Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 50
Gene Symbol: ACO2
ACO2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency. 26992325

2016
Entrez Id: 50
Gene Symbol: ACO2
ACO2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy. 25351951

2014
Entrez Id: 50
Gene Symbol: ACO2
ACO2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant. 28545339

2017
Entrez Id: 50
Gene Symbol: ACO2
ACO2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant. 28545339

2017
Entrez Id: 50
Gene Symbol: ACO2
ACO2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency. 26992325

2016
Entrez Id: 50
Gene Symbol: ACO2
ACO2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy. 25351951

2014
Entrez Id: 50
Gene Symbol: ACO2
ACO2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2. 22405087

2012
Entrez Id: 50
Gene Symbol: ACO2
ACO2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2. 22405087

2012
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR The adenosine deaminase acting on RNA 1 p150 isoform is involved in the pathogenesis of dyschromatosis symmetrica hereditaria. 23621630

2013
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria. 12916015

2003
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH). 15146470

2004
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutières Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations. 26802932

2016
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1. 24262145

2014
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. 25604658

2015
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. 24183309

2013
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Two novel mutations and evidence for haploinsufficiency of the ADAR gene in dyschromatosis symmetrica hereditaria. 16536805

2006
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Five novel mutations in the ADAR1 gene associated with dyschromatosis symmetrica hereditaria. 24950769

2014
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.170 CausalMutation 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
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.170 GeneticVariation CLINVAR Localization of D1 and D2 dopamine receptors in brain with subtype-specific antibodies. 8415621

1993
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.170 GeneticVariation CLINVAR ADCY5 mutations are another cause of benign hereditary chorea. 26085604

2015
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.170 CausalMutation CLINVAR Gα(olf) mutation allows parsing the role of cAMP-dependent and extracellular signal-regulated kinase-dependent signaling in L-3,4-dihydroxyphenylalanine-induced dyskinesia. 22539851

2012
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.170 GeneticVariation CLINVAR Discrete expression of Ca2+/calmodulin-sensitive and Ca(2+)-insensitive adenylyl cyclases in the rat brain. 8511718

1993
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.170 GeneticVariation 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
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.170 GeneticVariation 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
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.170 CausalMutation CLINVAR Impaired D2 dopamine receptor function in mice lacking type 5 adenylyl cyclase. 12223546

2002