Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.730 Biomarker 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
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.730 Biomarker 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
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.730 Biomarker CLINGEN SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy. 19465911

2009
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.730 Biomarker CLINGEN Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II. 16798039

2006
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.730 Biomarker CLINGEN Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome. 10746566

2000
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.730 Biomarker CLINGEN Suppression of sdh1 mutations by the SDH1b gene of Saccharomyces cerevisiae. 9730279

1998
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.730 Biomarker CLINGEN Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. 7550341

1995
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.730 Biomarker CLINGEN SDH1, the gene encoding the succinate dehydrogenase flavoprotein subunit from Saccharomyces cerevisiae. 1511876

1992
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.500 Biomarker CLINGEN Familial SDHA mutation associated with pituitary adenoma and pheochromocytoma/paraganglioma. 23633203

2013
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.500 Biomarker CLINGEN A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma. 23666964

2013
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.500 Biomarker CLINGEN Germline SDHA mutation detected by next-generation sequencing in a young index patient with large paraganglioma. 23750034

2013
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.500 Biomarker CLINGEN SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas. 21752896

2011
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.500 Biomarker CLINGEN Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma. 21784903

2011
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.500 Biomarker CLINGEN SDHA is a tumor suppressor gene causing paraganglioma. 20484225

2010
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.500 Biomarker CLINGEN Mitochondrial succinate is instrumental for HIF1alpha nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions. 16195397

2005
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.500 Biomarker CLINGEN A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas. 16103922

2005
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.300 Biomarker CLINGEN SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors. 24781757

2015
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors. 24781757

2015
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		0.300 Biomarker CLINGEN SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors. 24781757

2015
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.300 Biomarker CLINGEN SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors. 24781757

2015
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		0.300 Biomarker CLINGEN SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors. 24781757

2015
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		0.300 Biomarker CLINGEN SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors. 24781757

2015
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.300 Biomarker CLINGEN Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency. 22972948

2012
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency. 22972948

2012
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		0.300 Biomarker CLINGEN Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency. 22972948

2012