autosomal genetic disease Gene Set

Dataset GWASdb SNP-Disease Associations
Category disease or phenotype associations
Type disease
Description A monogenic disease that is caused by a mutation in a single gene on one of the non-sex chromosomes. (Human Disease Ontology, DOID_0050739)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/DOID:0050739
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Genes

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

Symbol Name Standardized Value
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) 1.8787
IRF4 interferon regulatory factor 4 1.83877
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae) 1.7695
BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) 1.66138
OR51B5 olfactory receptor, family 51, subfamily B, member 5 1.59205
FANCA Fanconi anemia, complementation group A 1.58846
HBB hemoglobin, beta 1.42913
NOS1AP nitric oxide synthase 1 (neuronal) adaptor protein 1.36101
UBQLNL ubiquilin-like 1.21706
HBG1 hemoglobin, gamma A 1.17223
OR51F1 olfactory receptor, family 51, subfamily F, member 1 (gene/pseudogene) 0.856915
CNOT1 CCR4-NOT transcription complex, subunit 1 0.69468
UGT1A10 UDP glucuronosyltransferase 1 family, polypeptide A10 0.68332
OR52I2 olfactory receptor, family 52, subfamily I, member 2 0.653739
CEP85L centrosomal protein 85kDa-like 0.590909
CSNK2A1 casein kinase 2, alpha 1 polypeptide 0.498774
OR51E2 olfactory receptor, family 51, subfamily E, member 2 0.489747
OR51I1 olfactory receptor, family 51, subfamily I, member 1 0.481178
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1 0.480715
RNF207 ring finger protein 207 0.477278
RRM1 ribonucleotide reductase M1 0.475917
STIM1 stromal interaction molecule 1 0.473364
OR51B6 olfactory receptor, family 51, subfamily B, member 6 0.470562
ATP1B1 ATPase, Na+/K+ transporting, beta 1 polypeptide 0.469897
HBBP1 hemoglobin, beta pseudogene 1 0.466236
PCIF1 PDX1 C-terminal inhibiting factor 1 0.46498
NAP1L4 nucleosome assembly protein 1-like 4 0.463712
SCN5A sodium channel, voltage gated, type V alpha subunit 0.461977
CSMD1 CUB and Sushi multiple domains 1 0.457842
EIF6 eukaryotic translation initiation factor 6 0.455195
HBZ hemoglobin, zeta 0.448983
SYT9 synaptotagmin IX 0.444208
CT83 cancer/testis antigen 83 0.438375
LIG3 ligase III, DNA, ATP-dependent 0.427965
TYR tyrosinase 0.420692
WWOX WW domain containing oxidoreductase 0.416203
NRP1 neuropilin 1 0.401912
BNC2 basonuclin 2 0.399703
SOX5 SRY (sex determining region Y)-box 5 0.384821
AKAP6 A kinase (PRKA) anchor protein 6 0.37689
RYR1 ryanodine receptor 1 (skeletal) 0.370753
SLC26A9 solute carrier family 26 (anion exchanger), member 9 0.366142
COL17A1 collagen, type XVII, alpha 1 0.363971
OTUD3 OTU deubiquitinase 3 0.361618
FADS1 fatty acid desaturase 1 0.356458
ESRRG estrogen-related receptor gamma 0.347621
LMNTD2 lamin tail domain containing 2 0.336355
RFX3 regulatory factor X, 3 (influences HLA class II expression) 0.33423
C18ORF21 chromosome 18 open reading frame 21 0.331793
TCL6 T-cell leukemia/lymphoma 6 (non-protein coding) 0.32915
DPT dermatopontin 0.328709
TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box) 0.327002
TMEM44 transmembrane protein 44 0.325172
ARHGAP10 Rho GTPase activating protein 10 0.325172
RAF1 Raf-1 proto-oncogene, serine/threonine kinase 0.325172
PTPRG protein tyrosine phosphatase, receptor type, G 0.323348
FGF1 fibroblast growth factor 1 (acidic) 0.323348
ADGRL3 adhesion G protein-coupled receptor L3 0.322052
RPRD1A regulation of nuclear pre-mRNA domain containing 1A 0.321157
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4 0.320318
PDE3A phosphodiesterase 3A, cGMP-inhibited 0.320318
MCC mutated in colorectal cancers 0.320318
CDH9 cadherin 9, type 2 (T1-cadherin) 0.319031
