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: rs797045002
rs797045002
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C1847627
Disease:
Dyskinesia, Familial, with Facial Myokymia 		T 0.700 CausalMutation CLINVAR A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia. 25545163 2015
dbSNP: rs864309515
rs864309515
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C1847627
Disease:
Dyskinesia, Familial, with Facial Myokymia 		T 0.700 CausalMutation CLINVAR ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations. 26537056 2015
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: rs797045002
rs797045002
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C1847627
Disease:
Dyskinesia, Familial, with Facial Myokymia 		A 0.700 CausalMutation CLINVAR Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. 24700542 2014
dbSNP: rs864309483
rs864309483
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C1847627
Disease:
Dyskinesia, Familial, with Facial Myokymia 		A 0.700 CausalMutation CLINVAR Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. 24700542 2014
dbSNP: rs797045002
rs797045002
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C1847627
Disease:
Dyskinesia, Familial, with Facial Myokymia 		A 0.700 CausalMutation CLINVAR Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5. 22782511 2012
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
dbSNP: rs864309483
rs864309483
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C1847627
Disease:
Dyskinesia, Familial, with Facial Myokymia 		A 0.700 CausalMutation CLINVAR Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder. 11310626 2001
dbSNP: rs864309484
rs864309484
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C1847627
Disease:
Dyskinesia, Familial, with Facial Myokymia 		T 0.700 CausalMutation CLINVAR