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 		0.180 GeneticVariation disease BEFREE Here, we used a newly developed cell line that used Crispr-Cas9 to eliminate the predominant adenylyl cyclase isoforms to more accurately characterize a series of AC5 gain-of-function mutations which have been identified in ADCY5-related dyskinesias. 30772269 2019
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5 		0.180 Biomarker disease BEFREE To characterise the distinctive eye movement disorder and the sleep-related dyskinesia in Adenylate cyclase 5 (ADCY5) related disease. 29680308 2018
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5 		0.180 Biomarker disease BEFREE ADCY5-related dyskinesia may manifest variable expressivity within a single family, and affected individuals may be initially diagnosed with differing neurological phenotypes. 28229249 2017
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5 		0.180 GeneticVariation disease BEFREE Mutations in ADCY5 and PDE10A have been identified as important causes of childhood-onset dyskinesias and KMT2B mutations as one of the most frequent causes of complex dystonia in children. 29086067 2017
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5 		0.180 Biomarker disease BEFREE ADCY5-associated dyskinesia may be under-recognized, and its diagnosis has important prognostic, genetic, and therapeutic implications.© 2016 The Authors. 27061943 2016
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5 		0.180 Biomarker disease BEFREE ADCY5-related dyskinesia is a childhood-onset disorder with a wide range of hyperkinetic abnormal movements. 26537056 2015
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5 		0.180 GeneticVariation disease BEFREE Our study identifies mutations in ADCY5, the gene previously linked to familial dyskinesia with facial myokymia, as a cause of familial and sporadic BHC. 26085604 2015
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5 		0.180 GeneticVariation disease BEFREE Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. 24700542 2014
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5 		0.180 Biomarker disease HPO
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5 		0.180 CausalMutation disease CLINVAR