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1 0.317859
NCKAP1L NCK-associated protein 1-like 0.314867
CNKSR3 CNKSR family member 3 0.312002
TRPM7 transient receptor potential cation channel, subfamily M, member 7 0.31104
ELMO1 engulfment and cell motility 1 0.31104
IL5RA interleukin 5 receptor, alpha 0.31104
CLDN15 claudin 15 0.31104
TTN titin 0.31104
AGTR2 angiotensin II receptor, type 2 0.31104
LDLRAD3 low density lipoprotein receptor class A domain containing 3 0.310457
ZBED9 zinc finger, BED-type containing 9 0.30996
EXT1 exostosin glycosyltransferase 1 0.307132
PAIP2B poly(A) binding protein interacting protein 2B 0.306794
OSBPL6 oxysterol binding protein-like 6 0.305567
KCNH2 potassium channel, voltage gated eag related subfamily H, member 2 0.305567
PHEX phosphate regulating endopeptidase homolog, X-linked 0.305567
ST6GALNAC3 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 0.30429
ZNF204P zinc finger protein 204, pseudogene 0.303339
RBMS3 RNA binding motif, single stranded interacting protein 3 0.302751
PHACTR1 phosphatase and actin regulator 1 0.302619
HYKK hydroxylysine kinase 0.302314
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) 0.301516
FBXL18 F-box and leucine-rich repeat protein 18 0.301354
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 0.300994
AHRR aryl-hydrocarbon receptor repressor 0.300994
PDZRN3 PDZ domain containing ring finger 3 0.300994
CNTNAP2 contactin associated protein-like 2 0.300994
IFRD1 interferon-related developmental regulator 1 0.300994
CCND2 cyclin D2 0.300994
DYSF dysferlin 0.300223
CDH26 cadherin 26 0.298789
PHF11 PHD finger protein 11 0.297479
CLDN14 claudin 14 0.297479
CLEC12B C-type lectin domain family 12, member B 0.297479
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2 0.296895
HK2 hexokinase 2 0.294838
CAMK1D calcium/calmodulin-dependent protein kinase ID 0.294629
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4 0.294629
FOXP1 forkhead box P1 0.294629
SCN11A sodium channel, voltage gated, type XI alpha subunit 0.294397
LDB2 LIM domain binding 2 0.292233
THRB thyroid hormone receptor, beta 0.292233
NLGN4X neuroligin 4, X-linked 0.290599
MARCH1 membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase 0.290382
SLC8A3 solute carrier family 8 (sodium/calcium exchanger), member 3 0.290169
ROS1 ROS proto-oncogene 1 , receptor tyrosine kinase 0.290169
PLEKHG1 pleckstrin homology domain containing, family G (with RhoGef domain) member 1 0.290169
ADAMTSL1 ADAMTS-like 1 0.290169
PRKCE protein kinase C, epsilon 0.290169
FGF14 fibroblast growth factor 14 0.290169
GNAL guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type 0.290169
MBP myelin basic protein 0.288356
TDP2 tyrosyl-DNA phosphodiesterase 2 0.288356
CREBBP CREB binding protein 0.288356
SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 0.287302
BMPR1A bone morphogenetic protein receptor, type IA 0.287097
NME7 NME/NM23 family member 7 0.286988
NUAK1 NUAK family, SNF1-like kinase, 1 0.286972
MAP2K5 mitogen-activated protein kinase kinase 5 0.28691
DNAJC7 DnaJ (Hsp40) homolog, subfamily C, member 7 0.286895
UNC13C unc-13 homolog C (C. elegans) 0.286864
IL17RD interleukin 17 receptor D 0.286741
FRMD6 FERM domain containing 6 0.286741
SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 0.286741
SHISA9 shisa family member 9 0.285995
DSCAM Down syndrome cell adhesion molecule 0.285565
TMEM233 transmembrane protein 233 0.284345
ARMC2 armadillo repeat containing 2 0.284071
NCOA2 nuclear receptor coactivator 2 0.283452
SYCE3 synaptonemal complex central element protein 3 0.282418
PRMT8 protein arginine methyltransferase 8 0.282275
NCAM2 neural cell adhesion molecule 2 0.281577
ARHGEF3 Rho guanine nucleotide exchange factor (GEF) 3 0.280385
