DisGeNET - a database of gene-disease associations

Optic Atrophy, Hereditary, Leber, C0917796

Gene: ND1 ×

Source: CURATED ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs199476118

ND1 ; ND2

0.810

GeneticVariation

UNIPROT

An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy.

1417830

1992

dbSNP:

rs199476118

ND1 ; ND2

0.810

GeneticVariation

UNIPROT

A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.

1674640

1991

dbSNP:

rs199476118

ND1 ; ND2

0.810

CausalMutation

CLINVAR

Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees.

1928099

1991

dbSNP:

rs199476118

ND1 ; ND2

0.810

GeneticVariation

UNIPROT

Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation.

2018041

1991

dbSNP:

rs199476118

ND1 ; ND2

0.810

GeneticVariation

UNIPROT

Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees.

1928099

1991

dbSNP:

rs199476118

ND1 ; ND2

0.810

GeneticVariation

UNIPROT

Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy.

1900003

1991

dbSNP:

rs199476118

ND1 ; ND2

0.810

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

dbSNP:

rs199476119

COX1 ; ND1 ; ND2

0.800

GeneticVariation

UNIPROT

An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy.

1417830

1992

dbSNP:

rs41460449

ND1 ; ND2

0.800

GeneticVariation

UNIPROT

An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy.

1417830

1992

dbSNP:

rs199476119

COX1 ; ND1 ; ND2

0.800

GeneticVariation

UNIPROT

Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees.

1928099

1991

dbSNP:

rs199476119

COX1 ; ND1 ; ND2

0.800

GeneticVariation

UNIPROT

A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.

1674640

1991

dbSNP:

rs199476119

COX1 ; ND1 ; ND2

0.800

GeneticVariation

UNIPROT

Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy.

1900003

1991

dbSNP:

rs199476119

COX1 ; ND1 ; ND2

0.800

GeneticVariation

UNIPROT

Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation.

2018041

1991

dbSNP:

rs199476119

COX1 ; ND1 ; ND2

0.800

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

dbSNP:

rs41460449

ND1 ; ND2

0.800

GeneticVariation

UNIPROT

Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees.

1928099

1991

dbSNP:

rs41460449

ND1 ; ND2

0.800

GeneticVariation

UNIPROT

A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.

1674640

1991

dbSNP:

rs41460449

ND1 ; ND2

0.800

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

dbSNP:

rs41460449

ND1 ; ND2

0.800

GeneticVariation

UNIPROT

Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation.

2018041

1991

dbSNP:

rs41460449

ND1 ; ND2

0.800

GeneticVariation

UNIPROT

Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy.

1900003

1991

dbSNP:

rs199476119

COX1 ; ND1 ; ND2

0.800

CausalMutation

CLINVAR

dbSNP:

rs41460449

ND1 ; ND2

0.800

CausalMutation

CLINVAR

dbSNP:

rs28616230

COX1 ; ND1 ; ND2

0.700

GeneticVariation

CLINVAR

Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions.

24884847

2014

dbSNP:

rs397515507

ND1 ; ND2

0.700

GeneticVariation

CLINVAR

Leber's hereditary optic neuropathy caused by the homoplasmic ND1 m.3635G>A mutation in nine Han Chinese families.

25194554

2014

dbSNP:

rs28616230

COX1 ; ND1 ; ND2

0.700

GeneticVariation

CLINVAR

Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy.

22879922

2012

dbSNP:

rs28616230

COX1 ; ND1 ; ND2

0.700

GeneticVariation

CLINVAR

Novel A14841G mutation is associated with high penetrance of LHON/C4171A family.

19555656

2009