ACO2, aconitase 2, 50

N. diseases: 74; N. variants: 14
Disease: Disorder of the optic nerve ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve 		0.020 GeneticVariation group BEFREE We describe the second family with ACO2 variants to have an isolated optic neuropathy highlighting the importance of including this gene in genomic panels assessing inherited optic neuropathies. 30118607 2018
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve 		0.020 GeneticVariation group BEFREE Our study shows that autosomal recessive ACO2 mutations can cause either isolated or syndromic optic neuropathy. 25351951 2014