genetic disease Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A disease that has_material_basis_in genetic variations in the human genome. (Human Disease Ontology, DOID_630)
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Genes

360 genes involed in the disease genetic disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
AAAS achalasia, adrenocortical insufficiency, alacrimia
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ACAT1 acetyl-CoA acetyltransferase 1
ACP6 acid phosphatase 6, lysophosphatidic
ACSL4 acyl-CoA synthetase long-chain family member 4
ACTC1 actin, alpha, cardiac muscle 1
ACTN2 actinin, alpha 2
ACVRL1 activin A receptor type II-like 1
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADAR adenosine deaminase, RNA-specific
ADGRV1 adhesion G protein-coupled receptor V1
AGPS alkylglycerone phosphate synthase
AKAP9 A kinase (PRKA) anchor protein 9
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
ALMS1 Alstrom syndrome protein 1
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALOXE3 arachidonate lipoxygenase 3
ALPL alkaline phosphatase, liver/bone/kidney
ANK2 ankyrin 2, neuronal
ANKS6 ankyrin repeat and sterile alpha motif domain containing 6
ANOS1 anosmin 1
AP3B1 adaptor-related protein complex 3, beta 1 subunit
APC adenomatous polyposis coli
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ARL6 ADP-ribosylation factor-like 6
ARMC4 armadillo repeat containing 4
ATM ATM serine/threonine kinase
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BBS1 Bardet-Biedl syndrome 1
BBS10 Bardet-Biedl syndrome 10
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BBS7 Bardet-Biedl syndrome 7
BBS9 Bardet-Biedl syndrome 9
BCL9 B-cell CLL/lymphoma 9
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BDNF brain-derived neurotrophic factor
BLM Bloom syndrome, RecQ helicase-like
BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit 3
BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
BRAF B-Raf proto-oncogene, serine/threonine kinase
C21ORF59 chromosome 21 open reading frame 59
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1
CALR3 calreticulin 3
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CAV3 caveolin 3
CCDC103 coiled-coil domain containing 103
CCDC114 coiled-coil domain containing 114
CCDC28B coiled-coil domain containing 28B
CCDC39 coiled-coil domain containing 39
CCDC40 coiled-coil domain containing 40
CCDC65 coiled-coil domain containing 65
CCNO cyclin O
CDH23 cadherin-related 23
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CDKN2A cyclin-dependent kinase inhibitor 2A
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CEP164 centrosomal protein 164kDa
CEP290 centrosomal protein 290kDa
CEP83 centrosomal protein 83kDa
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHD1L chromodomain helicase DNA binding protein 1-like
CHD7 chromodomain helicase DNA binding protein 7
CHEK2 checkpoint kinase 2
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CISD2 CDGSH iron sulfur domain 2
CLRN1 clarin 1
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
COL3A1 collagen, type III, alpha 1
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)
COL4A4 collagen, type IV, alpha 4
COL4A5 collagen, type IV, alpha 5
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
COL9A1 collagen, type IX, alpha 1
COL9A2 collagen, type IX, alpha 2
COMT catechol-O-methyltransferase
CREBBP CREB binding protein
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
CTNND2 catenin (cadherin-associated protein), delta 2
CYLD cylindromatosis (turban tumor syndrome)
CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22
DDB2 damage-specific DNA binding protein 2, 48kDa
DNAAF1 dynein, axonemal, assembly factor 1
DNAAF2 dynein, axonemal, assembly factor 2
DNAAF3 dynein, axonemal, assembly factor 3
DNAAF5 dynein, axonemal, assembly factor 5
DNAH11 dynein, axonemal, heavy chain 11
DNAH5 dynein, axonemal, heavy chain 5
DNAH8 dynein, axonemal, heavy chain 8
DNAI1 dynein, axonemal, intermediate chain 1
DNAI2 dynein, axonemal, intermediate chain 2
DNAL1 dynein, axonemal, light chain 1
DRC1 dynein regulatory complex subunit 1
