Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1716
Gene Symbol: DGUOK
DGUOK
0.530 Biomarker disease RGD A Screen Using iPSC-Derived Hepatocytes Reveals NAD+ as a Potential Treatment for mtDNA Depletion Syndrome. 30404003 2018
Entrez Id: 1716
Gene Symbol: DGUOK
DGUOK
0.530 Biomarker disease CTD_human The Deoxynucleoside Triphosphate Triphosphohydrolase Activity of SAMHD1 Protein Contributes to the Mitochondrial DNA Depletion Associated with Genetic Deficiency of Deoxyguanosine Kinase. 26342080 2015
Entrez Id: 1716
Gene Symbol: DGUOK
DGUOK
0.530 GeneticVariation disease BEFREE Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome. 23141463 2012
Entrez Id: 1716
Gene Symbol: DGUOK
DGUOK
0.530 GeneticVariation disease BEFREE The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome. 19394258 2009
Entrez Id: 1716
Gene Symbol: DGUOK
DGUOK
0.530 GeneticVariation disease BEFREE Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria. 15887277 2005
Entrez Id: 25939
Gene Symbol: SAMHD1
SAMHD1
0.300 Biomarker disease CTD_human The Deoxynucleoside Triphosphate Triphosphohydrolase Activity of SAMHD1 Protein Contributes to the Mitochondrial DNA Depletion Associated with Genetic Deficiency of Deoxyguanosine Kinase. 26342080 2015
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
0.230 Biomarker disease BEFREE MPV17 hepatocerebral mitochondrial DNA depletion syndrome presenting as acute flaccid paralysis - A case report. 28673863 2017
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
0.230 GeneticVariation disease BEFREE Interestingly, overexpression of Odc1p was also shown previously to rescue yeast models of mitochondrial diseases caused by defects in the assembly of ATP synthase and by mutations in the MPV17 protein that result in hepatocerebral mitochondrial DNA depletion syndrome. 28188263 2017
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
0.230 Biomarker disease BEFREE MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations. 20074988 2010
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
0.230 Biomarker disease MGD Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice. 18818194 2009
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
0.230 Biomarker disease MGD Course of renal injury in the Mpv17-deficient transgenic mouse. 10820170 2000
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
0.230 Biomarker disease MGD Age-dependent hypertension in Mpv17-deficient mice, a transgenic model of glomerulosclerosis and inner ear disease. 10673153 1999
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
0.230 Biomarker disease MGD Glomerular overproduction of oxygen radicals in Mpv17 gene-inactivated mice causes podocyte foot process flattening and proteinuria: A model of steroid-resistant nephrosis sensitive to radical scavenger therapy. 10233845 1999
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
0.230 Biomarker disease MGD Functional rescue of the glomerulosclerosis phenotype in Mpv17 mice by transgenesis with the human Mpv17 homologue. 7564095 1995
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
0.230 Biomarker disease MGD Transgenic mouse model of kidney disease: insertional inactivation of ubiquitously expressed gene leads to nephrotic syndrome. 1696177 1990
Entrez Id: 7019
Gene Symbol: TFAM
TFAM
0.100 GeneticVariation disease CLINVAR