Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		0.700 CausalMutation CLINVAR SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity. 28546994

2017
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		0.700 GeneticVariation CLINVAR SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity. 28546994

2017
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		0.700 CausalMutation CLINVAR Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention. 28384794

2017
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.700 Biomarker BEFREE Immunohistochemically, the GISTs are CD117, DOG-1 positive, SDHA negative (if SDHA mutated), SDHA positive (if SDHA intact) and SDHB negative. 27317811

2016
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 GeneticVariation CLINVAR Protein-mediated assembly of succinate dehydrogenase and its cofactors. 25488574

2016
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 CausalMutation CLINVAR Carney triad can be (rarely) associated with germline succinate dehydrogenase defects. 26173966

2016
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		0.700 CausalMutation CLINVAR Carney triad can be (rarely) associated with germline succinate dehydrogenase defects. 26173966

2016
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		0.700 GeneticVariation CLINVAR Protein-mediated assembly of succinate dehydrogenase and its cofactors. 25488574

2016
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		0.700 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.700 GeneticVariation BEFREE SDHB immunohistochemistry is useful in characterizing GISTs with SDHA-D mutations, whereas SDHA immunohistochemistry is able to identify SDHA mutant GISTs. 25766843

2015
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.700 GeneticVariation BEFREE Gene expression analysis showed remarkable down-modulation of SDHC mRNA with respect to all other GIST samples, both SDHA-mutant and KIT/PDGFRA-mutant GIST. 26415883

2015
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.700 GeneticVariation BEFREE A novel germline mutation in SDHA identified in a rare case of gastrointestinal stromal tumor complicated with renal cell carcinoma. 26722403

2015
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.700 GeneticVariation BEFREE Good survival outcome of metastatic SDH-deficient gastrointestinal stromal tumors harboring SDHA mutations. 25188872

2015
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 CausalMutation CLINVAR Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort. 25494863

2015
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 CausalMutation CLINVAR Succinate Dehydrogenase (SDH)-Deficient Pancreatic Neuroendocrine Tumor Expands the SDH-Related Tumor Spectrum. 26259135

2015
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 CausalMutation CLINVAR SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T). 25720320

2015
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 GeneticVariation CLINVAR A novel germline mutation in SDHA identified in a rare case of gastrointestinal stromal tumor complicated with renal cell carcinoma. 26722403

2015
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 GeneticVariation CLINVAR 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: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 GeneticVariation CLINVAR SDHD immunohistochemistry: a new tool to validate SDHx mutations in pheochromocytoma/paraganglioma. 25405498

2015
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 CausalMutation CLINVAR 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: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		0.700 GeneticVariation CLINVAR 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: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		0.700 CausalMutation CLINVAR Succinate Dehydrogenase (SDH)-Deficient Pancreatic Neuroendocrine Tumor Expands the SDH-Related Tumor Spectrum. 26259135

2015
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		0.700 CausalMutation CLINVAR Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort. 25494863

2015
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		0.700 CausalMutation CLINVAR Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients. 26269449

2015