DisGeNET - a database of gene-disease associations

MPV17, mitochondrial inner membrane protein MPV17, 4358

N. diseases: 134; N. variants: 31

Disease: NAVAJO NEUROHEPATOPATHY ×

Variant: rs375401970 ×

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:

rs375401970

Entrez Id:	4358
Gene Symbol:	MPV17

MPV17

CUI:	C1850406
Disease:

NAVAJO NEUROHEPATOPATHY

0.800

GeneticVariation

CLINVAR

Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy.

23829229

2014

dbSNP:

rs375401970

Entrez Id:	4358
Gene Symbol:	MPV17

MPV17

CUI:	C1850406
Disease:

NAVAJO NEUROHEPATOPATHY

0.800

GeneticVariation

CLINVAR

Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.

23714749

2014

dbSNP:

rs375401970

Entrez Id:	4358
Gene Symbol:	MPV17

MPV17

CUI:	C1850406
Disease:

NAVAJO NEUROHEPATOPATHY

0.800

GeneticVariation

UNIPROT