Disease: Mitochondrial Complex II Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy. 26642834 2016
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 GeneticVariation disease UNIPROT Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB. 26749241 2016
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND Complex II deficiency--a case report and review of the literature. 23322652 2013
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 GeneticVariation disease UNIPROT Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency. 22995659 2012
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency. 22995659 2012
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 GermlineCausalMutation disease ORPHANET SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy. 19465911 2009
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 GeneticVariation disease UNIPROT SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy. 19465911 2009
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy. 19465911 2009
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 Biomarker disease CTD_human
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 CausalMutation disease CLINVAR