DisGeNET - a database of gene-disease associations

Source: ALL

Gene: ND6 ×

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:

rs199476104

CYTB ; ND5 ; ND6

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

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

CYTB ; ND5 ; ND6

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

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

CYTB ; ND5 ; ND6

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

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

CYTB ; ND5 ; ND6

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

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

CYTB ; ND5 ; ND6

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

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

CYTB ; ND5 ; ND6

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

0.810

CausalMutation

CLINVAR

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

8470982

1993

dbSNP:

rs199476104

CYTB ; ND5 ; ND6

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

0.810

GeneticVariation

UNIPROT

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

1417830

1992

dbSNP:

rs199476108

CYTB ; ND5 ; ND6

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

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:

rs199476108

CYTB ; ND5 ; ND6

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

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

CYTB ; ND5 ; ND6

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

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

CYTB ; ND5 ; ND6

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

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

CYTB ; ND5 ; ND6

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

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

CYTB ; ND5 ; ND6

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

0.810

GeneticVariation

UNIPROT

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

1417830

1992

dbSNP:

rs199476108

CYTB ; ND5 ; ND6

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

0.810

CausalMutation

CLINVAR

dbSNP:

rs199476108

CYTB ; ND5 ; ND6

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

0.810

CausalMutation

CLINVAR

dbSNP:

rs199476105

CYTB ; ND5 ; ND6

CUI:	C1839040
Disease:	LEBER OPTIC ATROPHY AND DYSTONIA

LEBER OPTIC ATROPHY AND DYSTONIA

0.800

GeneticVariation

UNIPROT

Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia.

8644732

1996

dbSNP:

rs199476105

CYTB ; ND5 ; ND6

CUI:	C1839040
Disease:	LEBER OPTIC ATROPHY AND DYSTONIA

LEBER OPTIC ATROPHY AND DYSTONIA

0.800

GeneticVariation

UNIPROT

A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia.

8016139

1994

dbSNP:

rs199476105

CYTB ; ND5 ; ND6

CUI:	C1839040
Disease:	LEBER OPTIC ATROPHY AND DYSTONIA

LEBER OPTIC ATROPHY AND DYSTONIA

0.800

CausalMutation

CLINVAR

dbSNP:

rs199476106

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:

rs199476106

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:

rs199476106

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:

rs199476106

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:

rs199476106

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:

rs199476106

CYTB ; ND5 ; ND6

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

0.800

CausalMutation

CLINVAR

dbSNP:

rs199476107

CYTB ; ND5 ; ND6

CUI:	C0162671
Disease:	MELAS Syndrome

MELAS Syndrome

0.800

GeneticVariation

UNIPROT

An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome.

11781695

2001