ADCY5, adenylate cyclase 5, 111

N. diseases: 103; N. variants: 23
Disease: Dystonia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796065306
rs796065306
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0013421
Disease:
Dystonia 		0.010 GeneticVariation BEFREE In 2 unrelated families, a p.A726T mutation in the first cytoplasmic domain (C1) causes a relatively mild disorder of prominent facial and hand dystonia and chorea. 26537056 2015
dbSNP: rs864309484
rs864309484
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0013421
Disease:
Dystonia 		0.010 GeneticVariation BEFREE In one family, a p.M1029K mutation in the C2 domain causes severe dystonia, hypotonia, and chorea. 26537056 2015