Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607260
rs267607260
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: rs886044113
rs886044113
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: rs121909722
rs121909722
Entrez Id: 4358;7349
Gene Symbol: MPV17;UCN
MPV17;UCN
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
0.800 GeneticVariation UNIPROT MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects. 29282788 2018
dbSNP: rs121909723
rs121909723
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
0.800 GeneticVariation UNIPROT MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects. 29282788 2018
dbSNP: rs267607256
rs267607256
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
0.800 GeneticVariation UNIPROT MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects. 29282788 2018
dbSNP: rs267607257
rs267607257
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
0.800 GeneticVariation UNIPROT 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 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
0.800 GeneticVariation UNIPROT MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects. 29282788 2018
dbSNP: rs267607259
rs267607259
Entrez Id: 4358;7349
Gene Symbol: MPV17;UCN
MPV17;UCN
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
0.800 GeneticVariation UNIPROT MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects. 29282788 2018
dbSNP: rs267607260
rs267607260
Entrez Id: 4358;7349
Gene Symbol: MPV17;UCN
MPV17;UCN
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
0.800 GeneticVariation UNIPROT MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects. 29282788 2018
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: rs886044113
rs886044113
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
0.800 GeneticVariation UNIPROT MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects. 29282788 2018
dbSNP: rs121909722
rs121909722
Entrez Id: 4358;7349
Gene Symbol: MPV17;UCN
MPV17;UCN
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
0.800 GeneticVariation UNIPROT Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA. 28207748 2017
dbSNP: rs121909723
rs121909723
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
0.800 GeneticVariation UNIPROT Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA. 28207748 2017
dbSNP: rs267607256
rs267607256
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
0.800 GeneticVariation UNIPROT Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA. 28207748 2017
dbSNP: rs267607257
rs267607257
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
0.800 GeneticVariation UNIPROT Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA. 28207748 2017
dbSNP: rs267607258
rs267607258
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
0.800 GeneticVariation UNIPROT Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA. 28207748 2017
dbSNP: rs267607259
rs267607259
Entrez Id: 4358;7349
Gene Symbol: MPV17;UCN
MPV17;UCN
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
0.800 GeneticVariation UNIPROT Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA. 28207748 2017
dbSNP: rs267607260
rs267607260
Entrez Id: 4358;7349
Gene Symbol: MPV17;UCN
MPV17;UCN
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
0.800 GeneticVariation UNIPROT Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA. 28207748 2017
dbSNP: rs886044113
rs886044113
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
0.800 GeneticVariation UNIPROT Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA. 28207748 2017
dbSNP: rs121909722
rs121909722
Entrez Id: 4358;7349
Gene Symbol: MPV17;UCN
MPV17;UCN
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
0.800 GeneticVariation UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492 2016
dbSNP: rs121909722
rs121909722
Entrez Id: 4358;7349
Gene Symbol: MPV17;UCN
MPV17;UCN
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
0.800 GeneticVariation UNIPROT MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome. 27536553 2016
dbSNP: rs121909723
rs121909723
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
0.800 GeneticVariation UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492 2016
dbSNP: rs121909723
rs121909723
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
0.800 GeneticVariation UNIPROT MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome. 27536553 2016
dbSNP: rs267607256
rs267607256
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
0.800 GeneticVariation UNIPROT MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome. 27536553 2016