Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.730 Biomarker disease GENOMICS_ENGLAND SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement. 27683074 2017
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.730 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.730 Biomarker disease CLINGEN Here, we characterize four patients with isolated complex II deficiency caused by mutations in SDHA presenting with multisystem mitochondrial disease including Leigh syndrome (LS) and/or leukodystrophy. 24781757 2015
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.730 GeneticVariation disease BEFREE Here, we characterize four patients with isolated complex II deficiency caused by mutations in SDHA presenting with multisystem mitochondrial disease including Leigh syndrome (LS) and/or leukodystrophy. 24781757 2015
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.730 GeneticVariation disease UNIPROT Here, we characterize four patients with isolated complex II deficiency caused by mutations in SDHA presenting with multisystem mitochondrial disease including Leigh syndrome (LS) and/or leukodystrophy. 24781757 2015
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.730 Biomarker disease CLINGEN Only a handful of reports describe inherited SDH gene defects as a cause of paediatric mitochondrial disease, involving either SDHA (Leigh syndrome, cardiomyopathy) or SDHAF1 (infantile leukoencephalopathy). 22972948 2012
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.730 GeneticVariation disease BEFREE Only a handful of reports describe inherited SDH gene defects as a cause of paediatric mitochondrial disease, involving either SDHA (Leigh syndrome, cardiomyopathy) or SDHAF1 (infantile leukoencephalopathy). 22972948 2012
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.730 Biomarker disease CLINGEN SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy. 19465911 2009
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.730 Biomarker disease GENOMICS_ENGLAND Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA). 16361598 2006
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.730 Biomarker disease CLINGEN Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II. 16798039 2006
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.730 GeneticVariation disease BEFREE The largest subunit, SDHA, is mutated in patients with Leigh syndrome and late-onset optic atrophy, but has not as yet been identified as a factor in hereditary cancer. 16288654 2005
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.730 Biomarker disease CLINGEN Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome. 10746566 2000
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.730 GeneticVariation disease UNIPROT Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome. 10746566 2000
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.730 Biomarker disease CLINGEN Suppression of sdh1 mutations by the SDH1b gene of Saccharomyces cerevisiae. 9730279 1998
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.730 Biomarker disease CLINGEN Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. 7550341 1995
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.730 GeneticVariation disease UNIPROT Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. 7550341 1995
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.730 Biomarker disease CLINGEN SDH1, the gene encoding the succinate dehydrogenase flavoprotein subunit from Saccharomyces cerevisiae. 1511876 1992
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.730 CausalMutation disease CLINVAR
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.730 Biomarker disease CTD_human
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.700 GeneticVariation group BEFREE We hypothesize that based on the allele frequency of SDHA and KIT mutations the tumor is best regarded as SDH-deficient GIST in which the SDHA mutation represents the most likely driver mutation. 31124195 2019
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.700 GeneticVariation group BEFREE Thirty per cent are associated with SDHA germline mutation and 50% are associated with SDHC epimutation (post-zygotic promoter hypermethylation) - the hallmark of the syndromic but non-hereditary Carney triad (SDH- deficient GIST, SDH-deficient paraganglioma and pulmonary chondroma). 29239034 2018
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.700 GeneticVariation group BEFREE An alternate mechanism leading to GIST oncogenesis is deficiency in the succinate dehydrogenase (SDH) enzyme complex resulting from genetic or epigenetic inactivation of one of the four SDH subunit genes (SDHA, SDHB, SDHC, SDHD, collectively referred to as SDHX). 28768491 2017
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 GeneticVariation disease CLINVAR SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity. 28546994 2017
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement. 27683074 2017
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 CausalMutation disease CLINVAR SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity. 28546994 2017