Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4540
Gene Symbol: ND5
ND5
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber
0.680 GeneticVariation UNIPROT The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation. 16240359

2005

Entrez Id: 4540
Gene Symbol: ND5
ND5
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber
0.680 GeneticVariation UNIPROT When does bilateral optic atrophy become Leber hereditary optic neuropathy? 8213825

1993

Entrez Id: 4540
Gene Symbol: ND5
ND5
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber
0.680 GeneticVariation UNIPROT The nucleotide pair (np) 13708 mutation (G to A, ND5 gene) changed an alanine to a threonine and was found in 6/25 (24%) of non-11778 LHON pedigrees and in 5.0% of controls, the np 15257 mutation (G to A, cytochrome b gene) changed an aspartate to an asparagine and was found in 4 of the 13708-positive pedigrees and 0.3% of controls, the np 15812 mutation (G to A, cytochrome b gene) changed a valine to a methionine and was detected in two of the 15257-positive pedigrees and 0.1% of controls and the np 5244 mutation (G to A, ND2 gene) changed a glycine to a serine and was found in one of the 15812-positive patients and none of 2103 controls. 1732158

1992

Entrez Id: 4540
Gene Symbol: ND5
ND5
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber
0.680 GeneticVariation UNIPROT Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. 1900003

1991