rs138996609, SDHB

N. diseases: 5
Disease: PARAGANGLIOMAS 4 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
PARAGANGLIOMAS 4
CUI: C1861848
Disease: PARAGANGLIOMAS 4
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
PARAGANGLIOMAS 4
CUI: C1861848
Disease: PARAGANGLIOMAS 4
0.700 CausalMutation CLINVAR Role of rapid sequence whole-body MRI screening in SDH-associated hereditary paraganglioma families. 23934599 2014
PARAGANGLIOMAS 4
CUI: C1861848
Disease: PARAGANGLIOMAS 4
0.700 CausalMutation CLINVAR Missense mutations in the human SDHB gene increase protein degradation without altering intrinsic enzymatic function. 22835832 2012
PARAGANGLIOMAS 4
CUI: C1861848
Disease: PARAGANGLIOMAS 4
0.700 CausalMutation CLINVAR Screening of mutations in genes that predispose to hereditary paragangliomas and pheochromocytomas. 22517554 2012
PARAGANGLIOMAS 4
CUI: C1861848
Disease: PARAGANGLIOMAS 4
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
PARAGANGLIOMAS 4
CUI: C1861848
Disease: PARAGANGLIOMAS 4
0.700 CausalMutation CLINVAR The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. 19454582 2009
PARAGANGLIOMAS 4
CUI: C1861848
Disease: PARAGANGLIOMAS 4
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
PARAGANGLIOMAS 4
CUI: C1861848
Disease: PARAGANGLIOMAS 4
0.700 CausalMutation CLINVAR Germline SDHB mutations are common in patients with apparently sporadic sympathetic paragangliomas. 18382370 2008
PARAGANGLIOMAS 4
CUI: C1861848
Disease: PARAGANGLIOMAS 4
0.700 CausalMutation CLINVAR Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas. 17652212 2007
PARAGANGLIOMAS 4
CUI: C1861848
Disease: PARAGANGLIOMAS 4
0.700 CausalMutation CLINVAR Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. 14500403 2003