CA2767377A1

CA2767377A1 - Method for genome editing

Method for genome editing Download PDF

Info

Publication number: CA2767377A1
Authority: CA; Canada
Prior art keywords: sequence; syndrome; disease; cell; type
Prior art date: 2009-07-24
Legal status : Abandoned

Application number

CA2767377A

Other languages

English (en)

French (fr)

Inventor

Edward Weinstein

Xiaoxia Cui

Phil Simmons

Current Assignee

Sigma Aldrich Co LLC

Original Assignee

Sigma Aldrich Co LLC

Priority date

2009-07-24

Filing date

2010-07-23

Publication date

2011-01-27

2010-07-23 Priority claimed from US12/842,217 external-priority patent/US20110023141A1/en

2010-07-23 Priority claimed from US12/842,708 external-priority patent/US20110016540A1/en

2010-07-23 Application filed by Sigma Aldrich Co LLC filed Critical Sigma Aldrich Co LLC

2010-07-23 Priority claimed from US12/842,994 external-priority patent/US20110030072A1/en

2010-07-23 Priority claimed from US12/842,839 external-priority patent/US20110016542A1/en

2010-07-23 Priority claimed from US12/842,219 external-priority patent/US20110023156A1/en

2010-07-23 Priority claimed from US12/842,208 external-priority patent/US20110023140A1/en

2010-07-23 Priority claimed from US12/843,000 external-priority patent/US20120159654A1/en

2010-07-23 Priority claimed from US12/842,978 external-priority patent/US20110023149A1/en

2010-07-23 Priority claimed from US12/842,678 external-priority patent/US20110023145A1/en

2010-07-23 Priority claimed from US12/842,893 external-priority patent/US20110016546A1/en

2010-07-23 Priority claimed from US12/842,993 external-priority patent/US20110023153A1/en

2010-07-23 Priority claimed from US12/842,666 external-priority patent/US20110023144A1/en

2010-07-23 Priority claimed from US12/842,897 external-priority patent/US20110023148A1/en

2010-07-23 Priority claimed from US12/842,204 external-priority patent/US20110023159A1/en

2010-07-23 Priority claimed from US12/842,694 external-priority patent/US20110023146A1/en

2010-07-23 Priority claimed from US12/842,188 external-priority patent/US20110023158A1/en

2010-07-23 Priority claimed from US12/842,620 external-priority patent/US20110016539A1/en

2010-07-23 Priority claimed from US12/842,719 external-priority patent/US20110016541A1/en

2010-07-23 Priority claimed from US12/842,269 external-priority patent/US20110023154A1/en

2010-07-23 Priority claimed from US12/842,980 external-priority patent/US20110023150A1/en

2010-07-23 Priority claimed from US12/842,991 external-priority patent/US20110023152A1/en

2010-07-23 Priority claimed from US12/842,578 external-priority patent/US20110023143A1/en

2010-07-23 Priority claimed from US12/842,982 external-priority patent/US20110023151A1/en

2010-07-23 Priority claimed from US12/842,198 external-priority patent/US20110023139A1/en

2010-07-23 Priority claimed from US12/842,999 external-priority patent/US20110016543A1/en

2010-07-23 Priority claimed from US12/842,713 external-priority patent/US20110023147A1/en

2010-07-23 Priority claimed from US12/842,886 external-priority patent/US20110023157A1/en

2010-07-23 Priority claimed from US12/842,976 external-priority patent/US20120159653A1/en

