DisGeNET - a database of gene-disease associations

Optic Atrophy, Hereditary, Leber, C0917796

Gene: ND5 ×

Source: UNIPROT ×

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:

rs193302933

ND3 ; ND4 ; ND4L ; ND5

0.700

GeneticVariation

UNIPROT

dbSNP:

rs199476104

CYTB ; ND5 ; ND6

0.810

GeneticVariation

UNIPROT

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

1417830

1992

dbSNP:

rs199476108

CYTB ; ND5 ; ND6

0.810

GeneticVariation

UNIPROT

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

1417830

1992

dbSNP:

rs199476106

CYTB ; ND5 ; ND6

0.800

GeneticVariation

UNIPROT

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

1417830

1992

dbSNP:

rs397515506

CYTB ; ND5 ; ND6

0.800

GeneticVariation

UNIPROT

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

1417830

1992

dbSNP:

rs869025186

CYTB ; ND5 ; ND6

0.700

GeneticVariation

UNIPROT

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

1417830

1992

dbSNP:

rs267606899

CYTB ; ND5

0.800

GeneticVariation

UNIPROT

Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy.

1732158

1992

dbSNP:

rs387906425

CYTB ; ND5 ; ND6

0.800

GeneticVariation

UNIPROT

Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy.

1732158

1992

dbSNP:

rs28359178

CYTB ; ND5 ; ND6

0.700

GeneticVariation

UNIPROT

Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy.

1732158

1992

dbSNP:

rs267606899

CYTB ; ND5

0.800

GeneticVariation

UNIPROT

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

1900003

1991

dbSNP:

rs387906425

CYTB ; ND5 ; ND6

0.800

GeneticVariation

UNIPROT

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

1900003

1991

dbSNP:

rs28359178

CYTB ; ND5 ; ND6

0.700

GeneticVariation

UNIPROT

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

1900003

1991

dbSNP:

rs199476112

ND4 ; ND5

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:

rs199476112

ND4 ; ND5

0.810

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

dbSNP:

rs199476112

ND4 ; ND5

0.810

GeneticVariation

UNIPROT

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.

3201231

1988

dbSNP:

rs267606899

CYTB ; ND5

0.800

GeneticVariation

UNIPROT

When does bilateral optic atrophy become Leber hereditary optic neuropathy?

8213825

1993

dbSNP:

rs387906425

CYTB ; ND5 ; ND6

0.800

GeneticVariation

UNIPROT

When does bilateral optic atrophy become Leber hereditary optic neuropathy?

8213825

1993

dbSNP:

rs28359178

CYTB ; ND5 ; ND6

0.700

GeneticVariation

UNIPROT

When does bilateral optic atrophy become Leber hereditary optic neuropathy?

8213825

1993

dbSNP:

rs199476104

CYTB ; ND5 ; ND6

0.810

GeneticVariation

UNIPROT

Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 gene.

8854108

1996

dbSNP:

rs199476108

CYTB ; ND5 ; ND6

0.810

GeneticVariation

UNIPROT

Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 gene.

8854108

1996

dbSNP:

rs199476106

CYTB ; ND5 ; ND6

0.800

GeneticVariation

UNIPROT

Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 gene.

8854108

1996

dbSNP:

rs397515506

CYTB ; ND5 ; ND6

0.800

GeneticVariation

UNIPROT

Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 gene.

8854108

1996

dbSNP:

rs869025186

CYTB ; ND5 ; ND6

0.700

GeneticVariation

UNIPROT

Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 gene.

8854108

1996

dbSNP:

rs199476104

CYTB ; ND5 ; ND6

0.810

GeneticVariation

UNIPROT

Leber's hereditary optic neuropathy in Indonesia: two families with the mtDNA 11778G>A and 14484T>C mutations.

9452107

1998

dbSNP: