DisGeNET - a database of gene-disease associations

MPV17, mitochondrial inner membrane protein MPV17, 4358

N. diseases: 134; N. variants: 31

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:

rs267607260

Entrez Id:	4358;7349
Gene Symbol:	MPV17;UCN

MPV17;UCN

CUI:	C1850406
Disease:

NAVAJO NEUROHEPATOPATHY

0.800

GeneticVariation

UNIPROT

The zebrafish orthologue of the human hepatocerebral disease gene MPV17 plays pleiotropic roles in mitochondria.

30833296

2019

dbSNP:

rs886044113

Entrez Id:	4358
Gene Symbol:	MPV17

MPV17

CUI:	C1850406
Disease:

NAVAJO NEUROHEPATOPATHY

0.800

GeneticVariation

UNIPROT

The zebrafish orthologue of the human hepatocerebral disease gene MPV17 plays pleiotropic roles in mitochondria.

30833296

2019

dbSNP:

rs121909722

Entrez Id:	4358;7349
Gene Symbol:	MPV17;UCN

MPV17;UCN

CUI:	C1850406
Disease:

NAVAJO NEUROHEPATOPATHY

0.800

GeneticVariation

UNIPROT

MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.

29282788

2018

dbSNP:

rs121909723

Entrez Id:	4358
Gene Symbol:	MPV17

MPV17

CUI:	C1850406
Disease:

NAVAJO NEUROHEPATOPATHY

0.800

GeneticVariation

UNIPROT

MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.

29282788

2018

dbSNP:

rs267607256

Entrez Id:	4358
Gene Symbol:	MPV17

MPV17

CUI:	C1850406
Disease:

NAVAJO NEUROHEPATOPATHY

0.800

GeneticVariation

UNIPROT

MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.

29282788

2018

dbSNP:

rs267607257

Entrez Id:	4358
Gene Symbol:	MPV17

MPV17

CUI:	C1850406
Disease:

NAVAJO NEUROHEPATOPATHY

0.800

GeneticVariation

UNIPROT

MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.

29282788

2018

dbSNP:

rs267607258

Entrez Id:	4358
Gene Symbol:	MPV17

MPV17

CUI:	C1850406
Disease:

NAVAJO NEUROHEPATOPATHY

0.800

GeneticVariation

UNIPROT

MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.

29282788

2018

dbSNP:

rs267607258

Entrez Id:	4358
Gene Symbol:	MPV17

MPV17

CUI:	C1850406
Disease:

NAVAJO NEUROHEPATOPATHY

0.800

CausalMutation

CLINVAR

MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.

29282788

2018

dbSNP:

rs267607259

Entrez Id:	4358;7349
Gene Symbol:	MPV17;UCN

MPV17;UCN

CUI:	C1850406
Disease:

NAVAJO NEUROHEPATOPATHY

0.800

GeneticVariation

UNIPROT

MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.

29282788

2018

dbSNP:

rs267607260

Entrez Id:	4358;7349
Gene Symbol:	MPV17;UCN

MPV17;UCN

CUI:	C1850406
Disease:

NAVAJO NEUROHEPATOPATHY

0.800

GeneticVariation

UNIPROT

MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.

29282788

2018

dbSNP:

rs886044113

Entrez Id:	4358
Gene Symbol:	MPV17

MPV17

CUI:	C1850406
Disease:

NAVAJO NEUROHEPATOPATHY

0.800

GeneticVariation

UNIPROT

MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.

29282788

2018

dbSNP:

rs886044113

Entrez Id:	4358
Gene Symbol:	MPV17

MPV17

CUI:	C1850406
Disease:

NAVAJO NEUROHEPATOPATHY

0.800

GeneticVariation

CLINVAR

MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.

29282788

2018

dbSNP:

rs121909722

Entrez Id:	4358;7349
Gene Symbol:	MPV17;UCN

MPV17;UCN

CUI:	C1850406
Disease:

NAVAJO NEUROHEPATOPATHY

0.800

GeneticVariation

UNIPROT

Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA.

28207748

2017

dbSNP:

rs121909723

Entrez Id:	4358
Gene Symbol:	MPV17

MPV17

CUI:	C1850406
Disease:

NAVAJO NEUROHEPATOPATHY

0.800

GeneticVariation

UNIPROT

Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA.

28207748

2017

dbSNP:

rs267607256

Entrez Id:	4358
Gene Symbol:	MPV17

MPV17

CUI:	C1850406
Disease:

NAVAJO NEUROHEPATOPATHY

0.800

GeneticVariation

UNIPROT

Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA.

28207748

2017

dbSNP:

rs267607257

Entrez Id:	4358
Gene Symbol:	MPV17

MPV17

CUI:	C1850406
Disease:

NAVAJO NEUROHEPATOPATHY

0.800

GeneticVariation

UNIPROT

Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA.

28207748

2017

dbSNP:

rs267607258

Entrez Id:	4358
Gene Symbol:	MPV17

MPV17

CUI:	C1850406
Disease:

NAVAJO NEUROHEPATOPATHY

0.800

GeneticVariation

UNIPROT

Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA.

28207748

2017

dbSNP:

rs267607259

Entrez Id:	4358;7349
Gene Symbol:	MPV17;UCN

MPV17;UCN

CUI:	C1850406
Disease:

NAVAJO NEUROHEPATOPATHY

0.800

GeneticVariation

UNIPROT

Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA.

28207748

2017

dbSNP:

rs267607260

Entrez Id:	4358;7349
Gene Symbol:	MPV17;UCN

MPV17;UCN

CUI:	C1850406
Disease:

NAVAJO NEUROHEPATOPATHY

0.800

GeneticVariation

UNIPROT

Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA.

28207748

2017

dbSNP:

rs886044113

Entrez Id:	4358
Gene Symbol:	MPV17

MPV17

CUI:	C1850406
Disease:

NAVAJO NEUROHEPATOPATHY

0.800

GeneticVariation

UNIPROT

Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA.

28207748

2017

dbSNP:

rs121909722

Entrez Id:	4358;7349
Gene Symbol:	MPV17;UCN

MPV17;UCN

CUI:	C1850406
Disease:

NAVAJO NEUROHEPATOPATHY

0.800

GeneticVariation

UNIPROT

MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome.

27536553

2016

dbSNP:

rs121909722

Entrez Id:	4358;7349
Gene Symbol:	MPV17;UCN

MPV17;UCN

CUI:	C1850406
Disease:

NAVAJO NEUROHEPATOPATHY

0.800

GeneticVariation

UNIPROT

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

26741492

2016

dbSNP:

rs121909723

Entrez Id:	4358
Gene Symbol:	MPV17

MPV17

CUI:	C1850406
Disease:

NAVAJO NEUROHEPATOPATHY

0.800

GeneticVariation

UNIPROT

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

26741492

2016

dbSNP:

rs121909723

Entrez Id:	4358
Gene Symbol:	MPV17

MPV17

CUI:	C1850406
Disease:

NAVAJO NEUROHEPATOPATHY

0.800

GeneticVariation

UNIPROT

MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome.

27536553

2016

dbSNP:

rs267607256

Entrez Id:	4358
Gene Symbol:	MPV17

MPV17

CUI:	C1850406
Disease:

NAVAJO NEUROHEPATOPATHY

0.800

GeneticVariation

UNIPROT

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

26741492

2016