2011-01-27 Publication of CA2767377A1 publication Critical patent/CA2767377A1/en

Status Abandoned legal-status Critical Current

Links

238000000034 method Methods 0.000 title claims abstract description 86
238000010362 genome editing Methods 0.000 title description 9
230000002759 chromosomal effect Effects 0.000 claims abstract description 137
108010017070 Zinc Finger Nucleases Proteins 0.000 claims abstract description 82
241001465754 Metazoa Species 0.000 claims abstract description 71
210000004027 cell Anatomy 0.000 claims description 115
238000003776 cleavage reaction Methods 0.000 claims description 82
230000007017 scission Effects 0.000 claims description 82
102000040430 polynucleotide Human genes 0.000 claims description 81
108091033319 polynucleotide Proteins 0.000 claims description 81
239000002157 polynucleotide Substances 0.000 claims description 81
150000007523 nucleic acids Chemical class 0.000 claims description 60
102000039446 nucleic acids Human genes 0.000 claims description 48
108020004707 nucleic acids Proteins 0.000 claims description 48
210000001161 mammalian embryo Anatomy 0.000 claims description 43
230000010354 integration Effects 0.000 claims description 40
239000002773 nucleotide Substances 0.000 claims description 40
125000003729 nucleotide group Chemical group 0.000 claims description 40
238000011144 upstream manufacturing Methods 0.000 claims description 33
230000035772 mutation Effects 0.000 claims description 28
230000014509 gene expression Effects 0.000 claims description 22
230000008569 process Effects 0.000 claims description 19
230000008859 change Effects 0.000 claims description 13
241000282414 Homo sapiens Species 0.000 claims description 12
238000012258 culturing Methods 0.000 claims description 9
230000006780 non-homologous end joining Effects 0.000 claims description 8
230000034431 double-strand break repair via homologous recombination Effects 0.000 claims description 6
210000000130 stem cell Anatomy 0.000 claims description 3
244000144972 livestock Species 0.000 claims description 2
210000004748 cultured cell Anatomy 0.000 claims 2
241000283984 Rodentia Species 0.000 claims 1
241000251539 Vertebrata <Metazoa> Species 0.000 claims 1
230000002538 fungal effect Effects 0.000 claims 1
210000005260 human cell Anatomy 0.000 claims 1
210000004962 mammalian cell Anatomy 0.000 claims 1
208000037265 diseases, disorders, signs and symptoms Diseases 0.000 description 129
108090000623 proteins and genes Proteins 0.000 description 105
201000010099 disease Diseases 0.000 description 71
208000035475 disorder Diseases 0.000 description 57
238000012217 deletion Methods 0.000 description 43
230000037430 deletion Effects 0.000 description 43
102000004169 proteins and genes Human genes 0.000 description 43
206010011878 Deafness Diseases 0.000 description 41
231100000895 deafness Toxicity 0.000 description 41
230000007812 deficiency Effects 0.000 description 41
208000016354 hearing loss disease Diseases 0.000 description 41
235000018102 proteins Nutrition 0.000 description 38
-1 immunoliposomes Substances 0.000 description 37
206010009944 Colon cancer Diseases 0.000 description 33
108020004414 DNA Proteins 0.000 description 32
230000027455 binding Effects 0.000 description 29
108091028043 Nucleic acid sequence Proteins 0.000 description 28
HCHKCACWOHOZIP-UHFFFAOYSA-N Zinc Chemical compound [Zn] HCHKCACWOHOZIP-UHFFFAOYSA-N 0.000 description 28
239000012634 fragment Substances 0.000 description 28
229910052725 zinc Inorganic materials 0.000 description 28
239000011701 zinc Substances 0.000 description 28
208000001333 Colorectal Neoplasms Diseases 0.000 description 27
206010012601 diabetes mellitus Diseases 0.000 description 27
208000031229 Cardiomyopathies Diseases 0.000 description 26
208000010693 Charcot-Marie-Tooth Disease Diseases 0.000 description 26
210000004369 blood Anatomy 0.000 description 25
239000008280 blood Substances 0.000 description 25
101000894525 Homo sapiens Transforming growth factor-beta-induced protein ig-h3 Proteins 0.000 description 24
102100021398 Transforming growth factor-beta-induced protein ig-h3 Human genes 0.000 description 24
239000000178 monomer Substances 0.000 description 22
102100023600 Fibroblast growth factor receptor 2 Human genes 0.000 description 20
208000011580 syndromic disease Diseases 0.000 description 20
206010006187 Breast cancer Diseases 0.000 description 19
208000026310 Breast neoplasm Diseases 0.000 description 19
208000002177 Cataract Diseases 0.000 description 19
230000000392 somatic effect Effects 0.000 description 18
230000001419 dependent effect Effects 0.000 description 17
101000889125 Homo sapiens Gap junction beta-6 protein Proteins 0.000 description 16
101000635944 Homo sapiens Myelin protein P0 Proteins 0.000 description 16
102100030741 Myelin protein P0 Human genes 0.000 description 16
102100037156 Gap junction beta-2 protein Human genes 0.000 description 15
101000827688 Homo sapiens Fibroblast growth factor receptor 2 Proteins 0.000 description 15
206010010356 Congenital anomaly Diseases 0.000 description 14
108090000790 Enzymes Proteins 0.000 description 14
102000004190 Enzymes Human genes 0.000 description 14
229940088598 enzyme Drugs 0.000 description 14
201000002200 Congenital disorder of glycosylation Diseases 0.000 description 13
101000603323 Homo sapiens Nuclear receptor subfamily 0 group B member 1 Proteins 0.000 description 13
102100039019 Nuclear receptor subfamily 0 group B member 1 Human genes 0.000 description 13
208000006673 asthma Diseases 0.000 description 13
102100040191 Alpha-tectorin Human genes 0.000 description 12
208000024827 Alzheimer disease Diseases 0.000 description 12
102100025064 Cellular tumor antigen p53 Human genes 0.000 description 12
102100024411 Ganglioside-induced differentiation-associated protein 1 Human genes 0.000 description 12
101000889766 Homo sapiens Alpha-tectorin Proteins 0.000 description 12
101000954092 Homo sapiens Gap junction beta-2 protein Proteins 0.000 description 12
GNJCUHZOSOYIEC-GAROZEBRSA-N Morphine-6-glucuronide Chemical compound O([C@H]1C=C[C@H]2[C@H]3CC=4C5=C(C(=CC=4)O)O[C@@H]1[C@]52CCN3C)[C@@H]1O[C@H](C(O)=O)[C@@H](O)[C@H](O)[C@H]1O GNJCUHZOSOYIEC-GAROZEBRSA-N 0.000 description 12
NOESYZHRGYRDHS-UHFFFAOYSA-N insulin Chemical compound N1C(=O)C(NC(=O)C(CCC(N)=O)NC(=O)C(CCC(O)=O)NC(=O)C(C(C)C)NC(=O)C(NC(=O)CN)C(C)CC)CSSCC(C(NC(CO)C(=O)NC(CC(C)C)C(=O)NC(CC=2C=CC(O)=CC=2)C(=O)NC(CCC(N)=O)C(=O)NC(CC(C)C)C(=O)NC(CCC(O)=O)C(=O)NC(CC(N)=O)C(=O)NC(CC=2C=CC(O)=CC=2)C(=O)NC(CSSCC(NC(=O)C(C(C)C)NC(=O)C(CC(C)C)NC(=O)C(CC=2C=CC(O)=CC=2)NC(=O)C(CC(C)C)NC(=O)C(C)NC(=O)C(CCC(O)=O)NC(=O)C(C(C)C)NC(=O)C(CC(C)C)NC(=O)C(CC=2NC=NC=2)NC(=O)C(CO)NC(=O)CNC2=O)C(=O)NCC(=O)NC(CCC(O)=O)C(=O)NC(CCCNC(N)=N)C(=O)NCC(=O)NC(CC=3C=CC=CC=3)C(=O)NC(CC=3C=CC=CC=3)C(=O)NC(CC=3C=CC(O)=CC=3)C(=O)NC(C(C)O)C(=O)N3C(CCC3)C(=O)NC(CCCCN)C(=O)NC(C)C(O)=O)C(=O)NC(CC(N)=O)C(O)=O)=O)NC(=O)C(C(C)CC)NC(=O)C(CO)NC(=O)C(C(C)O)NC(=O)C1CSSCC2NC(=O)C(CC(C)C)NC(=O)C(NC(=O)C(CCC(N)=O)NC(=O)C(CC(N)=O)NC(=O)C(NC(=O)C(N)CC=1C=CC=CC=1)C(C)C)CC1=CN=CN1 NOESYZHRGYRDHS-UHFFFAOYSA-N 0.000 description 12
239000003550 marker Substances 0.000 description 12
108020004999 messenger RNA Proteins 0.000 description 12
201000006892 Charcot-Marie-Tooth disease type 1 Diseases 0.000 description 11
101000711846 Homo sapiens Transcription factor SOX-9 Proteins 0.000 description 11
102100034204 Transcription factor SOX-9 Human genes 0.000 description 11
102100023931 Transcriptional regulator ATRX Human genes 0.000 description 11
210000000349 chromosome Anatomy 0.000 description 11
208000002169 ectodermal dysplasia Diseases 0.000 description 11
208000031068 ectodermal dysplasia syndrome Diseases 0.000 description 11
230000001969 hypertrophic effect Effects 0.000 description 11
102100024643 ATP-binding cassette sub-family D member 1 Human genes 0.000 description 10
102100030988 Angiotensin-converting enzyme Human genes 0.000 description 10
108010042407 Endonucleases Proteins 0.000 description 10
102100039397 Gap junction beta-3 protein Human genes 0.000 description 10
101000598987 Homo sapiens Medium-wave-sensitive opsin 1 Proteins 0.000 description 10
101000928339 Homo sapiens Progressive ankylosis protein homolog Proteins 0.000 description 10
102100036812 Progressive ankylosis protein homolog Human genes 0.000 description 10
102100027881 Tumor protein 63 Human genes 0.000 description 10
102100031834 Unconventional myosin-VI Human genes 0.000 description 10
208000007502 anemia Diseases 0.000 description 10
230000000694 effects Effects 0.000 description 10
239000013612 plasmid Substances 0.000 description 10
239000000047 product Substances 0.000 description 10
108091008146 restriction endonucleases Proteins 0.000 description 10
201000011452 Adrenoleukodystrophy Diseases 0.000 description 9
102100022704 Amyloid-beta precursor protein Human genes 0.000 description 9
102100032187 Androgen receptor Human genes 0.000 description 9
208000029448 Chylomicron retention disease Diseases 0.000 description 9
102100027842 Fibroblast growth factor receptor 3 Human genes 0.000 description 9
102100039401 Gap junction beta-6 protein Human genes 0.000 description 9
101000721661 Homo sapiens Cellular tumor antigen p53 Proteins 0.000 description 9
101001030243 Homo sapiens Myosin-7 Proteins 0.000 description 9
101000617536 Homo sapiens Presenilin-1 Proteins 0.000 description 9
101001104102 Homo sapiens X-linked retinitis pigmentosa GTPase regulator Proteins 0.000 description 9
102100040243 Microtubule-associated protein tau Human genes 0.000 description 9
102100038934 Myosin-7 Human genes 0.000 description 9
102100022033 Presenilin-1 Human genes 0.000 description 9
239000011543 agarose gel Substances 0.000 description 9
235000001014 amino acid Nutrition 0.000 description 9
238000003556 assay Methods 0.000 description 9
230000001105 regulatory effect Effects 0.000 description 9
TVZRAEYQIKYCPH-UHFFFAOYSA-N 3-(trimethylsilyl)propane-1-sulfonic acid Chemical compound C[Si](C)(C)CCCS(O)(=O)=O TVZRAEYQIKYCPH-UHFFFAOYSA-N 0.000 description 8
108091026890 Coding region Proteins 0.000 description 8
206010012289 Dementia Diseases 0.000 description 8
102100029792 Dentin sialophosphoprotein Human genes 0.000 description 8
102100030863 Eyes absent homolog 1 Human genes 0.000 description 8
101000865404 Homo sapiens Dentin sialophosphoprotein Proteins 0.000 description 8
101000938435 Homo sapiens Eyes absent homolog 1 Proteins 0.000 description 8
101000829958 Homo sapiens N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase Proteins 0.000 description 8
101001109465 Homo sapiens NACHT, LRR and PYD domains-containing protein 3 Proteins 0.000 description 8
101000701363 Homo sapiens Phospholipid-transporting ATPase IC Proteins 0.000 description 8
101000645320 Homo sapiens Titin Proteins 0.000 description 8
101000801040 Homo sapiens Transmembrane channel-like protein 1 Proteins 0.000 description 8
101000987003 Homo sapiens Tumor protein 63 Proteins 0.000 description 8
102100035576 Long-wave-sensitive opsin 1 Human genes 0.000 description 8
108010049137 Member 1 Subfamily D ATP Binding Cassette Transporter Proteins 0.000 description 8
102100039124 Methyl-CpG-binding protein 2 Human genes 0.000 description 8
102100023315 N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase Human genes 0.000 description 8
102100022691 NACHT, LRR and PYD domains-containing protein 3 Human genes 0.000 description 8
102100022219 NF-kappa-B essential modulator Human genes 0.000 description 8
102100029441 Nucleotide-binding oligomerization domain-containing protein 2 Human genes 0.000 description 8
102100037506 Paired box protein Pax-6 Human genes 0.000 description 8
102100030448 Phospholipid-transporting ATPase IC Human genes 0.000 description 8
241000700159 Rattus Species 0.000 description 8
102100025368 Runt-related transcription factor 2 Human genes 0.000 description 8
102100031075 Serine/threonine-protein kinase Chk2 Human genes 0.000 description 8
102100030113 Sulfate transporter Human genes 0.000 description 8
102100026508 Tafazzin Human genes 0.000 description 8
102100026260 Titin Human genes 0.000 description 8
102100033690 Transmembrane channel-like protein 1 Human genes 0.000 description 8
102100032454 Transmembrane protease serine 3 Human genes 0.000 description 8
102100029290 Transthyretin Human genes 0.000 description 8
102100031835 Unconventional myosin-VIIa Human genes 0.000 description 8
102100040092 X-linked retinitis pigmentosa GTPase regulator Human genes 0.000 description 8
229940024606 amino acid Drugs 0.000 description 8
150000001413 amino acids Chemical class 0.000 description 8
210000002459 blastocyst Anatomy 0.000 description 8
208000029742 colonic neoplasm Diseases 0.000 description 8
239000000539 dimer Substances 0.000 description 8
210000002257 embryonic structure Anatomy 0.000 description 8
238000003780 insertion Methods 0.000 description 8
230000037431 insertion Effects 0.000 description 8
230000000750 progressive effect Effects 0.000 description 8
102000004888 Aquaporin 1 Human genes 0.000 description 7
108090001004 Aquaporin 1 Proteins 0.000 description 7
208000003923 Hereditary Corneal Dystrophies Diseases 0.000 description 7
101000619542 Homo sapiens E3 ubiquitin-protein ligase parkin Proteins 0.000 description 7
101000889136 Homo sapiens Gap junction beta-3 protein Proteins 0.000 description 7
101000764274 Homo sapiens Troponin T, fast skeletal muscle Proteins 0.000 description 7
101001128474 Homo sapiens Unconventional myosin-VI Proteins 0.000 description 7
101000854936 Homo sapiens Visual system homeobox 1 Proteins 0.000 description 7
102100037812 Medium-wave-sensitive opsin 1 Human genes 0.000 description 7
102100022365 NAD(P)H dehydrogenase [quinone] 1 Human genes 0.000 description 7
101710163270 Nuclease Proteins 0.000 description 7
102100020673 Visual system homeobox 1 Human genes 0.000 description 7
DZHSAHHDTRWUTF-SIQRNXPUSA-N amyloid-beta polypeptide 42 Chemical compound C([C@@H](C(=O)N[C@@H](C)C(=O)N[C@@H](CCC(O)=O)C(=O)N[C@@H](CC(O)=O)C(=O)N[C@H](C(=O)NCC(=O)N[C@@H](CO)C(=O)N[C@@H](CC(N)=O)C(=O)N[C@@H](CCCCN)C(=O)NCC(=O)N[C@@H](C)C(=O)N[C@H](C(=O)N[C@@H]([C@@H](C)CC)C(=O)NCC(=O)N[C@@H](CC(C)C)C(=O)N[C@@H](CCSC)C(=O)N[C@@H](C(C)C)C(=O)NCC(=O)NCC(=O)N[C@@H](C(C)C)C(=O)N[C@@H](C(C)C)C(=O)N[C@@H]([C@@H](C)CC)C(=O)N[C@@H](C)C(O)=O)[C@@H](C)CC)C(C)C)NC(=O)[C@H](CC=1C=CC=CC=1)NC(=O)[C@@H](NC(=O)[C@H](CC(C)C)NC(=O)[C@H](CCCCN)NC(=O)[C@H](CCC(N)=O)NC(=O)[C@H](CC=1N=CNC=1)NC(=O)[C@H](CC=1N=CNC=1)NC(=O)[C@@H](NC(=O)[C@H](CCC(O)=O)NC(=O)[C@H](CC=1C=CC(O)=CC=1)NC(=O)CNC(=O)[C@H](CO)NC(=O)[C@H](CC(O)=O)NC(=O)[C@H](CC=1N=CNC=1)NC(=O)[C@H](CCCNC(N)=N)NC(=O)[C@H](CC=1C=CC=CC=1)NC(=O)[C@H](CCC(O)=O)NC(=O)[C@H](C)NC(=O)[C@@H](N)CC(O)=O)C(C)C)C(C)C)C1=CC=CC=C1 DZHSAHHDTRWUTF-SIQRNXPUSA-N 0.000 description 7
206010002026 amyotrophic lateral sclerosis Diseases 0.000 description 7
208000003571 choroideremia Diseases 0.000 description 7
206010011005 corneal dystrophy Diseases 0.000 description 7
238000001514 detection method Methods 0.000 description 7
230000006870 function Effects 0.000 description 7
102100024645 ATP-binding cassette sub-family C member 8 Human genes 0.000 description 6
206010001557 Albinism Diseases 0.000 description 6
102100032197 Alpha-crystallin A chain Human genes 0.000 description 6
206010003645 Atopy Diseases 0.000 description 6
102100021264 Band 3 anion transport protein Human genes 0.000 description 6
201000000046 Beckwith-Wiedemann syndrome Diseases 0.000 description 6
102100025399 Breast cancer type 2 susceptibility protein Human genes 0.000 description 6
208000016560 COFS syndrome Diseases 0.000 description 6
102100032212 Caveolin-3 Human genes 0.000 description 6
206010008635 Cholestasis Diseases 0.000 description 6
102100026278 Cysteine sulfinic acid decarboxylase Human genes 0.000 description 6
102100024332 Cytochrome P450 11B1, mitochondrial Human genes 0.000 description 6
102100025621 Cytochrome b-245 heavy chain Human genes 0.000 description 6
102100020802 D(1A) dopamine receptor Human genes 0.000 description 6
102100031867 DNA excision repair protein ERCC-6 Human genes 0.000 description 6
102100028843 DNA mismatch repair protein Mlh1 Human genes 0.000 description 6
102100034157 DNA mismatch repair protein Msh2 Human genes 0.000 description 6
102100038199 Desmoplakin Human genes 0.000 description 6
206010013801 Duchenne Muscular Dystrophy Diseases 0.000 description 6
102100022207 E3 ubiquitin-protein ligase parkin Human genes 0.000 description 6
102100037354 Ectodysplasin-A Human genes 0.000 description 6
102000004533 Endonucleases Human genes 0.000 description 6
101000661485 Escherichia coli (strain K12) Cysteine desulfurase Proteins 0.000 description 6
101000956229 Escherichia coli (strain K12) Cysteine desulfurase CsdA Proteins 0.000 description 6
102100030910 Eyes absent homolog 4 Human genes 0.000 description 6
102100031509 Fibrillin-1 Human genes 0.000 description 6
102100021084 Forkhead box protein C1 Human genes 0.000 description 6
102100035137 Forkhead box protein L2 Human genes 0.000 description 6
102100035379 Growth/differentiation factor 5 Human genes 0.000 description 6
102100022057 Hepatocyte nuclear factor 1-alpha Human genes 0.000 description 6
102100027893 Homeobox protein Nkx-2.1 Human genes 0.000 description 6
101000760570 Homo sapiens ATP-binding cassette sub-family C member 8 Proteins 0.000 description 6
101000920937 Homo sapiens Alpha-crystallin A chain Proteins 0.000 description 6
101000869042 Homo sapiens Caveolin-3 Proteins 0.000 description 6
101000851684 Homo sapiens Chimeric ERCC6-PGBD3 protein Proteins 0.000 description 6
101000855583 Homo sapiens Cysteine sulfinic acid decarboxylase Proteins 0.000 description 6
101000931925 Homo sapiens D(1A) dopamine receptor Proteins 0.000 description 6
101000920783 Homo sapiens DNA excision repair protein ERCC-6 Proteins 0.000 description 6
101000880080 Homo sapiens Ectodysplasin-A Proteins 0.000 description 6
101000938422 Homo sapiens Eyes absent homolog 4 Proteins 0.000 description 6
101000846893 Homo sapiens Fibrillin-1 Proteins 0.000 description 6
101000818310 Homo sapiens Forkhead box protein C1 Proteins 0.000 description 6
101001023988 Homo sapiens Growth/differentiation factor 5 Proteins 0.000 description 6
101001045751 Homo sapiens Hepatocyte nuclear factor 1-alpha Proteins 0.000 description 6
101001137074 Homo sapiens Long-wave-sensitive opsin 1 Proteins 0.000 description 6
101001043594 Homo sapiens Low-density lipoprotein receptor-related protein 5 Proteins 0.000 description 6
101001033726 Homo sapiens Methyl-CpG-binding protein 2 Proteins 0.000 description 6
101000891579 Homo sapiens Microtubule-associated protein tau Proteins 0.000 description 6
101001116514 Homo sapiens Myotubularin-related protein 13 Proteins 0.000 description 6
101000973618 Homo sapiens NF-kappa-B essential modulator Proteins 0.000 description 6
101001131829 Homo sapiens P protein Proteins 0.000 description 6
101001000631 Homo sapiens Peripheral myelin protein 22 Proteins 0.000 description 6
101000611427 Homo sapiens Polyglutamine-binding protein 1 Proteins 0.000 description 6
101000695187 Homo sapiens Protein patched homolog 1 Proteins 0.000 description 6
101000936922 Homo sapiens Sarcoplasmic/endoplasmic reticulum calcium ATPase 2 Proteins 0.000 description 6
101000777277 Homo sapiens Serine/threonine-protein kinase Chk2 Proteins 0.000 description 6
101000835595 Homo sapiens Tafazzin Proteins 0.000 description 6
101000626163 Homo sapiens Tenascin-X Proteins 0.000 description 6
101000798700 Homo sapiens Transmembrane protease serine 3 Proteins 0.000 description 6
101000679897 Homo sapiens Troponin I, fast skeletal muscle Proteins 0.000 description 6
101000611023 Homo sapiens Tumor necrosis factor receptor superfamily member 6 Proteins 0.000 description 6
101000920026 Homo sapiens Tumor necrosis factor receptor superfamily member EDAR Proteins 0.000 description 6
101001128468 Homo sapiens Unconventional myosin-VIIa Proteins 0.000 description 6
101001026573 Homo sapiens cAMP-dependent protein kinase type I-alpha regulatory subunit Proteins 0.000 description 6
102100023915 Insulin Human genes 0.000 description 6
108090001061 Insulin Proteins 0.000 description 6
208000027747 Kennedy disease Diseases 0.000 description 6
102100021926 Low-density lipoprotein receptor-related protein 5 Human genes 0.000 description 6
241000699666 Mus <mouse, genus> Species 0.000 description 6
102100024960 Myotubularin-related protein 13 Human genes 0.000 description 6
102100035917 Peripheral myelin protein 22 Human genes 0.000 description 6
102100035832 Phakinin Human genes 0.000 description 6
102100033616 Phospholipid-transporting ATPase ABCA1 Human genes 0.000 description 6
102100040748 Polyglutamine-binding protein 1 Human genes 0.000 description 6
102100032702 Protein jagged-1 Human genes 0.000 description 6
102100028680 Protein patched homolog 1 Human genes 0.000 description 6
102100027732 Sarcoplasmic/endoplasmic reticulum calcium ATPase 2 Human genes 0.000 description 6
102100024549 Tenascin-X Human genes 0.000 description 6
102100022157 Troponin I, fast skeletal muscle Human genes 0.000 description 6
102100040403 Tumor necrosis factor receptor superfamily member 6 Human genes 0.000 description 6
102100030810 Tumor necrosis factor receptor superfamily member EDAR Human genes 0.000 description 6
101000868086 Unknown prokaryotic organism Cysteine/Cysteine sulfinic acid decarboxylase Proteins 0.000 description 6
102100026383 Vasopressin-neurophysin 2-copeptin Human genes 0.000 description 6
201000005823 autosomal dominant nonsyndromic deafness 12 Diseases 0.000 description 6
208000034083 autosomal dominant nonsyndromic hearing loss 12 Diseases 0.000 description 6
208000034084 autosomal dominant nonsyndromic hearing loss 3A Diseases 0.000 description 6
201000001038 autosomal recessive chronic granulomatous disease cytochrome b-positive type II Diseases 0.000 description 6
201000006715 brachydactyly Diseases 0.000 description 6
102100037490 cAMP-dependent protein kinase type I-alpha regulatory subunit Human genes 0.000 description 6
230000007870 cholestasis Effects 0.000 description 6
231100000359 cholestasis Toxicity 0.000 description 6
208000029078 coronary artery disease Diseases 0.000 description 6
230000006801 homologous recombination Effects 0.000 description 6
238000002744 homologous recombination Methods 0.000 description 6
229940125396 insulin Drugs 0.000 description 6
230000000670 limiting effect Effects 0.000 description 6
102000004233 multidrug resistance protein 3 Human genes 0.000 description 6
108090000743 multidrug resistance protein 3 Proteins 0.000 description 6
230000006798 recombination Effects 0.000 description 6
238000005215 recombination Methods 0.000 description 6
238000007894 restriction fragment length polymorphism technique Methods 0.000 description 6
239000000523 sample Substances 0.000 description 6
208000002491 severe combined immunodeficiency Diseases 0.000 description 6
241000894007 species Species 0.000 description 6
238000001890 transfection Methods 0.000 description 6
102100030374 Actin, cytoplasmic 2 Human genes 0.000 description 5
101710137189 Amyloid-beta A4 protein Proteins 0.000 description 5
101710151993 Amyloid-beta precursor protein Proteins 0.000 description 5
206010003591 Ataxia Diseases 0.000 description 5
206010003805 Autism Diseases 0.000 description 5
208000020706 Autistic disease Diseases 0.000 description 5
108700020462 BRCA2 Proteins 0.000 description 5
208000012904 Bartter disease Diseases 0.000 description 5
208000010062 Bartter syndrome Diseases 0.000 description 5
101100290380 Caenorhabditis elegans cel-1 gene Proteins 0.000 description 5
102100040496 Collagen alpha-2(VIII) chain Human genes 0.000 description 5
102100029362 Cone-rod homeobox protein Human genes 0.000 description 5
108010051219 Cre recombinase Proteins 0.000 description 5
102100031089 Cystinosin Human genes 0.000 description 5
102100031648 Dynein axonemal heavy chain 5 Human genes 0.000 description 5
208000014094 Dystonic disease Diseases 0.000 description 5
101710182389 Fibroblast growth factor receptor 2 Proteins 0.000 description 5
101710182396 Fibroblast growth factor receptor 3 Proteins 0.000 description 5
206010016654 Fibrosis Diseases 0.000 description 5
102100027581 Forkhead box protein P3 Human genes 0.000 description 5
102100021337 Gap junction alpha-1 protein Human genes 0.000 description 5
102100034471 H(+)/Cl(-) exchange transporter 5 Human genes 0.000 description 5
101000866618 Homo sapiens 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase Proteins 0.000 description 5
101000773237 Homo sapiens Actin, cytoplasmic 2 Proteins 0.000 description 5
101000749886 Homo sapiens Collagen alpha-2(VIII) chain Proteins 0.000 description 5
101000919370 Homo sapiens Cone-rod homeobox protein Proteins 0.000 description 5
101000922034 Homo sapiens Cystinosin Proteins 0.000 description 5
101000761960 Homo sapiens Cytochrome P450 11B1, mitochondrial Proteins 0.000 description 5
101001107795 Homo sapiens Cytosolic Fe-S cluster assembly factor NUBP2 Proteins 0.000 description 5
101000861452 Homo sapiens Forkhead box protein P3 Proteins 0.000 description 5
101000812677 Homo sapiens Nucleotide pyrophosphatase Proteins 0.000 description 5
101001125026 Homo sapiens Nucleotide-binding oligomerization domain-containing protein 2 Proteins 0.000 description 5
101000994648 Homo sapiens Potassium voltage-gated channel subfamily KQT member 4 Proteins 0.000 description 5
101001123332 Homo sapiens Proteoglycan 4 Proteins 0.000 description 5
101000899806 Homo sapiens Retinal guanylyl cyclase 1 Proteins 0.000 description 5
101000801643 Homo sapiens Retinal-specific phospholipid-transporting ATPase ABCA4 Proteins 0.000 description 5
101000694017 Homo sapiens Sodium channel protein type 5 subunit alpha Proteins 0.000 description 5
101000896517 Homo sapiens Steroid 17-alpha-hydroxylase/17,20 lyase Proteins 0.000 description 5
101000764260 Homo sapiens Troponin T, cardiac muscle Proteins 0.000 description 5
206010021133 Hypoventilation Diseases 0.000 description 5
208000009289 Jackson-Weiss syndrome Diseases 0.000 description 5
102100035878 Krev interaction trapped protein 1 Human genes 0.000 description 5
102100026808 Mitochondrial import inner membrane translocase subunit Tim8 A Human genes 0.000 description 5
102100024964 Neural cell adhesion molecule L1 Human genes 0.000 description 5
102100039306 Nucleotide pyrophosphatase Human genes 0.000 description 5
102100036088 Pituitary homeobox 3 Human genes 0.000 description 5
102100027637 Plasma protease C1 inhibitor Human genes 0.000 description 5
102100028965 Proteoglycan 4 Human genes 0.000 description 5
102100022663 Retinal guanylyl cyclase 1 Human genes 0.000 description 5
102100033617 Retinal-specific phospholipid-transporting ATPase ABCA4 Human genes 0.000 description 5
102100037282 Secretoglobin family 1D member 4 Human genes 0.000 description 5
102100035476 Serum paraoxonase/arylesterase 1 Human genes 0.000 description 5
102100027198 Sodium channel protein type 5 subunit alpha Human genes 0.000 description 5
102100021719 Steroid 17-alpha-hydroxylase/17,20 lyase Human genes 0.000 description 5
102100026893 Troponin T, cardiac muscle Human genes 0.000 description 5
102100038102 Whirlin Human genes 0.000 description 5
125000003275 alpha amino acid group Chemical group 0.000 description 5
201000007945 amelogenesis imperfecta Diseases 0.000 description 5
125000000539 amino acid group Chemical group 0.000 description 5
206010002022 amyloidosis Diseases 0.000 description 5
208000004698 branchiootic syndrome Diseases 0.000 description 5
208000016532 chronic granulomatous disease Diseases 0.000 description 5
230000007882 cirrhosis Effects 0.000 description 5
208000019425 cirrhosis of liver Diseases 0.000 description 5
201000006754 cone-rod dystrophy Diseases 0.000 description 5
208000010118 dystonia Diseases 0.000 description 5
230000001404 mediated effect Effects 0.000 description 5
108091008581 nuclear androgen receptors Proteins 0.000 description 5
108091032973 (ribonucleotides)n+m Proteins 0.000 description 4
102100028359 ADP-ribosylation factor-like protein 6 Human genes 0.000 description 4
208000010507 Adenocarcinoma of Lung Diseases 0.000 description 4
102100036799 Adhesion G-protein coupled receptor V1 Human genes 0.000 description 4
208000008190 Agammaglobulinemia Diseases 0.000 description 4
102100022524 Alpha-1-antichymotrypsin Human genes 0.000 description 4
102100026882 Alpha-synuclein Human genes 0.000 description 4
102100030343 Antigen peptide transporter 2 Human genes 0.000 description 4
101100345345 Arabidopsis thaliana MGD1 gene Proteins 0.000 description 4
208000000659 Autoimmune lymphoproliferative syndrome Diseases 0.000 description 4
208000035674 Autosomal dominant Charcot-Marie-Tooth disease type 2G Diseases 0.000 description 4
108700020463 BRCA1 Proteins 0.000 description 4
206010004146 Basal cell carcinoma Diseases 0.000 description 4
201000006935 Becker muscular dystrophy Diseases 0.000 description 4
102100029388 Beta-crystallin B2 Human genes 0.000 description 4
102100028282 Bile salt export pump Human genes 0.000 description 4
206010005003 Bladder cancer Diseases 0.000 description 4
102100025401 Breast cancer type 1 susceptibility protein Human genes 0.000 description 4
102100032912 CD44 antigen Human genes 0.000 description 4
102100034279 Calcium-binding mitochondrial carrier protein Aralar2 Human genes 0.000 description 4
102100036806 Carboxylesterase 5A Human genes 0.000 description 4
101710117416 Carboxylesterase 5A Proteins 0.000 description 4
201000006868 Charcot-Marie-Tooth disease type 3 Diseases 0.000 description 4
108020004705 Codon Proteins 0.000 description 4
108010024682 Core Binding Factor Alpha 1 Subunit Proteins 0.000 description 4
102100023419 Cystic fibrosis transmembrane conductance regulator Human genes 0.000 description 4
102100021704 Cytochrome P450 2D6 Human genes 0.000 description 4
101710197960 D-aminoacyl-tRNA deacylase Proteins 0.000 description 4
101710109959 D-aminoacyl-tRNA deacylase 1 Proteins 0.000 description 4
102100021147 DNA mismatch repair protein Msh6 Human genes 0.000 description 4
208000000398 DiGeorge Syndrome Diseases 0.000 description 4
102100023227 E3 SUMO-protein ligase EGR2 Human genes 0.000 description 4
108010051748 Early Growth Response Protein 2 Proteins 0.000 description 4
102100031780 Endonuclease Human genes 0.000 description 4
102100031690 Erythroid transcription factor Human genes 0.000 description 4
102100031752 Fibrinogen alpha chain Human genes 0.000 description 4
101710137044 Fibrinogen alpha chain Proteins 0.000 description 4
102100028065 Fibulin-5 Human genes 0.000 description 4
102100030708 GTPase KRas Human genes 0.000 description 4
102100027813 Gamma-crystallin C Human genes 0.000 description 4
102100027812 Gamma-crystallin D Human genes 0.000 description 4
101710143708 Ganglioside-induced differentiation-associated protein 1 Proteins 0.000 description 4
102100034047 Heat shock factor protein 4 Human genes 0.000 description 4
208000006411 Hereditary Sensory and Motor Neuropathy Diseases 0.000 description 4
102100030309 Homeobox protein Hox-A1 Human genes 0.000 description 4
102100028707 Homeobox protein MSX-1 Human genes 0.000 description 4
102100040615 Homeobox protein MSX-2 Human genes 0.000 description 4
102100027875 Homeobox protein Nkx-2.5 Human genes 0.000 description 4
101000769028 Homo sapiens ADP-ribosylation factor-like protein 6 Proteins 0.000 description 4
101000678026 Homo sapiens Alpha-1-antichymotrypsin Proteins 0.000 description 4
101000823051 Homo sapiens Amyloid-beta precursor protein Proteins 0.000 description 4
101000734668 Homo sapiens Astrocytic phosphoprotein PEA-15 Proteins 0.000 description 4
101000919250 Homo sapiens Beta-crystallin B2 Proteins 0.000 description 4
101000762405 Homo sapiens Borealin Proteins 0.000 description 4
101000868273 Homo sapiens CD44 antigen Proteins 0.000 description 4
101000907783 Homo sapiens Cystic fibrosis transmembrane conductance regulator Proteins 0.000 description 4
101000896586 Homo sapiens Cytochrome P450 2D6 Proteins 0.000 description 4
101001134036 Homo sapiens DNA mismatch repair protein Msh2 Proteins 0.000 description 4
101000883444 Homo sapiens Desmoplakin Proteins 0.000 description 4
101001060252 Homo sapiens Fibulin-5 Proteins 0.000 description 4
101001023356 Homo sapiens Forkhead box protein L2 Proteins 0.000 description 4
101000859938 Homo sapiens Gamma-crystallin C Proteins 0.000 description 4
101000859943 Homo sapiens Gamma-crystallin D Proteins 0.000 description 4
101000894966 Homo sapiens Gap junction alpha-1 protein Proteins 0.000 description 4
101000710225 Homo sapiens H(+)/Cl(-) exchange transporter 5 Proteins 0.000 description 4
101001016879 Homo sapiens Heat shock factor protein 4 Proteins 0.000 description 4
101001083156 Homo sapiens Homeobox protein Hox-A1 Proteins 0.000 description 4
101000967222 Homo sapiens Homeobox protein MSX-2 Proteins 0.000 description 4
101000632178 Homo sapiens Homeobox protein Nkx-2.1 Proteins 0.000 description 4
101000632197 Homo sapiens Homeobox protein Nkx-2.5 Proteins 0.000 description 4
101000945351 Homo sapiens Killer cell immunoglobulin-like receptor 3DL1 Proteins 0.000 description 4
101000763951 Homo sapiens Mitochondrial import inner membrane translocase subunit Tim8 A Proteins 0.000 description 4
101000629029 Homo sapiens Myosin regulatory light chain 2, ventricular/cardiac muscle isoform Proteins 0.000 description 4
101001030232 Homo sapiens Myosin-9 Proteins 0.000 description 4
101000996111 Homo sapiens Neuroligin-4, X-linked Proteins 0.000 description 4
101000601647 Homo sapiens Paired box protein Pax-6 Proteins 0.000 description 4
101000801684 Homo sapiens Phospholipid-transporting ATPase ABCA1 Proteins 0.000 description 4
101001081555 Homo sapiens Plasma protease C1 inhibitor Proteins 0.000 description 4
101001097889 Homo sapiens Platelet-activating factor acetylhydrolase Proteins 0.000 description 4
101001003584 Homo sapiens Prelamin-A/C Proteins 0.000 description 4
101000617546 Homo sapiens Presenilin-2 Proteins 0.000 description 4
101000836337 Homo sapiens Probable helicase senataxin Proteins 0.000 description 4
101000602149 Homo sapiens Programmed cell death protein 10 Proteins 0.000 description 4
101001038300 Homo sapiens Protein ERGIC-53 Proteins 0.000 description 4
101000919288 Homo sapiens Protein disulfide isomerase CRELD1 Proteins 0.000 description 4
