rs864309484, ADCY5

N. diseases: 4
Disease: Chorea ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Chorea
CUI: C0008489
Disease: Chorea
0.010 GeneticVariation BEFREE In one family, a p.M1029K mutation in the C2 domain causes severe dystonia, hypotonia, and chorea. 26537056 2015