctional proteM, alpha HADHA 1 subumt Mitochondrial trifunctional protem, beta HADHB 1 subimit

Monoamme oxidase A MAOA 1

Monoamine oxidase B MAOB 1

Muscarimc receptor, Ml CHRM1 5

Muscarimc receptor, M2 CHRM2 5

Muscarimc receptor, M3 CHRM3 5

Muscarmic receptor, M4 CHRM4 5

Muscarimc receptor, M5 CHRM5 5

Myoglobin 2

Myotubularin MTM1 3

Na+, K+ ATPase, alpha ATP1A1 6

Na+, K+ ATPase, beta 1 ATP1B1 6

Na+, K+ ATPase, beta 2 ATP1B2 6

Na+, K+ ATPase, beta 3 ATP1B3 6

NADH dehydrogenase

NADH dehydrogenase (ubiquinone) Fe-S NDUFS1 protein 1

NADH dehydrogenase (ubiquMone) Fe-S NDUFS4 protein 4

NADH dehydrogenase (ubiquinone) NDUFV1 flavoprotein 1

NADH-cytocMome b5 reductase DIA1 reductase

Nebulin NEB 3

NepMosis 1 NPHS1 2

Nerve growth factor NGF 6

Nerve growth factor receptor NGFR 6

Neurammidase sialidase NEU 2

Neuregulin HGL 6

Neurofibromin 1 NF1 6

Neurofibromin 2 NF2 6

Neurokimn A NKNA 5

Neurokimn B NKNB 5

Neuropeptide Y NPY 5

Neuropeptide Y receptor Yl NPY1 R 5

Neuropeptide Y receptor Y2 NPY2R 5

Nitric oxide synthase 1, NOS 1 NOSl 1

Nitric oxide synthase 2, NOS2 NOS2 1

Nitric oxide synthase 3, NOS3 NOS3 1

Notch ligand - jagged 1 JAG 1, AGS 6

Nucleoside diphosphate kinase-A NDPKA 1

Oncogene ELK1 ELK1 6

Oncogene ELK2 ELK2 6

Oncogene sis PDGFB 6

OmitMne delta-aminotiansferase OAT 1

Paired box homeotic gene 6 PAX6 6 Parathyroid hormone PTH 6 Parathyroid hormone receptor PTHR1 6 Parathyroid hormone related-peptide PTHRP 6 Parathyroid hormone-like hormone PTHLH 6 Patched (DrosopMla) homolog, PTCH PTCH 6 Peroxisomal membrane protein 3 PXMP3 2 Peroxisome biogenesis factor 1 PEX1 2 Peroxisome biogenesis factor 19 PEX19 2 Peroxisome biogenesis factor 6 PEX6 2 Peroxisome biogenesis factor 7 PEX7 2 Peroxisome receptor 1 PXR1 2 Phenylalamne hydroxylase PAH PhenylalanMe monooxygenase Phenylethanolamine N-methyltiansferase, PNMT PNMT

Phosphofructokinase, liver PFKL PhosphofructoMnase, muscle PFKM Phosphoglucomutase Phosphoglucose isomerase GPI Phosphoglycerate Idnase 1 PGK1 Phosphoglycerate mutase 2 PGAM2 Phospholipase A2, group 10 PLA2G 10 4 Phospholipase A2, group IB PLA2G1B 4 Phospholipase A2, group 2A PLA2G2A 4 Phospholipase A2, group 2B PLA2G2B 4 Phospholipase A2, group 4A PLA2G4A 4 Phospholipase A2, group 4C PLA2G4C 4 Phospholipase A2, group 5 P 2G5 Phospholipase A2, group 6 PLA2G6 4 Phospholipase C epsilon 4 Pineolytic beta-receptors 1 Plasminogen PLG 1

Plasminogen activator inMbitor 1 PAI 1 1 Plasminogen activator MMbitor 2 PA12 1 Plasminogen activator receptor, Urokmase UPAR;PLAUR 3 Plasminogen activator, Tissue PLAT;TPA 1 PlasmMogen activator, Urokinase UPA;PLAU 1 Platelet derived growth factor PDGF 6 Platelet derived growth factor receptor PDGFR 6 Platelet-activating factor receptor PAFR 4 Potassium Mwardly-rectifyMg channel Jl KCNJ1 5 Potassium voltage-gated channel El KCNE1 5 PrekallikreM 4 Procollagen N-protease 1 receptor) Proliferin PLF 6 Proopiomelanocortin POMC 5 Properdin P factor, complement PFC.PFD 4

Prosaposin PSAP 5

Prostacyclm synthase 4

Prostagiandin 15-OH dehydrogenase HGPD; PGDH 4

Prostaglandin D - DP receptor 4

Prostaglandin El receptor 4

Prostaglandm E2 receptor 4

ProstagiandM E3 receptor 4

Prostaglandin F - FP receptor 4

Prostaglandm F2 alpha receptor 4

Prostaglandin 12 receptor 2

Prostaglandin IP receptor 4

Protein C PROC 4

Protein C inMbitor PCI 4

Protein phosphatase 2, regulatory subimit A, PPP2R1B 1 beta isoform

Protein S PROS1 4

Protiirombin precursor F2 4

Pyruvate carboxylase PC

Pyruvate decarboxylase PDHA

Pyruvate Idnase PKLR

QuMoid dihydropteridine reductase QDPR

Remn REN

Replication factor C RFC2

Retinoblastoma 1 RB1 6

RIGUI RIGUI 6

Salivary amylase, AMY1 2

Selectin E SELE 5

Selectin L SELL 5

Selectin P SELP 5

Sedne hydroxymethyltiansferase SHMT 1

Serotomn receptor, 5HT1 A HTR1A 5

Serotomn receptor, 5HT1B HTR1B 5

Serotomn receptor, 5HT1C HTR1C 5

SerotonM receptor, 5HT1 D HTR1D 5

Serotomn receptor, 5HT1 E HTR1E 5

SerotonM receptor, 5HT1 F HTR1F 5

Serotomn receptor, 5HT2A HTR2A 5

SerotonM receptor, 5HT2B HTR2B 5

Serotomn receptor, 5HT2C HTR2C 5

SerotonM receptor, 5HT3 HTR3 5

Serotomn receptor, 5HT4 HTR4 5

SerotonM receptor, 5HT5 HTR5 5

Serotomn receptor, 5HT6 HTR6 5

SerotonM receptor, 5HT7 HTR7 5

Sodium Channel, non-voltage gated 1, alpha • SCNNIA 5

Sodium channel, non-voltage gated 1, beta SCNNIB 5 Sodium Channel, non-voltage gated 1, SCNNIG 5 gamma

Sodium channel, voltage gated, type TV, SCN4A 5 alpha polypeptide

Sodium Channel, voltage-gated, type 1, beta SCN1B 5 yκ)iy pep uc

Solute carrier family 21, member 2 SLC21A2 2

Solute carrier family 4 (amon exchanger), SLC4A1 2 member 1

Solute carrier family 4 (amon exchanger), SLC4A2 2 member 2

Solute carrier family 4 (amon exchanger), SLC4A3 2 member 3

Solute carrier family 6 (GAMMA- SLC6A1 2

AMINOBUTYRIC ACID transporter), member

1

Solute carrier family 6 (neurotiansmitter SLC6A3 2 transporter, dopamMe), member 3

Solute carrier family 6 (neurotransmitter SLC6A2 2 transporter, noradrenaline), member 2

Somatostatin receptor, SSTR2 SSTR2 6

SpMngomyelMase SMPDl 1

Substance P 5

Succinate dehydrogenase 2 SDH2

SuccMate tMokMase

Succinyl CoA synthase Superoxide dismutase 1 SODl Superoxide dismutase 3 SOD3 Surfactant pulmonary-associated protein AI SFTPAl 2 Surfactant pulmonary-associated protein A2 SFTPA2 2 Surfactant pulmonary-associated protein B SFTPB 2 Surfactant pulmonary-associated protein C SFTPC 2 Surfactant pMmonary-associated protein D SFTPD 2 Surfeit 1 SURFl 6

Survival of motor neuron 1, telomeric SMN1 2

Talin TLN 6

T-BOX 2 TBX2 6

T-BOX 3 TBX3 6

TEK, tyrosine kinase, endothelial TEK 1 Telomerase protein component 1 TMolase, perioxisomal 1 TMombin receptor F2R 4 TMombomodulM THBD 4

TMombopoietin THPO 6 TMombospondm THBSl 6 TMomboxane A synthase 1 TBXASl 4

TMomboxane A2 TXA2 4 TMomboxane A2 receptor TBXA2R 4

Thyroglobulin TG 6

Thyroid hormone receptor, alpha THRA 6

Thyroid hormone receptor, beta THRB 6

Thyroid peroxidase TPO 6

Thyroid receptor auxiliary proteM TRAP 6

Thyroid-stimulating hormone receptor TSHR 6

Thyroid-stimulating hormone, alpha TSHA 6

Thyroid-stimulating hormone, beta TSHB 6

Thyrotropm releasMg hormone receptor TRHR 6

Topoisomerase I 1

Transacylase 1

Transferrin TF 6

Transferrin receptor TFRC 6

Transforming growth factor, beta 2 TGFB2 6

Transforming growth factor, beta induced TGFBI 6

TransformMg growth factor, beta receptor 2 TGFBR2 6

Transketolase TKT 1

Transketolase-like 1 TKTL1 1

Triosephosphate isomerase TPI 1 1

Trypsin inMbitor 1

Uncoupling protein I 2

Uroporphyrinogen III synthase UROS 1

Vasoactive intestinal polypeptide receptor VIPR 5

VasoinMbitory peptide 6

Vitronectin receptor, alpha VΝRA 2

Von Hippel-Lindau gene VHL 6

Wolf-Hirschhom syndrome candidate 1 gene WHSCl 6

XantMne dehydrogenase XDH 1

Liste der Gene HUGO Protein¬

Gensymbol funktion

5,10-Methylenetetrahydrofolate reductase MTHFR 1

(NNDPH)

Ncetylcholinesterase ACHE 1

Ncidic amino acid transporter 2

Actin, alpha, cardiac ACTC 3

Actin, alpha, skeletal ACTAL 3

Actin, alpha, smooth, aortic ACTA2 3

Actin, beta ACTB 3

Actin, gamma 2 ACTG2 3

ADAM (A dismtegrin and metalloproteinase) 1 ADAM 1 1

ADAM (A disMtegrM and metalloproteMase) 10 ADAM 10 1

ADAM (A disMtegrM and metalloproteMase) 11 ADAM 11 1 ADAM (A dismtegrin and metalloproteMase) 12 ADAM 12

ADAM (A disintegrin and metalloproteinase) 13 ADAM 13

ADAM (A dismtegrin and metalloproteMase) 14 ADAM 14

ADAM (A dismtegrin and metalloproteMase) 15 ADAM 15

ADAM (A disintegrin and metalloproteinase) 16 ADAM 16

ADAM (A disintegrin and metalloproteMase) 17 ADAM 17

ADAM (A disintegrin and metalloproteMase) 18 ADAM 18

ADAM (A dismtegrin and metalloproteinase) 19 ADAM 19

ADAM (A disintegrm and metalloproteMase) 2 ADAM 2

ADAM (A disintegrin and metalloproteMase) 3 A ADAM 3A

ADAM (A disMtegrM and metalloproteinase) 3B ADAM 3B

ADAM (A dismtegrin and metalloproteinase) 4 ADAM 4

ADAM (A dismtegrin and metalloproteinase) 5 ADAM 5

ADAM (A disintegrin and metalloproteMase) 6 ADAM 6

ADAM (A disintegrin and metalloprotemase) 7 ADAM 7

ADAM (A disintegrin and metalloproteinase) 8 ADAM 8

ADAM (A disintegrin and metalloproteMase) 9 ADAM 9

Adducin, alpha ADD1 3

Adducin, beta ADD2 3

Adenosine deaminase ADA 1

Adenosine receptor AI ADORA1 5

Adenosme receptor A2A ADORA2A 5

AdenosMe receptor A2B ADORA2B 5

Adenosine receptor A3 ADORA3 5

Adenylate cyclase 1 ADCY1

Adenylate cyclase 2 ADCY2

Adenylate cyclase 3 ADCY3

Adenylate pyclase 4 ADCY4

Adenylate cyclase 5 ADCY5

Adenylate cyclase 6 ADCY6

Adenylate cyclase 7 ADCY7

Adenylate cyclase 8 ADCY8

Adenylate cyclase 9 ADCY9

Adrenergic receptor, alphal ADRA1 5

Adrenergic receptor, alpha2 ADRA2 5

Adrenergic receptor, betal ADRB1 5

Adrenergic receptor, beta2 ADRB2 5

Adrenergic receptor, beta3 ADRB3 5

AdrenocorticotropMc hormone (ACTH) ACTHR 6 receptor

Albumin, ALB ALB 2

Aldosterone receptor MLR 6

Alpha 1 acid glycoprotein AAG, AGP 2

Alpha 2 macroglobulin A2M 4 alphal-antitrypsin Pi 1 alpha2-antiplasmin PLI 1

Alpha-fetoproteM AFP 6 alpha-glucosidase, neutral AB GANAB 1 alpha-glucosidase, neutral C GANG 1

Ammopeptidase P XPNPEP2 1

Amylo- 1 ,6-glucosidase AGL 1

Amyloid beta A4 precursor protein APP 5

Amyloid beta A4 precursor-like protem APLP 5

Androgen bmdMg protein ABP 2

Androgen receptor AR 6

Angiopoietin 1 ANGPT1 6

Angiopoietin 2 ANGPT2 6

Angiotensin converting enzyme ACE,DCPI 1

AngiotensM receptor 1 AGTRL 2

Angiotensin receptor 2 AGTR2 2

Anglotensinogen AGT 1

Annexin I ANX 1 4

Antidiuretic hormone receptor ADHR 2

Anti-Mullerian hormone AMH 6

AntitMombM III AT3 1

Apaf-1 3

Apolipoprotem E APOE 2

Apoptosis antigen 1 APT1 4

Apoptosis antigen ligand 1 APT1LG1 4

Apoptosis-inducing factor AIF 4

Arginosuccinate lyase ASL 1

Aryi hydrocarbon receptor AHR 2

Asparagine synthetase AS 1

Aspartylglucosammidase AGA 1

Ataxia telangiectasia complementation group D ATD, ATDC 6

Ataxia telangiectasia gene, AT ATM 6

ATP-binding cassette tiansporter 7 ABC7 4

Attiactin 4

Autoimmune regulator, AIRE AIRE 4

B-cell CLL/lymphoma 1 BCL1 4

B-cell CLL/lymphoma 10 BCL10 4

B-cell CLL/lymphoma 3 BCL3 4

B-cell CLL/lymphoma 4 BCL4 4

B-cell CLL/lymphoma 5 BCL5 4

B-cell CLL/lymphoma 6 BCL6 4

B-cell CLUlymphoma 7 BCL7 4

B-cell CLL/lymphoma 8 BCL8 4

B-cell CLL/lymphoma 9 BCL9 4

BCL2-associated X proteM BAX 6

BCL2-related protein AI BCL2A1 6

Beckwith-Wiedemann region 1A BWR1A 6 beta 2 Microglobulm B2M 4

Bleomycm hydrolase BLMH 1

Bloom syndrome protein BLM 6 Bradykimn receptor Bl Bradykimn receptor B2 Brain derived neurotrophic factor BDNF 6 BraM derived neurotropMc factor (BDNF) BDNFR 6 receptor

BRCAI -associated RING domain gene 1 BARD1 6 Breakpoint cluster region BCR 6 Breast cancer I BRCAL 6 Breast cancer 2 BRCA2 6 Breast cancer, ductal, 1 BRCD1 6 Breast cancer, ductal, 2 BRCD2 6 Butyrylcholinesterase BCHE 1 C3 convertase 1 Cadherin E CDH1 6 Cadherin EP 6 Cadherin N CDH2 6 Cadherin P CDH3 6 Calbindin 1 CALB1 6 Calbindin D9K CALB3 6 Calcmeurin AI CALNA1 4 Calcineurin A2 CALNA2 4 Calcineurin A3 CALNA3 4 Calcineurin B 4

Calcitomn receptor /Calcitomn gene-related CALCR 5 peptide receptor

Calcitomn/Calcitomn gene-related peptide CALCA 5 alpha

Calcium Channel, voltage-dependent, Alpha IF CACNA1F 5 subimit

Calcium channel, voltage-dependent, Alpha- CACNA1B 5 1B (CACNL1A5)

Calcium channel, voltage-dependent, Alpha- CACNA1C 5 IC

Calcium channel, voltage-dependent, Alpha- CACNA1D 5 1D

Calcium channel, voltage-dependent, Alpha- CACNA1E 5 1E (CACNL1 A6)

Calcium channel, voltage-dependent, Alpha- CACNA2 5 2/delta

Calcium channel, voltage-dependent, Beta 1 CACNB1 5 Calcium channel, voltage-dependent, Beta 3 CACNB3 5 Calcium channel, voltage-dependent, L type, CACNA1S 5 alpha IS subumt

Calcium channel, voltage-dependent, CACNG2 5 Neuronal, Gamma

Calcium channel, voltage-dependent, P/Q CACNA1A 5 type, alpha 1 A subumt

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CD81 CD81 4

CD83 CD83 4

CD84 CD84 4

CD85 CD85 4

CD86 CD86 4

CD88 CD88 4

CD89 CD89 4

CD9 CD9 4

CD90 CD90 4

CD91 CD91 4

CD92 CD92 4 .

CD93 CD93 4

CD94 CD94 4

CD96 CD96 4

CD97 CD97 4

CD98 CD98 4

CD99 CD99 4

Cell adhesion molecule, intercellular, ICAM ICAM1 6

Cell adhesion molecule, leukocyte-endothelial, LECAMl 6

LECAM (CD62)

Cell adhesion molecule, liver, ICAM LCAM 6

Cell adhesion molecule, neural, NCAMl NCAMl 6

Cell adhesion molecule, neural, NCAM2 NCAM2 6

Cell adhesion molecule, platelet-endothelial, PECAMl 6

PECAM

Cell adhesion molecule, vascular, VCAM VCAMl 6

Chediak-HigasM syndrome 1 gene CHSl 2

Chemokine MCAF MCAF 4

ChemokMe receptor CCR2 CCR2 4

Chemokine receptor CCR3 CCR3 4

Chemokine receptor CCR5 CCR5 4

Chemokine receptor CXCRI CXCRI 4

Chemokine receptor CXCR2 CXCR2 4

Chemokine receptor CXCR4 CXCR4 4

Cholesteryiester hydrolase 4

Chondritin Sulphate A - placental receptor 4

CMomogramn A CHGA 6

Chymase CHY1

Clat M 2

CoA tiansferase 1

Collagen I alpha 1 COL1A1 3

Collagen I alpha 2 COL1A2 3

Collagen II alpha 1 COL2A1 3

Collagen III alpha 1 COL3A1 3

Collagen TV alpha 1 COL4A1 3

Collagen IV alpha 2 COL4A2 3

Collagen IV alpha 3 COL4A3 3 Collagen TV alpha 4 COL4A4 3 Collagen IV alpha 5 COL4A5 3 Collagen IV alpha 6 COL4A6 3 Collagen IX alpha 2 COL9A2, EDM2 3 Collagen IX alpha 3 COL9A3 3 Collagen receptor COLR 3 Collagen V alpha 1 COL5A1 3 Collagen V alpha 2 COL5A2 3 Collagen VI alpha 1 COL6A1 3 Collagen VI alpha 2 COL6A2 3 Collagen VI alpha 3 COL6A3 3 Collagen VII alpha 1 COL7A1 3 Collagen X alpha 1 COL10A1 3 Collagen XI alpha 1 COLI 1 AI 3 Collagen XI alpha 2 COL11A2 3 Collagen XVII alpha l COLL 7A1 3 Coliagemc-like tail subimit of asymmetric COLQ 1 acetylcholinesterase Colony-stimulating factor I CSF1 6 Colony-stimulating factor 1 receptor CSF1R 6 Colony-stimulating factor 2 CSF2 6 Colony-stimulating factor 2 alpha receptor CSF2RA 6 Colony-stimulating factor 2 beta receptor CSF2RB 6 Colony-stimulating factor 3 CSF3 6 Colony-stimulating factor 3 receptor CSF3R 6 Complement component Cl MMbitor C1 NH 4 Complement component Clqa CIQA 4 Complement component Clqb CLQB 4 Complement component Clqg CIQG 4 Complement component Clr CIR 4 Complement component Cls eis 4 Complement component C2 C2 4 Complement component C3 C3 4 Complement component C4A C4A 4 Complement component C4B C4B 4 Complement component C5 C5 4 Complement component C6 C6 4 Complement component C7 C7 4 Complement component C8 C8B 4 Complement component C9 C9 4 Complement component receptor 1 CR1 4 Complement component receptor 2 CR2 4 Complement component receptor 3 CR3 4 Contactin CNTN1 6

Core-bmd g factor, alpha 1 CBFA1 6 Core-bindMg factor, alpha 2 CBFA2 6 Core-bindmg factor, beta CBFB 6 Cortico-steroid bMdmg proteM 2

Corticosteroid nuclear receptor 4

CorticotropMn-releasing hormone CRH 2

CorticotropMn-releasmg hormone receptor CRHR1 2

Cortisol receptor

C-reactive protein CRP c-src tyrosme kMase CSK 6

Cyclic AMP response element bmdMg proteM CREB 6

Cyclic AMP-dependent proteM Idnase PKN

Cyclic nucleotide phosphodiesterase IB PDE1B

Cyclic nucleotide phosphod iesterase IBl PDE1B1

Cyclic nucleotide phosphodiesterase 2A3 PDE2A3

Cyclic nucleotide phosphodiesterase 3 A PDE3A

Cyclic nucteotide phosphodiesterase 3B PDE3B

Cyclic nucleotide phosphodiesterase 4A PDE4A

Cyclic nucleotide phosphodiesterase 4C PDE4C

Cyclic nucleotide phosphodiesterase 5 A PDE5A

Cyclic nucleotide phosphodiesterase 6A PDE6A

Cyclic nucleotide phosphodiesterase 6B PDE6B

Cyclic nucleotide phosphodiesterase 7 PDE7

Cyclic nucleotide phosphodiesterase 8 PDE8

Cyclic nucleotide phosphodiesterase 9A PDE9A

Cyclin D CCΝD1 6

Cyclin-dependent kinase 1 CDK1 6

Cyclin-dependent kinase 10 CDK10 6

Cyclin-dependent kinase 2 CDK2 6

Cyclin-dependent Idnase 3 CDK3 6

Cyclin-dependent kinase 4 CDK4 6

Cyclin-dependent Idnase 5 CDK5 6

Cyclin-dependent kinase 6 CDK6 6

Cyclm-dependent kinase 7 CDK7 6

Cyclin-dependent Idnase 8 CDK8 6

Cyclin-dependent kinase 9 CDK9 6

Cyclin-dependent kMase MMbitor 1A (P21, CDKΝ1A 6

CIPI)

CyclM-dependent kinase inMbitor 1 B (P27, CDKΝ 1B 6

KIP1)

Cyclin-dependent kinase inMbitor 1 C (P57, CDKΝ1C 6

KIP2)

Cyclin-dependent kinase inMbitor 2A (pl 6) CDKΝ2A 6

Cyclin-dependent Idnase inMbitor 3 CDKN3 6

Cyclooxygenase 1 COX1 1

Cyclooxygenase 2 COX2 1

CyclopMIM 4

CYP11A1 CYP11A1 1

CYP11B1 CYP11B1 1

CYP11B2 CYP11B2 1 CYP17 CYP17 1

CYP19 CYP19 1

CYPIAI CYPIAI 1

CYP1A2 CYP1A2 1

CYP1B1 CYP1B1 1

CYP21 CYP21 1

CYP24 CYP24 1

CYP27 CYP27 1

CYP27B1 PDDR 1

CYP2A1 CYP2A1 1

CYP2A13 CYP2A13 1

CYP2A3 CYP2A3 1

CYP2A6V2 CYP2A6V2 1

CYP2A7 CYP2A7 1

CYP2B6 CYP2B6 1

CYP2C18 CYP2C18 1

CYP2C19 CYP2C19 1

CYP2C8 CYP2C8 1

CYP2C9 CYP2C9 1

CYP2D6 CYP2D6 1

CYP2E1 CYP2E1 1

CYP2F1 CYP2F1 1

CYP2J2 CYP2J2 1

CYP3A3 CYP3A3 1

CYP3A4 CYP3A4 1

CYP3A5 CYP3A5 1

CYP3A7 CYP3A7 1

CYP4A11 CYP4A11 1

CYP4B1 CYP4B1 1

CYP4F2 CYP4F2 1

CYP4F3 CYP4F3 1

CYP51 CYP51 1

CYP5A1 CYP5A1 1

CYP7A CYP7A 1

CYP8 CYP8 1

CystatMonase CTH 1

CystatMone beta synthase CBS 1

Cystic fibrosis transmembrane conductance CFTR 5 regulator, CFTR

Cytidine deaminase CDA 1

Cytidme-5-prime-triphosphate synthetase CTPS 1

CytocMome a

CytocMome c

CytocMome c oxidase, MTCO

Cytokine-suppressive antiinflammatory drug- CSBPl bMding protein 1

Cytokine-suppressive antiinflammatory drug- CSBP2 4 bindmg protein 2

Defender agaMst cell death 1 DADl 6

Deleted in colorectal carcinoma DCC 6

Deoxycorticosterone (DOC) receptor 1

DeoxycytidMe kinase DCK 1

Dihydrolipoyl dehydrogenase 2 PDHA 1

Dihydrolipayl tiansacetylase PDHA 1

Dopamine receptors Dl DRD1 5

DopamMe receptors D2 DRD2 5

Dopamine receptors D3 DRD3 5

Dopamine receptors D4 DRD4 5

Dopamine receptors D5 DRD5 5

Duffy blood group FY 2

Dynamin DNM1 6

EB1 6

Elastase 1 ELAS1 1

Elastase 2 ELAS2 1

Endoglin ENG 3

Endo-P-D-glucuromdase 4

Enolase ENO1 1

ErytMoid kruppel-like factor EKLF 6

ErytMopoietin EPO 4

ErytMopoietin receptor EPOR 4

Estiogen receptor ESR 6

EWS RNA-bmdMg proteM EWSR1 6

Factor 1 (No. one) FI 4

Factor B, properdin 4

Factor D 4

Factor H HF1 4

Factor I (letter I) IF 4

Factor III F3 4

Factor IX F9 4

Factor V F5 4

Factor VII F7 4

Factor VIII F8 4

Factor X F10 4

Factor XI Fl l 4

Factor XII F12 4

Factor XIII A & B F13A & F13B 4

Fancom anemia, complementation group C FANCC 2

Fancom anemia, complementation group D FANCD 2

Fc fragment of IgG, low affimty Ila, receptor for FCGR2A 6

(CD32)

Fc receptor 4

Fibrinogen alpha FGA 3

Fibrinogen beta FGB 3

Fibrinogen gamma FGG 3 FibronectM precursor FN1 6

Follicle stimulating hormone receptor FSHR,ODGl 6

Follicle stimulating hormone, FSH FSHB 6

FoUicular lymphoma variant tianslocation 1 FVT1 4

Forkhead rhabdomyosarcoma gene FKHR 6

Forkhead tianscription factor 7 FKHL7 6

Galactosyltransferase 1 GT1 6

Galactosyltransferase, alpha 1,3 GGTA1 6

Galactosyltransferase, beta 3 B3GALT 6

Glial-cell derived neurotropMc factor (GDNF) 5 receptor

Glial-cell derived neurotropMc factor, GDNF GDNF 5

Glucosaminyl (N-acetyl) tiansferase 2, 1- GCNT2 1 brancMng enzyme

Glutamate receptor 1 GLUR1 5

Glutamate receptor 2 GLUR2 5

Glutamate receptor 3 GLUR3 5

Glutamate receptor 4 GLUR4 5

Glutamate receptor 5 GLUR5 5

Glutamate receptor 6 GLUR6 5

Glutamate receptor 7 GLUR7 5

Glutamate receptor, ionotropic, NMDA 1 NMDAR1 5

Glutamate receptor, ionotropic, NMDA 2A NMDAR2A 5

Glutamate receptor, ionotropic, NMDA 2B NMDAR2B 5

Glutamate receptor, ionotropic, NMDA 2C NMDAR2C 5

Glutamate receptor, ionotropic, NMDA 2D NMDAR2D 5

Glutamine synthase 1

GlutatMone GSH 2

GlutatMone peroxidase, GPX1 GPX1

GlutatMone peroxidase, GPX2 GPX2

GlutatMone S-transferase mu 1, GSTMI GSTMI

GlutatMone S-transferase mu 4, GSTM4

GlutatMone S-transferase, GSTZI GSTZI

Glyceraldehyde-3 -phosphate dehydrogenase, GAPDH

GAPDH

Glycerol kinase GK

Glycinamide ribonucleotide (GAR) GART tiansformylase

Glycophorin A GYPA 3

Glycophorin B GYPB 3

Glycophorin C GYPC 3

Glycosyltiansferases, ABO blood group ABO 1

Glypican 3 GPC3, SDYS 6

Gonadotropin releasing hormone receptor GNRHR 6

Growth-regulated proteM precursor, GRO GRO 4

Guamne nucleotide-bmdMg proteM, alpha GNAI1 5

MMbitMg activity polypeptide 1, GNAI1 Guamne nucleotide-binding proteM, alpha GNAI2 5 inMbiting activity polypeptide 2, GNAI2

Guamne nucleotide-bMdmg proteM, alpha GNAI3 5 inMbiting activity polypeptide 3, GNAI3

Guamne nucleotide-bindmg proteM, alpha GNAS1 5 stimulating activity polypeptide, GNAS1

Guamne nucleotide-bMding proteM, alpha GNAS2 5 stimulating activity polypeptide, GNAS2

Guamne nucleotide-bMding protein, alpha GNAS3 5 stimulating activity polypeptide, GNAS3

Guamne nucleotide-binding protem, alpha GNAS4 5 stimulating activity polypeptide, GNAS4

Guamne nucleotide-binding protein, q GNAQ 5 polypeptide

H(+), K(+) - ATPase ATP4B 5

Haemoglobm alpha 1 HBA1 2

Haemoglobm alpha 2 HBA2 2

Haemoglobin beta HBB 2

Haemoglobin delta HBD 2

Haemoglobin gamma A HBG1 2

Haemoglobin gamma B HBG2 2

Haemoglobin gamma G HBGG 2

Haptoglobin, alpha 1 HPA1 4

Haptoglobin, alpha 2 HPA2 4

Haptoglobin, beta HPB 4

HemocMomatosis HFE 2

Heparin binding epidermal growth factor HBEGF 6

Heparin Cofactor 11 HCF2 4

Hepatitis B virus Mtegration site 1 HVBS1 4

Hepatitis B virus tegration site 2 HVBS6 4

High mobility group protein C HMGIC 6

High mobility group protein Y HMGIY 6

Histamine receptors, Hl 5

Histamine receptors, H2 5

Histamine receptors, H3 5

Histatin 1 4

Histatin 2 4

Histatin 3 HTN3 4

HLA-B associated transcript 1 BAT1 4

Holocarboxylase synthetase HLCS 1

Homeobox II HOX11 6

Homeobox HB24 HLX1 6

IC7 A and B 4

Ikaros gene IKAROS 6

Immunoglobulin alpha (IgA) IGHA 4

Immunoglobulin delta (IgD) IGHD 4 lmmunoglobulM E (IgE) reponsiveness gene IGER 4 Immunoglobulm E (IgE) serum concentration IGES 4 regulator gene

