ACO2, aconitase 2, 50

N. diseases: 74; N. variants: 14
Disease: Optic Atrophy 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0338508
Disease: Optic Atrophy 1
Optic Atrophy 1 		0.010 GeneticVariation disease BEFREE Human iPSC line, IISHDOi006-A, was obtained from fibroblasts of a patient with Dominant Optic Atrophy (DOA) carrying a heterozygous mutation in the gene ACO2: c.1999G>A; p.Glu667Lys. 31509793 2019