ACO2, aconitase 2, 50

N. diseases: 74; N. variants: 14
Disease: Optic Atrophy ×
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 GeneticVariation disease BEFREE Autosomal-recessive optic neuropathies are rare blinding conditions related to retinal ganglion cell (RGC) and optic-nerve degeneration, for which only mutations in TMEM126A and ACO2 are known. 26593267 2015
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.120 Biomarker disease BEFREE This observation identifies ACO2 as the second gene responsible for non-syndromic autosomal recessive optic neuropathies and provides evidence for a genetic overlap between isolated and syndromic forms, giving further support to the view that optic atrophy is a hallmark of defective mitochondrial energy supply. 25351951 2014
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.120 Biomarker disease HPO