ADCY5, adenylate cyclase 5, 111

N. diseases: 103; N. variants: 23
Disease: Dyskinesia, Familial, with Facial Myokymia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796065306
rs796065306
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C1847627
Disease:
Dyskinesia, Familial, with Facial Myokymia 		T 0.700 CausalMutation CLINVAR Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. 24700542 2014
dbSNP: rs796065306
rs796065306
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C1847627
Disease:
Dyskinesia, Familial, with Facial Myokymia 		T 0.700 CausalMutation CLINVAR Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder. 11310626 2001