rs104894220, DRD2

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Myoclonic dystonia
CUI: C1834570
Disease: Myoclonic dystonia
0.010 GeneticVariation BEFREE A novel Val154-->Ile mutation in the D2 dopamine receptor (DRD2) on chromosome 11q23 has recently been shown to be associated with myoclonus dystonia (M-D) in one large family. 10716258 2000