ImmunoglobulM epsilon (IgE) IGHE 4

ImmunoglobulM gamma (IgG) 2 IGHG2 4

Immunoglobulin heavy mu chain IGHM 4

Immunoglobulin J polypeptide IGJ 4

Immunoglobulin kappa constant region IGKC 4

ImmimoglobulM kappa variable region IGKV 4 sulm-like growth factor 1 IGF1 6

Msulm-like growth factor 1 receptor IGF1R 6

Msulin-like growth factor 2 IGF2 6

Insulin-like growth factor 2 receptor IGF2R 6

Integrin beta 1 ITGB1 6

Integrin beta 2 ITGB2 6

Integrin beta 3 ITGB3 6

Integrin beta 4 ITGB4 6

Mtegrin beta 5 ITGB5 6

Integrin beta 6 ITGB6 6

Mtegrin beta 7 ITGB7 6

Mtegrin, alpha 1 ITGAI 6

Integrin, alpha 2 ITGA2 6

Integrin, alpha 4 ITGA4 6

Integrin, alpha 5 ITGA5 6

Integrin, alpha 6 ITGA6 6

Integrin, alpha M ITGAM 6

Intercellular adhesion molecule 1 ICAM1 4

Intercellular adhesion molecule 2 ICAM2 4

Mtercellular adhesion molecule 3 ICAM3 4

Interferon alpha IFNA1 4

Interferon beta IFNB 4

Interferon gamma IFNG 4

Mterferon gamma receptor 1 IFNGR1 4

Interferon gamma receptor 2 IFNGR2 4

Interferon regulatory factor 1 IRF1 4

Mterferon regulatory factor 4 IRF4 4

InterleukinQL) 1 receptor IL1R 4

InterleukinQL) 1, alpha IL1A 4

InterleukMQL) 1, beta IL1B 4

MterleukinQL) 10 IL10 4

MterleukinQL) 10 receptor IL10R 4

InterleukinQL) 11 IL11 4

InterleukinQL) 11 receptor IL11R 4

Mterleukin(IL) 12 IL12 4

InterleukinQL) 12 receptor, beta 1 IL12RB1 4

InterleukinQL) 13 IL13 4

InterleukMQL) 13 receptor IL13R 4

Mterleukin(IL) 2 IL2 4 InterleukMQL) 2 receptor, alpha IL2RA 4

MterieukMQL) 2 receptor, gamma IL2RG 4

InterleukMQL) 3 IL3 4

Interleukin(IL) 3 receptor IL3R 4

MterleukinQL) 4 IL4 4

MterleukinQL) 4 receptor IL4R 4

InterleukinQL) 5 IL5 4

InterleukinQL) 5 receptor IL5R 4

InterleukinQL) 6 IL6 4

InterleukinQL) 6 receptor IL6R 4

Mterleukin(IL) 7 IL7 4

InterleukinQL) 7 receptor IL7R 4

InterleukinQL) 8 IL8 4

InterleukinQL) 8 receptor IL8R 4

InterleukinQL) 9 IL9 4

InterleukMQL) 9 receptor IL9R 4

InterleukinQL) receptor antagomst 1 HIRN, IL1RA 4

Janus Idnase 1 JAK1 6

Janus Idnase 2 JAK2 6

Janus kinase 3 JAK3 6

KallikreM 3 KAK3 4

Kell blood group precursor XK, KEL 2

Kimnogen, High molecular weight KNG 4

Kynuremnease 1

Lactotiansferrin LTF 2

Lamimn 5, alpha 3 LAMA3 6

Lamimn 5, beta 3 LAMB3 6

LamMM 5, gamma 2 LAMC2 6

Lammin M LAMM 6

Lamimn receptor 1 LAMR1 6

Latent transforming growth factor-beta binding LTBP2 6 protein 2

Lectin, mannose-binding 1 LMAN1 4

Lectin, mannose-bmdMg 2 MBL2 4

Leptin LEP 6

Leptin receptor LEPR 6

Leukaemia inMbitory factor LIF 6

Leukaemia inMbitory factor receptor LIFR 6

Leukin 4

Leukocyte-specific transcript I LST-1 4

Leukotriene A4 hydrolase 4

Leukotriene A4 synthase LTA4S 1

Leukotriene B4 receptor 4

Leukotriene B4 synthase LTB4S 1

Leukotriene C4 receptor 4

Leukotriene C4 synthase LTC4S 1

Leukotriene D4/E4 receptor 4 LIM homeobox protein 1 LHX1 6

LIM homeobox protein 2 LHX2 6

LIM homeobox protein 3 LHX3 6

LIM homeobox proteM 4 LHX4 6

LIM-domam only protein 1 LM01 6

LIM-domain oMy protein 2 LM02 6

LIM-domain oMy protein 3 LM03 - 6

LIM-domain oMy protein 4 LM04 6

LIM-KMase I (LINK-1) 4

Lipocortin 1 ANX4 4

Lipoprotein-associated coagulation factor LACI 4

Lipoxygenase 12 (platelets) LOG12 4

Lipoxygenase 5 (leukocytes) 4

Lymphoblastic leukemia derived sequence 1 LYLL 4

Lymphocyte-specific protein tyrosine Idnase LCK 4

Lymphoid enhancer-binding factor LEF-1 6 lymphotoxm 4

Lysozyme LYZ 4

Macrophage activatMg factor MAF 4

Macrophage inflammatory protein- 1 MIP1 4

Macrophage inflammatory protein- 1 receptor 4

Macrophage Mflammatory protein-2 MIP2 4

Macrophage inflammatory protein-2 receptor

MAD (mothers against decapentaplegic, MADH3 6

DrosopMla) homologue 3

MAD (mothers agaMst decapentaplegic, MADH4 6

DrosopMla) homologue 4

Malignant proliferation, eosinopMl gene MPE 4

Mannose bmding protein MBP 4

Mannosidase, alpha B lysosomal MANB 1

Marenostrin MEFV 2

Matrix metalloproteinase 1 MMP1

Matrix metalloproteinase 10 NMP10

Matrix metalloproteinase 11 MMP11

Matrix metalloproteMase 12 MMP12

Matrix metalloproteMase 13 MMP13

Matrix metalloproteMase 14 MMP14

Matrix metalloproteinase 15 MMP15

Matrix metalloproteinase 16 MMP16

Matrix metalloproteinase 17 MMP17

Matrix metalloproteinase 18 MMP18

Matrix metalloprotemase 19 MMP19

Matrix metalloproteMase 2 MMP2

Matrix metalloproteMase 3 MMP3, STMY1

Matrix metalloproteMase 4 MMP4

Matrix metalloproteMase 5 MMP5

Matrix metalloproteMase 6 MMP6 Matrix metalloproteinase 7 MMP7 1

Matiix metalloproteinase 8 MMP8 1

Matiix metalloproteinase 9 MMP9 1

MHC Class I: A 4

MHC Class I: B 4

MHC Class I: C 4

MHC Class I: LMP-2, LMP-7 4

MHC Class I: Tapl ABCR,TAP1 4

MHC Class II: DP HLA-DPB1 4

MHC Class II: DQ 4

MHC Class II: DR 4

MHC Class II: Tap2 TAP2,PSF2 4

MHC Class ILComplementation group A MHC2TA 4

MHC Class ILComplementation group B RFXANK 4

MHC Class ILComplementation group C RFX5 4

MHC Class ILComplementation group D RFXAP 4

Monocyte chemoattractant protein I MCP1

Mucin 18 MUC18 2

Mutated in colorectal cancers, MCC MCC 6

MutL homolog 1 MLH1 6

MutS homolog 2 MSH2 6

MutS homolog 3 MSH3 6

Myeloid leukemia factor- 1 MLF1

Myeloperoxidase MPO

Myoglobm 2

Myosin 5A MY05A 3

N-acyl hydrolase 4

NADPH oxidase 4 reductase

Natural resistance-associated macrophage NRAMP1 4 protein 1

NB6 4

Nerve growth factor NGF 6

Nerve growth factor receptor NGFR 6

Neurofibromin 1 NF1 6

Neurofibromin 2 NF2 6

Neurokimn A NKNA 5

Neurokimn B NKNB 5

Neuropeptide Y NPY 5

Neuropeptide Y receptor Yl NPY1R 5

Neuropeptide Y receptor Y2 NPY2R 5

Neutral endopeptidase 1

NeutiopMl cystolic factor 1 NCF1 4

NeutiopMl cystolic factor 2 NCF2 4

Nitric oxide synthase 1, NOSl NOSl 1

Nitiic oxide synthase 2, NOS2 NOS2 1

Nitric oxide synthase 3, NOS3 NOS3 1 Norrie disease protein NDP 6

Notch 3 NOTCH3 6

Notch ligand -jagged 1 JAG 1, AGS 6

Nuclear factor 1-kappa-B-like gene IKBL 4

Nuclear factor kappa beta NFKB 4

Nuclear factor of activated T cells (NFAT) NFATC 6 complex, cytosolic

Nuclear factor of activated T cells (NFAT) NFATP 6 complex, preexisting component

Nucleoside diphosphate kinase-A NDPKA 1

Oncogene bcI2 6

Oncogene ELK1 ELK1 6

Oncogene ELK2 ELK2 6

Oncogene ERG (early reponse gene) 6

Oncogene GLI1 GLI1 6

Oncogene GLI2 GLI2 6

Oncogene GLI3 GLI3 6

Oncogene spil 6

Oncogene TEL ETV6 6

Oncostatin M OSM 6

Oncostatin M receptor OSMR 6

OmitMne delta-aminotransferase OAT 1

Osteonectin ON 6

Osteopontin OPN 6

Paired box homeotic gene 3 PAX3 6

Paired box homeotic gene 7 PAX7 6

Patched (DrosopMla) homolog, PTCH PTCH 6

Peanut-like 1 PNUTL1 4

Phagocytin 4

Phenylethanolamine N-methyltransferase, PNMT 1

PNMT

Phosphatidylinositol glycan, classA PIGA 6

(paroxysmal nocturnal hemoglobmuria)

Phospholipase A2, group 10 PLA2G10 4

Phospholipase A2, group IB PLA2GIB 4

Phospholipase A2, group 2A PLA2G2A 4

Phospholipase A2, group 2B PLA2G2B 4

Phospholipase A2, group 4A PLA2G4A 4

Phospholipase A2, group 4C PLA2G4C 4

Phospholipase A2, group 5 PLA2G5 4

Phospholipase A2, group 6 PLA2G6 4

Phospholipase C alpha 4

Phospholipase C beta 4

Phospholipase C delta PLCD1 4

Phospholipase C epsilon 4

Phospholipase C gamma PLCG1 4

Phosphomannomutase-2 PMM2 2 PlakopMIM 1 PKP1 2

PlasmMogen PLG 1

PlasmMogen activator inMbitor 1 PAI I 1

PlasmMogen activator inMbitor 2 PA12 1

PlasmMogen activator receptor, Urokinase UPAR;PLAUR 3

PlasmMogen activator, Tissue PLAT,TPA 1

Plasminogen activator, Urokinase UPA;PLAU 1

Platelet glycoprotein lb, alpha GPIBA 4

Platelet glycoprotein lb, beta GPLBB 4

Platelet glycoprotein I b, gamma GPLBG 4

Platelet glycoprotein IX GP9 4

Platelet glycoprotein V GP5 4

Platelet-activatMg factor acetylhydrolase 1 B PAFAHlBl or LISl 4

Platelet-activating factor acetylhydrolase 2 PAFAH2 4

Platelet-activating factor receptor PAFR 4

Poliovirus receptor PVR,PVS 4

Potassium channel, calcium-activated, KCNN4 5

Potassium inwardly-rectifying Channel Jl KCNJ1 5

Potassium inwardly-rectifying Channel Jl 1 KCNJ11 5

Potassium voltage-gated channel AI KCNA1 5

Potassium voltage-gated channel El KCNE1 5

Potassium vo tage-gated channel Ql KCNQl 5

Potassium voltage-gated channel Q2 KCNQ2 5

Potassium voltage-gated channel Q3 KCNQ3 5

Prekallikrein 4

Preproenkephalin PENK 5

Procoliagen N-protease 1

Promyelocytic leukemia gene PML 6

Proopiomelanocortin POMC 5

Properdin P factor, complement PFC, PFD 4

Prostacyclin synthase 4

Prostaglandin (PG) D synthase, hematopoietic PGDS 1

ProstagiandM 15 -OH dehydrogenase HGPD;PGDH 4

Prostaglandin D - DP receptor 4

Prostaglandin El receptor 4

Prostaglandin E2 receptor 4

Prostaglandin E3 receptor 4

Prostaglandin F - FP receptor 4

Prostaglandin 12 receptor 2

Prostaglandm IP receptor 4

ProstagiandM isomerase 6

Prostaglandin-endoperoxidase synthase 2 PTGS2 6

Protease inMbitor 1 2

Protein C PROC 4

ProteM C MMbitor PCI 4

Protein Mnase A 1

Protein kinase C, alpha PRKCA 1 Protein kinase C, gamma PRKCG 1

Protem kinase DNA-activated PRKDC 1

Protein Idnase G 1

Protein phosphatase 1, regulatory (inMbitor) PPP1R3 1 subumt 3

Protem phosphatase 2, regulatory subumt A, PPP2R1B 1 beta isoform

Protein S PROS1 4

Protem tyrosine phosphatase, non-receptor PTPNI2 6 type 12

Proteinase 3

Protiirombin precursor F2 4

Purine nucleoside phosphorylase NP 1

Pyruvate decarboxylase PDHA 1

Retinoblastoma 1 RB1 6

Retinol bmding protein 4 RBP4 2

Rhesus blood group, CcEe antigens RHCE 2

Rhesus blood group, D antigen RHD 2

Rhesus blood group-associated glycoprotein RHAG 2

Ribosomal protein S 1 9 RPS19 1

RIGUI RIGUI 6

S 100 calcium-binding protein A2 S100A2 5

S100 calcium-bmding proteM A3 S100A3 5

S100 calcium-binding protein A5 S100A5 5

S100 calcium-binding protein A6 S100A6 5

S100 calcium-binding proteM A7 S100A7 5

S100 calcium-bindmg protein A8 S100A8 5

S100 calcium-binding protein P S100P 5

SAP (SLAM associated protein) SH2D1A 4

Selectin E SELE 5

Selectin L SELL 5

Selectin P SELP 5

Serotomn receptor, 5HT1 A HTR1A 5

SerotonM receptor, 5HT1B HTR1B 5

Serotomn receptor, 5HT1C HTR1C 5

Serotomn receptor, 5HT1D HTR1D 5

Serotomn receptor, 5HT1E HTR1E 5

Serotomn receptor, 5HT1F HTR1F 5

SerotonM receptor, 5HT2A HTR2A 5

SerotonM receptor, 5HT2B HTR2B 5

Serotomn receptor, 5HT2C HTR2C 5

Serotomn receptor, 5HT3 HTR3 5

Serotomn receptor, 5HT4 HTR4 5

SerotonM receptor, 5HT5 HTR5 5

Serotomn receptor, 5HT6 HTR6 5

Serotomn receptor, 5HT7 HTR7 5

Severe combMed immunodeficiency, type A SCIDA 4 (Athabascan)

Signal tiansducer and activator of transcription STAT1 6

1

Signal transducer and activator of transcription STAT2 6

2

Signal tiansducer and activator of tianscription STAT3 6

3

Signal transducer and activator of tianscription STAT4 6

4

Signal tiansducer and activator of tianscription STAT5 6

5

Signaling lymphocyte activation molecule SLAM 4

Sme oculis homeobox, drosopMla, homolog 1 SLX1 6

Sine oculis homeobox, drosopMla, homolog 2 SIX2 6

Sjoegren (Sjogren) syndrome antigen AI SSAl 4

Sodium Channel, non-voltage gated 1, alpha SCNNIA 5

Sodium channel, non-voltage gated 1, beta SCNNIB 5

Sodium channel, non-voltage gated 1, gamma SCNNIG 5

Sodium channel, voltage gated, type V, alpha SCN5A 5 polypeptide

Sodium channel, voltage-gated, type 1, beta SCN1B polypeptide

Solute carrier family 19 (folate transporter), SLC19A1 member 1

Solute carrier family 20, member 1 SLC20A1 2

Solute carrier family 20, member 2 SLC20A2 2

Solute carrier family 5 (sodium/glucose SLC5A1 2 tiansporter), member 1

Solute carrier family 5 (sodium/glucose SLC5A2 tiansporter), member 2

Solute carrier family 5 (sodium/glucose SLC5A5 tiansporter), member 5

Solute carrier family 5, member 3 SLC5A3 2

Sorcin SRI 2

Sperm prolamMe Pl PRMl 6

Sperm prolamine P2 PRM2 6

Stern cell factor SCF 6

Stromal derived factor 1 SDF1 6

Succinate dehydrogenase 1 SDHL 1

Succinate tMokMase 1

Superoxide dismutase 1 SODl 1

Superoxide dismutase 3 SOD3 1

SYK-related tyrosine kMase SRK 4

Talin TLN 6

Talm, TLN 3

T-cell acute lymphocytic leukemia 1 TAL1 4

T-cell acute lymphocytic leukemia 2 TAL2 4 T-cell receptor, alpha TCRA 4

T-cell receptor, delta TCRD 4

Tenascin (cytotactin) 3

Tenascin XA TNXA 3

Terminal deoxynucleotidyltiansferase TDT 4

Terminal deoxynucleotidyltiansferase, TDT 1

TMombM receptor F2R 4

TMombopoietin THPO 6

TMombospondin THBSl 6

TMomboxane A synthase I TBXASl 4

TMomboxane A2 TXA2 4

TMomboxane A2 receptor TBXA2R 4

Thy-1 T-cell antigen THY1 4

Thymic humoral factor 4

Thymopoietin TMPO 6

Thymosin 4

TIE receptor tyrosine kinase TIE-1 6

Tip-associated protein TAP 4

Toll-like receptor 4 TLR4 4

Topoisomerase I 1

Topoisomerase II 2

Transcobalam 2, TCN2 TCN2 2

Transcription factor 3 TCF3 6

Transcription factor binding to IGHM enhancer TFE3 6

3

Transferrin TF 6

Transferrin receptor TFRC 6

Transforming growth factor, alpha TGFA 6

Transforming growth factor, beta 2 TGFB2 6

Transforming growth factor, beta induced TGFBI 6

Transforming growth factor, beta receptor 2 TGFBR2 6

Tuberous sclerosis 1 TSC1 6

Tuberous sclerosis 2 TSC2 6

Tubulm 3

Tumour necrosis factor (TNF) receptor TRAF1 4 associated factor 1

Tumour necrosis factor (TNF) receptor TRAF2 4 associated factor 2

Tumour necrosis factor (TNF) receptor TRAF3 4 associated factor 3

Tumour necrosis factor (TNF) receptor TRAF4 4 associated factor 4

Tumour necrosis factor (TNF) receptor TRAF5 4 associated factor 5

Tumour necrosis factor (TNF) receptor TRAF6 4 associated factor 6

Tumour necrosis factor alpha TNFA 4 Tumour necrosis factor alpha receptor TNFAR 4

Tumour necrosis factor beta TNFB 4

Tumour necrosis factor beta receptor TNFBR 4

Tumour protem p53 TP53,P53 6

Tumour protein p63 TP63 6

Tumour protein p73 TP73 6

Tumour protein, transiationally-controlled 1 TPT1 6

Tumour suppresssor gene DRA DRA 4

Ubiquitin 6

UbiqMtin activating enzyme, El 1

Ubiquitin B UBB 6

Ubiqmtin C UBC 6

Ubiquitin fiision degeneration I-like UFD1L 6

Ubiquitin protein ligase E3 A UBE3A 1

Undulin 1 COL14A1 3

Uridme monophosphate kinase UMPK 4

Uridine monophosphate synthetase UMPS 4

Uroporphyrinogen III synthase UROS 1

Vimentin VIM 4 v-myc avian myelocytomatosis viral oncogene MYC 6 homolog

Von Hippel-Lindau gene VHL 6

Werner syndrome helicase WRN 6

Wilms tumour gene 1 WT1 6

Wilms tumour gene 2 WT2 6

Wilms tumour gene 4 WT4 6

Winged helix nude WHN 6

Wiskott-Aldrich syndrome protein WASP, THC 4

Xanthine dehydrogenase XDH 1

X-ray repair gene XRCC9 6

Zinc finger protein HRX ALLl 4,

dass die mit FeMfunktion, Schädigung oder Erlαankung des Körpers als Folge einer Abweichung im Entwicklungsprozess in Zusammenhang stehenden Gene ausgewäMt sind aus:

Liste der Gene HUGO ProteM-

Gensymbol fMiktion

17-Ketosteroid reductase 5 2,4-Dienoyl CoA reductase DECR 1 3 beta Hydroxysteroid dehydrogenase 2 HSD3B2 1 3-Oxoacid CoA transferase OXCT 1 6-Pyruvoyltetrahydropterin synthase PTS 1 Absent in melanoma 1 gene AIM1 6 Acetoacetyl 2-CoA-tMolase ACAT2 1

Acetyl CoA acyltiansferase ACAA 1

Acetyl CoA carboxylase alpha ACACA 1

Acetylcholine receptor, cotmic, alpha AI CHRNAl 5

AcetylcholMe receptor, mcotmic, alpha A2 CHRNA2 5

AcetylcholMe receptor, nicotMic, alpha A3 CHRNA3 5

Acetylcholine receptor, nicotimc, alpha A4 CHRNA4 5

Acetylcholine receptor, nicotimc, alpha A5 CHRNA5 5

AcetylcholMe receptor, nicotMic, alpha A6 CHRNA6 5

AcetylcholMe receptor, mcotmic, alpha A7 CHRNA7 5

Acetylcholine receptor, mcotmic, beta 1 CHRNB1 5

Acetylcholine receptor, nicotimc, beta 2 CHRNB2 5

AcetylcholMe receptor, nicotimc, beta 3 CHRNB3 5

Acetylcholme receptor, nicotimc, beta 4 CHRNB4 5

Acetylcholine receptor, nicotMic, epsilon CHRNE 5

Acetylcholine receptor, mcotmic, gamma CHRNG 5

Acetylcholinesterase ACHE 1

AcMomatopsia 2 ACHM2 3

Acid phosphatase 2, lysosomal ACP2 1

AcrosM ACR 6

Actin, alpha, cardiac ACTC 3

Actin, alpha, skeletal ACTA1 3

Actin, alpha, smooth, aortic ACTA2 3

Activin 6

Activin A receptor, type 2B ACVR2B 6

Activin A receptor, type 2-like kinase 1 ACVRL1 6

Acyl CoA dehydrogenase, short chain ACADS

Acyl-CoA tMoesterase

ADAM (A disintegrin and metalloproteMase) 1 ADAMI

ADAM (A disintegrm and metalloproteinase) 10 ADAMIO

ADAM (A disintegrin and metalloproteinase) 11 ADAM11

ADAM (A disintegrin and metalloproteinase) 12 ADAM12

ADAM (A disintegrin and metalloproteinase) 13 ADAM13

ADAM (A disintegrin and metal oproteinase) 14 ADAM14

ADAM (A disintegrin and metalloproteMase) 15 ADAMI5

ADAM (A disintegrin and metalloproteMase) 16 ADAM16

ADAM (A disintegrin and metalloproteinase) 17 ADAM17

ADAM (A disMtegrM and metalloproteinase) 18 ADAM18

ADAM (A disintegdn and metalloproteinase) 19 ADAM19

ADAM (A disintegrin and metalloproteinase) 2 ADAM2

ADAM (A disintegrin and metalloproteinase) ADAM3A

3A

ADAM (A disMtegrM and metalloprotemase) ADAM3B

3B

ADAM (A disintegrin and metalloproteMase) 4 ADAM4

ADAM (A disMtegrM and metalloproteMase) 5 ADAM5

ADAM (A disintegrin and metalloproteMase) 6 ADAM6 ADAM (A disintegrin and metalloproteMase) 7 ADAM7 1

ADAM (A disintegrin and metalloproteinase) 8 ADAM8 1

ADAM (A dismtegrin and metalloproteMase) 9 ADAM9 1

AdducM, alpha ADD1 3

Adducin, beta ADD2 3

Adenomatous polyposis coli tumour supressor APC 6 gene

Adenosine deaminase ADA 1

Adenosine monophosphate deaminase AMPD 1

Adenosine receptor AI ADORA1 5

Adenosine receptor A2A ADORA2A 5

Adenosine receptor A2B ADORA2B 5

Adenosine receptor A3 ADORA3 5

Adenyl cyclase 5

Adenylate cyclase 1 ADCY1

Adenylate cyclase 2 ADCY2

Adenylate cyclase 3 ADCY3

Adenylate cyclase 4 ADCY4

Adenylate cyclase 5 ADCY5

Adenylate cyclase 6 ADCY6

Adenylate cyclase 7 ADCY7

Adenylate cyclase 8 ADCY8

Adenylate cyclase 9 ADCY9

Adenylosuccinate lyase ADSL

ADP-ribosyltransferase ADPRT

Adrenergic receptor, alphal ADRA1 5

Adrenergic receptor, alpha2 ADRA2 5

Adrenergic receptor, betal ADRB1 5

Adrenergic receptor, beta2 ADRB2 5

Adrenergic receptor, beta3 ADR83 5

AdrenocorticotropMc hormone (ACTH) ACTHR 6 receptor

Adrenoleukodystrophy gene ALD

Alamne-glyoxylate amMotiansferase AGXT

Albumin, ALB ALB 2

Aldehyde dehydrogenase 1 ALDH1

Aldehyde dehydrogenase 10 ALDH10

Aldehyde dehydrogehase 2 ALDH2

Aldehyde dehydrogenase 5 ALDH5

Aldehyde dehydrogenase 6 ALDH6

Aldehyde dehydrogenase 7 ALDH7

Aldolase A ALDOA

Aldolase B ALDOB

Aldolase C ALDOC

Aldosterone receptor MLR 6

AlkalMe phosphatase, liver/bone/kidney ALPL 2

Alkaptonuris gene AKU 6 Alkylglycerone phosphate synthase AGPS 1

Alpha 2 macroglobulm A2M 4 alpha tectorin TECTA 6 alpha thalassemia gene ATRX 5 alphal -Antitrypsm Pl 1 alpha2-Antiplasmin PLI 1 alpha- Actimn 2 ACTN2 6 alpha- Actimn 3 ACTN3 6 alpha-Amylase 1

Alpha-fetoprotein AFP 6 alpha-Galactosidase A GLA 1 alpha-ketoglutarate dehydrogenase 1 alpha-L-Iduromdase IDUA 1 alpha-Synuclein SNCA 5

Amelogemn AMELX 3

Aminomethyltransferase AMT 1

Aminopeptidase P XPNPEP2 1

AmpMregulin AREG 6

Amylo- 1 ,6-glucosidase AGL 1

Amyloid beta (A4) precursor protein-binding, APBB1 5

APBB1

Amyloid beta A4 precursor protein APP 5

Amyloid beta A4 precursor-like protem APLP 5

Androgen binding protein ABP 2

Androgen receptor AR 6

Angiopoietin 1 ANGPT1 6

Angiopoietin 2 ANGPT2 6

AngiotensM converting enzyme ACE,DCP1 1

Angiotensinogen AGT 1

Ankyrin 1 ANK1 3

Ankyrin 2 ANK2 3

Ankyrin 3 ANK3 3

Antidiuretic hormone receptor ADHR 2

Anti-Mullerian hormone AMH 6

Anti-Mullerian hormone type 2 receptor AMHR2 6

AntitMombin III AT3 1

AP-2, alpha TFAP2A 6

AP-2, beta TFAP2B 6

AP-2, gamma TFAP2C 6

Apaf-1 3

Apical proteM, xenopus laevis-like APXL 6

Apolipoprotein A 4 APOA4 2

Apolipoprotein A I APOA1 2

ApolipoproteM A II APOA2 2

Apolipoprotem B APOB 2

ApolipoproteM Cl APOC1 2

ApoiipoproteM C2 APOC2 2 Apolipoprotem C3 APOC3 2

Apolipoprotein D APOD 2

ApolipoproteM E APOE 2

ApolipoproteM H APOH 2

Apopam CPP32 6

Apoptosis antigen 1 APT1 4

Apoptosis antigen ligand 1 APT1LG1 4

Apoptosis-Mducing factor AIF 4

Apurimc endonuclease APE 1

Archaete-scute homolog 1 ASH1 6

Archaete-scute homolog 2 ASH2 6

Arginosuccmate synthetase ASS 1

Arrestin SAG 3

Aryi hydrocarbon receptor AHR 2

Aryi hydrocarbon receptor nuclear translocator ARNT 2

Arylsulfatase A ARSA 1

Arylsulfatase B ARSB 1

Arylsulfatase C ARSC1 1

Arylsulfatase D ARSD 1

Arylsulfatase E ARSE 1

Arylsulfatase F ARSF 1

Aspartate transaminase 2

Aspartate tianscarbamoylase 1

Aspartoacylase ASPA 1

AspartylglucosamMidase AGA 1

Astrotactin ASTN 6

Ataxia telangiectasia complementation group D ATD, ATDC 6

Ataxia telangiectasia gene, AT ATM 6

Ataxin 1 SCA1 6

Ataxin 2 SCA2 6

Ataxin 3 MJD 6

ATP-binding cassette transporter 7 ABC7 4

Atiial natiiuretic peptide ANP 6

Atiial natiiuretic peptide receptor A NPR1 6

Atiial natriuretic peptide receptor B NPR2 6

Atiial natriuretic peptide receptor C NPR3 6

AtropMn 1 DRPLA 6

Affractin

Autoimmune regulator, AIRE AIRE

Azoospermia factor 1 AZF1 6

Bagpipe homeobox, drosopMla homolog of, 1 BAPX1 6

B-cell CLL/lymphoma 1 BCL1 4

B-cell CLL/lymphoma 10 BCL10 4

B-cell CLL/lymphoma 3 BCL3 4

B-cell CLL/lymphoma 4 BCL4 4

B-cell CLL/lymphoma 5 BCL5 4

B-cell CLL/lymphoma 6 BCL6 4 B-cell CLL/lymphoma 7 BCL7 4

B-cell CLL/lymphoma 8 BCL8 4

B-cell CLL/lymphoma 9 BCL9 4

BCL2-associated X proteM BAX 6

BCL2-related protem AI BCL2A1 6

Beckwith-Wiedemann region 1 A BWR1A 6

BestrophM VMD2 2 beta 2 MicroglobulM B2M 4 beta-EndorpMn receptor 5 beta-Glucuromdase GUSB beta-N-Acetylhexosamimdase, A beta-N-Acetylhexosammidase, B

Bilirubin UDP-glucuronosyltransferase

Bleomycin hydrolase BLMH

Bloom syndrome protein BLM 6

Blue cone pigment BCP 3

Bone morphogenetic protein, BMP1 BMP1 6

Bone morphogenetic protein, BMP2 BMP2 6

Bone morphogenetic protein, BMP3 BMP3 6

Bone morphogenetic protem, BMP4 BMP4 6

Bone morphogenetic protein, BMP5 BMP5 6

Bone morphogenetic protein, BMP6 BMP6 6

Bone morphogenetic protein, BMP7 BMP7 6

Bone morphogenetic protein, BMP8 BMP8 6

Brain derived neurotrophic factor BDNF 6

Brain derived neurotrophic factor (BDNF) BDNFR 6 receptor

Branched chain aminotiansferase 1, cytosolic BCAT1 1

Branched chain ammotiansferase 2, BCAT2 1 mitochondrial

BRCA1 -associated RING domain gene 1 BARD1 6

Breakpoint cluster region BCR 6

Breast cancer 1 BRCA1 6

Breast cancer 2 BRCA2 6

Breast cancer, ductal, 1 BRCD1 6

Breast cancer, ducta, 2 BRCD2 6

Bruton agammaglobulinaemia tyrosine kinase BTK 6

Butyrylcholinesterase BCHE 1

C3 convertase 1

Ca(2+) transportmg ATPase, fast twitch ATP2A1 2

Ca(2+) transportmg ATPase, slow twitch ATP2A2 2

Cadherin E CDHI 6

Cadherin EP 6

Cadherin N CDH2 6

Cadherin P CDH3 6

CalbMdin 1 CALB1 6

Calbindm D9K CALB3 6 Calcium channel, voltage-dependent, Alpha 1 F CACNA1F subumt

Calcium channel, voltage-dependent, Alpha- CACNA1B

1B (CACNL1A5)

Calcium channel, voltage-dependent, Alpha- CACNA1C

1 C

Calcium channel, voltage-dependent, Alpha- CACNA1D

1 D

Calcium channel, voltage-dependent, Alpha- CACNA1E

I E (CACNL1 A6)

Calcium channel, voltage-dependent, Alpha- CACNA2

2/delta

Calcium channel, voltage-dependent, Beta 1 CACNB1 5

Calcium channel, voltage-dependent, Beta 3 CACNB3 5

Calcium channel, voltage-dependent, L type, CACNA1S 5 alpha IS subumt

Calcium channel, voltage-dependent, CACNG2 5

Neuronal, Gamma

Calcium channel, voltage-dependent, P/Q CACNA1A 5 type, alpha 1A subimit

Calcium Channel, voltage-dependent, T-type 5

Calcium sensing receptor CASR 2

Calmodulin 1 CALM1 6

Calmodulin 2 CALM2 6

Calmodulin 3 CALM3 6

Calmodulin dependent Idnase 2

Calmodulin-dependant protein kinase II CAMK2A 6

Calnexin CANX 6

Calpain CAPN,CAPN3 1

Canalicular multispecific orgamc amon CMOAT 2 transporter

Carbamoylphosphate synthetase 1 CPS1

Carbamoylphosphate synthetase 2 CPS2

Carbomc anhydrase 3 CA3

Carbomc anhydrase 4 CA4

Carbomc anhydrase, alpha CA1

Carbomc anhydrase, beta CA2

Cardiac-specific homeobox, CSX CSX

Camitine acetyltiansferase CRAT

Camitine acylcaπtitine translocase CACT

Camitine tiansporter protein CDSP,SCD 2

Cartilage oligomeric matiix proteM COMP, EDM1, 5

PSACH

Cartilage-hair hypoplasia gene CHH 5

Caspase 1 CASP1 6

Caspase 10 CASP10 6

Caspase 2 CASP2 6 Caspase 3 CASP3 6

Caspase 4 CASP4 6

Caspase 5 CASP5 6

Caspase 6 CASP6 6

Caspase 7 CASP7 6

Caspase 8 CASP8 6

Caspase 9 CASP9 6

Catechol-o-methyltransferase COMT 1

CatenM, alpha CTNNA1 6

Catemn, beta CTNNB1 6

Catemn, gamma 6

Cathepsin K CTSK 1

Caveolin 3 CAV3 1

CD1 CD1 4

CD44 CD44 4

Cdc 25 phosphatase 6

Cdc2 CDC2 6

CDX1 6

CEA 6

Cell adhesion molecule, intercellular, ICAM ICAM1 6

Cell adhesion molecule, leukocyte-endothelial, LECAMl 6

LECAM (CD62)

Cell adhesion molecule, liver, LCAM LCA 6

Cell adhesion molecule, neural, NCAMl NCAMl 6

Cell adhesion molecule, neural, NCAM2 NCAM2 6

Cell adhesion molecule, platelet-endothelial, PECAM 6

PECAM

Cell adhesion molecule, vascular, VCAM VCAMl 6

Cellubrevin CEB 5 c-erbBl ERBB1 6 c-erbB2 ERBB2 6 c-erbB3 ERBB3 6 c-erbB4 ERBB4 6

Ceroid lipofuscinosis neuronal 2 CLN2 5

Ceroid lipofuscinosis neuronal 3 CLN3 5

Ceroid lipofuscinosis neuronal 4 CLN4 5

Ceroid lipofuscinosis neuronal 5 CLN5 5

Ceroid lipofuscinosis neuronal 6 CLN6 5

Chediak-HigasM syndrome 1 gene CHSl 2

Chemokine MCAF MCAF 4

Chemokine receptor CCR2 CCR2 4

Chemokine receptor CCR3 CCR3 4

Chemokine receptor CCR5 CCR5 4

ChemokMe receptor CXCRI CXCRI 4

Chemokine receptor CXCR2 CXCR2 4

Chemokine receptor CXCR4 CXCR4 4

CMoride channel 5 CLCN5 3 Cholestasis, progressive familial intiahepatic 1 FIC1 6 gene

Cholesterol ester transfer proteM CETP 2

Choline acetyltransferase CHAT 1

Choroideremia gene CHM 3

CMomogranin A CHGA 6

Ciliary neurotropMc factor (CNTF) CNTF 6

Ciliary neurotropMc factor (CNTF) receptor CNTFR 6 c-kit receptor tyrosme kinase 6

ClatMin 2

Cleavage signal-1 protein CS1 6

Cleft palate gene CPX 6

Clusterin CLU 6

CoA tiansferase 1

Cochlin COCH 4

Cockayne syndrome gene, CKNI CKNI 6

Collagen I alpha 1 COL1A1 3

Collagen I alpha 2 COL1A2 8

Collagen II alpha 1 COL2A1 3

Collagen III alpha 1 COL3A1 3

Collagen IV alpha 1 COL4A1 3

Collagen IV alpha 2 COL4A2 3

Collagen IV alpha 3 COL4A3 3

Collagen IV alpha 4 COL4A4 3

Collagen IV alpha 5 COL4A5 3

Collagen IV alpha 6 COL4A6 3

Collagen IX alpha 2 COL9A2, EDM2 3

Collagen IX alpha 3 COL9A3 3

Collagen receptor COLR 3

Collagen V alpha 1 COL5A1 3

Collagen V alpha 2 COL5A2 3

Collagen VI alpha 1 COL6A1 3

Collagen VI alpha 2 COL6A2 3

Collagen VI alpha 3 COL6A3 3

Collagen VII alpha 1 COL7A1 3

Collagen X alpha 1 COL10A1 3

Collagen X alpha 1 COLI 1 AI 3

Collagen XI alpha 2 COL11A2 3

Collagen XVII alpha l COL17A1 3

Coliagemc-like tail subimit of asymmetric COLQ 1 acetylcholinesterase

CollapsM 6

Colony-stimulatMg factor 1 CSF1 6

Colony-stimulatmg factor 1 receptor CSF1R 6

Colony-stimulatMg factor 2 CSF2 6

Colony-stimulatmg factor 2 alpha receptor CSF2RA 6

Colony-stimulating factor 2 beta receptor CSF2RB 6 Colony-stimulatmg factor 3 CSF3 6

