Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931254
Disease: Alport syndrome, recessive type
Alport syndrome, recessive type
0.200 Biomarker disease MGD Functional rescue of the glomerulosclerosis phenotype in Mpv17 mice by transgenesis with the human Mpv17 homologue. 7564095 1995
CUI: C2931254
Disease: Alport syndrome, recessive type
Alport syndrome, recessive type
0.200 Biomarker disease MGD Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice. 18818194 2009
CUI: C2931254
Disease: Alport syndrome, recessive type
Alport syndrome, recessive type
0.200 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: C2931254
Disease: Alport syndrome, recessive type
Alport syndrome, recessive type
0.200 Biomarker disease MGD Age-dependent hypertension in Mpv17-deficient mice, a transgenic model of glomerulosclerosis and inner ear disease. 10673153 1999
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.010 Biomarker disease BEFREE Glomerulosclerosis was not correlated with adrenal morphology and neither kidney nor liver amyloidosis contributed significantly to variation in AW or ACMR on multivariate analyses. 28026881 2017
CUI: C0003079
Disease: Anisocoria
Anisocoria
0.100 CausalMutation phenotype CLINVAR
CUI: C0003079
Disease: Anisocoria
Anisocoria
0.100 GeneticVariation phenotype CLINVAR
CUI: C0442833
Disease: Arteriolar hyalinosis
Arteriolar hyalinosis
0.010 Biomarker disease BEFREE DM was significantly associated with decrease in percent eGFR (p<0.05) and increase in arteriolar hyalinosis (p=0.004), Glomerulosclerosis (p=0.03) and Interstitial fibrosis/ Tubular atrophy (p=.0001). 28379664 2017
CUI: C0878486
Disease: Arteriolosclerosis
Arteriolosclerosis
0.010 Biomarker disease BEFREE Glomerulosclerosis and arteriolosclerosis scores were significantly lower (p<0.001) in the RMR+CAA group when compared with the RMR group. 29032332 2017
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.010 Biomarker disease BEFREE Glomerulosclerosis associated more strongly with arteriosclerosis and ischemic-appearing glomeruli in the superficial region. 31278193 2019
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty
0.100 GeneticVariation disease GWASDB Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. 23263486 2013
CUI: C0004134
Disease: Ataxia
Ataxia
0.100 Biomarker phenotype HPO
CUI: C0270921
Disease: Axonal neuropathy
Axonal neuropathy
0.010 GeneticVariation disease BEFREE This report provides further evidence that MPV17 mutations should be considered in patients with pure, non-syndromic axonal neuropathy. 30298599 2019
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.100 GeneticVariation disease CLINVAR
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.100 CausalMutation disease CLINVAR
CUI: C0856863
Disease: Broad-based gait
Broad-based gait
0.100 GeneticVariation phenotype CLINVAR
CUI: C0856863
Disease: Broad-based gait
Broad-based gait
0.100 CausalMutation phenotype CLINVAR
CUI: C0008370
Disease: Cholestasis
Cholestasis
0.310 GeneticVariation disease BEFREE We identified pathogenic MPV17 and DGUOK mutations in 11 infants (6 females) representing 2.5% of the 450 cases of infantile cholestasis and 22% of the 50 cases of infantile liver failure referred to our center during the study period. 24321534 2014
CUI: C0008370
Disease: Cholestasis
Cholestasis
0.310 Biomarker disease GENOMICS_ENGLAND Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations. 18695062 2008
CUI: C1623038
Disease: Cirrhosis
Cirrhosis
0.110 Biomarker disease HPO
CUI: C1623038
Disease: Cirrhosis
Cirrhosis
0.110 GeneticVariation disease BEFREE In spite of severe mtDNA depletion, only moderate decrease in respiratory chain enzymatic activities, and mild cytoarchitectural alterations, were observed in the Mpv17(-/-) livers, but neither cirrhosis nor failure ever occurred in this organ at any age. 18818194 2009
CUI: C0009197
Disease: Cochlear Diseases
Cochlear Diseases
0.300 Biomarker group CTD_human Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice. 18818194 2009
CUI: C1843920
Disease: COENZYME Q10 DEFICIENCY
COENZYME Q10 DEFICIENCY
0.010 GeneticVariation disease BEFREE The most recently described mitochondrial myopathies are due to defects in nuclear DNA, including coenzyme Q10 deficiency and mutations in genes controlling mitochondrial DNA abundance and structure, such as POLG, TK2, and MPV17. 17053512 2006
Decreased distal sensory nerve action potential
0.100 Biomarker phenotype HPO
Decreased number of peripheral myelinated nerve fibers
0.100 Biomarker phenotype HPO