Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4021753
Disease: Abnormality of the immune system
Abnormality of the immune system
0.100 Biomarker disease HPO
CUI: C0344307
Disease: Absence of pain sensation
Absence of pain sensation
0.400 Biomarker phenotype HPO
CUI: C0344307
Disease: Absence of pain sensation
Absence of pain sensation
0.400 Biomarker phenotype GENOMICS_ENGLAND MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle. 22508010 2012
CUI: C0344307
Disease: Absence of pain sensation
Absence of pain sensation
0.400 Biomarker phenotype GENOMICS_ENGLAND MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle. 22508010 2012
CUI: C0234146
Disease: Absent reflex
Absent reflex
0.100 Biomarker phenotype HPO
CUI: C0234146
Disease: Absent reflex
Absent reflex
0.100 CausalMutation phenotype CLINVAR
CUI: C0234146
Disease: Absent reflex
Absent reflex
0.100 GeneticVariation phenotype CLINVAR
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
0.100 Biomarker phenotype HPO
CUI: C4732740
Disease: Acral ulceration
Acral ulceration
0.100 Biomarker phenotype HPO
CUI: C3697716
Disease: Acute flaccid paralysis
Acute flaccid paralysis
0.010 Biomarker phenotype BEFREE MPV17 hepatocerebral mitochondrial DNA depletion syndrome presenting as acute flaccid paralysis - A case report. 28673863 2017
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
0.010 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
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
0.200 Biomarker disease MGD Transgenic mouse model of kidney disease: insertional inactivation of ubiquitously expressed gene leads to nephrotic syndrome. 1696177 1990
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
0.200 Biomarker disease MGD Functional rescue of the glomerulosclerosis phenotype in Mpv17 mice by transgenesis with the human Mpv17 homologue. 7564095 1995
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
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
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
0.200 Biomarker disease MGD Course of renal injury in the Mpv17-deficient transgenic mouse. 10820170 2000
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
0.200 Biomarker disease MGD Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice. 18818194 2009
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
0.200 Biomarker disease MGD Age-dependent hypertension in Mpv17-deficient mice, a transgenic model of glomerulosclerosis and inner ear disease. 10673153 1999
Alport Syndrome, Autosomal Recessive
0.200 Biomarker disease MGD Transgenic mouse model of kidney disease: insertional inactivation of ubiquitously expressed gene leads to nephrotic syndrome. 1696177 1990
Alport Syndrome, Autosomal Recessive
0.200 Biomarker disease MGD Age-dependent hypertension in Mpv17-deficient mice, a transgenic model of glomerulosclerosis and inner ear disease. 10673153 1999
Alport Syndrome, Autosomal Recessive
0.200 Biomarker disease MGD Course of renal injury in the Mpv17-deficient transgenic mouse. 10820170 2000
Alport Syndrome, Autosomal Recessive
0.200 Biomarker disease MGD Functional rescue of the glomerulosclerosis phenotype in Mpv17 mice by transgenesis with the human Mpv17 homologue. 7564095 1995
Alport Syndrome, Autosomal Recessive
0.200 Biomarker disease MGD Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice. 18818194 2009
Alport Syndrome, Autosomal Recessive
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 Course of renal injury in the Mpv17-deficient transgenic mouse. 10820170 2000
CUI: C2931254
Disease: Alport syndrome, recessive type
Alport syndrome, recessive type
0.200 Biomarker disease MGD Transgenic mouse model of kidney disease: insertional inactivation of ubiquitously expressed gene leads to nephrotic syndrome. 1696177 1990