Colony-stimulatmg factor 3 receptor CSF3R 6

Complex V MTATP6 1

Cone-rod homeobox-containmg gene CRX 6

Contactin CNTN1 6

Core-bindMg factor, alpha 1 CBFA1 6

Core-bindmg factor, alpha 2 CBFA2 6

Core-bindmg factor, beta CBFB 6

Corticotiopbin-releasmg hormone CRH 2

CorticotropMn-releasMg hormone receptor CRHR1 2

Creatine kinase - B and m CKBE 1

Creb binding protem CREBBP 6

CryptocMome 1 CRY1 3

CryptocMome 2 CRY2 3

CrystallM, alpha A CRYAA 3

Crystallm, alpha B CRYAB 3

CrystallM, beta B2 CRYBB2 3

Crystallm, gamma A CRYGA 3 c-src tyrosine Idnase CSK 6

Cu2+ transporting ATPase alpha polypeptide ATP7A 1

Cu2+ tiansportMg ATPase beta polypeptide ATP7B 1

Cubilin CUBN 2

Cyclic AMP response element binding protein CREB 6

Cyclic AMP response element modulator CREM 6

Cyclic AMP-dependent protein kinase PKA 1

Cyclic nucleotide gated channel alpha 1, CNGA1 5

CNGA1

Cyclic nucleotide gated channel alpha 3, CNGA3 5

CNGA3

Cyclic nucleotide phosphodiesterase IB PDE1B

Cyclic nucleotide phosphodiesterase IBl PDE1B1

Cyclic nucleotide phosphodiesterase 2A3 PDE2A3

Cyclic nucleotide phosphodiesterase 3 A PDE3A

Cyclic nucleotide phosphodiesterase 3B PDE3B

Cyclic nucleotide phosphodiesterase 4A PDE4A

Cyclic nucleotide phosphodiesterase 4C PDE4C

Cyclic nucleotide phosphodiesterase 5A PDE5A

Cyclic nucleotide phosphodiesterase 6A PDE6A

Cyclic nucleotide phosphodiesterase 6B PDE6B

Cyclic nucleotide phosphodiesterase 7 PDE7

Cyclic nucleotide phosphodiesterase 8 PDE8

Cyclic nucleotide phosphodiesterase 9A PDE9A

Cyclin A CCNA 6

Cyclin B CCNB 6

Cyclm C CCNC 6

Cyclin D CCND1 6

Cyclin E CCNE 6 Cyctin F CCNF 6

CyclM-dependent kMase 1 CDK1 6

CyclM-dependent kMase 10 CDK10 6

CyclM-dependent kinase 2 CDK2 . 6

CyclM-dependent kinase 3 CDK3 6

Cyclin-dependent Idnase 4 CDK4 6

Cyclin-dependent kMase 5 CDK5 6

Cyclin-dependent Idnase 6 CDK6 6

Cyclin-dependent Idnase 7 CDK7 6

Cyclin-dependent Idnase 8 CDK8 6

Cyclin-dependent Idnase 9 CDK9 6

Cyclin-dependent kinase MMbitor 1A (P21, CDKN1A 6

CIPI)

Cyclin-dependent kinase inMbitor IB (P27, CDKN1B 6

KIP1)

Cyclin-dependent Idnase inMbitor IC (P57, CDKN1C 6

KIP2)

Cyclin-dependent kinase inMbitor 2A (pl6) CDKN2A 6

Cyclm-dependent kinase inMbitor 3 CDKN3 6

Cyclooxygenase 1 COX1

Cyclooxygenase 2 COX2

CYP11A1 CYP11A1

CYP11B1 CYP11B1

CYP11B2 CYP11B2

CYP17 CYP17

CYP19 CYP19

CYPIAI CYPIAI

CYP1A2 CYP1A2

CYP1B1 CYP1B1

CYP21 CYP21

CYP24 CYP24

CYP27 CYP27

CYP27B1 PDDR

CYP2A1 CYP2A1

CYP2A13 CYP2A13

CYP2A3 CYP2A3

CYP2A6V2 CYP2A6V2

CYP2A7 CYP2A7

CYP2B6 CYP2B6

CYP2C18 CYP2C18

CYP2C19 CYP2C19

CYP2C8 CYP2C8

CYP2C9 CYP2C9

CYP2D6 CYP2D6

CYP2E1 CYP2E1

CYP2F1 CYP2F1

CYP2J2 CYP2J2 CYP3A3 CYP3N3

CYP3A4 CYP3N4

CYP3A5 CYP3N5

CYP3A7 CYP3N7

CYP4A11 CYP4N11

CYP4B1 CYP4B1

CYP4F2 CYP4F2

CYP4F3 CYP4F3

CYP51 CYP51

CYP5A1 CYP5N1

CYP7A CYP7N

CYP8 CYP8

CystatMonase CTH

CystatMone beta synthase CBS

Cystic fibrosis tiansmembrane conductance CFTR 5 regulator, CFTR

Cystinosin CTΝS 2

Cytidine deaminase CDA 1

CytocMome b-5 CYB5 1

DAXl nuclear receptor DAXl 4

Deafhess autosomal dominant 5 DFΝA5 5

Deafhess dystoma peptide DDP 5

Defender against cell death 1 DADl 6

Deleted in azospermia DAZ 6

Deleted M colorectal carcinoma DCC 6

Deleted m malignant brain tumours 1 DMBTl 6

Delta aminolevulMate dehydratase ALAD 1

Delta(4)-3 -oxosteroid 5-beta-reductase 1

Delta-7-dehydrocholesterol reductase DHCR7 1

Dentin sialophosphoproteM DSPP 6

Deoxyuridine tiiphosphatase; dUTPase 1

Desert hedgehog, dhh 6

DHEN sulfotiansferase STD 1

Diaphanous 1 DIAPH1 5

Diaphanous 2 DIAPH2 5

DiastiopMc dysplasia sulfate tiansporter DTD 2

Dihydrolipoamide branched chain tiansacylase DBT 5

Dihydrolipoamide dehydrogenase DLD 5

Dihydrolipoyl dehydrogenase 2 PDHA 1

Dihydrolipoyl tiansacetylase PDHA 1

Dihydroorotase 1

Dihydroxyacetonephosphate acyltiansferase DHAPAT 1

Disrupted meiotic cDΝN 1, homolog DMC1 6

Distal-less homeobox 1 DLX1 6

Distal-less homeobox 2 DLX2 6

Distal-less homeobox 3 DLX3 6

Distal-less homeobox 4 DLX4 6 Distal-less homeobox 5 DLX5 6

Distal-less homeobox 6 DLX6 6

DNA damage bindmg protein, DDBI DDBI 3

DNA damage bindmg proteM, DDB2 DDB2 3

DNA directed polymerase, alpha POLA

DNA glycosylases

DNA helicases

DNA Ligase 1 LIG1

DNA methyltiansferase DNMT

DNA polymerase 1

DNA polymerase 2

DNA polymerase 3

DNA primase

DNA-damage-inducible transcript 3 DDIT3

DNA-dependant RNA polymerase

DOPA decarboxylase DDC

Doublecortin, DCX DCX 3

Duffy blood group FY 2

Dynamin DNM1 6

Dynein 6

Dyskerin DKC1 3

Dystoma 1 DYT1 3

Dystoma 3 DYT3 3

Dystoma 6 DYT6 3

Dystonia 7 DYT7 3

Dystoma 9 CSE 3

DystropMa myotomca DM, DMPK 1

DystropMa myotomca, atypical DM2 1

DystropMn DMD 3

DystiopMn-associated glycoprotem 35kD, SGCD 3

SCGD

DystiopMn-associated glycoprotein 35kD, SGCG 3

SGSG

DystiopMn-associated glycoproteM 43kD SGCB 3

DystiopMn-associated glycoproteM 5OkD SGCA 3

E74-like factor 1, ELFI ELFI 6

EB1 6

Ectodermal Dysplasia 1 gene EDI 3

Electron-transfering-flavoprotein alpha ETFA 2

Electron-transferMg-flavoproteinbeta ETFB 2

Electron-tiansferring flavoprotein ETFDH 1 dehydrogenase

Empty spiracies (drosopMla) homologue 1 EMX1 6

Empty spiracies (drosopMla) homologue 2 EMX2 6

Endobrevin VAMP8 5

Endocardial fibroelastosis 2 gene EFE2 3

Endometrial bleedMg-associated factor EBAF 6 Endothelm 1 EDN1 5

EndothelM 2 EDN2 5

Endothelin 3 EDN3 5

EndothelM converting enzyme ECE1 5

Endothelin receptor type A EDNRA 5

Endothelin receptor type B EDNRB 5

Engrailed-1 ENI 6

Engrailed-2 EN2 6

Enolase ENO1 1

Enoyl CoA isomerase 1

Enterokinase PRSS7.ENTK 1

EpMin receptor tyrosine kinase A EPHA 6

EpMin receptor tyrosine Idnase B EPHB 6

EpMin-A EFNA 6

EpMin-B EFNB 6

Epidermal growth factor EGF 6

Epidermal growth factor receptor EGFR 6

Epilepsy, bemgn neonatal 4 gene ICCA 1

Epilepsy, female restricted EFMR 1

Epilepsy, progressive myoclomc 2 gene EPM2A 1

ErytMocyte membrane protein band 4.1 EPB41 3

ErytMocyte membrane protein band 4.2 EPB42 3

ErytMocyte membrane protein band 7.2 EPB72 3

ErytMoid kruppel-like factor EKLF 6

Erytiiropoietin EPO 4

ErytMopoietin receptor EPOR 4

Estrogen receptor ESR 6

Eukaryotic Mitiation translation factor EIF4E 6

EWS RNA-binding protein EWSR1 6

Excision repair complementation group 1 ERCC1 protein

Excision repair complementation group 2 ERCC2 protein

Excision repair complementation group 2 ERCC3 proteM

Excision repair complementation group 4 ERCC4 proteM

Excision repair complementation group 6 ERCC6 protein

Exostosin 1 EXT1 3

Exostosin 2 EXT2 3

Exostosin 3 EXT3 3

Eyes absent 1 EYA1 6

Eyes absent 2 EYA2 6

Eyes absent 3 EYA3 6

Faciogemtal dyspiasia FGD1, FGDY 2

Factor 1 (No. one) FI 4 Factor B, properdm 4 Factor D 4 Factor H HF1 4 Factor I (letter 1) IF 4 Factor III F3 4 Factor IX F9 4 Factor V F5 4 Factor VII F7 4 Factor VIII F8 4

Factor X F10 4

Factor XI Fl l 4

Factor XII F12 4

Factor XIII A & B F13A & F13B 4

Fancom anemia, complementation group A FANCA 2

Fancom anemia, complementation group C FANCC 2

Fancom anemia, complementation group D FANCD 2

Fc fragment of IgG, Mgh affimty IA, receptor for FCGR1A 6

Fc fragment of IgG, low affimty Ila, receptor for FCGR2A 6

(CD32)

Fc fragment of IgG, low affimty lila, receptor for FCGR3A

(CD 16)

Fc receptor 4

Fertilin protein FTNB 6

Fibrillin 1 FBN1 6

Fibrillin 2 FBN2 6

Fibroblast growth factor FGF1 6

Fibroblast growth factor receptor 1 FGFR1 6

Fibroblast growth factor receptor 2 FGFR2 6

Fibroblast growth factor receptor 3 FGFR3 6

Fibronectin precursor FN1 6

Flavin-contaimng monooxygenase 1 FMO1 1

Flavin-contaimng monooxygenase 2 FMO2 1

Flavin-contaimng monooxygenase 3 FMO3 1

Flavin-contaimng monooxygenase 4 FMO4 1

Flightless-II, DrosopMla homolog of FLII 6

Folic acid receptor FOLR 6

Follicle stimulating hormone receptor FSHR,ODGl 6

Follicle stimulating hormone, FSH FSHB 6

FoUicular lymphoma variant tianslocation 1 FVT1 4

Follistatin 6

Forkhead rhabdomyosarcoma gene FKHR 6

Forkhead tianscription factor 10 FKHL10 6

Forkhead tianscription factor 14 FKHL14 6

Forkhead tianscription factor 7 FKHL7 6

Formimmotiansferase 1

Fragile site, folic acid type, rare, fra(X) A FRAXA 5 Fragile site, folic acid type, rare, fra(X) E FRAXE 5

Fragile site, folic acid type, rare, fra(X) F FRAXF 5

Frataxin FRDA 6

Fringe secreted proteM, lunatic LFNG 6

Fringe secreted proteM, mamc MFNG 6

Fringe secreted proteM, radical RFNG 6

Fructose- 1 ,6-diphosphatase FBP1 1

Fucosyltransferase 6 FUT6 2

Fukuyama type congemtal muscular dystrophy FCMD 6

Fumarase FH 1

Fumarylacetoacetase FAH 1

G/T mismatch binding protein GTBP,MSH6 6

GABA receptor, alpha 1 GABRA1 5

GABA receptor, alpha 2 GABRA2 5

GABA receptor, alpha 3 GABRA3 5

GABA receptor, alpha 4 GABRA4 5

GABA receptor, alpha 5 GABRA5 5

GABA receptor, alpha 6 GABRA6 5

GABA receptor, beta 1 GABRB1 5

GABA receptor, beta 2 GABRB2 5

GABA receptor, beta 3 GABRB3 5

GABA receptor, gamma 1 GABRG1 5

GABA receptor, gamma 2 GABRG2 5

GABA receptor, gamma 3 GABRG3 5

GABA transaminase ABAT

Gadd45 (growth arrest & DNA-damage-inducible protein)

Galactocerebrosidase GALC

Galactokinase GALK1

Galactose 1 -phosphate uridyl-tiansferase GALT

Galactosyltransferase 1 GT1 6

Galactosyltransferase, alpha 1,3 GGTA1 6

Galactosyltransferase, beta 3 B3GALT 6

Galamn GAL 5

Galamn receptor GALNR1 5

Gamma-glutamyl carboxylase GGCX 2

Gap junction protein alpha 1 GJA1 2

Gap junction protein alpha 3 GJA3 2

Gap junction protein alpha 8 GJA8 2

Gap junction protein beta 1 GJB1 2

Gap junction protein beta 2 GJB2 2

Gap junction protem beta 3 GJB3 2

Gastiic Intrinsic factor, GIF GIF 1

Gastrin GAS 6

Gastrin releasmg peptide GRP 2

Gastrulation bra homeobox 2 GBX2 6

GDP dissociation MMbitor I GDI 1 6

Gelsolm GSN 6 Gemospasm 1 GSM1 6

Gephyrin 5

Glial-cell derived neurotiopMc factor (GDNF) 5 receptor

Glial-cell derived neurotiopMc factor, GDNF GDNF 5

Glioma cMoride ion channel, GCC 6

Glucagon receptor GCGR 6

Glucagon-like peptide receptor 1 GLPLR 6

Glucocorticoid receptor GRL 6

Glucose-6-phosphatase translocase G6PT1

Glucosidase, acid alpha GAA

Glucosidase, acid beta GBA

Glutamate decarboxylase, GAD GAD1

Glutamate-cyste e ligase GLCLC

GlutatMone GSH 2

GlutatMone peroxidase, GPX1 GPX1

GlutatMone peroxidase, GPX2 GPX2

GlutatMone reductase, GSR GSR

GlutatMone S-transferase mu 1, GSTMI GSTMI

GlutatMone S-transferase mu 4, GSTM4

GlutatMone S-transferase theta 1, GSTT1 GSTTI

GlutatMone S-transferase theta 2, GSTT2

GlutatMone S-transferase, GSTP1 GSTP1

GlutatMone S-transferase, GSTZI GSTZI

GlutatMone synthetase GSS

Glyceraldehyde-3-phosphate dehydrogenase, GAPDH

GAPDH

Glycerol kinase GK

GlycMamide ribonucleotide (GAR) GART tiansformylase

Glycine dehydrogenase GLDC

Glycme receptor, alpha GLRA2

Glycine receptor, beta

Glycogen brandhing enzyme GBE1

Glycogen phosphorylase PYGL

Glycogen synthase 1 (muscle) GLYS1

Glycogen synthase 2 (liver) GYS2

Glycosyltiansferases, ABO blood group ABO

Glypican 3 GPC3, SDYS 6

GM2 ganglioside activator protein, GM2A GM2A 1

Gonadotrop releasmg hormone GNRH 6

GonadotropM releasing hormone receptor GNRHR 6

Goosecoid GSC 6

Green cone pigment GCP 3

Growth arrest-specific homeobox GAX 6

Growth factor receptor-bound proteM 2 GRB2 6

Growth hormone 1 GH1 6 Growth hormone 2 (placental) GH2 6

Growth hormone receptor GHR 6

Growth hormone releasing hormone (GHRH) GHRH 6

Growth hormone releasmg hormone receptor GHRHR 6

Growth/differentiation factor 5 GDF5 6

Growth-regulated protein precursor, GRO GRO 4

GTP cylcohydrolase 1 GCH1 6

GTPase-activating protein, GAP RASA1 6

Gua dinoacetate N-methyltransferase GAMT 1

Guamne nucleotide-bMding protein, alpha GNA01 5 activating activity polypeptide, GNAO

Guamne nucleotide-binding protein, alpha GNA11 5 inMbiting activity polypeptide 1, GNA11

Guamne nucleotide-bindMg protem, alpha GNA12 5 inMbiting activity polypeptide 2, GNA12

Guamne nucleotide-bindMg protem, alpha GNA13 5 inMbiting activity polypeptide 3, GNA 13

Guamne nucleotide-binding protein, alpha GNAS1 5 stimulating activity polypeptide, GNAS1

Guamne nucleotide-binding protein, alpha GNAS2 5 stimulating activity polypeptide, GNAS2

Guamne nucleotide-binding protein, alpha GNAS3 5 stimulating activity polypeptide, GNAS3

Guamne nucleotide-bmdmg protem, alpha GNAS4 5 stimulating activity polypeptide, GNAS4

Guamne nucleotide-binding protein, alpha GNATI 5 tiansducmg activity polypeptide, GNATI

Guanine nucleotide-binding protein, alpha GNAT2 5 transducing activity polypeptide, GNAT2

Guamne nucleotide-binding protein, beta GNB3 5 polypeptide 3

Guamne nucleotide-bMding protein, gamma GNG5 5 polypeptide 5

Guamne nucleotide-binding protein, q GNAQ 5 polypeptide

Guanylate cyclase 2D, membrane (retina- GUCY2D 1 specific)

Guanylate cyclase activator 1A (retma) GUCA1A 1

Guanylate kinase 1

Gustducin, alpha (taste-specific G proteM) GDCA 5

Haeme regulated inMbitor Idnase 1

Haemoglobm epsilon 2

Hairless HR 6

Haptoglobin, alpha 1 HPA1 4

Haptoglobm, alpha 2 HPA2 4

Haptoglobm, beta HPB 4

Heat shock proteM, HSP60 4 Heat shock proteM, HSP70 4

Heat shock protem, HSP90 4

Heat shock protein, HSPA1 4

Heat shock protein, HSPA2 4

Heia tumor suppression gene HTS1 6

HemocMomatosis HFE 2

Hemopexin HPX 4

Heparan sulfamidase 1

Heparin binding epidermal growth factor HBEGF 6

Hepatic nuclear factor-3-beta HNF3B 1

Hepatic nuclear factor-4-alpha HNF4A 1

Hepatitis B virus Mtegration site 1 HVBS1 4

Hepatitis B virus Mtegration site 2 HVBS6 4

Hepatocyte growth factor HGF 6

Hexosamimdase A HEXA,TSD 1

Hexosamimdase B HEXB 1

High mobility group proteM 1 HMG1 6

High mobility group proteM 2 HMG2 6

High mobility group protein C HMGIC 6

High mobility group protein Y HMGIY 6

Histone family Hl Hl 6

Histone family H2 H2 6

Histone family H3 H3 6

Histone family H4 H4 6

HLA-B associated tianscript 1 BAT1 4

HLH tianscription factor HAND1 HAND1 6

HLH transcription factor HAND2 HAND2 6

HMG-CoA lyase HMGCL 1

HMG-CoA reductase HMGCR 1

HMG-CoA synthase HMGCS2 1

Holocarboxylase synthetase HLCS 1

Holoprosencephaly 1 HPE1 6

Holoprosencephaly 2 HPE2 6

Holoprosencephaly 3 HPE3 6

Holoprosencephaly 4 HPE4 6

Homeobox (HOX) gene AI HOXA1 6

Homeobox (HOX) gene A10 HOXA10 6

Homeobox (HOX) gene AI 1 HOXA11 6

Homeobox (HOX) gene A12 HOXA12 6

Homeobox (HOX) gene AI 3 HOXA13 6

Homeobox (HOX) gene A2 HOXA2 6

Homeobox (HOX) gene A3 HOXA3 6

Homeobox (HOX) gene A4 HOXA4 6

Homeobox (HOX) gene A5 HOXA5 6

Homeobox (HOX) gene A6 HOXA6 6

Homeobox (HOX) gene A7 HOXA7 6

Homeobox (HOX) gene A8 HOXA8 6 Homeobox (HOX) gene A9 HOXA9 6

Homeobox (HOX) gene Bl HOXB1 6

Homeobox (HOX) gene B2 HOXB2 6

Homeobox (HOX) gene B3 HOXB3 6

Homeobox (HOX) gene B4 HOXB4 6

Homeobox (HOX) gene B5 HOXB5 6

Homeobox (HOX) gene B6 HOXB6 6

Homeobox (HOX) gene B7 HOXB7 6

Homeobox (HOX) gene B8 HOXB8 6

Homeobox (HOX) gene B9 HOXB9 6

Homeobox (HOX) gene C13 HOXC13 6

Homeobox (HOX) gene C4 HOXC4 6

Homeobox (HOX) gene C8 HOXC8 6

Homeobox (HOX) gene C9 HOXC9 6

Homeobox (HOX) gene Dl HOXD1 6

Homeobox (HOX) gene D10 HOXD10 6

Homeobox (HOX) gene D12 HOXD12 6

Homeobox (HOX) gene D13 HOXD13 6

Homeobox (HOX) gene D3 HOXD3 6

Homeobox (HOX) gene D4 HOXD4 6

Homeobox (HOX) gene D8 HOXD8 6

Homeobox (HOX) gene D9 HOXD9 6

Homeobox 11 HOX11 6

Homeobox HB24 HLX1 6

Homeobox HB9 HLXB9 6

Homeobox, PROX1 PROX1 6

HSSB, replication protein 1

Human atonal gene ATOH1 6

Human choriomc gonadtropMn, hCG CG 6

Human placental factogen CSH1 6

Huntingtin HD 2

HypoxantMne-guamne HPRT 1 phosphoribosyltransferase, HGPRT

Hypoxia Mducible factor 1 HIF1A 1

Hypoxia inducible factor 2 1

IC7 A and B 4

Iduronate 2 sulphatase IDS 1

Ikaros gene IKAROS 6

Immunoglobulin alpha (IgA) IGHA 4

Immunoglobulin delta (IgD) IGHD 4

Immunoglobulin E (Ig ) reponsivigness gene IGER 4

ImmunoglobulM E (IgE) serum concentration IGES 4 regulator gene

ImmunoglobulM epsilon (IgE) IGHE 4

Immunoglobulm gamma (IgG) 2 IGHG2 4

ImmunoglobulM heavy mu cham IGHM 4

Mimunoglobulin J polypeptide IGJ 4 ImmunoglobulM kappa constant region IGKC 4

ImmunoglobulM kappa variable region IGKV 4

Indian hedgehog, ihh IHH 6 MbM, alpha INHA 6

InMbin, beta A INHBA 6

InMbin, beta B INHBB 6

InMbin, beta C INHBC 6

Inosine monophosphate dehydrogenase, 1

IMPDH

Inositol 1,4,5-triphosphate receptor 1 ITPR1 6

Inositol 1,4,5-triphosphate receptor 3 ITPR3 6

InsulM INS 6

Msulin promotor factor 1 IPF1 6

Insulin receptor INSR 6

Insulin receptor Substrate- 1 IRS1 6

Msulin-like growth factor 1 IGF1 6

Insulin-like growth factor 1 receptor IGF1R 6

Insulin-like growth factor 2 IGF2 6

Msulin-like growth factor 2 receptor IGF2R 6

Integrin beta 1 ITGB1 6

Integrin beta 2 ITGB2 6

Integrin beta 3 ITGB3 6

Integrin beta 4 ITGB4 6

Integrin beta 5 ITGB5 6

Integrin beta 6 ITGB6 6

Integrin beta 7 ITGB7 6

Integrin, alpha 1 ITGA1 6

Integrin, alpha 2 ITGA2 6

Integrin, alpha 3 ITGA3 6

Integrin, alpha 4 ITGA4 6

Mtegrin, alpha 5 ITGA5 6

Integrin, alpha 6 ITGA6 6

Integdn, alpha 7 ITGA7 6

Integrin, alpha 8 ITGA8 6

Integrin, alpha 9 ITGA9 6

Integrin, alpha M ITGAM 6

Integrin, alpha X ITGAX 6

Inter-alpha-tiypsin inMbitor, IATI 1

Intercellular adhesion molecule 1 ICAM1 4

Intercellular adhesion molecule 2 ICAM2 4

Mtercellular adhesion molecule 3 ICAM3 4

Interferon alpha IFNA1 4

Mterferon beta IFNB 4

Mterferon gamma IFNG 4

Interferon gamma receptor 1 IFNGR1 4

Mterferon gamma receptor 2 IFNGR2 4

Interferon regulatory factor 1 IRF1 4 Interferon regulatory factor 4 IRF4 4 MterleukinQL) 1 receptor IL1R 4 MterleukinQL) 1, alpha IL1A 4 MterieukMQL) 1, beta IL1B 4 InterleukM(IL) 10 IL10 4 MterleukinQL) 10 receptor IL10R 4 MterleukinQL) 11 IL11 4 InterleukinQL) 11 receptor IL11R 4 MterleukinQL) 12 IL12 4 InterleukinQL) 12 receptor, beta 1 IL12RB1 4 MterleuldnQL) 13 IL13 4 MterleukinQL) 13 receptor IL13R 4

MterleuldnQL) 2 IL2 4

MterleukinQL) 2 receptor, alpha IL2RA 4

InterleukinQL) 2 receptor, gamma IL2RG 4

MterleukM(IL) 8 IL3 4

MterleukinQL) 3 receptor IL3R 4

Mterleukin(IL) 4 IL4 4

InterleukinQL) 4 receptor IL4R 4

MterleukinQL) 5 IL5 4

MterleukinQL) 5 receptor IL5R 4

InterleukMQL) 6 IL6 4

MterleukinQL) 6 receptor IL6R 4

InterleukinQL) 7 IL7 4

InterleukinQL) 7 receptor IL7R 4

InterleukMQL) 8 IL8 4

MterleukinQL) 8 receptor IL8R 4

InterleukinQL) 9 IL9 4

InterleukinQL) 9 receptor IL9R 4

InterleukinQL) receptor antagomst 1 IL1RN, ILLRA 4

IP3 kinase 1

Isocitrate dehydrogenase 1

Isovaleric acid CoA dehydrogenase IVD 1

Janus Idnase 1 JAKI 6

Janus Idnase 2 JAK2 6

Janus kinase 3 JAK3 6

Kallman syndrome gene 1 KALI 6

Kell blood group precursor XK, KEL 2

Keratin 1 KRT1 3

Keratin 10 KRT10 3

Keratin 11 KRT11 3

Keratin 12 KRT12 3

Keratin 13 KRT13 3

Keratin 14 KRT14 3

Keratin 15 KRT15 3

Keratin 16 KRT16 3 Keratin 17 KRT17, PCHC1 3

Keratin 18 KRT18 3

Keratin 2 KRT2 3

Keratin 3 KRT3 3

Keratin 4 KRT4 3

Keratin 5 KRT5 3

Keratin 6 KRT6 3

Keratin 7 KRT7 3

Keratin 8 KRT8 3

Keratin 9 KRT9 3

Ketohexokinase KHK 1

Kinectin KTN1 6

Kinesin, heavy chain KNSL1 6

Kinesin, light chain KNS2 6

Ll cell adhesion molecule L1CAM 5

Lactotiansferrin LTF 2

Lamin A/C LMNA 6

Lamimn 5, alpha 3 LAMA3 6

Lamimn 5, beta 3 LAMB3 6

Lamimn 5, gamma 2 LAMC2 6

Lammin M LAMM 6

Lamimn receptor 1 LAMR1 6

Latent transforming growth factor-beta bMding LTBP2 6 protein 2

Leptin LEP 6

Leptin receptor LEPR 6

Leukaemia inMbitory factor LIF 6

Leukaemia inMbitory factor receptor LIFR 6

Leukin 4

Leukocyte-specific transcript 1 LST-1 4

Leukotriene A4 hydrolase 4

Leukotriene A4 synthase LTA4S 1

Leukotriene B4 receptor 4

Leukotriene B4 synthase LTB4S 1

Leukotriene C4 receptor 4

Leukotriene C4 synthase LTC4S 1

Leukotriene D4/E4 receptor 4

LH/choriogonadotropin (CG) receptor LHCGR 6

LIM homeobox protein 1 LHX1 6

LIM homeobox protein 2 LHX2 6

LIM homeobox proteM 3 LHX3 6

LIM homeobox proteM 4 LHX4 6

LIM homeobox transcription factor 1, beta LMX1B 6

Limb girdle muscular dystiophy 1 A LGMD1A 6

Limb girdle muscular dystiophy 1 B LGMDI B 6

Limb girdle muscular dystiophy 2G LGMD2G 6

Limb girdle muscular dystrophy 2H LGMD2H 6 Limbic associated membrane protem LAMP 6

LIM-domaM oMy protein 1 LM01 6

LIM-domaM oMy protein 2 LM02 6

LIM-domaM oMy protein 3 LM03 6

LIM-domaM oMy protein 4 LM04 6

Lipoma-prefened partner gene LPP 6

Lipoprotein receptor, Low Density LDLR 2

Lipoxygenase 12 (platelets) LOG12 4

Lipoxygenase 5 (leukocytes) 4

Long QT-type 2 potassium Channels LQT2, KCNH2 2

Loricrin LOR 3

Low density lipoproteM receptor-related proteM LRP 2 precursor

Luteimzing hormone, beta chain LHB 6

Lymphoblastic leukemia derived sequence 1 LYL1 4

Lymphocyte-specific protein tymsine kinase LCK 4

Lymphoid enhancer-bindmg factor LEF-1 6

Lysosome-associated membrane protein 1 LAMP1 6

Lysosome-associated membrane proteM 2 LAMP2 6

MAD (mothers against decapentaplegic, MADH2 6

DrosopMla) homologue 2

MAD (mothers against decapentaplegic, MADH3

DrosopMla) homologue 3

MAD (mothers agaMst decapentaplegic, MADH4

DmsopMla) homologue 4

MADS box transcription-enhancer factor 2A MEF2A 6

MADS box tianscription-enhancer factor 2B MEF2B 6

MADS box tianscription-enhancer factor 2C MEF2C 6

MADS box transcription-enhancer factor 2D MEF2D 6

Malate dehydrogenase, mitochondrial MDH2 1

Malignant proliferation, eosmopMl gene MPE 4

Malonyl CoA decarboxylase 1

Malonyl CoA tiansferase 1

Mannosidase, alpha B lysosomal MANB 1

Mannosidase, beta A lysosomal MANBA 1

MAPK kinase 1 MAPKK1; MEK1 6

MAPK kinase 4 MAPKK4; MEK4; 6

SERK1

MAPK kinase 6 MAPKK6;MEK6 6 MAPKK kinase MAPKKK 6 Matrix Gla protein MGP 6 Matiix metalloproteMase 1 NMP1 Matrix metalloproteinase 10 NMP10 Matrix metalloproteinase 11 MMP11 Matrix metalloproteMase 12 MMP12 Matrix metalloproteinase 13 MMP13 Matrix metalloproteinase 14 MMP14 Matrix metalloprotemase 15 MMP15

Matrix metalloproteinase 16 MMP16

Matiix metalloproteinase 17 MMP17

Matrix metalloproteMase 18 MMP18

Matiix metalloproteinase 19 MMP19

Matrix metalloproteinase 2 MMP2

Matrix metalloproteMase 3 MMP3, STMY1

Matiix metalloproteinase 4 MMP4

Matrix metalloproteinase 5 MMP5

Matrix metalloproteMase 6 MMP6

Matrix metalloproteinase 7 MMP7

Matrix metalloproteinase 8 MMP8

Matrix metalloproteinase 9 MMP9

MAX-interacting protein 1 MXI1 6

MEK kinase, MEKK 1

Melanocortin 1 receptor MC1R 2

Melanocortin 2 receptor MC2R 2

Melanocortin 4 receptor MC4R 2

Memn MEN1 6

Mesoderm-specific tianscript MEST 6

MetMomne adenosyltiansferase MAT1A, MAT2A

MetMomne synthase MTR

MetMomne synthase reductase MTRR

Methylguanine-DNA methyltiansferase MGMT

Methylmalonyl-CoA mutase MUT

Mevalonate kMase MVK

MHC Class 1: A 4

MHC Class 1: B 4

MHC Class 1: C 4

MHC Class 1: LMP-2, LMP-7 4

MHC Class 1: Tapl ABCR,TAP1 4

MHC Class II: DP HLA-DPB1 4

MHC Class II: DQ 4

MHC Class II: DR 4

MHC Class II: Tap2 TAP2,PSF2 4

MHC Class ILComplementation group A MHC2TA 4

MHC Class ILComplementation group B RFXANK 4

MHC Class ILComplementation group C RFX5 4

MHC Class ILComplementation group D RFXAP 4

Microphthalmia-associated tianscription factor MITF 6

Microsomal tiiglyceride transfer protein MTP 2

MicroMble associated protein MAP 3

Midline I MIDI 6

Mismatch repair gene, PMSL1 PMS1 6

Mismatch repair gene, PMSL2 PMS2 6

Mitochondrial trifunctional protem, alpha HADHA 1 subumt Mitochondrial trifunctional proteM, beta subumt HADHB 1

Mitogen-activated protem (MAP) Idnase MAPK 6

Molybdenum cofactor synthesis 1 MOCS1 1

Molybdenum cofactor synthesis 2 MOCS2 1

Monoamine oxidase A MAOA 1

MonoamMe oxidase B MAOB 1

Monocyte chemoattiactant protein 1 MCP1 4

MotilM MLN 6

Msh homeobox homolog 1 MSX1 6

Msh homeobox homolog 2 MSX2 6

Mucolipidoses GNPTA 1

Mulibrey namsm MUL 2

Multidrug resistance associated protein MRP 6

Muscarimc receptor, Ml CHRM1 5

Muscarimc receptor, M2 CHRM2 5

Muscarimc receptor, M3 CHRM3 5

Muscarimc receptor, M4 CHRM4 5

Muscarimc receptor, M5 CHRM5 5

Muscle phosphorylase PYGM 1

Mutated in colorectal cancers, MCC MCC 6

MutL homolog 1 MLH1 6

MutS homolog 2 MSH2 6

MutS homolog 3 MSH3 6

Myelin protein peripheral 22 PMP22 3

Myelin protein zero MPZ 3

Myelodysplasia syndrome 1 gene MDS1 6

Myeloid leukemia factor- 1 MLF1 4

Myocilin MYOC 2

Myogemc factor 3 MYF3 6

Myogemc factor 4 MYF4 6

Myogemc factor 5 MYF5 6

Myomesin 1 MYOM1 3

Myomesin 2 MYOM2 3

Myosin 15 MYO15 3

Myosin 6 MY06 3

Myosm 7A MY07A 3

Myosin, cardiac MYH7 3

Myotubularin MTM1 3

Na+, K+ ATPase, alpha ATP1A1 6

Na+, K+ ATPase, beta 1 ATP1B1 6

Na+, K+ ATPase, beta 2 ATP1B2 6

Na+ H+ exchanger 1 NHE1 2

Na+/H+ exchanger 2 NHE2 2

Na+/H+ exchanger 3 NHE3 2

Na+/H+ exchanger 4 NHE4 2

Na+/H+ exchanger 5 NHE5 2

N-acetylgalactosamMe-6-sulfate sulfatase GALNS 1 N-acetylglucosamMe-6-sulfatase GNS 1