101000994437 Homo sapiens Protein jagged-1 Proteins 0.000 description 4
101000579425 Homo sapiens Proto-oncogene tyrosine-protein kinase receptor Ret Proteins 0.000 description 4
101000896576 Homo sapiens Putative cytochrome P450 2D7 Proteins 0.000 description 4
101001012157 Homo sapiens Receptor tyrosine-protein kinase erbB-2 Proteins 0.000 description 4
101000857682 Homo sapiens Runt-related transcription factor 2 Proteins 0.000 description 4
101000727802 Homo sapiens Sulfate transporter Proteins 0.000 description 4
101000652482 Homo sapiens TBC1 domain family member 8 Proteins 0.000 description 4
101000662686 Homo sapiens Torsin-1A Proteins 0.000 description 4
101000772194 Homo sapiens Transthyretin Proteins 0.000 description 4
101000611183 Homo sapiens Tumor necrosis factor Proteins 0.000 description 4
101000864342 Homo sapiens Tyrosine-protein kinase BTK Proteins 0.000 description 4
101001103033 Homo sapiens Tyrosine-protein kinase transmembrane receptor ROR2 Proteins 0.000 description 4
101000666127 Homo sapiens Whirlin Proteins 0.000 description 4
102000003839 Human Proteins Human genes 0.000 description 4
108090000144 Human Proteins Proteins 0.000 description 4
102100026214 Indian hedgehog protein Human genes 0.000 description 4
102100023350 Integral membrane protein 2B Human genes 0.000 description 4
102100033627 Killer cell immunoglobulin-like receptor 3DL1 Human genes 0.000 description 4
102100022119 Lipoprotein lipase Human genes 0.000 description 4
201000001597 Lynch syndrome 1 Diseases 0.000 description 4
108700011259 MicroRNAs Proteins 0.000 description 4
108010026664 MutL Protein Homolog 1 Proteins 0.000 description 4
102100026925 Myosin regulatory light chain 2, ventricular/cardiac muscle isoform Human genes 0.000 description 4
102100038319 Myosin-6 Human genes 0.000 description 4
102100038938 Myosin-9 Human genes 0.000 description 4
101710095135 NAD(P)H dehydrogenase [quinone] 1 Proteins 0.000 description 4
102100023064 Nectin-1 Human genes 0.000 description 4
102100023057 Neurofilament light polypeptide Human genes 0.000 description 4
102100034441 Neuroligin-4, X-linked Human genes 0.000 description 4
102100027341 Neutral and basic amino acid transport protein rBAT Human genes 0.000 description 4
108010032788 PAX6 Transcription Factor Proteins 0.000 description 4
108090000882 Peptidyl-Dipeptidase A Proteins 0.000 description 4
108090000709 Phakinin Proteins 0.000 description 4
102100037444 Potassium voltage-gated channel subfamily KQT member 1 Human genes 0.000 description 4
108010071690 Prealbumin Proteins 0.000 description 4
102100022036 Presenilin-2 Human genes 0.000 description 4
102100027178 Probable helicase senataxin Human genes 0.000 description 4
102100037594 Programmed cell death protein 10 Human genes 0.000 description 4
102100040252 Protein ERGIC-53 Human genes 0.000 description 4
102100029371 Protein disulfide isomerase CRELD1 Human genes 0.000 description 4
102100028286 Proto-oncogene tyrosine-protein kinase receptor Ret Human genes 0.000 description 4
102100030086 Receptor tyrosine-protein kinase erbB-2 Human genes 0.000 description 4
102100030814 Regulator of G-protein signaling 9 Human genes 0.000 description 4
108091006505 SLC26A2 Proteins 0.000 description 4
102100026557 Short-wave-sensitive opsin 1 Human genes 0.000 description 4
102100037454 Torsin-1A Human genes 0.000 description 4
102100036471 Tropomyosin beta chain Human genes 0.000 description 4
102100040247 Tumor necrosis factor Human genes 0.000 description 4
102100029823 Tyrosine-protein kinase BTK Human genes 0.000 description 4
208000007097 Urinary Bladder Neoplasms Diseases 0.000 description 4
102100031083 Uteroglobin Human genes 0.000 description 4
102100037108 Vasopressin V2 receptor Human genes 0.000 description 4
102100039066 Very low-density lipoprotein receptor Human genes 0.000 description 4
OIPILFWXSMYKGL-UHFFFAOYSA-N acetylcholine Chemical compound CC(=O)OCC[N+](C)(C)C OIPILFWXSMYKGL-UHFFFAOYSA-N 0.000 description 4
108010080146 androgen receptors Proteins 0.000 description 4
210000004436 artificial bacterial chromosome Anatomy 0.000 description 4
210000001106 artificial yeast chromosome Anatomy 0.000 description 4
201000006174 autosomal recessive nonsyndromic deafness 7 Diseases 0.000 description 4
208000032445 autosomal recessive nonsyndromic hearing loss 7 Diseases 0.000 description 4
102100021298 b(0,+)-type amino acid transporter 1 Human genes 0.000 description 4
239000002585 base Substances 0.000 description 4
201000011466 bradyopsia Diseases 0.000 description 4
201000010251 cutis laxa Diseases 0.000 description 4
230000007547 defect Effects 0.000 description 4
230000002950 deficient Effects 0.000 description 4
238000013461 design Methods 0.000 description 4
201000010064 diabetes insipidus Diseases 0.000 description 4
229940079593 drug Drugs 0.000 description 4
239000003814 drug Substances 0.000 description 4
208000027826 familial dysfibrinogenemia Diseases 0.000 description 4
230000002949 hemolytic effect Effects 0.000 description 4
201000001657 hereditary nonpolyposis colorectal cancer type 2 Diseases 0.000 description 4
201000003535 hypohidrotic ectodermal dysplasia Diseases 0.000 description 4
230000000366 juvenile effect Effects 0.000 description 4
239000002679 microRNA Substances 0.000 description 4
208000033808 peripheral neuropathy Diseases 0.000 description 4
102000005962 receptors Human genes 0.000 description 4
108020003175 receptors Proteins 0.000 description 4
230000008439 repair process Effects 0.000 description 4
238000011160 research Methods 0.000 description 4
230000004044 response Effects 0.000 description 4
210000001519 tissue Anatomy 0.000 description 4
OHOTVSOGTVKXEL-UHFFFAOYSA-K trisodium;2-[bis(carboxylatomethyl)amino]propanoate Chemical compound [Na+].[Na+].[Na+].[O-]C(=O)C(C)N(CC([O-])=O)CC([O-])=O OHOTVSOGTVKXEL-UHFFFAOYSA-K 0.000 description 4
201000005112 urinary bladder cancer Diseases 0.000 description 4
102100036506 11-beta-hydroxysteroid dehydrogenase 1 Human genes 0.000 description 3
102100030310 5,6-dihydroxyindole-2-carboxylic acid oxidase Human genes 0.000 description 3
102100024378 AF4/FMR2 family member 2 Human genes 0.000 description 3
208000030507 AIDS Diseases 0.000 description 3
208000036443 AIPL1-related retinopathy Diseases 0.000 description 3
102000000872 ATM Human genes 0.000 description 3
102100033350 ATP-dependent translocase ABCB1 Human genes 0.000 description 3
101150020330 ATRX gene Proteins 0.000 description 3
208000003200 Adenoma Diseases 0.000 description 3
208000024985 Alport syndrome Diseases 0.000 description 3
208000005875 Alternating hemiplegia of childhood Diseases 0.000 description 3
102100039088 Amelogenin, X isoform Human genes 0.000 description 3
101710185050 Angiotensin-converting enzyme Proteins 0.000 description 3
208000032467 Aplastic anaemia Diseases 0.000 description 3
102100033715 Apolipoprotein A-I Human genes 0.000 description 3
101100243447 Arabidopsis thaliana PER53 gene Proteins 0.000 description 3
206010058298 Argininosuccinate synthetase deficiency Diseases 0.000 description 3
102100029361 Aromatase Human genes 0.000 description 3
102100034691 Astrocytic phosphoprotein PEA-15 Human genes 0.000 description 3
206010063836 Atrioventricular septal defect Diseases 0.000 description 3
201000005943 Barth syndrome Diseases 0.000 description 3
206010062804 Basal cell naevus syndrome Diseases 0.000 description 3
102100036597 Basement membrane-specific heparan sulfate proteoglycan core protein Human genes 0.000 description 3
102100023006 Basic leucine zipper transcriptional factor ATF-like 2 Human genes 0.000 description 3
102100022440 Battenin Human genes 0.000 description 3
UHOVQNZJYSORNB-UHFFFAOYSA-N Benzene Chemical compound C1=CC=CC=C1 UHOVQNZJYSORNB-UHFFFAOYSA-N 0.000 description 3
208000001593 Bernard-Soulier syndrome Diseases 0.000 description 3
208000006304 Bethlem myopathy Diseases 0.000 description 3
102100035631 Bloom syndrome protein Human genes 0.000 description 3
102100025423 Bone morphogenetic protein receptor type-1A Human genes 0.000 description 3
108010040163 CREB-Binding Protein Proteins 0.000 description 3
102100021975 CREB-binding protein Human genes 0.000 description 3
102100026678 Carboxypeptidase N catalytic chain Human genes 0.000 description 3
102100021956 Caytaxin Human genes 0.000 description 3
101100409047 Chlorobaculum tepidum (strain ATCC 49652 / DSM 12025 / NBRC 103806 / TLS) ppk2 gene Proteins 0.000 description 3
208000005243 Chondrosarcoma Diseases 0.000 description 3
201000011297 Citrullinemia Diseases 0.000 description 3
102100033775 Collagen alpha-5(IV) chain Human genes 0.000 description 3
201000003101 Coloboma Diseases 0.000 description 3
102100033772 Complement C4-A Human genes 0.000 description 3
208000008448 Congenital adrenal hyperplasia Diseases 0.000 description 3
208000025103 Congenital isolated hyperinsulinism Diseases 0.000 description 3
208000028702 Congenital thrombocyte disease Diseases 0.000 description 3
102100027587 Copper-transporting ATPase 1 Human genes 0.000 description 3
208000001727 Craniofrontonasal dysplasia Diseases 0.000 description 3
102100029142 Cyclic nucleotide-gated cation channel alpha-3 Human genes 0.000 description 3
102100033269 Cyclin-dependent kinase inhibitor 1C Human genes 0.000 description 3
206010011777 Cystinosis Diseases 0.000 description 3
206010011778 Cystinuria Diseases 0.000 description 3
102100036194 Cytochrome P450 2A6 Human genes 0.000 description 3
102100026234 Cytokine receptor common subunit gamma Human genes 0.000 description 3
102100038493 Cytokine receptor-like factor 1 Human genes 0.000 description 3
102100029813 D(1B) dopamine receptor Human genes 0.000 description 3
230000033616 DNA repair Effects 0.000 description 3
230000004568 DNA-binding Effects 0.000 description 3
102100022258 Disks large homolog 5 Human genes 0.000 description 3
102100039059 Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase Human genes 0.000 description 3
102100020746 Dolichol-phosphate mannosyltransferase subunit 1 Human genes 0.000 description 3
102100033156 Dopamine beta-hydroxylase Human genes 0.000 description 3
206010013611 Double outlet right ventricle Diseases 0.000 description 3
102100029791 Double-stranded RNA-specific adenosine deaminase Human genes 0.000 description 3
102100021242 Dymeclin Human genes 0.000 description 3
102100024108 Dystrophin Human genes 0.000 description 3
102100031814 EGF-containing fibulin-like extracellular matrix protein 1 Human genes 0.000 description 3
102100037642 Elongation factor G, mitochondrial Human genes 0.000 description 3
102100033946 Ephrin-B1 Human genes 0.000 description 3
108010014384 Erythrocyte Anion Exchange Protein 1 Proteins 0.000 description 3
LFQSCWFLJHTTHZ-UHFFFAOYSA-N Ethanol Chemical compound CCO LFQSCWFLJHTTHZ-UHFFFAOYSA-N 0.000 description 3
102100034553 Fanconi anemia group J protein Human genes 0.000 description 3
102100027909 Folliculin Human genes 0.000 description 3
102100037042 Forkhead box protein E1 Human genes 0.000 description 3
201000011240 Frontotemporal dementia Diseases 0.000 description 3
102100024165 G1/S-specific cyclin-D1 Human genes 0.000 description 3
102100032170 GTP-binding protein SAR1b Human genes 0.000 description 3
208000036357 GUCY2D-related recessive retinopathy Diseases 0.000 description 3
102100030526 Gap junction alpha-3 protein Human genes 0.000 description 3
102100025283 Gap junction alpha-8 protein Human genes 0.000 description 3
102100037260 Gap junction beta-1 protein Human genes 0.000 description 3
102100035716 Glycophorin-A Human genes 0.000 description 3
102000003886 Glycoproteins Human genes 0.000 description 3
108090000288 Glycoproteins Proteins 0.000 description 3
208000031995 Gorlin syndrome Diseases 0.000 description 3
102100034227 Grainyhead-like protein 2 homolog Human genes 0.000 description 3
102100032610 Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas Human genes 0.000 description 3
102100037931 Harmonin Human genes 0.000 description 3
102100039165 Heat shock protein beta-1 Human genes 0.000 description 3
102100029239 Histone-lysine N-methyltransferase, H3 lysine-36 specific Human genes 0.000 description 3
101000773083 Homo sapiens 5,6-dihydroxyindole-2-carboxylic acid oxidase Proteins 0.000 description 3
101000833172 Homo sapiens AF4/FMR2 family member 2 Proteins 0.000 description 3
101000834898 Homo sapiens Alpha-synuclein Proteins 0.000 description 3
101000733802 Homo sapiens Apolipoprotein A-I Proteins 0.000 description 3
101000961040 Homo sapiens Atrial natriuretic peptide receptor 2 Proteins 0.000 description 3
101000903615 Homo sapiens Basic leucine zipper transcriptional factor ATF-like 2 Proteins 0.000 description 3
101000901683 Homo sapiens Battenin Proteins 0.000 description 3
101000934638 Homo sapiens Bone morphogenetic protein receptor type-1A Proteins 0.000 description 3
101000710884 Homo sapiens Complement C4-A Proteins 0.000 description 3
101000944365 Homo sapiens Cyclin-dependent kinase inhibitor 1C Proteins 0.000 description 3
101001055227 Homo sapiens Cytokine receptor common subunit gamma Proteins 0.000 description 3
101000865210 Homo sapiens D(1B) dopamine receptor Proteins 0.000 description 3
101000804964 Homo sapiens DNA polymerase subunit gamma-1 Proteins 0.000 description 3
101000958975 Homo sapiens Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase Proteins 0.000 description 3
101000932202 Homo sapiens Dolichol-phosphate mannosyltransferase subunit 1 Proteins 0.000 description 3
101000817629 Homo sapiens Dymeclin Proteins 0.000 description 3
101000866368 Homo sapiens Dynein axonemal heavy chain 5 Proteins 0.000 description 3
101001065272 Homo sapiens EGF-containing fibulin-like extracellular matrix protein 1 Proteins 0.000 description 3
101001066268 Homo sapiens Erythroid transcription factor Proteins 0.000 description 3
101000848171 Homo sapiens Fanconi anemia group J protein Proteins 0.000 description 3
101001060703 Homo sapiens Folliculin Proteins 0.000 description 3
101001029304 Homo sapiens Forkhead box protein E1 Proteins 0.000 description 3
101100061841 Homo sapiens GJB3 gene Proteins 0.000 description 3
101000637633 Homo sapiens GTP-binding protein SAR1b Proteins 0.000 description 3
101001069929 Homo sapiens Grainyhead-like protein 2 homolog Proteins 0.000 description 3
101001014590 Homo sapiens Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas Proteins 0.000 description 3
101001014594 Homo sapiens Guanine nucleotide-binding protein G(s) subunit alpha isoforms short Proteins 0.000 description 3
101000805947 Homo sapiens Harmonin Proteins 0.000 description 3
101000634050 Homo sapiens Histone-lysine N-methyltransferase, H3 lysine-36 specific Proteins 0.000 description 3
101000985653 Homo sapiens Homeobox protein MSX-1 Proteins 0.000 description 3
101000677891 Homo sapiens Iron-sulfur clusters transporter ABCB7, mitochondrial Proteins 0.000 description 3
101000573637 Homo sapiens LRP chaperone MESD Proteins 0.000 description 3
101000966257 Homo sapiens Limb region 1 protein homolog Proteins 0.000 description 3
101001018717 Homo sapiens Mitofusin-2 Proteins 0.000 description 3
101000576323 Homo sapiens Motor neuron and pancreas homeobox protein 1 Proteins 0.000 description 3
101000588964 Homo sapiens Myosin-14 Proteins 0.000 description 3
101000635935 Homo sapiens Myosin-IIIa Proteins 0.000 description 3
101000973778 Homo sapiens NAD(P)H dehydrogenase [quinone] 1 Proteins 0.000 description 3
101001014610 Homo sapiens Neuroendocrine secretory protein 55 Proteins 0.000 description 3
101000577224 Homo sapiens Neuropeptide S receptor Proteins 0.000 description 3
101001134172 Homo sapiens Otoancorin Proteins 0.000 description 3
101001134169 Homo sapiens Otoferlin Proteins 0.000 description 3
101001021103 Homo sapiens Oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial Proteins 0.000 description 3
101000595929 Homo sapiens POLG alternative reading frame Proteins 0.000 description 3
101000613490 Homo sapiens Paired box protein Pax-3 Proteins 0.000 description 3
101000574223 Homo sapiens Palmitoyl-protein thioesterase 1 Proteins 0.000 description 3
101000610652 Homo sapiens Peripherin-2 Proteins 0.000 description 3
101001082860 Homo sapiens Peroxisomal membrane protein 2 Proteins 0.000 description 3
101001099372 Homo sapiens Peroxisome biogenesis factor 1 Proteins 0.000 description 3
101000955481 Homo sapiens Phosphatidylcholine translocator ABCB4 Proteins 0.000 description 3
101000983161 Homo sapiens Phospholipase A2, membrane associated Proteins 0.000 description 3
101001047090 Homo sapiens Potassium voltage-gated channel subfamily H member 2 Proteins 0.000 description 3
101000797903 Homo sapiens Protein ALEX Proteins 0.000 description 3
101000780643 Homo sapiens Protein argonaute-2 Proteins 0.000 description 3
101000928791 Homo sapiens Protein diaphanous homolog 1 Proteins 0.000 description 3
101001072259 Homo sapiens Protocadherin-15 Proteins 0.000 description 3
101001079096 Homo sapiens Regulator of G-protein signaling 9-binding protein Proteins 0.000 description 3
101000785063 Homo sapiens Serine-protein kinase ATM Proteins 0.000 description 3
101001094647 Homo sapiens Serum paraoxonase/arylesterase 1 Proteins 0.000 description 3
101000753197 Homo sapiens Sodium/potassium-transporting ATPase subunit alpha-2 Proteins 0.000 description 3
101000753178 Homo sapiens Sodium/potassium-transporting ATPase subunit alpha-3 Proteins 0.000 description 3
101000685678 Homo sapiens Solute carrier family 22 member 18 Proteins 0.000 description 3
101000616465 Homo sapiens Sonic hedgehog protein Proteins 0.000 description 3
101000829425 Homo sapiens Steroid receptor RNA activator 1 Proteins 0.000 description 3
101000713600 Homo sapiens T-box transcription factor TBX22 Proteins 0.000 description 3
101000597193 Homo sapiens Telethonin Proteins 0.000 description 3
101001074042 Homo sapiens Transcriptional activator GLI3 Proteins 0.000 description 3
101000904868 Homo sapiens Transcriptional regulator ATRX Proteins 0.000 description 3
101000764625 Homo sapiens Transmembrane inner ear expressed protein Proteins 0.000 description 3
101000851892 Homo sapiens Tropomyosin beta chain Proteins 0.000 description 3
101000671676 Homo sapiens U3 small nucleolar RNA-associated protein 4 homolog Proteins 0.000 description 3
101000777301 Homo sapiens Uteroglobin Proteins 0.000 description 3
101000935117 Homo sapiens Voltage-dependent P/Q-type calcium channel subunit alpha-1A Proteins 0.000 description 3
206010020983 Hypogammaglobulinaemia Diseases 0.000 description 3
102000003816 Interleukin-13 Human genes 0.000 description 3
108090000176 Interleukin-13 Proteins 0.000 description 3
102100021504 Iron-sulfur clusters transporter ABCB7, mitochondrial Human genes 0.000 description 3
108700042464 KRIT1 Proteins 0.000 description 3
102100034872 Kallikrein-4 Human genes 0.000 description 3
102100038408 Kinesin-like protein KIF22 Human genes 0.000 description 3
102100040547 Limb region 1 protein homolog Human genes 0.000 description 3
KDXKERNSBIXSRK-UHFFFAOYSA-N Lysine Natural products NCCCCC(N)C(O)=O KDXKERNSBIXSRK-UHFFFAOYSA-N 0.000 description 3
102100026553 Mannose-binding protein C Human genes 0.000 description 3
102100037480 Mismatch repair endonuclease PMS2 Human genes 0.000 description 3
102100033703 Mitofusin-2 Human genes 0.000 description 3
102100027871 Monocarboxylate transporter 8 Human genes 0.000 description 3
102100025725 Mothers against decapentaplegic homolog 4 Human genes 0.000 description 3
101710143112 Mothers against decapentaplegic homolog 4 Proteins 0.000 description 3
102100025170 Motor neuron and pancreas homeobox protein 1 Human genes 0.000 description 3
208000008770 Multiple Hamartoma Syndrome Diseases 0.000 description 3
102100032972 Myosin-14 Human genes 0.000 description 3
102100030743 Myosin-IIIa Human genes 0.000 description 3
206010028980 Neoplasm Diseases 0.000 description 3
108010012255 Neural Cell Adhesion Molecule L1 Proteins 0.000 description 3
102100025258 Neuropeptide S receptor Human genes 0.000 description 3
108700002045 Nod2 Signaling Adaptor Proteins 0.000 description 3
101150083031 Nod2 gene Proteins 0.000 description 3
108010029756 Notch3 Receptor Proteins 0.000 description 3
102100034199 Otoancorin Human genes 0.000 description 3
102100036201 Oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial Human genes 0.000 description 3
102100026365 PHD finger protein 6 Human genes 0.000 description 3
102100035196 POLG alternative reading frame Human genes 0.000 description 3
108010011536 PTEN Phosphohydrolase Proteins 0.000 description 3
102100040891 Paired box protein Pax-3 Human genes 0.000 description 3
102100025824 Palmitoyl-protein thioesterase 1 Human genes 0.000 description 3
102100040375 Peripherin-2 Human genes 0.000 description 3
102100036598 Peroxisomal targeting signal 1 receptor Human genes 0.000 description 3
102100038881 Peroxisome biogenesis factor 1 Human genes 0.000 description 3
102100038825 Peroxisome proliferator-activated receptor gamma Human genes 0.000 description 3
102100039032 Phosphatidylcholine translocator ABCB4 Human genes 0.000 description 3
102100032543 Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN Human genes 0.000 description 3
102100026831 Phospholipase A2, membrane associated Human genes 0.000 description 3
102100022807 Potassium voltage-gated channel subfamily H member 2 Human genes 0.000 description 3
102100026531 Prelamin-A/C Human genes 0.000 description 3
102100035276 Prestin Human genes 0.000 description 3
102100034479 Protein CLN8 Human genes 0.000 description 3
102100036490 Protein diaphanous homolog 1 Human genes 0.000 description 3
102100036382 Protocadherin-15 Human genes 0.000 description 3
102100024735 Resistin Human genes 0.000 description 3
102100030681 SH3 and multiple ankyrin repeat domains protein 3 Human genes 0.000 description 3
108091006633 SLC12A6 Proteins 0.000 description 3
108091006318 SLC4A1 Proteins 0.000 description 3
102100021955 Sodium/potassium-transporting ATPase subunit alpha-2 Human genes 0.000 description 3
102100021952 Sodium/potassium-transporting ATPase subunit alpha-3 Human genes 0.000 description 3
102100034245 Solute carrier family 12 member 6 Human genes 0.000 description 3
102100023102 Solute carrier family 22 member 18 Human genes 0.000 description 3
102100036924 Solute carrier family 22 member 5 Human genes 0.000 description 3
102100021796 Sonic hedgehog protein Human genes 0.000 description 3
102100029856 Steroidogenic factor 1 Human genes 0.000 description 3
102100036325 Sterol 26-hydroxylase, mitochondrial Human genes 0.000 description 3
102100038836 Superoxide dismutase [Cu-Zn] Human genes 0.000 description 3
101150080074 TP53 gene Proteins 0.000 description 3
102100035155 Telethonin Human genes 0.000 description 3
102100032938 Telomerase reverse transcriptase Human genes 0.000 description 3
102100029773 Tether containing UBX domain for GLUT4 Human genes 0.000 description 3
102100035559 Transcriptional activator GLI3 Human genes 0.000 description 3
101710113296 Transcriptional regulator ATRX Proteins 0.000 description 3
102100026225 Transmembrane inner ear expressed protein Human genes 0.000 description 3
102100027212 Tumor-associated calcium signal transducer 2 Human genes 0.000 description 3
102100039616 Tyrosine-protein kinase transmembrane receptor ROR2 Human genes 0.000 description 3
102100040072 U3 small nucleolar RNA-associated protein 4 homolog Human genes 0.000 description 3
102100040076 Urea transporter 1 Human genes 0.000 description 3
101710177612 Very low-density lipoprotein receptor Proteins 0.000 description 3
102100025330 Voltage-dependent P/Q-type calcium channel subunit alpha-1A Human genes 0.000 description 3
208000006269 X-Linked Bulbo-Spinal Atrophy Diseases 0.000 description 3
108700042462 X-linked Nuclear Proteins 0.000 description 3
208000026753 anterior segment dysgenesis Diseases 0.000 description 3
201000009217 atrial heart septal defect 3 Diseases 0.000 description 3
208000008044 atrial septal defect 3 Diseases 0.000 description 3
201000011387 autosomal recessive nonsyndromic deafness 21 Diseases 0.000 description 3
201000011350 autosomal recessive nonsyndromic deafness 37 Diseases 0.000 description 3
208000031514 autosomal recessive nonsyndromic hearing loss 1A Diseases 0.000 description 3
208000032893 autosomal recessive nonsyndromic hearing loss 21 Diseases 0.000 description 3
208000032211 autosomal recessive nonsyndromic hearing loss 37 Diseases 0.000 description 3
150000001720 carbohydrates Chemical class 0.000 description 3
235000014633 carbohydrates Nutrition 0.000 description 3
208000001020 chondrodysplasia punctata Diseases 0.000 description 3
208000029664 classic familial adenomatous polyposis Diseases 0.000 description 3
208000016653 cleft lip/palate Diseases 0.000 description 3
238000010276 construction Methods 0.000 description 3
201000003652 craniofrontonasal syndrome Diseases 0.000 description 3
238000011161 development Methods 0.000 description 3
230000018109 developmental process Effects 0.000 description 3
108010083141 dipeptidyl carboxypeptidase Proteins 0.000 description 3
238000009510 drug design Methods 0.000 description 3
208000009356 dyskeratosis congenita Diseases 0.000 description 3
210000003754 fetus Anatomy 0.000 description 3
238000001415 gene therapy Methods 0.000 description 3
230000002068 genetic effect Effects 0.000 description 3
208000003215 hereditary nephritis Diseases 0.000 description 3
201000010552 hypertrophic cardiomyopathy 1 Diseases 0.000 description 3
201000010513 hypertrophic cardiomyopathy 10 Diseases 0.000 description 3
230000001096 hypoplastic effect Effects 0.000 description 3
238000000338 in vitro Methods 0.000 description 3
239000002502 liposome Substances 0.000 description 3
238000013507 mapping Methods 0.000 description 3
238000000520 microinjection Methods 0.000 description 3
201000011540 mitochondrial DNA depletion syndrome 4a Diseases 0.000 description 3
239000003607 modifier Substances 0.000 description 3
230000002151 myoclonic effect Effects 0.000 description 3
108010049787 myosin VI Proteins 0.000 description 3
230000002988 nephrogenic effect Effects 0.000 description 3
201000005734 nevoid basal cell carcinoma syndrome Diseases 0.000 description 3
239000013641 positive control Substances 0.000 description 3
101150001140 ppk gene Proteins 0.000 description 3
230000002829 reductive effect Effects 0.000 description 3
230000035945 sensitivity Effects 0.000 description 3
210000002966 serum Anatomy 0.000 description 3
238000001262 western blot Methods 0.000 description 3
YBJHBAHKTGYVGT-ZKWXMUAHSA-N (+)-Biotin Chemical compound N1C(=O)N[C@@H]2[C@H](CCCCC(=O)O)SC[C@@H]21 YBJHBAHKTGYVGT-ZKWXMUAHSA-N 0.000 description 2
IAKHMKGGTNLKSZ-INIZCTEOSA-N (S)-colchicine Chemical compound C1([C@@H](NC(C)=O)CC2)=CC(=O)C(OC)=CC=C1C1=C2C=C(OC)C(OC)=C1OC IAKHMKGGTNLKSZ-INIZCTEOSA-N 0.000 description 2
102100035905 1-acylglycerol-3-phosphate O-acyltransferase ABHD5 Human genes 0.000 description 2
208000010543 22q11.2 deletion syndrome Diseases 0.000 description 2
102100031765 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase Human genes 0.000 description 2
201000003553 3-methylglutaconic aciduria Diseases 0.000 description 2
102100033051 40S ribosomal protein S19 Human genes 0.000 description 2
102100024626 5'-AMP-activated protein kinase subunit gamma-2 Human genes 0.000 description 2
102100036321 5-hydroxytryptamine receptor 2A Human genes 0.000 description 2
101710138091 5-hydroxytryptamine receptor 2A Proteins 0.000 description 2
101150092476 ABCA1 gene Proteins 0.000 description 2
108700005241 ATP Binding Cassette Transporter 1 Proteins 0.000 description 2
102100027520 ATP synthase mitochondrial F1 complex assembly factor 2 Human genes 0.000 description 2
102100028161 ATP-binding cassette sub-family C member 2 Human genes 0.000 description 2
102100024642 ATP-binding cassette sub-family C member 9 Human genes 0.000 description 2
101710122998 ATP-sensitive inward rectifier potassium channel 11 Proteins 0.000 description 2
102100021177 ATP-sensitive inward rectifier potassium channel 11 Human genes 0.000 description 2
201000011244 Acrocallosal syndrome Diseases 0.000 description 2
201000010028 Acrocephalosyndactylia Diseases 0.000 description 2
206010000599 Acromegaly Diseases 0.000 description 2
102100039819 Actin, alpha cardiac muscle 1 Human genes 0.000 description 2
102000007469 Actins Human genes 0.000 description 2
108010085238 Actins Proteins 0.000 description 2
102100035886 Adenine DNA glycosylase Human genes 0.000 description 2
102100020775 Adenylosuccinate lyase Human genes 0.000 description 2
108700040193 Adenylosuccinate lyases Proteins 0.000 description 2
101710096099 Adhesion G-protein coupled receptor V1 Proteins 0.000 description 2
102100031786 Adiponectin Human genes 0.000 description 2
208000002004 Afibrinogenemia Diseases 0.000 description 2
BYXHQQCXAJARLQ-ZLUOBGJFSA-N Ala-Ala-Ala Chemical compound C[C@H](N)C(=O)N[C@@H](C)C(=O)N[C@@H](C)C(O)=O BYXHQQCXAJARLQ-ZLUOBGJFSA-N 0.000 description 2
102000009027 Albumins Human genes 0.000 description 2
108010088751 Albumins Proteins 0.000 description 2
208000007848 Alcoholism Diseases 0.000 description 2
208000011403 Alexander disease Diseases 0.000 description 2
102100026611 Alpha-1,2-mannosyltransferase ALG9 Human genes 0.000 description 2
102100025983 Alpha-2C adrenergic receptor Human genes 0.000 description 2
102100032956 Alpha-actinin-3 Human genes 0.000 description 2
102100040743 Alpha-crystallin B chain Human genes 0.000 description 2
102100031663 Alpha-tocopherol transfer protein Human genes 0.000 description 2
201000005932 Alstrom Syndrome Diseases 0.000 description 2
102100032360 Alstrom syndrome protein 1 Human genes 0.000 description 2
102100034452 Alternative prion protein Human genes 0.000 description 2
208000037540 Alveolar soft tissue sarcoma Diseases 0.000 description 2
101710191958 Amino-acid acetyltransferase Proteins 0.000 description 2
101710185938 Amino-acid acetyltransferase, mitochondrial Proteins 0.000 description 2
102100020895 Ammonium transporter Rh type A Human genes 0.000 description 2
102100036438 Amyloid beta precursor protein binding family B member 2 Human genes 0.000 description 2
208000009575 Angelman syndrome Diseases 0.000 description 2
102100031366 Ankyrin-1 Human genes 0.000 description 2
206010059199 Anterior chamber cleavage syndrome Diseases 0.000 description 2
102100030346 Antigen peptide transporter 1 Human genes 0.000 description 2
108050009514 Antigen peptide transporter 1 Proteins 0.000 description 2
102100030942 Apolipoprotein A-II Human genes 0.000 description 2
102100030970 Apolipoprotein C-III Human genes 0.000 description 2
102100029470 Apolipoprotein E Human genes 0.000 description 2
102100024044 Aprataxin Human genes 0.000 description 2
108010036221 Aquaporin 2 Proteins 0.000 description 2
102100034414 Aquaporin-2 Human genes 0.000 description 2
101000797612 Arabidopsis thaliana Protein MEI2-like 3 Proteins 0.000 description 2
206010003225 Arteriospasm coronary Diseases 0.000 description 2
208000008037 Arthrogryposis Diseases 0.000 description 2
102100024081 Aryl-hydrocarbon-interacting protein-like 1 Human genes 0.000 description 2
102100023943 Arylsulfatase L Human genes 0.000 description 2
208000036640 Asperger disease Diseases 0.000 description 2
201000006062 Asperger syndrome Diseases 0.000 description 2
208000001827 Ataxia with vitamin E deficiency Diseases 0.000 description 2
206010003658 Atrial Fibrillation Diseases 0.000 description 2
102100039341 Atrial natriuretic peptide receptor 2 Human genes 0.000 description 2
102100036465 Autoimmune regulator Human genes 0.000 description 2
208000035666 Autosomal dominant Charcot-Marie-Tooth disease type 2E Diseases 0.000 description 2
102100021630 B-cell CLL/lymphoma 7 protein family member A Human genes 0.000 description 2
208000034076 BOR syndrome Diseases 0.000 description 2
201000007815 Bannayan-Riley-Ruvalcaba syndrome Diseases 0.000 description 2
102100021295 Bardet-Biedl syndrome 1 protein Human genes 0.000 description 2
208000004828 Bardet-Biedl syndrome 3 Diseases 0.000 description 2
201000009177 Bardet-Biedl syndrome 4 Diseases 0.000 description 2
102100027884 Bardet-Biedl syndrome 4 protein Human genes 0.000 description 2
201000009176 Bardet-Biedl syndrome 5 Diseases 0.000 description 2
208000003592 Bardet-Biedl syndrome 8 Diseases 0.000 description 2
208000037663 Best vitelliform macular dystrophy Diseases 0.000 description 2
102100040794 Beta-1 adrenergic receptor Human genes 0.000 description 2
102100026349 Beta-1,4-galactosyltransferase 1 Human genes 0.000 description 2
102100039705 Beta-2 adrenergic receptor Human genes 0.000 description 2
102100030802 Beta-2-glycoprotein 1 Human genes 0.000 description 2
102100029334 Beta-crystallin A3 Human genes 0.000 description 2
102100024265 Beta-ureidopropionase Human genes 0.000 description 2
201000007795 Bietti crystalline corneoretinal dystrophy Diseases 0.000 description 2
208000008319 Bietti crystalline dystrophy Diseases 0.000 description 2
206010005155 Blepharophimosis Diseases 0.000 description 2
208000033931 Blepharophimosis-ptosis-epicanthus inversus syndrome Diseases 0.000 description 2
208000009278 Blue cone monochromatism Diseases 0.000 description 2
208000006146 Borjeson-Forssman-Lehmann syndrome Diseases 0.000 description 2
101000964894 Bos taurus 14-3-3 protein zeta/delta Proteins 0.000 description 2
102000004219 Brain-derived neurotrophic factor Human genes 0.000 description 2
108090000715 Brain-derived neurotrophic factor Proteins 0.000 description 2
102100026413 Branched-chain-amino-acid aminotransferase, mitochondrial Human genes 0.000 description 2
101150008921 Brca2 gene Proteins 0.000 description 2
102100021992 CD209 antigen Human genes 0.000 description 2
102100022002 CD59 glycoprotein Human genes 0.000 description 2
102100025805 Cadherin-1 Human genes 0.000 description 2
102100022509 Cadherin-23 Human genes 0.000 description 2
208000000380 Cafe-au-Lait Spots Diseases 0.000 description 2
208000004434 Calcinosis Diseases 0.000 description 2
206010007559 Cardiac failure congestive Diseases 0.000 description 2
201000005947 Carney Complex Diseases 0.000 description 2
102100024853 Carnitine O-palmitoyltransferase 2, mitochondrial Human genes 0.000 description 2
201000002929 Carnitine palmitoyltransferase II deficiency Diseases 0.000 description 2
102100026549 Caspase-10 Human genes 0.000 description 2
