DisGeNET - a database of gene-disease associations

CYTB, cytochrome b, 4519

N. diseases: 166; N. variants: 83

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

BEFREE

A novel mitochondrial DNA nucleotide transversion, C14482A (M64I), different from the previously reported C14482G (M64I), was found to cause Leber's hereditary optic neuropathy with visual recovery in an Italian family.

12112086

2002

dbSNP:

rs199476104

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

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

11133798

2001

dbSNP:

rs199476104

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

CYTB;ND5;ND6

CUI:	C0917796
Disease:

Optic Atrophy, Hereditary, Leber

0.810

GeneticVariation

BEFREE

Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy.

10072046

1999

dbSNP:

rs199476104

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: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene.

10447650

1999

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: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene.

10447650

1999

dbSNP:

rs199476104

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:

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:

rs199476104

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: 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

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: 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

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

CYTB;ND5;ND6

CUI:	C0917796
Disease:

Optic Atrophy, Hereditary, Leber

0.810

CausalMutation

CLINVAR

Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation.

8470982

1993

dbSNP:

rs199476104

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

CYTB;ND5;ND6

CUI:	C0917796
Disease:

Optic Atrophy, Hereditary, Leber

0.810

GeneticVariation

UNIPROT

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

1417830

1992

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

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

1417830

1992

dbSNP:

rs199476108

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

CYTB;ND5;ND6

CUI:	C0917796
Disease:

Optic Atrophy, Hereditary, Leber

0.810

CausalMutation

CLINVAR

dbSNP:

rs199476108

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

CYTB;ND5;ND6

CUI:	C0917796
Disease:

Optic Atrophy, Hereditary, Leber

0.810

CausalMutation

CLINVAR

dbSNP:

rs267606894

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

CYTB;ND5

CUI:	C0162671
Disease:

MELAS Syndrome

0.800

GeneticVariation

UNIPROT

Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease.

17400793

2007

dbSNP:

rs267606895

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

CYTB;ND5

CUI:	C0162671
Disease:

MELAS Syndrome

0.800

GeneticVariation

UNIPROT

Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease.

17400793

2007

dbSNP:

rs267606897

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

CYTB;ND5

CUI:	C0162671
Disease:

MELAS Syndrome

0.800

GeneticVariation

UNIPROT

Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease.

17400793

2007

dbSNP:

rs267606898

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

CYTB;ND5

CUI:	C0162671
Disease:

MELAS Syndrome

0.800

GeneticVariation

UNIPROT

Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease.

17400793

2007

dbSNP:

rs199476109

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

CYTB;ND5;ND6

CUI:	C0023264
Disease:

Leigh Disease

0.800

CausalMutation

CLINVAR

Free radicals-mediated damage in transmitochondrial cells harboring the T14487C mutation in the ND6 gene of mtDNA.

16337195

2005

dbSNP:

rs267606894

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

CYTB;ND5

CUI:	C0162671
Disease:

MELAS Syndrome

0.800

GeneticVariation

UNIPROT

Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF.

15767514

2005

dbSNP:

rs267606895

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

CYTB;ND5

CUI:	C0162671
Disease:

MELAS Syndrome

0.800

GeneticVariation

UNIPROT

Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF.

15767514

2005

dbSNP:

rs267606897

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

CYTB;ND5

CUI:	C0162671
Disease:

MELAS Syndrome

0.800

GeneticVariation

UNIPROT

Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF.

15767514

2005

dbSNP:

rs267606898

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

CYTB;ND5

CUI:	C0162671
Disease:

MELAS Syndrome

0.800

GeneticVariation

UNIPROT

Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF.

15767514

2005

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