rs796065306, ADCY5

N. diseases: 4
Disease: Dyskinesia, Familial, with Facial Myokymia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Dyskinesia, Familial, with Facial Myokymia
CUI: C1847627
Disease: Dyskinesia, Familial, with Facial Myokymia
0.700 CausalMutation CLINVAR Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. 24700542 2014
Dyskinesia, Familial, with Facial Myokymia
CUI: C1847627
Disease: Dyskinesia, Familial, with Facial Myokymia
0.700 CausalMutation CLINVAR Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder. 11310626 2001