102100026548 Caspase-8 Human genes 0.000 description 2
206010007747 Cataract congenital Diseases 0.000 description 2
208000015374 Central core disease Diseases 0.000 description 2
206010008025 Cerebellar ataxia Diseases 0.000 description 2
208000005145 Cerebral amyloid angiopathy Diseases 0.000 description 2
102100035197 Cerebral cavernous malformations 2 protein Human genes 0.000 description 2
102100034505 Ceroid-lipofuscinosis neuronal protein 5 Human genes 0.000 description 2
108091005944 Cerulean Proteins 0.000 description 2
201000008990 Charcot-Marie-Tooth disease type 2A1 Diseases 0.000 description 2
201000008957 Charcot-Marie-Tooth disease type 2E Diseases 0.000 description 2
201000008888 Charcot-Marie-Tooth disease type 4D Diseases 0.000 description 2
102100040428 Chitobiosyldiphosphodolichol beta-mannosyltransferase Human genes 0.000 description 2
102100037328 Chitotriosidase-1 Human genes 0.000 description 2
102100030099 Chloride anion exchanger Human genes 0.000 description 2
102100023459 Chloride channel protein ClC-Kb Human genes 0.000 description 2
102100032404 Cholinesterase Human genes 0.000 description 2
206010008723 Chondrodystrophy Diseases 0.000 description 2
208000025678 Ciliary Motility disease Diseases 0.000 description 2
208000019888 Circadian rhythm sleep disease Diseases 0.000 description 2
208000025809 Citrullinemia type II Diseases 0.000 description 2
102100039537 Claudin-14 Human genes 0.000 description 2
208000010200 Cockayne syndrome Diseases 0.000 description 2
102100033601 Collagen alpha-1(I) chain Human genes 0.000 description 2
102100024335 Collagen alpha-1(VII) chain Human genes 0.000 description 2
102100033885 Collagen alpha-2(XI) chain Human genes 0.000 description 2
206010010099 Combined immunodeficiency Diseases 0.000 description 2
108700009273 Complement Component 6 Deficiency Proteins 0.000 description 2
108700037244 Complement Component 7 Deficiency Proteins 0.000 description 2
206010062759 Congenital dyskeratosis Diseases 0.000 description 2
108700043439 Cortisone reductase deficiency Proteins 0.000 description 2
206010066946 Craniofacial dysostosis Diseases 0.000 description 2
102000004420 Creatine Kinase Human genes 0.000 description 2
108010042126 Creatine kinase Proteins 0.000 description 2
208000020406 Creutzfeldt Jacob disease Diseases 0.000 description 2
208000003407 Creutzfeldt-Jakob Syndrome Diseases 0.000 description 2
208000010859 Creutzfeldt-Jakob disease Diseases 0.000 description 2
208000001819 Crigler-Najjar Syndrome Diseases 0.000 description 2
208000011231 Crohn disease Diseases 0.000 description 2
201000006526 Crouzon syndrome Diseases 0.000 description 2
102100024300 Cryptic protein Human genes 0.000 description 2
206010011498 Cryptorchism Diseases 0.000 description 2
102100029140 Cyclic nucleotide-gated cation channel beta-3 Human genes 0.000 description 2
108010058546 Cyclin D1 Proteins 0.000 description 2
102100031620 Cysteine and glycine-rich protein 3 Human genes 0.000 description 2
108010079245 Cystic Fibrosis Transmembrane Conductance Regulator Proteins 0.000 description 2
102000012605 Cystic Fibrosis Transmembrane Conductance Regulator Human genes 0.000 description 2
102100025620 Cytochrome b-245 light chain Human genes 0.000 description 2
102100028717 Cytosolic 5'-nucleotidase 3A Human genes 0.000 description 2
102100031866 DNA excision repair protein ERCC-5 Human genes 0.000 description 2
102100031868 DNA excision repair protein ERCC-8 Human genes 0.000 description 2
102100029995 DNA ligase 1 Human genes 0.000 description 2
102100028849 DNA mismatch repair protein Mlh3 Human genes 0.000 description 2
101710099946 DNA mismatch repair protein Msh6 Proteins 0.000 description 2
102100022928 DNA repair protein RAD51 homolog 1 Human genes 0.000 description 2
102100033587 DNA topoisomerase 2-alpha Human genes 0.000 description 2
102100020986 DNA-binding protein RFX5 Human genes 0.000 description 2
208000002506 Darier Disease Diseases 0.000 description 2
102100035890 Delta(24)-sterol reductase Human genes 0.000 description 2
102100021790 Delta-sarcoglycan Human genes 0.000 description 2
208000024940 Dent disease Diseases 0.000 description 2
101800000026 Dentin sialoprotein Proteins 0.000 description 2
208000009328 Dentinogenesis Imperfecta Diseases 0.000 description 2
102100040679 Dihydroxyacetone phosphate acyltransferase Human genes 0.000 description 2
102100024361 Disintegrin and metalloproteinase domain-containing protein 9 Human genes 0.000 description 2
201000001353 Doyne honeycomb retinal dystrophy Diseases 0.000 description 2
102100033595 Dynein axonemal intermediate chain 1 Human genes 0.000 description 2
206010058314 Dysplasia Diseases 0.000 description 2
102100039246 Elongator complex protein 1 Human genes 0.000 description 2
102100040611 Endothelin receptor type B Human genes 0.000 description 2
101800003838 Epidermal growth factor Proteins 0.000 description 2
102100021793 Epsilon-sarcoglycan Human genes 0.000 description 2
102100031809 Espin Human genes 0.000 description 2
108700024394 Exon Proteins 0.000 description 2
206010015995 Eyelid ptosis Diseases 0.000 description 2
102100038635 FYVE, RhoGEF and PH domain-containing protein 1 Human genes 0.000 description 2
206010016075 Factor I deficiency Diseases 0.000 description 2
241000282326 Felis catus Species 0.000 description 2
102100028313 Fibrinogen beta chain Human genes 0.000 description 2
101710170765 Fibrinogen beta chain Proteins 0.000 description 2
108010010285 Forkhead Box Protein L2 Proteins 0.000 description 2
102100020855 Forkhead box protein E3 Human genes 0.000 description 2
102100036334 Fragile X mental retardation syndrome-related protein 1 Human genes 0.000 description 2
102100036336 Fragile X mental retardation syndrome-related protein 2 Human genes 0.000 description 2
102100035226 GDP-fucose transporter 1 Human genes 0.000 description 2
102100023448 GTP-binding protein 1 Human genes 0.000 description 2
101710102121 GTP-binding protein 1 Proteins 0.000 description 2
102100029974 GTPase HRas Human genes 0.000 description 2
208000036893 GUCY2D-related dominant retinopathy Diseases 0.000 description 2
102100037391 Gasdermin-E Human genes 0.000 description 2
102100028953 Gelsolin Human genes 0.000 description 2
102100035184 General transcription and DNA repair factor IIH helicase subunit XPD Human genes 0.000 description 2
101100478440 Gibberella moniliformis SSN8 gene Proteins 0.000 description 2
102100033417 Glucocorticoid receptor Human genes 0.000 description 2
102100040870 Glycine amidinotransferase, mitochondrial Human genes 0.000 description 2
102100023849 Glycophorin-C Human genes 0.000 description 2
101150087728 Grm5 gene Proteins 0.000 description 2
102100039214 Guanine nucleotide-binding protein G(t) subunit alpha-2 Human genes 0.000 description 2
102100033969 Guanylyl cyclase-activating protein 1 Human genes 0.000 description 2
102100031249 H/ACA ribonucleoprotein complex subunit DKC1 Human genes 0.000 description 2
102100028976 HLA class I histocompatibility antigen, B alpha chain Human genes 0.000 description 2
108010058607 HLA-B Antigens Proteins 0.000 description 2
206010019280 Heart failures Diseases 0.000 description 2
102100034459 Hepatitis A virus cellular receptor 1 Human genes 0.000 description 2
102100022054 Hepatocyte nuclear factor 4-alpha Human genes 0.000 description 2
102100035833 Histo-blood group ABO system transferase Human genes 0.000 description 2
102100039544 Homeobox protein Hox-D10 Human genes 0.000 description 2
102100040227 Homeobox protein Hox-D13 Human genes 0.000 description 2
101000929840 Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase ABHD5 Proteins 0.000 description 2
101000928753 Homo sapiens 11-beta-hydroxysteroid dehydrogenase 1 Proteins 0.000 description 2
101000985215 Homo sapiens 4-hydroxyphenylpyruvate dioxygenase Proteins 0.000 description 2
101000733040 Homo sapiens 40S ribosomal protein S19 Proteins 0.000 description 2
101000760987 Homo sapiens 5'-AMP-activated protein kinase subunit gamma-2 Proteins 0.000 description 2
101000936108 Homo sapiens ATP synthase mitochondrial F1 complex assembly factor 2 Proteins 0.000 description 2
101001029059 Homo sapiens ATP-binding cassette sub-family C member 10 Proteins 0.000 description 2
101000760581 Homo sapiens ATP-binding cassette sub-family C member 9 Proteins 0.000 description 2
101000760602 Homo sapiens ATP-binding cassette sub-family D member 1 Proteins 0.000 description 2
101000944272 Homo sapiens ATP-sensitive inward rectifier potassium channel 1 Proteins 0.000 description 2
101000614701 Homo sapiens ATP-sensitive inward rectifier potassium channel 11 Proteins 0.000 description 2
101000959247 Homo sapiens Actin, alpha cardiac muscle 1 Proteins 0.000 description 2
101000824278 Homo sapiens Acyl-[acyl-carrier-protein] hydrolase Proteins 0.000 description 2
101001000351 Homo sapiens Adenine DNA glycosylase Proteins 0.000 description 2
101000928167 Homo sapiens Adhesion G-protein coupled receptor V1 Proteins 0.000 description 2
101000717828 Homo sapiens Alpha-1,2-mannosyltransferase ALG9 Proteins 0.000 description 2
101000720032 Homo sapiens Alpha-2C adrenergic receptor Proteins 0.000 description 2
101000891982 Homo sapiens Alpha-crystallin B chain Proteins 0.000 description 2
101000797795 Homo sapiens Alstrom syndrome protein 1 Proteins 0.000 description 2
101000959114 Homo sapiens Amelogenin, X isoform Proteins 0.000 description 2
101001075525 Homo sapiens Ammonium transporter Rh type A Proteins 0.000 description 2
101000928680 Homo sapiens Amyloid beta precursor protein binding family B member 2 Proteins 0.000 description 2
101000757586 Homo sapiens Aprataxin Proteins 0.000 description 2
101000919395 Homo sapiens Aromatase Proteins 0.000 description 2
101000833576 Homo sapiens Aryl-hydrocarbon-interacting protein-like 1 Proteins 0.000 description 2
101000975827 Homo sapiens Arylsulfatase L Proteins 0.000 description 2
101000928549 Homo sapiens Autoimmune regulator Proteins 0.000 description 2
101000971230 Homo sapiens B-cell CLL/lymphoma 7 protein family member A Proteins 0.000 description 2
101000894722 Homo sapiens Bardet-Biedl syndrome 1 protein Proteins 0.000 description 2
101000697660 Homo sapiens Bardet-Biedl syndrome 4 protein Proteins 0.000 description 2
101000935638 Homo sapiens Basal cell adhesion molecule Proteins 0.000 description 2
101000892264 Homo sapiens Beta-1 adrenergic receptor Proteins 0.000 description 2
101000766145 Homo sapiens Beta-1,4-galactosyltransferase 1 Proteins 0.000 description 2
101000959437 Homo sapiens Beta-2 adrenergic receptor Proteins 0.000 description 2
101000919139 Homo sapiens Beta-crystallin A3 Proteins 0.000 description 2
101000761934 Homo sapiens Beta-ureidopropionase Proteins 0.000 description 2
101000724352 Homo sapiens Bile salt export pump Proteins 0.000 description 2
101000803270 Homo sapiens Bloom syndrome protein Proteins 0.000 description 2
101000766294 Homo sapiens Branched-chain-amino-acid aminotransferase, mitochondrial Proteins 0.000 description 2
101000897416 Homo sapiens CD209 antigen Proteins 0.000 description 2
101000897400 Homo sapiens CD59 glycoprotein Proteins 0.000 description 2
101000899442 Homo sapiens Cadherin-23 Proteins 0.000 description 2
101000710994 Homo sapiens Calcium-binding mitochondrial carrier protein Aralar2 Proteins 0.000 description 2
101000910843 Homo sapiens Carboxypeptidase N catalytic chain Proteins 0.000 description 2
101000909313 Homo sapiens Carnitine O-palmitoyltransferase 2, mitochondrial Proteins 0.000 description 2
101000983518 Homo sapiens Caspase-10 Proteins 0.000 description 2
101000983528 Homo sapiens Caspase-8 Proteins 0.000 description 2
101000753243 Homo sapiens Caytaxin Proteins 0.000 description 2
101000737028 Homo sapiens Cerebral cavernous malformations 2 protein Proteins 0.000 description 2
101000891557 Homo sapiens Chitobiosyldiphosphodolichol beta-mannosyltransferase Proteins 0.000 description 2
101000906654 Homo sapiens Chloride channel protein ClC-Kb Proteins 0.000 description 2
101000888570 Homo sapiens Claudin-14 Proteins 0.000 description 2
101000909498 Homo sapiens Collagen alpha-1(VII) chain Proteins 0.000 description 2
101000710619 Homo sapiens Collagen alpha-2(XI) chain Proteins 0.000 description 2
101000710886 Homo sapiens Collagen alpha-5(IV) chain Proteins 0.000 description 2
101000710883 Homo sapiens Complement C4-B Proteins 0.000 description 2
101000876012 Homo sapiens Conserved oligomeric Golgi complex subunit 4 Proteins 0.000 description 2
101000980044 Homo sapiens Cryptic protein Proteins 0.000 description 2
101000771071 Homo sapiens Cyclic nucleotide-gated cation channel alpha-3 Proteins 0.000 description 2
101000771083 Homo sapiens Cyclic nucleotide-gated cation channel beta-3 Proteins 0.000 description 2
101000940764 Homo sapiens Cysteine and glycine-rich protein 3 Proteins 0.000 description 2
101000875170 Homo sapiens Cytochrome P450 2A6 Proteins 0.000 description 2
101000856723 Homo sapiens Cytochrome b-245 light chain Proteins 0.000 description 2
101000956431 Homo sapiens Cytokine receptor-like factor 1 Proteins 0.000 description 2
101000915170 Homo sapiens Cytosolic 5'-nucleotidase 3A Proteins 0.000 description 2
101000920778 Homo sapiens DNA excision repair protein ERCC-8 Proteins 0.000 description 2
101000577853 Homo sapiens DNA mismatch repair protein Mlh1 Proteins 0.000 description 2
101000577867 Homo sapiens DNA mismatch repair protein Mlh3 Proteins 0.000 description 2
101000968658 Homo sapiens DNA mismatch repair protein Msh6 Proteins 0.000 description 2
101000712511 Homo sapiens DNA repair and recombination protein RAD54-like Proteins 0.000 description 2
101000620735 Homo sapiens DNA repair protein RAD51 homolog 1 Proteins 0.000 description 2
101001075432 Homo sapiens DNA-binding protein RFX5 Proteins 0.000 description 2
101000929877 Homo sapiens Delta(24)-sterol reductase Proteins 0.000 description 2
101000616408 Homo sapiens Delta-sarcoglycan Proteins 0.000 description 2
101001039272 Homo sapiens Dihydroxyacetone phosphate acyltransferase Proteins 0.000 description 2
101000832769 Homo sapiens Disintegrin and metalloproteinase domain-containing protein 9 Proteins 0.000 description 2
101000902114 Homo sapiens Disks large homolog 5 Proteins 0.000 description 2
101000927562 Homo sapiens Dopamine beta-hydroxylase Proteins 0.000 description 2
101000872267 Homo sapiens Dynein axonemal intermediate chain 1 Proteins 0.000 description 2
101000880344 Homo sapiens Elongation factor G, mitochondrial Proteins 0.000 description 2
101000813117 Homo sapiens Elongator complex protein 1 Proteins 0.000 description 2
101000925219 Homo sapiens Ephrin-B1 Proteins 0.000 description 2
101000616437 Homo sapiens Epsilon-sarcoglycan Proteins 0.000 description 2
101000920837 Homo sapiens Espin Proteins 0.000 description 2
101000931489 Homo sapiens Forkhead box protein E3 Proteins 0.000 description 2
101000930945 Homo sapiens Fragile X mental retardation syndrome-related protein 1 Proteins 0.000 description 2
101000930952 Homo sapiens Fragile X mental retardation syndrome-related protein 2 Proteins 0.000 description 2
101000584633 Homo sapiens GTPase HRas Proteins 0.000 description 2
101000584612 Homo sapiens GTPase KRas Proteins 0.000 description 2
101000726577 Homo sapiens Gap junction alpha-3 protein Proteins 0.000 description 2
101000858024 Homo sapiens Gap junction alpha-8 protein Proteins 0.000 description 2
101000954104 Homo sapiens Gap junction beta-1 protein Proteins 0.000 description 2
101001026269 Homo sapiens Gasdermin-E Proteins 0.000 description 2
101000926939 Homo sapiens Glucocorticoid receptor Proteins 0.000 description 2
101000893303 Homo sapiens Glycine amidinotransferase, mitochondrial Proteins 0.000 description 2
101001074244 Homo sapiens Glycophorin-A Proteins 0.000 description 2
101001071776 Homo sapiens Glycophorin-B Proteins 0.000 description 2
101000905336 Homo sapiens Glycophorin-C Proteins 0.000 description 2
101001039321 Homo sapiens Golgin subfamily B member 1 Proteins 0.000 description 2
101000888142 Homo sapiens Guanine nucleotide-binding protein G(t) subunit alpha-2 Proteins 0.000 description 2
101001068480 Homo sapiens Guanylyl cyclase-activating protein 1 Proteins 0.000 description 2
101000844866 Homo sapiens H/ACA ribonucleoprotein complex subunit DKC1 Proteins 0.000 description 2
101001036709 Homo sapiens Heat shock protein beta-1 Proteins 0.000 description 2
101001045740 Homo sapiens Hepatocyte nuclear factor 4-alpha Proteins 0.000 description 2
101000962573 Homo sapiens Homeobox protein Hox-D10 Proteins 0.000 description 2
101001037168 Homo sapiens Homeobox protein Hox-D13 Proteins 0.000 description 2
101000840267 Homo sapiens Immunoglobulin lambda-like polypeptide 1 Proteins 0.000 description 2
101001055253 Homo sapiens Indian hedgehog protein Proteins 0.000 description 2
101001059713 Homo sapiens Inner nuclear membrane protein Man1 Proteins 0.000 description 2
101000982538 Homo sapiens Inositol polyphosphate 5-phosphatase OCRL Proteins 0.000 description 2
101000599951 Homo sapiens Insulin-like growth factor I Proteins 0.000 description 2
101000599940 Homo sapiens Interferon gamma Proteins 0.000 description 2
101000852992 Homo sapiens Interleukin-12 subunit beta Proteins 0.000 description 2
101001076430 Homo sapiens Interleukin-13 Proteins 0.000 description 2
101001013150 Homo sapiens Interstitial collagenase Proteins 0.000 description 2
101100086477 Homo sapiens KRAS gene Proteins 0.000 description 2
101000998020 Homo sapiens Keratin, type I cytoskeletal 18 Proteins 0.000 description 2
101000975496 Homo sapiens Keratin, type II cytoskeletal 8 Proteins 0.000 description 2
101000745406 Homo sapiens Ketimine reductase mu-crystallin Proteins 0.000 description 2
101001091610 Homo sapiens Krev interaction trapped protein 1 Proteins 0.000 description 2
101000619884 Homo sapiens Lipoprotein lipase Proteins 0.000 description 2
101001018064 Homo sapiens Lysosomal-trafficking regulator Proteins 0.000 description 2
101000983747 Homo sapiens MHC class II transactivator Proteins 0.000 description 2
101100025402 Homo sapiens MYH6 gene Proteins 0.000 description 2
101000581533 Homo sapiens Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial Proteins 0.000 description 2
101001056160 Homo sapiens Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial Proteins 0.000 description 2
101000738911 Homo sapiens Mismatch repair endonuclease PMS2 Proteins 0.000 description 2
101000896657 Homo sapiens Mitotic checkpoint serine/threonine-protein kinase BUB1 Proteins 0.000 description 2
101000987117 Homo sapiens Monocarboxylate transporter 8 Proteins 0.000 description 2
101000635878 Homo sapiens Myosin light chain 3 Proteins 0.000 description 2
101000958741 Homo sapiens Myosin-6 Proteins 0.000 description 2
101000982032 Homo sapiens Myosin-binding protein C, cardiac-type Proteins 0.000 description 2
101000961071 Homo sapiens NF-kappa-B inhibitor alpha Proteins 0.000 description 2
101001128156 Homo sapiens Nanos homolog 3 Proteins 0.000 description 2
101000979306 Homo sapiens Nectin-1 Proteins 0.000 description 2
101001051490 Homo sapiens Neural cell adhesion molecule L1 Proteins 0.000 description 2
101000979333 Homo sapiens Neurofilament light polypeptide Proteins 0.000 description 2
101000603172 Homo sapiens Neuroligin-3 Proteins 0.000 description 2
101000651887 Homo sapiens Neutral and basic amino acid transport protein rBAT Proteins 0.000 description 2
101001124309 Homo sapiens Nitric oxide synthase, endothelial Proteins 0.000 description 2
101000622137 Homo sapiens P-selectin Proteins 0.000 description 2
101000692980 Homo sapiens PHD finger protein 6 Proteins 0.000 description 2
101000738901 Homo sapiens PMS1 protein homolog 1 Proteins 0.000 description 2
101000572950 Homo sapiens POU domain, class 3, transcription factor 4 Proteins 0.000 description 2
101001094737 Homo sapiens POU domain, class 4, transcription factor 3 Proteins 0.000 description 2
101000692768 Homo sapiens Paired mesoderm homeobox protein 2B Proteins 0.000 description 2
101001094048 Homo sapiens Pendrin Proteins 0.000 description 2
101001073216 Homo sapiens Period circadian protein homolog 2 Proteins 0.000 description 2
101000987578 Homo sapiens Peripherin Proteins 0.000 description 2
101001073025 Homo sapiens Peroxisomal targeting signal 1 receptor Proteins 0.000 description 2
101000741790 Homo sapiens Peroxisome proliferator-activated receptor gamma Proteins 0.000 description 2
101000873719 Homo sapiens Phakinin Proteins 0.000 description 2
101000605639 Homo sapiens Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform Proteins 0.000 description 2
101001094831 Homo sapiens Phosphomannomutase 2 Proteins 0.000 description 2
101000595674 Homo sapiens Pituitary homeobox 3 Proteins 0.000 description 2
101001064282 Homo sapiens Platelet-activating factor acetylhydrolase IB subunit beta Proteins 0.000 description 2
101000692464 Homo sapiens Platelet-derived growth factor receptor-like protein Proteins 0.000 description 2
101000620009 Homo sapiens Polyunsaturated fatty acid 5-lipoxygenase Proteins 0.000 description 2
101000974720 Homo sapiens Potassium voltage-gated channel subfamily E member 2 Proteins 0.000 description 2
101001026226 Homo sapiens Potassium voltage-gated channel subfamily KQT member 1 Proteins 0.000 description 2
101001094051 Homo sapiens Prestin Proteins 0.000 description 2
101000808590 Homo sapiens Probable ubiquitin carboxyl-terminal hydrolase FAF-Y Proteins 0.000 description 2
101000798015 Homo sapiens RAC-beta serine/threonine-protein kinase Proteins 0.000 description 2
101001112424 Homo sapiens RB1-inducible coiled-coil protein 1 Proteins 0.000 description 2
101000725943 Homo sapiens RNA polymerase II subunit A C-terminal domain phosphatase Proteins 0.000 description 2
101001130509 Homo sapiens Ras GTPase-activating protein 1 Proteins 0.000 description 2
101000584785 Homo sapiens Ras-related protein Rab-7a Proteins 0.000 description 2
101000606506 Homo sapiens Receptor-type tyrosine-protein phosphatase eta Proteins 0.000 description 2
101000703242 Homo sapiens Regulator of G-protein signaling 9 Proteins 0.000 description 2
101000945090 Homo sapiens Ribosomal protein S6 kinase alpha-3 Proteins 0.000 description 2
101000637705 Homo sapiens Ryanodine receptor 2 Proteins 0.000 description 2
101000703476 Homo sapiens SH3 and multiple ankyrin repeat domains protein 3 Proteins 0.000 description 2
101000761644 Homo sapiens SH3 domain-binding protein 2 Proteins 0.000 description 2
101000739178 Homo sapiens Secretoglobin family 3A member 2 Proteins 0.000 description 2
101000984753 Homo sapiens Serine/threonine-protein kinase B-raf Proteins 0.000 description 2
101001120990 Homo sapiens Short-wave-sensitive opsin 1 Proteins 0.000 description 2
101000832643 Homo sapiens Small ubiquitin-related modifier 4 Proteins 0.000 description 2
101000693993 Homo sapiens Sodium channel protein type 4 subunit alpha Proteins 0.000 description 2
101000585180 Homo sapiens Stereocilin Proteins 0.000 description 2
101000861263 Homo sapiens Steroid 21-hydroxylase Proteins 0.000 description 2
101000585255 Homo sapiens Steroidogenic factor 1 Proteins 0.000 description 2
101000875401 Homo sapiens Sterol 26-hydroxylase, mitochondrial Proteins 0.000 description 2
101000617130 Homo sapiens Stromal cell-derived factor 1 Proteins 0.000 description 2
101000990915 Homo sapiens Stromelysin-1 Proteins 0.000 description 2
101000951145 Homo sapiens Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial Proteins 0.000 description 2
101000687633 Homo sapiens Synaptosomal-associated protein 29 Proteins 0.000 description 2
101000946843 Homo sapiens T-cell surface glycoprotein CD8 alpha chain Proteins 0.000 description 2
101100260869 Homo sapiens TMPRSS3 gene Proteins 0.000 description 2
101000655352 Homo sapiens Telomerase reverse transcriptase Proteins 0.000 description 2
101000728490 Homo sapiens Tether containing UBX domain for GLUT4 Proteins 0.000 description 2
101000845196 Homo sapiens Tetratricopeptide repeat protein 8 Proteins 0.000 description 2
101000845269 Homo sapiens Transcription termination factor 1 Proteins 0.000 description 2
101000635938 Homo sapiens Transforming growth factor beta-1 proprotein Proteins 0.000 description 2
101000798702 Homo sapiens Transmembrane protease serine 4 Proteins 0.000 description 2
101000801701 Homo sapiens Tropomyosin alpha-1 chain Proteins 0.000 description 2
101000788548 Homo sapiens Tubulin alpha-4A chain Proteins 0.000 description 2
101000613251 Homo sapiens Tumor susceptibility gene 101 protein Proteins 0.000 description 2
101001087418 Homo sapiens Tyrosine-protein phosphatase non-receptor type 12 Proteins 0.000 description 2
101001033034 Homo sapiens UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase Proteins 0.000 description 2
101000747588 Homo sapiens UDP-glucuronosyltransferase 1-6 Proteins 0.000 description 2
101000841498 Homo sapiens UDP-glucuronosyltransferase 1A1 Proteins 0.000 description 2
101000585635 Homo sapiens Unconventional myosin-XV Proteins 0.000 description 2
101000638886 Homo sapiens Urokinase-type plasminogen activator Proteins 0.000 description 2
101000667092 Homo sapiens Vacuolar protein sorting-associated protein 13A Proteins 0.000 description 2
101000667110 Homo sapiens Vacuolar protein sorting-associated protein 13B Proteins 0.000 description 2
101000807859 Homo sapiens Vasopressin V2 receptor Proteins 0.000 description 2
101000775932 Homo sapiens Vesicle-associated membrane protein-associated protein B/C Proteins 0.000 description 2
101000965721 Homo sapiens Volume-regulated anion channel subunit LRRC8A Proteins 0.000 description 2
101001104110 Homo sapiens X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 Proteins 0.000 description 2
101000894746 Homo sapiens b(0,+)-type amino acid transporter 1 Proteins 0.000 description 2
206010020649 Hyperkeratosis Diseases 0.000 description 2
206010020772 Hypertension Diseases 0.000 description 2
102100021711 Ileal sodium/bile acid cotransporter Human genes 0.000 description 2
201000004029 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Diseases 0.000 description 2
206010061598 Immunodeficiency Diseases 0.000 description 2
208000029462 Immunodeficiency disease Diseases 0.000 description 2
102100029616 Immunoglobulin lambda-like polypeptide 1 Human genes 0.000 description 2
101710139099 Indian hedgehog protein Proteins 0.000 description 2
102100028799 Inner nuclear membrane protein Man1 Human genes 0.000 description 2
102100020796 Inosine 5'-monophosphate cyclohydrolase Human genes 0.000 description 2
102100026724 Inositol polyphosphate 5-phosphatase OCRL Human genes 0.000 description 2
102100037852 Insulin-like growth factor I Human genes 0.000 description 2
101710180845 Integral membrane protein 2B Proteins 0.000 description 2
102100037850 Interferon gamma Human genes 0.000 description 2
102100036701 Interleukin-12 subunit beta Human genes 0.000 description 2
102100026011 Interleukin-13 Human genes 0.000 description 2
102000013691 Interleukin-17 Human genes 0.000 description 2
108050003558 Interleukin-17 Proteins 0.000 description 2
102100039078 Interleukin-4 receptor subunit alpha Human genes 0.000 description 2
102000017792 KCNJ11 Human genes 0.000 description 2
108010011185 KCNQ1 Potassium Channel Proteins 0.000 description 2
101150090242 KRIT1 gene Proteins 0.000 description 2
102100033421 Keratin, type I cytoskeletal 18 Human genes 0.000 description 2
102100023972 Keratin, type II cytoskeletal 8 Human genes 0.000 description 2
102100039386 Ketimine reductase mu-crystallin Human genes 0.000 description 2
WHUUTDBJXJRKMK-VKHMYHEASA-N L-glutamic acid Chemical compound OC(=O)[C@@H](N)CCC(O)=O WHUUTDBJXJRKMK-VKHMYHEASA-N 0.000 description 2
OUYCCCASQSFEME-QMMMGPOBSA-N L-tyrosine Chemical compound OC(=O)[C@@H](N)CC1=CC=C(O)C=C1 OUYCCCASQSFEME-QMMMGPOBSA-N 0.000 description 2
208000008972 Laurence-Moon syndrome Diseases 0.000 description 2
102100026038 Lens fiber membrane intrinsic protein Human genes 0.000 description 2
102000016267 Leptin Human genes 0.000 description 2
108010092277 Leptin Proteins 0.000 description 2
108010020246 Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 Proteins 0.000 description 2
102100032693 Leucine-rich repeat serine/threonine-protein kinase 2 Human genes 0.000 description 2
208000030514 Leukocyte adhesion deficiency type II Diseases 0.000 description 2
108010013563 Lipoprotein Lipase Proteins 0.000 description 2
201000005027 Lynch syndrome Diseases 0.000 description 2
102100033472 Lysosomal-trafficking regulator Human genes 0.000 description 2
102100026371 MHC class II transactivator Human genes 0.000 description 2
229910015837 MSH2 Inorganic materials 0.000 description 2
102100025297 Mannose-P-dolichol utilization defect 1 protein Human genes 0.000 description 2
101710110798 Mannose-binding protein C Proteins 0.000 description 2
208000001826 Marfan syndrome Diseases 0.000 description 2
208000031903 Marfan syndrome type 1 Diseases 0.000 description 2
102000000380 Matrix Metalloproteinase 1 Human genes 0.000 description 2
102000056430 Member 1 Solute Carrier Family 12 Human genes 0.000 description 2
108010047230 Member 1 Subfamily B ATP Binding Cassette Transporter Proteins 0.000 description 2
108010093662 Member 11 Subfamily B ATP Binding Cassette Transporter Proteins 0.000 description 2
108010072388 Methyl-CpG-Binding Protein 2 Proteins 0.000 description 2
102100027320 Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial Human genes 0.000 description 2
102100026552 Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial Human genes 0.000 description 2
101710099430 Microtubule-associated protein RP/EB family member 3 Proteins 0.000 description 2
101710115937 Microtubule-associated protein tau Proteins 0.000 description 2
102100038738 Mitochondrial carnitine/acylcarnitine carrier protein Human genes 0.000 description 2
102100021691 Mitotic checkpoint serine/threonine-protein kinase BUB1 Human genes 0.000 description 2
108010066419 Multidrug Resistance-Associated Protein 2 Proteins 0.000 description 2
206010073148 Multiple endocrine neoplasia type 2A Diseases 0.000 description 2
101100067094 Mus musculus Foxl2 gene Proteins 0.000 description 2
101100127196 Mus musculus Kera gene Proteins 0.000 description 2
241000699670 Mus sp. Species 0.000 description 2
108700031745 MutS Homolog 2 Proteins 0.000 description 2
108010009047 Myosin VIIa Proteins 0.000 description 2
102100030971 Myosin light chain 3 Human genes 0.000 description 2
102100026771 Myosin-binding protein C, cardiac-type Human genes 0.000 description 2
102100023963 NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial Human genes 0.000 description 2
101150114886 NECTIN1 gene Proteins 0.000 description 2
101710090077 NF-kappa-B essential modulator Proteins 0.000 description 2
102100039337 NF-kappa-B inhibitor alpha Human genes 0.000 description 2
102000002451 NPR2 Human genes 0.000 description 2
102000002356 Nectin Human genes 0.000 description 2
108060005251 Nectin Proteins 0.000 description 2
208000018909 Neonatal adrenoleukodystrophy Diseases 0.000 description 2
101710203761 Neurexin-1 Proteins 0.000 description 2
102100021582 Neurexin-1-beta Human genes 0.000 description 2
102100025247 Neurogenic locus notch homolog protein 3 Human genes 0.000 description 2
102100038940 Neuroligin-3 Human genes 0.000 description 2
101100462611 Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987) prr-1 gene Proteins 0.000 description 2
102100028452 Nitric oxide synthase, endothelial Human genes 0.000 description 2
108020004485 Nonsense Codon Proteins 0.000 description 2
108010077850 Nuclear Localization Signals Proteins 0.000 description 2
102100034198 Otoferlin Human genes 0.000 description 2
102100023472 P-selectin Human genes 0.000 description 2
238000012408 PCR amplification Methods 0.000 description 2
102100037482 PMS1 protein homolog 1 Human genes 0.000 description 2
229910019256 POF3 Inorganic materials 0.000 description 2
102100026450 POU domain, class 3, transcription factor 4 Human genes 0.000 description 2
102100035398 POU domain, class 4, transcription factor 3 Human genes 0.000 description 2
108010016731 PPAR gamma Proteins 0.000 description 2
102100026354 Paired mesoderm homeobox protein 2B Human genes 0.000 description 2
102000005327 Palmitoyl protein thioesterase Human genes 0.000 description 2
108020002591 Palmitoyl protein thioesterase Proteins 0.000 description 2
206010048705 Paraneoplastic cerebellar degeneration Diseases 0.000 description 2
208000017787 Paraneoplastic neurologic syndrome Diseases 0.000 description 2
206010033885 Paraparesis Diseases 0.000 description 2
102100035278 Pendrin Human genes 0.000 description 2
102100035787 Period circadian protein homolog 2 Human genes 0.000 description 2
102100028465 Peripherin Human genes 0.000 description 2
101710178747 Phosphatidate cytidylyltransferase 1 Proteins 0.000 description 2
102100038332 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform Human genes 0.000 description 2
102100035362 Phosphomannomutase 2 Human genes 0.000 description 2
102100029742 Plasma membrane calcium-transporting ATPase 2 Human genes 0.000 description 2
102100037518 Platelet-activating factor acetylhydrolase Human genes 0.000 description 2
102100030655 Platelet-activating factor acetylhydrolase IB subunit beta Human genes 0.000 description 2
102100026554 Platelet-derived growth factor receptor-like protein Human genes 0.000 description 2
RVGRUAULSDPKGF-UHFFFAOYSA-N Poloxamer Chemical compound C1CO1.CC1CO1 RVGRUAULSDPKGF-UHFFFAOYSA-N 0.000 description 2
102100022364 Polyunsaturated fatty acid 5-lipoxygenase Human genes 0.000 description 2
102100022752 Potassium voltage-gated channel subfamily E member 2 Human genes 0.000 description 2
102100033237 Pro-epidermal growth factor Human genes 0.000 description 2
102100038600 Probable ubiquitin carboxyl-terminal hydrolase FAF-Y Human genes 0.000 description 2
101710190829 Progressive ankylosis protein homolog Proteins 0.000 description 2
241000709748 Pseudomonas phage PRR1 Species 0.000 description 2
101710184733 Pterin-4-alpha-carbinolamine dehydratase Proteins 0.000 description 2
102100021702 Putative cytochrome P450 2D7 Human genes 0.000 description 2
102100032315 RAC-beta serine/threonine-protein kinase Human genes 0.000 description 2
102100023588 RB1-inducible coiled-coil protein 1 Human genes 0.000 description 2
