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 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 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 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 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 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