Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4538
Gene Symbol: ND4
ND4
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber
0.700 GeneticVariation UNIPROT Leber's hereditary optic neuropathy in Indonesia: two families with the mtDNA 11778G>A and 14484T>C mutations. 9452107

1998

Entrez Id: 4538
Gene Symbol: ND4
ND4
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber
0.700 GeneticVariation UNIPROT Detection of the G to A mitochondrial DNA mutation at position 11778 in German families with Leber's hereditary optic neuropathy. 1959931

1991

Entrez Id: 4538
Gene Symbol: ND4
ND4
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber
0.700 GeneticVariation UNIPROT Electron transfer properties of NADH:ubiquinone reductase in the ND13460 and the ND411778 mutations of the Leber hereditary optic neuroretinopathy (LHON). 1959619

1991

Entrez Id: 4538
Gene Symbol: ND4
ND4
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber
0.700 GeneticVariation UNIPROT Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. 3201231

1988

Entrez Id: 4538
Gene Symbol: ND4
ND4
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome
0.500 GeneticVariation UNIPROT A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I. 1323207

1992

Entrez Id: 4538
Gene Symbol: ND4
ND4
CUI: C1839040
Disease: LEBER OPTIC ATROPHY AND DYSTONIA
LEBER OPTIC ATROPHY AND DYSTONIA
0.300 GeneticVariation UNIPROT Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. 8644732

1996