ACO2, aconitase 2, 50

N. diseases: 74; N. variants: 14
Disease: Optic Neuropathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3887709
Disease: Optic Neuropathy
Optic Neuropathy 		0.020 GeneticVariation disease BEFREE A sibling study of isolated optic neuropathy associated with novel variants in the ACO2 gene. 30118607 2018
CUI: C3887709
Disease: Optic Neuropathy
Optic Neuropathy 		0.020 GeneticVariation disease BEFREE Our study shows that autosomal recessive ACO2 mutations can cause either isolated or syndromic optic neuropathy. 25351951 2014