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
0.120 GeneticVariation group BEFREE Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions. 24884847 2014
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve
0.120 Biomarker group LHGDN The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy. 15505787 2004
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve
0.120 Biomarker group HPO