ADCY5, adenylate cyclase 5, 111

N. diseases: 103; N. variants: 23
Disease: Dyskinesia, Familial, with Facial Myokymia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1847627
Disease: Dyskinesia, Familial, with Facial Myokymia
Dyskinesia, Familial, with Facial Myokymia 		0.720 GeneticVariation disease BEFREE Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5. 22782511 2012
CUI: C1847627
Disease: Dyskinesia, Familial, with Facial Myokymia
Dyskinesia, Familial, with Facial Myokymia 		0.720 GeneticVariation disease 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
CUI: C1847627
Disease: Dyskinesia, Familial, with Facial Myokymia
Dyskinesia, Familial, with Facial Myokymia 		0.720 CausalMutation disease CLINVAR A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia. 25545163 2015
CUI: C1847627
Disease: Dyskinesia, Familial, with Facial Myokymia
Dyskinesia, Familial, with Facial Myokymia 		0.720 CausalMutation disease CLINVAR Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5. 22782511 2012
CUI: C1847627
Disease: Dyskinesia, Familial, with Facial Myokymia
Dyskinesia, Familial, with Facial Myokymia 		0.720 CausalMutation disease CLINVAR ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations. 26537056 2015
CUI: C1847627
Disease: Dyskinesia, Familial, with Facial Myokymia
Dyskinesia, Familial, with Facial Myokymia 		0.720 CausalMutation disease CLINVAR Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. 24700542 2014
CUI: C1847627
Disease: Dyskinesia, Familial, with Facial Myokymia
Dyskinesia, Familial, with Facial Myokymia 		0.720 CausalMutation disease CLINVAR Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder. 11310626 2001
CUI: C1847627
Disease: Dyskinesia, Familial, with Facial Myokymia
Dyskinesia, Familial, with Facial Myokymia 		0.720 Biomarker disease CTD_human
CUI: C1847627
Disease: Dyskinesia, Familial, with Facial Myokymia
Dyskinesia, Familial, with Facial Myokymia 		0.720 GermlineCausalMutation disease ORPHANET Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5. 22782511 2012
CUI: C1847627
Disease: Dyskinesia, Familial, with Facial Myokymia
Dyskinesia, Familial, with Facial Myokymia 		0.720 GeneticVariation disease UNIPROT Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5. 22782511 2012
CUI: C1847627
Disease: Dyskinesia, Familial, with Facial Myokymia
Dyskinesia, Familial, with Facial Myokymia 		0.720 GeneticVariation disease UNIPROT Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. 24700542 2014
CUI: C1847627
Disease: Dyskinesia, Familial, with Facial Myokymia
Dyskinesia, Familial, with Facial Myokymia 		0.720 Biomarker disease GENOMICS_ENGLAND Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder. 11310626 2001
CUI: C1847627
Disease: Dyskinesia, Familial, with Facial Myokymia
Dyskinesia, Familial, with Facial Myokymia 		0.720 Biomarker disease GENOMICS_ENGLAND Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. 24700542 2014
CUI: C1847627
Disease: Dyskinesia, Familial, with Facial Myokymia
Dyskinesia, Familial, with Facial Myokymia 		0.720 Biomarker disease GENOMICS_ENGLAND Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. 24700542 2014
CUI: C1847627
Disease: Dyskinesia, Familial, with Facial Myokymia
Dyskinesia, Familial, with Facial Myokymia 		0.720 Biomarker disease GENOMICS_ENGLAND ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients. 28511835 2017