rs138996609, SDHB

N. diseases: 5
Disease: Gastrointestinal Stromal Tumors ×
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 CausalMutation CLINVAR Superiority of [68Ga]-DOTATATE PET/CT to Other Functional Imaging Modalities in the Localization of SDHB-Associated Metastatic Pheochromocytoma and Paraganglioma. 25873086 2015
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.700 CausalMutation CLINVAR Role of rapid sequence whole-body MRI screening in SDH-associated hereditary paraganglioma families. 23934599 2014
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.700 CausalMutation CLINVAR Missense mutations in the human SDHB gene increase protein degradation without altering intrinsic enzymatic function. 22835832 2012
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.700 CausalMutation CLINVAR Screening of mutations in genes that predispose to hereditary paragangliomas and pheochromocytomas. 22517554 2012
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.700 CausalMutation CLINVAR Relevance of germline mutation screening in both familial and sporadic head and neck paraganglioma for early diagnosis and clinical management. 20208144 2010
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.700 CausalMutation CLINVAR The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. 19454582 2009
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.700 CausalMutation CLINVAR Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out. 19351833 2009
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.700 CausalMutation CLINVAR Germline SDHB mutations are common in patients with apparently sporadic sympathetic paragangliomas. 18382370 2008
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.700 CausalMutation CLINVAR Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas. 17652212 2007
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.700 CausalMutation CLINVAR Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. 14500403 2003