Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909721
rs121909721
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
0.820 GeneticVariation UNIPROT The zebrafish orthologue of the human hepatocerebral disease gene MPV17 plays pleiotropic roles in mitochondria. 30833296 2019
dbSNP: rs121909721
rs121909721
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
0.820 GeneticVariation UNIPROT MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects. 29282788 2018
dbSNP: rs121909721
rs121909721
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
0.820 GeneticVariation UNIPROT Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA. 28207748 2017
dbSNP: rs121909721
rs121909721
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
0.820 GeneticVariation UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492 2016
dbSNP: rs121909721
rs121909721
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
0.820 GeneticVariation UNIPROT MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome. 27536553 2016
dbSNP: rs121909721
rs121909721
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
0.820 GeneticVariation UNIPROT The Human Mitochondrial DNA Depletion Syndrome Gene MPV17 Encodes a Non-selective Channel That Modulates Membrane Potential. 25861990 2015
dbSNP: rs121909721
rs121909721
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
0.820 GeneticVariation UNIPROT Mitochondrial DNA depletion syndrome causing liver failure. 25129007 2014
dbSNP: rs121909721
rs121909721
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
0.820 GeneticVariation UNIPROT Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene. 23714749 2014
dbSNP: rs121909721
rs121909721
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
0.820 GeneticVariation UNIPROT Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy. 23829229 2014
dbSNP: rs121909721
rs121909721
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
0.820 GeneticVariation UNIPROT In addition, a homozygous p.R50Q mutation has been identified in patients with Navajo neurohepatopathy. 20074988 2010
dbSNP: rs121909721
rs121909721
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
0.820 GeneticVariation BEFREE In addition, a homozygous p.R50Q mutation has been identified in patients with Navajo neurohepatopathy. 20074988 2010
dbSNP: rs121909721
rs121909721
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
0.820 GeneticVariation UNIPROT Fluctuating liver functions in siblings with MPV17 mutations and possible improvement associated with dietary and pharmaceutical treatments targeting respiratory chain complex II. 19520594 2009
dbSNP: rs121909721
rs121909721
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
0.820 GeneticVariation UNIPROT Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations. 18695062 2008
dbSNP: rs121909721
rs121909721
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
0.820 GeneticVariation UNIPROT Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy. 17694548 2007
dbSNP: rs121909721
rs121909721
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
0.820 GeneticVariation UNIPROT MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. 16582910 2006
dbSNP: rs121909721
rs121909721
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
0.820 GeneticVariation UNIPROT Sequencing of the MPV17 gene in six patients with NNH from five families revealed the homozygous R50Q mutation described elsewhere. 16909392 2006
dbSNP: rs121909721
rs121909721
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
0.820 GeneticVariation UNIPROT Systematic identification of human mitochondrial disease genes through integrative genomics. 16582907 2006
dbSNP: rs121909721
rs121909721
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
0.820 GeneticVariation BEFREE Sequencing of the MPV17 gene in six patients with NNH from five families revealed the homozygous R50Q mutation described elsewhere. 16909392 2006
dbSNP: rs121909721
rs121909721
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
T 0.820 CausalMutation CLINVAR
dbSNP: rs121909722
rs121909722
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: rs121909723
rs121909723
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: rs267607256
rs267607256
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: rs267607257
rs267607257
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: rs267607258
rs267607258
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: rs267607259
rs267607259
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