rs397516836, SDHB

N. diseases: 5
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
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.700 CausalMutation CLINVAR SDHB-associated renal oncocytoma suggests a broadening of the renal phenotype in hereditary paragangliomatosis. 19184535 2009
Hereditary Paraganglioma-Pheochromocytoma Syndrome
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
0.700 GeneticVariation CLINVAR Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas. 22041710 2011
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.700 CausalMutation CLINVAR Clinical presentations, biochemical phenotypes, and genotype-phenotype correlations in patients with succinate dehydrogenase subunit B-associated pheochromocytomas and paragangliomas. 17200167 2007
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
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
PARAGANGLIOMAS 4
CUI: C1861848
Disease: PARAGANGLIOMAS 4
0.700 CausalMutation CLINVAR SDHB-associated renal oncocytoma suggests a broadening of the renal phenotype in hereditary paragangliomatosis. 19184535 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
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Carney triad can be (rarely) associated with germline succinate dehydrogenase defects. 26173966 2016
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.700 CausalMutation CLINVAR Carney triad versus Carney Stratakis syndrome: two cases which illustrate the difficulty in distinguishing between these conditions in individual patients. 20119652 2010
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.700 CausalMutation CLINVAR Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD. 19802898 2010
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.700 CausalMutation CLINVAR Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD. 19802898 2010
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.700 CausalMutation CLINVAR Clinical presentations, biochemical phenotypes, and genotype-phenotype correlations in patients with succinate dehydrogenase subunit B-associated pheochromocytomas and paragangliomas. 17200167 2007
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.700 CausalMutation CLINVAR SDHB-associated renal oncocytoma suggests a broadening of the renal phenotype in hereditary paragangliomatosis. 19184535 2009
PARAGANGLIOMAS 4
CUI: C1861848
Disease: PARAGANGLIOMAS 4
0.700 GeneticVariation CLINVAR
Hereditary Paraganglioma-Pheochromocytoma Syndrome
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
0.700 GeneticVariation CLINVAR Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background. 22429592 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
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 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 Carney triad versus Carney Stratakis syndrome: two cases which illustrate the difficulty in distinguishing between these conditions in individual patients. 20119652 2010
PARAGANGLIOMAS 4
CUI: C1861848
Disease: PARAGANGLIOMAS 4
0.700 CausalMutation CLINVAR Clinical presentations, biochemical phenotypes, and genotype-phenotype correlations in patients with succinate dehydrogenase subunit B-associated pheochromocytomas and paragangliomas. 17200167 2007
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Biochemically silent abdominal paragangliomas in patients with mutations in the succinate dehydrogenase subunit B gene. 18840642 2008