102100027669 RNA polymerase II subunit A C-terminal domain phosphatase Human genes 0.000 description 2
102000004229 RNA-binding protein EWS Human genes 0.000 description 2
108090000740 RNA-binding protein EWS Proteins 0.000 description 2
208000036448 RPGR-related retinopathy Diseases 0.000 description 2
208000018688 Rapid-onset dystonia-parkinsonism Diseases 0.000 description 2
102100031426 Ras GTPase-activating protein 1 Human genes 0.000 description 2
102100030019 Ras-related protein Rab-7a Human genes 0.000 description 2
101100489893 Rattus norvegicus Abcg2 gene Proteins 0.000 description 2
101000823071 Rattus norvegicus Amyloid-beta precursor protein Proteins 0.000 description 2
102100039808 Receptor-type tyrosine-protein phosphatase eta Human genes 0.000 description 2
101800000836 Red carotenoid-binding protein Proteins 0.000 description 2
201000000582 Retinoblastoma Diseases 0.000 description 2
102100033643 Ribosomal protein S6 kinase alpha-3 Human genes 0.000 description 2
102100032121 Ryanodine receptor 2 Human genes 0.000 description 2
102100024865 SH3 domain-binding protein 2 Human genes 0.000 description 2
108091006621 SLC12A1 Proteins 0.000 description 2
108091006418 SLC25A13 Proteins 0.000 description 2
108091006299 SLC2A2 Proteins 0.000 description 2
108091006300 SLC2A4 Proteins 0.000 description 2
108091006239 SLC7A9 Proteins 0.000 description 2
102100027697 Sarcoplasmic/endoplasmic reticulum calcium ATPase 1 Human genes 0.000 description 2
101100408805 Schizosaccharomyces pombe (strain 972 / ATCC 24843) pof3 gene Proteins 0.000 description 2
208000018675 Schwartz-Jampel syndrome Diseases 0.000 description 2
102100037269 Secretoglobin family 3A member 2 Human genes 0.000 description 2
108010005020 Serine Peptidase Inhibitor Kazal-Type 5 Proteins 0.000 description 2
102100025420 Serine protease inhibitor Kazal-type 5 Human genes 0.000 description 2
102100027103 Serine/threonine-protein kinase B-raf Human genes 0.000 description 2
102100030547 Serotonin N-acetyltransferase Human genes 0.000 description 2
208000020548 Sheldon-hall syndrome Diseases 0.000 description 2
102100024535 Small ubiquitin-related modifier 4 Human genes 0.000 description 2
102100032799 Smoothened homolog Human genes 0.000 description 2
102100027195 Sodium channel protein type 4 subunit alpha Human genes 0.000 description 2
102100023537 Solute carrier family 2, facilitated glucose transporter member 2 Human genes 0.000 description 2
102100033939 Solute carrier family 2, facilitated glucose transporter member 4 Human genes 0.000 description 2
208000032005 Spinocerebellar ataxia with axonal neuropathy type 2 Diseases 0.000 description 2
102100029924 Stereocilin Human genes 0.000 description 2
108010049356 Steroid 11-beta-Hydroxylase Proteins 0.000 description 2
108010015330 Steroid 17-alpha-Hydroxylase Proteins 0.000 description 2
102100027545 Steroid 21-hydroxylase Human genes 0.000 description 2
102100021669 Stromal cell-derived factor 1 Human genes 0.000 description 2
102100030416 Stromelysin-1 Human genes 0.000 description 2
102100038014 Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial Human genes 0.000 description 2
101710139715 Superoxide dismutase [Cu-Zn] Proteins 0.000 description 2
102100036235 Synaptonemal complex protein 3 Human genes 0.000 description 2
102100024836 Synaptosomal-associated protein 29 Human genes 0.000 description 2
102100036771 T-box transcription factor TBX1 Human genes 0.000 description 2
101710167705 T-box transcription factor TBX1 Proteins 0.000 description 2
102100034922 T-cell surface glycoprotein CD8 alpha chain Human genes 0.000 description 2
101800000849 Tachykinin-associated peptide 2 Proteins 0.000 description 2
101710175789 Tafazzin Proteins 0.000 description 2
102100028082 Tapasin Human genes 0.000 description 2
208000028911 Temporomandibular Joint disease Diseases 0.000 description 2
102100031271 Tetratricopeptide repeat protein 8 Human genes 0.000 description 2
108010057966 Thyroid Nuclear Factor 1 Proteins 0.000 description 2
208000034434 Titin-related limb-girdle muscular dystrophy R10 Diseases 0.000 description 2
102000040945 Transcription factor Human genes 0.000 description 2
108091023040 Transcription factor Proteins 0.000 description 2
102000004060 Transforming Growth Factor-beta Type II Receptor Human genes 0.000 description 2
108010082684 Transforming Growth Factor-beta Type II Receptor Proteins 0.000 description 2
102100030742 Transforming growth factor beta-1 proprotein Human genes 0.000 description 2
208000008963 Transient myeloproliferative syndrome Diseases 0.000 description 2
102100033632 Tropomyosin alpha-1 chain Human genes 0.000 description 2
102100025239 Tubulin alpha-4A chain Human genes 0.000 description 2
101710140697 Tumor protein 63 Proteins 0.000 description 2
102100040879 Tumor susceptibility gene 101 protein Human genes 0.000 description 2
108010046308 Type II DNA Topoisomerases Proteins 0.000 description 2
102100033020 Tyrosine-protein phosphatase non-receptor type 12 Human genes 0.000 description 2
102100033138 Tyrosine-protein phosphatase non-receptor type 22 Human genes 0.000 description 2
102100038413 UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase Human genes 0.000 description 2
102100033782 UDP-galactose translocator Human genes 0.000 description 2
101710148271 UDP-glucose:glycoprotein glucosyltransferase 1 Proteins 0.000 description 2
102100040198 UDP-glucuronosyltransferase 1-6 Human genes 0.000 description 2
102100030434 Ubiquitin-protein ligase E3A Human genes 0.000 description 2
102100029836 Unconventional myosin-XV Human genes 0.000 description 2
102100031358 Urokinase-type plasminogen activator Human genes 0.000 description 2
102100039114 Vacuolar protein sorting-associated protein 13A Human genes 0.000 description 2
108010073929 Vascular Endothelial Growth Factor A Proteins 0.000 description 2
108010019530 Vascular Endothelial Growth Factors Proteins 0.000 description 2
102100039037 Vascular endothelial growth factor A Human genes 0.000 description 2
102100032026 Vesicle-associated membrane protein-associated protein B/C Human genes 0.000 description 2
102100040985 Volume-regulated anion channel subunit LRRC8A Human genes 0.000 description 2
101150112441 Vsx1 gene Proteins 0.000 description 2
208000023940 X-Linked Combined Immunodeficiency disease Diseases 0.000 description 2
102100038151 X-box-binding protein 1 Human genes 0.000 description 2
201000000467 X-linked cone-rod dystrophy 1 Diseases 0.000 description 2
208000032810 X-linked dominant chondrodysplasia punctata Diseases 0.000 description 2
102100040089 X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 Human genes 0.000 description 2
101710185494 Zinc finger protein Proteins 0.000 description 2
102100023597 Zinc finger protein 816 Human genes 0.000 description 2
102100023140 Zinc transporter ZIP4 Human genes 0.000 description 2
208000004622 abetalipoproteinemia Diseases 0.000 description 2
201000010272 acanthosis nigricans Diseases 0.000 description 2
208000002771 achromatopsia 2 Diseases 0.000 description 2
208000003012 achromatopsia 3 Diseases 0.000 description 2
201000002553 achromatopsia 4 Diseases 0.000 description 2
239000002253 acid Substances 0.000 description 2
208000025531 adult-onset foveomacular vitelliform dystrophy Diseases 0.000 description 2
201000007034 advanced sleep phase syndrome Diseases 0.000 description 2
201000007930 alcohol dependence Diseases 0.000 description 2
108010029483 alpha 1 Chain Collagen Type I Proteins 0.000 description 2
201000006288 alpha thalassemia Diseases 0.000 description 2
201000000673 alpha-methylacyl-CoA racemase deficiency Diseases 0.000 description 2
208000008524 alveolar soft part sarcoma Diseases 0.000 description 2
230000003321 amplification Effects 0.000 description 2
201000008266 amyotrophic lateral sclerosis type 2 Diseases 0.000 description 2
201000008715 amyotrophic lateral sclerosis type 8 Diseases 0.000 description 2
210000004102 animal cell Anatomy 0.000 description 2
208000025150 arthrogryposis multiplex congenita Diseases 0.000 description 2
208000013414 ataxia-telangiectasia-like disease Diseases 0.000 description 2
201000006071 autosomal dominant nonsyndromic deafness 1 Diseases 0.000 description 2
201000006069 autosomal dominant nonsyndromic deafness 10 Diseases 0.000 description 2
201000005815 autosomal dominant nonsyndromic deafness 20 Diseases 0.000 description 2
201000005770 autosomal dominant nonsyndromic deafness 36 Diseases 0.000 description 2
208000035997 autosomal dominant nonsyndromic hearing loss 1 Diseases 0.000 description 2
208000035499 autosomal dominant nonsyndromic hearing loss 10 Diseases 0.000 description 2
208000034295 autosomal dominant nonsyndromic hearing loss 20 Diseases 0.000 description 2
208000033168 autosomal dominant nonsyndromic hearing loss 36 Diseases 0.000 description 2
201000001036 autosomal recessive chronic granulomatous disease cytochrome b-positive type I Diseases 0.000 description 2
201000009539 autosomal recessive limb-girdle muscular dystrophy type 2J Diseases 0.000 description 2
208000033361 autosomal recessive with axonal neuropathy 2 spinocerebellar ataxia Diseases 0.000 description 2
230000003376 axonal effect Effects 0.000 description 2
206010003883 azoospermia Diseases 0.000 description 2
208000018300 basal ganglia disease Diseases 0.000 description 2
108700000707 bcl-2-Associated X Proteins 0.000 description 2
230000002146 bilateral effect Effects 0.000 description 2
201000007728 blue cone monochromacy Diseases 0.000 description 2
201000003241 brachydactyly type A1 Diseases 0.000 description 2
229940077737 brain-derived neurotrophic factor Drugs 0.000 description 2
206010071135 branchio-oto-renal syndrome Diseases 0.000 description 2
201000005973 campomelic dysplasia Diseases 0.000 description 2
201000011510 cancer Diseases 0.000 description 2
201000007303 central core myopathy Diseases 0.000 description 2
208000029429 cerebral cavernous malformation 2 Diseases 0.000 description 2
201000000012 cerebral cavernous malformation 3 Diseases 0.000 description 2
208000001088 cerebrotendinous xanthomatosis Diseases 0.000 description 2
238000006243 chemical reaction Methods 0.000 description 2
201000003053 cold-induced sweating syndrome Diseases 0.000 description 2
201000010897 colon adenocarcinoma Diseases 0.000 description 2
201000008560 complement component 3 deficiency Diseases 0.000 description 2
150000001875 compounds Chemical class 0.000 description 2
201000000464 cone-rod dystrophy 2 Diseases 0.000 description 2
201000000440 cone-rod dystrophy 6 Diseases 0.000 description 2
201000000398 cone-rod dystrophy 9 Diseases 0.000 description 2
210000000877 corpus callosum Anatomy 0.000 description 2
201000004076 cortisone reductase deficiency Diseases 0.000 description 2
208000000576 craniofacial-deafness-hand syndrome Diseases 0.000 description 2
201000000160 cryptorchidism Diseases 0.000 description 2
201000007394 diastrophic dysplasia Diseases 0.000 description 2
201000011290 dilated cardiomyopathy 1G Diseases 0.000 description 2
201000011262 dilated cardiomyopathy 1J Diseases 0.000 description 2
238000006471 dimerization reaction Methods 0.000 description 2
238000002224 dissection Methods 0.000 description 2
201000007850 distal arthrogryposis Diseases 0.000 description 2
208000001587 distal arthrogryposis type 2B Diseases 0.000 description 2
206010013663 drug dependence Diseases 0.000 description 2
206010013932 dyslexia Diseases 0.000 description 2
208000002609 dystonia 12 Diseases 0.000 description 2
208000018617 ectodermal dysplasia 1 Diseases 0.000 description 2
201000001450 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 Diseases 0.000 description 2
238000005516 engineering process Methods 0.000 description 2
229940116977 epidermal growth factor Drugs 0.000 description 2
208000013778 familial hemiplegic migraine 2 Diseases 0.000 description 2
208000011532 familial hyperinsulinism Diseases 0.000 description 2
201000003264 familial isolated deficiency of vitamin E Diseases 0.000 description 2
238000002073 fluorescence micrograph Methods 0.000 description 2
102000037865 fusion proteins Human genes 0.000 description 2
108020001507 fusion proteins Proteins 0.000 description 2
239000000499 gel Substances 0.000 description 2
208000031169 hemorrhagic disease Diseases 0.000 description 2
230000002440 hepatic effect Effects 0.000 description 2
201000001661 hereditary nonpolyposis colorectal cancer type 5 Diseases 0.000 description 2
201000001659 hereditary nonpolyposis colorectal cancer type 6 Diseases 0.000 description 2
201000001651 hereditary nonpolyposis colorectal cancer type 7 Diseases 0.000 description 2
208000008394 holoprosencephaly 7 Diseases 0.000 description 2
JYGXADMDTFJGBT-VWUMJDOOSA-N hydrocortisone Chemical compound O=C1CC[C@]2(C)[C@H]3[C@@H](O)C[C@](C)([C@@](CC4)(O)C(=O)CO)[C@@H]4[C@@H]3CCC2=C1 JYGXADMDTFJGBT-VWUMJDOOSA-N 0.000 description 2
201000010551 hypertrophic cardiomyopathy 2 Diseases 0.000 description 2
201000010542 hypertrophic cardiomyopathy 4 Diseases 0.000 description 2
206010021198 ichthyosis Diseases 0.000 description 2
230000007813 immunodeficiency Effects 0.000 description 2
238000001727 in vivo Methods 0.000 description 2
230000001939 inductive effect Effects 0.000 description 2
201000008638 inflammatory bowel disease 1 Diseases 0.000 description 2
238000002955 isolation Methods 0.000 description 2
208000032799 juvenile amyotrophic lateral sclerosis type 2 Diseases 0.000 description 2
108010024383 kallikrein 4 Proteins 0.000 description 2
229940039781 leptin Drugs 0.000 description 2
NRYBAZVQPHGZNS-ZSOCWYAHSA-N leptin Chemical compound O=C([C@H](CO)NC(=O)[C@H](CC(C)C)NC(=O)[C@H](CC(O)=O)NC(=O)[C@H](CC(C)C)NC(=O)[C@H](CCC(N)=O)NC(=O)[C@H](CC=1C2=CC=CC=C2NC=1)NC(=O)[C@H](CC(C)C)NC(=O)[C@@H](NC(=O)[C@H](CC(O)=O)NC(=O)[C@H](CCC(N)=O)NC(=O)[C@H](CC(C)C)NC(=O)[C@H](CO)NC(=O)CNC(=O)[C@H](CCC(N)=O)NC(=O)[C@@H](N)CC(C)C)CCSC)N1CCC[C@H]1C(=O)NCC(=O)N[C@@H](CS)C(O)=O NRYBAZVQPHGZNS-ZSOCWYAHSA-N 0.000 description 2
208000032839 leukemia Diseases 0.000 description 2
210000004558 lewy body Anatomy 0.000 description 2
208000005541 limb-mammary syndrome Diseases 0.000 description 2
238000001638 lipofection Methods 0.000 description 2
239000006166 lysate Substances 0.000 description 2
208000002780 macular degeneration Diseases 0.000 description 2
230000036244 malformation Effects 0.000 description 2
GLVAUDGFNGKCSF-UHFFFAOYSA-N mercaptopurine Chemical compound S=C1NC=NC2=C1NC=N2 GLVAUDGFNGKCSF-UHFFFAOYSA-N 0.000 description 2
230000008811 mitochondrial respiratory chain Effects 0.000 description 2
102000035118 modified proteins Human genes 0.000 description 2
108091005573 modified proteins Proteins 0.000 description 2
210000000472 morula Anatomy 0.000 description 2
230000002580 nephropathic effect Effects 0.000 description 2
230000001537 neural effect Effects 0.000 description 2
108010090677 neurofilament protein L Proteins 0.000 description 2
201000001119 neuropathy Diseases 0.000 description 2
230000007823 neuropathy Effects 0.000 description 2
230000037434 nonsense mutation Effects 0.000 description 2
238000003199 nucleic acid amplification method Methods 0.000 description 2
210000004940 nucleus Anatomy 0.000 description 2
238000005457 optimization Methods 0.000 description 2
210000000056 organ Anatomy 0.000 description 2
230000002611 ovarian Effects 0.000 description 2
108700025694 p53 Genes Proteins 0.000 description 2
230000036961 partial effect Effects 0.000 description 2
FFUQCRZBKUBHQT-UHFFFAOYSA-N phosphoryl fluoride Chemical compound FP(F)(F)=O FFUQCRZBKUBHQT-UHFFFAOYSA-N 0.000 description 2
229960000502 poloxamer Drugs 0.000 description 2
229920001983 poloxamer Polymers 0.000 description 2
208000032307 premature centromere division Diseases 0.000 description 2
201000009266 primary ciliary dyskinesia Diseases 0.000 description 2
ODLMAHJVESYWTB-UHFFFAOYSA-N propylbenzene Chemical compound CCCC1=CC=CC=C1 ODLMAHJVESYWTB-UHFFFAOYSA-N 0.000 description 2
201000003004 ptosis Diseases 0.000 description 2
238000010188 recombinant method Methods 0.000 description 2
230000000306 recurrent effect Effects 0.000 description 2
108010064950 regulator of g-protein signaling 9 Proteins 0.000 description 2
235000020945 retinal Nutrition 0.000 description 2
239000011604 retinal Substances 0.000 description 2
230000002207 retinal effect Effects 0.000 description 2
238000003757 reverse transcription PCR Methods 0.000 description 2
238000012216 screening Methods 0.000 description 2
230000001148 spastic effect Effects 0.000 description 2
ATHGHQPFGPMSJY-UHFFFAOYSA-N spermidine Chemical compound NCCCCNCCCN ATHGHQPFGPMSJY-UHFFFAOYSA-N 0.000 description 2
201000003258 split hand-foot malformation 4 Diseases 0.000 description 2
208000011117 substance-related disease Diseases 0.000 description 2
238000006467 substitution reaction Methods 0.000 description 2
208000031906 susceptibility to X-linked 2 autism Diseases 0.000 description 2
230000009885 systemic effect Effects 0.000 description 2
208000016505 systemic primary carnitine deficiency disease Diseases 0.000 description 2
108010057210 telomerase RNA Proteins 0.000 description 2
230000002123 temporal effect Effects 0.000 description 2
230000035897 transcription Effects 0.000 description 2
238000013518 transcription Methods 0.000 description 2
208000014903 transposition of the great arteries Diseases 0.000 description 2
230000001173 tumoral effect Effects 0.000 description 2
208000001072 type 2 diabetes mellitus Diseases 0.000 description 2
VBEQCZHXXJYVRD-GACYYNSASA-N uroanthelone Chemical compound C([C@@H](C(=O)N[C@H](C(=O)N[C@@H](CS)C(=O)N[C@@H](CC(N)=O)C(=O)N[C@@H](CS)C(=O)N[C@H](C(=O)N[C@@H]([C@@H](C)CC)C(=O)NCC(=O)N[C@@H](CC=1C=CC(O)=CC=1)C(=O)N[C@@H](CO)C(=O)NCC(=O)N[C@@H](CC(O)=O)C(=O)N[C@@H](CCCNC(N)=N)C(=O)N[C@@H](CS)C(=O)N[C@@H](CCC(N)=O)C(=O)N[C@@H]([C@@H](C)O)C(=O)N[C@@H](CCCNC(N)=N)C(=O)N[C@@H](CC(O)=O)C(=O)N[C@@H](CC(C)C)C(=O)N[C@@H](CCCNC(N)=N)C(=O)N[C@@H](CC=1C2=CC=CC=C2NC=1)C(=O)N[C@@H](CC=1C2=CC=CC=C2NC=1)C(=O)N[C@@H](CCC(O)=O)C(=O)N[C@@H](CC(C)C)C(=O)N[C@@H](CCCNC(N)=N)C(O)=O)C(C)C)[C@@H](C)O)NC(=O)[C@H](CO)NC(=O)[C@H](CC(O)=O)NC(=O)[C@H](CC(C)C)NC(=O)[C@H](CO)NC(=O)[C@H](CCC(O)=O)NC(=O)[C@@H](NC(=O)[C@H](CC=1NC=NC=1)NC(=O)[C@H](CCSC)NC(=O)[C@H](CS)NC(=O)[C@@H](NC(=O)CNC(=O)CNC(=O)[C@H](CC(N)=O)NC(=O)[C@H](CC(C)C)NC(=O)[C@H](CS)NC(=O)[C@H](CC=1C=CC(O)=CC=1)NC(=O)CNC(=O)[C@H](CC(O)=O)NC(=O)[C@H](CC=1C=CC(O)=CC=1)NC(=O)[C@H](CO)NC(=O)[C@H](CO)NC(=O)[C@H]1N(CCC1)C(=O)[C@H](CS)NC(=O)CNC(=O)[C@H]1N(CCC1)C(=O)[C@H](CC=1C=CC(O)=CC=1)NC(=O)[C@H](CO)NC(=O)[C@@H](N)CC(N)=O)C(C)C)[C@@H](C)CC)C1=CC=C(O)C=C1 VBEQCZHXXJYVRD-GACYYNSASA-N 0.000 description 2
239000003981 vehicle Substances 0.000 description 2
230000002861 ventricular Effects 0.000 description 2
239000013603 viral vector Substances 0.000 description 2
NCYCYZXNIZJOKI-UHFFFAOYSA-N vitamin A aldehyde Natural products O=CC=C(C)C=CC=C(C)C=CC1=C(C)CCCC1(C)C NCYCYZXNIZJOKI-UHFFFAOYSA-N 0.000 description 2
208000020938 vitelliform macular dystrophy 2 Diseases 0.000 description 2
QGBNWHBKVFAIJY-JTQLQIEISA-N (2S)-2-acetamido-4-methylsulfanyl-N-(3-methylsulfanylpropyl)butanamide Chemical compound CSCCCNC(=O)[C@H](CCSC)NC(C)=O QGBNWHBKVFAIJY-JTQLQIEISA-N 0.000 description 1
PEKYNTFSOBAABV-LQUDNSJZSA-N (2S,3S)-3-hydroxy-2-methylbutanoyl-CoA Chemical compound O[C@@H]1[C@H](OP(O)(O)=O)[C@@H](COP(O)(=O)OP(O)(=O)OCC(C)(C)[C@@H](O)C(=O)NCCC(=O)NCCSC(=O)[C@@H](C)[C@@H](O)C)O[C@H]1N1C2=NC=NC(N)=C2N=C1 PEKYNTFSOBAABV-LQUDNSJZSA-N 0.000 description 1
102100038028 1-phosphatidylinositol 3-phosphate 5-kinase Human genes 0.000 description 1
108700034602 2 Familial Hypertrophic Cardiomyopathy Proteins 0.000 description 1
OXURYBANZVUSFY-UHFFFAOYSA-N 2-[3-(diaminomethylideneamino)propyl]butanedioic acid Chemical compound NC(N)=NCCCC(C(O)=O)CC(O)=O OXURYBANZVUSFY-UHFFFAOYSA-N 0.000 description 1
AKEMIRQFANFFKU-NCYRAAIKSA-N 2-[[(2s,4as,6ar,6as,6br,8ar,10s,12as)-10-(2-carboxybenzoyl)oxy-2,4a,6a,6b,9,9,12a-heptamethyl-1,3,4,5,6,6a,7,8,8a,10,11,12-dodecahydropicen-2-yl]methoxycarbonyl]benzoic acid Chemical compound C([C@]1(C)CC2=C3[C@@]([C@@]4(CC[C@H]5C(C)(C)[C@@H](OC(=O)C=6C(=CC=CC=6)C(O)=O)CC[C@]5(C)[C@H]4C=C3)C)(C)CC[C@@]2(C)CC1)OC(=O)C1=CC=CC=C1C(O)=O AKEMIRQFANFFKU-NCYRAAIKSA-N 0.000 description 1
CDSZITPHFYDYIK-UHFFFAOYSA-N 2-[[ethyl(2-methylpropoxy)phosphinothioyl]sulfanylmethyl]isoindole-1,3-dione Chemical compound C1=CC=C2C(=O)N(CSP(=S)(OCC(C)C)CC)C(=O)C2=C1 CDSZITPHFYDYIK-UHFFFAOYSA-N 0.000 description 1
101710186725 2-acylglycerol O-acyltransferase 2 Proteins 0.000 description 1
GPIQOFWTZXXOOV-UHFFFAOYSA-N 2-chloro-4,6-dimethoxy-1,3,5-triazine Chemical compound COC1=NC(Cl)=NC(OC)=N1 GPIQOFWTZXXOOV-UHFFFAOYSA-N 0.000 description 1
MZZYGYNZAOVRTG-UHFFFAOYSA-N 2-hydroxy-n-(1h-1,2,4-triazol-5-yl)benzamide Chemical compound OC1=CC=CC=C1C(=O)NC1=NC=NN1 MZZYGYNZAOVRTG-UHFFFAOYSA-N 0.000 description 1
208000006044 2-methylbutyryl-CoA dehydrogenase deficiency Diseases 0.000 description 1
108700034601 3 Familial Hypertrophic Cardiomyopathy Proteins 0.000 description 1
102100024824 3 beta-hydroxysteroid dehydrogenase type 7 Human genes 0.000 description 1
108010067083 3 beta-hydroxysteroid dehydrogenase type II Proteins 0.000 description 1
108700005239 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Proteins 0.000 description 1
102000009878 3-Hydroxysteroid Dehydrogenases Human genes 0.000 description 1
201000002952 3-M syndrome Diseases 0.000 description 1
102100040842 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase FUT3 Human genes 0.000 description 1
102100039358 3-hydroxyacyl-CoA dehydrogenase type-2 Human genes 0.000 description 1
102100035923 4-aminobutyrate aminotransferase, mitochondrial Human genes 0.000 description 1
102100027271 40S ribosomal protein SA Human genes 0.000 description 1
101710169336 5'-deoxyadenosine deaminase Proteins 0.000 description 1
102100031020 5-aminolevulinate synthase, erythroid-specific, mitochondrial Human genes 0.000 description 1
101710200955 5-aminolevulinate synthase, erythroid-specific, mitochondrial Proteins 0.000 description 1
102100031126 6-phosphogluconolactonase Human genes 0.000 description 1
FWXNJWAXBVMBGL-UHFFFAOYSA-N 9-n,9-n,10-n,10-n-tetrakis(4-methylphenyl)anthracene-9,10-diamine Chemical compound C1=CC(C)=CC=C1N(C=1C2=CC=CC=C2C(N(C=2C=CC(C)=CC=2)C=2C=CC(C)=CC=2)=C2C=CC=CC2=1)C1=CC=C(C)C=C1 FWXNJWAXBVMBGL-UHFFFAOYSA-N 0.000 description 1
201000007082 ABCD syndrome Diseases 0.000 description 1
239000005541 ACE inhibitor Substances 0.000 description 1
101150112998 ADIPOQ gene Proteins 0.000 description 1
101150012579 ADSL gene Proteins 0.000 description 1
201000007075 ADULT syndrome Diseases 0.000 description 1
201000007993 AGAT deficiency Diseases 0.000 description 1
RTRQQBHATOEIAF-UHFFFAOYSA-N AICA riboside Natural products NC1=C(C(=O)N)N=CN1C1C(O)C(O)C(CO)O1 RTRQQBHATOEIAF-UHFFFAOYSA-N 0.000 description 1
208000013749 AICA-ribosiduria Diseases 0.000 description 1
102100032898 AMP deaminase 3 Human genes 0.000 description 1
101150096655 APM1 gene Proteins 0.000 description 1
201000008686 ARC syndrome Diseases 0.000 description 1
102100033056 ATP-sensitive inward rectifier potassium channel 1 Human genes 0.000 description 1
208000002618 Aarskog syndrome Diseases 0.000 description 1
208000033745 Aarskog-Scott syndrome Diseases 0.000 description 1
206010000349 Acanthosis Diseases 0.000 description 1
208000033764 Acatalasemia Diseases 0.000 description 1
102100037768 Acetyl-CoA acetyltransferase, mitochondrial Human genes 0.000 description 1
102100033639 Acetylcholinesterase Human genes 0.000 description 1
208000007958 Acheiropodia Diseases 0.000 description 1
208000034012 Acid sphingomyelinase deficiency Diseases 0.000 description 1
201000010143 Acromesomelic dysplasia, Grebe type Diseases 0.000 description 1
102000002735 Acyl-CoA Dehydrogenase Human genes 0.000 description 1
108010001058 Acyl-CoA Dehydrogenase Proteins 0.000 description 1
206010001233 Adenoma benign Diseases 0.000 description 1
102000055025 Adenosine deaminases Human genes 0.000 description 1
208000002016 Adenosine monophosphate deaminase deficiency Diseases 0.000 description 1
108700037034 Adenylosuccinate lyase deficiency Proteins 0.000 description 1
208000006468 Adrenal Cortex Neoplasms Diseases 0.000 description 1
208000006696 Adrenocorticotropic hormone deficiency Diseases 0.000 description 1
208000018126 Adrenomyeloneuropathy Diseases 0.000 description 1
208000005748 Aggressive Fibromatosis Diseases 0.000 description 1
102100030233 Agmatinase, mitochondrial Human genes 0.000 description 1
201000011374 Alagille syndrome Diseases 0.000 description 1
206010001598 Alcohol intolerance Diseases 0.000 description 1
PQSUYGKTWSAVDQ-ZVIOFETBSA-N Aldosterone Chemical compound C([C@@]1([C@@H](C(=O)CO)CC[C@H]1[C@@H]1CC2)C=O)[C@H](O)[C@@H]1[C@]1(C)C2=CC(=O)CC1 PQSUYGKTWSAVDQ-ZVIOFETBSA-N 0.000 description 1
PQSUYGKTWSAVDQ-UHFFFAOYSA-N Aldosterone Natural products C1CC2C3CCC(C(=O)CO)C3(C=O)CC(O)C2C2(C)C1=CC(=O)CC2 PQSUYGKTWSAVDQ-UHFFFAOYSA-N 0.000 description 1
208000006829 Allan-Herndon-Dudley syndrome Diseases 0.000 description 1
206010001767 Alopecia universalis Diseases 0.000 description 1
208000023434 Alpers-Huttenlocher syndrome Diseases 0.000 description 1
102100024296 Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase Human genes 0.000 description 1
102100033312 Alpha-2-macroglobulin Human genes 0.000 description 1
108700033847 Alpha-Methylacyl-CoA Racemase Deficiency Proteins 0.000 description 1
101710115089 Alpha-actinin-3 Proteins 0.000 description 1
102100040410 Alpha-methylacyl-CoA racemase Human genes 0.000 description 1
108010044434 Alpha-methylacyl-CoA racemase Proteins 0.000 description 1
206010068783 Alstroem syndrome Diseases 0.000 description 1
208000021563 Alzheimer disease 1 Diseases 0.000 description 1
208000022099 Alzheimer disease 2 Diseases 0.000 description 1
208000026833 Alzheimer disease 4 Diseases 0.000 description 1
108700039458 Amish Infantile Epilepsy Syndrome Proteins 0.000 description 1
208000003808 Amyloid Neuropathies Diseases 0.000 description 1
102000002659 Amyloid Precursor Protein Secretases Human genes 0.000 description 1
108010043324 Amyloid Precursor Protein Secretases Proteins 0.000 description 1
206010002329 Aneurysm Diseases 0.000 description 1
208000028185 Angioedema Diseases 0.000 description 1
208000003120 Angiofibroma Diseases 0.000 description 1
208000001454 Anhidrotic Ectodermal Dysplasia 1 Diseases 0.000 description 1
208000009786 Anophthalmos Diseases 0.000 description 1
208000000103 Anorexia Nervosa Diseases 0.000 description 1
102100021253 Antileukoproteinase Human genes 0.000 description 1
101710163968 Antistasin Proteins 0.000 description 1
201000005657 Antithrombin III deficiency Diseases 0.000 description 1
102100022977 Antithrombin-III Human genes 0.000 description 1
208000003299 Antley-Bixler Syndrome Phenotype Diseases 0.000 description 1
201000005974 Antley-Bixler syndrome Diseases 0.000 description 1
208000019901 Anxiety disease Diseases 0.000 description 1
208000025490 Apert syndrome Diseases 0.000 description 1
108010087614 Apolipoprotein A-II Proteins 0.000 description 1
102100040202 Apolipoprotein B-100 Human genes 0.000 description 1
108010056301 Apolipoprotein C-III Proteins 0.000 description 1
108010025628 Apolipoproteins E Proteins 0.000 description 1
102000013918 Apolipoproteins E Human genes 0.000 description 1
102100027308 Apoptosis regulator BAX Human genes 0.000 description 1
206010003062 Apraxia Diseases 0.000 description 1
102000004363 Aquaporin 3 Human genes 0.000 description 1
108090000991 Aquaporin 3 Proteins 0.000 description 1
102100037332 Aquaporin-3 Human genes 0.000 description 1
101100496169 Arabidopsis thaliana CLH1 gene Proteins 0.000 description 1
101100441312 Arabidopsis thaliana CST gene Proteins 0.000 description 1
101100350718 Arabidopsis thaliana ELI5 gene Proteins 0.000 description 1
101100023996 Arabidopsis thaliana MOM1 gene Proteins 0.000 description 1
101100031652 Arabidopsis thaliana PTM gene Proteins 0.000 description 1
101001125931 Arabidopsis thaliana Plastidial pyruvate kinase 2 Proteins 0.000 description 1
101000981773 Arabidopsis thaliana Transcription factor MYB34 Proteins 0.000 description 1
206010063847 Arachnodactyly Diseases 0.000 description 1
101800001144 Arg-vasopressin Proteins 0.000 description 1
102100021723 Arginase-1 Human genes 0.000 description 1
108700009893 Arginine-Glycine Amidinotransferase Deficiency Proteins 0.000 description 1
208000034318 Argininemia Diseases 0.000 description 1
102100020999 Argininosuccinate synthase Human genes 0.000 description 1
108010078554 Aromatase Proteins 0.000 description 1
208000006508 Aromatase deficiency Diseases 0.000 description 1
108700019266 Aromatase deficiency Proteins 0.000 description 1
102100038238 Aromatic-L-amino-acid decarboxylase Human genes 0.000 description 1
208000002150 Arrhythmogenic Right Ventricular Dysplasia Diseases 0.000 description 1
201000006058 Arrhythmogenic right ventricular cardiomyopathy Diseases 0.000 description 1
200000000007 Arterial disease Diseases 0.000 description 1
208000003685 Arthrogryposis-renal dysfunction-cholestasis syndrome Diseases 0.000 description 1
208000036487 Arthropathies Diseases 0.000 description 1
108010074515 Arylalkylamine N-Acetyltransferase Proteins 0.000 description 1
102100031491 Arylsulfatase B Human genes 0.000 description 1
101710115247 Arylsulfatase B Proteins 0.000 description 1
102100032948 Aspartoacylase Human genes 0.000 description 1
206010068220 Aspartylglucosaminuria Diseases 0.000 description 1
206010003594 Ataxia telangiectasia Diseases 0.000 description 1
102000007372 Ataxin-1 Human genes 0.000 description 1
108010032963 Ataxin-1 Proteins 0.000 description 1
102000002785 Ataxin-10 Human genes 0.000 description 1
102100021321 Ataxin-3 Human genes 0.000 description 1
102000007368 Ataxin-7 Human genes 0.000 description 1
108010032953 Ataxin-7 Proteins 0.000 description 1
102000007370 Ataxin2 Human genes 0.000 description 1
108010032951 Ataxin2 Proteins 0.000 description 1
201000001320 Atherosclerosis Diseases 0.000 description 1
101150025446 Atn1 gene Proteins 0.000 description 1
206010003671 Atrioventricular Block Diseases 0.000 description 1
102100020741 Atrophin-1 Human genes 0.000 description 1
108090000806 Atrophin-1 Proteins 0.000 description 1
206010003694 Atrophy Diseases 0.000 description 1
208000006096 Attention Deficit Disorder with Hyperactivity Diseases 0.000 description 1
208000036864 Attention deficit/hyperactivity disease Diseases 0.000 description 1
101150070808 Atxn10 gene Proteins 0.000 description 1
208000031212 Autoimmune polyendocrinopathy Diseases 0.000 description 1
208000022715 Autoinflammatory syndrome Diseases 0.000 description 1
206010003840 Autonomic nervous system imbalance Diseases 0.000 description 1
208000020007 Autosomal agammaglobulinemia Diseases 0.000 description 1
208000035671 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 Diseases 0.000 description 1
208000035678 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 Diseases 0.000 description 1
208000035669 Autosomal dominant Charcot-Marie-Tooth disease type 2B Diseases 0.000 description 1
208000035665 Autosomal dominant Charcot-Marie-Tooth disease type 2D Diseases 0.000 description 1
208000035658 Autosomal dominant Charcot-Marie-Tooth disease type 2F Diseases 0.000 description 1
208000028514 Axenfeld anomaly Diseases 0.000 description 1
102100035683 Axin-2 Human genes 0.000 description 1
108700024832 B-Cell CLL-Lymphoma 10 Proteins 0.000 description 1
102100037598 B-cell lymphoma/leukemia 10 Human genes 0.000 description 1
208000028564 B-cell non-Hodgkin lymphoma Diseases 0.000 description 1
101150074953 BCL10 gene Proteins 0.000 description 1
201000007831 Bamforth-Lazarus syndrome Diseases 0.000 description 1
201000001321 Bardet-Biedl syndrome Diseases 0.000 description 1
201000009188 Bardet-Biedl syndrome 1 Diseases 0.000 description 1
201000009187 Bardet-Biedl syndrome 2 Diseases 0.000 description 1
102100027883 Bardet-Biedl syndrome 2 protein Human genes 0.000 description 1
102100027878 Bardet-Biedl syndrome 5 protein Human genes 0.000 description 1
201000009174 Bardet-Biedl syndrome 6 Diseases 0.000 description 1
201000009173 Bardet-Biedl syndrome 7 Diseases 0.000 description 1
201000007813 Bart-Pumphrey syndrome Diseases 0.000 description 1
201000009142 Bartter disease type 4a Diseases 0.000 description 1
102100032412 Basigin Human genes 0.000 description 1
201000007791 Beare-Stevenson cutis gyrata syndrome Diseases 0.000 description 1
206010004485 Berylliosis Diseases 0.000 description 1
229940121786 Beta 2 adrenoreceptor agonist Drugs 0.000 description 1
108700005324 Beta ketothiolase deficiency Proteins 0.000 description 1
102100030516 Beta-crystallin B1 Human genes 0.000 description 1
102100038326 Beta-defensin 4A Human genes 0.000 description 1
102100026189 Beta-galactosidase Human genes 0.000 description 1
102100025617 Beta-synuclein Human genes 0.000 description 1
206010069703 Bile acid malabsorption Diseases 0.000 description 1
102100026044 Biotinidase Human genes 0.000 description 1
208000020925 Bipolar disease Diseases 0.000 description 1
208000033929 Birt-Hogg-Dubé syndrome Diseases 0.000 description 1
208000009766 Blau syndrome Diseases 0.000 description 1
102100027058 Bleomycin hydrolase Human genes 0.000 description 1
108010025544 Bleomycin hydrolase Proteins 0.000 description 1
102100038341 Blood group Rh(CE) polypeptide Human genes 0.000 description 1
208000005692 Bloom Syndrome Diseases 0.000 description 1
108091009167 Bloom syndrome protein Proteins 0.000 description 1
102100027052 Bone morphogenetic protein receptor type-1B Human genes 0.000 description 1
208000022050 Bosley-Salih-Alorainy syndrome Diseases 0.000 description 1
201000007693 Bothnia retinal dystrophy Diseases 0.000 description 1
206010006049 Bovine Tuberculosis Diseases 0.000 description 1
201000007652 Brody myopathy Diseases 0.000 description 1
208000003304 Bruck syndrome 2 Diseases 0.000 description 1
206010059027 Brugada syndrome Diseases 0.000 description 1
201000000096 Brunner Syndrome Diseases 0.000 description 1
108700036915 Brunner Syndrome Proteins 0.000 description 1
208000011691 Burkitt lymphomas Diseases 0.000 description 1
208000003470 Buschke-Ollendorff syndrome Diseases 0.000 description 1
108010068197 Butyryl-CoA Dehydrogenase Proteins 0.000 description 1
108010053652 Butyrylcholinesterase Proteins 0.000 description 1
