Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs140992482
rs140992482
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1112256
Disease:
Sensorimotor neuropathy 		0.010 GeneticVariation BEFREE Recently, two patients with juvenile-onset peripheral sensorimotor neuropathy associated with an MVP17 c.122G>A (p.Arg41Gln) variant have been reported. 30298599 2019
dbSNP: rs121909725
rs121909725
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY 		0.700 GeneticVariation UNIPROT The zebrafish orthologue of the human hepatocerebral disease gene MPV17 plays pleiotropic roles in mitochondria. 30833296 2019
dbSNP: rs762327729
rs762327729
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY 		0.700 GeneticVariation UNIPROT The zebrafish orthologue of the human hepatocerebral disease gene MPV17 plays pleiotropic roles in mitochondria. 30833296 2019
dbSNP: rs1057524366
rs1057524366
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY 		C 0.700 GeneticVariation CLINVAR MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects. 29282788 2018
dbSNP: rs121909725
rs121909725
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY 		0.700 GeneticVariation UNIPROT MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects. 29282788 2018
dbSNP: rs1553383467
rs1553383467
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY 		T 0.700 GeneticVariation CLINVAR MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects. 29282788 2018
dbSNP: rs762327729
rs762327729
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY 		0.700 GeneticVariation UNIPROT MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects. 29282788 2018
dbSNP: rs121909725
rs121909725
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY 		0.700 GeneticVariation UNIPROT Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA. 28207748 2017
dbSNP: rs762327729
rs762327729
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY 		0.700 GeneticVariation UNIPROT Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA. 28207748 2017
dbSNP: rs121909725
rs121909725
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY 		0.700 GeneticVariation UNIPROT MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome. 27536553 2016
dbSNP: rs121909725
rs121909725
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY 		0.700 GeneticVariation UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492 2016
dbSNP: rs762327729
rs762327729
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY 		0.700 GeneticVariation UNIPROT MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome. 27536553 2016
dbSNP: rs762327729
rs762327729
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY 		0.700 GeneticVariation UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492 2016
dbSNP: rs121909725
rs121909725
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY 		0.700 GeneticVariation UNIPROT The Human Mitochondrial DNA Depletion Syndrome Gene MPV17 Encodes a Non-selective Channel That Modulates Membrane Potential. 25861990 2015
dbSNP: rs762327729
rs762327729
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY 		0.700 GeneticVariation UNIPROT The Human Mitochondrial DNA Depletion Syndrome Gene MPV17 Encodes a Non-selective Channel That Modulates Membrane Potential. 25861990 2015
dbSNP: rs121909725
rs121909725
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY 		0.700 GeneticVariation UNIPROT Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy. 23829229 2014
dbSNP: rs121909725
rs121909725
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY 		0.700 GeneticVariation UNIPROT Mitochondrial DNA depletion syndrome causing liver failure. 25129007 2014
dbSNP: rs121909725
rs121909725
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY 		0.700 GeneticVariation UNIPROT Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene. 23714749 2014
dbSNP: rs762327729
rs762327729
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY 		0.700 GeneticVariation UNIPROT Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy. 23829229 2014
dbSNP: rs762327729
rs762327729
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY 		0.700 GeneticVariation UNIPROT Mitochondrial DNA depletion syndrome causing liver failure. 25129007 2014
dbSNP: rs762327729
rs762327729
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY 		0.700 GeneticVariation UNIPROT Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene. 23714749 2014
dbSNP: rs863224072
rs863224072
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY 		A 0.700 GeneticVariation CLINVAR Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene. 23714749 2014
dbSNP: rs4665965
rs4665965
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C0003868
Disease:
Arthritis, Gouty 		0.700 GeneticVariation GWASDB Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. 23263486 2013
dbSNP: rs4665965
rs4665965
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C0018099
Disease:
Gout 		0.700 GeneticVariation GWASDB Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. 23263486 2013
dbSNP: rs1122227
rs1122227
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C0202236
Disease:
Triglycerides measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012