DisGeNET - a database of gene-disease associations

CYTB, cytochrome b, 4519

N. diseases: 166; N. variants: 83

Disease: Optic Atrophy, Hereditary, Leber ×

Source: ALL

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:

rs199476108

Entrez Id:	4519;4540;4541
Gene Symbol:	CYTB;ND5;ND6

CYTB;ND5;ND6

CUI:	C0917796
Disease:

Optic Atrophy, Hereditary, Leber

0.810

GeneticVariation

UNIPROT

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

11133798

2001

dbSNP:

rs199476108

Entrez Id:	4519;4540;4541
Gene Symbol:	CYTB;ND5;ND6

CYTB;ND5;ND6

CUI:	C0917796
Disease:

Optic Atrophy, Hereditary, Leber

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:

rs199476106

Entrez Id:	4519;4540;4541
Gene Symbol:	CYTB;ND5;ND6

CYTB;ND5;ND6

CUI:	C0917796
Disease:

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:

rs199476106

Entrez Id:	4519;4540;4541
Gene Symbol:	CYTB;ND5;ND6

CYTB;ND5;ND6

CUI:	C0917796
Disease:

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:

rs199476106

Entrez Id:	4519;4540;4541
Gene Symbol:	CYTB;ND5;ND6

CYTB;ND5;ND6

CUI:	C0917796
Disease:

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:

rs199476106

Entrez Id:	4519;4540;4541
Gene Symbol:	CYTB;ND5;ND6

CYTB;ND5;ND6

CUI:	C0917796
Disease:

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:

rs199476106

Entrez Id:	4519;4540;4541
Gene Symbol:	CYTB;ND5;ND6

CYTB;ND5;ND6

CUI:	C0917796
Disease:

Optic Atrophy, Hereditary, Leber

0.800

GeneticVariation

UNIPROT

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

1417830

1992

dbSNP:

rs267606899

Entrez Id:	4519;4540
Gene Symbol:	CYTB;ND5

CYTB;ND5

CUI:	C0917796
Disease:

Optic Atrophy, Hereditary, Leber

0.800

GeneticVariation

UNIPROT

When does bilateral optic atrophy become Leber hereditary optic neuropathy?

8213825

1993

dbSNP:

rs267606899

Entrez Id:	4519;4540
Gene Symbol:	CYTB;ND5

CYTB;ND5

CUI:	C0917796
Disease:

Optic Atrophy, Hereditary, Leber

0.800

GeneticVariation

UNIPROT

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

1900003

1991

dbSNP:

rs267606899

Entrez Id:	4519;4540
Gene Symbol:	CYTB;ND5

CYTB;ND5

CUI:	C0917796
Disease:

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

Entrez Id:	4519;4540
Gene Symbol:	CYTB;ND5

CYTB;ND5

CUI:	C0917796
Disease:

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

Entrez Id:	4519;4540;4541
Gene Symbol:	CYTB;ND5;ND6

CYTB;ND5;ND6

CUI:	C0917796
Disease:

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

Entrez Id:	4519;4540;4541
Gene Symbol:	CYTB;ND5;ND6

CYTB;ND5;ND6

CUI:	C0917796
Disease:

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

Entrez Id:	4519;4540;4541
Gene Symbol:	CYTB;ND5;ND6

CYTB;ND5;ND6

CUI:	C0917796
Disease:

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

Entrez Id:	4519;4540;4541
Gene Symbol:	CYTB;ND5;ND6

CYTB;ND5;ND6

CUI:	C0917796
Disease:

Optic Atrophy, Hereditary, Leber

0.800

GeneticVariation

UNIPROT

When does bilateral optic atrophy become Leber hereditary optic neuropathy?

8213825

1993

dbSNP:

rs397515506

Entrez Id:	4519;4540;4541
Gene Symbol:	CYTB;ND5;ND6

CYTB;ND5;ND6

CUI:	C0917796
Disease:

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

Entrez Id:	4519;4540;4541
Gene Symbol:	CYTB;ND5;ND6

CYTB;ND5;ND6

CUI:	C0917796
Disease:

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

Entrez Id:	4519;4540;4541
Gene Symbol:	CYTB;ND5;ND6

CYTB;ND5;ND6

CUI:	C0917796
Disease:

Optic Atrophy, Hereditary, Leber

0.800

GeneticVariation

UNIPROT

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

1417830

1992

dbSNP:

rs397515506

Entrez Id:	4519;4540;4541
Gene Symbol:	CYTB;ND5;ND6

CYTB;ND5;ND6

CUI:	C0917796
Disease:

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

Entrez Id:	4519;4540;4541
Gene Symbol:	CYTB;ND5;ND6

CYTB;ND5;ND6

CUI:	C0917796
Disease:

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:

rs200336777

Entrez Id:	4519;4541
Gene Symbol:	CYTB;ND6

CYTB;ND6

CUI:	C0917796
Disease:

Optic Atrophy, Hereditary, Leber

0.700

GeneticVariation

UNIPROT

dbSNP:

rs28359178

Entrez Id:	4519;4540;4541
Gene Symbol:	CYTB;ND5;ND6

CYTB;ND5;ND6

CUI:	C0917796
Disease:

Optic Atrophy, Hereditary, Leber

0.700

GeneticVariation

UNIPROT

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

1732158

1992

dbSNP:

rs28359178

Entrez Id:	4519;4540;4541
Gene Symbol:	CYTB;ND5;ND6

CYTB;ND5;ND6

CUI:	C0917796
Disease:

Optic Atrophy, Hereditary, Leber

0.700

GeneticVariation

UNIPROT

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

1900003

1991

dbSNP:

rs28359178

Entrez Id:	4519;4540;4541
Gene Symbol:	CYTB;ND5;ND6

CYTB;ND5;ND6

CUI:	C0917796
Disease:

Optic Atrophy, Hereditary, Leber

0.700

GeneticVariation

UNIPROT

When does bilateral optic atrophy become Leber hereditary optic neuropathy?

8213825

1993

dbSNP:

rs28359178

Entrez Id:	4519;4540;4541
Gene Symbol:	CYTB;ND5;ND6

CYTB;ND5;ND6

CUI:	C0917796
Disease:

Optic Atrophy, Hereditary, Leber

0.700

GeneticVariation

UNIPROT

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

16240359

2005