N-acetylglucosammidase, alpha NAGLU 1

N-acetyltransferase 1 NAT1 1

N-acetyltransferase 2 NAT2 1

NADH dehydrogenase 1

NADH dehydrogenase (ubiquMone) Fe-S NDUFS1 1 protein 1

NADH dehydrogenase (ubiquMone) Fe-S NDUFS4 1 protem 4

NADH dehydrogenase (ubiquinone) NDUFV1 1 flavoprotein 1

NADH-cytocMome b5 reductase DIA1 1 reductase

NADPH-dependent cytocMome P450 POR 1 reductase

Natural resistance-associated macrophage NRAMP1 4 protein 1

NB6 4

NecdM NDN 6

NepMonophtMsis 1 NPHP1 2

NepMonophtMsis 2 NPHP2 2

NepMosis 1 NPHS1 2

Nerve growth factor NGF 6

Nerve growth factor receptor NGFR 6

Neural retina-specific gene NRL 6

Neurammidase sialidase NEU 2

Neuregulin HGL 6

Neurite growth-promoting factor 2 MDK 5

Neurite inMbitory protein 5

NeuroendocrMe convertase 1 NEC1, PCSK1 1

Neurofibromin 1 NFI 6

Neurofibromin 2 NF2 6

Neurofliament protein, heavy NFH 3

Neurofliament protein, NF68 NF68 3

Neuronal apoptosis inMbitory proteM NAIP 4

Neuronal molecule- 1 4

Neuronal molecule- 1 receptor 4

Neuropeptide Y NPY 5

Neuropeptide Y receptor Yl NPY1 R 5

Neuropeptide Y receptor Y2 NPY2R 5

NeurotiopMc tyrosme kinase receptor 1 NTRK1 6

NeurotropMn 3 NTF3 or NT3 6

Neurturin NRTN 6

Neutral endopeptidase 1

NeutiopMl cystolic factor 1 NCF1

NeutiopMl cystolic factor 2 NCF2

Niacin receptor 6 Nibrin NBS1 6

Nitric oxide synthase 1, NOSl NOSl 1

Nitric oxide synthase 2, NOS2 NOS2 1

Nitric oxide synthase 3, NOS3 NOS3 1

Nodal NODAL 6

Noggm NOG 6

Norrie disease protein NDP 6

Notch 1 NOTCH1 6

Notch 2 NOTCH2 6

Notch 3 NOTCH3 6

Notch ligand -jagged 1 JAG 1, AGS 6

Nuclear factor I-kappa-B-like gene IKBL 4

Nuclear factor kappa beta NFKB 4

Nuclear factor of activated T cells (NFAT) NFATC 6 complex, cytosolic

Nuclear factor of activated T cells (NFAT) NFATP 6 complex, preexisting component

Nuclear mitotic apparatus protein 1 NUMA1 6

Nucleophosmin NPM1 2

Nucleoside diphosphate kinase-A NDPKA 1

Ocular albimsm 1 OA1 3

Oculocutaneous albimsm II OCA2 3

OligopMemn-1 OPHN1 6

Oncogene abll ABL1 6

Oncogene abl2 6

Oncogene aktl 6

Oncogene akt2 AKT2 6

Oncogene axl AXL 6

Oncogene bcl2 6

Oncogene bcr/abl 6

Oncogene B-lym 6

Oncogene B-raf 6

Oncogene clkl 6

Oncogene c-myc 6

Oncogene cot 6

Oncogene crk 6

Oncogene crkl 6

Oncogene ect2 6

Oncogene ELK1 ELK1 6

Oncogene ELK2 ELK2 6

Oncogene emsl 6

Oncogene ERB 6

Oncogene ERB2 6

Oncogene ERBA 6

Oncogene ERBAL2 6

Oncogene ERG (early reponse gene) 6

Oncogene ETS1 6 Oncogene ETS2 6

Oncogene EVI1 EVI 1 6

Oncogene fes 6

Oncogene fgr 6

Oncogene fos FOS 6

Oncogene fps 6

Oncogene GLI1 GLI 6

Oncogene GLI2 GLI2 6

Oncogene GLI3 GLI3 6

Oncogene grol 6

Oncogene gro2 6

Oncogene Ha-ras HRAS 6

Oncogene hsl 6

Oncogene hst FGF4 6

Oncogene Mtl WNT1 6

Oncogene Mt2 FGF3 6

Oncogene int3 Notch4 6

Oncogene int4 WNT3 6

Oncogene jun JUN 6

Oncogene KIT KIT, PBT 6

Oncogene LCO LCO 6

Oncogene I-myc 6

Oncogene Ipsa 6

Oncogene lyn 6

Oncogene maf 6

Oncogene masl 6

Oncogene mcf2 6

Oncogene mdm2 MDM2 6

Oncogene mel 6

Oncogene met MET 6

Oncogene mos 6

Oncogene mpl 6

Oncogene MUM1 MUM1 6

Oncogene myb MYB 6

Oncogene myc MYC 6

Oncogene n-myc 6

Oncogene N-ras (neuroblastoma v-ras) NRAS 6

Oncogene ovc 6

Oncogene pimi 6

Oncogene pti-lsea 6

Oncogene pvtl 6

Oncogene raf RAF 6

Oncogene ralb 6

Oncogene rel 6

Oncogene ret RET 6

Oncogene r-myc 6

Oncogene ros 6 Oncogene R-ras 6

Oncogene sis PDGFB 6

Oncogene ski 6

Oncogene sno 6

Oncogene spil 6

Oncogene src 6

Oncogene tc21 6

Oncogene TEL ETV6 6

Oncogene tim 6

Oncogene vavtik 6

Oncogene v-Ki-ras2 KRAS2 6

Oncogene yes 6

Oncogene yuasa 6

Oncostatin M OSM 6

Oncostatin M receptor OSMR 6

Orexin OX 6

Orexin 1 receptor OXIR 6

OrexM 2 receptor OX2R 6

OmitMne delta-aminotiansferase OAT 1

OmitMne transcarbamoylase OTC, NMEl 1

Orthodenticle (DrosopMla) homolog 1 OTX1 6

Orthodenticle (DrosopMla) homolog 2 OTX2 6

Osteocalcm 3

Osteonectin ON 6

Osteopontin OPN 6

Osteoprotegerin OPG 6

Otoferlin OTOF 5

Oxytocin OXT 5

Oxytocin receptor OXTR 5 p21 -activated kinase 3 PAK3 6

Paired box homeotic gene 1 PAX1 6

Paired box homeotic gene 2 PAX2 6

Paired box homeotic gene 3 PAX3 6

Paired box homeotic gene 6 PAX6 6

Paired box homeotic gene 7 PAX7 6

Paired box homeotic gene 8 PAX8 6

Paired-like homeodomain tianscription factor 2 PITX2 6

Paired-like homeodomain transcription factor 3 PITX3 6

Palmitoyl-protein tMoesterase PPT 2

Pancreatic amylase 1

Parathyroid hormone PTH 6

Parathyroid hormone receptor PTHR1 6

Parathyroid hormone related-peptide PTHRP 6

Parathyroid hormone-like hormone PTHLH 6

Parvalbumin PVALB 6

Patched (DrosopMla) homolog, PTCH PTCH 6

PCNA (proliferating cell nuclear antigen) 1 Peanut-like 1 PNUTLl 4

Pendrin, PDS PDS 2

Peptidylglyc e alpha-amidating PAM 1 monooxygenase

Peripherin, PRPH 3

Peroxisomal membrane protein 1 PXMPl 3

Peroxisomal membrane protem 3 PXMP3 2

Peroxisome biogenesis factor 1 PEXl 2

Peroxisome biogenesis factor 19 PEXl 9 2

Peroxisome biogenesis factor 6 PEX6 2

Peroxisome biogenesis factor 7 PEX7 2

Peroxisome proliferative activated receptor, PPARA 2 alpha

Peroxisome proliferative activated receptor, PPARG 2 gamma

Peroxisome receptor 1 PXR1 2

Phenylethanolamine N-methyltransferase, PNMT 1

PNMT

Phosphatase & tensin homolog PTEN 6

Phosphate regulatmg gene with homologies to PHEX 6 endopeptidases on the X cMomosome

Phosphatidylinositol glycan, class A PIGA 6

(paroxysmal nocturnal hemoglobinuria)

Phosphatidylinositol transfer protein PITPN 6

Phosphodiesterase 1/ nucleotide PDNPl 6 pyrophosphatase 1

Phosphodiesterase 1 / nucleotide PDNP2 6 pyrophosphatase 2

Phosphodiesterase 1 / nucleotide PDNP3 6 pyrophosphatase 3

Phosphofructokinase, liver PFKL

Phosphofructokinase, muscle PFKM

Phosphoglucose isomerase GPI

Phosphoglycerate kinase 1 PGKL

Phosphoglycerate mutase 2 PGAM2

Phospholipase A2, group 10 PLA2G10 4

Phospholipase A2, group IB PLA2G1B 4

Phospholipase A2, group 2A PLA2G2A 4

Phospholipase A2, group 2B PLA2G2B 4

Phospholipase A2, group 4A PLA2G4A 4

Phospholipase A2, group 4C PLA2G4C 4

Phospholipase A2, group 5 PLA2G5 4

Phospholipase A2, group 6 PLA2G6 4

Phospholipase C alpha 4

Phospholipase C beta 4

Phospholipase C delta PLCD1 4

Phospholipase C epsilon 4 Phospholipase C gamma PLCG1 4

Phosphomannomutase 1 PMM1 6

Phosphomannomutase 2 PMM2 6

Phosphomannomutase 2 PMM2 2

Phosphorylase Idnase deficiency, liver PHK 1

Phosphorylase Idnase, alpha 2 PHKA2 1

Phytanoyl-Co A hydroxylase PHYH 6

PlakopMlin 1 PKP1 2

Plasminogen PLG 1

Plasminogen activator inMbitor 1 PAH 1

Plasminogen activator inMbitor 2 PAI 2 1

PlasmMogen activator receptor, Urokinase UPAR;PLAUR 3

PlasmMogen activator, Tissue PLAT;TPA 1

Plasminogen activator, Urokinase UPA;PLAU 1

Platelet derived growth factor PDGF 6

Platelet derived growth factor receptor PDGFR 6

Plectin 1 PLEC1 2

Poly (ADP-ribose) synthetase PARS 1

Poly(A) binding protein 2 PABP2 6

Postsynaptic density-95 protein PSD95 5

Potassium Mwardly-rectifyMg channel Jl KCNJL 5

Potassium Mwardly-rectifyMg channel Jl 1 KCNJL11 5

Potassium voltage-gated channel AI KCNA1 5

Potassium voltage-gated channel El KCNE1 5

Potassium voltage-gated channel Ql KCNQl 5

Potassium voltage-gated channel Q2 KCNQ2 5

Potassium voltage-gated channel Q3 KCNQ3 5

Potassium voltage-gated channel Q4 KCNQ4 5

POU domam, class 1, transcription factor 1 POUIFI 6

(Piti)

POU domain, class 3, transcription factor 4 POU3F4 6

POU domain, class 4, transcription factor 3 POU4F3 6

Pre-B-cell leukemia transcription factor 1 PBX1 6

Preproglucagon GCG;GLPL; GLP2 6

Procoliagen N-protease 1

Procollagen peptidase 1

Profibrinolysin 6 receptor)

ProMbitM PHB 6

Prolactin PRL 6

Prolactin receptor PRLR 6

Prolactin releasMg hormone PRH 6

Proliferin PLF 6

ProlMe dehydrogenase PRODH 1

Pro-melamn-concentrating hormone PMCH 6

Promyelocytic leukemia gene PML 6

Proopiomeianocortin POMC 5 Prophet of Pitl PROP1 6

Propionyl-CoA carboxylase, alpha PCCA 1

Propionyl-CoA carboxylase, beta PCCB 1

Prosaposin PSAP 5

Prostaglandin (PG) D synthase, hematopoietic PGDS 1

Prostaglandin isomerase 6

Prostaglandin-endoperoxidase synthase 2 PTGS2 6

Prostate cancer anti-metastasis gene KAI 1 KAU 6

Protease nex 2 PN2 1

Protective protein for beta-galactosidase PPGB 1

Protein C PROC 4

Protein kinase A 1

ProteM Idnase B PRKB

Protein Idnase C, alpha PRKCA 1

Protein kinase C, gamma . PRKCG 1

Protein Idnase DNA-activated PRKDC 1

Protein kinase G 1

Protein phosphatase 1, regulatory (inMbitor) PPP1R3 1 subimit 3

Protein phosphatase 2, regulatory subimit A, PPP2R1B 1 beta isoform

Protein tyrosine phosphatase, non-receptor PTPN12 6 type 12

Protoporphyrinogen oxidase PPOX 1

Pterin-4-alpha-carbinolamine PCBD

Purine nucleoside phosphorylase NP 1

Purinergic receptor P1A1 5

Purinergic receptor P1A2 5

Purinergic receptor P1A3 5

Purinergic receptor P2X, 1 P2RX1 5

Purinergic receptor P2X, 2 P2RX2 5

Purinergic receptor P2X, 3 P2RX3 5

Purinergic receptor P X, 4 P2RX4 5

Purinergic receptor P2X, 5 P2RX5 5

Purinergic receptor P9X, 6 P2RX6 5

Purinergic receptor P2X, 7 P2RX7 5

Purinergic receptor P2Y, 1 P2RY1 5

Purinergic receptor P2 Y, 11 P2RY11 5

Purinergic receptor P2Y, 2 P2RY2 5

Pyrroline-5-carboxylate synthetase PYCS 1

Pyruvate carboxylase PC 1

Pyruvate decarboxylase PDHA 1

Pyruvate kinase PKLR 1

RAD51 , DNA repair protem RAD51 6

RAD52, DNA repair proteM RAD52 6

RAD54, DNA repair proteM RAD54 6

RAD55, DNA repair protein RAD55 6 RAD57, DNA repair proteM RAD57 6

Ras-G-proteM RAS 6

Ratiike pouch homeobox, RPX RPX 6

Receptor tyrosine kMase (RTK), Nsk2 NSK2 6

Recombination activating gene 1 RAG1 6

Recombination activating gene 2 RAG2 6

Red cone pigment RCP 3

Relaxin Hl RLN1 6

RelaxM H2 RLN2 6

Replication factor A 1

Replication factor C RFC2 1

Retinal pigment epithelium specific protein RPE65 3

(65kD)

Retimtis pigmentosa gene 1 RP1 3

Retimtis pigmentosa gene 2 RP2 3

Retimtis pigmentosa gene 3 RP3 3

Retimtis pigmentosa gene 6 RP6 3

Retimtis pigmentosa gene 7 RP7, RDS 3

Retinoblastoma 1 RB1 6

Retinoic acid receptor, alpha RARA 6

Retinoic acid receptor, beta RARB 6

Retinoic acid receptor, gamma RARG 6

Retinoid X receptor, alpha RXRA 6

Retinoid X receptor, beta RXRB 6

Retinoid X receptor, gamma RXRG 6

RetinoscMsis, X-linked, juvemle RS 6

Rhabdoid tumors SMARCB1 6

Rhodopsin RHO 3

Ribonucleotide reductase, RRM 1

Ribosomal protein L13A RPL13A 6

Ribosomat proteM L17 RPL17 6

Ribosomal protein S19 RPS19 1

Ribosomal protein S4, X-linked RPS4X 1

Ribosomat protein S6 Idnase RPS6KA3 1

Ribosomal proteM S9 RPS9 6

RIGUI RIGUI 6

Rod outer segment membrane proteM 1 ROM1 3

Ryanodine receptor 1, skeletal RYR1 6

SA homolog SAH 6

Sal-like 1 SALL1 6

Secretin SCT 2

Semaphorin A4 SEMA4 3

Semaphorin A5 SEMA5 3

Semaphorin D 3

Semaphorin E SEMAE 3

Semaphorin F SEMA3/F 3

Semaphorin W SEMAW 3 Serine/tMeomne Idnase 11 STK11 6

Serine/tMeomne Idnase 2 STK2 6

Serotomn N-acetyltransferase SNAT 1

Serotomn receptor, 5HT1 A HTR1A 5

Serotomn receptor, 5HT1B HTR1B 5

SerotonM receptor, 5HT1C HTR1C 5

SerotonM receptor, 5HT1D HTR1D 5

SerotonM receptor, 5HT1E HTR1E 5

Serotomn receptor, 5HT1F HTR1F 5

Serotomn receptor, 5HT2A HTR2A 5

Serotomn receptor, 5HT2B HTR2B 5

Serotomn receptor, 5HT2C HTR2C 5

Serotomn receptor, 5HT3 HTR3 5

Serotomn receptor, 5HT4 HTR4 5

Serotomn receptor, 5HT5 HTR5 5

Serotomn receptor, 5HT6 HTR6 5

Serotomn receptor, 5HT7 HTR7 5

Serum amyloid A SAA 2

Serum amyloid P SAP 2

Sex determimng region Y, SRY SRY 6

Short stature homeobox SHOX 6

Sialoprotein, bone BSP 6

Signal transducer and activator of transcription STAT1 6

1

Signal transducer and activator of transcription STAT2

2

Signal transducer and activator of tianscription STAT3

3

Signal transducer and activator of transcription STAT4

4

Signal transducer and activator of transcription STAT5

5

Signaling lymphocyte activation molecule SLAM 4

Sine oculis homeobox, drosopMla, homolog 1 SDÜ 6

Sine oculis homeobox, drosopMla, homolog 2 SIX2 6

Sine oculis homeobox, drosopMla, homolog 5 SIX5 6

Sjoegren (Sjogren) syndrome antigen AI SSAL 4

Slug protein 6

Small nuclear ribonucleoprotein polypeptide N SNRPN 3

Smoothelin SMTN 6

Smoothened (DrosopMla) homolog SMOH 6

Sodium Channel, non-voltage gated 1, alpha SCNNIA 5

Sodium channel, non-voltage gated 1, beta SCNNIB 5

Sodium Channel, non-voltage gated 1, gamma SCNNIG 5

Sodium channel, voltage gated, type TV, alpha SCN4A 5 polypeptide

Sodium Channel, voltage gated, type V, alpha SCN5A polypeptide

Sodium Channel, voltage-gated, type 1, beta SCN1B 5 polypeptide

Solute carrier family 1 (amino acid transporter), SLC1A6 2 member 6

Solute carrier family 1 (glial Mgh affimty SLC1A3 2 glutamate transporter), member 3

Solute carrier family 1 (glutamate tiansporter), SLC1A1 2 member 1

Solute carrier family 1 (glutamate tiansporter), SLC1A2 2 member 2

Solute carrier family 1 (neutral amino acid SLC1A4 2 tiansporter), member 4

Solute carrier family 10 (sodium/bile acid SLC10A1 2 cotransporter family), member 1

Solute carrier family 10 (sodium/bile acid SLC10A2 2 cotransporter family), member 2

Solute carrier family 12, member 1 SLC12A1 2

Solute carrier family 12, member 2 SLC12A2 2

Solute carrier family 12, member 3 SLC12A3 2

Solute carrier family 14, member 2 SLC14A2 2

Solute carrier family 15 (H+/peptide SLCl5AI 2 transporter, intestinal), member 1

Solute carrier family 15 (H+/peptide SLC15A2 2 tiansporter, kidney), member 2

Solute carrier family 16 (monocarboxylate SLC16A1 2 tiansporter), member 1

Solute carrier family 16 (monocarboxylate SLC16A7 2 tiansporter), member 7

Solute carrier family 17, member 1 SLC17A1 2

Solute carrier family 17, member 2 SLC17A2 2

Solute carrier family 18, member 3 SLC18A3 2

Solute carrier family 19 (folate tiansporter), SLC19A1 2 member 1

Solute carrier family 2 (facilitated glucose SLC2A1 2 tiansporter), member 1

Solute carrier family 2 (facilitated glucose SLC2A2 2 transporter), member 2

Solute carrier family 2 (facilitated glucose SLC2A3 2 transporter), member 3

Solute carrier family 2 (facilitated glucose SLC2A4 2 transporter), member 4

Solute carrier family 2 (facilitated glucose SLC2A5 2 tiansporter), member 5

Solute carrier family 20, member 1 SLC20A1 2

Solute carrier family 20, member 2 SLC20A2 2

Solute carrier family 20, member 3 SLC20A3 2 Solute carder family 21, member 2 SLC21A2 2

Solute carrier family 21, member 3 SLC21A3 2

Solute carrier family 22, member 1 SLC22A1 2

Solute carrier family 22, member 2 SLC22A2 2

So ute carrier family 22, member 5 SLC22A5 2

Solute carrier family 25, member 12 SLC25A12 2

Solute carrier family 3 (facilitated glucose SLC3A1 2 transporter), member 1

Solute carrier family 4 (amon exchanger), SLC4A1 2 member 1

Solute camer family 4 (amon exchanger), SLC4A2 2 member 2

Solute carrier family 4 (amon exchanger), SLC4A3 2 member 3

Solute carrier family 5 (sodium/glucose SLC5A1 2 tiansporter), member 1

Solute carrier family 5 (sodium/glucose SLC5A2 2 transporter), member 2

Solute carrier family 5 (sodium/glucose SLC5A5 2 tiansporter), member 5

Solute carrier family 5, member 3 SLC5A3 2

Solute carrier family 6 (GAMMA- SLC6A1 2

AMINOBUTYRIC ACID tiansporter), member 1

Solute carrier family 6 (neurotiansmitter SLC6A3 2 tiansporter, dopamine), member 3

Solute carrier family 6 (neurotransmitter SLC6A2 2 tiansporter, noradrenaline), member 2

Solute carder family 6 (neurotransmitter SLC6A4 2 transporter, serotomn), member 4

Solute carrier family 6, member 10 SLC6A10 2

Solute carrier family 6, member 6 SLC6A6 2

Solute carrier family 6, member 8 SLC6A8 2

Solute carrier family 7(amino acid transporter), SLC7A1 2 member 1

Solute carrier family 7(amino acid tiansporter), SLC7A2 2 member 2

Solute carrier family 7(amino acid tiansporter), SLC7A7 2 member 7

So ute carrier family 8 (sodium/calcium SLC8A1 2 exchanger), member 1

Somatostatin receptor, SSTR2 SSTR2 6

SomatotiopMn 6

Somc hedgehog, SHH SHH 6

Sorbitol dehydrogenase SORD 1

Sorcin SRI 2

SOSI guamne nucleotide exchange factor SOSI 6

Spastic paraplegia 7 SPG7 6 Spectrin alpha SPTAL 3

Spectdn beta SPTB 3

Sperm adhesion molecule SPAMI 6

Sperm prolamine Pl PRMl 6

Sperm prolamine P2 PRM2 6

SphMgomyelinase SMPDl 1

Spinocerebellar ataxia 8 gene SCA8 5

Split hand/foot malformation gene DSS1 6

SRY-box 10 SOX10 6

SRY-box 11 SOXll 6

SRY-box 3 SOX3 6

SRY-box 4 SOX4 6

SRY-box 9 SOX9 6

Stern cell factor SCF 6

Steroid 5 alpha reductase 1 SRD5A1 1

Steroid 5 alpha reductase 2 SRD5A2 1

Steroid hormone receptor responsive DNA 6 elements

Steroid sulphatase STS 1

Steroidogemc acute regulatory protein STAR 2

Stromal derived factor 1 SDF1 6

Succinate dehydrogenase 1 SDH1 1

Succinate dehydrogenase 2 SDH2 1

Succinate tMokinase 1

Succimc semi-aldehyde dehydrogenase SSADH 1

Suffamidase SGSH 6

Sulfite oxidase SUOX 1

Sulfonylurea receptor SUR 6

Suppression of tumorigemcity 3 gene ST3 6

Suppression of tumorigemcity 8 gene ST8 6

Surfactant pulmonary-associated protein AI SFTPAl 2

Surfactant pulmonary-associated protein A2 SFTPA2 2

Surfactant pulmonary-associated protein B SFTPB 2

Surfactant pulmonary-associated protein C SFTPC 2

Surfactant pulmonary-associated protein D SFTPD 2

Surfeit 1 SURFl 6

Survival of motor neuron 1, telomeric SMN1 2

SYK-related tyrosme Idnase SRK 4

Syndecan 1 SYND1 6

Syndecan 2 SYND2 6

Syndecan 3 SYND3 6

Syndecan 4 SYND4 6

Synovial sarcoma gene 1 SSX1 6

Synovial sarcoma gene 2 SSX2 6

TalM TLN 6

TATA bindMg protein TBP 6

TATA bMding protein associated factor 2A TAF2A 6 TATA bindMg protein associated factor 2C2 TAF2C2 6

TATA bindmg protein associated factor 2D TAF2E 6

TATA bmdmg protein associated factor 2F TAF2F 6

TATA bmdmg proteM associated factor 2H TAF2H 6

TATA bindmg protem associated factor 21 TAF21 6

TATA bindmg proteM associated factor 2J TAF2J 6

TATA bMding protein associated factor 2K TAF2K 6

Tau proteM MAPT 3

T-BOX 1 TBX1 6

T-BOX 2 TBX2 6

T-BOX 3 TBX3 6

T-BOX 4 TBX4 6

T-BOX 5 TBX5 6

T-BOX 6 TBX6 6

T-cell acute lymphocytic leukemia 1 TAL1 4

T-cell acute lymphocytic leukemia 2 TAL2 4

T-cell receptor, alpha TCRA 4

T-cell receptor, delta TCRD 4

Telomerase protein component 1

Tenascin (cytotactin) 3

Tenascm XA TΝXA 3

Terminal deoxynucleotidyltiansferase, TDT 1

Testis-specific protein Y TSPY 6

TMolase, perioxisomal 1

TMopurine S-methyltiansferase TPMT 1

TMombopoietm THPO 6

TMombospondin THBSl 6

TMomboxane A synthase 1 TBXASl 4

TMomboxane A2 TXA2 4

TMomboxane N2 receptor TBXA2R 4

Thy-1 T-cell antigen THY1 4

Thymidylate synthase TYMS 1

Thymopoietin TMPO 6

Thyroglobulin TG 6

Thyroid hormone receptor, alpha THRA 6

Thyroid hormone receptor, beta THRB 6

Thyroid peroxidase TPO 6

Thyroid receptor auxiliary proteM TRAP 6

Thyroid-stimulating hormone receptor TSHR 6

Thyroid-stimulating hormone, alpha TSHA 6

Thyroid-stimulating hormone, beta TSHB 6

Thyrotroph embryomc factor TEF 6

Thyrotropin releasing hormone TRH 6

Thyrotropin releasing hormone receptor TRHR 6

Thyroxin-bMding globulm TBG 2

TIE receptor tyrosine kinase TES-1 6

Tip-associated proteM TAP 4 Tissue inMbitor of metalloproteMase 1, TIMP1 TEMPI 1

Tissue inMbitor of metalloproteMase 2, TIMP2 TIMP2 1

Tissue inMbitor of metalloproteMase 3, TIMP3 T P3 1

Tissue inMbitor of metalloproteinase 4, TIMP4 TIMP4 1

Tissue non-specific alkalMe phosphatase 1

TNSAP

Titin TTN 3

Tocopherol (alpha) transfer proteM TTPA 2

Toll-like receptor 4 TLR4 4

Topoisomerase I 1

Topoisomerase II 1

Torticollis, keloids, cryptorcMdism and renal TKCR 6 dysplasia gene

Transacylase 1

Transcobalamin 1, TCN1 2

Transcobalamin 2, TCN2 TCN2 2

Transcription factor 1, hepatic TCF1 6

Transcription factor 2, hepatic TCF2 6

Transcription factor 3 TCF3 6

Transcription factor bMding to IGHM enhancer TFE3 6

3

Transcription factor, TUPLE1 TUPLE1 5

Transcription termination factor, RNA TTF1 6 polymerase 1

Transcription termination factor, RNA TTF2 6 polymerase 2

Transcription termination factor, RNA TTF3 6 polymerase 3

Transferrin TF 6

Transferrin receptor TFRC 6

Transforming growth factor, alpha TGFA 6

TransformMg growth factor, beta 2 TGFB2 6

Transforming growth factor, beta induced TGFB1 6

Transforming growth factor, beta receptor 2 TGFBR2 6

Transglutammase 1 TGMI 6

TransglutamMase 2 TGM2 6

Transglutammase 4 TGM4 6

Transketolase TKT 1

Transketolase-like 1 TKTL1 1

Translocation in renal carcMoma on TRC8 6 cMomosome 8 gene

Transthyretin TTR 2

Treacle gene TCOF1 6

Triosephosphate isomerase TPI 1 1

Tropomyosm 1 alpha TPM1 3

TropomyosM 3 (non-muscle) TPM3 3

Tropomn C 3 Tropomn I TNNI3 3

Tropomn T2, cardiac TNNT2 3

TrypsM inMbitor 1

TrypsMogen 1 TRY1 1

Trypsinagen 2 TRY2 1

Tryptophan hydroxylase TPH 1

Tubby-like protein 1 TULP1 6

Tuberous sclerosis 1 TSC1 6

Tuberous sclerosis 2 TSC2 6

Tubulin 3

Tumour necrosis factor (TNF) receptor TRAF1 4 associated factor 1

Tumour necrosis factor (TNF) receptor TRAF2 associated factor 2

Tumour necrosis factor (TNF) receptor TRAF3 4 associated factor 3

Tumour necrosis factor (TNF) receptor TRAF4 4 associated factor 4

Tumour necrosis factor (TNF) receptor TRAF5 4 associated factor 5

Tumour necrosis factor (TNF) receptor TRAF6 4 associated factor 6

Tumour necrosis factor alpha TNFA 4

Tumour necrosis factor alpha receptor TNFAR 4

Tumour necrosis factor beta TNFB 4

Tumour necrosis factor beta receptor TNFBR 4

Tumour protein p53 TP53,P53 6

Tumour protein p63 TP63 6

Tumour protein p73 TP73 6

Tumour protein, transiationally-contiolled 1 TPT1 6

Tumour suppresssor gene DRA DRA 4

Twist (DrosopMla) homolog TWIST 6

Tyrosinase TYR 1

Tyrosinase-related protein 1 TYRP1 1

Tyrosine aminotiansferase TAT 1

Tyrosine hydroxylase TH 1

Ubiquitin 6

Ubiquitin activating enzyme, El 1

Ubiquitin B UBB 6

Ubiquitin C UBC 6

Ubiquitin carboxyl-terminal esterase Ll UCHL1 6

UbiquitM fiision degeneration I-like UFD1L 6

Ubiquitin protein ligase E3 A UBE3A 1

UDP-glucose pyrophosphorylase 1

UDP-glucuronosyltransferase 1 ugtld, UGT1 1

UDP-glucuronosyltiansferase 2 UGT2 1

UncouplMg protein 1 2 Uncoupling proteM 3 UCP3 2

UndulM 1 COL14A1 3

Uridine monophosphate kinase UMPK 4

Uridine monophosphate synthetase UMPS 4

UridMediphosphate(UDP)-galactose-4- GALE 1 epimerase

Uroporphyrinogen decarboxylase UROD 1

Uroporphyrinogen III synthase UROS 1

Usher syndrome 2A USH2A 3

Vascular endothelial growth factor VEGF 6

VasoinMbitory peptide 6

Vitamin B12-bindMg (R) proteM 6

Vitamin D receptor VDR 6

Vitelliform macular dystiophy, atypical gene VMD1 2 v-myc avian myelocytomatosis viral oncogene MYC 6 homolog

Von Hippel-Lindau gene VHL 6

Werner syndrome helicase WRN 6

Wilms tumour gene 1 WT1 6

Wilms titmour gene 2 WT2 6

Wilms tumour gene 4 WT4 6

Winged helix nude WHN 6

Wingless family, wnt2 WNT2 6

Wingless family, wnt4 WNT4 6

WMgless family, wnt5 WNT5 6

Wingless family, wnt7 WNT7 6

Wingless family, wnt8 WNT8 6

Wiskoft-Aldrich syndrome protem WASP, THC 4

Wnt MMbitory factor, WIF-1 WIF1 6

Wolf-Hirschhorn syndrome candidate 1 gene WHSCl 6

Wolfram syndrome 1 gene WFSl 3

X (inactive)-specific tianscript XIST 6

Xant ne dehydrogenase XDH

Xeroderma pigmentosum, complementation XPA group A

Xeroderma pigmentosum, complementation XPB group B

Xeroderma pigmentosum, complementation XPC group C

Xeroderma pigmentosum, complementation group D

Xeroderma pigmentosum, complementation group E

Xeroderma pigmentosum, complementation XPF group F

Xeroderma pigmentosum, complementation ERCC5 group G X-ray repair gene XRCC9 6

Xylitol dehydrogenase 6

YY1 transcription factor YY1 6

Zinc finger protem 2 ZIC2 3

Zinc finger protein 3 ZIC3 3

ZMc finger protein HRX ALLl 4

Zona pellucida glycoprotein I ZPl 6

Zona pellucida glycoproteM 2 ZP2 6

Zona pellucida glycoprotem 3 ZP3 6

Zona pellucida receptor tyrosine kMase ZRK 6

Zonadhesin ZAN 6

dass die mit einer FeMfunktion, Schädigung oder Erkrankung der Haut, der Muskeln, des Bindegewebes oder der Knochen M Zusammenhang stehenden Gene ausgewäMt sind aus:

Liste der Gene HUGO Protein¬

Gensymbol funktion

17beta Hydroxysteroid oxidoreductase 1 5,10-methylenetetrahydrofolate reductase MTHFR 1 (NADPH)

6-Phosphofructo-2-kinase PFKFB1 1 Acetoacetyl 2-CoA-tMolase ACAT2 1 Acetylcholine receptor, nicotimc, alpha AI CHRNAl 5 Acetylcholme receptor, nicotimc, alpha A2 CHRNA2 5 Acetylcholine receptor, nicotMic, alpha A3 CHRNA3 5 Acetylcholine receptor, nicotimc, alpha A4 CHRNA4 5 Acetylcholine receptor, nicotimc, alpha A5 CHRNA5 5 Acetylcholine receptor, nicotimc, alpha A6 CHRNA6 5 Acetylcholine receptor, nicotMic, alpha A7 CHRNA7 5 Acetylcholine receptor, nicotimc, beta 1 CHRNB1 5 Acetylcholine receptor, nicotimc, beta 2 CHRNB2 5 Acetylcholine receptor, nicotimc, beta 3 CHRNB3 5 Acetylcholine receptor, nicotimc, beta 4 CHRNB4 5 AcetylcholMe receptor, nicotimc, epsilon CHRNE 5 Acetylcholine receptor, mcotmic, gamma CHRNG 5 AcetylcholMesterase ACHE 1 AcMomatopsia 2 ACHM2 3 Acid phosphatase 2, lysosomal ACP2 1 Actin, alpha, cardiac ACTC 3 Actin, alpha, skeletal ACTA1 3 Actin, alpha, smooth, aortic ACTA2 3 Actin, beta ACTB 3 Actin, gamma 2 ACTG2 3

