rs138996609, SDHB

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.800 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
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.800 GeneticVariation UNIPROT Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. 24893135 2014
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.800 GeneticVariation UNIPROT American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 24493721 2014
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.800 CausalMutation CLINVAR Role of rapid sequence whole-body MRI screening in SDH-associated hereditary paraganglioma families. 23934599 2014
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.800 GeneticVariation UNIPROT Canadian guideline on genetic screening for hereditary renal cell cancers. 24319509 2013
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.800 CausalMutation CLINVAR Missense mutations in the human SDHB gene increase protein degradation without altering intrinsic enzymatic function. 22835832 2012
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.800 CausalMutation CLINVAR Screening of mutations in genes that predispose to hereditary paragangliomas and pheochromocytomas. 22517554 2012
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.800 CausalMutation CLINVAR Relevance of germline mutation screening in both familial and sporadic head and neck paraganglioma for early diagnosis and clinical management. 20208144 2010
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.800 CausalMutation CLINVAR The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. 19454582 2009
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.800 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
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.800 CausalMutation CLINVAR Germline SDHB mutations are common in patients with apparently sporadic sympathetic paragangliomas. 18382370 2008
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.800 CausalMutation CLINVAR Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas. 17652212 2007
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.800 GeneticVariation UNIPROT Somatic SDHB mutation in an extraadrenal pheochromocytoma. 17634472 2007
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.800 GeneticVariation UNIPROT Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. 15328326 2004
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.800 GeneticVariation UNIPROT Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas. 12618761 2003
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.800 CausalMutation CLINVAR Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. 14500403 2003
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.800 GeneticVariation UNIPROT Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. 14500403 2003
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.800 GeneticVariation UNIPROT Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility. 14974914 2003
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.800 GeneticVariation UNIPROT Germ-line mutations in nonsyndromic pheochromocytoma. 12000816 2002
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.800 GeneticVariation UNIPROT Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. 11404820 2001
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
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
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
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
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