DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: Optic Atrophy, Hereditary, Leber ×

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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:

rs200613617

COX3 ; ND3 ; ND4 ; ND4L

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

0.800

GeneticVariation

UNIPROT

dbSNP:

rs267606611

ATP6 ; COX3 ; ND3 ; ND4 ; ND4L

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

0.700

GeneticVariation

UNIPROT

dbSNP:

rs200336777

CYTB ; ND6

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

0.700

GeneticVariation

UNIPROT

dbSNP:

rs193302933

ND3 ; ND4 ; ND4L ; ND5

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

0.700

GeneticVariation

UNIPROT

dbSNP:

rs1599988

COX1 ; ND1 ; ND2

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

0.700

GeneticVariation

UNIPROT

dbSNP:

rs199476112

ND4 ; ND5

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

0.810

GeneticVariation

UNIPROT

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

3201231

1988

dbSNP:

rs199476118

ND1 ; ND2

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

0.810

GeneticVariation

UNIPROT

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

1900003

1991

dbSNP:

rs199476118

ND1 ; ND2

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

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:

rs199476118

ND1 ; ND2

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

0.810

GeneticVariation

UNIPROT

Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation.

2018041

1991

dbSNP:

rs199476118

ND1 ; ND2

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

0.810

GeneticVariation

UNIPROT

Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees.

1928099

1991

dbSNP:

rs199476118

ND1 ; ND2

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

0.810

GeneticVariation

UNIPROT

A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.

1674640

1991

dbSNP:

rs199476112

ND4 ; ND5

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

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

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

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:

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

dbSNP:

rs41460449

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:

rs41460449

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:

rs41460449

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:

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:

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:

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