Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4535
Gene Symbol: ND1
ND1
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome
0.740 GeneticVariation UNIPROT A novel combination of mitochondrial tRNA and ND1 gene mutations in a syndrome with MELAS, cardiomyopathy, and diabetes mellitus. 8723687

1996

Entrez Id: 4535
Gene Symbol: ND1
ND1
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber
0.700 GeneticVariation UNIPROT An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. 1417830

1992

Entrez Id: 4535
Gene Symbol: ND1
ND1
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber
0.700 GeneticVariation UNIPROT Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation. 2018041

1991

Entrez Id: 4535
Gene Symbol: ND1
ND1
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber
0.700 GeneticVariation UNIPROT Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. 1900003

1991

Entrez Id: 4535
Gene Symbol: ND1
ND1
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber
0.700 GeneticVariation UNIPROT A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy. 1674640

1991

Entrez Id: 4535
Gene Symbol: ND1
ND1
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber
0.700 GeneticVariation UNIPROT Biochemical and molecular genetic evidence is presented that in six independent pedigrees the development of Leber hereditary optic neuropathy (LHON) is due to the same primary mutation in the mitochondrial ND1 gene. 1928099

1991

Entrez Id: 4535
Gene Symbol: ND1
ND1
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: 4535
Gene Symbol: ND1
ND1
ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL
0.300 GeneticVariation UNIPROT Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients. 8104867

1993