rs74315370, 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 Analysis of SDHAF3 in familial and sporadic pheochromocytoma and paraganglioma. 28738844 2017
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.800 CausalMutation CLINVAR Structural and functional consequences of succinate dehydrogenase subunit B mutations. 25972245 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 Identification of succinate dehydrogenase-deficient bladder paragangliomas. 23797725 2013
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 High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands. 21348866 2012
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 Germline SDHB mutations and familial renal cell carcinoma. 18728283 2008
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 CausalMutation CLINVAR In addition all index patients of five families showing hereditary pheochromocytoma-paraganglioma were found to carry germline mutations of SDHB: four of which were novel, c.343C>T (p.Arg115X), c.141G>A (p.Trp47X), c.281G>A (p.Arg94Lys), and c.653G>C (p.Trp218Ser), and one reported previously, c.136C>T, p.Arg46X. 16405730 2006
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 CausalMutation CLINVAR Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. 15328326 2004
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 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 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 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 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 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