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 CausalMutation disease CLINVAR A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492 2016
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY
0.760 CausalMutation disease CLINVAR MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome. 27536553 2016
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY
0.760 CausalMutation disease CLINVAR Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology. 25016221 2014
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY
0.760 CausalMutation disease CLINVAR In 2006, pathogenic variants in MPV17 were first reported to cause infantile-onset hepatocerebral mtDNA depletion syndrome and Navajo neurohepatopathy. 29282788 2018
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY
0.760 CausalMutation disease CLINVAR Mitochondrial DNA depletion syndrome causing liver failure. 25129007 2014
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 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 CausalMutation disease CLINVAR The Human Mitochondrial DNA Depletion Syndrome Gene MPV17 Encodes a Non-selective Channel That Modulates Membrane Potential. 25861990 2015
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 CausalMutation disease CLINVAR Adult-Onset Fatal Neurohepatopathy in a Woman Caused by MPV17 Mutation. 24190800 2014
CUI: C0003079
Disease: Anisocoria
Anisocoria
0.100 CausalMutation phenotype CLINVAR
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.100 CausalMutation disease CLINVAR
CUI: C0018681
Disease: Headache
Headache
0.100 CausalMutation phenotype CLINVAR
CUI: C0020580
Disease: Hypesthesia
Hypesthesia
0.100 CausalMutation phenotype CLINVAR
CUI: C0030196
Disease: Pain in limb
Pain in limb
0.100 CausalMutation phenotype CLINVAR
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.100 CausalMutation disease CLINVAR
CUI: C0037763
Disease: Spasm
Spasm
0.100 CausalMutation phenotype CLINVAR
CUI: C0040264
Disease: Tinnitus
Tinnitus
0.100 CausalMutation phenotype CLINVAR
CUI: C0085636
Disease: Photophobia
Photophobia
0.100 CausalMutation phenotype CLINVAR
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy
0.100 CausalMutation disease CLINVAR
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
0.100 CausalMutation phenotype CLINVAR
CUI: C0234146
Disease: Absent reflex
Absent reflex
0.100 CausalMutation phenotype CLINVAR
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness
0.100 CausalMutation phenotype CLINVAR
CUI: C0241237
Disease: Difficulty standing
Difficulty standing
0.100 CausalMutation phenotype CLINVAR
CUI: C0311394
Disease: Difficulty walking
Difficulty walking
0.100 CausalMutation phenotype CLINVAR