Gene: ADCY5 ×
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 GeneticVariation group BEFREE GNAO1 and ADCY5 mutations can also cause paroxysmal movement disorders, often in the context of ongoing motor symptoms. 31353980 2019
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5 		0.170 Biomarker group BEFREE Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders. 30975617 2019
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5 		0.170 GeneticVariation group 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 		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 ADCY5-related dyskinesia presenting as familial myoclonus-dystonia. 28229249 2017
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5 		0.170 CausalMutation group 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 		0.170 GeneticVariation group CLINVAR ADCY5-related dyskinesia presenting as familial myoclonus-dystonia. 28229249 2017
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5 		0.170 CausalMutation 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 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 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 CLINVAR Phenotypic insights into ADCY5-associated disease. 27061943 2016
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5 		0.170 CausalMutation group CLINVAR Phenotypic insights into ADCY5-associated disease. 27061943 2016
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5 		0.170 CausalMutation group CLINVAR ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias. 26686870 2016
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5 		0.170 Biomarker group BEFREE The authors conclude that deep brain stimulation may provide benefit in ADCY5-related movement disorders. 27052971 2016
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5 		0.170 GeneticVariation group CLINVAR ADCY5 mutations are another cause of benign hereditary chorea. 26085604 2015
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 CausalMutation group CLINVAR ADCY5 mutations are another cause of benign hereditary chorea. 26085604 2015
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 GeneticVariation group CLINVAR A genome sequencing program for novel undiagnosed diseases. 25790160 2015
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5 		0.170 CausalMutation 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 A genome sequencing program for novel undiagnosed diseases. 25790160 2015
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 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 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 Structure, mechanism, and regulation of soluble adenylyl cyclases - similarities and differences to transmembrane adenylyl cyclases. 25193033 2014