genetic disease Gene Set

Dataset GWASdb SNP-Disease Associations
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)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/DOID:630
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Genes

235 genes associated with the disease genetic disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

Symbol Name Standardized Value
F7 coagulation factor VII (serum prothrombin conversion accelerator) 2.41089
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) 1.69467
IRF4 interferon regulatory factor 4 1.65838
ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) 1.62517
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae) 1.58952
F10 coagulation factor X 1.55104
SURF4 surfeit 4 1.50171
BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) 1.47415
OR51B5 olfactory receptor, family 51, subfamily B, member 5 1.39151
FANCA Fanconi anemia, complementation group A 1.38677
HBB hemoglobin, beta 1.19904
NOS1AP nitric oxide synthase 1 (neuronal) adaptor protein 1.11745
HNF4A hepatocyte nuclear factor 4, alpha 0.882888
UBQLNL ubiquilin-like 0.854163
PROCR protein C receptor, endothelial 0.814829
HBG1 hemoglobin, gamma A 0.793714
GCKR glucokinase (hexokinase 4) regulator 0.577514
OR51F1 olfactory receptor, family 51, subfamily F, member 1 (gene/pseudogene) 0.575477
CNOT1 CCR4-NOT transcription complex, subunit 1 0.505174
UGT1A10 UDP glucuronosyltransferase 1 family, polypeptide A10 0.501375
OR52I2 olfactory receptor, family 52, subfamily I, member 2 0.491329
CEP85L centrosomal protein 85kDa-like 0.477101
VWF von Willebrand factor 0.467827
CSNK2A1 casein kinase 2, alpha 1 polypeptide 0.458283
OR51E2 olfactory receptor, family 51, subfamily E, member 2 0.453875
OR51I1 olfactory receptor, family 51, subfamily I, member 1 0.444603
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1 0.443904
RNF207 ring finger protein 207 0.438494
RRM1 ribonucleotide reductase M1 0.436558
STIM1 stromal interaction molecule 1 0.43296
OR51B6 olfactory receptor, family 51, subfamily B, member 6 0.429221
ATP1B1 ATPase, Na+/K+ transporting, beta 1 polypeptide 0.428339
HBBP1 hemoglobin, beta pseudogene 1 0.423411
PCIF1 PDX1 C-terminal inhibiting factor 1 0.4217
NAP1L4 nucleosome assembly protein 1-like 4 0.419975
SCN5A sodium channel, voltage gated, type V alpha subunit 0.41791
CSMD1 CUB and Sushi multiple domains 1 0.412508
EIF6 eukaryotic translation initiation factor 6 0.409722
HBZ hemoglobin, zeta 0.402938
SYT9 synaptotagmin IX 0.39818
CT83 cancer/testis antigen 83 0.39188
LIG3 ligase III, DNA, ATP-dependent 0.379835
TYR tyrosinase 0.371287
SURF2 surfeit 2 0.369114
EPB41L4A erythrocyte membrane protein band 4.1 like 4A 0.366992
WWOX WW domain containing oxidoreductase 0.366055
NRP1 neuropilin 1 0.351057
BNC2 basonuclin 2 0.348788
SOX5 SRY (sex determining region Y)-box 5 0.33411
APOA5 apolipoprotein A-V 0.32908
AKAP6 A kinase (PRKA) anchor protein 6 0.326726
RYR1 ryanodine receptor 1 (skeletal) 0.320318
SLC26A9 solute carrier family 26 (anion exchanger), member 9 0.315575
COL17A1 collagen, type XVII, alpha 1 0.313341
OTUD3 OTU deubiquitinase 3 0.310921
FADS1 fatty acid desaturase 1 0.305558
ESRRG estrogen-related receptor gamma 0.29564
LMNTD2 lamin tail domain containing 2 0.284003
ZPR1 ZPR1 zinc finger 0.283548
RFX3 regulatory factor X, 3 (influences HLA class II expression) 0.281518
PRKCQ protein kinase C, theta 0.280212
C18ORF21 chromosome 18 open reading frame 21 0.27867
TCL6 T-cell leukemia/lymphoma 6 (non-protein coding) 0.275585
DPT dermatopontin 0.275071
TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box) 0.27308
BUD13 BUD13 homolog (S. cerevisiae) 0.271985
ARHGAP10 Rho GTPase activating protein 10 0.270974
RAF1 Raf-1 proto-oncogene, serine/threonine kinase 0.270974
TMEM44 transmembrane protein 44 0.270974
PTPRG protein tyrosine phosphatase, receptor type, G 0.269157
FGF1 fibroblast growth factor 1 (acidic) 0.269157
ADGRL3 adhesion G protein-coupled receptor L3 0.267865
RPRD1A regulation of nuclear pre-mRNA domain containing 1A 0.266973
