ACO2, aconitase 2, 50

N. diseases: 74; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.120 Biomarker disease HPO
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.120 Biomarker disease HPO
CUI: C0035242
Disease: Respiratory Tract Diseases
Respiratory Tract Diseases 		0.100 GeneticVariation group GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation group CLINVAR Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant. 28545339 2017
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation group CLINVAR Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant. 28545339 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.100 GeneticVariation disease GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation group CLINVAR Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency. 26992325 2016
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation group CLINVAR Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency. 26992325 2016
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.100 GeneticVariation disease GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919 2015
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation group CLINVAR Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy. 25351951 2014
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation group CLINVAR Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy. 25351951 2014
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation group CLINVAR Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2. 22405087 2012
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation group CLINVAR Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2. 22405087 2012
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0004158
Disease: Athetosis
Athetosis 		0.100 Biomarker phenotype HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0030232
Disease: Pallor
Pallor 		0.100 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.100 Biomarker disease HPO
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 Biomarker disease HPO
CUI: C0078981
Disease: Arachnoid Cysts
Arachnoid Cysts 		0.100 GeneticVariation disease CLINVAR
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		0.100 Biomarker phenotype HPO
CUI: C0155016
Disease: Color Blindness, Red-Green
Color Blindness, Red-Green 		0.100 Biomarker disease HPO
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		0.100 GeneticVariation disease CLINVAR