DisGeNET - a database of gene-disease associations

MELAS Syndrome, C0162671

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs267606894

CYTB ; ND5

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

CYTB ; ND5

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

CYTB ; ND5

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

CYTB ; ND5

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:

rs267606894

CYTB ; ND5

0.800

GeneticVariation

UNIPROT

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

15767514

2005

dbSNP:

rs267606895

CYTB ; ND5

0.800

GeneticVariation

UNIPROT

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

15767514

2005

dbSNP:

rs267606897

CYTB ; ND5

0.800

GeneticVariation

UNIPROT

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

15767514

2005

dbSNP:

rs267606898

CYTB ; ND5

0.800

GeneticVariation

UNIPROT

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

15767514

2005

dbSNP:

rs267606894

CYTB ; ND5

0.800

GeneticVariation

UNIPROT

Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?

12509858

2003

dbSNP:

rs267606895

CYTB ; ND5

0.800

GeneticVariation

UNIPROT

Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?

12509858

2003

dbSNP:

rs267606897

CYTB ; ND5

0.800

GeneticVariation

UNIPROT

Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?

12509858

2003

dbSNP:

rs267606898

CYTB ; ND5

0.800

GeneticVariation

UNIPROT

Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?

12509858

2003

dbSNP:

rs199476107

CYTB ; ND5 ; ND6

0.800

GeneticVariation

UNIPROT

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

11781695

2001

dbSNP:

rs267606894

CYTB ; ND5

0.800

GeneticVariation

UNIPROT

Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS.

9299505

1997

dbSNP:

rs267606895

CYTB ; ND5

0.800

GeneticVariation

UNIPROT

Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS.

9299505

1997

dbSNP:

rs267606897

CYTB ; ND5

0.800

GeneticVariation

UNIPROT

Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS.

9299505

1997

dbSNP:

rs267606898

CYTB ; ND5

0.800

GeneticVariation

UNIPROT

Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS.

9299505

1997

dbSNP:

rs199476107

CYTB ; ND5 ; ND6

0.800

CausalMutation

CLINVAR

dbSNP:

rs267606894

CYTB ; ND5

0.800

CausalMutation

CLINVAR

dbSNP:

rs267606895

CYTB ; ND5

0.800

CausalMutation

CLINVAR

dbSNP:

rs267606897

CYTB ; ND5

0.800

CausalMutation

CLINVAR

dbSNP:

rs267606898

CYTB ; ND5

0.800

CausalMutation

CLINVAR

dbSNP:

rs794726857

ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L

0.700

CausalMutation

CLINVAR

Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growth.

29350304

2018

dbSNP:

rs794726857

ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L

0.700

CausalMutation

CLINVAR

Identification of G8969>A in mitochondrial ATP6 gene that severely compromises ATP synthase function in a patient with IgA nephropathy.

27812026

2016

dbSNP:

rs199476144

ND1 ; TRNV

0.700

GeneticVariation

CLINVAR

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease.

25652200

2015