PDE3A phosphodiesterase 3A, cGMP-inhibited 0.266139
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4 0.266139
MCC mutated in colorectal cancers 0.266139
CDH9 cadherin 9, type 2 (T1-cadherin) 0.264856
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1 0.263688
NCKAP1L NCK-associated protein 1-like 0.260706
CNKSR3 CNKSR family member 3 0.257774
CLDN15 claudin 15 0.256658
TRPM7 transient receptor potential cation channel, subfamily M, member 7 0.256658
ELMO1 engulfment and cell motility 1 0.256658
IL5RA interleukin 5 receptor, alpha 0.256658
AGTR2 angiotensin II receptor, type 2 0.256658
ASIC2 acid sensing (proton gated) ion channel 2 0.256658
TTN titin 0.256658
LDLRAD3 low density lipoprotein receptor class A domain containing 3 0.255982
ZBED9 zinc finger, BED-type containing 9 0.255407
EXT1 exostosin glycosyltransferase 1 0.25213
PAIP2B poly(A) binding protein interacting protein 2B 0.251739
OSBPL6 oxysterol binding protein-like 6 0.250475
KCNH2 potassium channel, voltage gated eag related subfamily H, member 2 0.250475
PHEX phosphate regulating endopeptidase homolog, X-linked 0.250475
STAB2 stabilin 2 0.250475
ST6GALNAC3 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 0.249265
ZNF204P zinc finger protein 204, pseudogene 0.248364
RBMS3 RNA binding motif, single stranded interacting protein 3 0.247807
PHACTR1 phosphatase and actin regulator 1 0.247682
HYKK hydroxylysine kinase 0.247393
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) 0.246637
FBXL18 F-box and leucine-rich repeat protein 18 0.246482
IFRD1 interferon-related developmental regulator 1 0.246141
PDZRN3 PDZ domain containing ring finger 3 0.246141
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 0.246141
AHRR aryl-hydrocarbon receptor repressor 0.246141
CNTNAP2 contactin associated protein-like 2 0.246141
CCND2 cyclin D2 0.246141
DYSF dysferlin 0.24541
CDH26 cadherin 26 0.244051
ANKRD6 ankyrin repeat domain 6 0.242809
CLEC12B C-type lectin domain family 12, member B 0.242809
PHF11 PHD finger protein 11 0.242809
CLDN14 claudin 14 0.242809
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2 0.242255
HK2 hexokinase 2 0.240304
CDH2 cadherin 2, type 1, N-cadherin (neuronal) 0.240105
FOXP1 forkhead box P1 0.240105
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4 0.240105
CAMK1D calcium/calmodulin-dependent protein kinase ID 0.240105
SCN11A sodium channel, voltage gated, type XI alpha subunit 0.239885
LDB2 LIM domain binding 2 0.237833
THRB thyroid hormone receptor, beta 0.237833
NLGN4X neuroligin 4, X-linked 0.236282
MARCH1 membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase 0.236076
ADAMTSL1 ADAMTS-like 1 0.235873
GNAL guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type 0.235873
SLC8A3 solute carrier family 8 (sodium/calcium exchanger), member 3 0.235873
PLEKHG1 pleckstrin homology domain containing, family G (with RhoGef domain) member 1 0.235873
ROS1 ROS proto-oncogene 1 , receptor tyrosine kinase 0.235873
FGF14 fibroblast growth factor 14 0.235873
PRKCE protein kinase C, epsilon 0.235873
VAV2 vav 2 guanine nucleotide exchange factor 0.235873
TDP2 tyrosyl-DNA phosphodiesterase 2 0.234152
MBP myelin basic protein 0.234152
CREBBP CREB binding protein 0.234152
SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 0.233152
BMPR1A bone morphogenetic protein receptor, type IA 0.232957
NME7 NME/NM23 family member 7 0.232853
NUAK1 NUAK family, SNF1-like kinase, 1 0.232838
MAP2K5 mitogen-activated protein kinase kinase 5 0.23278
DNAJC7 DnaJ (Hsp40) homolog, subfamily C, member 7 0.232765
UNC13C unc-13 homolog C (C. elegans) 0.232736
SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 0.232619
IL17RD interleukin 17 receptor D 0.232619
FRMD6 FERM domain containing 6 0.232619
SHISA9 shisa family member 9 0.23191
DSCAM Down syndrome cell adhesion molecule 0.231502
TMEM233 transmembrane protein 233 0.230343
ARMC2 armadillo repeat containing 2 0.230099
NCOA2 nuclear receptor coactivator 2 0.229581
SYCE3 synaptonemal complex central element protein 3 0.228712
PRMT8 protein arginine methyltransferase 8 0.228592