Activm 6

Acyl CoA dehydrogenase, short chaM ACADS 1

Acyl-CoA tMoesterase 1

Adaptin, beta 3A ADTB3A 2

AdducM, alpha ADD1 3

AdducM, beta ADD2 3

AdenosMe deaminase ADA 1

Adenosme monophosphate deamMase AMPD 1

Adenosine receptor AI ADORA1 5

Adenosine receptor A2A ADORA2A 5

Adenosine receptor A26 ADORA2B 5

Adenosine receptor A3 ADORA3 5

Adenyl cyclase 5

Adenylate cyclase 1 ADCY1

Adenylate cyclase 2 ADCY2

Adenylate cyclase 3 ADCY3

Adenylate cyclase 4 ADCY4

Adenylate cyclase 5 ADCY5

Adenylate cyclase 6 AOCY6

Adenylate cyclase 7 ADCY7

Adenylate cyclase 8 ADCY8

Adenylate cyclase 9 ADCY9

Adenylate kMase AK1

AdenylosuccMate lyase ADSL

Adrenergic receptor, alphal ADRA1 5

Adrenergic receptor, alpha2 ADRA2 5

Adrenergic receptor, betal ADRB1 5

Adrenergic receptor, beta2 ADRB2 5

Adrenergic receptor, beta3 ADRB3 5

AdrenocorticotropMc hormone (ACTH) ACTHR 6 receptor

Adrenoleukodystiophy gene ALD

Alamne aminotransferase 2

Alamne-glyoxylate aminotransferase AGXT

AlbumM, ALB ALB 2

Alcohol dehydrogenase 1 ADH1

Alcohol dehydrogenase 2 ADH2

Alcohol dehydrogenase 3 ADH3

Alcohol dehydrogenase 4 ADH4

Alcohol dehydrogenase 5 ADH5

Alcohol dehydrogenase 6 ADH6

Alcohol dehydrogenase 7 ADH7

Aldehyde dehydrogenase 1 ALDH1

Aldehyde dehydrogenase 10 ALDH10

Aldehyde dehydmgenase 2 ALDH2

Aldehyde dehydrogenase 5 ALDH5 Aldehyde dehydrogenase 6 ALDH6 1

Aldehyde dehydrogenase 7 ALDH7 1

Aldolase A ALDOA 1

Aldolase B ALDOB 1

Aldolase C ALDOC 1

Aldosterone receptor MLR 6

Alkaline phosphatase, liver/bone/kidney ALPL 2

Alkaptonuria gene AKU 6

Alkylglycerone phosphate synthase AGPS 1 alpha tectorin TECTA 6 alpha thalassemia gene ATRX 5 alpha 1-antichymotrypsin AACT 1 alphal -antitrypsin Pl 1 alpha2-antiplasmM PLI 1 alpha-actmin 2 ACTN2 6 alpha-actinm 3 ACTN3 6 alpha-Galactosidase A GLA 1

Alpha-galactosidase B, GALB NAGA 1 alpha-synucleM SNCA 5

Amelogemn AMELX 3

Aminopeptidase P XPNPEP2 1

AmpMregulin AREG 6

Amylo-1 ,6-glucosidase AGL 1

Amyloid beta A4 precursor protein APP 5

Amyloid beta A4 precursor-like protein APLP 5

Androgen binding protein ABP 2

Androgen receptor AR 6

Angiopoietin 1 ANGPT1 6

Angiopoietin 2 ANGPT2 6

Angiotensin converting enzyme ACE,DCPI 1

Angiotensinogen AGT 1

Antidiuretic hormone receptor ADHR 2

Anti-Mulledan hormone AMH 6

Apolipoprotein A 4 APOA4 2

Apolipoprotein A I APOA1 2

Apolipoprotein A II APOA2 2

Apolipoprotein B APOB 2

Apolipoprotein Cl APOC1 2

ApolipoproteM C2 APOC2 2

Apolipoprotein C3 APOC3 2

ApolipoproteM D APOD 2

Apolipoprotem E APOE 2

ApolipoproteM H APOH 2

ArgMMe vasopressM AVP 5

Argimne vasopressM receptor 1 A AVPR1A 5

Argimne vasopressM receptor IB AVPR1B 5

Argimne vasopressM receptor 2 AVPR2 5 Arrestin SAG 3

Aryi hydrocarbon receptor nuclear ARNT 2 tianslocator

Arylsuffatase A ARSA 1

Arylsulfatase B ARSB 1

Arylsulfatase C ARSCI 1

Arylsulfatase D ARSD 1

Arylsulfatase E ARSE 1

Arylsulfatase F ARSF 1

Aspartate receptor 5

Aspartoacylase ASPA 1

Aspartylglucosamimdase AGA 1

Ataxia telangiectasia complementation group ATD,ATDC 6

D

Ataxia telangiectasia gene, AT ATM 6

ATP cobalamM adenoxyltransferase 1

ATP sulphurylase atpsk2 1

ATP/ADP translocase 1

Aftractin 4

Autoimmune regulator, AIRE AIRE 4

BCL2-related protein AI BCL2A1 6

Benzodiazepme receptor 5

BestropMn VMD2 2 beta 2 Microglobulm B2M 4 beta-endorpMn receptor 5 beta-galactosidase GLBI 1 beta-Glucuromdase GUSB 1 beta-synuclein SNCB 5

BilirubM UDP-glucuronosyltransferase 1

Bloom syndrome protein BLM 6

Blue cone pigment BCP 3

Bone morphogenetic protein, BMP1 BMP1 6

Bone morphogenetic protein, BMP2 BMP2 6

Bone morphogenetic protem, BMP3 BMP3 6

Bone morphogenetic protein, BMP4 BMP4 6

Bone morphogenetic protein, BMP5 BMP5 6

Bone morphogenetic protein, BMP6 BMP6 6

Bone morphogenetic proteM, BMP7 BMP7 6

Bone morphogenetic proteM, BMP8 BMP8 6

Bradykimn receptor Bl 4

Bradykimn receptor B2 4

Branched chaM ammotiansferase 1, cytosolic BCAT1 1

Branched chaM amMotransferase 2, BCAT2 1 mitochondrial

Breast cancer, ductal, 1 BRCD1 6

Breast cancer, ductal, 2 BRCD2 6

Butyrylcholinesterase BCHE 1 Ca(2+) tiansportMg ATPase, fast twitch ATP2A1 2

Ca(2+) transporting ATPase, slow twitch ATP2A2 2

Cadherin E CDH1 6

Cadherin EP 6

Cadherin N CDH2 6

Cadherin P CDH3 6

Calbindin 1 CALB1 6

Calbindin D9K CALB3 6

Calcitomn receptor /CalcitonM gene-related CALCR 5 peptide receptor

Calcitonin/Calcitomn gene-related peptide CALCA alpha

Calcium channel, voltage-dependent, L type, CACNA1S 5 alpha IS submiit

Calcium channel, voltage-dependent, P/Q CACNA1A 5 type, alpha 1A subumt

Calmodulin 1 CALM1 6

Calmodulin 2 CALM2 6

CaMiodulin 3 CALM3 6

Calnexin CANX 6

Calpain CAPN,CAPN3 1

Cannabinoid receptor CNR1 5

Carbomc anhydrase 3 CA3

Carbomc anhydrase 4 CA4

Carbomc anhydrase, alpha CA1

Carbomc anhydrase, beta CA2

Camitine acetyltransferase CRAT

Camitine acylcamitine tianslocase CACT

Camitine palmitoyltransferase I CPT1A

Camitine paimitoyltiansferase II CPT2

Camitine tiansporter protein CDSP,SCD 2

Cartilage oligomeric matiix protem COMP, EDM1, 5

PSACH

Cartilage-hair hypoplasia gene CHH 5

Catemn, beta CTNNB1 6

Cathepsin K CTSK 1

Caveolin 3 CAV3 1

CD1 CD1

C04 CD4

Ceroid lipofuscinosis neuronal 3 CLN3 5

Ce loplasmM precursor CP 1

Chemokine MCAF MCAF 4

CMoride channel 1, skeletal muscle CLCN1 3

Cholecystok M CCK 5

Cholecystokinin B receptor CCKBR 5

Cholesterol ester hydroxylase 1

Choline acetyltransferase CHAT 1 Choroideremia gene CHM 3

Citiate synthase 1

Clathdn 2

Cleft palate gene CPX 6

Cockayne syndrome gene, CKNI CKNI 6

Coenzyme Q (CoQ)/ubiquMone 1

Collagen I alpha 1 COL1A1 3

Collagen I alpha 2 COL1A2 3

Collagen II alpha 1 COL2A1 3

Collagen III alpha 1 COL3A1 3

Collagen IV alpha 1 COL4A1 3

Collagen IV alpha 2 COL4A2 3

Collagen IV alpha 3 COL4A3 3

Collagen IV alpha 4 COL4A4 3

Co lagen IV alpha 5 COL4A5 3

Collagen IV alpha 6 COL4A6 3

Collagen IX alpha 2 COL9A2, EDM2 3

Collagen IX alpha 3 COL9A3 3

Collagen receptor COLR 3

Collagen V alpha 1 COL5A1 3

Collagen V alpha 2 COL5A2 3

Collagen VI alpha 1 COL6AI 3

Collagen VI alpha 2 COL6A2 3

Collagen VI alpha 3 COL6A3 3

Collagen VII alpha 1 COL7A1 3

Collagen X alpha 1 COL10A1 3

Collagen X alpha 1 COLL11A1 3

Collagen XI alpha 2 COLL11A2 3

Collagen XVI I alpha 1 COL17A1 3

Coliagemc-like tail subumt of asymmetric COLQ 1 acetylcholinesterase

CollapsM 6

Colony-stimulatMg factor 1 CSF1 6

Colony-stimulating factor 1 receptor CSF1R 6

Colony-stimulating factor 2 CSF2 6

Colony-stimulatMg factor 2 alpha receptor CSF2RA 6

Colony-stimulating factor 2 beta receptor CSF2RB . 6

Colony-stimulating factor 3 CSF3 6

Colony-stimulatMg factor 3 receptor CSF3R 6

Complement component Cl MMbitor C1NH 4

Complement component CIQA CIQA 4

Complement component CIQB CIQB 4

Complement component CIQG CIQG 4

Complement component Clr CIR 4

Complement component Cls C1S 4

Complement component C2 C2 4

Complement component C3 C3 4 Complement component C4A C4A 4

Complement component C4B C4B 4

Complement component C5 C5 4

Complement component C6 C6 4

Complement component C7 C7 4

Complement component C8 C8B 4

Complement component C9 C9 4

Complement component receptor 1 CR1 4

Complement component receptor 2 CR2 4

Complement component receptor 3 CR3 4

Complex

Complex II

Complex III

Complex III

Complex V MTATP6

Cone-rod homeobox-contaMing gene CRX 6

Coproporphyrinogen oxidase CPO 1

Core-binding factor, alpha 1 CBFAL 6

Core-bMdMg factor, alpha 2 CBFA2 6

Core-bindMg factor, beta CBFB 6

Corticosteroid bMding globulM CBG 5

Corticosteroid bMding protein 2

CorticotropMn-releasing hormone CRH 2

CorticotropMn-releasing hormone receptor CRHR1 2

Cortisol receptor 4

C-reactive protein CRP 4

Creatine Idnase - B and m CKBE 1

Creb bindMg protein CREBBP 6

Crystallin, alpha A CRYAA 3

Crystallin, alpha B CRYAB 3

Crystallin, beta B2 CRYBB2 3

Crystallin, gamma A CRYGA 3 c-src tyrosine kMase CSK 6

Cu2+ tiansporting ATPase alpha polypeptide ATP7A

Cu2+ transporting ATPase beta polypeptide ATP7B

Cyclic AMP response element binding protem CREB

Cyclic AMP-dependent protein kinase PKA

Cyclic nucleotide phosphodiesterase IB PDE1B

Cyclic nucleotide phosphodiesterase IBl PDE1B1

Cyclic nucleotide phosphodiesterase 2A3 PDE2A3

Cyclic nucleotide phosphodiesterase 3 A PDE3A

Cyclic nucleotide phosphodiesterase 3B PDE3B

Cyclic nucleotide phosphodiesterase 4A PDE4A

Cyclic nucleotide phosphodiesterase 4C PDE4C

Cyclic nucleotide phosphodiesterase 5A PDE5A

Cyclic nucleotide phosphodiesterase 6A PDE6A

Cyclic nucleotide phosphodiesterase 6B PDE6B Cyclic nucleotide phosphodiesterase 7 PDE7 1

Cyclic nucleotide phosphodiesterase 8 PDE8 1

Cyclic nucleotide phosphodiesterase 9A PDE9A . 1

Cyclm-dependent Idnase 2 CDK2 6

Cyclin-dependent Idnase MMbitor IC (P57, CDKNIC 6

KIP2)

Cyclin-dependent kMase MMbitor 2A (pl6) CDKN2A 6

Cyclooxygenase 1 COXl

Cyclooxygenase 2 COX2

CYPl lAl CYPl lAl

CYP11B1 CYP11B1

CYP11B2 CYP11B2

CYP17 CYP17

CYP19 CYP19

CYPIAI CYPIAI

CYP1A2 CYP1A2

CYP1B1 CYP1B1

CYP21 CYP21

CYP24 CYP24

CYP27 CYP27

CYP27B1 PDDR

CYP2A1 CYP2A1

CYP2A13 CYP2A13

CYP2A3 CYP2A3

CYP2A6V2 CYP2A6V2

CYP2A7 CYP2A7

CYP2B6 CYP2B6

CYP2C18 CYP2C18

CYP2C19 CYP2C19

CYP2C8 CYP2C8

CYP2C9 CYP2C9

CYP2D6 CYP2D6

CYP2E1 CYP2E1

CYP2F1 CYP2F1

CYP2J2 CYP2J2

CYP3A3 CYP3A3

CYP3A4 CYP3A4

CYP3A5 CYP3A5

CYP3A7 CYP3A7

CYP4A11 CYP4A11

CYP4B1 CYP4B1

CYP4F2 CYP4F2

CYP4F3 CYP4F3

CYP51 CYP51

CYP5A1 CYP5A1

CYP7A CYP7A

CYP8 CYP8 CystatMonase CTH 1

CystatMone beta synthase CBS 1

Cystic fibrosis transmembrane conductance CFTR 5 regulator, CFTR

Cystinosm CTNS 2

Cytidine deamMase CDA 1

Cytidine-5-prime-triphosphate synthetase CTPS 1

CytocMome a 1

CytocMome b-5 CYB5 1

CytocMome c 1

CytocMome c oxidase, MTCO 1

CytokMe-suppressive antiinflammatory drug- CSBPl 4 bmding protein 1

Cytokme-suppressive antiinflammatory drug- CSBP2 4 bindmg protein 2

DAXl nuclear receptor DAXl 4

Deafhess dystoma peptide DDP 5

Delta-4,5-alpha-reductase 1

Delta aminolevulMate dehydratase ALAD 1

Delta(4)-3 -oxosteroid 5-beta-reductase 1

Delta-7-dehydrocholesterol reductase DHCR7 1

Dentin sialophosphoprotein DSPP 6

Desmin DES 3

DHEA sulfotransferase STD 1

DiastropMc dysplasia sulfate transporter DTD . 2

Dihydrolipoamide dehydrogenase DLD 5

Dihydroxyacetonephosphate acyltransferase DHAPAT 1

DNA damage bMding proteM, DDBI DDBI 3

DNA damage binding protein, DDB2 DDB2 3

DNA methyltiansferase DNMT 1

DNA-damage-inducible transcript 3 DDIT3 3

DopamMe receptors Dl DRD1 5

Dopamine receptors D2 DRD2 5

Dopamine receptors D3 DRD3 5

Dopamine receptors D4 DRD4 5

Dopamine receptors D5 DRD5 5

Dynamin DNM1 6

DynorpMn receptor 5

DyskeMi DKC1 3

Dystoma 1 DYT1 3

Dystoma 3 DYT3 3

Dystoma 6 DYT6 3

Dystoma 7 DYT7 3

DystropMa myotomca DM, DMPK 1

DystropMa myotomca, atypical DM2 1

DystropMn DMD 3

DystiopMn-associated glycoprotem 35kD, SGCD 3 SCGD

DystiopMn-associated glycoprotem 35kD, SGCG 3

SGSG

DystiopMn-associated glycoproteM 43kD SGCB 3

DystiopMn-associated glycoproteM 50kD SGCA 3

Ectodermal Dysplasia 1 gene EDI 3

Elastase 1 ELAS1 1

Elastase 2 ELAS2 1

Elastin ELN 3

Electron-transfering-flavoprotein alpha ETFA 2

Electron-tiansfe ng-flavoprotein beta ETFB 2

Election-tiansferdng flavoprotem ETFDH 1 dehydrogenase

EmerM EMD 2

Endocardial fibroelastosis 2 gene EFE2 3

Endometrial bleeding-associated factor EBAF 6

Endothelm 1 EDN1 5

Endothelin 2 EDN2 5

Endothelin 3 ED 3 5

Endothelin converting enzyme ECE1 5

Endothelin receptor type A EDNRA 5

Endothelin receptor type 8 EDNRB 5

Engrailed-1 EN1 6

Engrailed-2 EN2 6

Enolase ENO1

Enoyl CoA hydratase

Enoyl CoA isomerase

Enoyl CoA reductase

Enterokinase PRSS7, ENTK

Ephrin receptor tyrosMe Idnase A EPHA 6

EpMin receptor tyrosine kMase B EPHB 6

Epidermal growth factor EGF 6

Epidermal growth factor receptor EGFR 6

ErytMocyte membrane protein band 4.1 EPB41 3

ErytMopoietin EPO 4

ErytMopoietin receptor EPOR 4

Estrogen receptor ESR 6

Exostosin 1 EXT1 3

Exostosin 2 EXT2 3

Exostosin 3 EXT3 3

Eye colour gene 3 (brown) EYCL3 3

Eyes absent 1 EYA1 6

Faciogemtal dysplasia FGDI, FGDY 2

Factor I (No. one) FI

Factor B, properdin

Factor D

Factor H HF1 Factor X F10

Fancom anemia, complementation group A FANCA 2

Fancom anemia, complementation group C FANCC 2

F ncom anemia, complementation group D FANCD 2

Fc fragment of IgG, Mgh affimty IA, receptor FCGR1A 6 for

Fc fragment of IgG, low affimty Ila, receptor FCGR2A 6 for (CD32)

Ferritin, H subimit 2

Ferritin, L subumt FTL 2

Fibrillin 1 FBN1 6

Fibrillin 2 FBN2 6

Fibrinogen alpha FGA 3

Fibrinogen beta FGB 3

Fibrinogen gamma FGG 3

Fibroblast growth factor FGF1 6

Fibroblast growth factor receptor 1 FGFR1 6

Fibroblast growth factor receptor 2 FGFR2 6

Fibroblast. growth factor receptor 3 FGFR3 6

Fibronectin precursor FN1 6

Flightless-II, DrosapMla homolog of FLII 6

Folic acid receptor FOLR 6

Follicle stimulating hormone receptor FSHR,ODGl 6

Follicle stimulating hormone, FSH FSHB 6

Forkhead transcription factor 10 FKHL10 6

Forkhead tianscription factor 14 FKHL14 6

Forkhead transcription factor 7 FKHL7 6

Fragile site, folic acid type, rare, frafX) A FRAXA 5

Frataxin FRDA 6

Fringe secreted proteM, lunatic LFNG 6

Fringe secreted protein, manic MFNG 6

Fringe secreted protein, radical RFNG 6

Fructose- 1 ,6-diphosphatase FBP1 1

Fucosidase alpha-L-1 FUCA1 1

Fucosidase alpha-L-2 1

Fukuyama type congemtal muscular FCMD 6 dystrophy

Fumarase FH 1

GABA receptor, alpha 1 GABRA1 5

GABA receptor, alpha 2 GABRA2 5

GABA receptor, alpha 3 GABRA3 5

GABA receptor, alpha 4 GABRA4 5

GABA receptor, alpha 5 GABRA5 5

GABA receptor, alpha 6 GABRA6 5

GABA receptor, beta 1 GABRB1 5

GABA receptor, beta 2 GABRB2 5

GABA receptor, beta 3 GABRB3 5 GABA receptor, gamma I GABRG1 5

GABA receptor, gamma 2 GABRG2 5

GABA receptor, gamma 3 GABRG3 5

Galactocerebrosidase GALC 1

GalactokMase GALK1 1

Galactose I -phosphate uridyl-transferase GALT 1

Gamma-glutamyl carboxylase GGCX 2

Gap junction protein alpha 3 GJA3 2

Gap junction protein alpha 8 GJA8 2

Gap junction protein beta 3 GJB3 2

Gastmlation bram homeobox 2 GBX2 6

Glucosidase, acid alpha GAA 1

Glucosidase, acid beta GBA 1

Glutamate receptor 1 GLUR1 5

Glutamate receptor 2 GLUR2 5

Glutamate receptor 3 GLUR3 5

Glutamate receptor 4 GLUR4 5

Glutamate receptor 5 GLUR5 5

Glutamate receptor 6 GLUR6 5

Glutamate receptor 7 GLUR7 5

Glutamate receptor, ionotropic, NMDA 1 NMDAR1 5

Glutamate receptor, ionotropic, NMDA 2A NMDAR2A 5

Glutamate receptor, ionotropic, NMDA 2B NMDAR2B 5

Glutamate receptor, ionotropic, NMDA 2C NMDAR2C 5

Glutamate receptor, ionotropic, NMDA 2D NMDAR2D 5

GlutatMone GSH 2

GlutatMone peroxidase, GPX1 GPX1 1

GlutatMone S-transferase, GSTZI GSTZI 1

Glyceraldehyde-3 -phosphate GAPDH 1 dehydrogenase, GAPDH

Glycerol kinase GK 1

Glycinamide ribonucleotide (GAR) GART 1 transformylase

Glycine receptor, alpha GLRA2 5

Glycine receptor, beta 5

Glycine tiansporter GLYT 5

Glycogen phosphorylase PYGL 1

Glycosyltiansferases, ABO blood group ABO 1

GM2 ganglioside activator protein, GM2A GM2A 1

Green cone pigment GCP 3

Growth arrest-specific homeobox GAX 6

Growth factor receptor-bound protein 2 GRB2 6

Growth hormone 1 GH1 6

Growth hormone 2 (placental) GH2 6

Growth hormone receptor GHR 6

Growth hormone releasMg hormone (GHRH) GHRH 6

Growth hormone releasmg hormone receptor GHRHR 6 Growth/differentiation factor 5 GDF5 6 GTP cylcohydrolase 1 GCH1 6 GTPase-activating protein, GAP RASAL 6 Guamdinoacetate N-methyltransferase GAMT 1 Guamne nucleotide-bMding proteM, alpha GNAO1 5 activating activity polypeptide, GNAO y

Guamne nucleotide-bMding protein, alpha GNAI1 5

MMbitMg activity polypeptide 1, GNA[L

Guamne nucleotide-binding protein, alpha GNAI2 5 inMbiting activity polypeptide 2, GNA 2

Guamne nucleotide-bindMg proteM, alpha GNAI3 5

MMbit g activity polypeptide 3, GNA[3

Guamne nucleotide-binding protein, alpha GNAS1 5 stimulating activity polypeptide, GNAS I

Guamne nucleotide-binding protein, alpha GNAS2 5 stimulating activity polypeptide, GNAS2

Guamne nucleotide-binding protein, alpha GNAS3 5 stimulating activity polypeptide, GNAS3

Guamne nucleotide-bmding protein, alpha GNAS4 5 stimulating activity polypeptide, GNAS4

Guamne nucleotide-binding protein, alpha GNATI 5 transducing activity polypeptide, GNATI

Guamne nucleotide-bindMg protein, alpha GNAT2 5 transducing activity polypeptide, GNAT2

Guamne nucleotide-binding protein, beta GNB3 5 polypeptide 3

Guamne nucleotide-bMding protem, gamma GNG5 5 polypeptide 5

Guamne nucleotide-binding protein, q GNAQ 5 polypeptide

Guanylate cyclase 2D, membrane (retina- GUCY2D 1 specific)

Guanylate cyclase activator 1A (retina) GUCALA 1

H(+), K(+) - ATPase ATP4B 5

Haeme regulated inMbitor kinase 1

Haemoglobm alpha I HBAL 2

Haemoglobin alpha 2 HBA2 2

Haemoglobin beta HBB 2

Haemoglobm delta HBD 2

Haemoglobin gamma A HBG1 2

HaemoglobM gamma B HBG2 2

Haemoglobm gamma G HBGG 2

Hairless HR 6

Heat shock protein, HSP60 4

Heat shock proteM, HSP70 4

Heat shock proteM, HSP90 4 ^•ςj- ' i— i O -f- O C i— i i— ι in m m 't VO VO VO VO VO VO VO VO VO VO VO VO VO VO VO VO VO VO VO VO VO VO VO VO VO VO VO VO VO VO VO VO o ω

Q H U α.

Homeobox (HOX) gene D12 HOXD12 6

Homeobox (HOX) gene D13 HOXD13 6

Homeobox (HOX) gene D3 HOXD3 6

Homeobox (HOX) gene D4 HOXD4 6

Homeobox (HOX) gene D8 HOXD8 6

Homeobox (HOX) gene D9 HOXD9 6

Homeobox 11 HOX11 6

Homeobox HB24 HLX1 6

Homeobox HB9 HLXB9 6

Homeobox, PROX1 PROX1 6

Homogentisate 1,2 dioxygenase HGD 1

Human placental lactogen CSH1 6

Hypoxia inducible factor 1 HIF1A 1

Hypoxia inducible factor 2 1

IC7 A and B 4

ImmunoglobulM E (IgE) reponsiveness gene IGER 4

Indian hedgehog, ihh IHH 6

InMbin, alpha INHA 6

InMbm, beta A INHBA 6

InMbin, beta B INHBB 6

InMbin, beta C INHBC 6

Inositol 1,4,5-tiiphosphate receptor 3 ITPR3 6

Insulin promotor factor 1 IPF1 6

Insulin-like growth factor 1 IGF1 6

Insulin-like growth factor 1 receptor IGF 6

InsulM-like growth factor 2 IGF2 6

InsulM-like growth factor 2 receptor IGF2R 6

Mtegrin beta 1 ITGBL 6

Integrin beta 3 ITGB3 6

Integrin beta 4 ITGB4 6

Mtegrin, alpha 5 ITGA5 6

Integrin, alpha 7 ITGA7 6

Inter-alpha-trypsin inMbitor, IATI 1

Mterferon alpha IFNA1 4

Interferon beta IFNB 4

Mterferon gamma IFNG 4

Mterferon gamma receptor 1 IFNGR1 4

Interferon gamma receptor 2 IFNGR2 4

Interferon regulatory factor 1 IRF1 4

Mterferon regulatory factor 4 IRF4 4

Mterleukin(IL) 1 receptor IL1R 4

Interleukin(IL) 1, alpha IL1A 4

Mterleukin(IL) 1, beta IL1B 4 lnterleukM(IL) 10 IL10 4

MterieukMQL) 10 receptor IL10R 4

Mterleukin(IL) ll IL11 4

MterieukMQL) 11 receptor IL11R 4 MterieukMQL) 12 IL12 4

MterieukMQL) 12 receptor, beta 1 IL12RB1 4

InterleukMQL) 13 IL13 4

MterleukinQL) 13 receptor IL13R 4

MterleukinQL) 2 IL2 4

MterleukinQL) 2 receptor, alpha IL2RA 4

InterleukM(IL) 2 receptor, gamma IL2RG 4

InterleukinQL) 3 IL3 4

InterleukMQL) 3 receptor IL3R 4.

InterleukinQL) 4 IL4 4

MterieukMQL) 4 receptor IL4R 4

MterieukMQL) 5 IL5 4

InterleukinQL) 5 receptor IL5R 4

InterleukinQL) 6 IL6 4

InterleukMQL) 6 receptor IL6R 4

InterleukinQL) 7 IL7 4

MterleukinQL) 7 receptor IL7R 4

MterleukinQL) 8 IL8 4

InterleukinQL) 8 receptor IL8R 4

Mterleukin(IL) 9 IL9 4

InterleukinQL) 9 receptor IL9R 4

MterieukMQL) receptor antagomst I 1L1RN, IL1RA 4 lsocitrate dehydrogenase 1

Kaliman sypdrome gene 1 KALI 6

Keratin 1 KRT1 3

Keratin 10 KRT10 3

Keratin 11 KRT11 3

Keratin 12 KRT12 3

Keratin 13 KRT13 3

Keratin 14 KRT14 3

Keratin 15 KRTI 5 3

Keratin 16 KRT16 3

Keratin 17 KRT17,PCHC1 3

Keratin 18 KRT18 3

Keratin 2 KRT2 3

Keratin 3 KRT3 3

Keratin 4 KRT4 3

Keratin 5 KRT5 3

Keratin 6 KRT6 3

Keratin 7 KRT7 3

Keratin 8 KRT8 3

Keratin 9 KRT9 3

Keratin, hair acidic 1 KRTHA1 3

Keratin, hair basic 2 KRTHB1 3

Keratin, hair basic 6 KRTHB6 3

Kimnogen, High molecular weight KNG 4

Lactate dehydrogenase, A LDHA 1 Lactate dehydrogenase, B LDHB 1

Lamin A/C LMNA 6

Lamimn 5, alpha 3 LAMA3 6

Lamimn 5, beta 3 LAMB3 6

LamMM 5, gamma 2 LAMC2 6

LaminM M LAMM 6

LamM receptor 1 LAMRI 6

Latent tiansforming growth factor-beta LTBP2 6 bindMg protein 2

Leukocyte-specific transcript 1 LST- 1 4

Leukotriene A4 hydrolase 4

Leukotriene A4 synthase LTA4S 1

Leukotriene B4 receptor 4

Leukotriene B4 synthase LTB4S 1

Leukotriene C4 receptor 4

Leukotriene C4 synthase LTC4S 1

LIM homeobox transcription factor 1, beta LMX1B 6

Limb girdle muscular dystiophy 1 A LGMD1A 6

Limb girdle muscular dystiophy IB LGMD1B 6

Limb girdle muscular dystrophy 2G LGMD2G 6

Limb girdle muscular dystrophy 2H LGMD2H 6

Limbic associated membrane protem LAMP 6

Lipoprotein receptor, Low Density LDLR 2

Lipoxygenase 12 (platelets) LOG12 4

Loricrin LOR 3

Low density lipoprotein receptor-related LRP 2 proteM precursor

Luteimzing hormone-releasing hormone 5

Lutemizing hormone-releasMg hormone 5 receptor

Lymphotoxin 4

Lysosome-associated membrane protein 1 LAMP1 6

Lysosome-associated membrane proteM 2 LAMP2 6

Lysozyme LYZ 4

Lysyl hydroxylase PLOD 1

Lysyl oxidase LOX 1

Macrophage activating factor MAF 4

Macrophage inflammatory protein- 1 MIP1 4

Macrophage mflammatory protein- 1 receptor 4

Macrophage mflammatory proteM-2 MIP2 4

Macrophage inflammatory protein-2 receptor 4

MADS box transcription-enhancer factor 2A MEF2A 6

MADS box transcription-enhancer factor 2B MEF2B 6

MADS box transcription-enhancer factor 2C MEF2C 6

MADS box tianscription-enhancer factor 2D MEF2D 6

Mannose bMdMg protem MBP 4

Mannosidase, alpha B lysosomal MANB 1 Mannosidase, beta A lysosomal MANBA 1

Marenostrin MEFV 2

Matrix Gla proteM MGP 6

Matrix metalloproteinase 1 MMP1

Matrix metalloproteinase 10 MMP10

Matrix metalloproteinase 11 MMP11

Matrix metalloprotemase 12 MMP12

Matrix metalloproteMase 13 MMP13

Matiix metalloproteinase 14 MMP14

Matiix metalloproteinase 15 MMPI 5

Matiix metalloproteinase 16 MMP16

Matiix metalloproteinase 17 MP17

Matrix metalloproteinase 18 MMP18

Matrix metalloproteinase 19 MMP19

Matrix metalloproteMase 2 MMP2

Matrix metalloproteinase 3 MMP3, STMYJ

Matiix metalloproteinase 4 MMP4

Matiix metalloproteinase 5 MMP5

Matrix metalloproteinase 6 MMP6

Matrix metalloproteinase 7 MMP7

Matrix metalloproteMase 8 MMP8

Matrix metalloproteMase 9 MMP9

MEK kinase, MEKK

Melanocortin 1 receptor MC1R 2

Melanocortin 2 receptor MC2R 2

Melanocortin 4 receptor MC4R 2

Mesoderm-specific transcript MEST 6

MethylguanMe-DNA methyltiansferase MGMT 1

Methylmalonyl-CoA mutase MUT 1

Mevalonate Idnase MVK 1

MHC Class 1: A 4

MHC Class 1: B 4

MHC Class 1: C 4

MHC Class 1: LMP-2, LMP-7 4

MHC Class l: Taρl ABCR, TAP1 4

MHC Class II: DP HLA-DPB1 4

MHC Class II: DQ 4

MHC Class II: DR 4

MHC Class II: Tap2 TAP2,PSF2 4

MHC Class IL.Complementation group A MHC2TA 4

MHC Class ILComplementation group B RFXANK 4

MHC Class ILComplementation group C RFX5 4

MHC Class ILComplementation group D RFXAP 4

Microphthalmia-associated transcription MITF 6 factor

Midline 1 MIDI 6

Mitochondrial trifunctional proteM, alpha HADHA 1 subimit

Mitochondrial trifunctional protem, beta HADHB 1 subumt

Moesin, MSN 3

Molybdenum cofactor synthesis 1 MOCS1 1

Molybdenum cofactor synthesis 2 MOCS2 1

Monoamine oxidase A MAOA 1

MonoamMe oxidase B MAOB 1

Monocyte chemoattractant protem 1 MCP1 4

Mucolipidoses GNPTA 1

Mulibrey na sm MUL 2

Muscarimc receptor, Ml CHRM1 5

Muscarimc receptor, M2 CHRM2 5

Muscarimc receptor, M3 CHRM3 5

Muscarimc receptor, M4 CHRM4 5

Muscarimc receptor, M5 CHRM5 5

Muscle phosphoylase PYGM 1

Mutated in colorectal cancers, MCC MCC 6

MutS homolog 3 MSH3 6

Myeloperoxidase MPO 4

Myocilin MYOC 2

Myogemc factor 3 MYF3 6

Myogemc factor 4 MYF4 6

Myogemc factor 5 MYF5 6

Myoglobin 2

Myomesin 1 MYOM1 3

Myomesin 2 MYOM2 3

Myopia 1 MYP1 2

Myopia 2 MYP2 2

Myosin 15 MYO15 3

Myosin 5A MYO5A 3

Myosin 6 MYO6 3

Myosin 7A MYO7A 3

Myosin, cardiac MYH7 3

Myosin, light chain 2 MYL2 3

Myosin, light cha 3 MYL3 3

Myotabuladn MTM1 3

Na+, K+ ATPase, alpha ATP 1 AI 6

Na+, K+ ATPase, beta 1 ATP1B1 6

Na+, K+ ATPase, beta 2 ATP1B2 6

Na+, K+ ATPase, beta 3 ATP1B3 6

Na+ H+ exchanger 1 NHEI 2

Na+/H+ exchanger 2 NHE2 2

Na+/H+ exchanger 3 NHE3 2

Na+/H+ exchanger 4 NHE4 2

Na+/H+ exchanger 5 NHE5 2

N-acetylgalactosarnMe-6-sulfate sιιlfatase GALNS 1 N-acetylglucosamMe-6-suffatase GNS 1

