Source: CURATED

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
mitochondrial inner membrane protein MPV17 0.595 0.577 9.7E-11
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY
disease 0.760 None 1.000 18 27 2006 2019
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
mitochondrial inner membrane protein MPV17 0.595 0.577 9.7E-11
CUI: C0344307
Disease: Absence of pain sensation
Absence of pain sensation
phenotype 0.400 None 1.000 1 0 2012 2012
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
mitochondrial inner membrane protein MPV17 0.595 0.577 9.7E-11
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.400 limited 0 0
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
mitochondrial inner membrane protein MPV17 0.595 0.577 9.7E-11
CUI: C0085605
Disease: Liver Failure
Liver Failure
disease 0.370 strong 1.000 1 0 2007 2019
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
mitochondrial inner membrane protein MPV17 0.595 0.577 9.7E-11
CUI: C0008370
Disease: Cholestasis
Cholestasis
disease 0.310 strong 1.000 1 0 2008 2014
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
mitochondrial inner membrane protein MPV17 0.595 0.577 9.7E-11
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis
disease 0.310 None 1.000 1 0 2009 2009
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
mitochondrial inner membrane protein MPV17 0.595 0.577 9.7E-11
Mitochondrial Respiratory Chain Deficiencies
disease 0.300 None 1.000 1 0 2009 2009
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
mitochondrial inner membrane protein MPV17 0.595 0.577 9.7E-11
Electron Transport Chain Deficiencies, Mitochondrial
disease 0.300 None 1.000 1 0 2009 2009
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
mitochondrial inner membrane protein MPV17 0.595 0.577 9.7E-11
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.300 None 1.000 1 0 2009 2009
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
mitochondrial inner membrane protein MPV17 0.595 0.577 9.7E-11
Oxidative Phosphorylation Deficiencies
disease 0.300 None 1.000 1 0 2009 2009
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
mitochondrial inner membrane protein MPV17 0.595 0.577 9.7E-11
CUI: C0549567
Disease: Pigmentation Disorders
Pigmentation Disorders
group 0.300 None 1.000 1 0 2009 2009
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
mitochondrial inner membrane protein MPV17 0.595 0.577 9.7E-11
CUI: C0086432
Disease: Hyalinosis, Segmental Glomerular
Hyalinosis, Segmental Glomerular
disease 0.300 None 1.000 1 0 2009 2009
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
mitochondrial inner membrane protein MPV17 0.595 0.577 9.7E-11
CUI: C0036305
Disease: Schamberg Disease
Schamberg Disease
phenotype 0.300 None 1.000 1 0 2009 2009
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
mitochondrial inner membrane protein MPV17 0.595 0.577 9.7E-11
CUI: C0033687
Disease: Proteinuria
Proteinuria
phenotype 0.300 None 1.000 1 0 2009 2009
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
mitochondrial inner membrane protein MPV17 0.595 0.577 9.7E-11
CUI: C0022283
Disease: Incontinentia Pigmenti Achromians
Incontinentia Pigmenti Achromians
disease 0.300 None 1.000 1 0 2009 2009
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
mitochondrial inner membrane protein MPV17 0.595 0.577 9.7E-11
CUI: C0009197
Disease: Cochlear Diseases
Cochlear Diseases
group 0.300 None 1.000 1 0 2009 2009
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
mitochondrial inner membrane protein MPV17 0.595 0.577 9.7E-11
Navajo Familial Neurogenic Arthropathy
disease 0.300 None 0 0