Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
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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 | ||||
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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 | ||||
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0.470 | Biomarker | phenotype | BEFREE | Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series. | 27052971 | 2016 | ||||
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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 | ||||
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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 | ||||
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0.470 | Biomarker | phenotype | BEFREE | We analyzed ADCY5 in patients with choreiform or dystonic movements by exome or targeted sequencing. | 26537056 | 2015 | ||||
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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 | ||||
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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 | ||||
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0.470 | Biomarker | phenotype | HPO |