CNTN4 contactin 4 0.279029
APCDD1L adenomatosis polyposis coli down-regulated 1-like 0.278677
SPRED3 sprouty-related, EVH1 domain containing 3 0.278561
SNX29 sorting nexin 29 0.276906
CTNNA3 catenin (cadherin-associated protein), alpha 3 0.276083
DRD2 dopamine receptor D2 0.275106
CDH13 cadherin 13 0.274637
KCNB2 potassium channel, voltage gated Shab related subfamily B, member 2 0.274453
PPAP2B phosphatidic acid phosphatase type 2B 0.27427
MED27 mediator complex subunit 27 0.272793
NKX2-5 NK2 homeobox 5 0.272139
PAX8 paired box 8 0.271742
ASUN asunder spermatogenesis regulator 0.271201
USP43 ubiquitin specific peptidase 43 0.270974
CALCR calcitonin receptor 0.27075
RAD51B RAD51 paralog B 0.268139
SVIL supervillin 0.267948
DAB1 Dab, reelin signal transducer, homolog 1 (Drosophila) 0.266381
SCARA3 scavenger receptor class A, member 3 0.265647
DPYD dihydropyrimidine dehydrogenase 0.264318
SLC24A2 solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 0.264216
RNF220 ring finger protein 220 0.264065
EPB41L4A erythrocyte membrane protein band 4.1 like 4A 0.263864
JAKMIP1 janus kinase and microtubule interacting protein 1 0.263814
KLHL33 kelch-like family member 33 0.263229
AJAP1 adherens junctions associated protein 1 0.262896
SLC35F3 solute carrier family 35, member F3 0.260857
PACSIN1 protein kinase C and casein kinase substrate in neurons 1 0.260774
MCTP2 multiple C2 domains, transmembrane 2 0.260526
SEZ6L seizure related 6 homolog (mouse)-like 0.259883
UROC1 urocanate hydratase 1 0.259883
LOC145845 uncharacterized LOC145845 0.259725
CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 0.258886
C16ORF45 chromosome 16 open reading frame 45 0.258518
NELL1 NEL-like 1 (chicken) 0.258296
C14ORF132 chromosome 14 open reading frame 132 0.258255
CDKN2B-AS1 CDKN2B antisense RNA 1 0.257923
ROBO2 roundabout, axon guidance receptor, homolog 2 (Drosophila) 0.257841
PPP6R1 protein phosphatase 6, regulatory subunit 1 0.257597
XDH xanthine dehydrogenase 0.257198
LOC643542 uncharacterized LOC643542 0.256651
CHN2 chimerin 2 0.25612
PPARD peroxisome proliferator-activated receptor delta 0.255785
KCNK1 potassium channel, two pore domain subfamily K, member 1 0.255063
ERBB4 erb-b2 receptor tyrosine kinase 4 0.254992
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific) 0.253993
ACAN aggrecan 0.251954
TUSC3 tumor suppressor candidate 3 0.251894
CDHR5 cadherin-related family member 5 0.251654
MPZL1 myelin protein zero-like 1 0.251447
C11ORF44 chromosome 11 open reading frame 44 0.250981
SPATA17 spermatogenesis associated 17 0.250753
LHFPL3 lipoma HMGIC fusion partner-like 3 0.249488
RASSF8 Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 0.248886
CDH18 cadherin 18, type 2 0.248227
TMEM258 transmembrane protein 258 0.247686
GLRX3 glutaredoxin 3 0.246926
PSORS1C3 psoriasis susceptibility 1 candidate 3 (non-protein coding) 0.246466
DCDC2 doublecortin domain containing 2 0.245192
COL25A1 collagen, type XXV, alpha 1 0.244854
KCNIP4 Kv channel interacting protein 4 0.244503
FHIT fragile histidine triad 0.2444
LIN7A lin-7 homolog A (C. elegans) 0.244218
FADS2 fatty acid desaturase 2 0.243957
CORIN corin, serine peptidase 0.243719
C11ORF21 chromosome 11 open reading frame 21 0.237702
USP31 ubiquitin specific peptidase 31 0.237
TCEA3 transcription elongation factor A (SII), 3 0.23419
LPP LIM domain containing preferred translocation partner in lipoma 0.233152
CDKAL1 CDK5 regulatory subunit associated protein 1-like 1 0.230348
SLC6A5 solute carrier family 6 (neurotransmitter transporter), member 5 0.216845
SLC9A9 solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 0.210392
ASTN1 astrotactin 1 0.209651
NFATC2 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 0.207552
LYRM4 LYR motif containing 4 0.20578