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 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
0.820 GeneticVariation BEFREE In addition, a homozygous p.R50Q mutation has been identified in patients with Navajo neurohepatopathy. 20074988 2010
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: 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
T 0.800 CausalMutation CLINVAR
dbSNP: rs121909723
rs121909723
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
A 0.800 CausalMutation CLINVAR Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology. 25016221 2014
dbSNP: rs267607256
rs267607256
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
C 0.800 CausalMutation CLINVAR
dbSNP: rs267607257
rs267607257
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
G 0.800 CausalMutation CLINVAR
dbSNP: rs267607258
rs267607258
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
A 0.800 CausalMutation CLINVAR Adult-Onset Fatal Neurohepatopathy in a Woman Caused by MPV17 Mutation. 24190800 2014
dbSNP: rs267607258
rs267607258
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
A 0.800 CausalMutation CLINVAR A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492 2016
dbSNP: rs267607258
rs267607258
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
A 0.800 CausalMutation CLINVAR MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome. 27536553 2016
dbSNP: rs267607258
rs267607258
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
A 0.800 CausalMutation CLINVAR MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects. 29282788 2018
dbSNP: rs267607258
rs267607258
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
A 0.800 CausalMutation CLINVAR The Human Mitochondrial DNA Depletion Syndrome Gene MPV17 Encodes a Non-selective Channel That Modulates Membrane Potential. 25861990 2015
dbSNP: rs267607258
rs267607258
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
A 0.800 CausalMutation CLINVAR MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations. 20074988 2010
dbSNP: rs267607258
rs267607258
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
A 0.800 CausalMutation CLINVAR Mitochondrial DNA depletion syndrome causing liver failure. 25129007 2014
dbSNP: rs267607258
rs267607258
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
A 0.800 CausalMutation CLINVAR MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle. 22508010 2012
dbSNP: rs267607258
rs267607258
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
A 0.800 CausalMutation CLINVAR Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene. 23714749 2014
dbSNP: rs267607259
rs267607259
Entrez Id: 4358;7349
Gene Symbol: MPV17;UCN
MPV17;UCN
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
T 0.800 CausalMutation CLINVAR
dbSNP: rs267607260
rs267607260
Entrez Id: 4358;7349
Gene Symbol: MPV17;UCN
MPV17;UCN
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
A 0.800 GeneticVariation CLINVAR 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: rs267607260
rs267607260
Entrez Id: 4358;7349
Gene Symbol: MPV17;UCN
MPV17;UCN
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
A 0.800 CausalMutation CLINVAR
dbSNP: rs375401970
rs375401970
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
C 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
rs375401970
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
C 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: rs886044113
rs886044113
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
A 0.800 GeneticVariation CLINVAR MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects. 29282788 2018
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: rs1064793178
rs1064793178
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
T 0.700 GeneticVariation CLINVAR