rs138996609, SDHB

N. diseases: 5
Disease: Neoplastic Syndromes, Hereditary ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Missense mutations in the human SDHB gene increase protein degradation without altering intrinsic enzymatic function. 22835832 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
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
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Chromosomal changes in sporadic and familial head and neck paragangliomas. 19393419 2009
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
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
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. 19454582 2009
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas. 17652212 2007
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. 16317055 2006
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas. 16103922 2005
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. 14500403 2003