Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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 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 Mutations affecting MPV17 are associated with mitochondrial DNA depletion syndrome (MDDS). 23045398 2012
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 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 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 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 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 MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. 16582910 2006