DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: Optic Atrophy, Hereditary, Leber ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs199476115

COX1 ; ND2

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

0.800

GeneticVariation

UNIPROT

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

1732158

1992

dbSNP:

rs199476115

COX1 ; ND2

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

0.800

GeneticVariation

UNIPROT

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

1900003

1991

dbSNP:

rs199476119

COX1 ; ND1 ; ND2

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

0.800

GeneticVariation

UNIPROT

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

1417830

1992

dbSNP:

rs199476119

COX1 ; ND1 ; ND2

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

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:

rs199476119

COX1 ; ND1 ; ND2

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

0.800

GeneticVariation

UNIPROT

A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.

1674640

1991

dbSNP:

rs199476119

COX1 ; ND1 ; ND2

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

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

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

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

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

0.800

GeneticVariation

UNIPROT

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

1900003

1991

dbSNP:

rs200613617

COX3 ; ND3 ; ND4 ; ND4L

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

0.800

GeneticVariation

UNIPROT

dbSNP:

rs267606899

CYTB ; ND5

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

0.800

GeneticVariation

UNIPROT

The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation.

16240359

2005

dbSNP:

rs267606899

CYTB ; ND5

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

0.800

GeneticVariation

UNIPROT

When does bilateral optic atrophy become Leber hereditary optic neuropathy?

8213825

1993

dbSNP:

rs267606899

CYTB ; ND5

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

0.800

GeneticVariation

UNIPROT

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

1732158

1992

dbSNP:

rs267606899

CYTB ; ND5

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

0.800

GeneticVariation

UNIPROT

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

1900003

1991

dbSNP:

rs387906425

CYTB ; ND5 ; ND6

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

0.800

GeneticVariation

UNIPROT

The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation.

16240359

2005

dbSNP:

rs387906425

CYTB ; ND5 ; ND6

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

0.800

GeneticVariation

UNIPROT

When does bilateral optic atrophy become Leber hereditary optic neuropathy?

8213825

1993

dbSNP:

rs387906425

CYTB ; ND5 ; ND6

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

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

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

0.800

GeneticVariation

UNIPROT

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

1900003

1991

dbSNP:

rs397515506

CYTB ; ND5 ; ND6

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

0.800

GeneticVariation

UNIPROT

The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy.

11133798

2001

dbSNP:

rs397515506

CYTB ; ND5 ; ND6

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

0.800

GeneticVariation

UNIPROT

Leber's hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene.

10447650

1999

dbSNP:

rs397515506

CYTB ; ND5 ; ND6

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

0.800

GeneticVariation

UNIPROT

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

9452107

1998

dbSNP:

rs397515506

CYTB ; ND5 ; ND6

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

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

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

0.800

GeneticVariation

UNIPROT

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

1417830

1992

dbSNP:

rs41460449

ND1 ; ND2

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

0.800

GeneticVariation

UNIPROT

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

1417830

1992

dbSNP:

rs41460449

ND1 ; ND2

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

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

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

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