ACO2, aconitase 2, 50

N. diseases: 74; N. variants: 14
Disease: OPTIC ATROPHY 9 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225384
Disease: OPTIC ATROPHY 9
OPTIC ATROPHY 9 		0.700 GeneticVariation disease UNIPROT Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy. 25351951 2014
CUI: C4225384
Disease: OPTIC ATROPHY 9
OPTIC ATROPHY 9 		0.700 Biomarker disease GENOMICS_ENGLAND Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2. 22405087 2012
CUI: C4225384
Disease: OPTIC ATROPHY 9
OPTIC ATROPHY 9 		0.700 CausalMutation disease CLINVAR
CUI: C4225384
Disease: OPTIC ATROPHY 9
OPTIC ATROPHY 9 		0.700 Biomarker disease CTD_human