N-acetylglucosamimdase, alpha NAGLU 1

NADH dehydrogenase 1

NADH-cytocMome b5 reductase DIA1 1 reductase

NB6 4

Nebulin EB 3

NepMosis 1 NPHS1 2

Neural retina-specific gene NRL 6

Neuramimdase sialidase NEU 2

Neuregulm HGL 6

NeurexM 5

Neuroendocrine convertase 1 NEC1, PCSK1 1

Neurokimn A NKNA 5

Neurokimn B NKNB 5

Neuropeptide Y NPY 5

Neuropeptide Y receptor Yl NPY1R 5

Neuropeptide Y receptor Y2 NPY2R 5

Neurotensm NTS 5

NeurotensM receptor NTSR1 5

NIMM NBS1 6

Noggin NOG 6

Notch ligand - jagged 1 JAG 1, AGS 6

Nuclear factor 1-kappa-B-like gene IKBL 4

Nuclear factor kappa beta NFKB 4

Nuclear factor of activated T cells (NFAT) NFATC 6 complex, cytosolic

Nuclear factor of activated T cells (NFAT) NFATP 6 complex, preexisting component

Ocular albimsm 1 OA1 3

Oculocutaneous albimsm 11 OCA2 3

Oncogene ERG (early reponse gene) 6

Oncogene fos FOS 6

Oncogene GLI1 GLI 6

Oncogene GLI2 GLI2 6

Oncogene GLI3 GLI3 6

Oncogene sis PDGFB 6

Oncogene src 6

Opioid receptor, delta OPRD1 5

Opioid receptor, kappa OPRK1 5

Opioid receptor, mu OPRM1 5

OmitMne delta-aminotiansferase OAT 1

Osteocalcin 3

Osteonectin ON 6

Osteopontin OPN 6

Osteoprotegerin OPG 6

Oxytocm OXT 5 OxytocM receptor OXTR 5 p21-activated Idnase 3 PAK3 6

Paired box homeotic gene 1 PAX1 6

Paired box homeotic gene 2 PAX2 6

Paired box homeotic gene 3 PAX3 6

Paired box homeotic gene 6 PAX6 6

Paired box homeotic gene 7 PAX7 6

Paired box homeotic gene 8 PAX8 6

Paired-like homeodomain tianscription factor PITX2 6

2

Paired-like homeodomain tianscription factor PITX3 6

3

Parathyroid hormone PTH 6

Parathyroid hormone receptor PTHR1 6

Parathyroid hormone related-peptide PTHRP 6

Parathyroid hormone-like hormone PTHLH 6

Patched (DrosopMla) homolog, PTCH PTCH 6

Peanut-like 1 PNUTLl 4

Peripherin, PRPH 3

Peroxisomal membrane protein 1 PXMPl 3

Peroxisoma membrane protein 3 PXMP3 2

Peroxisome biogenesis factor 1 PEXl 2

Peroxisome biogenesis factor 19 PEX19 2

Peroxisome biogenesis factor 6 PEX6 2

Peroxisome biogenesis factor 7 PEX7 2

Peroxisome receptor 1 PXR1 2

PhenylethanolamineN-methyltransferase, PNMT 1

PNMT

Phosphate regulating gene with homologies PHEX 6 to endopeptidases on the X cMomosome

Phosphodiesterase 1 / nucleotide PDNPl 6 pyrophosphatase 1

Phosphodiesterase 1 / nucleotide PDNP2 6 pyrophosphatase 2

Phosphodiesterase 1 / nucleotide PDNP3 6 pyrophosphatase 3

Phosphofructokinase, muscle PFKM 1

Phosphoglucose isomerase GPI 1

Phosphoglycerate kinase 1 PGK1 1

Phosphoglycerate mutase 2 PGAM2 1

Phospholipase A2, group 10 PLA2G10 4

Phospholipase A2, group IB PLA2G1B

Phospholipase A2, group 2A PLA2G2A

Phospholipase A2, group 2B PLA2G2B 4

Phospholipase A2, group 4A PG4A 4

Phospholipase A2, group 4C P 2G4C 4

Phospholipase A2, group 5 PLA2G5 4 Phospholipase A2, group 6 PLA2G6 4

Phosphomannomutase 2 PMM2 6

Phosphoribosyl pyrophosphate synthetase PRPS1 1

Phosphorylase Idnase, alpha 1 (muscle) PHKA1 1

Phosphorylase Idnase, beta PHKB 1

Phosphorylase Idnase, delta 1

Phosphorylase Idnase, gamma 2 PHKG2 1

Phytanoyi-CoA hydroxylase PHYH 6

Pineolytic beta-receptors 1

PlakopMIM 1 PKP1 2

Plasminogen PLG 1

Platelet derived growth factor PDGF 6

Platelet derived growth factor receptor PDGFR 6

Plectin 1 PLEC1 2

Potassium mwardly-rectifying channel Jl KCNJ1 5

Potassium voltage-gated channel El KCNE1 5

Potassium voltage-gated channel Ql KCNQl 5

Potassium voltage-gated channel Q2 KCNQ2 5

Potassium voltage-gated channel Q3 KCN03 5

POU domaM, class 3, tianscription factor 4 POU3F4 6

POU domain, class 4, transcription factor 3 POU4F3 6

Prion protein PRNP 5

Procollagen N-protease 1

Procollagen peptidase 1

ProdynorpMn 5

Profibrinolysm 6

Prolactin receptor PRLR 6

Prolactin releasing hormone PRH 6

Proliferin PLF 6

Proopiomelanocortin POMC 5

Properdin P factor, complement PFC, PFD 4

Prophet of Pitl PROP1 6

Propionyl-CoA carboxylase, alpha PCCA 1

Prosaposin PSAP 5

Prostacyclin synthase 4

Prostaglandin 15-OH dehydrogenase HGPD;PGDH 4

Prostaglandin D - DP receptor 4

Prostaglandin El receptor 4

ProstagiandM E2 receptor 4

Prostaglandin E3 receptor 4

Prostaglandin F - FP receptor 4

Prostaglandm F2 alpha receptor 4

Prostaglandin 12 receptor 2

ProstagiandM IP receptor 4

Prostaglandm isomerase 6

Protease nexM 2 PN2 1

Protective protein for beta-galactosidase PPGB 1 ProteM C PROC 4

Proteinase 3 4

Purine nucieoside phosphorylase NP 1

Purinergic receptor P1A1 5

Purinergic receptor Pl A2 5

Purinergic receptor Pl A3 5

Purinergic receptor P2X, 1 P2RX1 5

Purinergic receptor P2X, 2 P2RX2 5

Purinergic receptor P2X, 3 P2RX3 5

Pudnergic receptor P2X, 4 P2RX4 5

Purinergic receptor P2X, 5 P2RX5 5

Purinergic receptor P2X, 6 P2RX6 5

Purinergic receptor P2X, 7 P2RX7 5

Purinergic receptor P2Y, 1 P2RY1 5

Purinergic receptor P2Y, 11 P2RY11 5

Pu nergic receptor P2Y, 2 P2RY2 5

Pynoline-5-carboxylate synthetase PYCS 1

Pyruvate Idnase PKLR 1

RabpMlin 5

Radixin RDX 3

RAS-associated protein, RAB3 A RAB3A 5

Rathke pouch homeobox, RPX RPX 6

Receptor tyrosMe kinase (RTK), NSK2 NSK2 6

Retina pigment epithelium specific protein RPE65 3

(65kD)

Retimtis pigmentosa gene 1 RP1 3

Retimtis pigmentosa gene 2 RP2 3

Retimtis pigmentosa gene 3 RP3 3

Retmitis pigmentosa gene 6 RP6 3

Retimtis pigmentosa gene 7 RP7, RDS 3

Retinoblastoma 1 RB1 6

Retinoic acid receptor, alpha RARA 6

Retinoic acid receptor, beta RARB 6

Retinoic acid receptor, gamma RARG 6

Retinoid X receptor, alpha RXRA 6

Retinoid X receptor, beta RXRB 6

Retinoid X receptor, gamma RXRG 6

Retinol binding protein 4 RBP4 2

Rhodopsm RHO 3

RIGUI RIGUI 6

Rim 5

Rod outer segment membrane protein 1 ROM1 3

Ryanodine receptor 1, skeletal RYR1 6

Serotomn N-acetyltransferase SNAT 1

Serotomn receptor, 5HT1 A HTR1A 5

Serotomn receptor, 5HT1B HTRI1B 5

SerotonM receptor, 5HT1C HTR1C 5 Serotomn receptor, 5HT1D HTR1D 5

SerotonM receptor, 5HT1E HTR1E 5

SerotonM receptor, 5HT1F HTR1F 5

Serotomn receptor, 5HT2A HTR2A 5

SerotonM receptor, 5HT2B HTR2B 5

Serotomn receptor, 5HT2C HTR2C 5

SerotonM receptor, 5HT3 HTR3 5

Serotomn receptor, 5HT4 HTR4 5

Serotomn receptor, 5HT5 HTR5 5

Serotomn receptor, 5HT6 HTR6 5

SerotonM receptor, 5HT7 HTR7 5

Sex hormone bMding globulin, SHBG 2

Sialoprotein, bone BSP 6

Signal transducer and activator of STAT1 6 tianscription 1

Signaimg lymphocyte activation molecule SLAM 4

Sine oculis homeobox, drosopMla, homolog 1 SLX1 6

Sine oculis homeobox, drosopMla, homolog 2 SIX2 6

Sine oculis homeobox, drosopMla, homolog 5 SIX5 3

Sjoegren (Sjogren) syndrome antigen AI SSAl 4

Slug protein 6

Small nuclear ribonucleoproteM polypeptide SNRPN 3

N

Smoothelin SMTN 6

Smoothened (DrosopMla) homolog SMOH 6

Sodium channel, non-vo tage gated 1, alpha SCNNIA 5

Sodium channel, non-voltage gated 1, beta SCNNIB 5

Sodium channel, non-voltage gated 1, SCNNIG 5 gamma

Sodium channel, voltage gated, type IV, SCN4A 5 alpha polypeptide

Sodium channel, voltage gated, type V, alpha SCN5A 5 polypeptide

Sodium channel, voltage-gated, type 1, beta SCN1B 5 polypeptide

Solute carrier family 1 (glutamate SLC1A1 2 transporter), member 1

Solute carrier family 1 (glutamate SLC1A2 2 tiansporter), member 2

Solute carrier family 12, member 1 SLC12A1 2

Solute carrier family 12, member 2 SLC12A2 2

Solute carrier family 12, member 3 SLC12A3 2

Solute carrier family 16 (monocarboxylate SLC16A1 2 transporter), member 1

Solute carrier family 16 (monocarboxylate SLC16A7 2 transporter), member 7

Solute carrier family 17, member 1 SLC17A1 2 Solute carrier family 17, member 2 SLC17A2 2

Solute carder family 19 (folate transporter), SLC19A1 2 member 1

Solute carrier family 21, member 2 SLC21A2 2

Solute carrier family 21, member 3 SLC21A3 2

Solute carrier family 25, member 12 SLC25A12 2

Solute carrier family 6 (GAMMA- SLC6A1 2

AMINOBUTYRIC ACID transporter), member

1

Solute carrier family 6 (neurotiansmifter SLC6A3 2 transporter, dopamMe), member 3

Solute carrier family 6 (neurotiansmifter SLC6A2 2 tiansporter, noradrenaline), member 2

Solute carrier family 6, member IO SLC6A10 2

Solute carrier family 6, member 8 SLC6A8 2

Solute carrier family 7(amino acid SLC7A1 2 transporter), member 1

Solute carrier family 7(amMo acid SLC7A2 2 transpo er), member 2

Solute carrier family 7(amino acid SLC7A7 2 transporter), member 7

Solute carrier family 8 (sodium/calcium SLC8A1 2 exchanger), member 1

Somatostatin SST 5

Somatostatin receptor, SSTRl SSTRl 5

Somatostatin receptor, SSTR2 SSTR2 6

Somatostatin receptor, SSTR3 SSTR3 5

Somatostatin receptor, SSTR4 SSTR4 5

Somatostatin receptor, SSTR5 SSTR5 5

Somc hedgehog, SHH SHH 6

Sorbitol dehydrogenase SORD 1

Sorcin SRI 2

Spectrin alpha SPTA1 3

Spectrin beta SPTB 3

Sperm adhesion molecule SPAM1 6

Sperm prolamine Pl PRMl 6

Sperm prolamine P2 PRM2 6

SpMngomyelMase SMPDl 1

Split hand/foot malformation gene DSS1 6

SRY-box 10 SOX10 6

SRY-box 11 SOXl l 6

SRY-box 3 SOX3 6

SRY-box 4 SOX4 6

SRY-box 9 SOX9 6

Steroid 5 alpha reductase 1 SRD5A1 1

Steroid 5 alpha reductase 2 SRD5A2 1

Steroid sulphatase STS 1 Substance P 5

Succmate dehydrogenase 1 SDH1 1

Succinate dehydrogenase 2 SDH2 1

Sulfamidase SGSH 6

Superoxide dismutase 1 SODl 1

Superoxide dismutase 3 SOD3 1

Survival of motor neuron 1, telomeric SMN1 2

Synapsin I a & I b SYN1 5

SynapsM 2a & 2b SYN2 5

Synaptic vesicle proteM 2 SV2 5

SynaptobrevM 1 SYB1 5

Synaptobrevm 2 SYB2 5

Synaptogyrin 5

Synaptophysin SYP 5

Synaptosomal-associated protein, 25KD SNAP25 5

Synaptotagmin 1 SYT1 5

Synaptotagmin 2 SYT2 5

Synovial sarcoma gene 1 SSX1 6

Synovial sarcoma gene 2 SSX2 6

Syntaxin 1 STX1 5

TachykinM receptor, NK1R TACR1 5

Tachykimn receptor, NK2R TACR2 5

TachykinM receptor, NK3R TACR3 5

Talin, TLN 3

T-BOX 1 TBX1 6

T-BOX 2 TBX2 6

T-BOX 3 TBX3 6

T-BOX 4 TBX4 6

T-BOX 5 TBX5 6

T-BOX 6 TBX6 6

TEK, tyrosme kinase, endothelial TEK 1

Telomerase protein component 1

Tetranectin TNA 2

TMombospondin THBSl 6

TMomboxane A synthase 1 TBXASl 4

TMomboxane A2 TXA2 4

TMomboxane A2 receptor TBXA2R 4

Thymosin 4

Thyrotropin releasing hormone TRH 5

Thyrotropin releasing hormone TRH 6

Thyrotropin releasing hormone receptor TRHR 5

Tip-associated protein TAP 4

Tissue non-specific alkalme phosphatase 1

TNSAP

Titin TTN 3

Tocopherol (alpha) transfer proteM TTPA 2

Torticollis, keloids, cryptorcMdism and renal TKCR 6 dysplasia gene

Transforming growth factor, alpha TGFA 6

TransformMg growth factor, beta 2 TGFB2 6

TransformMg growth factor, beta Mduced TGFBI 6

Transforming growth factor, beta receptor 2 TGFBR2 6

Transglutaminase 1 TGM1 6

Transglutaminase 2 TGM2 6

Transglutaminase 4 TGM4 6

Transthyretin TTR 2

Treacle gene TCOF1 6

Triosephosphate isomerase TPI 1 1

Tropomyosin 1 alpha TPM1 3

TropomyosM 3 (non-muscle) TPM3 3

Tropomn C 3

Tropomn I TNNI3 3

Tropomn T2, cardiac TNNT2 3

Tryypsinogen 1 TRYI 1

Tryps ogen 2 TRY2 1

Tubby-like protein TULP1 6

Tuberous sclerosis 1 TSC1 6

Tuberous sclerosis 2 TSC2 6

Tumor susceptibility gene 101 TSG101 6

Tumour necrosis factor (TNF) receptor TRAF1 4 associated factor 1

Tumour necrosis factor (TNF) receptor TRAF2 associated factor 2

Tumour necrosis factor (TNF) receptor TRAF3 associated factor 3

Tumour necrosis factor (TNF) receptor TRAF4 associated factor 4

Tumour necrosis factor (TNF) receptor TRAF5 4 associated factor 5

Tumour necrosis factor (TNF) receptor TRAF6 4 associated factor 6

Tumour necrosis factor alpha TNFA 4

Tumour necrosis factor alpha receptor TNFAR 4

Tumour necrosis factor beta TNFB 4

Tumour necrosis factor beta receptor TNFBR 4

Tumour protein p53 TP53,P53 6

Tumour protem p63 TP63 6

Tumour protem p73 TP73 6

Tumour proteM, tianslationally-contiolled 1 TPT1 6

Tumour suppresssor gene DRA DRA 4

Tyrosinase TYR 1

Tyrosinase-related proteM 1 TYRP1 1

TyrosMe aminotransferase TAT 1 Ubiqmtin activating enzyme, El 1

Ubiquitin proteM ligase E3 A UBE3A 1

Uncoupling protem 3 UCP3 2

UndulM 1 COL14AI 3

Uroporphyrinogen decarboxylase UROD 1

Usher syndrome 2A USH2A 3

Vacuolar proton pump, subimit 1 VPP1 5

Vacuolar proton pump, subimit 3 VPP3 5

Vascular endothelial growth factor VEGF 6

Vasoactive mtestinal polypeptide VIP 5

Vasoactive intestinal polypeptide receptor VIPR 5

Villin 3

Vinculin 3

Vitamin D receptor VDR 6

Vitelliform macular dystrophy, atypical gene VMD1 2

Von Hippel-Lindau gene VHL 6

Von Willebrand factor VWF 2

Werner syndrome helicase WRN 6

Wmged helix nude WHN 6

Wingless family, wnt2 WNT2 6

Wingless family, wnt4 WNT4 6

Wingless family, wnt5 WNT5 6

WMgless fami y, wnt7 WNT7 6

Wingless family, wnt8 WNT8 6

Wiskoft-Aldrich syndrome protem WASP, THC 4

Wnt MMbitory factor, WTF-1 WIF1 6

Wolf-Hirschhom syndrome candidate 1 gene WHSCl 6

Wolfram syndrome 1 gene WFSl 3

Xeroderma pigmentosum, complementation XPA group A

Xeroderma pigmentosum, complementation XPB group B

Xeroderma pigmentosum, complementation XPC group C .

Xeroderma pigmentosum, complementation group D

Xeroderma pigmentosum, complementation group E

Xeroderma pigmentosum, complementation XPF group F

Xeroderma pigmentosum, complementation ERCC5 group G

X-ray repair gene XRCC9 dass die mit endokriner und metabolischer FeMftmktion, Schädigung oder Erlcrankung m Zusammenhang stehenden Gene ausgewäMt smd aus:

Liste der Gene HUGO ProteM-

Gensymbol funktion

17beta Hydroxysteroid dehydrogenase 1 HSD17B1

17beta Hydroxysteroid dehydragenase 3 HSD17B3

17beta Hydroxysteroid dehydrogenase 4 HSD17B4

17beta Hydroxysteroid oxidoreductase

17-Ketosteroid reductase

18-Hydroxysteroid oxidoreductase

2,3-Bisphosphoglycerate mutase BPGM

2,4-Dienoyl CoA reductase DECR

3 beta Hydroxysteroid dehydrogenase 2 HSD3B2

3-Oxoacid CoA tiansferase OXCT

5-Adenosyl homocysteine hydrolase

6-Phosphofructo-2-kinase PFKFBL

6-Pyravoyltetiahydropterin synthase PTS

Acetoacetyl 1-CoA-tMolase ACATl

Acetyl CoA acyltransferase ACAA

Acetyl CoA carboxylase ACC

Acetyl CoA carboxylase alpha ACACA

Acetylcholinesterase ACHE

Acid phosphatase 2, lysosomal ACP2

Actin, alpha, cardiac ACTC 3

Actin, alpha, skeletal ACTA1 3

Actin, alpha, smooth, aortic ACTA2 3

Activin 6

Activin A receptor, type 2B ACVR2B 6

Activin A receptor, type 2-like Idnase 1 ACVRL1 6

Acyl CoA dehydrogenase, long chaM ACADL 1

Acyl CoA dehydrogenase, medium chain ACADM 1

Acyl CoA dehydrogenase, short chain ACADS 1

Acyl CoA dehydrogenase, very long chain ACADVL 1

Acyl CoA synthetase, long chaM, 1 LACS1 1

Acyl CoA synthetase, long chaM, 2 LACS2 1

Acyl CoA synthetase, long chain, 4 ACS4 1

Acyl malonyl condensmg enzyme 1

Adenomatous polyposis coli tiimour APC 6 supressor gene

AdenosMe deaπώiase ADA 1

Adenosme monophosphate deaπtinase AMPD 1

Adenosine receptor AI ADORA1 5

AdenosMe receptor A2A ADORA2A 5

AdenosMe receptor A28 ADORA2B 5 Adenosine receptor A3 ADORA3 5

Adenyl cyclase 5

Adenylate cyclase 1 ADCY1

Adenylate cyclase 2 ADCY2

Adenylate cyclase 3 ADCY3

Adenylate cyclase 4 ADCY4

Adenylate cyclase 5 ADCY5

Adenylate cyclase 6 ADCY6

Adenylate cyclase 7 ADCY7

Adenylate cyclase 8 ADCY8

Adenylate cyclase 9 ADCY9

Adenylate tiansferase

ADP-ribosyltransferase ADPRT

Adrenergic receptor, alphal ADRA1 5

Adrenergic receptor, alpha2 ADRA2 5

Adrenergic receptor, betal ADRB1 5

Adrenergic receptor, beta2 ADRB2 5

Adrenergic receptor, beta3 ADRB3 5

Adrenoleukodystrophy gene ALD 1

Albumin, ALB ALB 2

Alcohol dehydrogenase ADH 1

Alcohol dehydrogenase 2 ADH2 1

Alcohol dehydrogenase 3 ADH3 1

Alcohol dehydrogenase 4 ADH4 1

Alcohol dehydrogenase 5 ADH5 1

Alcohol dehydrogenase 6 ADH6 1

Alcohol dehydrogenase 7 ADH7 1

Aldehyde dehydrogenase 1 ALDH1 1

Aldehyde dehydrogehase 10 ALDH10 1

Aldehyde dehydrogenase 2 ALDH2 1

Aldehyde dehydrogenase 5 ALDH5 1

Aldehyde dehydrogenase 6 ALDH6 1

Aldehyde dehydrogenase 7 ALDH7 1

Aldolase A ALDOA 1

Aldolase B ALDOB 1

Aldolase C ALDOC 1

Aldosterone receptor MLR 6

Alkaline phosphatase, liver/bone/kidney ALPL 2

Alkylglycerone phosphate synthase AGPS 1

Alpha 1 acid glycoproteM AAG; AGP 2 alphal -antitrypsin Pl 1 alpha-actimn 2 ACTN2 6 alpha-actimn 3 ACTN3 6 alpha-amino adipic semialdehyde synthase 1 alpha-glucosidase, neutral AB GANAB 1 alpha-glucosidase, neutral C GANC 1 alpha-ketoglutarate dehydrogenase 1 Aminomethyltransferase AMT 1

AmMopeptidase P XPNPEP2 1

AmpMregulM AREG 6

Amylo-l,6-glucosidase AGL 1

Androgen receptor AR 6

Angiopoietin 1 ANGPT1 6

Angiopoietin 2 ANGPT2 6

AngiotensM converting enzyme ACE,DCPL 1

AngiotensM receptor 1 AGTR1 2

Angiotensin receptor 2 AGTR2 2

Anglotensinogen AGT 1

Anti-Multerian, hormone AMH 6

Anti-Mullerian hormone type 2 receptor AMHR2 6

Apolipoprotein A I APOA1 2

Apolipoprotein A II APOA2 2

Apolipoprotein B APOB 2

Apolipoprotein Cl APOC1 2

Apolipoprotein C2 APOC2 2

Apolipoprotein C3 APOC3 2

Apolipoprotein D APOD 2

Apolipoprotem E APOE 2

Apolipoprotein H APOH 2

Aquaporin 1 AQP1 2

Aquaporin 2 AQP2 2

Argimne vasopressin AVP 5

Argimne vasopressin receptor 1 A AVPR1A 5

Argimne vasopressin receptor 2B AVPR1B 5

Arg ine vasopressin receptor 2 AVPR2 5

Asparagine synthetase AS 1

Aspartate transcarbamoylase 1

Ataxia telangiectasia complementation group ATD,ATDC 6

D

Ataxia telangiectasia gene, AT ATM 6

ATP cobalamin adenoxyltiansferase 1

Atiial natriuretic peptide ANP 6

Atiial natiiuretic peptide receptor A NPR1 6

Atiial natiiuretic peptide receptor B NPR2 6

Atdal natriuretic peptide receptor C NPR3 6

Attractin

Autoimmune regulator, AIRE AIRE beta-endorpMn receptor 5 beta-galactosidase GLB I 1 beta-ketoacyl reductase 1

Bile acid coenzyme A: amino acid N- BAAT 1 acyltransferase

Bile salt export pump BSEP, PFIC2 2

Bile salt-stimulated lipase CEL 1 Bilirubin UDP-glucuronosyltiansferase 1

Bloom syndrome protein BLM 6

Bradykimn receptor Bl 4

Bradykimn receptor B2 4

Branched chain ammotiansferase 1, cytosolic BCAT1 1

Branched chaM amMotiansferase 2, BCAT2 1 mitochondrial

Branched chain keto acid dehydrogenase El, BCKDHA 1 alpha polypeptide

Branched chain keto acid dehydrogenase El, BCKDHB 1 beta polypeptide

Butyrylcholinesterase BCHE 1

C 17-20 desmolase 1

C3 convertase 1

CalbMdin 1 CALB1 6

CalbMdin DgK CALB3 6

Calcineurin AI CALNA1 4

Calcineurin A2 CALNA2 4

Calcineurin A3 CALNA3 4

Calcineurin B 4

Calcitomn receptor /Calcitomn gene-related CALCR 5 peptide receptor

Calcitomn/Calcitomn gene-related peptide CALCA 5 alpha

Calcium channel, voltage-dependent, alpha CACNA1F 5

I F subimit

Calcium channel, voltage-dependent, Alpha- CACNA1B 5

I B (CACNL1 A5)

Calcium channel, voltage-dependent, Alpha- CACNA1C 5

1 C

Calcium channel, voltage-dependent, Alpha- CACNA1D 5

I D

Calcium channel, voltage-dependent, Alpha- CACNA1E 5

1 E (CACN1A6)

Calcium channel, voltage-dependent, Alpha- CACNA2 5

2/delta

Calcium channel, voltage-dependent, Beta 1 CACNB1 5

Calcium channel, voltage-dependent, Beta 3 CACNB3 5

Calcium channel, voltage-dependent, L type, CACNALS 5 alpha IS subimit

Calcium channel, voltage-dependent, CACNG2 5

Neuronal, Gamma

Calcium channel, voltage-dependent, P/Q CACNA1A 5 type, alpha 1A subumt

Calcium channel, voltage-dependent, T-type 5

Calcium sensing receptor CASR 2

CalmodulM 1 CALM1 6 Calmodutin 2 CALM2 6 CalmodulM 3 CALM3 6

Calmodulm-dependant proteM Idnase II CAMK2A 6 CaMexm CANX 6 Calpain CAPN,CAPN3 1 CaketMM CALB2 5

Canalicular multispecific orga c amon CMOAT 2 tiansporter Cannabmoid receptor CNR1 Carbomc anhydrase 3 CA3 Carbomc anhydrase 4 CA4 Carbomc anhydrase, alpha CA1 Carbomc anhydrase, beta CA2 Carboxylesterase 1 CES1 Cardiac-specific homeobox, CSX CSX Camitine acetyltransferase CRAT Camitine acylcarmtine translocase CACT Camitine pahnitoyltiansferase I CPT1A Camitine palmitoyltransferase II CPT2 Camitine tiansporter proteM CDSP, SCD 2 Carnosinase 5

Cartilage-hair hypoplasia gene CHH 5 Catechol-o-methyltransferase COMT 1 Cell adhesion molecule, intercellular, ICAM ICAM1 6 Cell adhesion molecule, leukocyte- LECAMl 6 endothelial, LECA (CD62) Cell adhesion molecule, liver, LCAM LCAM 6 Cell adhesion molecule, neural, NCAMl NCAMl 6 Cell adhesion molecule, neural, NCAM2 NCAM2 6 Cell adhesion molecule, platelet-endothelial, PECAMl 6 PECAM

Cell adhesion molecule, vascular, VCAM VCAMl 6 c-erbB2 ERBB2 6 c-erbB3 ERBB3 6 c-erbB4 ERBB4 6 CMtotriosidase CHIT 1 Cholecystokimn CCK 5 Cholecystokimn B receptor CCKBR 5 Cholesterol ester hydroxylase 1 Cholesterol ester transfer protein CETP 2 Choline acetyltransferase CHAT 1 CMomogramn A CHGA 6 Chymase CHY1 Citrate synthase 1 Clathrin 2 Clusterin CLU 6 CoA transferase 1 Collagen IV alpha 5 COL4A5 3

Collagen IN alpha 6 COL4A6 3

Complex III 1

Complex V MTATP6 1

Corticosteroid bMdMg globulm CBG 5

CorticotropMn-releasing hormone CRH 2

CorticotropMn-releasmg hormone receptor CRHR1 2

Cortisol receptor 4

CubilM CUBN 2

Cyclic AMP-dependent proteM kinase PKA

Cyclic nucleotide phosphodiesterase IB PDE1B

Cyclic nucleotide phosphodiesterase IBl PDE1B1

Cyclic nucleotide phosphodiesterase 2A3 PDE2A3

Cyclic nucleotide phosphodiesterase 3A PDE3A

Cyclic nucleotide phosphodiesterase 3B PDE3B

Cyclic nucleotide phosphodiesterase 4A PDE4A

Cyclic nucleotide phosphodiesterase 4C PDE4C

Cyclic nucleotide phosphodiesterase 5 A PDE5A

Cyclic nucleotide phosphodiesterase 6A PDE6A

Cyclic nucleotide phosphodiesterase 6B PDE6B

Cyclic nucleotide phosphodiesterase 7 PDE7

Cyclic nucleotide phosphodiesterase 8 PDE8

Cyclic nucleotide phosphodiesterase 9A PDE9A

CyclM-dependent Idnase inMbitor IC (P57, CDKNIC 6

KIP2)

Cyclin-dependent Idnase MMbitor 2A (pl 6) CDKN2A 6

Cyclooxygenase I COXl

Cyclooxygenase 2 COX2

CYPl lAl CYPllAl

CYP11B1 CYP11B1

CYP11B2 CYP11B2

CYP17 CYP17

CYP19 CYP19

CYPIAI CYPIAI

CYP1A2 CYP1A2

CYP1B1 CYP1B1

CYP21 CYP21

CYP24 CYP24

CYP27 CYP27

CYP27B1 PDDR

CYP2A1 CYP2A1

CYP2A13 CYP2A13

CYP2A3 CYP2A3

CYP2A6V2 CYP2A6V2

CYP2A7 CYP2A7

CYP2B6 CYP2B6

CYP2C18 CYP2C18 CYP2C19 CYP2C19 1

CYP2C8 CYP2C8 1

CYP2C9 CYP2C9 1

CYP2D6 CYP2D6 1

CYP2E1 CYP2E1 1

CYP2F1 CYP2F1 1

CYP2J2 CYP2J2 1

CYP3A3 CYP3A3 1

CYP3A4 CYP3A4 1

CYP3A5 CYP3A5 1

CYP3A7 CYP3A7 1

CYP4AII CYP4AII 1

CYP4BI CYP4BI 1

CYP4F2 CYP4F2 1

CYP4F3 CYP4F3 1

CYP51 CYP51 1

CYP5A1 CYP5A1 1

CYP7A CYP7A 1

CYP8 CYP8 1

CystatMonase CTH 1

CystatMone beta synthase CBS 1

Cystic fibrosis transmembrane conductance CFTR 5 regulator, CFTR

Cystinosin CTNS 2

Cytidine deammase CDA 1

Cytidine-5 -prime-triphosphate synthetase CTPS 1

CytocMome a

CytocMome c

CytocMome c oxidase, MTCO

Cytokine-suppressive antiinflammatory drag- CSBPl 4 bmdmg protein 1

Cytokine-suppressive antiinflammatory drag- CSBP2 4 binding protein 2

DAXl nuclear receptor DAXl 4

D-beta-hydroxybutyrate dehydrogenase

Dehydratase

Delta 4-5 oxosteroid isomerase

Delta aminolevulMate synthase 1 ALAS1 1

Delta aminolevuiinate synthase 2 ALAS2 1

Deoxycorticosterone (DOC) receptor

DeoxyuridMe tiiphosphatase; dUTPase

DHEA sulfotransferase STD 1

Dihydrodiol dehydrogenase 1 DDH1 1

DMydrolipoamide branched chain DBT 5 tiansacylase

Dihydrolipoamide dehydrogenase DLD 5

Dihydrolipoyl dehydrogenase 2 PDHA 1 Dihydrolipoyl transacetylase PDHA

Dihydroorotase

DihydropyramidMase DPYS

Dihydroxyacetonephosphate acyltiansferase DHAPAT

Dihyropyrimidme dehydrogenase DPYD

DNA glycosylases

DNA helicases

DNA Ligase 1 LIG1

DNA methyltiansferase DNMT

DOPA decarboxylase DDC

Dopamine beta hydroxylase DBH

Dopamine receptors Dl DRD1 5

Dopamine receptors D2 DRD2 5

Dopamine receptors D3 DRD3 5

Dopamine receptors D4 DRD4 5

Dopamme receptors D5 DRD5 5

Dynamin DNM1 6

Election-tiansfering-flavoproteM alpha ETFA 2

Electron-tiansfering-flavoprote beta ETFB 2

Election-tiansferring flavoprotein ETFDH 1 dehydrogenase

Endometrial bleeding-associated factor EBAF 6

EndothelM converting enzyme ECEI 5

EndothelM receptor type A EDNRA 5

Endothelin receptor type B EDNRB 5

Enolase ENO1 1

Enoyl CoA reductase 1

Enterokinase PRSS7,ENTK 1

Ephrin receptor tyrosine kinase A EPHA 6

Ephrin receptor tyrosine kinase B EPHB 6

Epidermal growth factor EGF 6

Epidermal growth factor receptor EGFR 6

ErytMopoietin EPO 4

Estiogen receptor ESR 6

Excision repair compIementation,group 1 ERCC1 1 protein

Factor 1 (No. one) FI 4

FADH dehydrogenase 1

Fatty acid binding proteins FABP2 FABP2 2

Fc fragment of IgG, Mgh affimty IA, receptor FCGRIA 6 for

Fc fragment of IgG, low affimty Ila, receptor FCGR2A 6 for (CD32)

Fc fragment of IgG, low affimty lila, receptor FCGR3A 6 for (CDI 6)

