Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients. 28511835

2017
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR ADCY5-related dyskinesia presenting as familial myoclonus-dystonia. 28229249

2017
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series. 27052971

2016
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias. 26686870

2016
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Phenotypic insights into ADCY5-associated disease. 27061943

2016
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR A genome sequencing program for novel undiagnosed diseases. 25790160

2015
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR ADCY5 mutations are another cause of benign hereditary chorea. 26085604

2015
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations. 26537056

2015
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR 4-Phenylbutyrate attenuates the ER stress response and cyclic AMP accumulation in DYT1 dystonia cell models. 25379658

2014
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Structure, mechanism, and regulation of soluble adenylyl cyclases - similarities and differences to transmembrane adenylyl cyclases. 25193033

2014
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. 24700542

2014
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Role of Gα(olf) in familial and sporadic adult-onset primary dystonia. 23449625

2013
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 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
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5. 22782511

2012
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Characterization of the human adenylyl cyclase gene family: cDNA, gene structure, and tissue distribution of the nine isoforms. 12503609

2003
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Motor dysfunction in type 5 adenylyl cyclase-null mice. 12665504

2003
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Impaired D2 dopamine receptor function in mice lacking type 5 adenylyl cyclase. 12223546

2002
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR D1- and D2-like dopamine receptors are co-localized on the presynaptic varicosities of striatal and nucleus accumbens neurons in vitro. 10051231

1999
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Cloning and expression of an adenylyl cyclase localized to the corpus striatum. 8429907

1993
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Discrete expression of Ca2+/calmodulin-sensitive and Ca(2+)-insensitive adenylyl cyclases in the rat brain. 8511718

1993
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Localization of D1 and D2 dopamine receptors in brain with subtype-specific antibodies. 8415621

1993
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Isolation and characterization of a novel cardiac adenylylcyclase cDNA. 1618857

1992