108700019257 Butyrylcholinesterase deficiency Proteins 0.000 description 1
101710098191 C-4 methylsterol oxidase ERG25 Proteins 0.000 description 1
208000013987 C1Q deficiency Diseases 0.000 description 1
108700033184 C9 Deficiency Proteins 0.000 description 1
108700033182 C9 Deficiency with Dermatomyositis Proteins 0.000 description 1
102100022361 CAAX prenyl protease 1 homolog Human genes 0.000 description 1
208000010482 CADASIL Diseases 0.000 description 1
102100034799 CCAAT/enhancer-binding protein delta Human genes 0.000 description 1
101150083327 CCR2 gene Proteins 0.000 description 1
206010064063 CHARGE syndrome Diseases 0.000 description 1
208000025480 CHILD syndrome Diseases 0.000 description 1
201000003274 CINCA syndrome Diseases 0.000 description 1
208000035545 CNGA3-related retinopathy Diseases 0.000 description 1
208000036875 CNGB3-related retinopathy Diseases 0.000 description 1
208000015488 COG7-CDG Diseases 0.000 description 1
101710156847 CTD small phosphatase-like protein Proteins 0.000 description 1
101150062345 CX3CR1 gene Proteins 0.000 description 1
101000943850 Caenorhabditis elegans Carbohydrate sulfotransferase chst-1 Proteins 0.000 description 1
101100436077 Caenorhabditis elegans asm-1 gene Proteins 0.000 description 1
101100497948 Caenorhabditis elegans cyn-1 gene Proteins 0.000 description 1
101100451537 Caenorhabditis elegans hsd-1 gene Proteins 0.000 description 1
208000027734 Caffey disease Diseases 0.000 description 1
102100025465 Calpain-10 Human genes 0.000 description 1
208000009903 Camurati-Engelmann Syndrome Diseases 0.000 description 1
208000013627 Camurati-Engelmann disease Diseases 0.000 description 1
208000022526 Canavan disease Diseases 0.000 description 1
101000841393 Candida albicans Probable NADPH dehydrogenase Proteins 0.000 description 1
101000809436 Candida albicans Sterol O-acyltransferase 2 Proteins 0.000 description 1
108090000447 Carbamoyl-phosphate synthase (ammonia) Proteins 0.000 description 1
102000037115 Carbamoyl-phosphate synthase (ammonia) Human genes 0.000 description 1
208000033910 Carbamoyl-phosphate synthetase 1 deficiency Diseases 0.000 description 1
108700017378 Carboxypeptidase N Deficiency Proteins 0.000 description 1
101710147840 Carboxypeptidase N catalytic chain Proteins 0.000 description 1
108010051527 Carnitine Acyltransferases Proteins 0.000 description 1
102000013658 Carnitine Acyltransferases Human genes 0.000 description 1
102100027943 Carnitine O-palmitoyltransferase 1, liver isoform Human genes 0.000 description 1
206010058892 Carnitine deficiency Diseases 0.000 description 1
208000004918 Cartilage-hair hypoplasia Diseases 0.000 description 1
102000011727 Caspases Human genes 0.000 description 1
108010076667 Caspases Proteins 0.000 description 1
102000016938 Catalase Human genes 0.000 description 1
108010053835 Catalase Proteins 0.000 description 1
108020002739 Catechol O-methyltransferase Proteins 0.000 description 1
102000006378 Catechol O-methyltransferase Human genes 0.000 description 1
102100028914 Catenin beta-1 Human genes 0.000 description 1
108091007854 Cdh1/Fizzy-related Proteins 0.000 description 1
102100034786 Cell migration-inducing and hyaluronan-binding protein Human genes 0.000 description 1
102100025175 Cellular communication network factor 6 Human genes 0.000 description 1
208000033221 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy Diseases 0.000 description 1
208000033935 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy Diseases 0.000 description 1
206010056467 Cerebral dysgenesis Diseases 0.000 description 1
101710163535 Ceroid-lipofuscinosis neuronal protein 5 Proteins 0.000 description 1
108010075016 Ceruloplasmin Proteins 0.000 description 1
102100023321 Ceruloplasmin Human genes 0.000 description 1
206010008342 Cervix carcinoma Diseases 0.000 description 1
201000004807 Char syndrome Diseases 0.000 description 1
201000009743 Charcot-Marie-Tooth disease X-linked dominant 1 Diseases 0.000 description 1
201000008959 Charcot-Marie-Tooth disease axonal type 2F Diseases 0.000 description 1
201000008988 Charcot-Marie-Tooth disease type 2A2 Diseases 0.000 description 1
201000008973 Charcot-Marie-Tooth disease type 2B Diseases 0.000 description 1
201000008958 Charcot-Marie-Tooth disease type 2D Diseases 0.000 description 1
201000009063 Charcot-Marie-Tooth disease type 4B1 Diseases 0.000 description 1
201000009061 Charcot-Marie-Tooth disease type 4F Diseases 0.000 description 1
208000001139 Cherubism Diseases 0.000 description 1
VEXZGXHMUGYJMC-UHFFFAOYSA-M Chloride anion Chemical compound [Cl-] VEXZGXHMUGYJMC-UHFFFAOYSA-M 0.000 description 1
102100023461 Chloride channel protein ClC-Ka Human genes 0.000 description 1
108700012841 Cholesteryl Ester Transfer Protein Deficiency Proteins 0.000 description 1
102100037637 Cholesteryl ester transfer protein Human genes 0.000 description 1
206010008748 Chorea Diseases 0.000 description 1
208000033895 Choreoacanthocytosis Diseases 0.000 description 1
206010008754 Choreoathetosis Diseases 0.000 description 1
208000033810 Choroidal dystrophy Diseases 0.000 description 1
102100038215 Chromodomain-helicase-DNA-binding protein 7 Human genes 0.000 description 1
208000005595 Chronic Idiopathic Jaundice Diseases 0.000 description 1
208000006545 Chronic Obstructive Pulmonary Disease Diseases 0.000 description 1
206010064568 Chronic infantile neurological cutaneous and articular syndrome Diseases 0.000 description 1
208000031879 Chédiak-Higashi syndrome Diseases 0.000 description 1
201000000304 Cleidocranial dysplasia Diseases 0.000 description 1
102000003780 Clusterin Human genes 0.000 description 1
108090000197 Clusterin Proteins 0.000 description 1
208000021089 Coats disease Diseases 0.000 description 1
102100024484 Codanin-1 Human genes 0.000 description 1
208000001353 Coffin-Lowry syndrome Diseases 0.000 description 1
208000008020 Cohen syndrome Diseases 0.000 description 1
102100029136 Collagen alpha-1(II) chain Human genes 0.000 description 1
102100031611 Collagen alpha-1(III) chain Human genes 0.000 description 1
102100031519 Collagen alpha-1(VI) chain Human genes 0.000 description 1
102100031518 Collagen alpha-2(VI) chain Human genes 0.000 description 1
102100033780 Collagen alpha-3(IV) chain Human genes 0.000 description 1
102100024338 Collagen alpha-3(VI) chain Human genes 0.000 description 1
102100033779 Collagen alpha-4(IV) chain Human genes 0.000 description 1
102400000303 Collagen-like Alzheimer amyloid plaque component Human genes 0.000 description 1
101800001122 Collagen-like Alzheimer amyloid plaque component Proteins 0.000 description 1
206010048832 Colon adenoma Diseases 0.000 description 1
102100032778 Colorectal mutant cancer protein Human genes 0.000 description 1
101710190564 Colorectal mutant cancer protein Proteins 0.000 description 1
208000016046 Combined deficiency of factor V and factor VIII Diseases 0.000 description 1
108700040183 Complement C1 Inhibitor Proteins 0.000 description 1
102100037077 Complement C1q subcomponent subunit A Human genes 0.000 description 1
102100037085 Complement C1q subcomponent subunit B Human genes 0.000 description 1
102100025849 Complement C1q subcomponent subunit C Human genes 0.000 description 1
102100025406 Complement C1s subcomponent Human genes 0.000 description 1
102100033777 Complement C4-B Human genes 0.000 description 1
108090000044 Complement Factor I Proteins 0.000 description 1
102100040491 Complement component C8 beta chain Human genes 0.000 description 1
102100035431 Complement factor I Human genes 0.000 description 1
102100030886 Complement receptor type 1 Human genes 0.000 description 1
101710137249 Complexin-1 Proteins 0.000 description 1
102100027826 Complexin-1 Human genes 0.000 description 1
208000002330 Congenital Heart Defects Diseases 0.000 description 1
108700037009 Congenital atransferrinemia Proteins 0.000 description 1
208000033131 Congenital factor II deficiency Diseases 0.000 description 1
206010056370 Congestive cardiomyopathy Diseases 0.000 description 1
206010010741 Conjunctivitis Diseases 0.000 description 1
102100037299 Conserved oligomeric Golgi complex subunit 7 Human genes 0.000 description 1
206010010904 Convulsion Diseases 0.000 description 1
102100041019 Coordinator of PRMT5 and differentiation stimulator Human genes 0.000 description 1
108010022637 Copper-Transporting ATPases Proteins 0.000 description 1
208000006069 Corneal Opacity Diseases 0.000 description 1
201000009343 Cornelia de Lange syndrome Diseases 0.000 description 1
208000003890 Coronary Vasospasm Diseases 0.000 description 1
208000035218 Cortical Congenital Hyperostosis Diseases 0.000 description 1
244000293323 Cosmos caudatus Species 0.000 description 1
206010067380 Costello Syndrome Diseases 0.000 description 1
208000012609 Cowden disease Diseases 0.000 description 1
201000002847 Cowden syndrome Diseases 0.000 description 1
208000002970 Coxa Vara Diseases 0.000 description 1
208000009283 Craniosynostoses Diseases 0.000 description 1
206010049889 Craniosynostosis Diseases 0.000 description 1
102100025522 Cullin-7 Human genes 0.000 description 1
208000015909 Currarino syndrome Diseases 0.000 description 1
208000037461 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome Diseases 0.000 description 1
101710181119 Cyclic nucleotide-gated cation channel alpha-3 Proteins 0.000 description 1
108010009392 Cyclin-Dependent Kinase Inhibitor p16 Proteins 0.000 description 1
102100024458 Cyclin-dependent kinase inhibitor 2A Human genes 0.000 description 1
102100035429 Cystathionine gamma-lyase Human genes 0.000 description 1
102100026897 Cystatin-C Human genes 0.000 description 1
201000003883 Cystic fibrosis Diseases 0.000 description 1
102100022028 Cytochrome P450 4V2 Human genes 0.000 description 1
208000002155 Cytochrome-c Oxidase Deficiency Diseases 0.000 description 1
102100039498 Cytotoxic T-lymphocyte protein 4 Human genes 0.000 description 1
102100020756 D(2) dopamine receptor Human genes 0.000 description 1
102100029815 D(4) dopamine receptor Human genes 0.000 description 1
102100025481 D-2-hydroxyglutarate dehydrogenase, mitochondrial Human genes 0.000 description 1
201000006762 D-2-hydroxyglutaric aciduria Diseases 0.000 description 1
102100039693 D-amino acid oxidase activator Human genes 0.000 description 1
101710109646 D-amino acid oxidase activator Proteins 0.000 description 1
WQZGKKKJIJFFOK-QTVWNMPRSA-N D-mannopyranose Chemical compound OC[C@H]1OC(O)[C@@H](O)[C@@H](O)[C@@H]1O WQZGKKKJIJFFOK-QTVWNMPRSA-N 0.000 description 1
108010060248 DNA Ligase ATP Proteins 0.000 description 1
102000003915 DNA Topoisomerases Human genes 0.000 description 1
108090000323 DNA Topoisomerases Proteins 0.000 description 1
108010035476 DNA excision repair protein ERCC-5 Proteins 0.000 description 1
102100034490 DNA repair and recombination protein RAD54B Human genes 0.000 description 1
102100027829 DNA repair protein XRCC3 Human genes 0.000 description 1
102100024607 DNA topoisomerase 1 Human genes 0.000 description 1
101710128527 DNA-directed RNA polymerase subunit alpha Proteins 0.000 description 1
101710112941 DNA-directed RNA polymerase subunit beta Proteins 0.000 description 1
101710126019 DNA-directed RNA polymerase subunit beta C-terminal section Proteins 0.000 description 1
101710122417 DNA-directed RNA polymerase subunit beta N-terminal section Proteins 0.000 description 1
101710185074 DNA-directed RNA polymerase subunit beta' Proteins 0.000 description 1
101710135457 DNA-directed RNA polymerase subunit beta'' Proteins 0.000 description 1
101150049660 DRD2 gene Proteins 0.000 description 1
101150048154 DVL2 gene Proteins 0.000 description 1
101100193633 Danio rerio rag2 gene Proteins 0.000 description 1
208000003471 De Lange Syndrome Diseases 0.000 description 1
208000003323 De Sanctis-Cacchione syndrome Diseases 0.000 description 1
101710088194 Dehydrogenase Proteins 0.000 description 1
208000031972 Dejerine-Sottas syndrome Diseases 0.000 description 1
208000001490 Dengue Diseases 0.000 description 1
206010012310 Dengue fever Diseases 0.000 description 1
208000005335 Dentin Dysplasia Diseases 0.000 description 1
206010070179 Denys-Drash syndrome Diseases 0.000 description 1
108010008532 Deoxyribonuclease I Proteins 0.000 description 1
102000007260 Deoxyribonuclease I Human genes 0.000 description 1
208000008334 Dermatofibrosarcoma Diseases 0.000 description 1
206010057070 Dermatofibrosarcoma protuberans Diseases 0.000 description 1
206010056878 Dermatofibrosis lenticularis disseminata Diseases 0.000 description 1
102100036912 Desmin Human genes 0.000 description 1
108010044052 Desmin Proteins 0.000 description 1
206010059352 Desmoid tumour Diseases 0.000 description 1
208000007342 Diabetic Nephropathies Diseases 0.000 description 1
206010012689 Diabetic retinopathy Diseases 0.000 description 1
206010012735 Diarrhoea Diseases 0.000 description 1
101100008579 Dictyostelium discoideum ampA gene Proteins 0.000 description 1
101100162826 Dictyostelium discoideum apm2 gene Proteins 0.000 description 1
101100127296 Dictyostelium discoideum kif1 gene Proteins 0.000 description 1
101100226017 Dictyostelium discoideum repD gene Proteins 0.000 description 1
208000004986 Diffuse Cerebral Sclerosis of Schilder Diseases 0.000 description 1
102100036238 Dihydropyrimidinase Human genes 0.000 description 1
201000010385 Dihydropyrimidine Dehydrogenase Deficiency Diseases 0.000 description 1
201000010046 Dilated cardiomyopathy Diseases 0.000 description 1
102100025177 Dimethylglycine dehydrogenase, mitochondrial Human genes 0.000 description 1
102100020743 Dipeptidase 1 Human genes 0.000 description 1
102100022273 Disrupted in schizophrenia 1 protein Human genes 0.000 description 1
101710118116 Disrupted in schizophrenia 1 protein Proteins 0.000 description 1
102100032339 Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase Human genes 0.000 description 1
102100032086 Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase Human genes 0.000 description 1
208000002603 Dopa-responsive dystonia Diseases 0.000 description 1
108010015720 Dopamine beta-Hydroxylase Proteins 0.000 description 1
102100033996 Double-strand break repair protein MRE11 Human genes 0.000 description 1
101710093299 Double-stranded RNA-specific adenosine deaminase Proteins 0.000 description 1
201000010374 Down Syndrome Diseases 0.000 description 1
101150097070 Drd3 gene Proteins 0.000 description 1
101150043870 Drd4 gene Proteins 0.000 description 1
101000708615 Drosophila melanogaster Protein smoothened Proteins 0.000 description 1
101100171231 Drosophila melanogaster dsh gene Proteins 0.000 description 1
201000000913 Duane retraction syndrome Diseases 0.000 description 1
201000001355 Duane-radial ray syndrome Diseases 0.000 description 1
201000004943 Dubin-Johnson syndrome Diseases 0.000 description 1
208000013805 Dyggve-Melchior-Clausen disease Diseases 0.000 description 1
102100036654 Dynactin subunit 1 Human genes 0.000 description 1
108010044191 Dynamin II Proteins 0.000 description 1
102100021238 Dynamin-2 Human genes 0.000 description 1
102100032233 Dynein axonemal assembly factor 4 Human genes 0.000 description 1
102000005611 Dysbindin Human genes 0.000 description 1
108010045061 Dysbindin Proteins 0.000 description 1
201000002994 Dyschromatosis symmetrica hereditaria Diseases 0.000 description 1
102100025709 Dyslexia-associated protein KIAA0319 Human genes 0.000 description 1
206010066054 Dysmorphism Diseases 0.000 description 1
108700011636 Dystransthyretinemic Euthyroidal Hyperthyroxinemia Proteins 0.000 description 1
102000012199 E3 ubiquitin-protein ligase Mdm2 Human genes 0.000 description 1
108050002772 E3 ubiquitin-protein ligase Mdm2 Proteins 0.000 description 1
102100031438 E3 ubiquitin-protein ligase RING1 Human genes 0.000 description 1
101150031037 EDARADD gene Proteins 0.000 description 1
102000001301 EGF receptor Human genes 0.000 description 1
108060006698 EGF receptor Proteins 0.000 description 1
101150105460 ERCC2 gene Proteins 0.000 description 1
102100030809 Ectodysplasin-A receptor-associated adapter protein Human genes 0.000 description 1
208000008288 Ectopia Lentis Diseases 0.000 description 1
208000002197 Ehlers-Danlos syndrome Diseases 0.000 description 1
102000016942 Elastin Human genes 0.000 description 1
108010014258 Elastin Proteins 0.000 description 1
206010014567 Empty Sella Syndrome Diseases 0.000 description 1
101710194572 Endothelin receptor type B Proteins 0.000 description 1
102100029109 Endothelin-3 Human genes 0.000 description 1
108010044099 Ephrin-B1 Proteins 0.000 description 1
101710100588 Erythroid transcription factor Proteins 0.000 description 1
101100534316 Escherichia phage T5 D11 gene Proteins 0.000 description 1
208000000289 Esophageal Achalasia Diseases 0.000 description 1
108060002716 Exonuclease Proteins 0.000 description 1
102100029055 Exostosin-1 Human genes 0.000 description 1
101710191461 F420-dependent glucose-6-phosphate dehydrogenase Proteins 0.000 description 1
108091008794 FGF receptors Proteins 0.000 description 1
206010067141 Faciodigitogenital dysplasia Diseases 0.000 description 1
201000006107 Familial adenomatous polyposis Diseases 0.000 description 1
208000009872 Familial advanced sleep-phase syndrome Diseases 0.000 description 1
208000037312 Familial drusen Diseases 0.000 description 1
102100029111 Fatty-acid amide hydrolase 1 Human genes 0.000 description 1
241000282324 Felis Species 0.000 description 1
102100031510 Fibrillin-2 Human genes 0.000 description 1
102100024783 Fibrinogen gamma chain Human genes 0.000 description 1
102100028412 Fibroblast growth factor 10 Human genes 0.000 description 1
102100024802 Fibroblast growth factor 23 Human genes 0.000 description 1
102100027844 Fibroblast growth factor receptor 4 Human genes 0.000 description 1
206010070535 Fibrous dysplasia of jaw Diseases 0.000 description 1
102100026559 Filamin-B Human genes 0.000 description 1
208000005417 Fleck corneal dystrophy Diseases 0.000 description 1
101710164820 Flotillin-2 Proteins 0.000 description 1
206010061159 Foot deformity Diseases 0.000 description 1
208000001914 Fragile X syndrome Diseases 0.000 description 1
102000003869 Frataxin Human genes 0.000 description 1
108090000217 Frataxin Proteins 0.000 description 1
108010068561 Fructose-Bisphosphate Aldolase Proteins 0.000 description 1
102000001390 Fructose-Bisphosphate Aldolase Human genes 0.000 description 1
102100022277 Fructose-bisphosphate aldolase A Human genes 0.000 description 1
208000033051 Fuchs endothelial corneal dystrophy Diseases 0.000 description 1
102000017696 GABRA1 Human genes 0.000 description 1
208000016863 GM3 synthase deficiency Diseases 0.000 description 1
101150021949 GRIN1 gene Proteins 0.000 description 1
102000001267 GSK3 Human genes 0.000 description 1
108060006662 GSK3 Proteins 0.000 description 1
102100027346 GTP cyclohydrolase 1 Human genes 0.000 description 1
101710094136 GTP cyclohydrolase 1 Proteins 0.000 description 1
102100039788 GTPase NRas Human genes 0.000 description 1
102100039835 Galactoside alpha-(1,2)-fucosyltransferase 1 Human genes 0.000 description 1
102100040837 Galactoside alpha-(1,2)-fucosyltransferase 2 Human genes 0.000 description 1
108090001064 Gelsolin Proteins 0.000 description 1
208000010412 Glaucoma Diseases 0.000 description 1
102000053171 Glial Fibrillary Acidic Human genes 0.000 description 1
102000034615 Glial cell line-derived neurotrophic factor Human genes 0.000 description 1
108091010837 Glial cell line-derived neurotrophic factor Proteins 0.000 description 1
101710193519 Glial fibrillary acidic protein Proteins 0.000 description 1
208000032612 Glial tumor Diseases 0.000 description 1
206010018338 Glioma Diseases 0.000 description 1
102100040890 Glucagon receptor Human genes 0.000 description 1
102000003676 Glucocorticoid Receptors Human genes 0.000 description 1
108090000079 Glucocorticoid Receptors Proteins 0.000 description 1
108010050375 Glucose 1-Dehydrogenase Proteins 0.000 description 1
102100030651 Glutamate receptor 2 Human genes 0.000 description 1
102100030395 Glycerol-3-phosphate dehydrogenase, mitochondrial Human genes 0.000 description 1
102100036589 Glycine-tRNA ligase Human genes 0.000 description 1
102100036430 Glycophorin-B Human genes 0.000 description 1
102100038923 Glycoprotein Xg Human genes 0.000 description 1
101710138159 Glycoprotein Xg Proteins 0.000 description 1
102100040896 Growth/differentiation factor 15 Human genes 0.000 description 1
102100031618 HLA class II histocompatibility antigen, DP beta 1 chain Human genes 0.000 description 1
102100036241 HLA class II histocompatibility antigen, DQ beta 1 chain Human genes 0.000 description 1
108010045483 HLA-DPB1 antigen Proteins 0.000 description 1
108010065026 HLA-DQB1 antigen Proteins 0.000 description 1
101150088682 HMT-1 gene Proteins 0.000 description 1
108010045100 HSP27 Heat-Shock Proteins Proteins 0.000 description 1
101150050738 HTR1B gene Proteins 0.000 description 1
208000025309 Hair disease Diseases 0.000 description 1
206010019043 Hair follicle tumour benign Diseases 0.000 description 1
208000032843 Hemorrhage Diseases 0.000 description 1
108010007712 Hepatitis A Virus Cellular Receptor 1 Proteins 0.000 description 1
102100022123 Hepatocyte nuclear factor 1-beta Human genes 0.000 description 1
206010067265 Heterotaxia Diseases 0.000 description 1
208000002128 Heterotaxy Syndrome Diseases 0.000 description 1
102100029237 Hexokinase-4 Human genes 0.000 description 1
102100038009 High affinity immunoglobulin epsilon receptor subunit beta Human genes 0.000 description 1
208000004592 Hirschsprung disease Diseases 0.000 description 1
102100029076 Histamine N-methyltransferase Human genes 0.000 description 1
102100027619 Histidine-rich glycoprotein Human genes 0.000 description 1
102100038885 Histone acetyltransferase p300 Human genes 0.000 description 1
102100022377 Homeobox protein DLX-2 Human genes 0.000 description 1
102100022376 Homeobox protein DLX-3 Human genes 0.000 description 1
101001025044 Homo sapiens 1-phosphatidylinositol 3-phosphate 5-kinase Proteins 0.000 description 1
101000761592 Homo sapiens 3 beta-hydroxysteroid dehydrogenase type 7 Proteins 0.000 description 1
101000893701 Homo sapiens 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase FUT3 Proteins 0.000 description 1
101001035740 Homo sapiens 3-hydroxyacyl-CoA dehydrogenase type-2 Proteins 0.000 description 1
101001000686 Homo sapiens 4-aminobutyrate aminotransferase, mitochondrial Proteins 0.000 description 1
101000694288 Homo sapiens 40S ribosomal protein SA Proteins 0.000 description 1
101100388221 Homo sapiens ADAR gene Proteins 0.000 description 1
101100490834 Homo sapiens ALG1 gene Proteins 0.000 description 1
101100378962 Homo sapiens AMELX gene Proteins 0.000 description 1
101000797462 Homo sapiens AMP deaminase 3 Proteins 0.000 description 1
101100110056 Homo sapiens ASPSCR1 gene Proteins 0.000 description 1
101100217483 Homo sapiens ATCAY gene Proteins 0.000 description 1
101001017818 Homo sapiens ATP-dependent translocase ABCB1 Proteins 0.000 description 1
101100263407 Homo sapiens AVPR2 gene Proteins 0.000 description 1
101000598552 Homo sapiens Acetyl-CoA acetyltransferase, mitochondrial Proteins 0.000 description 1
101000756632 Homo sapiens Actin, cytoplasmic 1 Proteins 0.000 description 1
101000775469 Homo sapiens Adiponectin Proteins 0.000 description 1
101000574440 Homo sapiens Alkaline phosphatase, germ cell type Proteins 0.000 description 1
101000891547 Homo sapiens Alpha-1,3/1,6-mannosyltransferase ALG2 Proteins 0.000 description 1
101000797292 Homo sapiens Alpha-actinin-3 Proteins 0.000 description 1
101000795762 Homo sapiens Alpha-tocopherol transfer protein Proteins 0.000 description 1
101000924727 Homo sapiens Alternative prion protein Proteins 0.000 description 1
101000652582 Homo sapiens Antigen peptide transporter 2 Proteins 0.000 description 1
101000615334 Homo sapiens Antileukoproteinase Proteins 0.000 description 1
101000793406 Homo sapiens Apolipoprotein A-II Proteins 0.000 description 1
101000889953 Homo sapiens Apolipoprotein B-100 Proteins 0.000 description 1
101000793223 Homo sapiens Apolipoprotein C-III Proteins 0.000 description 1
101000806690 Homo sapiens Aquaporin-3 Proteins 0.000 description 1
101000752037 Homo sapiens Arginase-1 Proteins 0.000 description 1
101000784014 Homo sapiens Argininosuccinate synthase Proteins 0.000 description 1
101000895100 Homo sapiens Ataxin-3 Proteins 0.000 description 1
101000874569 Homo sapiens Axin-2 Proteins 0.000 description 1
101000697700 Homo sapiens Bardet-Biedl syndrome 2 protein Proteins 0.000 description 1
101000697666 Homo sapiens Bardet-Biedl syndrome 5 protein Proteins 0.000 description 1
101001000001 Homo sapiens Basement membrane-specific heparan sulfate proteoglycan core protein Proteins 0.000 description 1
101000798441 Homo sapiens Basigin Proteins 0.000 description 1
101000793425 Homo sapiens Beta-2-glycoprotein 1 Proteins 0.000 description 1
101000919505 Homo sapiens Beta-crystallin B1 Proteins 0.000 description 1
101000884714 Homo sapiens Beta-defensin 4A Proteins 0.000 description 1
101000765010 Homo sapiens Beta-galactosidase Proteins 0.000 description 1
101000787265 Homo sapiens Beta-synuclein Proteins 0.000 description 1
101000984541 Homo sapiens Bleomycin hydrolase Proteins 0.000 description 1
101000666610 Homo sapiens Blood group Rh(CE) polypeptide Proteins 0.000 description 1
101000984546 Homo sapiens Bone morphogenetic protein receptor type-1B Proteins 0.000 description 1
101000934858 Homo sapiens Breast cancer type 2 susceptibility protein Proteins 0.000 description 1
101000889048 Homo sapiens C-X-C motif chemokine 17 Proteins 0.000 description 1
101000824531 Homo sapiens CAAX prenyl protease 1 homolog Proteins 0.000 description 1
101100006561 Homo sapiens CLCN5 gene Proteins 0.000 description 1
101100007625 Homo sapiens CR1 gene Proteins 0.000 description 1
101000984015 Homo sapiens Cadherin-1 Proteins 0.000 description 1
101000943456 Homo sapiens Calcium and integrin-binding family member 2 Proteins 0.000 description 1
101000984149 Homo sapiens Calpain-10 Proteins 0.000 description 1
101000859570 Homo sapiens Carnitine O-palmitoyltransferase 1, liver isoform Proteins 0.000 description 1
101000916173 Homo sapiens Catenin beta-1 Proteins 0.000 description 1
101000945881 Homo sapiens Cell migration-inducing and hyaluronan-binding protein Proteins 0.000 description 1
101000934310 Homo sapiens Cellular communication network factor 6 Proteins 0.000 description 1
101000879661 Homo sapiens Chitotriosidase-1 Proteins 0.000 description 1
101000906658 Homo sapiens Chloride channel protein ClC-Ka Proteins 0.000 description 1
101000880514 Homo sapiens Cholesteryl ester transfer protein Proteins 0.000 description 1
101000943274 Homo sapiens Cholinesterase Proteins 0.000 description 1
101000883739 Homo sapiens Chromodomain-helicase-DNA-binding protein 7 Proteins 0.000 description 1
101000980888 Homo sapiens Codanin-1 Proteins 0.000 description 1
101000771163 Homo sapiens Collagen alpha-1(II) chain Proteins 0.000 description 1
101000993285 Homo sapiens Collagen alpha-1(III) chain Proteins 0.000 description 1
101000941581 Homo sapiens Collagen alpha-1(VI) chain Proteins 0.000 description 1
101000941585 Homo sapiens Collagen alpha-2(VI) chain Proteins 0.000 description 1
101000710873 Homo sapiens Collagen alpha-3(IV) chain Proteins 0.000 description 1
101000909506 Homo sapiens Collagen alpha-3(VI) chain Proteins 0.000 description 1
101000710870 Homo sapiens Collagen alpha-4(IV) chain Proteins 0.000 description 1
101000740726 Homo sapiens Complement C1q subcomponent subunit A Proteins 0.000 description 1
101000740680 Homo sapiens Complement C1q subcomponent subunit B Proteins 0.000 description 1
101000933636 Homo sapiens Complement C1q subcomponent subunit C Proteins 0.000 description 1
101000934958 Homo sapiens Complement C1s subcomponent Proteins 0.000 description 1
101000749895 Homo sapiens Complement component C8 beta chain Proteins 0.000 description 1
101000953009 Homo sapiens Conserved oligomeric Golgi complex subunit 7 Proteins 0.000 description 1
101000748895 Homo sapiens Coordinator of PRMT5 and differentiation stimulator Proteins 0.000 description 1
101000941754 Homo sapiens Copine-1 Proteins 0.000 description 1
101000936277 Homo sapiens Copper-transporting ATPase 1 Proteins 0.000 description 1
101000856425 Homo sapiens Cullin-7 Proteins 0.000 description 1
101000737584 Homo sapiens Cystathionine gamma-lyase Proteins 0.000 description 1
101000912205 Homo sapiens Cystatin-C Proteins 0.000 description 1
101000896951 Homo sapiens Cytochrome P450 4V2 Proteins 0.000 description 1
101000856695 Homo sapiens Cytochrome b-245 heavy chain Proteins 0.000 description 1
101000889276 Homo sapiens Cytotoxic T-lymphocyte protein 4 Proteins 0.000 description 1
101000931901 Homo sapiens D(2) dopamine receptor Proteins 0.000 description 1
101000865206 Homo sapiens D(4) dopamine receptor Proteins 0.000 description 1
101000856084 Homo sapiens D-2-hydroxyglutarate dehydrogenase, mitochondrial Proteins 0.000 description 1
101100063489 Homo sapiens DLG5 gene Proteins 0.000 description 1
101000863770 Homo sapiens DNA ligase 1 Proteins 0.000 description 1
101001132263 Homo sapiens DNA repair and recombination protein RAD54B Proteins 0.000 description 1
101000736065 Homo sapiens DNA replication complex GINS protein PSF2 Proteins 0.000 description 1
101000830681 Homo sapiens DNA topoisomerase 1 Proteins 0.000 description 1
101000801505 Homo sapiens DNA topoisomerase 2-alpha Proteins 0.000 description 1
101000930818 Homo sapiens Dihydropyrimidinase Proteins 0.000 description 1
101001005618 Homo sapiens Dimethylglycine dehydrogenase, mitochondrial Proteins 0.000 description 1
101000797862 Homo sapiens Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase Proteins 0.000 description 1
101000776319 Homo sapiens Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase Proteins 0.000 description 1
101000865408 Homo sapiens Double-stranded RNA-specific adenosine deaminase Proteins 0.000 description 1
101000929626 Homo sapiens Dynactin subunit 1 Proteins 0.000 description 1
101000869199 Homo sapiens Dynein axonemal assembly factor 4 Proteins 0.000 description 1
101000707962 Homo sapiens E3 ubiquitin-protein ligase RING1 Proteins 0.000 description 1
101000840938 Homo sapiens EF-hand domain-containing protein 1 Proteins 0.000 description 1
101001048716 Homo sapiens ETS domain-containing protein Elk-4 Proteins 0.000 description 1
101001024566 Homo sapiens Ecto-ADP-ribosyltransferase 4 Proteins 0.000 description 1
101000967299 Homo sapiens Endothelin receptor type B Proteins 0.000 description 1
101000841213 Homo sapiens Endothelin-3 Proteins 0.000 description 1
101000918311 Homo sapiens Exostosin-1 Proteins 0.000 description 1
101001031750 Homo sapiens FYVE, RhoGEF and PH domain-containing protein 1 Proteins 0.000 description 1
101000846890 Homo sapiens Fibrillin-2 Proteins 0.000 description 1
101000917237 Homo sapiens Fibroblast growth factor 10 Proteins 0.000 description 1
101001051973 Homo sapiens Fibroblast growth factor 23 Proteins 0.000 description 1
101000917134 Homo sapiens Fibroblast growth factor receptor 4 Proteins 0.000 description 1
101001027128 Homo sapiens Fibronectin Proteins 0.000 description 1
101000913551 Homo sapiens Filamin-B Proteins 0.000 description 1
101000755879 Homo sapiens Fructose-bisphosphate aldolase A Proteins 0.000 description 1
101000980756 Homo sapiens G1/S-specific cyclin-D1 Proteins 0.000 description 1
101001022159 Homo sapiens GDP-fucose transporter 1 Proteins 0.000 description 1
101100276172 Homo sapiens GJB1 gene Proteins 0.000 description 1
101000744505 Homo sapiens GTPase NRas Proteins 0.000 description 1
101000885616 Homo sapiens Galactoside alpha-(1,2)-fucosyltransferase 1 Proteins 0.000 description 1
101000893710 Homo sapiens Galactoside alpha-(1,2)-fucosyltransferase 2 Proteins 0.000 description 1
101001059150 Homo sapiens Gelsolin Proteins 0.000 description 1
101000876511 Homo sapiens General transcription and DNA repair factor IIH helicase subunit XPD Proteins 0.000 description 1
101001040075 Homo sapiens Glucagon receptor Proteins 0.000 description 1
101001010449 Homo sapiens Glutamate receptor 2 Proteins 0.000 description 1
101001009678 Homo sapiens Glycerol-3-phosphate dehydrogenase, mitochondrial Proteins 0.000 description 1
101001072736 Homo sapiens Glycine-tRNA ligase Proteins 0.000 description 1
101000833785 Homo sapiens Glycophorin-E Proteins 0.000 description 1
101000893549 Homo sapiens Growth/differentiation factor 15 Proteins 0.000 description 1
101001021499 Homo sapiens HERV-H LTR-associating protein 1 Proteins 0.000 description 1
101100499217 Homo sapiens HSD11B1 gene Proteins 0.000 description 1
101001068136 Homo sapiens Hepatitis A virus cellular receptor 1 Proteins 0.000 description 1
101001045758 Homo sapiens Hepatocyte nuclear factor 1-beta Proteins 0.000 description 1
101000878594 Homo sapiens High affinity immunoglobulin epsilon receptor subunit beta Proteins 0.000 description 1
101000988655 Homo sapiens Histamine N-methyltransferase Proteins 0.000 description 1
101000882390 Homo sapiens Histone acetyltransferase p300 Proteins 0.000 description 1
101000901635 Homo sapiens Homeobox protein DLX-2 Proteins 0.000 description 1
101000901646 Homo sapiens Homeobox protein DLX-3 Proteins 0.000 description 1
101001083553 Homo sapiens Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial Proteins 0.000 description 1
101001002508 Homo sapiens Immunoglobulin-binding protein 1 Proteins 0.000 description 1
101001138523 Homo sapiens Inosine 5'-monophosphate cyclohydrolase Proteins 0.000 description 1
101000852815 Homo sapiens Insulin receptor Proteins 0.000 description 1
101000998783 Homo sapiens Insulin-like 3 Proteins 0.000 description 1
101000693844 Homo sapiens Insulin-like growth factor-binding protein complex acid labile subunit Proteins 0.000 description 1
101001001420 Homo sapiens Interferon gamma receptor 1 Proteins 0.000 description 1
101100453901 Homo sapiens KIF22 gene Proteins 0.000 description 1
101001091376 Homo sapiens Kallikrein-4 Proteins 0.000 description 1
101001046960 Homo sapiens Keratin, type II cytoskeletal 1 Proteins 0.000 description 1
101000652814 Homo sapiens Lactosylceramide alpha-2,3-sialyltransferase Proteins 0.000 description 1
101001004946 Homo sapiens Lactoylglutathione lyase Proteins 0.000 description 1
101001005166 Homo sapiens Lens fiber membrane intrinsic protein Proteins 0.000 description 1
