Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
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0.230 | Biomarker | disease | BEFREE | MPV17 hepatocerebral mitochondrial DNA depletion syndrome presenting as acute flaccid paralysis - A case report. | 28673863 | 2017 | ||||
|
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 | ||||
|
0.230 | Biomarker | disease | BEFREE | MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations. | 20074988 | 2010 | ||||
|
0.230 | Biomarker | disease | MGD | Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice. | 18818194 | 2009 | ||||
|
0.230 | Biomarker | disease | MGD | Course of renal injury in the Mpv17-deficient transgenic mouse. | 10820170 | 2000 | ||||
|
0.230 | Biomarker | disease | MGD | Age-dependent hypertension in Mpv17-deficient mice, a transgenic model of glomerulosclerosis and inner ear disease. | 10673153 | 1999 | ||||
|
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 | ||||
|
0.230 | Biomarker | disease | MGD | Functional rescue of the glomerulosclerosis phenotype in Mpv17 mice by transgenesis with the human Mpv17 homologue. | 7564095 | 1995 | ||||
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0.230 | Biomarker | disease | MGD | Transgenic mouse model of kidney disease: insertional inactivation of ubiquitously expressed gene leads to nephrotic syndrome. | 1696177 | 1990 |