MPV17, mitochondrial inner membrane protein MPV17, 4358
N. diseases: 134; N. variants: 31
Source: ALL
Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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0.800 | GeneticVariation | UNIPROT | The zebrafish orthologue of the human hepatocerebral disease gene MPV17 plays pleiotropic roles in mitochondria. | 30833296 | 2019 | |||||||
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0.800 | GeneticVariation | UNIPROT | MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects. | 29282788 | 2018 | |||||||
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0.800 | GeneticVariation | UNIPROT | Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA. | 28207748 | 2017 | |||||||
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0.800 | GeneticVariation | UNIPROT | MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome. | 27536553 | 2016 | |||||||
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0.800 | GeneticVariation | UNIPROT | A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. | 26741492 | 2016 | |||||||
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0.800 | GeneticVariation | UNIPROT | The Human Mitochondrial DNA Depletion Syndrome Gene MPV17 Encodes a Non-selective Channel That Modulates Membrane Potential. | 25861990 | 2015 | |||||||
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0.800 | GeneticVariation | UNIPROT | Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene. | 23714749 | 2014 | |||||||
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0.800 | GeneticVariation | UNIPROT | Mitochondrial DNA depletion syndrome causing liver failure. | 25129007 | 2014 | |||||||
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0.800 | GeneticVariation | UNIPROT | Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy. | 23829229 | 2014 | |||||||
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0.800 | GeneticVariation | UNIPROT | MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations. | 20074988 | 2010 | |||||||
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0.800 | 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 | |||||||
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0.800 | GeneticVariation | UNIPROT | Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations. | 18695062 | 2008 | |||||||
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0.800 | GeneticVariation | UNIPROT | Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy. | 17694548 | 2007 | |||||||
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0.800 | GeneticVariation | UNIPROT | Systematic identification of human mitochondrial disease genes through integrative genomics. | 16582907 | 2006 | |||||||
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0.800 | GeneticVariation | UNIPROT | Navajo neurohepatopathy is caused by a mutation in the MPV17 gene. | 16909392 | 2006 | |||||||
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0.800 | GeneticVariation | UNIPROT | MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. | 16582910 | 2006 | |||||||
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T | 0.800 | CausalMutation | CLINVAR |