rs1131691049, SDHB

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.700 GeneticVariation CLINVAR Immunohistochemical loss of succinate dehydrogenase subunit A (SDHA) in gastrointestinal stromal tumors (GISTs) signals SDHA germline mutation. 23282968 2013
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.700 GeneticVariation CLINVAR Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing. 23512077 2013
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.700 GeneticVariation CLINVAR Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing. 23512077 2013
PARAGANGLIOMAS 4
CUI: C1861848
Disease: PARAGANGLIOMAS 4
0.700 GeneticVariation CLINVAR Immunohistochemical loss of succinate dehydrogenase subunit A (SDHA) in gastrointestinal stromal tumors (GISTs) signals SDHA germline mutation. 23282968 2013
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.700 GeneticVariation CLINVAR Immunohistochemical loss of succinate dehydrogenase subunit A (SDHA) in gastrointestinal stromal tumors (GISTs) signals SDHA germline mutation. 23282968 2013
PARAGANGLIOMAS 4
CUI: C1861848
Disease: PARAGANGLIOMAS 4
0.700 GeneticVariation CLINVAR Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing. 23512077 2013
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.700 GeneticVariation CLINVAR Succinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in cancer. 23083876 2012
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.700 GeneticVariation CLINVAR Succinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in cancer. 23083876 2012
PARAGANGLIOMAS 4
CUI: C1861848
Disease: PARAGANGLIOMAS 4
0.700 GeneticVariation CLINVAR Succinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in cancer. 23083876 2012
PARAGANGLIOMAS 4
CUI: C1861848
Disease: PARAGANGLIOMAS 4
0.700 GeneticVariation CLINVAR R46Q mutation in the succinate dehydrogenase B gene (SDHB) in a Japanese family with both abdominal and thoracic paraganglioma following metastasis. 18362451 2008
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.700 GeneticVariation CLINVAR R46Q mutation in the succinate dehydrogenase B gene (SDHB) in a Japanese family with both abdominal and thoracic paraganglioma following metastasis. 18362451 2008
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.700 GeneticVariation CLINVAR R46Q mutation in the succinate dehydrogenase B gene (SDHB) in a Japanese family with both abdominal and thoracic paraganglioma following metastasis. 18362451 2008
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.700 GeneticVariation CLINVAR Genetic mutation screening in an italian cohort of nonsyndromic pheochromocytoma/paraganglioma patients. 17102082 2006
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.700 GeneticVariation CLINVAR Genetic mutation screening in an italian cohort of nonsyndromic pheochromocytoma/paraganglioma patients. 17102082 2006
PARAGANGLIOMAS 4
CUI: C1861848
Disease: PARAGANGLIOMAS 4
0.700 GeneticVariation CLINVAR Genetic mutation screening in an italian cohort of nonsyndromic pheochromocytoma/paraganglioma patients. 17102082 2006
PARAGANGLIOMAS 4
CUI: C1861848
Disease: PARAGANGLIOMAS 4
0.700 GeneticVariation CLINVAR Genetic testing in pheochromocytoma or functional paraganglioma. 16314641 2005
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.700 GeneticVariation CLINVAR Genetic testing in pheochromocytoma or functional paraganglioma. 16314641 2005
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.700 GeneticVariation CLINVAR Genetic testing in pheochromocytoma or functional paraganglioma. 16314641 2005
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.700 GeneticVariation CLINVAR Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. 15328326 2004
PARAGANGLIOMAS 4
CUI: C1861848
Disease: PARAGANGLIOMAS 4
0.700 GeneticVariation CLINVAR Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. 15328326 2004
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.700 GeneticVariation CLINVAR Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. 15328326 2004
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.700 GeneticVariation CLINVAR Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas. 12618761 2003
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.700 GeneticVariation CLINVAR Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. 14500403 2003
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.700 GeneticVariation CLINVAR Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas. 12618761 2003
PARAGANGLIOMAS 4
CUI: C1861848
Disease: PARAGANGLIOMAS 4
0.700 GeneticVariation CLINVAR Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. 14500403 2003