DSE dermatan sulfate epimerase
DSG4 desmoglein 4
DTNBP1 dystrobrevin binding protein 1
DUSP6 dual specificity phosphatase 6
DYX1C1 dyslexia susceptibility 1 candidate 1
EDA ectodysplasin A
EDAR ectodysplasin A receptor
EDARADD EDAR-associated death domain
EDN3 endothelin 3
EDNRB endothelin receptor type B
ENG endoglin
EP300 E1A binding protein p300
EPCAM epithelial cell adhesion molecule
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
ERCC4 excision repair cross-complementation group 4
ERCC5 excision repair cross-complementation group 5
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EYA1 EYA transcriptional coactivator and phosphatase 1
F2 coagulation factor II (thrombin)
FBN1 fibrillin 1
FGA fibrinogen alpha chain
FGB fibrinogen beta chain
FGD1 FYVE, RhoGEF and PH domain containing 1
FGF10 fibroblast growth factor 10
FGF17 fibroblast growth factor 17
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FGG fibrinogen gamma chain
FKBP14 FK506 binding protein 14, 22 kDa
FLCN folliculin
FLNA filamin A, alpha
FLNB filamin B, beta
FLRT3 fibronectin leucine rich transmembrane protein 3
FMO5 flavin containing monooxygenase 5
FMR1 fragile X mental retardation 1
FOXC1 forkhead box C1
FOXL2 forkhead box L2
GJA5 gap junction protein, alpha 5, 40kDa
GJA8 gap junction protein, alpha 8, 50kDa
GJB2 gap junction protein, beta 2, 26kDa
GJB6 gap junction protein, beta 6, 30kDa
GLIS2 GLIS family zinc finger 2
GNAS GNAS complex locus
GNPAT glyceronephosphate O-acyltransferase
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
GNRHR gonadotropin-releasing hormone receptor
GPR89B G protein-coupled receptor 89B
GTF2H5 general transcription factor IIH, polypeptide 5
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HBB hemoglobin, beta
HPS1 Hermansky-Pudlak syndrome 1
HPS3 Hermansky-Pudlak syndrome 3
HPS4 Hermansky-Pudlak syndrome 4
HPS5 Hermansky-Pudlak syndrome 5
HPS6 Hermansky-Pudlak syndrome 6
HRAS Harvey rat sarcoma viral oncogene homolog
HS6ST1 heparan sulfate 6-O-sulfotransferase 1
HTT huntingtin
HYDIN HYDIN, axonemal central pair apparatus protein
IFIH1 interferon induced with helicase C domain 1
IFT122 intraflagellar transport 122
IFT27 intraflagellar transport 27
IFT80 intraflagellar transport 80
IGF2 insulin-like growth factor 2
IL17RD interleukin 17 receptor D
INVS inversin
IQCB1 IQ motif containing B1
JPH2 junctophilin 2
KCNE1 potassium channel, voltage gated subfamily E regulatory beta subunit 1
KCNE2 potassium channel, voltage gated subfamily E regulatory beta subunit 2
KCNE5 potassium channel, voltage gated subfamily E regulatory beta subunit 5
KCNH2 potassium channel, voltage gated eag related subfamily H, member 2
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KCNJ5 potassium channel, inwardly rectifying subfamily J, member 5
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KIF7 kinesin family member 7
KISS1 KiSS-1 metastasis-suppressor
KISS1R KISS1 receptor
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT16 keratin 16, type I
KRT17 keratin 17, type I
KRT6A keratin 6A, type II
KRT6B keratin 6B, type II
KRT81 keratin 81, type II
KRT83 keratin 83, type II
KRT86 keratin 86, type II
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LIMK1 LIM domain kinase 1
LMNA lamin A/C
LMX1B LIM homeobox transcription factor 1, beta
LRRC6 leucine rich repeat containing 6
LYST lysosomal trafficking regulator
LZTFL1 leucine zipper transcription factor-like 1
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MED12 mediator complex subunit 12
MITF microphthalmia-associated transcription factor
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MLH1 mutL homolog 1
MLH3 mutL homolog 3
MSH2 mutS homolog 2
MSH6 mutS homolog 6
MSX1 msh homeobox 1
MUTYH mutY homolog
MYBPC3 myosin binding protein C, cardiac
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYH9 myosin, heavy chain 9, non-muscle
MYL2 myosin, light chain 2, regulatory, cardiac, slow
MYL3 myosin, light chain 3, alkali; ventricular, skeletal, slow
MYO7A myosin VIIA
MYOZ2 myozenin 2
NBN nibrin
NEK8 NIMA-related kinase 8
NEXN nexilin (F actin binding protein)
NF1 neurofibromin 1
