Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
0.110 Biomarker disease BEFREE A popular mouse model of mitochondrial disease that lacks NADH:ubiquinone oxidoreductase subunit S4 (NDUFS4), a subunit of mitochondrial complex I, phenocopies many traits of the human disease Leigh syndrome, including the development of optic atrophy. 31248988 2019
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
0.110 Biomarker disease HPO