autosomal dominant disease Gene Set

Dataset GWASdb SNP-Disease Associations
Category disease or phenotype associations
Type disease
Description An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. (Human Disease Ontology, DOID_0050736)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/DOID:0050736
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Genes

69 genes associated with the disease autosomal dominant 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) 2.54172
IRF4 interferon regulatory factor 4 2.5102
FANCA Fanconi anemia, complementation group A 2.28889
EIF6 eukaryotic translation initiation factor 6 1.28383
TYR tyrosinase 1.06296
BNC2 basonuclin 2 0.88034
RYR1 ryanodine receptor 1 (skeletal) 0.668836
COL17A1 collagen, type XVII, alpha 1 0.638262
ESRRG estrogen-related receptor gamma 0.582555
LMNTD2 lamin tail domain containing 2 0.543759
RAF1 Raf-1 proto-oncogene, serine/threonine kinase 0.506842
FGF1 fibroblast growth factor 1 (acidic) 0.502854
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1 0.492088
WWOX WW domain containing oxidoreductase 0.487403
CNKSR3 CNKSR family member 3 0.485346
LDLRAD3 low density lipoprotein receptor class A domain containing 3 0.484278
EXT1 exostosin glycosyltransferase 1 0.481976
PAIP2B poly(A) binding protein interacting protein 2B 0.481742
ZNF204P zinc finger protein 204, pseudogene 0.479822
RBMS3 RNA binding motif, single stranded interacting protein 3 0.479507
FBXL18 F-box and leucine-rich repeat protein 18 0.478757
DYSF dysferlin 0.478148
PHF11 PHD finger protein 11 0.476572
SCN11A sodium channel, voltage gated, type XI alpha subunit 0.474705
MARCH1 membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase 0.472228
AKAP6 A kinase (PRKA) anchor protein 6 0.472216
TDP2 tyrosyl-DNA phosphodiesterase 2 0.470932
DNAJC7 DnaJ (Hsp40) homolog, subfamily C, member 7 0.469995
SHISA9 shisa family member 9 0.469418
ARMC2 armadillo repeat containing 2 0.468187
NCAM2 neural cell adhesion molecule 2 0.466831
APCDD1L adenomatosis polyposis coli down-regulated 1-like 0.46525
CTNNA3 catenin (cadherin-associated protein), alpha 3 0.463832
NRP1 neuropilin 1 0.463778
KCNB2 potassium channel, voltage gated Shab related subfamily B, member 2 0.462841
CALCR calcitonin receptor 0.460489
SCARA3 scavenger receptor class A, member 3 0.457009
SOX5 SRY (sex determining region Y)-box 5 0.456186
DPYD dihydropyrimidine dehydrogenase 0.455936
EPB41L4A erythrocyte membrane protein band 4.1 like 4A 0.455569
SLC35F3 solute carrier family 35, member F3 0.453136
MCTP2 multiple C2 domains, transmembrane 2 0.452869
SEZ6L seizure related 6 homolog (mouse)-like 0.452348
LOC145845 uncharacterized LOC145845 0.45222
C16ORF45 chromosome 16 open reading frame 45 0.451239
NELL1 NEL-like 1 (chicken) 0.451024
ROBO2 roundabout, axon guidance receptor, homolog 2 (Drosophila) 0.450636
PPP6R1 protein phosphatase 6, regulatory subunit 1 0.450429
XDH xanthine dehydrogenase 0.450088
CHN2 chimerin 2 0.44917
PPARD peroxisome proliferator-activated receptor delta 0.448885
ERBB4 erb-b2 receptor tyrosine kinase 4 0.448209
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific) 0.447357
CDHR5 cadherin-related family member 5 0.445363
MPZL1 myelin protein zero-like 1 0.445186
C11ORF44 chromosome 11 open reading frame 44 0.444789
SPATA17 spermatogenesis associated 17 0.444594
LHFPL3 lipoma HMGIC fusion partner-like 3 0.443515
RASSF8 Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 0.442997
CDH18 cadherin 18, type 2 0.4424
TMEM258 transmembrane protein 258 0.44191
GLRX3 glutaredoxin 3 0.441222
PSORS1C3 psoriasis susceptibility 1 candidate 3 (non-protein coding) 0.440805
DCDC2 doublecortin domain containing 2 0.439649
COL25A1 collagen, type XXV, alpha 1 0.439344
KCNIP4 Kv channel interacting protein 4 0.439025
FHIT fragile histidine triad 0.438932
LIN7A lin-7 homolog A (C. elegans) 0.438766
FADS2 fatty acid desaturase 2 0.43853