Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
0.470 GeneticVariation phenotype BEFREE Mutations in the adenylate cyclase 5 (ADCY5) gene recently have been identified as the cause of a childhood-onset disorder characterized by persistent or paroxysmal choreic, myoclonic, and/or dystonic movements. 27931826 2017
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
0.470 GeneticVariation phenotype BEFREE We performed a screening of the entire ADCY5 coding sequence in 44 unrelated subjects with genetically undiagnosed childhood-onset hyperkinetic movement disorders, featuring chorea alone or in combination with myoclonus and dystonia. 28511835 2017
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
0.470 Biomarker phenotype BEFREE 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
0.470 GeneticVariation phenotype BEFREE Adenylyl cyclase 5 (ADCY5) mutations is associated with heterogenous syndromes: familial dyskinesia and facial myokymia; paroxysmal chorea and dystonia; autosomal-dominant chorea and dystonia; and benign hereditary chorea. 27061943 2016
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
0.470 GeneticVariation phenotype BEFREE Whole exome sequencing in a three-generation family affected with autosomal dominant chorea associated with dystonia identified a single de novo mutation—c.2088+1G>A in a 5' donor splice-site of ADCY5—segregating with the disease. 25545163 2015
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
0.470 Biomarker phenotype BEFREE We analyzed ADCY5 in patients with choreiform or dystonic movements by exome or targeted sequencing. 26537056 2015
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
0.470 GeneticVariation phenotype BEFREE To identify the cause of childhood onset involuntary paroxysmal choreiform and dystonic movements in 2 unrelated sporadic cases and to investigate the functional effect of missense mutations in adenylyl cyclase 5 (ADCY5) in sporadic and inherited cases of autosomal dominant familial dyskinesia with facial myokymia (FDFM). 24700542 2014
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
0.470 Biomarker phenotype GENOMICS_ENGLAND To identify the cause of childhood onset involuntary paroxysmal choreiform and dystonic movements in 2 unrelated sporadic cases and to investigate the functional effect of missense mutations in adenylyl cyclase 5 (ADCY5) in sporadic and inherited cases of autosomal dominant familial dyskinesia with facial myokymia (FDFM). 24700542 2014
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
0.470 Biomarker phenotype HPO