101000619640 Homo sapiens Leucine-rich repeats and immunoglobulin-like domains protein 1 Proteins 0.000 description 1
101001044093 Homo sapiens Lipopolysaccharide-induced tumor necrosis factor-alpha factor Proteins 0.000 description 1
101000677545 Homo sapiens Long-chain specific acyl-CoA dehydrogenase, mitochondrial Proteins 0.000 description 1
101001004953 Homo sapiens Lysosomal acid lipase/cholesteryl ester hydrolase Proteins 0.000 description 1
101001018100 Homo sapiens Lysozyme C Proteins 0.000 description 1
101000615657 Homo sapiens MAM domain-containing glycosylphosphatidylinositol anchor protein 2 Proteins 0.000 description 1
101000573901 Homo sapiens Major prion protein Proteins 0.000 description 1
101000576989 Homo sapiens Mannose-P-dolichol utilization defect 1 protein Proteins 0.000 description 1
101001056128 Homo sapiens Mannose-binding protein C Proteins 0.000 description 1
101001019117 Homo sapiens Mediator of RNA polymerase II transcription subunit 23 Proteins 0.000 description 1
101000760730 Homo sapiens Medium-chain specific acyl-CoA dehydrogenase, mitochondrial Proteins 0.000 description 1
101000957437 Homo sapiens Mitochondrial carnitine/acylcarnitine carrier protein Proteins 0.000 description 1
101000794228 Homo sapiens Mitotic checkpoint serine/threonine-protein kinase BUB1 beta Proteins 0.000 description 1
101000615261 Homo sapiens Multiple coagulation factor deficiency protein 2 Proteins 0.000 description 1
101000958866 Homo sapiens Myogenic factor 6 Proteins 0.000 description 1
101000584208 Homo sapiens Myosin light chain kinase 2, skeletal/cardiac muscle Proteins 0.000 description 1
101001030228 Homo sapiens Myosin-8 Proteins 0.000 description 1
101001030184 Homo sapiens Myotilin Proteins 0.000 description 1
101000966872 Homo sapiens Myotubularin-related protein 2 Proteins 0.000 description 1
101001111195 Homo sapiens NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial Proteins 0.000 description 1
101000979243 Homo sapiens NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial Proteins 0.000 description 1
101000979288 Homo sapiens Negative elongation factor E Proteins 0.000 description 1
101001111338 Homo sapiens Neurofilament heavy polypeptide Proteins 0.000 description 1
101000577202 Homo sapiens Neurogenic locus notch homolog protein 3 Proteins 0.000 description 1
101001112229 Homo sapiens Neutrophil cytosol factor 1 Proteins 0.000 description 1
101001112224 Homo sapiens Neutrophil cytosol factor 2 Proteins 0.000 description 1
101001024120 Homo sapiens Nipped-B-like protein Proteins 0.000 description 1
101001103036 Homo sapiens Nuclear receptor ROR-alpha Proteins 0.000 description 1
101001109689 Homo sapiens Nuclear receptor subfamily 4 group A member 3 Proteins 0.000 description 1
101000992099 Homo sapiens Otoconin-90 Proteins 0.000 description 1
101000614405 Homo sapiens P2X purinoceptor 1 Proteins 0.000 description 1
101001098523 Homo sapiens PAX-interacting protein 1 Proteins 0.000 description 1
101000597273 Homo sapiens PHD finger protein 11 Proteins 0.000 description 1
101001074571 Homo sapiens PIN2/TERF1-interacting telomerase inhibitor 1 Proteins 0.000 description 1
101100216116 Homo sapiens PRMT2 gene Proteins 0.000 description 1
101000738523 Homo sapiens Pancreas transcription factor 1 subunit alpha Proteins 0.000 description 1
101000612089 Homo sapiens Pancreas/duodenum homeobox protein 1 Proteins 0.000 description 1
101000610206 Homo sapiens Pappalysin-1 Proteins 0.000 description 1
101001091194 Homo sapiens Peptidyl-prolyl cis-trans isomerase G Proteins 0.000 description 1
101000579352 Homo sapiens Peroxisomal membrane protein PEX13 Proteins 0.000 description 1
101001045218 Homo sapiens Peroxisomal multifunctional enzyme type 2 Proteins 0.000 description 1
101001116682 Homo sapiens Peroxisome assembly protein 26 Proteins 0.000 description 1
101001126498 Homo sapiens Peroxisome biogenesis factor 10 Proteins 0.000 description 1
101000583474 Homo sapiens Phosphatidylinositol-binding clathrin assembly protein Proteins 0.000 description 1
101001125939 Homo sapiens Plakophilin-1 Proteins 0.000 description 1
101000583179 Homo sapiens Plakophilin-2 Proteins 0.000 description 1
101000728125 Homo sapiens Plasma membrane calcium-transporting ATPase 2 Proteins 0.000 description 1
101000728117 Homo sapiens Plasma membrane calcium-transporting ATPase 4 Proteins 0.000 description 1
101001071312 Homo sapiens Platelet glycoprotein IX Proteins 0.000 description 1
101000730606 Homo sapiens Pleckstrin homology domain-containing family G member 2 Proteins 0.000 description 1
101000886179 Homo sapiens Polypeptide N-acetylgalactosaminyltransferase 3 Proteins 0.000 description 1
101000772905 Homo sapiens Polyubiquitin-B Proteins 0.000 description 1
101000717815 Homo sapiens Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase Proteins 0.000 description 1
101000595907 Homo sapiens Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 Proteins 0.000 description 1
101001092930 Homo sapiens Prosaposin Proteins 0.000 description 1
101001117305 Homo sapiens Prostaglandin D2 receptor Proteins 0.000 description 1
101000799554 Homo sapiens Protein AATF Proteins 0.000 description 1
101000979748 Homo sapiens Protein NDRG1 Proteins 0.000 description 1
101000863978 Homo sapiens Protein downstream neighbor of Son Proteins 0.000 description 1
101000742054 Homo sapiens Protein phosphatase 1D Proteins 0.000 description 1
101001093143 Homo sapiens Protein transport protein Sec61 subunit gamma Proteins 0.000 description 1
101000626165 Homo sapiens Putative tenascin-XA Proteins 0.000 description 1
101000912352 Homo sapiens Putative uncharacterized protein DANCR Proteins 0.000 description 1
101001091536 Homo sapiens Pyruvate kinase PKLR Proteins 0.000 description 1
101000798007 Homo sapiens RAC-gamma serine/threonine-protein kinase Proteins 0.000 description 1
101000738769 Homo sapiens Receptor-type tyrosine-protein phosphatase alpha Proteins 0.000 description 1
101000692878 Homo sapiens Regulator of MON1-CCZ1 complex Proteins 0.000 description 1
101001075466 Homo sapiens Regulatory factor X-associated protein Proteins 0.000 description 1
101000869654 Homo sapiens Relaxin receptor 2 Proteins 0.000 description 1
101000686909 Homo sapiens Resistin Proteins 0.000 description 1
101001078886 Homo sapiens Retinaldehyde-binding protein 1 Proteins 0.000 description 1
101000742859 Homo sapiens Retinoblastoma-associated protein Proteins 0.000 description 1
101001106322 Homo sapiens Rho GTPase-activating protein 7 Proteins 0.000 description 1
101000650588 Homo sapiens Roundabout homolog 3 Proteins 0.000 description 1
101000637699 Homo sapiens Ryanodine receptor 1 Proteins 0.000 description 1
101000650863 Homo sapiens SH2 domain-containing protein 1A Proteins 0.000 description 1
101000637795 Homo sapiens SH3 domain and tetratricopeptide repeat-containing protein 2 Proteins 0.000 description 1
101000616556 Homo sapiens SH3 domain-containing protein 19 Proteins 0.000 description 1
101000740178 Homo sapiens Sal-like protein 4 Proteins 0.000 description 1
101000936731 Homo sapiens Sarcoplasmic/endoplasmic reticulum calcium ATPase 1 Proteins 0.000 description 1
101000632056 Homo sapiens Septin-9 Proteins 0.000 description 1
101000904787 Homo sapiens Serine/threonine-protein kinase ATR Proteins 0.000 description 1
101000605835 Homo sapiens Serine/threonine-protein kinase PINK1, mitochondrial Proteins 0.000 description 1
101000652292 Homo sapiens Serotonin N-acetyltransferase Proteins 0.000 description 1
101000621061 Homo sapiens Serum paraoxonase/arylesterase 2 Proteins 0.000 description 1
101000760716 Homo sapiens Short-chain specific acyl-CoA dehydrogenase, mitochondrial Proteins 0.000 description 1
101000929936 Homo sapiens Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial Proteins 0.000 description 1
101000708614 Homo sapiens Smoothened homolog Proteins 0.000 description 1
101000684919 Homo sapiens Sodium- and chloride-dependent creatine transporter 1 Proteins 0.000 description 1
101000631929 Homo sapiens Sodium-dependent serotonin transporter Proteins 0.000 description 1
101000713288 Homo sapiens Solute carrier family 22 member 5 Proteins 0.000 description 1
101000829153 Homo sapiens Somatostatin receptor type 5 Proteins 0.000 description 1
101000868152 Homo sapiens Son of sevenless homolog 1 Proteins 0.000 description 1
101000881247 Homo sapiens Spectrin beta chain, erythrocytic Proteins 0.000 description 1
101000864761 Homo sapiens Splicing factor 1 Proteins 0.000 description 1
101000631826 Homo sapiens Stearoyl-CoA desaturase Proteins 0.000 description 1
101000617830 Homo sapiens Sterol O-acyltransferase 1 Proteins 0.000 description 1
101000634060 Homo sapiens Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating Proteins 0.000 description 1
101000727767 Homo sapiens Sulfate anion transporter 1 Proteins 0.000 description 1
101000643632 Homo sapiens Synaptonemal complex protein 3 Proteins 0.000 description 1
101100368708 Homo sapiens TACSTD2 gene Proteins 0.000 description 1
101000891092 Homo sapiens TAR DNA-binding protein 43 Proteins 0.000 description 1
101100537779 Homo sapiens TPM2 gene Proteins 0.000 description 1
101000649068 Homo sapiens Tapasin Proteins 0.000 description 1
101000889890 Homo sapiens Testis-expressed protein 11 Proteins 0.000 description 1
101000658622 Homo sapiens Testis-specific Y-encoded-like protein 2 Proteins 0.000 description 1
101000799388 Homo sapiens Thiopurine S-methyltransferase Proteins 0.000 description 1
101000802084 Homo sapiens Thiosulfate sulfurtransferase Proteins 0.000 description 1
101000800133 Homo sapiens Thyroglobulin Proteins 0.000 description 1
101000819074 Homo sapiens Transcription factor GATA-4 Proteins 0.000 description 1
101000687905 Homo sapiens Transcription factor SOX-2 Proteins 0.000 description 1
101000894871 Homo sapiens Transcription regulator protein BACH1 Proteins 0.000 description 1
101000845264 Homo sapiens Transcription termination factor 2 Proteins 0.000 description 1
101000801260 Homo sapiens Troponin C, slow skeletal and cardiac muscles Proteins 0.000 description 1
101000851334 Homo sapiens Troponin I, cardiac muscle Proteins 0.000 description 1
101000851865 Homo sapiens Tryptophan 5-hydroxylase 2 Proteins 0.000 description 1
101000800287 Homo sapiens Tubulointerstitial nephritis antigen-like Proteins 0.000 description 1
101000693985 Homo sapiens Twinkle mtDNA helicase Proteins 0.000 description 1
101001135589 Homo sapiens Tyrosine-protein phosphatase non-receptor type 22 Proteins 0.000 description 1
101000697875 Homo sapiens UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 Proteins 0.000 description 1
101000831708 Homo sapiens Ubiquitin carboxyl-terminal hydrolase CYLD Proteins 0.000 description 1
101000772888 Homo sapiens Ubiquitin-protein ligase E3A Proteins 0.000 description 1
101000982055 Homo sapiens Unconventional myosin-Ia Proteins 0.000 description 1
101000854700 Homo sapiens Vacuolar protein sorting-associated protein 33B Proteins 0.000 description 1
101000666934 Homo sapiens Very low-density lipoprotein receptor Proteins 0.000 description 1
101000666874 Homo sapiens Visinin-like protein 1 Proteins 0.000 description 1
101000983947 Homo sapiens Voltage-dependent L-type calcium channel subunit beta-4 Proteins 0.000 description 1
101100317359 Homo sapiens WHRN gene Proteins 0.000 description 1
101000743137 Homo sapiens Wiskott-Aldrich syndrome protein family member 1 Proteins 0.000 description 1
101000666295 Homo sapiens X-box-binding protein 1 Proteins 0.000 description 1
101100053794 Homo sapiens ZBTB7C gene Proteins 0.000 description 1
101000691578 Homo sapiens Zinc finger protein PLAG1 Proteins 0.000 description 1
101000685830 Homo sapiens Zinc transporter ZIP4 Proteins 0.000 description 1
101710082232 Hydrogenase-1 large chain Proteins 0.000 description 1
101710120736 Hydrogenase-1 small chain Proteins 0.000 description 1
206010020571 Hyperaldosteronism Diseases 0.000 description 1
208000035150 Hypercholesterolemia Diseases 0.000 description 1
208000021148 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency Diseases 0.000 description 1
208000007599 Hyperkalemic periodic paralysis Diseases 0.000 description 1
206010020751 Hypersensitivity Diseases 0.000 description 1
108700009884 Hypoadiponectinemia Proteins 0.000 description 1
208000003623 Hypoalbuminemia Diseases 0.000 description 1
206010058359 Hypogonadism Diseases 0.000 description 1
108010091358 Hypoxanthine Phosphoribosyltransferase Proteins 0.000 description 1
102100029098 Hypoxanthine-guanine phosphoribosyltransferase Human genes 0.000 description 1
108010007666 IMP cyclohydrolase Proteins 0.000 description 1
102100039352 Immunoglobulin heavy constant mu Human genes 0.000 description 1
102100021042 Immunoglobulin-binding protein 1 Human genes 0.000 description 1
108050000123 Inactive phospholipase C-like protein 1 Proteins 0.000 description 1
206010073206 Infantile cortical hyperostosis Diseases 0.000 description 1
206010061216 Infarction Diseases 0.000 description 1
206010061218 Inflammation Diseases 0.000 description 1
208000022559 Inflammatory bowel disease Diseases 0.000 description 1
102000009433 Insulin Receptor Substrate Proteins Human genes 0.000 description 1
108010034219 Insulin Receptor Substrate Proteins Proteins 0.000 description 1
102100036721 Insulin receptor Human genes 0.000 description 1
102100033262 Insulin-like 3 Human genes 0.000 description 1
102100025515 Insulin-like growth factor-binding protein complex acid labile subunit Human genes 0.000 description 1
208000035478 Interatrial communication Diseases 0.000 description 1
102100035678 Interferon gamma receptor 1 Human genes 0.000 description 1
102100039068 Interleukin-10 Human genes 0.000 description 1
108090000174 Interleukin-10 Proteins 0.000 description 1
102000013462 Interleukin-12 Human genes 0.000 description 1
108010065805 Interleukin-12 Proteins 0.000 description 1
108010038486 Interleukin-4 Receptors Proteins 0.000 description 1
102100026019 Interleukin-6 Human genes 0.000 description 1
108090001005 Interleukin-6 Proteins 0.000 description 1
208000028603 Interstitial lung disease specific to childhood Diseases 0.000 description 1
108700010197 Isolated 17,20-Lyase Deficiency Proteins 0.000 description 1
208000033782 Isolated split hand-split foot malformation Diseases 0.000 description 1
101150113031 Jag1 gene Proteins 0.000 description 1
208000012659 Joint disease Diseases 0.000 description 1
206010071082 Juvenile myoclonic epilepsy Diseases 0.000 description 1
102000017786 KCNJ1 Human genes 0.000 description 1
108091036429 KCNQ1OT1 Proteins 0.000 description 1
101710038303 KIAA0319 Proteins 0.000 description 1
102100022905 Keratin, type II cytoskeletal 1 Human genes 0.000 description 1
208000001126 Keratosis Diseases 0.000 description 1
206010023369 Keratosis follicular Diseases 0.000 description 1
208000037186 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome Diseases 0.000 description 1
101150105104 Kras gene Proteins 0.000 description 1
208000032242 L-Arginine:glycine amidinotransferase deficiency Diseases 0.000 description 1
WTDRDQBEARUVNC-UHFFFAOYSA-N L-Dopa Natural products OC(=O)C(N)CC1=CC=C(O)C(O)=C1 WTDRDQBEARUVNC-UHFFFAOYSA-N 0.000 description 1
208000020858 L1 syndrome Diseases 0.000 description 1
102100035838 Lactosylceramide 4-alpha-galactosyltransferase Human genes 0.000 description 1
102100030928 Lactosylceramide alpha-2,3-sialyltransferase Human genes 0.000 description 1
102100026004 Lactoylglutathione lyase Human genes 0.000 description 1
206010056715 Laurence-Moon-Bardet-Biedl syndrome Diseases 0.000 description 1
201000002503 Leber congenital amaurosis 1 Diseases 0.000 description 1
206010024202 Lens abnormality, congenital Diseases 0.000 description 1
101710115990 Lens fiber membrane intrinsic protein Proteins 0.000 description 1
108700040562 Lethal Neonatal Carnitine Palmitoyltransferase II Deficiency Proteins 0.000 description 1
208000034800 Leukoencephalopathies Diseases 0.000 description 1
102100021607 Lipopolysaccharide-induced tumor necrosis factor-alpha factor Human genes 0.000 description 1
208000035752 Live birth Diseases 0.000 description 1
108010027062 Long-Chain Acyl-CoA Dehydrogenase Proteins 0.000 description 1
102000018653 Long-Chain Acyl-CoA Dehydrogenase Human genes 0.000 description 1
206010072653 Long-chain acyl-coenzyme A dehydrogenase deficiency Diseases 0.000 description 1
102100021644 Long-chain specific acyl-CoA dehydrogenase, mitochondrial Human genes 0.000 description 1
206010025282 Lymphoedema Diseases 0.000 description 1
102100026001 Lysosomal acid lipase/cholesteryl ester hydrolase Human genes 0.000 description 1
102100033468 Lysozyme C Human genes 0.000 description 1
102100021319 MAM domain-containing glycosylphosphatidylinositol anchor protein 2 Human genes 0.000 description 1
201000002961 MASA syndrome Diseases 0.000 description 1
101150083522 MECP2 gene Proteins 0.000 description 1
108010018650 MEF2 Transcription Factors Proteins 0.000 description 1
206010061274 Malocclusion Diseases 0.000 description 1
101710089919 Mannose-P-dolichol utilization defect 1 protein Proteins 0.000 description 1
201000010991 Marinesco-Sjogren syndrome Diseases 0.000 description 1
102100026048 Meckel syndrome type 1 protein Human genes 0.000 description 1
108700000232 Medium chain acyl CoA dehydrogenase deficiency Proteins 0.000 description 1
102100024590 Medium-chain specific acyl-CoA dehydrogenase, mitochondrial Human genes 0.000 description 1
108010023338 Member 3 Subfamily B ATP Binding Cassette Transporter Proteins 0.000 description 1
208000012583 Menkes disease Diseases 0.000 description 1
208000036626 Mental retardation Diseases 0.000 description 1
101100044057 Mesocricetus auratus SYCP3 gene Proteins 0.000 description 1
206010027476 Metastases Diseases 0.000 description 1
108010059724 Micrococcal Nuclease Proteins 0.000 description 1
206010027540 Microcytosis Diseases 0.000 description 1
206010027543 Micrognathia Diseases 0.000 description 1
208000002598 Micrognathism Diseases 0.000 description 1
102100031545 Microsomal triglyceride transfer protein large subunit Human genes 0.000 description 1
108010074346 Mismatch Repair Endonuclease PMS2 Proteins 0.000 description 1
102100030144 Mitotic checkpoint serine/threonine-protein kinase BUB1 beta Human genes 0.000 description 1
102000008109 Mixed Function Oxygenases Human genes 0.000 description 1
108010074633 Mixed Function Oxygenases Proteins 0.000 description 1
102000010909 Monoamine Oxidase Human genes 0.000 description 1
108010062431 Monoamine oxidase Proteins 0.000 description 1
208000032696 Monoamine oxidase A deficiency Diseases 0.000 description 1
208000033180 Monosomy 22q13.3 Diseases 0.000 description 1
102100025744 Mothers against decapentaplegic homolog 1 Human genes 0.000 description 1
208000015622 Multiple epiphyseal dysplasia type 4 Diseases 0.000 description 1
108010086093 Mung Bean Nuclease Proteins 0.000 description 1
101100000206 Mus caroli Orm1 gene Proteins 0.000 description 1
101100127288 Mus musculus Kif1a gene Proteins 0.000 description 1
101100293261 Mus musculus Naa15 gene Proteins 0.000 description 1
101100193635 Mus musculus Rag2 gene Proteins 0.000 description 1
101001123852 Mus musculus Sialidase-2 Proteins 0.000 description 1
101100481512 Mus musculus Timm8a1 gene Proteins 0.000 description 1
101100372908 Mus musculus Vpreb2 gene Proteins 0.000 description 1
208000007101 Muscle Cramp Diseases 0.000 description 1
201000003793 Myelodysplastic syndrome Diseases 0.000 description 1
102000003896 Myeloperoxidases Human genes 0.000 description 1
108090000235 Myeloperoxidases Proteins 0.000 description 1
102100021148 Myocyte-specific enhancer factor 2A Human genes 0.000 description 1
102100038379 Myogenic factor 6 Human genes 0.000 description 1
102100030739 Myosin light chain 4 Human genes 0.000 description 1
102100030788 Myosin light chain kinase 2, skeletal/cardiac muscle Human genes 0.000 description 1
102100035044 Myosin light chain kinase, smooth muscle Human genes 0.000 description 1
101710198035 Myosin light chain kinase, smooth muscle Proteins 0.000 description 1
102100038891 Myosin-8 Human genes 0.000 description 1
102100038894 Myotilin Human genes 0.000 description 1
206010068871 Myotonic dystrophy Diseases 0.000 description 1
108010052185 Myotonin-Protein Kinase Proteins 0.000 description 1
102100022437 Myotonin-protein kinase Human genes 0.000 description 1
102100040602 Myotubularin-related protein 2 Human genes 0.000 description 1
102100023214 NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial Human genes 0.000 description 1
108010082739 NADPH Oxidase 2 Proteins 0.000 description 1
101150082943 NAT1 gene Proteins 0.000 description 1
101150019103 NAT2 gene Proteins 0.000 description 1
101150058473 NDUFV1 gene Proteins 0.000 description 1
101150079937 NEUROD1 gene Proteins 0.000 description 1
101150043994 NOS1 gene Proteins 0.000 description 1
102100021867 Natural resistance-associated macrophage protein 2 Human genes 0.000 description 1
208000009869 Neu-Laxova syndrome Diseases 0.000 description 1
102000014413 Neuregulin Human genes 0.000 description 1
108050003475 Neuregulin Proteins 0.000 description 1
102400000058 Neuregulin-1 Human genes 0.000 description 1
108090000556 Neuregulin-1 Proteins 0.000 description 1
108700020297 NeuroD Proteins 0.000 description 1
102100024007 Neurofilament heavy polypeptide Human genes 0.000 description 1
102100032063 Neurogenic differentiation factor 1 Human genes 0.000 description 1
101100204282 Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987) Asm-1 gene Proteins 0.000 description 1
101710159376 Neutral and basic amino acid transport protein rBAT Proteins 0.000 description 1
102100023620 Neutrophil cytosol factor 1 Human genes 0.000 description 1
102100023618 Neutrophil cytosol factor 2 Human genes 0.000 description 1
102100035377 Nipped-B-like protein Human genes 0.000 description 1
108010029755 Notch1 Receptor Proteins 0.000 description 1
108010029751 Notch2 Receptor Proteins 0.000 description 1
108010029741 Notch4 Receptor Proteins 0.000 description 1
102100039614 Nuclear receptor ROR-alpha Human genes 0.000 description 1
102100037223 Nuclear receptor coactivator 1 Human genes 0.000 description 1
102100022673 Nuclear receptor subfamily 4 group A member 3 Human genes 0.000 description 1
208000035023 Oculocerebrorenal syndrome of Lowe Diseases 0.000 description 1
208000036700 Oculomotor apraxia Diseases 0.000 description 1
206010030136 Oesophageal achalasia Diseases 0.000 description 1
208000031785 Okihiro syndrome Diseases 0.000 description 1
208000006440 Open Bite Diseases 0.000 description 1
108700022034 Opsonin Proteins Proteins 0.000 description 1
102100021079 Ornithine decarboxylase Human genes 0.000 description 1
101710120430 Ornithine decarboxylase 1 Proteins 0.000 description 1
101100111940 Oryza sativa subsp. japonica CYP724B1 gene Proteins 0.000 description 1
206010033128 Ovarian cancer Diseases 0.000 description 1
206010061535 Ovarian neoplasm Diseases 0.000 description 1
102100040444 P2X purinoceptor 1 Human genes 0.000 description 1
101710189973 P2X purinoceptor 1 Proteins 0.000 description 1
102100037141 PAX-interacting protein 1 Human genes 0.000 description 1
101150102323 PDYN gene Proteins 0.000 description 1
102100035126 PHD finger protein 11 Human genes 0.000 description 1
102000023984 PPAR alpha Human genes 0.000 description 1
108010028924 PPAR alpha Proteins 0.000 description 1
102000000536 PPAR gamma Human genes 0.000 description 1
101150010978 PRKCE gene Proteins 0.000 description 1
101150035190 PSEN1 gene Proteins 0.000 description 1
206010033554 Palmoplantar keratoderma Diseases 0.000 description 1
102100037878 Pancreas transcription factor 1 subunit alpha Human genes 0.000 description 1
102100041030 Pancreas/duodenum homeobox protein 1 Human genes 0.000 description 1
208000018737 Parkinson disease Diseases 0.000 description 1
102100037499 Parkinson disease protein 7 Human genes 0.000 description 1
208000027089 Parkinsonian disease Diseases 0.000 description 1
206010034010 Parkinsonism Diseases 0.000 description 1
102000007497 Patched-2 Receptor Human genes 0.000 description 1
108010071083 Patched-2 Receptor Proteins 0.000 description 1
102000008880 Peptidase C12, ubiquitin carboxyl-terminal hydrolases Human genes 0.000 description 1
108050000823 Peptidase C12, ubiquitin carboxyl-terminal hydrolases Proteins 0.000 description 1
241001442654 Percnon planissimum Species 0.000 description 1
102100028223 Peroxisomal membrane protein PEX13 Human genes 0.000 description 1
102100022587 Peroxisomal multifunctional enzyme type 2 Human genes 0.000 description 1
101710101427 Peroxisomal targeting signal 1 receptor Proteins 0.000 description 1
101710183599 Peroxisomal targeting signal receptor Proteins 0.000 description 1
102100024925 Peroxisome assembly protein 26 Human genes 0.000 description 1
102100030554 Peroxisome biogenesis factor 10 Human genes 0.000 description 1
208000037581 Persistent Infection Diseases 0.000 description 1
102100031014 Phosphatidylinositol-binding clathrin assembly protein Human genes 0.000 description 1
102100037883 Phospholipase B1, membrane-associated Human genes 0.000 description 1
108010064209 Phosphoribosylglycinamide formyltransferase Proteins 0.000 description 1
102100039654 Phosphoribosylglycinamide formyltransferase Human genes 0.000 description 1
208000000609 Pick Disease of the Brain Diseases 0.000 description 1
208000024571 Pick disease Diseases 0.000 description 1
101100352419 Pithecopus hypochondrialis psn1 gene Proteins 0.000 description 1
102100029331 Plakophilin-1 Human genes 0.000 description 1
102100030348 Plakophilin-2 Human genes 0.000 description 1
108050002011 Plasma membrane calcium-transporting ATPase 2 Proteins 0.000 description 1
102000013566 Plasminogen Human genes 0.000 description 1
108010051456 Plasminogen Proteins 0.000 description 1
102100036851 Platelet glycoprotein IX Human genes 0.000 description 1
102100040990 Platelet-derived growth factor subunit B Human genes 0.000 description 1
101710103494 Platelet-derived growth factor subunit B Proteins 0.000 description 1
229920001090 Polyaminopropyl biguanide Polymers 0.000 description 1
208000020424 Polyglandular disease Diseases 0.000 description 1
102100039685 Polypeptide N-acetylgalactosaminyltransferase 3 Human genes 0.000 description 1
101710169169 Polyprenol monophosphomannose synthase Proteins 0.000 description 1
102100030432 Polyubiquitin-B Human genes 0.000 description 1
208000009989 Posterior Leukoencephalopathy Syndrome Diseases 0.000 description 1
102100034363 Potassium voltage-gated channel subfamily KQT member 4 Human genes 0.000 description 1
108010015078 Pregnancy-Associated alpha 2-Macroglobulins Proteins 0.000 description 1
102000015499 Presenilins Human genes 0.000 description 1
108010050254 Presenilins Proteins 0.000 description 1
102000029797 Prion Human genes 0.000 description 1
108091000054 Prion Proteins 0.000 description 1
102100026610 Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase Human genes 0.000 description 1
102100035198 Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 Human genes 0.000 description 1
102100034785 Programmed cell death protein 6 Human genes 0.000 description 1
208000034461 Progressive cone dystrophy Diseases 0.000 description 1
208000033635 Progressive familial intrahepatic cholestasis type 4 Diseases 0.000 description 1
102100024212 Prostaglandin D2 receptor Human genes 0.000 description 1
102100038277 Prostaglandin G/H synthase 1 Human genes 0.000 description 1
102100033279 Prostaglandin-H2 D-isomerase Human genes 0.000 description 1
108010072866 Prostate-Specific Antigen Proteins 0.000 description 1
102100038358 Prostate-specific antigen Human genes 0.000 description 1
101710151089 Protein CLN8 Proteins 0.000 description 1
108010032428 Protein Deglycase DJ-1 Proteins 0.000 description 1
108091008611 Protein Kinase B Proteins 0.000 description 1
102100024980 Protein NDRG1 Human genes 0.000 description 1
102100022988 Protein arginine N-methyltransferase 2 Human genes 0.000 description 1
102100038675 Protein phosphatase 1D Human genes 0.000 description 1
102100027384 Proto-oncogene tyrosine-protein kinase Src Human genes 0.000 description 1
108010007100 Pulmonary Surfactant-Associated Protein A Proteins 0.000 description 1
102100030060 Pulmonary surfactant-associated protein A1 Human genes 0.000 description 1
101710154444 Putative DNA-directed RNA polymerase subunit omega Proteins 0.000 description 1
101710201301 Putative pterin-4-alpha-carbinolamine dehydratase Proteins 0.000 description 1
108700014121 Pyruvate Kinase Deficiency of Red Cells Proteins 0.000 description 1
102100034909 Pyruvate kinase PKLR Human genes 0.000 description 1
LCTONWCANYUPML-UHFFFAOYSA-N Pyruvic acid Chemical compound CC(=O)C(O)=O LCTONWCANYUPML-UHFFFAOYSA-N 0.000 description 1
102100033810 RAC-alpha serine/threonine-protein kinase Human genes 0.000 description 1
102100032314 RAC-gamma serine/threonine-protein kinase Human genes 0.000 description 1
102100022491 RNA-binding protein NOB1 Human genes 0.000 description 1
102000004913 RYR1 Human genes 0.000 description 1
108060007240 RYR1 Proteins 0.000 description 1
102000004912 RYR2 Human genes 0.000 description 1
108060007241 RYR2 Proteins 0.000 description 1
101100170538 Rattus norvegicus Disc1 gene Proteins 0.000 description 1
102100029986 Receptor tyrosine-protein kinase erbB-3 Human genes 0.000 description 1
101710100969 Receptor tyrosine-protein kinase erbB-3 Proteins 0.000 description 1
101710100963 Receptor tyrosine-protein kinase erbB-4 Proteins 0.000 description 1
102100029981 Receptor tyrosine-protein kinase erbB-4 Human genes 0.000 description 1
102000018120 Recombinases Human genes 0.000 description 1
108010091086 Recombinases Proteins 0.000 description 1
102100028148 Regulator of G-protein signaling 9-binding protein Human genes 0.000 description 1
102100021043 Regulatory factor X-associated protein Human genes 0.000 description 1
102100032445 Relaxin receptor 2 Human genes 0.000 description 1
108090000783 Renin Proteins 0.000 description 1
102100028255 Renin Human genes 0.000 description 1
108010047909 Resistin Proteins 0.000 description 1
206010038687 Respiratory distress Diseases 0.000 description 1
208000008709 Retinal Telangiectasis Diseases 0.000 description 1
102100028001 Retinaldehyde-binding protein 1 Human genes 0.000 description 1
102100038042 Retinoblastoma-associated protein Human genes 0.000 description 1
206010039085 Rhinitis allergic Diseases 0.000 description 1
102100021446 Rho GTPase-activating protein 7 Human genes 0.000 description 1
101001047679 Rhyparobia maderae Leucomyosuppressin Proteins 0.000 description 1
208000035217 Ring chromosome 1 syndrome Diseases 0.000 description 1
101000744001 Ruminococcus gnavus (strain ATCC 29149 / VPI C7-9) 3beta-hydroxysteroid dehydrogenase Proteins 0.000 description 1
102100032122 Ryanodine receptor 1 Human genes 0.000 description 1
101150097162 SERPING1 gene Proteins 0.000 description 1
102100027720 SH2 domain-containing protein 1A Human genes 0.000 description 1
102100032022 SH3 domain and tetratricopeptide repeat-containing protein 2 Human genes 0.000 description 1
108091006614 SLC10A2 Proteins 0.000 description 1
108091006618 SLC11A2 Proteins 0.000 description 1
108091006584 SLC14A1 Proteins 0.000 description 1
108091006599 SLC16A2 Proteins 0.000 description 1
108091006779 SLC19A3 Proteins 0.000 description 1
108091006736 SLC22A5 Proteins 0.000 description 1
108091006422 SLC25A20 Proteins 0.000 description 1
108091006504 SLC26A3 Proteins 0.000 description 1
108091006507 SLC26A4 Proteins 0.000 description 1
108091006506 SLC26A5 Proteins 0.000 description 1
108091006955 SLC35C1 Proteins 0.000 description 1
108091006947 SLC39A4 Proteins 0.000 description 1
108091006311 SLC3A1 Proteins 0.000 description 1
102000005041 SLC6A8 Human genes 0.000 description 1
101700032040 SMAD1 Proteins 0.000 description 1
108060009345 SORL1 Proteins 0.000 description 1
102000001332 SRC Human genes 0.000 description 1
108060006706 SRC Proteins 0.000 description 1
240000004808 Saccharomyces cerevisiae Species 0.000 description 1
101000729661 Saccharomyces cerevisiae (strain ATCC 204508 / S288c) 40S ribosomal protein S8-A Proteins 0.000 description 1
101000635513 Saccharomyces cerevisiae (strain ATCC 204508 / S288c) 40S ribosomal protein S8-B Proteins 0.000 description 1
101100277345 Saccharomyces cerevisiae (strain ATCC 204508 / S288c) DDP1 gene Proteins 0.000 description 1
101001025539 Saccharomyces cerevisiae (strain ATCC 204508 / S288c) Homothallic switching endonuclease Proteins 0.000 description 1
101000995829 Saccharomyces cerevisiae (strain ATCC 204508 / S288c) Nucleotide pyrophosphatase Proteins 0.000 description 1
101100149588 Saccharomyces cerevisiae (strain ATCC 204508 / S288c) SLM2 gene Proteins 0.000 description 1
102100037192 Sal-like protein 4 Human genes 0.000 description 1
101710109122 Sarcoplasmic/endoplasmic reticulum calcium ATPase 1 Proteins 0.000 description 1
101100080600 Schizosaccharomyces pombe (strain 972 / ATCC 24843) nse6 gene Proteins 0.000 description 1
208000036451 Schwartz-Jampel syndrome type 1 Diseases 0.000 description 1
102100037505 Secretin Human genes 0.000 description 1
241000252141 Semionotiformes Species 0.000 description 1
102100023921 Serine/threonine-protein kinase ATR Human genes 0.000 description 1
102100038376 Serine/threonine-protein kinase PINK1, mitochondrial Human genes 0.000 description 1
102000019208 Serotonin Plasma Membrane Transport Proteins Human genes 0.000 description 1
108010012996 Serotonin Plasma Membrane Transport Proteins Proteins 0.000 description 1
102100022824 Serum paraoxonase/arylesterase 2 Human genes 0.000 description 1
108700017825 Short chain Acyl CoA dehydrogenase deficiency Proteins 0.000 description 1
206010072655 Short-chain acyl-coenzyme A dehydrogenase deficiency Diseases 0.000 description 1
102100024639 Short-chain specific acyl-CoA dehydrogenase, mitochondrial Human genes 0.000 description 1
102100035766 Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial Human genes 0.000 description 1
101000873420 Simian virus 40 SV40 early leader protein Proteins 0.000 description 1
206010040851 Skin fragility Diseases 0.000 description 1
101150061657 Slc10a2 gene Proteins 0.000 description 1
101150028423 Slc6a4 gene Proteins 0.000 description 1
101710090597 Smoothened homolog Proteins 0.000 description 1