Ferritin, H subimit 2

Ferritin, L subimit FTL 2 Fibrinogen alpha FGA 3

Fibrinogen beta FGB 3

Fibrinogen gamma FGG 3

Fibroblast growth factor FGFI 6

Fibroblast growth factor receptor 1 FGFR1 6

Fibroblast growth factor receptor 2 FGFR2 6

Fibroblast growth factor receptor 3 FGFR3 6

Flavin-contaimng monooxygenase 1 FMOL 1

Flavin-contaimng monooxygenase 2 FMO2 1

FlavM-contaming monooxygenase 3 FMO3 1

Flavin-containmg monooxygenase 4 FMO4 1

Follicle stimulatmg hormone receptor FSHR,ODGl 6

Follicle stimulatmg hormone, FSH FSHB 6

Follistatin 6

Frataxin FRDA 6

Fractose- 1 ,6-diphosphatase FBP1 1

Fumarase FH 1

Fumarylacetoacetase FAH 1

GABA receptor, alpha 1 GABRA1 5

GABA receptor, alpha 2 GABRA2 5

GABA receptor, alpha 3 GABRA3 5

GABA receptor, alpha 4 GABRA4 5

GABA receptor, alpha 5 GABRA5 5

GABA receptor, alpha 6 GABRA6 5

GABA receptor, beta 1 GABRB1 5

GABA receptor, beta 2 GABRB2 5

GABA receptor, beta 3 GABRB3 5

GABA receptor, gamma 1 GABRG1 5

GABA receptor, gamma 2 GABRG2 5

GABA receptor, gamma 3 GABRG3 5

GABA transaminase ABAT 1

Galactocerebrosidase GALC 1

Galactokinase GALK1 1

Galactose 1 -phosphate uridyl-transferase GALT 1

Galamn GAL 5

Galamn receptor GALNRI 5

Gamma-glutamyl carboxylase GGCX 2

Gamma-glutamyltransferase 1 GGT1 2

Gamma-glutamyltransferase 2 GGT2 2

Gap junction protein beta 1 GJB1 2

Gap junction protein beta 3 GJB3 2

Gastric inMbitory polypeptide GIP GIP 2

Gastiic inMbitory polypeptide receptor, GIPR GIPR 2

Gastiic Intrinsic factor, GIF GIF 1

Gastric lipase, LIPF 2

Gastrin GAS 6

Gastrin releasmg peptide GRP 2 Gastrin releasMg peptide receptor GRPR 2

Glucagon receptor GCGR 6

Glucagon synthase ^' 2

Glucagon-like peptide receptor 1 GLP1 R 6

Glucocorticoid receptor GRL 6

GlucokMase GCK

Glucosaminyl (N-acetyl) transferase 2, 1- GCNT2 brancMng enzyme

Glucose-6-phosphatase G6PC

Glucose-6-phosphatase tianslocase G6PT1

Glucose-6-phosphate dehydrogenase G6PD

Glucosidase, acid beta GBA

Glutamate decarboxylase, GAD GAD1

Glutamate dehydrogenase GLUD1

Glutamine phosphoribosylpyrophosphate amidotiansferase/PRPP amidotransferase

Glutamine synthase

GlutatMone GSH 2

GlutatMone peroxidase, GPX2 GPX2

GlutatMone reductase, GSR GSR

GlutatMone S-transferase, GSTZI GSTZI

GlutatMone synthetase GSS

Glyceraldehyde-3 -phosphate dehydmgenase, GAPDH

GAPDH

Glycerol kinase GK

Glycerophosphate d hydrogenase 2 GPD2

Glycinamide ribonucleotide (GAR) GART tiansformylase

Glycine dehydrogenase GLDC

Glycogen branchmg enzyme GBE1

Glycogen phosphorylase PYGL

Glycogen synthase 1 (muscle) GLYS1

Glycogen synthase 2 (liver) GYS2

Glycosyltiansferases, ABO blood group ABO

Gonadotropin releasing hormone GNRH 6

Gonadotropin releasing hormone receptor GNRHR 6

Growth arrest-specific homeobox GAX 6

Growth hormone 1 GH1 6

Growth hormone 2 (placental) GH2 6

Growth hormone receptor GHR 6

Growth hormone releasMg hormone (GHRH) GHRH 6

Growth hormone releasmg hormone receptor GHRHR 6

GTP cylcohydrolase I GCHI 6

GTPase-activating protein, GAP RASAI 6

Gua dmoacetate N-methyltransferase GAMT 1

Guamne nucleotide-bmdMg proteM, alpha GNA01 5 activating activity polypeptide, GNAO Guamne nucleotide-bMdMg proteM, alpha GNA11 5

MMbitMg activity polypeptide 1, GNA11

Guamne nucleotide-bindmg proteM, alpha GNA12 5 inMbiting activity polypeptide 2, GNA 12

Guamne nucleotide-bindMg proteM, alpha GNA13 5

MMbit g activity polypeptide 3, GNA13

Guamne nucleotide-bindMg protein, alpha GNAS1 5 stimulating activity polypeptide, GNAS1

Guamne nucleotide-bindMg protem, alpha GNAS2 5 stimulating activity polypeptide, GNAS2

Guamne nucleotide-bMdMg protein, alpha GNAS3 5 stimulating activity polypeptide, GNAS3

Guamne nucleotide-bMdmg protein, alpha GNAS4 5 stimulating activity polypeptide, GNAS4

Guamne nucleotide-bindmg protein, alpha GNATI 5 transducing activity polypeptide, GNATI

Guamne nucleotide-bmdMg protein, alpha GNAT2 5 transducing activity polypeptide, GNAT2

Guamne nucleotide-bMding protein, beta GNB3 5 polypeptide 3

Guamne nucleotide-bMding protein, gamma GNG5 5 polypeptide 5

Guamne nucleotide-bMding protein, q GNAQ 5 polypeptide

Guanylate cyclase 2D, membrane (retina- GUCY2D 1 specific)

Guanylate cyclase activator 1A (retina) GUCA1A 1

Guanylate kinase 1

Guanylin GUCA2 2

Guanylyl cyclase 1

Heat shock protein, HSP60 4

Heat shock protein, HSP70 4

Heat shock protein, HSP90 4

Heat shock protem, HSPA1 4

Heat shock protein, HSPA2 4

Hemopexin HPX 4

Heparin bMdMg epidermal growth factor HBEGF 6

Hepatic lipase LIPC

Hepatic nuclear factor-3-beta HNF3B

Hepatic nuclear factor-4-alpha HNF4A

HexokMase 1 HK1

HexokMase 2 HK2

Hexosamimdase A HEXA,TSD

Hexosamimdase B HEXB

HistamMe receptors, Hl 5

Histamine receptors, H2 5

HistamMe receptors, H3 5 HMG-CoA lyase HMGCL 1

HMG-CoA reductase HMGCR 1

HMG-CoA synthase HMGCS2 1

Holocarboxylase synthetase HLCS 1

Holoprosencephaly 1 HPE1 6

Holoprosencephaly 2 HPE2 6

Holoprosencephaly 3 HPE3 6

Holoprosencephaly 4 HPE4 6

Homeobox (HOX) gene AI 3 HOXA13 6

Hormone-sensitive lipase HSL 1

HSSB, replication protein 1

Human choriomc gonadtropMn, hCG CG 6

Human placental lactogen CSH1 6

Hydroxyacyl glutatiiione hydrolase HAGH 1

HypoxantMne-guamne HPRT 1 phosphoribosyltiansferase, HGPRT

Hypoxia inducible factor 1 HIF1A 1

Hypoxia inducible factor 2 1

Iduronate 2 sulphatase IDS 1

Immunoglobulin E (IgE) reponsiveness gene IGER 4

Immunoglobulin E (IgE) serum concentration IGES 4 regulator gene

ImmunoglobulM gamma (IgG) 2 IGHG2

Indian hedgehog, ihh IHH 6

InMbin, alpha INHA 6

InMbin, beta A INHBA 6

InMbM, beta B INHBB 6

InMbin, beta C INHBC 6

InosMe monophosphate dehydrogenase, 1

IMPDH

Inosine tiiphosphatase ITPA 1

Inositol 1,4,5-triphosphate receptor I ITPR1 6

Inositol monophosphatase IMPA1 5

Inositol polyphosphate 1 -phosphatase INPP1 5

InsulM INS 6

InsulM receptor INSR 6

Msulin receptor Substrate- 1 IRS1 6

Insulin-like growth factor 1 IGF1 6

Insulin-like growth factor 1 receptor IGF1R 6

InsulM-like growth factor 2 IGF2 6

Msulin-like growth factor 2 receptor IGF2R 6

Integrin beta 1 TGB1 6

Integrin beta 2 ITGB2 6

InterleukMQL) 1 receptor IL1R

InterleukMQL) 1, alpha ELIA

MterieukMQL) l, beta IL1B

Interleukm(IL) 10 IL10 MterieukMQL) 10 receptor IL10R

MterieukMQL) 11 IL11

MterleuldnQL) 11 receptor IL11R

Mterleu_dn(IL) 12 IL12

MterleukinQL) 12 receptor, beta 1 IL12RB1

InterleukMQL) 13 IL13

MterleukinQL) 13 receptor IL13R

MterieukMQL) 2 IL2

MterieukMQL) 2 receptor, alpha IL2RA

MterleukinQL) 2 receptor, gamma IL2RG

Mterleukin(IL) 3 IL3

MterleukinQL) 3 receptor IL3R

Interleukin(IL) 4 IL4

MterleuldnQL) 4 receptor IL4R

InterleukinQL) 5 IL5

MterleukinQL) 5 receptor IL5R

InterleukinQL) 6 IL6

Mterleukin(IL) 6 receptor IL6R

MterleukinQL) 7 IL7

InterleukinQL) 7 receptor IL7R

MterleukinQL) 8 IL8

MterleukinQL) 8 receptor IL8R

InterleukinQL) 9 IL9

MterleuldnQL) 9 receptor IL9R

InterleukinQL) receptor antagomst 1 IL1RN, IL1RA 4

Iodothyromne-5'-deiodinase, type 1 and 2 1

IP3 kinase 1

Met amyloid polypeptide IAPP 5

Isocitrate dehydrogenase 1

Isovaleric acid CoA dehydrogenase rvτ> 1

Janus kinase 1 JAK1 6

Janus kinase 2 JAK2 6

Janus kinase 3 JAK3 6

Kallman syndrome gene KALI 6

Ketohexokinase KHK 1

Ketolase 1

Lactase 1

Lactotransferrin LTF 2

Lamimn 5, alpha 3 LAMA3 6

Lamimn 5, beta 3 LAMB3 6

Lamimn receptor 1 LAMR1 6

LecitMn-cholesterol acyltransferase LCAT 1

Leptin LEP 6

Leptin receptor LEPR 6

Leukotriene C4 synthase LTC4S 1

LH/choriogonadotropin (CG) receptor LHCGR 6

Lipoamide dehydrogenase OGDH 1 Lipoprotein lipase LPL 4

LipoproteM, High Density HDLDT1 2

LipoproteM, Mtermediate Density 2

LipoproteM, Low Density 1 2

LipoproteM, Low Density 2 2

LipoproteM, Very Low Density VLDLR 2

Lipoprotein-associated coagulation factor LACI 4

Lipoxygenase 1

Lipoxygenase 12 (platelets) LOG12

Lipoxygenase 5 (leukocytes)

Luteimzing hormone, beta chaM LHB 6

Lymphocyte-specific protein tyrosine Idnase LCK 4

Lysosomal acid lipase LIPA 1

MAD (mothers against decapentaplegic, MADH2 6

DrosopMla) homologue 2

Malate dehydrogenase, mitochondrial MDH2

Malonyl CoA decarboxylase

Malonyl CoA transferase

Maltase-glucoamylase

Mannosidase, alpha B lysosomal MANB 1

Mannosyl (alpha- l,6-)-glycoprotein beta-1, 2- MGAT2 2

N-acetylglucosaminyltransferase

Marenostrin MEFV 2

Matrix Gla protein MGP 6

MEK kinase, MEKK 1

Melanocortin 2 receptor MC2R 2

Melanocortin 4 receptor MC4R 2

Menm MEN1 6

MetMomne adenosyltiansferase MAT1A, MAT2A 1

MetMomne synthase MTR 1

MetMomne synthase reductase MTRR 1

Methylguamne-DNA methyltiansferase MGMT 1

Methylmalonyl-CoA mutase MUT 1

Mitochondrial triftmctional protein, alpha HADHA 1 subimit

Mitochondrial trifunctional protem, beta HADHB subimit

Molybdenum cofactor synthesis 1 MOCS1 1

Molybdenum cofactor synthesis 2 MOCS2 1

Monoamine oxidase A MAOA 1

Monoamine oxidase B MAOB 1

Multidrag resistance associated protem MRP 6

Muscarimc receptor, Ml CHRM1 5

Muscarimc receptor, M2 CHRM2 5

Muscarimc receptor, M3 CHRM3 5

Muscarimc receptor, M4 CHRM4 5

Muscarimc receptor, M5 CHRM5 5 Muscle phosphorylase PYGM 1

Na+, K+ ATPase, alpha ATP1A1 6

Na+, K+ ATPase, beta 1 ATP IBl 6

Na+, K+ ATPase, beta 2 ATP1B2 6

Na+, K+ ATPase, beta 3 ATP1B3 6

Na+/H+ exchanger 1 NHE1 2

Na+/H+ exchanger 2 NHE2 2

Na+/H+ exchanger 3 NHE3 2

Na+/H+ exchanger 4 NHE4 2

Na+/H+ exchanger 5 NHE5 2

N-acetyltransferase 1 NAT1 1

N-acetyltransferase 2 NAT2 1

NADH dehydrogenase (ubiquinone) Fe-S NDUFS1 1 protein 1

NADH dehydrogenase (ubiqumone) Fe-S NDUFS4 1 protein 4

NADH dehydrogenase (ubiquinone) NDUFV1 1 avoprotein 1

NADH-cytocMome b5 reductase DIA1 1 reductase

NADPH-dependent cytocMome P450 reductase POR 1

NepMonophtMsis 1 NPHP1 2

NepMosis 1 NPHS1 2

Nerve growth factor NGF 6

Nerve growth factor receptor NGFR 6

NeuramMidase sialidase NEU 2

Neuregulin HGL 6

NeuroendocrMe convertase 1 NEC1, PCSK1 1

Neurofibromin 1 NF1 6

Neurofibromin 2 NF2 6

Neuropeptide Y NPY 5

Neuropeptide Y receptor Yl NPYI R 5

Neuropeptide Y receptor Y2 NPY2R 5

Neurotensin NTS 5

Neurotensin receptor NTSR1 5

NeurotropMn 3 NTF3 or NT3 6

Neutral endopeptidase 1

Niemann-Pick disease proteM NPC1 2

Nitric oxide synthase 1, NOSl NOSl 1

Nitric oxide synthase 2, NOS2 NOS2 1

Nitric oxide synthase 3, NOS3 NOS3 1

Notch ligand -jagged JAG1, AGS 6

Nucleoside diphosphate kinase-A NDPKA 1

Oncogene ret RET 6

Oncogene sis PDGFB 6

Orexin OX 6

Orexin 1 receptor OX1R 6 Orexin 2 receptor OX2R 6

OmitMne delta-aminotransferase OAT 1

OmithMe transcarbamoylase OTC, NMEl 1

Oxytocm OXT 5

Oxytoc receptor OXTR 5

Paired box homeotic gene 6 PAX6 6

Paired box homeotic gene 8 PAX8 6

Palmitoyi-protem tMoesterase PPT 2

Pancreatic lipase PNLIP 1

Paraoxonase PONI PONI 1

Paraoxonase PON2 PON2 1

Paraoxonase PON3 1

Parathyroid hormone PTH 6

Parathyroid hormone receptor PTHR1 6

Parathyroid hormone related-peptide PTHRP 6

Parathyroid honnone-like hormone PTHLH 6

Peanut-like 1 PNUTLl 4

Peptidylglycine alpha-amidating PAM 1 monooxygenase

Peroxidase, salivary SAPX 1

Peroxisomal membrane proteM 3 PXMP3 2

Peroxisome biogenesis factor 1 PEXl 2

Peroxisome biogenesis factor 19 PEXl 9 2

Peroxisome biogenesis factor 6 PEX6 2

Peroxisome biogenesis factor 7 PEX7 2

Peroxisome proliferative activated receptor, PPARA 2 alpha

Peroxisome proliferative activated receptor, PPARG gamma

P-glycoprotein I PGY1 2

P-glycoprotein 3 PGY3 2

Phenylalamne hydroxylase PAH 1

Phenylatamne monooxygenase 1

Phenylethanolamine N-methyltransferase, PNMT 1

PNMT

Phosphodiesterase 1 / nucleotide PDNPl 6 pyrophosphatase 1

Phosphodiesterase 1 / nucleotide PDNP2 6 pyrophosphatase 2

Phosphodiesterase 1 / nucleotide PDNP3 6 pyrophosphatase 3

Phosphoenolpyruvate carboxykinase PCK1

Phosphofructokinase, liver PFKL

Phosphofructokinase, muscle PFKM

Phosphoglucomutase

Phosphoglucose isomerase GPI

Phosphoglycerate kinase 1 PGK1 Phosphoglycerate mutase 2 PGAM2 1

Phospholipase A2, group 10 PLA2G10 4

Phospholipase A2, group IB PLA2G IB 4

Phospholipase A2, group 2A PLA2G2A 4

Phospholipase A2, group 2B PLA2G2B 4

Phospholipase A2, group 4A PLA2G4A 4

Phospholipase A2, group 4C PLA2G4C 4

Phospholipase A2, group 5 PLA2G5 4

Phospholipase A2, group 6 PLA2G6 4

Phospholipase C alpha 4

Phospholipase C beta 4

Phospholipase C delta PLCD1 4

Phospholipase C epsilon 4

Phospholipase C gamma PLCG1 4

Phosphomannomutase 2 PMM2 6

Phosphomannomutase 2 PMM2 2

Phosphomannose isomerase- 1, PMI MPI 2

Phosphoribosyl pyrophosphate synthetase PRPS1

Phosphorylase kinase deficiency, liver PHK

Phosphorylase kinase, alpha 1 (muscle) PHKA1

Phosphorylase kinase, alpha 2 PHKA2

Phosphorylase kinase, beta PHKB

Phosphorylase Idnase, delta

Phosphorylase kMase, gamma 2 PHKG2

Phytanoyl-CoA hydroxylase PHYH 6

Pineolytic beta-receptors 1

Pituitary adenylate cyclase activatmg peptide PACAP 5

Pituitary adenylate cyclase activatmg peptide PACAPIR 5 receptor

Plasminogen activator receptor, Urokinase UPAR;PLAUR 3

Plasminogen activator, Tissue PLAT;TPA 1

Plasminogen activator, Urokinase UPAjPLAU 1

Platelet derived growth factor PDGF 6

Platelet derived growth factor receptor PDGFR 6

Poly (ADP-ribose) synthetase PARS 1

Polycystin 1 PKD1 2

Polycystin 2 PKD2 2

Porphobilinogen deaminase HMBS 1

Potassium inwardly-rectifying channel Jl KCNJ1 5

Potassium inwardly-rectifymg Channel Jl 1 KCNJ11 5

Potassium voltage-gated Channel AI KCNA1 5

Potassium voltage-gated channel El KCNE1 5

Potassium voltage-gated Channel Ql KCNQl 5

Preproenkephalin PENK 5

Preproglucagon GCG;GLP1; GLP2 6

Preproglucagon 2

Preproinsulin 2 Profibrinolysm 6 receptor)

Prolactin PRL 6

Prolactin receptor PRLR 6

Prolactin releasMg hormone PRH 6

Proliferin PLF 6

Proline dehydrogenase PRODH 1

Proline-rich protem BstNI subfamily 1 PRB1 3

Proline-rich protem BstNI subfamily 3 PRB3 3

Proline-rich protein BstNI subfamily 4 PRB4 3

Pro-melamn-concentiating hormone PMCH 6

Proopiomelanocortin POMC 5

Prophet of Pitl PROP1 6

Prostacyclin synthase 4

ProstagiandM (PG) D synthase, PGDS 1 hematopoietic

ProstagiandM 15-OH dehydrogenase HGPD;PGDH 4

Prostaglandin D - DP receptor 4

Prostaglandm El receptor 4

Prostaglandin E2 receptor 4

Prostaglandin E3 receptor 4

Prostaglandm F - FP receptor 4

Prostaglandm 12 receptor 2

Prostaglandin IP receptor 4

ProstagiandM isomerase 6

ProstasM, PRSS8 PRSS8 1

Protease nexm 2 PN2 1

Protem Idnase B PRKB

Protein kinase C, alpha PRKCA 1

Protein S PROS 4

Protoporphyrinogen oxidase PPOX 1

Pterin-4-alpha-carbinolamine PCBD

Pyrroline-5-carboxylate synthetase PYCS 1

Pyruvate carboxylase PC 1

Pyruvate decarboxylase PDHA 1

Pyruvate Idnase PKLR 1

QuMoid dihydropteridMe reductase QDPR 1

Rathke pouch homeobox, RPX RPX 6

Relaxin Hl RLN1 6

Relaxin H2 RLN2 6

Remn REN 1

Replication factor C RFC2 1

Retinal pigment epithelium specific protem RPE65 3

(65kD)

Retinaldehyde bmdmg proteM 1 RLBP1 2

Retinoic acid receptor, alpha RARA 6

Retinoic acid receptor, beta RARB 6 Retinoic acid receptor, gamma RARG 6

Retinoid X receptor, alpha RXRA 6

Retinoid X receptor, beta RXRB 6

Retinoid X receptor, gamma RXRG 6

Retinol binding protein 1 2

Retinol bMdMg protein 2 2

Ribosephosphate pyrophosphokMase 1

RIGUI RIGUI 6

Ryanodine receptor 1, skeletal RYRI 6

S100 calcium-binding protein A3 S100A3 5

S 100 calcium-binding protein A4 S100A4 5

S100 calcium-binding protein A7 S100A7 5

S100 calcium-binding protein A8 S100A8 5

S100 calcium-binding protein A9 S100A9 5

S100 calcium-binding protein B S100B 5

S100 calcium-binding proteM P S100P 5

S-AdenosylmetMomne decarboxylase, AMD 1

Salivary amylase, AMY1 2

Secretin SCT 2

Secretin receptor, SCTR SCTR 2

Serine hydroxymethyltiansferase SHMT 1

SerotonM N-acetyltransferase SNAT 1

SerotonM receptor, 5HT1A HTR1A 5

Serotomn receptor, 5HT1B HTR1B 5

Serotomn receptor, 5HT1C HTR1C 5

Serotomn receptor, 5HT1D HTR1D 5

Serotomn receptor, 5HT1E HTR1E 5

Serotomn receptor, 5HT1F HTR1F 5

SerotonM receptor, 5HT2A HTR2A 5

SerotonM receptor, 5HT2B HTR2B 5

Serotomn receptor, 5HT2C HTR2C 5

Serotomn receptor, 5HT3 HTR3 5

Serotomn receptor, 5HT4 HTR4 5

Serotomn receptor, 5HT5 HTR5 5

Serotomn receptor, 5HT6 HTR6 5

Serotomn receptor, 5HT7 HTR7 5

Serum amyloid A SAA 2

Serum amyloid P SAP 2

Sex determimng region Y, SRY SRY 6

Sex hormone binding globulin, SHBG 2

Sodium channel, non-voltage gated 1, alpha SCNNIA 5

Sodium Channel, non-voltage gated 1, beta SCNNIB 5

Sodium Channel, non-voltage gated 1, SCNNIG 5 gamma

Sodium channel, voltage-gated, type 1, beta SCN1B 5 polypeptide

Solute carrier family 1 (antino acid SLC1A6 2 transporter), member 6

Solute carrier family 1 (neutral ammo acid SLC1N4 2 tiansporter), member 4

Solute carrier family 10 (sodium/bile acid SLC1OAL 2 cotransporter family),member 1

Solute carrier family 10 (sodium/bile acid SLC1OA2 2 cotransporter family),member 2

Solute carrier family 12, member 1 SLC12A1 2

Solute carrier family 12, member 2 SLC12A2 2

Solute carrier family 12, member 3 SLC12A3 2

Solute carder family 14, member 2 SLC14A2 2

Solute carrier family 15 (H+/peptide SLC15A1 2 transporter, intestinal), member 1

Solute carrier family 15 (H+/peptide SLC15A2 2 transporter, kidney), member 2

Solute carder family 16 (monocarboxylate SLC16A1 2 transporter), member 1

Solute carrier family 16 (monocarboxylate SLC16A7 2 transporter), member 7

Solute carrier family 17, member 1 SLC17A1 2

Solute carrier family 17, member 2 SLC 17A2 2

Solute carrier family 2 (facilitated glucose SLC2A1 2 transporter), member 1

Solute carrier family 2 (facilitated glucose SLC2A2 2 transporter), member 2

Solute carrier family 2 (facilitated glucose SLC2A3 2 transporter), member 3

Solute carrier family 2 (facilitated glucose SLC2A4 2 tiansporter), member 4

Solute carrier family 2 (facilitated glucose SLC2A5 2 tiansporter), member 5

Solute carrier family 20, member 3 SLC2OA3 2

Solute carrier family 21, member 2 SLC21 2

Solute carrier family 21, member 3 SLC21A3 2

Solute carrier fami y 22, member 1 SLC22N1 2

Solute carrier family 22, member 2 SLC22N2 2

Solute carrier family 22, member 5 SLC22N5 2

Solute carrier family 3 (facilitated glucose SLC3N1 2 tiansporter), member 1

Solute carrier family 4 (amon exchanger), SLC4N1 2 member 1

Solute carrier family 4 (amon exchanger), SLC4N2 2 member 2

Solute carrier family 4 (amon exchanger), SLC4N3 2 member 3

Solute carrier family 5 (sodium/glucose SLC5N1 2 transporter), member 1 Solute carrier family 5 (sodium/glucose SLC5A2 2 transporter), member 2

Solute carrier family 5 (sodium/glucose SLC5A5 2 transporter), member 5

Solute carrier family 5, member 3 SLC5A3 2

Solute carrier family 6 (GAMMA- SLC6A1 2

AMINOBUTYRIC ACID transporter), member

1

Solute carrier family 6 (neurotransmitter SLC6A3 2 transporter, dopamMe), member 3

Solute carrier family 6 (neurotransmitter SLC6A2 2 tiansporter, noradrenalme), member 2

Solute carrier family 6 (neurotransmitter SLC6A4 2 transporter, serotomn), member 4

Solute carrier family 6, member 10 SLC6A10 2

Solute carrier family 6, member 6 SLC6A6 2

Solute carrier family 6, member 8 SLC6A8 2

Solute carrier family 7(ammo acid SLC7A 2 transporter), member 1

Solute carrier family 7(aπtino acid SLC7A2 2 tiansporter), member 2

Solute carrier family 7(amino acid SLC7A7 2 transporter), member 7

Solute carrier family 8 (sodium/calcium SLC8A1 2 exchanger), member 1

Somatostatin SST 5

Somatostatin receptor, SSTRl SSTRl 5

Somatostatin receptor, SSTR2 SSTR2 6

Somatostatin receptor, SSTR3 SSTR3 5

Somatostatin receptor, SSTR4 SSTR4 5

Somatostatin receptor, SSTR5 SSTR5 5

SomatotropMn 6

Sorcin SRI 2

SOSI guamne nucleotide exchange factor SOSI 6

Sperm prolamine Pl PRMl 6

Sperm prolamine P2 PRM2 6

SpMngomyelinase SMPDl 1

SRY-box 10 SOX10 6

SRY-box 11 SOXll 6

SRY-box 3 SOX3 6

SRY-box 4 SOX4 6

SRY-box 9 SOX9 6

Steroid sulphatase STS 1

Steroidogemc acute regulatory proteM STAR 2

Substance P 5

SuccMyl CoA synthase 1

Sucrase 1 Sulfonylurea receptor SUR 6

Superoxide dismutase 1 SODl 1

Superoxide dismutase 3 SOD3 1

Surfeit SURFl 6

T-BOX 1 TBX1 6

T-BOX 3 TBX3 6

TMolase, perioxisomal 1

TMopurine S-methyltiansferase TPMT 1

TMombospondin THBSl 6

TMomboxane A synthase 1 TBXASl 4

TMomboxane A2 TXA2 4

TMomboxane N2 receptor TBXA2R 4

Thymopoietin TMPO 6

ThymosM 4

Thyroglobulin TG 6

Thyroid hormone receptor, alpha THRA 6

Thyroid hormone receptor, beta THRB 6

Thyroid peroxidase TPO 6

Thyroid receptor auxiliary protein TRAP 6

Thyroid-stimulating hormone receptor TSHR 6

Thyroid-stimulating hormone, alpha TSHA 6

Thyroid-stimulating hormone, beta TSHB 6

Thyrotropin releasing hormone TRH 6

Thyrotropin releasing hormone receptor TRHR 6

Thyroxin-bmding globulin TBG 2

Transacylase 1

Transcobalamin 2, TCΝ2 TCN2 2

Transcription factor 1, hepatic TCF1 6

Transcription factor 2, hepatic TCF2 6

Transcription termination factor, RNA TTF1 6 polymerase 1

Transferrin TF 6

Transferrin receptor TFRC 6

Transforming growth factor, beta 2 TGFB2 6

Transformmg growth factor, beta Mduced TGFBI 6

Transforming growth factor, beta receptor 2 TGFBR2 6

Transketolase TKT 1

Transketolase-like 1 TKTL1 1

Transthyretin TTR 2

Tubby-like protein 1 TULP1 6

Tuberous sclerosis 1 TSC1 6

Tuberous sclerosis 2 TSC2 6

Tyrosinase TYR

TyrosMase-related proteM 1 TYRPI

TyrosMe ammotiansferase TAT

Tyrosme hydroxylase TH

Ubiquitin activatmg enzyme, El Ubiquitin proteM ligase E3 A UBE3A 1

UDP-glucose pyrophosphorylase 1

UDP-glucuronosyltransferase 1 ugtld, UGTl 1

UDP-glucuronosyltransferase 2 UGT2 1

Uncoupling protem 1 2

Uncoupling protem 3 UCP3 2

Urate oxidase UOX 1

Ureidopropionase 1

Uridine monophosphate Idnase UMPK 4

Uddine monophosphate synthetase UMPS 4

Uridinediphosphate(UDP)-galactose-4- GALE 1 epimerase

Uroporphyrinogen decarboxylase UROD 1

Uteroglobm UGB 2

Vasoactive intestinal polypeptide VIP 5

Vasoactive intestinal polypeptide receptor VPR 5

VasoinMbitory peptide 6

Von Hippel-LMdau gene VHL 6

Werner syndrome helicase WRN 6

Wolfram syndrome I gene WFSl 3

Xylito dehydrogenase 1

dass die mit Kopfschmerzen in Zusammenhang stehenden Gene ausgewäMt sind aus:

Liste der Gene HUGO ProteM-

Gensymbol funktion

Acetylcholinesterase ACHE Adenyfate cyclase 1 ADCY1 Adenylate cyclase 2 ADCY2 Adenylate cyclase 3 ADCY3 Adenylate cyclase 4 ADCY4 Adenylate cyclase 5 ADCY5 Adenylate cyclase 6 ADCY6 Adenylate cyclase 7 ADCY7 Adenylate cyclase 8 ADCY8 Adenylate cyclase 9 ADCY9 Adrenergic receptor, alphal ADRA1 5 Adrenergic receptor, apha2 ADRA2 5 Adrenergic receptor, betal ADRB1 5 Adrenergic receptor, beta2 ADRB2 5 Adrenergic receptor, beta3 ADRB3 5 Angiopoietin 1 ANGPT1 6 Angiopoietin 2 ANGPT2 6 AngiotensM converting enzyme ACE, DCPL 1

AngiotensM receptor 1 AGTR1 2

Angiotensin receptor 2 AGTR2 2

Angiotensinogen AGT 1

Argmase ARG1 1

Argimne vasopressM AVP 5

Atriai natriuretic peptide ANP 6

Atiial natriuretic peptide receptor A NPR1 6

Atiial natriuretic peptide receptor B NPR2 6

Atiial natriuretic peptide receptor C NPR3 6

Calcitomn/Calcitomn gene-related peptide CALCA 5 alpha

Calcium channel, voltage-dependent, alpha IF CACNA1F 5 subimit

Calcium channel, voltage-dependent, Alpha- CACNA1B 5

1B (CACNL1A5)

Calcium channel, voltage-dependent, Alpha- CACNA1C 5

I C

Calcium channel, voltage-dependent, Alpha- CACNA1D 5

I D

Calcium channel, voltage-dependent, Alpha- CACNA1E 5

I E (CACNL1A6)

Calcium channel, voltage-dependent, Alpha- CACNA2 5

2/delta

Calcium channel, voltage-dependent, Beta 1 CACNB1 5

Calcium channel, voltage-dependent, Beta 3 CACNB3 5

Calcium channel, voltage-dependent, CACNG2 5

Neuronal, Gamma

Calcium channel, voltage-dependent, P/Q CACNA1A type, alpha 1 A subumt

Calcium channel, voltage-dependent, T-type 5

Calnexin CANX 6

CannabMoid receptor CNR1 5

Carbomc anhydrase 3 CA3

Carbomc anhydrase 4 CA4

Carbomc anhydrase, alpha CA1

Carbomc anhydrase, beta CA2

Catechol-o-methyltiansferase COMT

Choline acetyltransferase CHAT

Cyclic AMP-dependent proteM kinase PKA

Cyclic nucleotide phosphodiesterase IB PDE1B

Cyclic nucleotide phosphodiesterase IBl PDE1B1

Cyclic nucleotide phosphodiesterase 2A3 PDE2A3

Cyclic nucleotide phosphodiesterase 3A PDE3A

Cyclic nucleotide phosphodiesterase 3B PDE3B

Cyclic nucleotide phosphodiesterase 4A PDE4A

Cyclic nucleotide phosphodiesterase 4C PDE4C Cyclic nucleotide phosphodiesterase 5 A PDE5A 1

