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 Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD. 29386252 2018
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Rapid-sequence MRI for long-term surveillance for paraganglioma and phaeochromocytoma in patients with succinate dehydrogenase mutations. 27634942 2016
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
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Lack of utility of SDHB mutation testing in adrenergic metastatic phaeochromocytoma. 25371406 2015
Hereditary Paraganglioma-Pheochromocytoma Syndrome
0.700 GeneticVariation CLINVAR Screening of mutations in genes that predispose to hereditary paragangliomas and pheochromocytomas. 22517554 2012
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
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 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 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
Hereditary Paraganglioma-Pheochromocytoma Syndrome
0.700 GeneticVariation CLINVAR Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background. 22429592 2012
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.700 CausalMutation CLINVAR Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations. 21173220 2011
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations. 21173220 2011
PARAGANGLIOMAS 4
CUI: C1861848
Disease: PARAGANGLIOMAS 4
0.700 CausalMutation CLINVAR Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations. 21173220 2011
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.700 CausalMutation CLINVAR Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations. 21173220 2011
Hereditary Paraganglioma-Pheochromocytoma Syndrome
0.700 GeneticVariation CLINVAR Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas. 22041710 2011
PARAGANGLIOMAS 4
CUI: C1861848
Disease: PARAGANGLIOMAS 4
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 Succinate dehydrogenase gene mutations are strongly associated with paraganglioma of the organ of Zuckerkandl. 20418362 2010
Hereditary Paraganglioma-Pheochromocytoma Syndrome
0.700 GeneticVariation CLINVAR Mutation analysis of the SDHB and SDHD genes in pheochromocytomas and paragangliomas: identification of a novel nonsense mutation (Q168X) in the SDHB gene. 20505258 2010
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
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
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
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
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
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
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR SDHB-associated renal oncocytoma suggests a broadening of the renal phenotype in hereditary paragangliomatosis. 19184535 2009