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:

rs199476134

ATP6 ; COX3 ; ND3 ; ND4 ; ND4L

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

0.700

GeneticVariation

UNIPROT

A mitochondrial mutation at nt 9101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with Leber hereditary optic neuroretinopathy.

7726182

1995

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:

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:

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:

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:

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

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

1900003

1991

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:

rs28359178

CYTB ; ND5 ; ND6

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

0.700

GeneticVariation

UNIPROT

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

1900003

1991

dbSNP:

rs28357980

COX1 ; ND2

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

0.700

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

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

UNIPROT

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

1417830

1992

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:

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:

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:

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:

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:

rs869025186

CYTB ; ND5 ; ND6

CUI:	C0917796
Disease:	Optic Atrophy, Hereditary, Leber

Optic Atrophy, Hereditary, Leber

0.700

GeneticVariation

UNIPROT

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

1417830

1992