Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4538
Gene Symbol: ND4
ND4
0.300 Biomarker group CTD_human Mitochondrial genetic control of assembly and function of complex I in mammalian cells. 11695835 2001
Entrez Id: 4541
Gene Symbol: ND6
ND6
0.300 Biomarker group CTD_human Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy. 10072046 1999
Entrez Id: 4538
Gene Symbol: ND4
ND4
0.300 Biomarker group CTD_human Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Leber's hereditary optic neuropathy. 8662757 1996
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
0.020 GeneticVariation group BEFREE Several OPA1 variants cause dominant optic atrophy (DOA), the most common hereditary optic atrophy. 28668999 2017
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
0.020 GeneticVariation group BEFREE Mutation screening of mitochondrial DNA as well as OPA1 and OPA3 in a Chinese cohort with suspected hereditary optic atrophy. 25205859 2014
Entrez Id: 80207
Gene Symbol: OPA3
OPA3
0.010 GeneticVariation group BEFREE Mutation screening of mitochondrial DNA as well as OPA1 and OPA3 in a Chinese cohort with suspected hereditary optic atrophy. 25205859 2014