rs864309484, 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 one family, a p.M1029K mutation in the C2 domain causes severe dystonia, hypotonia, and chorea. 26537056 2015