rs796065306, ADCY5

N. diseases: 4
Disease: Dystonia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Dystonia
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