Cyclic nucleotide phosphodiesterase 6A PDE6A 1

Cyclic nucleotide phosphodiesterase 68 PD 6B 1

Cyclic nucleotide phosphodiesterase 7 PDE7 1

Cyclic nucleotide phosphodiesterase 8 PDE8 1

Cyclic nucleotide phosphodiesterase 9A PDE9A 1

Cyclooxygenase 1 COXl 1

Cyclooxygenase 2 COX2 1

CYPllAl CYPllAl 1

CYP11B1 CYP11B1 1

CYP11B2 CYP11B2 1

CYP17 CYP17 1

CYP19 CYP19 1

CYPIAI CYPIAI 1

CYP1A2 CYP1A2 1

CYP1B1 CYP1B1 1

CYP21 CYP21 1

CYP24 CYP24 1

CYP27 CYP27 1

CYP27B1 PDDR 1

CYP2A1 CYP2A1 1

CYP2A13 CYP2A13 1

CYP2A3 CYP2A3 1

CYP2A6V2 CYP2A6V2 1

CYP2A7 CYP2A7 1

CYP2B6 CYP2B6 1

CYP2C18 CYP2C18 1

CYP2C19 CYP2C19 1

CYP2C8 CYP2C8 1

CYP2C9 CYP2C9 1

CYP2D6 CYP2D6 1

CYP2E1 CYP2E1 1

CYP2F1 CYP2FI 1

CYP2J2 CYP2J2 1

CYP3A3 CYP3A3 1

CYP3A4 CYP3A4 1

CYP3A5 CYP3A5 1

CYP3A7 CYP3A7 1

CYP4A11 CYP4A11 1

CYP4B1 CYP4B1 1

CYP4F2 CYP4F2 1

CYP4F3 CYP4F3 1

CYP51 CYP51 1

CYP5A1 CYP5A1 1

CYP7A CYP7A 1

CYP8 CYP8 1

CystatMonase CTH 1 CystatMone beta synthase CBS

Cytidine deamMase CDA

CytidMe-5-prime-triphosphate synthetase CTPS

CytocMome a

CytocMome c

CytocMome c oxidase, MTCO

Cytokine-suppressive antiinflammatory drag- CSBPl 4 binding protein 1

CytokMe-suppressive antiinflammatory drug- CSBP2 4 binding protein 2

Dopamine beta hydroxylase DBH 1

Dopamine receptors Dl DRD1 5

DopamMe receptors D2 DRD2 5

DopamMe receptors D3 DRD3 5

Dopamine receptors D4 DRD4 5

Dopamme receptors D5 DRD5 5

Dystoma 9 CSE 3

Endothelm 1 EDN1 5

Endothelin 2 EDN2 5

Endothelin 3 EDN3 5

Endothelin converting enzyme ECEI 5

Endothelin receptor type A EDNRA 5

Endothelin receptor type B EDNRB 5

Enolase ENO1 1

Epidermal growth factor EGF 6

Epidermal growth factor receptor EGFR 6

ErytMopoietin receptor EPOR 4

GlutatMone GSH 2

GlutatMone S-transferase, GSTZI GSTZI 1

Glyceraldehyde-3 -phosphate dehydrogenase, GAPDH 1

GAPDH

Glycerol kinase GK 1

Glycinamide ribonucleotide (GAR) GART 1 tiansformylase

Hexosamimdase B HEXB 1

Histamine receptors, Hl 5

Histamine receptors, H2 5

Histamine receptors, H3 5

Hypoxia Mducible factor 1 HIF1A 1

Hypoxia mducible factor 2 1

InsulM INS 6

Insulin receptor INSR 6

InterleukinQL) 1, alpha IL1A 4

InterleukMQL) 1, beta IL1B 4

Interleuk QL) receptor antagomst 1 IL1RN, IL1RA 4

IP3 Idnase 1

Marenostrin MEFV 2 Methylmalonyl-CoA mutase MUT 1

Monoamine oxidase A MAOA 1

Monoamine oxidase B MAOB 1

Muscarimc receptor, Ml CHRM1 5

Muscarmic receptor, M2 CHRM2 5

Muscarimc receptor, M3 CHRM3 5

Muscarimc receptor, M4 CHRM4 5

Muscarimc receptor, M5 CHRM5 5

Myogemc factor 3 MYF3 6

Myogemc factor 4 MYF4 6

Myogemc factor 5 MYF5 6

NADH dehydrogenase 1 reductase

Neurokimn A NKNA 5

Neurokimn B NKNB 5

Neuropeptide Y NPY 5

Neuropeptide Y receptor Yl NPY1R 5

Neuropeptide Y receptor Y2 NPY2R 5

Nitric oxide synthase 1, NOSl NOSl 1

Nitric oxide synthase 2, NOS2 NOS2 1

Nitiic oxide synthase 3, NOS3 NOS3 1

Phospho ipase A2, group 10 PLA2G10 1

Phospholipase A2, group IB PLA2G1B 4

Phospholipase A2, group 2A PLA2G2A 4

Phospholipase A2, group 2B PLA2G2B 4

Phospholipase A2, group 4A PLA2G4A 4

Phospholipase A2, group 4C PLA2G4C 4

Phospholipase A2, group 5 PLA2G5 4

Phospholipase A2, group 6 PLA2G6 4

Phospholipase C alpha 4

Phospholipase C beta 4

Phospholipase C delta PLCD1 4

Phospholipase C epsilon 4

Phospholipase C gamma PLCG1 4

Potassium inwardly-rectifymg Channel Jl KCNJ1 5

Potassium voltage-gated Channel El KCNE1 5

Potassium voltage-gated channel Ql KCNQl 5

Pmopiometanocortin POMC 5

RIGUI RIGUI 6

Serotomn receptor, 5HT1 A HTR1A 5

Serotomn receptor, 5HT1B HTR1B 5

Serotomn receptor, 5HT1C HTR1C 5

Serotomn receptor, 5HT1D HTR1D 5

Serotomn receptor, 5HT1E HTR1E 5

Serotomn receptor, 5HT1F HTR1F 5

Serotomn receptor, 5HT2A HTR2A 5

SerotonM receptor, 5HT2B HTR2B 5 Serotomn receptor, 5HT2C HTR2C 5

SerotonM receptor, 5HT3 HTR3 5

SerotonM receptor, 5HT4 HTR4 5

Serotomn receptor, 5HT5 HTR5 5

Serotomn receptor, 5HT6 HTR6 5

Serotomn receptor, 5HT7 HTR7 5

Sodium channel, non-voltage gated 1, alpha SCNNIA 5

Sodium channel, non-voltage gated 1, beta SCNNIB 5

Sodium channel, non-voltage gated 1, gamma SCNNIG 5

Sodium channel, voltage-gated, type 1, beta SCN1B 5 polypeptide

Solute carrier family 5, member 3 SLC5A3 2

Solute carder family 6 (GAMMA- SLC6A1 2

AMINOBUTYRIC ACID transporter), member 1

Solute carrier family 6 (neurotiansmitter SLC6A3 2 transporter, dopamine), member 3

Solute carrier family 6 (neurotiansmitter SLC6A2 2 transporter, noradrenalMe), member 2

Substance P 5

Tyrosine hydroxylase TH 1

UDP-glucuronosyltransferase 1 ugtld, UGTl 1

UDP-glucuronosyltiansferase 2 UGT2 1

Vasoactive Mtestinal polypeptide VIP 5

Vasoactive Mtestinal polypeptide receptor VIPR 5,

dass die mit sexuellen FeMfunktionen in Zusammenhang stehenden Gene ausgewäMt sMd aus:

Liste der Gene HUGO Protem-

Gensymbol funktion

11 beta Hydroxysteroid dehydrogenase 2 HSD11B2

Acetylcholinesterase ACHE

ActivM 6

Adenylate cyclase 1 ADCY1

Adenylate cyclase 2 ADCY2

Adenylate cyclase 3 ADCY3

Adenylate cyclase 4 ADCY4

Adenylate cyclase 5 ADCY5

Adenylate cyclase 6 ADCY6

Adenylate cyclase 7 ADCY7

Adenylate cyclase 8 ADCY8

Adenylate cyclase 9 ADCY9

Adrenergic receptor, alphal ADRA1 5

Adrenergic receptor, alpha2 ADRA2 5

Adrenergic receptor, betal ADRB1 5 Adrenergic receptor, beta2 ADRB2 5

Adrenergic receptor, beta3 ADRB3 5

Adrenoleukodystiophy gene ALD 1 alpha thalassemia gene ATRX 5

Androgen bMding protein ABP 2

Angiopoietin 1 ANGPT1 6

Angiopoietin 2 ANGPT2 6

AngiotensM converting enzyme ACE, DCP1 1

AngiotensM receptor 1 AGTR1 2

AngiotensM receptor 2 AGTR2 2

AngiotensMogen AGT 1

Anti-Mullerian hormone AMH 6

Anti-Mullerian hormone type 2 receptor AMHR2 6

Arginase ARG1 1

Argimne vasopressM AVP 5

Argimne vasopressin receptor 1 A AVPR1A 5

Argimne vasopressin receptor IB AVPR1B 5

Argmine vasopressin receptor 2 AVPR2 5

Atiial natriuretic peptide ANP 6

Atiial natriuretic peptide receptor A NPR1 6

Atriai natriuretic peptide receptor B NPR2 6

Atiial natriuretic peptide receptor C NPR3 6

Autoimmune regulator, AIRE AIRE 4

BCL2-associated X protein BAX 6

Bloom syndrome protein BLM 6

Calcium channel, voltage-dependent, alpha IF CACNA IF 5 subimit

Calcium channel, voltage-dependent, Alpha- CACNA IB 5

1 B (CACNL1A5)

Calcium channel, voltage-dependent, Alpha- CACNA IC 5

I C

Calcium channel, voltage-dependent, Alpha- CACNA ID 5

1 D

Calcium channel, voltage-dependent, Alpha- CACNA 1E 5

1 E (CACNL1A6)

Calcium channel, voltage-dependent, Alpha- CACNA 2 5

2/delta

Calcium channel, voltage-dependent, Beta 1 CACNB1 5

Calcium channel, voltage-dependent, Beta 3 CACNB3 5

Calcium channel, voltage-dependent, CACNG2 5

Neuronal, Gamma

Calcium channel, voltage-dependent, T-type 5

Carbomc anhydrase 3 CA3

Carbomc anhydrase 4 CA4

Carbomc anhydrase, alpha CA1

Carbomc anhydrase, beta CA2

Catechol-o-methyltiansferase COMT CholMe acetyltransferase CHAT 1

Cyclic AMP response element modulator CREM 6

Cyclic AMP-dependent proteM kMase PKA

Cyclic nucleotide phosphodiesterase IB PDE1B

Cyclic nucleotide phosphodiesterase IBl PDE1B1

Cyclic nucleotide phosphodiesteease 2A3 PDE2A3

Cyclic nucleotide phosphodiesterase 3 A PDE3A

Cyclic nucleotide phosphodiesterase 3B PDE3B

Cyclic nucleotide phosphodiesterase 4A PDE4A

Cyclic nucleotide phosphodiesterase 4C PDF4C

Cyclic nucleotide phosphodiesterase 5 A PDE5A

Cyclic nucteotide phosphodiesterase 6A PDE6A

Cyclic nucleotide phosphodiesterase 6B PDE6B

Cyclic nucleotide phosphodiesterase 7 PDE7

Cyclic nucleotide phosphodiesterase 8 PDF8

Cyclic nucleotide phosphodiesterase 9A PDE9A

Cyclooxygenase 1 COXl

Cyclooxygenase 2 COX2

CYPllAl CYPllAl

CYP11B1 CYP11B1

CYP11B2 CYP11B2

CYP17 CYP17

CYP19 CYP19

CYPIAI CYPIAI

CYP1A2 CYP1A2

CYP1B1 CYP1B1

CYP21 CYP21

CYP24 CYP24

CYP27 CYP27

CYP27B1 PDDR

CYP2A1 CYP2A1

CYP2A13 CYP2A13

CYP2A3 CYP2A3

CYP2A6V2 CYP2A6V2

CYP2A7 CYP2A7

CYP2B6 CYP2B6

CYP2C18 CYP2C18

CYP2C19 CYP2C19

CYP2C8 CYP2C8

CYP2C9 CYP2C9

CYP2D6 CYP2D6

CYP2E1 CYP2E1

CYP2F1 CYP2F1

CYP2J2 CYP2J2

CYP3A3 CYP3A3

CYP3A4 CYP3A4

CYP3A5 CYP3A5 CYP3A7 CYP3A7

CYP4A11 CYP4A11

CYP4B1 CYP4B1

CYP4F2 CYP4F2

CYP4F3 CYP4F3

CYP51 CYP51

CYP5A1 CYP5A1

CYP7A CYP7A

CYP8 CYP8

CystatMonase CTH

CystatMone beta synthase CBS

CytidMe deaminase CDA

CytidMe-5-prime-triphosphate synthetase CTPS

CytocMome a

CytocMome c

CytocMome c oxidase, MTCO

CytokMe-suppressive antiinflammatory drug- CSBPl 4 binding protein 1

CytokMe-suppressive antiinflammatory drag- CSBP2 4 bmding protein 2

DAXl nuclear receptor DAXl

Deleted in azoospermia DAZ 6

Diaphanous 2 DIAPH2 5

Disrapted meiotic CDNA 1, homolog DMC1 6

Dopamine beta hydroxylase DBH 1

DopamMe receptors Dl DRD1 5

DopamMe receptors D2 DRD2 5

Dopamine receptors D3 DRD3 5

DopamMe receptors D4 DRD4 5

Dopamine receptors D5 DRD5 5

Electron-transfering-flavoprotein alpha ETFA 2

Electron-transfering-flavoprotein beta ETFB 2

Election-transferring flavoprotem ETFDH 1 dehydrogenase

Endometrial bleeding-associated factor EBAF 6

Endothelin 1 EDN1 5

Endothelin 2 EDN2 5

Endothelin 3 EDN3 5

Endothelin converting enzyme ECEI 5

Endothelin receptor type A EDNRA 5

Endothelin receptor type B EDNRB 5

Enolase ENO1 1

Enoyl CoA isomerase 1

Enterokinase PRSS7, ENTK 1

Epidermal growth factor EGF 6

Epidermal growth factor receptor EGFR 6

Faciogemtal dysplasia FGD1, FGDY 2 Factor XI11 A & B F13A & F13B 4

Fancom anemia, complementation group A FANCA 2

Fertil proteM FTNB 6

Flightless-II, DrosopMla homolog of FLII 6

Folic acid receptor FOLR 6

GlutatMone GSH 2

GlutatMone S-transferase, GSTZI GSTZI 1

G yceraldehyde-3 -phosphate dehydrogenase, GAPDH 1

GAPDH

Glycerol kinase GK 1

Glycinamide ribonucleotide (GAR) GART 1 tiansformylase

Glycogen phosphorylase PYGL 1

GonadotropM releasMg hormone GNRH 6

GonadotropM releasmg hormone receptor GNRHR 6

Guamne nucleotide-bmdmg proteM, aloha GNA11 5

MMbitMg activity polypeptide 1, GNA 11

Guamne nucleotide-bMding proteM, alpha GNA12 5 inMbiting activity polypeptide 2, GNA12

Guamne nucleotide-binding protein, alpha GNA13 5 inMbiting activity polypeptide 3, GNA 13

Hexosamimdase B HEXB 1

Holoprosencephaly 1 HPE1 6

Holoprosencephaly 2 HPE2 6

Holoprosencephaly 3 HPE3 6

Holoprosencephaly 4 HPE4 6

Human placental lactogen CSH1 6

MMbin, alpha INHA 6 inMbin, beta A INHBA 6

InMbM, beta B INHBB 6 lnhibin, beta C NHBC 6

Insulin INS 6

Msulm receptor INSR 6

IP3 Idnase 1

Kallman syndrome gene 1 KALI 6

Lamimn 5, alpha 3 LAMA3 6

LamMM 5, beta 3 LAMB3 6

Lamimn receptor 1 LAMR1 6

Long QT-type 2 potassium Channels LQT2, KCNH2 2

Luteimzing hormone, beta cham LHB 6

MAD (mothers agaMst decapentaplegic, MADH2 6

DrosopMla) homologue 2

Methylmalonyl-CoA mutase MUT 1

Monoamine oxidase A MAOA 1

Monoamine oxidase B MAOB 1

Muscarimc receptor, Ml CHRM1 5

Muscarimc receptor, M2 CHRM2 5 MuscarMic receptor, M3 CHRM3 5

MuscarMic receptor, M4 CHRM4 5

Muscarimc receptor, M5 CHRM5 5 reductase

Neuropeptide Y NPY 5

Neuropeptide Y receptor Yl NPY1R 5

Neuropeptide Y receptor Y2 NPY2R 5

Nitiic oxide synthase 1, NOSl NOSl 1

Nitric oxide synthase 2, NOS2 NOS2 1

Nitric oxide synthase 3, NOS3 NOS3 1

Oncogene ELK1 ELK1 6

Oncogene ELK2 ELK2 6

Paired box homeotic gene 3 PAX3 6

Patched (DrosopMla) homolog, PTCH PTCH 6

Potassium inwardly-rectifying channel Jl KCNJ1 5

Potassium inwardly-rectifying channel Jl 1 KCNJ11 5

Potassium voltage-gated channel AI KCNA1 5

Potassium voltage-gated channel El KCNE1 5

Potassium voltage-gated channel Ql KCNQl 5

Potassium voltage-gated channel Q2 KCNQ2 5

Potassium voltage-gated channel Q3 KCNQ3 5 receptor)

Proopiomelanocortin POMC 5

Prostasin, PRSS8 PRSS8 1

Ribosomal protein S4, X-lMked RPS4X 1

RIGUI RIGUI 6

SerotonM receptor, 5HT1A HTR1A 5

SerotonM receptor, 5HT1B HTR1B 5

SerotonM receptor, 5HT1C HTR1C 5

Serotomn receptor, 5HT1D HTR1D 5

SerotonM receptor, 5HT1E HTR1E 5

SerotonM receptor, 5HT1F HTR1F 5

Serotomn receptor, 5HT2A HTR2A 5

Serotomn receptor, 5HT2B HTR2B 5

Serotomn receptor, 5HT2C HTR2C 5

Serotomn receptor, 5HT3 HTR3 5

Serotomn receptor, 5HT4 HTR4 5

Serotomn receptor, 5HT5 HTR5 5

Serotomn receptor, 5HT6 HTR6 5

Serotomn receptor, 5HT7 HTR7 5

Sodium channel, non-voltage gated 1, alpha SCNNIA 5

Sodium channel, non-voltage gated 1, beta SCNNIB 5

Sodium channel, non-voltage gated 1, gamma SCNNIG 5

Sodium channel, voltage gated, pe V, alpha SCN5A 5 potypeptide

Sodium channel, voltage-gated, type 1, beta SCN1B polypeptide

Claims

Solute carrier family 6 (GAMMA- SLC6A1 2

AMINOBUTYRIC ACID tiansporter), member 1

Solute carrier family 6 (neurotransmitter SLC6A3 2 transporter, dopamMe), member 3

Solute carrier family 6 (neurotiansmifter SLC6A2 2 transporter, noradrenalme), member 2

Sperm prolamme Pl PRMl 6

Sperm prolamme P2 PRM2 6

T-BOX 3 TBX3 6

Testis-specific protein Y TSPY 6

Tyrosine hydroxylase TH 1

UDP-glucuronosyltransferase 1 ugtld, UGT1 1

UDP-glucuronosyltransferase 2 UGT2 1

Vasoactive intestinal polypeptide VIP 5

Vasoactive Mtestinal polypeptide receptor VIPR 5

Zona pellucida glycoprotein 1 ZPl 6

Zona pellucida glycoprotein 2 ZP2 6

Zona pellucida glycoproteM 3 ZP3 6

Zona pellucida receptor tyrosine kMase ZRK 6

Zonadhosin ZAN 6,

wobei die in der Spalte Proteinfunktion aufgeführten Za en bedeuten:

1 Enzym

2 Transport und Lagerang

3 Struktur

4 Immimität

5 Nervale Transmission

6 Wachstum und Differenzierung.

4. Satz von Oligonukleotiden nach Ansprach 1 , M dem Oligonukleotide mit bis zu 5% der aufgeführten Gene mcht enthalten sMd.

5. Satz von Oligonukleotiden nach Ansprach 1 , M dem Oligonukleotide mit mindestens 95% der aufgeführten Gene zusammen mit eMer begrenzten AnzaM zusätzlicher mcht aufgeführter Oligonukleotide,enthalten sMd.

6. Satz von Oligonukleotiden nach Anspruch 1, in dem bis zu 5 % der entsprechenden Oligonukleotide der aufgeführten Gene durch eMen kompletten Satz von 25% anderer mcht aufgeführter Oligonukleotide ersetzt sMd.

7. Satz von Oligonukleotiden fiir eMe Zielgrappe von Genen gemäß mMdestens eMem der voranstehenden Ansprüche, M welcher die chemisch vorbehandelte DNA Sequenz der nachzuweisenden Gene mMdestens zu 95% mit der entsprechend vorbehandelten DNA Sequenz der Gene aus obiger Liste übereinstimmt.

8. Satz von Oligonukleotiden gemäß mMdestens einem der voranstehenden Ansprüche, wobei die chemische Vorbehandlung mittels der Lösung eines Bisulfits, Hydrogensulfits oder Disulfits durchgeführt wird.

9. Satz von Oligonukleotiden gemäß mindestens einem der voranstehenden Ansprüche, bestehend aus einer Untergruppe der Zielgruppe von Genen.

10. Satz von Oligonukleotiden gemäß mindestens einem der voranstehenden Ansprüche, in welchem die Oligonukleotide an bekannten Orten in einem rechtwinkligen oder hexagonalen Raster auf einem Träger angeordnet sind.

11. Satz von Oligonukleotiden gemäß mindestens eMem der voranstehenden Ansprüche, wobei die Oligonukleotide auf einem Träger angeordnet smd, welcher aus Silizium, Glas, Polystyrol, Alumimum, StaM, Eisen, Kupfer, Nickel, Silber oder Gold besteht.

12. Satz von Oligonukleotiden gemäß mindestens einem der voranstehenden Ansprüche, wobei die Oligonukleotidsonden über iMe Masse, Elektrostatik, Ladimg oder Fluoreszenz oder mit Radionukliden markiert smd.

13. Verwendung eines Satzes von Oligonukleotiden gemäß mindestens einem der voranstehenden Ansprüche, M eMer biologischen Untersuchung zum Nachweis besagter Genvarianten Mnsichtlich der DNA-Methylierung.

14. Medizintechmsche Vorrichtung, welche eMen Oligonukleotidsatz gemäß einem oder meMerer der Ansprüche 1 bis 12 enthält, zur Verwendung in emer Untersuchung zum Nachweis besagter Genvarianten, insbesondere als Indikation für ein höheres Risiko emes Patienten oder Mdividuums, Symptome und Folgeerschemungen von Krebs zu entwickeln oder als Indikation für eM höhe- res Risiko der Entwicklung von CNS-FeMfunktion, Beschädigung oder Krankheit oder für den Patienten oder das Mdividuum, Symptome und Konsequenzen von CNS-FeMfunktion, Beschädigimg oder Krankheit zu erfaMen.

15. Medizintechmsche Vorrichtung, welche einen Oligonukleotidsatz gemäß einem oder meMerer der Ansprüche 1 bis 12 enthält, zur Verwendung in einer Untersuchung zum Nachweis unterscMedlicher Genexpression und/oder zur Prognose und zum Management von Patienten, die an dem Risiko leiden, Symptome und Folgeerscheinungen von Krebs zu entwickeln und/oder zur Verwendung M eMer Untersuchung, ob ein Patient oder Individuum möglicherweise CNS-FeMfunktion, Beschädigung oder Krankheit entwickelt oder für den Patienten oder das Mdividuum die WaMscheMliclikeit besteht, Symptome und Konsequenzen von CNS-FeMfunktion, Beschädigung oder Krankheit zu erfaMen.

16. VerfaMen zur Untersuchung des DNA Methylierungsprofils eines Patienten oder Mdividuums, welche das VorhandenseM oder FeMen der relevanten Me- thylierungsvarianten aus der Zielgrappe von Genen nachweist, Mdem eine chemisch vorbehandelte Nukeinsäureprobe von besagtem Patienten oder Individuum an einen Oligonukleotidsatz gemäß einem oder meMerer der Ansprüche 1 bis 12 hybridisiert wird und das Hybridisierungsmuster mit den Variationen in Beziehung gesetzt wird.

17. Verwendung eines Satzes von Oligonukleotiden gemäß einem oder meMerer der Ansprüche 1 bis 12 oder emer Vorrichtung gemäß mMdestens einem der Ansprüche 14 oder 15 zur Prognose und/oder Behandlungsplanung bei Patienten, die an einer gesundheitlichen Beeinträchtigung leiden oder bei denen das Risiko des Eintritts einer gesundheitlichen BeeMträchtigung besteht.

18. Verwendung gemäß Ansprach 17, zur Prognose und/oder Behandlungsplanung bei Patienten, die an den Folgen von unerwünschten Arzneimittelwirkungen leiden oder bei welchen das Risiko des Eintritts von unerwünschten Arzneimittelwirkungen besteht, die an dem Risiko zur Entwicklung von Symptomen und FolgeerscheMungen von Krebs leiden, die von eMem erhöhten Risiko von CNS-FeMfunktion, Beschädigung oder Krankheit betroffen sMd, die an den Folgen von aggressiven Symptomen oder Verhaltensstörungen leiden oder bei welchen das Risiko des EMtritts von aggressiven Symptomen oder Verhaltensstörungen besteht, die an den Folgen von klimschen, psychologischen und sozialen Konsequenzen eMer GeMrnverletzung leiden oder bei welchen das Risiko des EMtritts von Folgen von klimschen, psychologischen und sozialen Konsequenzen e er GeMrnverletzung besteht, die an Demenz und/oder assoziierten Syndromen leiden oder bei welchen das Risiko des EMtritts von Demenz und/oder assoziierten Syndromen besteht, die an Symptomen und Folgen von psychotischen Störungen und PersöMichkeitsstörungen leiden oder bei welchen das Risiko des EMtritts von psychotischen Störungen und PersöMichkeitsstörungen besteht, die an den Symptomen oder Konsequenzen von kardiovaskulärer Krankheit, FeMfunktion oder Schädigung leiden oder bei welchen das Risiko des Eintritts von Symptomen oder Konsequenzen von kardiovaskulärer Krankheit, FeMfunktion oder Schädigung besteht, die an den Symptomen und Konsequenzen von Fehlfunktion, Schädigung oder Erkrankung des Gastrointestinaltrakts leiden oder bei welchen das Risiko des Eintritts von Symptomen und Konsequenzen von FeMfunktion, Schädigimg oder Erkrankung des Gastrointestinaltrakts besteht, die klimsche oder soziale Konsequenzen erfahren, die sich aus FeMfunktion, Schädigung oder Erl ankung des Atmungssystems ergeben oder bei welchen das Risiko von klimschen oder sozialen Konsequenzen besteht, die sich aus FeMfunktion, Schädigung oder Erkrankung des Atmungssystems, die an Symptomen und Folgen von Verletzung, Entzündung, Infektion, Immimität und/oder Rekonvaleszenz leiden oder bei welchen das Risiko des Eintritts von Symptomen und Folgen von Verletzung, Entzündung, M- fektion, Immumtät und/oder Rekonvaleszenz besteht, die an den Folgen von FeMfunktion, Schädigung oder Krankheit des Körpers als Folge einer Abweichung im Entwicklungsprozess leiden oder bei welchen das Risiko des EMtritts von FeMfunktion, Schädigung oder Krankheit des Körpers als Folge einer Abweichung im Entwicklungsprozess besteht, die an den Folgen von einer Fehlfunktion, Schädigimg oder Krankheit der Haut, der MuskeM, des Bindegewebes oder der Knochen leiden oder bei welchen das Risiko des EMtritts von einer FeMfunktion, Schädigung oder Krankheit der Haut, der Muskeln, des Bindegewebes oder der Knochen besteht, die an den Folgen von endokriner und metabolischer FeMfunktion, Schädigung oder Krankheit leiden oder bei welchen das Risiko des Eintritts von endokriner und metabolischer FeMfunktion, Schädigung oder Krankheit besteht, die an den Folgen von Kopfschmerzen leiden oder bei welchen das Risiko des EMtritts von Kopfschmerzen besteht und/oder die an den Folgen von sexuellen FeMfimktionen leiden oder bei welchen das Risiko des EMtritts von sexuellen FeMfimktionen besteht.

19. Verwendung eMes Satzes von Oligonukleotiden gemäß eMem oder meMerer der Ansprüche 1 bis 12 oder eMer Vorrichtung gemäß mMdestens einem der Ansprüche 14 oder 15 zur Vorhersage waMschemlicher therapeutischer Folgen von unerwünschten Arzneimittelwirkungen infolge eMer therapeutischen Intervention und/oder zur Vorhersage waMschemlicher therapeutischer Folgen und nachteiliger Ergebmsse infolge einer therapeutischen Intervention.

20. Verwendung eines Satzes von Oligonukleotiden gemäß e em oder meMerer der Ansprüche 1 bis 12 oder eMer Vorrichtung gemäß mindestens e em der Ansprüche 14 oder 15 zur Vorhersage waMschemlicher therapeutischer Risiken oder von unerwünschten Arzneimittelwirkungen infolge der Einnahme spezifischer Medikamente.

21. Verwendung eines Satzes von Oligonukleotiden gemäß einem oder meMerer der Ansprüche 1 bis 12 oder einer Vonichtung gemäß mindestens eMem der Ansprüche 14 oder 15 zur Vorhersage waMscheinlicher Symptome bei EMtritt von unerwünschten Arzneimittelwirkungen und der WaMscheiMichkeit des Auftretens von Folgekrankheiten bzw. weiteren Symptomen und/oder zur Vorhersage waMscheinlicher Muster von Krankheitssymptomen und der WaMscheiMichkeit des Auftretens von Folgekrankheiten bzw. weiteren Symptomen.

22. Verwendung eines Satzes von Oligonukleotiden gemäß einem oder meMerer der Ansprüche 1 bis 12 oder eMer Vorrichtung gemäß mindestens e em der Ansprüche 14 oder 15 für die Entwicklung neuer Strategien bei der therapeutischen Mtervention und in klimschen Stadien und/oder für die Prognose oder das Management von Patienten, die an sich entwickelnden aggressiven Symptomen oder Verhaltensstörungen leiden oder für besagte Störungen zur Risikogruppe gehören und oder zur Modellierung und Bewertung der Auswirkung von Krankheiten und Gesundheitsvorsorgemaßnahmen auf Mdividuen, Bevöl- kerungsgrappen, Patientengrappen und Populationen und/oder zur Generierang emes Models, um das Risiko für Mdividuen, Bevölkerungsgrappen, Patientengrappen und Populationen einzuschätzen, Symptome und Folgeerscheinungen von Krebs zu entwickeM und/oder zur Generierung eines Models zur Bewer- tung des Risikos der Entwicklung von Symptomen und FolgerscheMungen von CNS-FeMfunktion, Beschädigung oder Krankheit und/oder zur Optimierung der therapeutischen Mtervention.

23. VerfaMen zur Erstellung emes Modells zur Bewertung, ob bei einem Patienten, einem Mdividuum oder einer Bevölkerungsgrappe eMe gesundheitliche Beem- trächtigungen eintreten werden oder waMsche lich eintreten werden, welches folgende Schritte umfasst:

a) man entnimmt eine DNA Probe von Patienten oder Individuen, bei welchen eine gesundheitliche Beeintiächtigung diagnostiziert wurde;

b) man entaimmt eMe DNA Probe aus einer Kontrollgruppe von Mdividuen, bei welchen diagnostisch das Vorliegen dieser gesundheitlichen BeeMträchti- gung ausgescMossen wurde;

c) man analysiert die in a) und b) erhaltenen Proben zur Bestimmung der DNA Methylierungsvariation innerhalb der Zielgrappe von Genen gemäß einem oder meMerer der Ansprüche 1 bis 12;

d) man berechnet die Häufigkeit der Allele mit unterscMedlichem Methylierungsmuster M den Proben aus a) und b);

e) man vergleicht die Häufigkeiten der Allele M den Proben aus a) und b),

f) man führt eine statistische Analyse der unter e) erhalten Ergebmsse durch um eM Modell zur Bewertung des Risikos des EMtritts gesundheitlicher Beeinträchtigungen zu erhalten.

24. VerfaMen gemäß Ansprach 23, wobei die gesundheitliche Beeinträchtigung ausgewäMt ist aus: unerwünschten Arzneimittelwirkungen; Krebs; Symptomen und Folgerscheinungen von CNS-FeMfunktion, Beschädigung oder Krankheit; sich entwickeMde aggressive Symptome oder Verhaltensstörungen; Folgen von klimschen, psychologischen und sozialen Konsequenzen eMer GeMrnverletzung; Demenz und oder assoziierte Syndrome; psychotische Störungen und PersöMichkeitsstörungen; Symptome oder Konsequenzen von kardiovaskulärer Krankheit, FeMfunktion oder Schädigung; Symptome und Konsequenzen von FeMfi nktion, Schädigung oder Erkrankung des GastioMtestMaltrakts; FeMfunktion, Schädigung oder Erkrankung des Atmungssystems; Symptome und Folgen von Verletzung, Entzündung, Infektion, Immumtät und/oder Rekonvaleszenz; FeMfunktion, Schädigung oder Krankheit des Körpers als Folge einer Abweichung im Entwicklungsprozess; FeMfunktion, Schädigung oder Krankheit der Haut, der Muskeln, des B degewebes oder der Knochen; endokrine und metabolische FeMfunktion, Schädigung oder Krankheit; Kopfschmerzen; sexuelle FeMfunktionen.

25. VerfaMen zur Bewertung, ob eM bestimmtes Mdividuum das Risiko des Eintritts gesundheitlicher BeeMträchtigungen trägt, wobei man das Methylie- rungsprofil mit dem gemäß Ansprach 23 oder 24 erstellten Modell vergleicht.

26. VerfaMen gemäß emem oder meMerer der Ansprüche 16 oder 23 bis 25, wobei mindestens einer der ScMitte von eMem Computer ausgeführt wird.

27. Gestalteter Assay für die Nutzung der Einschätzung des Risikos eines Patienten oder Individuums nachteilige Ereigmsse und/oder gesundheitliche Beeinträchtigungen zu erfahren, besagtes Kit beinhaltend:

a) Testmöglichkeiten auf Anwesenheit oder Abwesenheit von verscMüsselten relevanten polymorphen DNA- Variationen der Kerngruppe von Genen, wie sie defmiert smd in den Ansprüchen 1 bis 9 in einer Probe von genomischer DNA.

b) Reagenzien für den Gebrauch im DetektionsverfaMen.

c) Script, das die WaMscheMlichkeit eines Patienten oder Individuums be- scMeibt, unerwünschte Ereigmsse und/oder gesundheitliche BeeMträchtigungen zu erfaMen.

28. Gestalteter Assay für die Nutzimg EMschätzung des Risikos eines Patienten oder Mdividuums nachteilige Ereigmsse und oder gesundheitliche Beeinträchtigungen zu erfaMen gemäß Ansprach 27, dadurch gekennzeichnet, das nachteilige Ereignis oder die gesundheitliche Beeinträchtigung ausgewäMt ist aus: unerwünschten Arzneimittelwirkungen; Krebs; Symptomen und Folger- schemungen von CNS-FeMfunktion, Beschädigung oder Krankheit; sich entwickelnde aggressive Symptome oder Verhaltensstörungen; Folgen von IdMi- schen, psychologischen und sozialen Konsequenzen eMer GeMrnverletzung; Demenz und/oder assoziierte Syndrome; psychotische Störungen und Persönlichkeitsstörungen; Symptome oder Konsequenzen von kardiovaskulärer Krankheit, FeMfunktion oder Schädigung; Symptome und Konsequenzen von FeMfimktion, Schädigung oder Erkrankung des Gastrointestinaltrakts; FeMfunktion, Schädigung oder Erkrankung des Atmungssystems; Symptome und Folgen von Verletzung, Entzündung, Infektion, Immumtät und/oder Rekonvaleszenz; FeMfimktion, Schädigung oder Krankheit des Körpers als Folge einer Abweichung im Entwicklungsprozess; FeMfunktion, Schädigung oder Krankheit der Haut, der Muskeln, des Bindegewebes oder der Knochen; endokrine und metabolische FeMfimktion, Schädigung oder Krankheit; Kopfschmerzen; sexuelle FeMfunktionen.