102100023153 Sodium- and chloride-dependent creatine transporter 1 Human genes 0.000 description 1
102100028874 Sodium-dependent serotonin transporter Human genes 0.000 description 1
108010038615 Solute Carrier Family 22 Member 5 Proteins 0.000 description 1
101710104314 Solute carrier family 2, facilitated glucose transporter member 1 Proteins 0.000 description 1
102100023806 Somatostatin receptor type 5 Human genes 0.000 description 1
101710113849 Sonic hedgehog protein Proteins 0.000 description 1
102100025639 Sortilin-related receptor Human genes 0.000 description 1
102100037613 Spectrin beta chain, erythrocytic Human genes 0.000 description 1
208000010112 Spinocerebellar Degenerations Diseases 0.000 description 1
208000011641 Spinocerebellar disease Diseases 0.000 description 1
102100028897 Stearoyl-CoA desaturase Human genes 0.000 description 1
102100039081 Steroid Delta-isomerase Human genes 0.000 description 1
108010048349 Steroidogenic Factor 1 Proteins 0.000 description 1
102100029238 Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating Human genes 0.000 description 1
101000879633 Streptomyces antifibrinolyticus Plasminostreptin Proteins 0.000 description 1
101000761220 Streptomyces clavuligerus Clavaminate synthase 2 Proteins 0.000 description 1
101000619156 Streptomyces griseus Streptogrisin-A Proteins 0.000 description 1
102100032723 Structural maintenance of chromosomes protein 3 Human genes 0.000 description 1
102100030100 Sulfate anion transporter 1 Human genes 0.000 description 1
208000033897 Systemic primary carnitine deficiency Diseases 0.000 description 1
208000012827 T-B+ severe combined immunodeficiency due to gamma chain deficiency Diseases 0.000 description 1
102100036839 T-box transcription factor TBX22 Human genes 0.000 description 1
210000001744 T-lymphocyte Anatomy 0.000 description 1
108700012457 TACSTD2 Proteins 0.000 description 1
102100040347 TAR DNA-binding protein 43 Human genes 0.000 description 1
101150064104 TIMM8A gene Proteins 0.000 description 1
101150115335 TPH2 gene Proteins 0.000 description 1
208000001871 Tachycardia Diseases 0.000 description 1
101150117918 Tacstd2 gene Proteins 0.000 description 1
108010017842 Telomerase Proteins 0.000 description 1
102100034917 Testis-specific Y-encoded-like protein 2 Human genes 0.000 description 1
102100030103 Thiamine transporter 2 Human genes 0.000 description 1
102100034162 Thiopurine S-methyltransferase Human genes 0.000 description 1
208000007536 Thrombosis Diseases 0.000 description 1
102100036704 Thromboxane A2 receptor Human genes 0.000 description 1
108090000300 Thromboxane Receptors Proteins 0.000 description 1
102100033504 Thyroglobulin Human genes 0.000 description 1
201000000509 Tibial muscular dystrophy Diseases 0.000 description 1
101150079992 Timp3 gene Proteins 0.000 description 1
102000005406 Tissue Inhibitor of Metalloproteinase-3 Human genes 0.000 description 1
108090000373 Tissue Plasminogen Activator Proteins 0.000 description 1
102000004893 Transcription factor AP-2 Human genes 0.000 description 1
108090001039 Transcription factor AP-2 Proteins 0.000 description 1
102100021380 Transcription factor GATA-4 Human genes 0.000 description 1
102100024270 Transcription factor SOX-2 Human genes 0.000 description 1
102100031080 Transcription termination factor 2 Human genes 0.000 description 1
102100028748 Transportin-1 Human genes 0.000 description 1
108010039203 Tripeptidyl-Peptidase 1 Proteins 0.000 description 1
102100034197 Tripeptidyl-peptidase 1 Human genes 0.000 description 1
201000007073 Triple A syndrome Diseases 0.000 description 1
102100036859 Troponin I, cardiac muscle Human genes 0.000 description 1
102100026896 Troponin T, fast skeletal muscle Human genes 0.000 description 1
102100040653 Tryptophan 2,3-dioxygenase Human genes 0.000 description 1
101710136122 Tryptophan 2,3-dioxygenase Proteins 0.000 description 1
102100036474 Tryptophan 5-hydroxylase 2 Human genes 0.000 description 1
108010031944 Tryptophan Hydroxylase Proteins 0.000 description 1
102000005506 Tryptophan Hydroxylase Human genes 0.000 description 1
108060008682 Tumor Necrosis Factor Proteins 0.000 description 1
102000000852 Tumor Necrosis Factor-alpha Human genes 0.000 description 1
102100027193 Twinkle mtDNA helicase Human genes 0.000 description 1
102000007537 Type II DNA Topoisomerases Human genes 0.000 description 1
108010035075 Tyrosine decarboxylase Proteins 0.000 description 1
101710116223 Tyrosine-protein phosphatase non-receptor type 22 Proteins 0.000 description 1
101150035006 UBA3 gene Proteins 0.000 description 1
102100027960 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 Human genes 0.000 description 1
108010070808 UDP-galactose-lactosylceramide alpha 1-4-galactosyltransferase Proteins 0.000 description 1
102100024250 Ubiquitin carboxyl-terminal hydrolase CYLD Human genes 0.000 description 1
101710188886 Ubiquitin-protein ligase E3A Proteins 0.000 description 1
102100026773 Unconventional myosin-Ia Human genes 0.000 description 1
208000006105 Uterine Cervical Neoplasms Diseases 0.000 description 1
108090000203 Uteroglobin Proteins 0.000 description 1
102100039113 Vacuolar protein sorting-associated protein 13B Human genes 0.000 description 1
102100020776 Vacuolar protein sorting-associated protein 33B Human genes 0.000 description 1
102100038287 Visinin-like protein 1 Human genes 0.000 description 1
102100025836 Voltage-dependent L-type calcium channel subunit beta-4 Human genes 0.000 description 1
102000053200 Von Hippel-Lindau Tumor Suppressor Human genes 0.000 description 1
108700031765 Von Hippel-Lindau Tumor Suppressor Proteins 0.000 description 1
208000008383 Wilms tumor Diseases 0.000 description 1
201000008803 Wolff-Parkinson-white syndrome Diseases 0.000 description 1
208000031900 Woolly hair Diseases 0.000 description 1
210000001766 X chromosome Anatomy 0.000 description 1
108010035430 X-Box Binding Protein 1 Proteins 0.000 description 1
108010038900 X-Pro aminopeptidase Proteins 0.000 description 1
208000031690 X-linked Charcot-Marie-Tooth disease type 1 Diseases 0.000 description 1
108700005875 X-linked Creatine deficiency Proteins 0.000 description 1
208000024066 X-linked chondrodysplasia punctata Diseases 0.000 description 1
201000006878 X-linked chondrodysplasia punctata 2 Diseases 0.000 description 1
201000000694 X-linked cleft palate with or without ankyloglossia Diseases 0.000 description 1
208000029275 X-linked deafness 2 Diseases 0.000 description 1
108010074310 X-ray repair cross complementing protein 3 Proteins 0.000 description 1
102100038364 Xaa-Pro aminopeptidase 2 Human genes 0.000 description 1
108700031763 Xeroderma Pigmentosum Group D Proteins 0.000 description 1
101001130242 Zea mays DNA repair protein RAD51 homolog A Proteins 0.000 description 1
208000036813 Zellweger spectrum disease Diseases 0.000 description 1
102100026200 Zinc finger protein PLAG1 Human genes 0.000 description 1
MCGSCOLBFJQGHM-SCZZXKLOSA-N abacavir Chemical compound C=12N=CN([C@H]3C=C[C@@H](CO)C3)C2=NC(N)=NC=1NC1CC1 MCGSCOLBFJQGHM-SCZZXKLOSA-N 0.000 description 1
229960004748 abacavir Drugs 0.000 description 1
230000001594 aberrant effect Effects 0.000 description 1
230000002159 abnormal effect Effects 0.000 description 1
RTRQQBHATOEIAF-UUOKFMHZSA-N acadesine Chemical compound NC1=C(C(=O)N)N=CN1[C@H]1[C@H](O)[C@H](O)[C@@H](CO)O1 RTRQQBHATOEIAF-UUOKFMHZSA-N 0.000 description 1
208000003486 acatalasia Diseases 0.000 description 1
201000000621 achalasia Diseases 0.000 description 1
201000007072 acheiropody Diseases 0.000 description 1
208000005065 achondrogenesis Diseases 0.000 description 1
201000010140 achondrogenesis type IB Diseases 0.000 description 1
208000008919 achondroplasia Diseases 0.000 description 1
208000006771 acrocapitofemoral dysplasia Diseases 0.000 description 1
206010000596 acrodermatitis enteropathica Diseases 0.000 description 1
201000007079 acrokeratosis verruciformis Diseases 0.000 description 1
208000001884 acromesomelic dysplasia Diseases 0.000 description 1
201000010091 acromesomelic dysplasia, Maroteaux type Diseases 0.000 description 1
230000001154 acute effect Effects 0.000 description 1
208000009956 adenocarcinoma Diseases 0.000 description 1
201000009628 adenosine deaminase deficiency Diseases 0.000 description 1
208000000391 adenylosuccinate lyase deficiency Diseases 0.000 description 1
206010001323 adrenal adenoma Diseases 0.000 description 1
208000015234 adrenal cortex adenoma Diseases 0.000 description 1
208000020990 adrenal cortex carcinoma Diseases 0.000 description 1
230000001919 adrenal effect Effects 0.000 description 1
208000007128 adrenocortical carcinoma Diseases 0.000 description 1
208000017515 adrenocortical insufficiency Diseases 0.000 description 1
239000000556 agonist Substances 0.000 description 1
229960002478 aldosterone Drugs 0.000 description 1
206010001689 alkaptonuria Diseases 0.000 description 1
208000026935 allergic disease Diseases 0.000 description 1
201000010105 allergic rhinitis Diseases 0.000 description 1
208000032775 alopecia universalis congenita Diseases 0.000 description 1
108090000185 alpha-Synuclein Proteins 0.000 description 1
201000002394 amelogenesis imperfecta type 1E Diseases 0.000 description 1
XCPGHVQEEXUHNC-UHFFFAOYSA-N amsacrine Chemical compound COC1=CC(NS(C)(=O)=O)=CC=C1NC1=C(C=CC=C2)C2=NC2=CC=CC=C12 XCPGHVQEEXUHNC-UHFFFAOYSA-N 0.000 description 1
229960001220 amsacrine Drugs 0.000 description 1
230000036592 analgesia Effects 0.000 description 1
238000004458 analytical method Methods 0.000 description 1
239000003098 androgen Substances 0.000 description 1
229940044094 angiotensin-converting-enzyme inhibitor Drugs 0.000 description 1
208000028743 anhaptoglobinemia Diseases 0.000 description 1
208000008303 aniridia Diseases 0.000 description 1
239000003242 anti bacterial agent Substances 0.000 description 1
230000002590 anti-leukotriene effect Effects 0.000 description 1
208000007474 aortic aneurysm Diseases 0.000 description 1
101150089041 aph-1 gene Proteins 0.000 description 1
208000003822 aplasia of lacrimal and salivary glands Diseases 0.000 description 1
208000009262 apparent mineralocorticoid excess Diseases 0.000 description 1
238000013459 approach Methods 0.000 description 1
201000003554 argininosuccinic aciduria Diseases 0.000 description 1
KBZOIRJILGZLEJ-LGYYRGKSSA-N argipressin Chemical compound C([C@H]1C(=O)N[C@@H](CCC(N)=O)C(=O)N[C@@H](CC(N)=O)C(=O)N[C@@H](CSSC[C@@H](C(N[C@@H](CC=2C=CC(O)=CC=2)C(=O)N1)=O)N)C(=O)N1[C@@H](CCC1)C(=O)N[C@@H](CCCN=C(N)N)C(=O)NCC(N)=O)C1=CC=CC=C1 KBZOIRJILGZLEJ-LGYYRGKSSA-N 0.000 description 1
201000002494 arrhythmogenic right ventricular dysplasia 2 Diseases 0.000 description 1
201000002505 arrhythmogenic right ventricular dysplasia 8 Diseases 0.000 description 1
201000002504 arrhythmogenic right ventricular dysplasia 9 Diseases 0.000 description 1
210000001367 artery Anatomy 0.000 description 1
230000001174 ascending effect Effects 0.000 description 1
201000007845 atelosteogenesis Diseases 0.000 description 1
201000007867 atransferrinemia Diseases 0.000 description 1
208000013914 atrial heart septal defect Diseases 0.000 description 1
201000009218 atrial heart septal defect 2 Diseases 0.000 description 1
206010003664 atrial septal defect Diseases 0.000 description 1
208000004677 atrial septal defect 2 Diseases 0.000 description 1
208000010203 atrichia with papular lesions Diseases 0.000 description 1
230000037444 atrophy Effects 0.000 description 1
208000015802 attention deficit-hyperactivity disease Diseases 0.000 description 1
230000002238 attenuated effect Effects 0.000 description 1
230000001363 autoimmune Effects 0.000 description 1
208000010928 autoimmune thyroid disease Diseases 0.000 description 1
231100000877 autonomic nervous system dysfunction Toxicity 0.000 description 1
201000005822 autosomal dominant nonsyndromic deafness 13 Diseases 0.000 description 1
201000005758 autosomal dominant nonsyndromic deafness 40 Diseases 0.000 description 1
208000033966 autosomal dominant nonsyndromic hearing loss 13 Diseases 0.000 description 1
208000032983 autosomal dominant nonsyndromic hearing loss 40 Diseases 0.000 description 1
208000036351 autosomal dominant otospondylomegaepiphyseal dysplasia Diseases 0.000 description 1
208000036556 autosomal recessive T cell-negative B cell-negative NK cell-negative due to adenosine deaminase deficiency severe combined immunodeficiency Diseases 0.000 description 1
201000009531 autosomal recessive limb-girdle muscular dystrophy type 2G Diseases 0.000 description 1
201000011383 autosomal recessive nonsyndromic deafness 22 Diseases 0.000 description 1
201000011340 autosomal recessive nonsyndromic deafness 31 Diseases 0.000 description 1
201000011345 autosomal recessive nonsyndromic deafness 4 Diseases 0.000 description 1
201000006197 autosomal recessive nonsyndromic deafness 6 Diseases 0.000 description 1
201000006192 autosomal recessive nonsyndromic deafness 61 Diseases 0.000 description 1
208000035438 autosomal recessive nonsyndromic hearing loss 22 Diseases 0.000 description 1
208000035257 autosomal recessive nonsyndromic hearing loss 31 Diseases 0.000 description 1
208000032347 autosomal recessive nonsyndromic hearing loss 4 Diseases 0.000 description 1
208000032441 autosomal recessive nonsyndromic hearing loss 6 Diseases 0.000 description 1
208000035747 autosomal recessive nonsyndromic hearing loss 61 Diseases 0.000 description 1
210000003719 b-lymphocyte Anatomy 0.000 description 1
102000055102 bcl-2-Associated X Human genes 0.000 description 1
108010023562 beta 2-Glycoprotein I Proteins 0.000 description 1
206010067728 beta-ketothiolase deficiency Diseases 0.000 description 1
230000003115 biocidal effect Effects 0.000 description 1
229960002685 biotin Drugs 0.000 description 1
235000020958 biotin Nutrition 0.000 description 1
239000011616 biotin Substances 0.000 description 1
206010071434 biotinidase deficiency Diseases 0.000 description 1
208000034158 bleeding Diseases 0.000 description 1
230000000740 bleeding effect Effects 0.000 description 1
206010005159 blepharospasm Diseases 0.000 description 1
230000000744 blepharospasm Effects 0.000 description 1
210000000988 bone and bone Anatomy 0.000 description 1
201000003248 brachydactyly type B1 Diseases 0.000 description 1
210000000133 brain stem Anatomy 0.000 description 1
210000000481 breast Anatomy 0.000 description 1
239000000872 buffer Substances 0.000 description 1
108010064675 calcium dependent sulfhydryl protease Proteins 0.000 description 1
239000001506 calcium phosphate Substances 0.000 description 1
229910000389 calcium phosphate Inorganic materials 0.000 description 1
235000011010 calcium phosphates Nutrition 0.000 description 1
208000014729 capillary malformation Diseases 0.000 description 1
208000022843 carbamoyl phosphate synthetase I deficiency disease Diseases 0.000 description 1
208000006064 carboxypeptidase N deficiency Diseases 0.000 description 1
208000002458 carcinoid tumor Diseases 0.000 description 1
208000025836 cardioencephalomyopathy Diseases 0.000 description 1
208000003295 carpal tunnel syndrome Diseases 0.000 description 1
201000009847 cataract 14 multiple types Diseases 0.000 description 1
201000009853 cataract 16 multiple types Diseases 0.000 description 1
108010017322 catch-relaxing peptide (Mytilus) Proteins 0.000 description 1
125000002091 cationic group Chemical group 0.000 description 1
238000004113 cell culture Methods 0.000 description 1
238000012832 cell culture technique Methods 0.000 description 1
230000003915 cell function Effects 0.000 description 1
239000013592 cell lysate Substances 0.000 description 1
210000003169 central nervous system Anatomy 0.000 description 1
208000025442 cerebellar agenesis Diseases 0.000 description 1
208000005093 cerebellar hypoplasia Diseases 0.000 description 1
208000016886 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy Diseases 0.000 description 1
201000007880 cerebral cavernous malformation 1 Diseases 0.000 description 1
230000002490 cerebral effect Effects 0.000 description 1
208000026106 cerebrovascular disease Diseases 0.000 description 1
201000010881 cervical cancer Diseases 0.000 description 1
DYVFBWXIOCLHPP-UHFFFAOYSA-N chembl368427 Chemical compound N#CC=1C(N)=NC(C=2C(=CC=CC=2O)OCC2CC2)=CC=1C1CCNCC1 DYVFBWXIOCLHPP-UHFFFAOYSA-N 0.000 description 1
239000003795 chemical substances by application Substances 0.000 description 1
238000002512 chemotherapy Methods 0.000 description 1
108010057052 chitotriosidase Proteins 0.000 description 1
201000001883 cholelithiasis Diseases 0.000 description 1
208000024042 cholesterol ester storage disease Diseases 0.000 description 1
208000013760 cholesteryl ester storage disease Diseases 0.000 description 1
208000008455 chondrocalcinosis 2 Diseases 0.000 description 1
208000012601 choreatic disease Diseases 0.000 description 1
208000032066 chronic autosomal recessive cytochrome b-positive type 1 granulomatous disease Diseases 0.000 description 1
208000032077 chronic autosomal recessive cytochrome b-positive type 2 granulomatous disease Diseases 0.000 description 1
230000001684 chronic effect Effects 0.000 description 1
239000003541 chymotrypsin inhibitor Substances 0.000 description 1
238000010367 cloning Methods 0.000 description 1
229960004126 codeine Drugs 0.000 description 1
OROGSEYTTFOCAN-DNJOTXNNSA-N codeine Natural products C([C@H]1[C@H](N(CC[C@@]112)C)C3)=C[C@H](O)[C@@H]1OC1=C2C3=CC=C1OC OROGSEYTTFOCAN-DNJOTXNNSA-N 0.000 description 1
OROGSEYTTFOCAN-DNJOTXNNSA-O codeine(1+) Chemical compound C([C@H]1[C@H]([NH+](CC[C@@]112)C)C3)=C[C@H](O)[C@@H]1OC1=C2C3=CC=C1OC OROGSEYTTFOCAN-DNJOTXNNSA-O 0.000 description 1
229960001338 colchicine Drugs 0.000 description 1
210000001072 colon Anatomy 0.000 description 1
208000011455 combined ApoA-I and ApoC-III deficiency Diseases 0.000 description 1
208000001642 combined saposin deficiency Diseases 0.000 description 1
201000008615 cone dystrophy Diseases 0.000 description 1
208000006260 cone dystrophy 3 Diseases 0.000 description 1
208000003904 cone-rod dystrophy 3 Diseases 0.000 description 1
208000023069 congenital cataracts-facial dysmorphism-neuropathy syndrome Diseases 0.000 description 1
201000001578 congenital disorder of glycosylation type IIa Diseases 0.000 description 1
201000001569 congenital disorder of glycosylation type IIe Diseases 0.000 description 1
208000028831 congenital heart disease Diseases 0.000 description 1
208000019701 congenital isolated adrenocorticotropic hormone deficiency Diseases 0.000 description 1
208000014522 congenital prothrombin deficiency Diseases 0.000 description 1
238000000750 constant-initial-state spectroscopy Methods 0.000 description 1
230000001276 controlling effect Effects 0.000 description 1
230000036461 convulsion Effects 0.000 description 1
101150111293 cor-1 gene Proteins 0.000 description 1
201000003046 cornea plana Diseases 0.000 description 1
201000011634 coronary artery vasospasm Diseases 0.000 description 1
230000001054 cortical effect Effects 0.000 description 1
208000007864 coumarin resistance Diseases 0.000 description 1
201000010095 craniometaphyseal dysplasia Diseases 0.000 description 1
208000015842 craniosynostosis 2 Diseases 0.000 description 1
208000022246 craniosynostosis-fibular aplasia syndrome Diseases 0.000 description 1
108010007169 creatine transporter Proteins 0.000 description 1
208000022993 cryopyrin-associated periodic syndrome Diseases 0.000 description 1
125000004122 cyclic group Chemical group 0.000 description 1
201000004051 cystathioninuria Diseases 0.000 description 1
108010023942 cysteine and glycine-rich protein 3 Proteins 0.000 description 1
208000026615 cytochrome-c oxidase deficiency disease Diseases 0.000 description 1
210000000805 cytoplasm Anatomy 0.000 description 1
230000001086 cytosolic effect Effects 0.000 description 1
201000003332 d-bifunctional protein deficiency Diseases 0.000 description 1
JWPGJSVJDAJRLW-UHFFFAOYSA-N debrisoquin Chemical compound C1=CC=C2CN(C(=N)N)CCC2=C1 JWPGJSVJDAJRLW-UHFFFAOYSA-N 0.000 description 1
229960004096 debrisoquine Drugs 0.000 description 1
210000003785 decidua Anatomy 0.000 description 1
230000007423 decrease Effects 0.000 description 1
230000007850 degeneration Effects 0.000 description 1
230000003111 delayed effect Effects 0.000 description 1
201000001098 delayed sleep phase syndrome Diseases 0.000 description 1
208000033921 delayed sleep phase type circadian rhythm sleep disease Diseases 0.000 description 1
230000003210 demyelinating effect Effects 0.000 description 1
239000000412 dendrimer Substances 0.000 description 1
229920000736 dendritic polymer Polymers 0.000 description 1
208000025729 dengue disease Diseases 0.000 description 1
230000013860 dentinogenesis Effects 0.000 description 1
210000005045 desmin Anatomy 0.000 description 1
208000001335 desmosterolosis Diseases 0.000 description 1
208000033679 diabetic kidney disease Diseases 0.000 description 1
238000001152 differential interference contrast microscopy Methods 0.000 description 1
ULFHSQLFQYTZLS-UHFFFAOYSA-N difluoroamine Chemical compound FNF ULFHSQLFQYTZLS-UHFFFAOYSA-N 0.000 description 1
230000029087 digestion Effects 0.000 description 1
208000004373 dihydropyrimidinase deficiency Diseases 0.000 description 1
208000023411 dihydropyrimidinuria Diseases 0.000 description 1
201000011302 dilated cardiomyopathy 1D Diseases 0.000 description 1
201000011245 dilated cardiomyopathy 1M Diseases 0.000 description 1
230000000447 dimerizing effect Effects 0.000 description 1
208000008512 dimethylglycine dehydrogenase deficiency Diseases 0.000 description 1
MHUWZNTUIIFHAS-CLFAGFIQSA-N dioleoyl phosphatidic acid Chemical compound CCCCCCCC\C=C/CCCCCCCC(=O)OCC(COP(O)(O)=O)OC(=O)CCCCCCC\C=C/CCCCCCCC MHUWZNTUIIFHAS-CLFAGFIQSA-N 0.000 description 1
201000009338 distal myopathy Diseases 0.000 description 1
108700006189 dopamine beta hydroxylase deficiency Proteins 0.000 description 1
208000009308 dopamine beta-hydroxylase deficiency Diseases 0.000 description 1
230000011559 double-strand break repair via nonhomologous end joining Effects 0.000 description 1
238000007876 drug discovery Methods 0.000 description 1
208000019479 dysautonomia Diseases 0.000 description 1
201000006044 dystransthyretinemic hyperthyroxinemia Diseases 0.000 description 1
208000008204 ectopia pupillae Diseases 0.000 description 1
101150016954 efg1 gene Proteins 0.000 description 1
229940121647 egfr inhibitor Drugs 0.000 description 1
235000013601 eggs Nutrition 0.000 description 1
229920002549 elastin Polymers 0.000 description 1
238000004520 electroporation Methods 0.000 description 1
210000001671 embryonic stem cell Anatomy 0.000 description 1
230000003511 endothelial effect Effects 0.000 description 1
238000012407 engineering method Methods 0.000 description 1
239000003623 enhancer Substances 0.000 description 1
230000002255 enzymatic effect Effects 0.000 description 1
238000001976 enzyme digestion Methods 0.000 description 1
208000001155 epidermolysis bullosa with congenital localized absence of skin and deformity of nails Diseases 0.000 description 1
230000001667 episodic effect Effects 0.000 description 1
102000013165 exonuclease Human genes 0.000 description 1
208000012043 faciodigitogenital syndrome Diseases 0.000 description 1
208000018933 factor V and factor VIII, combined deficiency of, type 1 Diseases 0.000 description 1
208000009504 familial dysalbuminemic hyperthyroxinemia Diseases 0.000 description 1
208000013087 familial febrile seizures 4 Diseases 0.000 description 1
201000005577 familial hyperlipidemia Diseases 0.000 description 1
208000012502 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome Diseases 0.000 description 1
208000019692 familial woolly hair syndrome Diseases 0.000 description 1
108010046094 fatty-acid amide hydrolase Proteins 0.000 description 1
108010048325 fibrinopeptides gamma Proteins 0.000 description 1
108091006047 fluorescent proteins Proteins 0.000 description 1
102000034287 fluorescent proteins Human genes 0.000 description 1
238000003209 gene knockout Methods 0.000 description 1
101150100117 gfm1 gene Proteins 0.000 description 1
210000005046 glial fibrillary acidic protein Anatomy 0.000 description 1
102000006602 glyceraldehyde-3-phosphate dehydrogenase Human genes 0.000 description 1
108020004445 glyceraldehyde-3-phosphate dehydrogenase Proteins 0.000 description 1
208000031102 granular corneal dystrophy 1 Diseases 0.000 description 1
208000028431 granular corneal dystrophy 2 Diseases 0.000 description 1
101150002245 grin2a gene Proteins 0.000 description 1
210000002768 hair cell Anatomy 0.000 description 1
208000033666 hereditary antithrombin deficiency Diseases 0.000 description 1
201000001654 hereditary nonpolyposis colorectal cancer type 4 Diseases 0.000 description 1
239000000833 heterodimer Substances 0.000 description 1
108010044853 histidine-rich proteins Proteins 0.000 description 1
208000008803 holoprosencephaly 3 Diseases 0.000 description 1
OROGSEYTTFOCAN-UHFFFAOYSA-N hydrocodone Natural products C1C(N(CCC234)C)C2C=CC(O)C3OC2=C4C1=CC=C2OC OROGSEYTTFOCAN-UHFFFAOYSA-N 0.000 description 1
229960000890 hydrocortisone Drugs 0.000 description 1
201000011286 hyperargininemia Diseases 0.000 description 1
201000000526 hyperphosphatemic familial tumoral calcinosis Diseases 0.000 description 1
230000009610 hypersensitivity Effects 0.000 description 1
201000010565 hypertrophic cardiomyopathy 3 Diseases 0.000 description 1
201000010515 hypertrophic cardiomyopathy 8 Diseases 0.000 description 1
201000010514 hypertrophic cardiomyopathy 9 Diseases 0.000 description 1
208000003074 hypochondrogenesis Diseases 0.000 description 1
201000003368 hypogonadotropic hypogonadism Diseases 0.000 description 1
208000003532 hypothyroidism Diseases 0.000 description 1
230000002989 hypothyroidism Effects 0.000 description 1
238000000530 impalefection Methods 0.000 description 1
238000002513 implantation Methods 0.000 description 1
208000005259 infantile-onset ascending hereditary spastic paralysis Diseases 0.000 description 1
230000007574 infarction Effects 0.000 description 1
230000004054 inflammatory process Effects 0.000 description 1
230000005764 inhibitory process Effects 0.000 description 1
229910052500 inorganic mineral Inorganic materials 0.000 description 1
229940076144 interleukin-10 Drugs 0.000 description 1
229940100601 interleukin-6 Drugs 0.000 description 1
230000000968 intestinal effect Effects 0.000 description 1
208000026847 isolated familial woolly hair disease Diseases 0.000 description 1
102000048260 kappa Opioid Receptors Human genes 0.000 description 1
201000004607 keratosis follicularis Diseases 0.000 description 1
210000003734 kidney Anatomy 0.000 description 1
231100000518 lethal Toxicity 0.000 description 1
230000001665 lethal effect Effects 0.000 description 1
229960004502 levodopa Drugs 0.000 description 1
210000004185 liver Anatomy 0.000 description 1
208000004731 long QT syndrome Diseases 0.000 description 1
201000006908 long QT syndrome 1 Diseases 0.000 description 1
201000006905 long QT syndrome 2 Diseases 0.000 description 1
201000006903 long QT syndrome 3 Diseases 0.000 description 1
208000002501 long QT syndrome 6 Diseases 0.000 description 1
208000026807 lung carcinoid tumor Diseases 0.000 description 1
230000004199 lung function Effects 0.000 description 1
208000002502 lymphedema Diseases 0.000 description 1
238000004519 manufacturing process Methods 0.000 description 1
208000005548 medium chain acyl-CoA dehydrogenase deficiency Diseases 0.000 description 1
230000021121 meiosis Effects 0.000 description 1
230000003340 mental effect Effects 0.000 description 1
229960001428 mercaptopurine Drugs 0.000 description 1
230000009401 metastasis Effects 0.000 description 1
239000011707 mineral Substances 0.000 description 1
235000010755 mineral Nutrition 0.000 description 1
230000004048 modification Effects 0.000 description 1
238000012986 modification Methods 0.000 description 1
201000002633 multiple epiphyseal dysplasia 4 Diseases 0.000 description 1
NFVJNJQRWPQVOA-UHFFFAOYSA-N n-[2-chloro-5-(trifluoromethyl)phenyl]-2-[3-(4-ethyl-5-ethylsulfanyl-1,2,4-triazol-3-yl)piperidin-1-yl]acetamide Chemical compound CCN1C(SCC)=NN=C1C1CN(CC(=O)NC=2C(=CC=C(C=2)C(F)(F)F)Cl)CCC1 NFVJNJQRWPQVOA-UHFFFAOYSA-N 0.000 description 1
101150036168 ncstn gene Proteins 0.000 description 1
239000013642 negative control Substances 0.000 description 1
230000009826 neoplastic cell growth Effects 0.000 description 1
201000008026 nephroblastoma Diseases 0.000 description 1
238000007857 nested PCR Methods 0.000 description 1
208000007431 neuroacanthocytosis Diseases 0.000 description 1
208000025974 neutral lipid storage disease Diseases 0.000 description 1
102000046701 nicastrin Human genes 0.000 description 1
108700022821 nicastrin Proteins 0.000 description 1
230000000422 nocturnal effect Effects 0.000 description 1
108091027963 non-coding RNA Proteins 0.000 description 1
102000042567 non-coding RNA Human genes 0.000 description 1
208000024701 non-syndromic X-linked intellectual disability 19 Diseases 0.000 description 1
238000010606 normalization Methods 0.000 description 1
201000006352 oculocerebrorenal syndrome Diseases 0.000 description 1
108010007425 oligomycin sensitivity conferring protein Proteins 0.000 description 1
230000003287 optical effect Effects 0.000 description 1
201000002044 ossification of the posterior longitudinal ligament of spine Diseases 0.000 description 1
208000001040 ossification of the posterior longitudinal ligament of the spine Diseases 0.000 description 1
201000001937 osteoporosis-pseudoglioma syndrome Diseases 0.000 description 1
230000010627 oxidative phosphorylation Effects 0.000 description 1
GTUJJVSZIHQLHA-XPWFQUROSA-N pApA Chemical compound C1=NC2=C(N)N=CN=C2N1[C@@H]([C@@H]1O)O[C@H](COP(O)(O)=O)[C@H]1OP(O)(=O)OC[C@H]([C@@H](O)[C@H]1O)O[C@H]1N1C(N=CN=C2N)=C2N=C1 GTUJJVSZIHQLHA-XPWFQUROSA-N 0.000 description 1
201000008743 palmoplantar keratosis Diseases 0.000 description 1
102000045222 parkin Human genes 0.000 description 1
101150063226 parp-1 gene Proteins 0.000 description 1
208000008494 pericarditis Diseases 0.000 description 1
108010049224 perlecan Proteins 0.000 description 1
238000002823 phage display Methods 0.000 description 1
230000000144 pharmacologic effect Effects 0.000 description 1
108010034343 phosphoribosylamine-glycine ligase Proteins 0.000 description 1
208000001095 pilomatrixoma Diseases 0.000 description 1
230000001402 polyadenylating effect Effects 0.000 description 1
229920001184 polypeptide Polymers 0.000 description 1
201000006896 posterior polar cataract Diseases 0.000 description 1
230000035935 pregnancy Effects 0.000 description 1
201000005912 primary ciliary dyskinesia 1 Diseases 0.000 description 1
201000005881 primary ciliary dyskinesia 3 Diseases 0.000 description 1
208000018290 primary dysautonomia Diseases 0.000 description 1
108090000765 processed proteins & peptides Proteins 0.000 description 1
102000004196 processed proteins & peptides Human genes 0.000 description 1
208000036867 progressive familial intrahepatic 4 cholestasis Diseases 0.000 description 1
201000002147 progressive familial intrahepatic cholestasis 4 Diseases 0.000 description 1
102000016670 prohibitin Human genes 0.000 description 1
108010028138 prohibitin Proteins 0.000 description 1
230000000135 prohibitive effect Effects 0.000 description 1
GPTFURBXHJWNHR-UHFFFAOYSA-N protopine Chemical compound C1=C2C(=O)CC3=CC=C4OCOC4=C3CN(C)CCC2=CC2=C1OCO2 GPTFURBXHJWNHR-UHFFFAOYSA-N 0.000 description 1
208000018065 pseudohypoparathyroidism type 1A Diseases 0.000 description 1
238000000746 purification Methods 0.000 description 1
230000009711 regulatory function Effects 0.000 description 1
210000001525 retina Anatomy 0.000 description 1
201000010680 retinitis pigmentosa 19 Diseases 0.000 description 1
101150091950 retn gene Proteins 0.000 description 1
210000003079 salivary gland Anatomy 0.000 description 1
201000000980 schizophrenia Diseases 0.000 description 1
230000035939 shock Effects 0.000 description 1
238000002741 site-directed mutagenesis Methods 0.000 description 1
239000007787 solid Substances 0.000 description 1
208000012141 solitary median maxillary central incisor Diseases 0.000 description 1
208000011626 solitary median maxillary central incisor syndrome Diseases 0.000 description 1
230000009870 specific binding Effects 0.000 description 1
201000003251 split hand-foot malformation Diseases 0.000 description 1
230000002269 spontaneous effect Effects 0.000 description 1
238000012453 sprague-dawley rat model Methods 0.000 description 1
238000010561 standard procedure Methods 0.000 description 1
210000001050 stape Anatomy 0.000 description 1
108010068815 steroid hormone 7-alpha-hydroxylase Proteins 0.000 description 1
230000010009 steroidogenesis Effects 0.000 description 1
230000002739 subcortical effect Effects 0.000 description 1
239000000126 substance Substances 0.000 description 1
208000034416 susceptibility to 2 dyslexia Diseases 0.000 description 1
230000006794 tachycardia Effects 0.000 description 1
108010059434 tapasin Proteins 0.000 description 1
230000008685 targeting Effects 0.000 description 1
108010026424 tau Proteins Proteins 0.000 description 1
208000002807 taurodontism Diseases 0.000 description 1
WWJZWCUNLNYYAU-UHFFFAOYSA-N temephos Chemical compound C1=CC(OP(=S)(OC)OC)=CC=C1SC1=CC=C(OP(=S)(OC)OC)C=C1 WWJZWCUNLNYYAU-UHFFFAOYSA-N 0.000 description 1
108010020352 tenascin X Proteins 0.000 description 1
206010043554 thrombocytopenia Diseases 0.000 description 1
230000001988 toxicity Effects 0.000 description 1
231100000419 toxicity Toxicity 0.000 description 1
238000013519 translation Methods 0.000 description 1
230000005945 translocation Effects 0.000 description 1
238000011282 treatment Methods 0.000 description 1
QORWJWZARLRLPR-UHFFFAOYSA-H tricalcium bis(phosphate) Chemical compound [Ca+2].[Ca+2].[Ca+2].[O-]P([O-])([O-])=O.[O-]P([O-])([O-])=O QORWJWZARLRLPR-UHFFFAOYSA-H 0.000 description 1
230000005740 tumor formation Effects 0.000 description 1
238000010396 two-hybrid screening Methods 0.000 description 1
210000004291 uterus Anatomy 0.000 description 1
238000010200 validation analysis Methods 0.000 description 1
230000002792 vascular Effects 0.000 description 1
210000002845 virion Anatomy 0.000 description 1
239000000277 virosome Substances 0.000 description 1
201000006869 visceral heterotaxy Diseases 0.000 description 1
108020001588 κ-opioid receptors Proteins 0.000 description 1