Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
0.760 GeneticVariation disease UNIPROT The zebrafish orthologue of the human hepatocerebral disease gene MPV17 plays pleiotropic roles in mitochondria. 30833296 2019
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
0.760 GeneticVariation disease BEFREE MPV17 mutations were first reported in patients with Navajo neurohepatopathy, an autosomal recessive mitochondrial DNA depletion syndrome, characterized by early-onset liver failure, failure to thrive as well as central and peripheral neurological involvement. 30298599 2019
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
0.760 CausalMutation disease CLINVAR In 2006, pathogenic variants in MPV17 were first reported to cause infantile-onset hepatocerebral mtDNA depletion syndrome and Navajo neurohepatopathy. 29282788 2018
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
0.760 GeneticVariation disease CLINVAR In 2006, pathogenic variants in MPV17 were first reported to cause infantile-onset hepatocerebral mtDNA depletion syndrome and Navajo neurohepatopathy. 29282788 2018
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
0.760 GeneticVariation disease UNIPROT In 2006, pathogenic variants in MPV17 were first reported to cause infantile-onset hepatocerebral mtDNA depletion syndrome and Navajo neurohepatopathy. 29282788 2018
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
0.760 GeneticVariation disease BEFREE In 2006, pathogenic variants in MPV17 were first reported to cause infantile-onset hepatocerebral mtDNA depletion syndrome and Navajo neurohepatopathy. 29282788 2018
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
0.760 GeneticVariation disease UNIPROT Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA. 28207748 2017
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
0.760 CausalMutation disease CLINVAR A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492 2016
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
0.760 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
0.760 CausalMutation disease CLINVAR MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome. 27536553 2016
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
0.760 GeneticVariation disease UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492 2016
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
0.760 GeneticVariation disease UNIPROT MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome. 27536553 2016
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
0.760 GeneticVariation disease UNIPROT The Human Mitochondrial DNA Depletion Syndrome Gene MPV17 Encodes a Non-selective Channel That Modulates Membrane Potential. 25861990 2015
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
0.760 GeneticVariation disease BEFREE Mutations in MPV17 cause the autosomal recessive disorder mitochondrial DNA depletion syndrome 6 (MTDPS6), also called Navajo neurohepatopathy (NNH). 26437932 2015
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
0.760 CausalMutation disease CLINVAR The Human Mitochondrial DNA Depletion Syndrome Gene MPV17 Encodes a Non-selective Channel That Modulates Membrane Potential. 25861990 2015
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
0.760 GeneticVariation disease UNIPROT Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene. 23714749 2014
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
0.760 CausalMutation disease CLINVAR Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology. 25016221 2014
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
0.760 GeneticVariation disease CLINVAR Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene. 23714749 2014
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
0.760 GeneticVariation disease UNIPROT Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy. 23829229 2014
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
0.760 CausalMutation disease CLINVAR Mitochondrial DNA depletion syndrome causing liver failure. 25129007 2014
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
0.760 CausalMutation disease CLINVAR Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene. 23714749 2014
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
0.760 GeneticVariation disease CLINVAR Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy. 23829229 2014
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
0.760 GeneticVariation disease UNIPROT Mitochondrial DNA depletion syndrome causing liver failure. 25129007 2014
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
0.760 CausalMutation disease CLINVAR Adult-Onset Fatal Neurohepatopathy in a Woman Caused by MPV17 Mutation. 24190800 2014
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
0.760 Biomarker disease GENOMICS_ENGLAND MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle. 22508010 2012