Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense
0.100 GeneticVariation phenotype CLINVAR
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense
0.100 CausalMutation phenotype CLINVAR
CUI: C3711385
Disease: Deoxyguanosine Kinase Deficiency
Deoxyguanosine Kinase Deficiency
0.230 Biomarker disease MGD Transgenic mouse model of kidney disease: insertional inactivation of ubiquitously expressed gene leads to nephrotic syndrome. 1696177 1990
CUI: C3711385
Disease: Deoxyguanosine Kinase Deficiency
Deoxyguanosine Kinase Deficiency
0.230 Biomarker disease MGD Age-dependent hypertension in Mpv17-deficient mice, a transgenic model of glomerulosclerosis and inner ear disease. 10673153 1999
CUI: C3711385
Disease: Deoxyguanosine Kinase Deficiency
Deoxyguanosine Kinase Deficiency
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
CUI: C3711385
Disease: Deoxyguanosine Kinase Deficiency
Deoxyguanosine Kinase Deficiency
0.230 Biomarker disease BEFREE MPV17 hepatocerebral mitochondrial DNA depletion syndrome presenting as acute flaccid paralysis - A case report. 28673863 2017
CUI: C3711385
Disease: Deoxyguanosine Kinase Deficiency
Deoxyguanosine Kinase Deficiency
0.230 Biomarker disease BEFREE MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations. 20074988 2010
CUI: C3711385
Disease: Deoxyguanosine Kinase Deficiency
Deoxyguanosine Kinase Deficiency
0.230 Biomarker disease MGD Course of renal injury in the Mpv17-deficient transgenic mouse. 10820170 2000
CUI: C3711385
Disease: Deoxyguanosine Kinase Deficiency
Deoxyguanosine Kinase Deficiency
0.230 Biomarker disease MGD Functional rescue of the glomerulosclerosis phenotype in Mpv17 mice by transgenesis with the human Mpv17 homologue. 7564095 1995
CUI: C3711385
Disease: Deoxyguanosine Kinase Deficiency
Deoxyguanosine Kinase Deficiency
0.230 Biomarker disease MGD Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice. 18818194 2009
CUI: C3711385
Disease: Deoxyguanosine Kinase Deficiency
Deoxyguanosine Kinase Deficiency
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
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA
0.100 GeneticVariation disease BEFREE The aim of this study is to delineate the specific clinical, pathological, biochemical, and molecular features associated with mitochondrial DNA depletion due to MPV17 gene mutations. 17694548 2007
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA
0.100 GeneticVariation disease BEFREE We find that roy orbison is caused by an intronic defect in the gene mpv17, encoding an inner mitochondrial membrane protein that has been implicated in the human mitochondrial DNA depletion syndrome. 28760346 2017
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA
0.100 GeneticVariation disease BEFREE The role of the Mpv17 protein mutations of which cause mitochondrial DNA depletion syndrome (MDDS): lessons from homologs in different species. 25205723 2015
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA
0.100 GeneticVariation disease BEFREE Mutations in human MPV17 cause a hepatocerebral form of mitochondrial DNA depletion syndrome (MDS) hallmarked by early-onset liver failure, leading to premature death. 24247928 2014
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA
0.100 GeneticVariation disease BEFREE To determine the frequency of mitochondrial DNA depletion syndrome (MDS) in infants with cholestasis and liver failure and to further clarify the clinical, biochemical, radiologic, histopathologic, and molecular features associated with MDS due to deoxyguanosine kinase (DGUOK) and MPV17 gene mutations. 24321534 2014
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA
0.100 GeneticVariation disease BEFREE Mitochondrial DNA depletion syndrome (MDS) is characterized by a reduction in mtDNA copy number and has been associated with mutations in eight nuclear genes, including enzymes involved in mitochondrial nucleotide metabolism (POLG, TK2, DGUOK, SUCLA2, SUCLG1, PEO1) and MPV17. 18504129 2008
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA
0.100 GeneticVariation disease BEFREE Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene. 22824774 2013
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA
0.100 GeneticVariation disease BEFREE Navajo neurohepatopathy is a hepato-cerebral variant of mitochondrial DNA depletion syndrome due to a specific mutation in MPV17, a gene located on human chromosome 2p. 18261905 2008
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA
0.100 GeneticVariation disease BEFREE MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. 16582910 2006
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA
0.100 GeneticVariation disease BEFREE To describe the clinical and biological findings of two Japanese siblings with novel MPV17 gene mutations (c.451insC/c.509C > T) manifesting hepatic mitochondrial DNA depletion syndrome. 19520594 2009
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA
0.100 GeneticVariation disease BEFREE Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations. 18695062 2008
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA
0.100 GeneticVariation disease BEFREE Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene. 23714749 2014
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA
0.100 GeneticVariation disease BEFREE Mutations affecting MPV17 are associated with mitochondrial DNA depletion syndrome (MDDS). 23045398 2012
CUI: C0011991
Disease: Diarrhea
Diarrhea
0.100 Biomarker phenotype HPO