NCAM2 neural cell adhesion molecule 2 0.228006
ARHGEF3 Rho guanine nucleotide exchange factor (GEF) 3 0.227004
CNTN4 contactin 4 0.225864
APCDD1L adenomatosis polyposis coli down-regulated 1-like 0.225567
SPRED3 sprouty-related, EVH1 domain containing 3 0.22547
SNX29 sorting nexin 29 0.224078
CTNNA3 catenin (cadherin-associated protein), alpha 3 0.223385
DRD2 dopamine receptor D2 0.222562
CDH13 cadherin 13 0.222167
KCNB2 potassium channel, voltage gated Shab related subfamily B, member 2 0.222012
PPAP2B phosphatidic acid phosphatase type 2B 0.221858
MED27 mediator complex subunit 27 0.220613
ESR1 estrogen receptor 1 0.220543
NKX2-5 NK2 homeobox 5 0.220061
PAX8 paired box 8 0.219727
ASUN asunder spermatogenesis regulator 0.219271
USP43 ubiquitin specific peptidase 43 0.219079
CALCR calcitonin receptor 0.21889
RAD51B RAD51 paralog B 0.216686
SVIL supervillin 0.216526
DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase) 0.216314
DAB1 Dab, reelin signal transducer, homolog 1 (Drosophila) 0.215202
SCARA3 scavenger receptor class A, member 3 0.214582
DPYD dihydropyrimidine dehydrogenase 0.213459
SLC24A2 solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 0.213372
RNF220 ring finger protein 220 0.213244
JAKMIP1 janus kinase and microtubule interacting protein 1 0.213033
KLHL33 kelch-like family member 33 0.212537
AJAP1 adherens junctions associated protein 1 0.212256
NRG1 neuregulin 1 0.210852
SLC35F3 solute carrier family 35, member F3 0.21053
PACSIN1 protein kinase C and casein kinase substrate in neurons 1 0.21046
MCTP2 multiple C2 domains, transmembrane 2 0.21025
UROC1 urocanate hydratase 1 0.209705
SEZ6L seizure related 6 homolog (mouse)-like 0.209705
LOC145845 uncharacterized LOC145845 0.209572
CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 0.208861
C16ORF45 chromosome 16 open reading frame 45 0.208549
NELL1 NEL-like 1 (chicken) 0.208365
C14ORF132 chromosome 14 open reading frame 132 0.208335
CDKN2B-AS1 CDKN2B antisense RNA 1 0.208094
ROBO2 roundabout, axon guidance receptor, homolog 2 (Drosophila) 0.208034
PPP6R1 protein phosphatase 6, regulatory subunit 1 0.207857
XDH xanthine dehydrogenase 0.207566
LOC643542 uncharacterized LOC643542 0.207168
CHN2 chimerin 2 0.20678
PPARD peroxisome proliferator-activated receptor delta 0.206537
EPHB2 EPH receptor B2 0.206218
KCNK1 potassium channel, two pore domain subfamily K, member 1 0.20601
ERBB4 erb-b2 receptor tyrosine kinase 4 0.205958
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific) 0.205229
ACAN aggrecan 0.203741
TUSC3 tumor suppressor candidate 3 0.203697
CDHR5 cadherin-related family member 5 0.203522
MPZL1 myelin protein zero-like 1 0.20337
C11ORF44 chromosome 11 open reading frame 44 0.20303
SPATA17 spermatogenesis associated 17 0.202863
LHFPL3 lipoma HMGIC fusion partner-like 3 0.201938
RASSF8 Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 0.201497
CDH18 cadherin 18, type 2 0.20099
TMEM258 transmembrane protein 258 0.200558
GLRX3 glutaredoxin 3 0.19995
PSORS1C3 psoriasis susceptibility 1 candidate 3 (non-protein coding) 0.199582
DCDC2 doublecortin domain containing 2 0.198562
COL25A1 collagen, type XXV, alpha 1 0.198292
KCNIP4 Kv channel interacting protein 4 0.19801
FHIT fragile histidine triad 0.197928
LIN7A lin-7 homolog A (C. elegans) 0.197782
FADS2 fatty acid desaturase 2 0.197573
CORIN corin, serine peptidase 0.197383
C11ORF21 chromosome 11 open reading frame 21 0.192556
USP31 ubiquitin specific peptidase 31 0.191991
TCEA3 transcription elongation factor A (SII), 3 0.189732
LPP LIM domain containing preferred translocation partner in lipoma 0.188897
CDKAL1 CDK5 regulatory subunit associated protein 1-like 1 0.186639
TGFBR3 transforming growth factor, beta receptor III 0.183498
SLC6A5 solute carrier family 6 (neurotransmitter transporter), member 5 0.176583
SLC9A9 solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 0.171732
BMP6 bone morphogenetic protein 6 0.171252
ASTN1 astrotactin 1 0.17105
NFATC2 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 0.169121
LYRM4 LYR motif containing 4 0.167492