Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5 		0.170 AlteredExpression group BEFREE Our finding confirms the genetic/clinical heterogeneity of the disorder; corroborated by previous identification of ADCY5 mutations in one family with dyskinesia-facial myokymia and in two unrelated sporadic cases of paxoysmal choreic/dystonia-facial myokymia; ADCY5's high expression in the striatum and movement disorders in ADCY5-deficient mice. 25545163 2015
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5 		0.170 GeneticVariation group 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 		0.170 CausalMutation group CLINVAR Impaired D2 dopamine receptor function in mice lacking type 5 adenylyl cyclase. 12223546 2002
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5 		0.170 GeneticVariation group CLINVAR ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias. 26686870 2016
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5 		0.170 GeneticVariation group BEFREE Mutations in ADCY5 are responsible for a hyperkinetic movement disorder that can be preceded by episodic attacks before the movement disorder becomes persistent and is frequently misdiagnosed as dyskinetic cerebral palsy. 28511835 2017
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5 		0.170 CausalMutation group CLINVAR Motor dysfunction in type 5 adenylyl cyclase-null mice. 12665504 2003
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5 		0.170 CausalMutation group 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 		0.170 GeneticVariation group CLINVAR Motor dysfunction in type 5 adenylyl cyclase-null mice. 12665504 2003
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5 		0.170 GeneticVariation group CLINVAR Phenotypic insights into ADCY5-associated disease. 27061943 2016
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5 		0.170 GeneticVariation group CLINVAR Cloning and expression of an adenylyl cyclase localized to the corpus striatum. 8429907 1993
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5 		0.170 CausalMutation group CLINVAR Localization of D1 and D2 dopamine receptors in brain with subtype-specific antibodies. 8415621 1993
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5 		0.170 CausalMutation group CLINVAR ADCY5 mutations are another cause of benign hereditary chorea. 26085604 2015
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5 		0.170 CausalMutation group 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 		0.170 GeneticVariation group 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 		0.170 CausalMutation group CLINVAR Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. 24700542 2014
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5 		0.170 GeneticVariation group CLINVAR Isolation and characterization of a novel cardiac adenylylcyclase cDNA. 1618857 1992
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5 		0.170 CausalMutation group 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 		0.170 CausalMutation group CLINVAR Isolation and characterization of a novel cardiac adenylylcyclase cDNA. 1618857 1992
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5 		0.170 GeneticVariation group CLINVAR ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations. 26537056 2015
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5 		0.170 CausalMutation group 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 		0.170 GeneticVariation group CLINVAR A genome sequencing program for novel undiagnosed diseases. 25790160 2015
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5 		0.170 GeneticVariation group 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 		0.170 GeneticVariation group 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 		0.170 GeneticVariation group CLINVAR Role of Gα(olf) in familial and sporadic adult-onset primary dystonia. 23449625 2013
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5 		0.170 CausalMutation group CLINVAR Role of Gα(olf) in familial and sporadic adult-onset primary dystonia. 23449625 2013