Disease: NAVAJO NEUROHEPATOPATHY ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 Biomarker disease CTD_human
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 Biomarker disease GENOMICS_ENGLAND
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 GeneticVariation disease UNIPROT Systematic identification of human mitochondrial disease genes through integrative genomics. 16582907 2006
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 GeneticVariation disease UNIPROT MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. 16582910 2006
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 Biomarker disease GENOMICS_ENGLAND MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. 16582910 2006
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 GeneticVariation disease BEFREE Identification of a single missense mutation in patients with NNH confirms that the disease is probably due to a founder effect and extends the phenotypic spectrum associated with MPV17 mutations. 16909392 2006
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 GeneticVariation disease UNIPROT Identification of a single missense mutation in patients with NNH confirms that the disease is probably due to a founder effect and extends the phenotypic spectrum associated with MPV17 mutations. 16909392 2006
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 GeneticVariation disease UNIPROT Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy. 17694548 2007
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 GeneticVariation disease CLINVAR Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy. 17694548 2007
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 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: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 Biomarker disease GENOMICS_ENGLAND Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations. 18695062 2008
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 GeneticVariation disease CLINVAR Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations. 18695062 2008
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 GeneticVariation disease UNIPROT Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations. 18695062 2008
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 GeneticVariation disease CLINVAR Fluctuating liver functions in siblings with MPV17 mutations and possible improvement associated with dietary and pharmaceutical treatments targeting respiratory chain complex II. 19520594 2009
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 GeneticVariation disease UNIPROT Fluctuating liver functions in siblings with MPV17 mutations and possible improvement associated with dietary and pharmaceutical treatments targeting respiratory chain complex II. 19520594 2009
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 CausalMutation disease CLINVAR MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations. 20074988 2010
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 GeneticVariation disease UNIPROT MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations. 20074988 2010
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 GeneticVariation disease BEFREE Defects in a group of nuclear genes involved in the maintenance of mtDNA integrity may also affect the white matter; for example, mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) caused by thymidine phosphorylase deficiency, Navajo neurohepatopathy (NNH) due to MPV17 mutations, and Alpers syndrome due to defects in DNA polymerase gamma (POLG). 22422207 2012
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 Biomarker disease GENOMICS_ENGLAND MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle. 22508010 2012
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 Biomarker disease GENOMICS_ENGLAND MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle. 22508010 2012
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 CausalMutation disease CLINVAR MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle. 22508010 2012
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 GeneticVariation disease UNIPROT Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene. 23714749 2014
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 GeneticVariation disease CLINVAR Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene. 23714749 2014
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 CausalMutation disease CLINVAR Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene. 23714749 2014
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.760 GeneticVariation disease UNIPROT Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy. 23829229 2014