Gene: ADCY5 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553732126
rs1553732126
ADCY5
CG 0.700 GeneticVariation CLINVAR ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients. 28511835

2017
dbSNP: rs1553732126
rs1553732126
ADCY5
CG 0.700 GeneticVariation CLINVAR ADCY5-related dyskinesia presenting as familial myoclonus-dystonia. 28229249

2017
dbSNP: rs864309483
rs864309483
ADCY5
A 0.700 CausalMutation CLINVAR ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients. 28511835

2017
dbSNP: rs864309483
rs864309483
ADCY5
A 0.700 CausalMutation CLINVAR ADCY5-related dyskinesia presenting as familial myoclonus-dystonia. 28229249

2017
dbSNP: rs1553732126
rs1553732126
ADCY5
CG 0.700 GeneticVariation CLINVAR ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias. 26686870

2016
dbSNP: rs1553732126
rs1553732126
ADCY5
CG 0.700 GeneticVariation CLINVAR Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series. 27052971

2016
dbSNP: rs1553732126
rs1553732126
ADCY5
CG 0.700 GeneticVariation CLINVAR Phenotypic insights into ADCY5-associated disease. 27061943

2016
dbSNP: rs864309483
rs864309483
ADCY5
A 0.700 CausalMutation CLINVAR Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series. 27052971

2016
dbSNP: rs864309483
rs864309483
ADCY5
A 0.700 CausalMutation CLINVAR Phenotypic insights into ADCY5-associated disease. 27061943

2016
dbSNP: rs864309483
rs864309483
ADCY5
A 0.700 CausalMutation CLINVAR ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias. 26686870

2016
dbSNP: rs1553732126
rs1553732126
ADCY5
CG 0.700 GeneticVariation CLINVAR ADCY5 mutations are another cause of benign hereditary chorea. 26085604

2015
dbSNP: rs1553732126
rs1553732126
ADCY5
CG 0.700 GeneticVariation CLINVAR A genome sequencing program for novel undiagnosed diseases. 25790160

2015
dbSNP: rs1553732126
rs1553732126
ADCY5
CG 0.700 GeneticVariation CLINVAR ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations. 26537056

2015
dbSNP: rs864309483
rs864309483
ADCY5
A 0.700 CausalMutation CLINVAR ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations. 26537056

2015
dbSNP: rs864309483
rs864309483
ADCY5
A 0.700 CausalMutation CLINVAR ADCY5 mutations are another cause of benign hereditary chorea. 26085604

2015
dbSNP: rs864309483
rs864309483
ADCY5
A 0.700 CausalMutation CLINVAR A genome sequencing program for novel undiagnosed diseases. 25790160

2015
dbSNP: rs1553732126
rs1553732126
ADCY5
CG 0.700 GeneticVariation CLINVAR 4-Phenylbutyrate attenuates the ER stress response and cyclic AMP accumulation in DYT1 dystonia cell models. 25379658

2014
dbSNP: rs1553732126
rs1553732126
ADCY5
CG 0.700 GeneticVariation CLINVAR Structure, mechanism, and regulation of soluble adenylyl cyclases - similarities and differences to transmembrane adenylyl cyclases. 25193033

2014
dbSNP: rs1553732126
rs1553732126
ADCY5
CG 0.700 GeneticVariation CLINVAR Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. 24700542

2014
dbSNP: rs864309483
rs864309483
ADCY5
A 0.700 CausalMutation CLINVAR 4-Phenylbutyrate attenuates the ER stress response and cyclic AMP accumulation in DYT1 dystonia cell models. 25379658

2014
dbSNP: rs864309483
rs864309483
ADCY5
A 0.700 CausalMutation CLINVAR Structure, mechanism, and regulation of soluble adenylyl cyclases - similarities and differences to transmembrane adenylyl cyclases. 25193033

2014
dbSNP: rs864309483
rs864309483
ADCY5
A 0.700 CausalMutation CLINVAR Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. 24700542

2014
dbSNP: rs1553732126
rs1553732126
ADCY5
CG 0.700 GeneticVariation CLINVAR Role of Gα(olf) in familial and sporadic adult-onset primary dystonia. 23449625

2013
dbSNP: rs864309483
rs864309483
ADCY5
A 0.700 CausalMutation CLINVAR Role of Gα(olf) in familial and sporadic adult-onset primary dystonia. 23449625

2013
dbSNP: rs1553732126
rs1553732126
ADCY5
CG 0.700 GeneticVariation CLINVAR Gα(olf) mutation allows parsing the role of cAMP-dependent and extracellular signal-regulated kinase-dependent signaling in L-3,4-dihydroxyphenylalanine-induced dyskinesia. 22539851

2012