ADCY5, adenylate cyclase 5, 111

N. diseases: 103; N. variants: 23
Disease: Dysmorphic features ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs864309483
rs864309483
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR ADCY5-related dyskinesia presenting as familial myoclonus-dystonia. 28229249 2017
dbSNP: rs864309483
rs864309483
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0432072
Disease:
Dysmorphic features 		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
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Phenotypic insights into ADCY5-associated disease. 27061943 2016
dbSNP: rs864309483
rs864309483
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias. 26686870 2016
dbSNP: rs864309483
rs864309483
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0432072
Disease:
Dysmorphic features 		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
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations. 26537056 2015
dbSNP: rs864309483
rs864309483
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR ADCY5 mutations are another cause of benign hereditary chorea. 26085604 2015
dbSNP: rs864309483
rs864309483
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR A genome sequencing program for novel undiagnosed diseases. 25790160 2015
dbSNP: rs864309483
rs864309483
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0432072
Disease:
Dysmorphic features 		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
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0432072
Disease:
Dysmorphic features 		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: C0432072
Disease:
Dysmorphic features 		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
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Role of Gα(olf) in familial and sporadic adult-onset primary dystonia. 23449625 2013
dbSNP: rs864309483
rs864309483
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0432072
Disease:
Dysmorphic features 		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: rs864309483
rs864309483
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation 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
dbSNP: rs864309483
rs864309483
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Motor dysfunction in type 5 adenylyl cyclase-null mice. 12665504 2003
dbSNP: rs864309483
rs864309483
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Characterization of the human adenylyl cyclase gene family: cDNA, gene structure, and tissue distribution of the nine isoforms. 12503609 2003
dbSNP: rs864309483
rs864309483
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Impaired D2 dopamine receptor function in mice lacking type 5 adenylyl cyclase. 12223546 2002
dbSNP: rs864309483
rs864309483
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR D1- and D2-like dopamine receptors are co-localized on the presynaptic varicosities of striatal and nucleus accumbens neurons in vitro. 10051231 1999
dbSNP: rs864309483
rs864309483
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Localization of D1 and D2 dopamine receptors in brain with subtype-specific antibodies. 8415621 1993
dbSNP: rs864309483
rs864309483
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Cloning and expression of an adenylyl cyclase localized to the corpus striatum. 8429907 1993
dbSNP: rs864309483
rs864309483
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Discrete expression of Ca2+/calmodulin-sensitive and Ca(2+)-insensitive adenylyl cyclases in the rat brain. 8511718 1993
dbSNP: rs864309483
rs864309483
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Isolation and characterization of a novel cardiac adenylylcyclase cDNA. 1618857 1992