NF2 neurofibromin 2 (merlin)
NIPAL4 NIPA-like domain containing 4
NIPBL Nipped-B homolog (Drosophila)
NME8 NME/NM23 family member 8
NOD2 nucleotide-binding oligomerization domain containing 2
NPHP1 nephronophthisis 1 (juvenile)
NPHP3 nephronophthisis 3 (adolescent)
NPHP4 nephronophthisis 4
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor
OCA2 oculocutaneous albinism II
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
PAX3 paired box 3
PAX6 paired box 6
PCDH15 protocadherin-related 15
PEX7 peroxisomal biogenesis factor 7
PITX2 paired-like homeodomain 2
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKD2 polycystic kidney disease 2 (autosomal dominant)
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
PLN phospholamban
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PNPLA6 patatin-like phospholipase domain containing 6
POLH polymerase (DNA directed), eta
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
POR P450 (cytochrome) oxidoreductase
PORCN porcupine homolog (Drosophila)
PRKAB2 protein kinase, AMP-activated, beta 2 non-catalytic subunit
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PTCH1 patched 1
PTEN phosphatase and tensin homolog
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RBM8A RNA binding motif protein 8A
RECQL4 RecQ protein-like 4
RNASEH2A ribonuclease H2, subunit A
RNASEH2B ribonuclease H2, subunit B
RNASEH2C ribonuclease H2, subunit C
RNF216 ring finger protein 216
RPGR retinitis pigmentosa GTPase regulator
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RSPH1 radial spoke head 1 homolog (Chlamydomonas)
RSPH4A radial spoke head 4 homolog A (Chlamydomonas)
RSPH9 radial spoke head 9 homolog (Chlamydomonas)
RYR1 ryanodine receptor 1 (skeletal)
SAMHD1 SAM domain and HD domain 1
SCN4B sodium channel, voltage gated, type IV beta subunit
SCN5A sodium channel, voltage gated, type V alpha subunit
SDCCAG8 serologically defined colon cancer antigen 8
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SH3BP2 SH3-domain binding protein 2
SHOX short stature homeobox
SIX1 SIX homeobox 1
SIX5 SIX homeobox 5
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SLC45A2 solute carrier family 45, member 2
SMAD3 SMAD family member 3
SMAD4 SMAD family member 4
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SNAI2 snail family zinc finger 2
SNTA1 syntrophin, alpha 1
SOS1 son of sevenless homolog 1 (Drosophila)
SOX10 SRY (sex determining region Y)-box 10
SPAG1 sperm associated antigen 1
SPINK5 serine peptidase inhibitor, Kazal type 5
SPRY4 sprouty homolog 4 (Drosophila)
TAC3 tachykinin 3
TACR3 tachykinin receptor 3
TAZ tafazzin
TBX1 T-box 1
TCAP titin-cap
TCOF1 Treacher Collins-Franceschetti syndrome 1
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFB2 transforming growth factor, beta 2
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TGM1 transglutaminase 1
TMEM67 transmembrane protein 67
TNNI3 troponin I type 3 (cardiac)
TNNT2 troponin T type 2 (cardiac)
TNXB tenascin XB
TP53 tumor protein p53
TPM1 tropomyosin 1 (alpha)
TREX1 three prime repair exonuclease 1
TRIM32 tripartite motif containing 32
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TTC21B tetratricopeptide repeat domain 21B
TTC8 tetratricopeptide repeat domain 8
TTN titin
TYR tyrosinase
TYRP1 tyrosinase-related protein 1
UBE3A ubiquitin protein ligase E3A
UMOD uromodulin
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
USH1C Usher syndrome 1C (autosomal recessive, severe)
USH1G Usher syndrome 1G (autosomal recessive)
USH2A Usher syndrome 2A (autosomal recessive, mild)
VCL vinculin
WAS Wiskott-Aldrich syndrome
WDPCP WD repeat containing planar cell polarity effector
WDR11 WD repeat domain 11
WDR19 WD repeat domain 19
WDR35 WD repeat domain 35
WFS1 Wolfram syndrome 1 (wolframin)
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WRN Werner syndrome, RecQ helicase-like
WT1 Wilms tumor 1
XPA xeroderma pigmentosum, complementation group A
XPC xeroderma pigmentosum, complementation group C
XPNPEP3 X-prolyl aminopeptidase 3, mitochondrial
ZMYND10 zinc finger, MYND-type containing 10
ZNF169 zinc finger protein 169
ZNF423 zinc finger protein 423