| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Pheochromocytoma
|
0.800 | GeneticVariation | UNIPROT | Somatic SDHB mutation in an extraadrenal pheochromocytoma. | 17634472 | 2007 | |||||
Pheochromocytoma
|
0.800 | GeneticVariation | UNIPROT | Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. | 15328326 | 2004 | |||||
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
|
0.800 | GeneticVariation | UNIPROT | Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility. | 14974914 | 2003 | |||||
Pheochromocytoma
|
0.800 | GeneticVariation | UNIPROT | Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. | 14500403 | 2003 | |||||
Pheochromocytoma
|
0.800 | GeneticVariation | UNIPROT | Germ-line mutations in nonsyndromic pheochromocytoma. | 12000816 | 2002 | |||||
Pheochromocytoma
|
0.800 | GeneticVariation | UNIPROT | Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. | 11404820 | 2001 | |||||
Pheochromocytoma
|
0.800 | CausalMutation | CLINVAR | ||||||||
Neoplastic Syndromes, Hereditary
|
0.700 | CausalMutation | CLINVAR | The penetrance of paraganglioma and pheochromocytoma in SDHB germline mutation carriers. | 28503760 | 2018 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | CausalMutation | CLINVAR | Mediastinal paragangliomas related to SDHx gene mutations. | 27785149 | 2016 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | CausalMutation | CLINVAR | Lack of utility of SDHB mutation testing in adrenergic metastatic phaeochromocytoma. | 25371406 | 2015 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | CausalMutation | CLINVAR | Phenotype of SDHB mutation carriers in the Netherlands. | 25047027 | 2014 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | CausalMutation | CLINVAR | Structural basis for malfunction in complex II. | 22904323 | 2012 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | CausalMutation | CLINVAR | Screening of mutations in genes that predispose to hereditary paragangliomas and pheochromocytomas. | 22517554 | 2012 | |||||
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
|
0.700 | CausalMutation | CLINVAR | The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. | 19454582 | 2009 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | CausalMutation | CLINVAR | Germline SDHB mutations are common in patients with apparently sporadic sympathetic paragangliomas. | 18382370 | 2008 | |||||
Neoplastic Syndromes, Hereditary
|
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
|
0.700 | CausalMutation | CLINVAR | Germ-line mutations in nonsyndromic pheochromocytoma. | 12000816 | 2002 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | CausalMutation | CLINVAR | Effect of cysteine to serine mutations on the properties of the [4Fe-4S] center in Escherichia coli fumarate reductase. | 7547971 | 1995 | |||||
PARAGANGLIOMAS 4
|
0.700 | CausalMutation | CLINVAR | ||||||||
Gastrointestinal Stromal Tumors
|
0.700 | CausalMutation | CLINVAR | ||||||||
Hereditary Paraganglioma-Pheochromocytoma Syndrome
|
0.700 | GeneticVariation | CLINVAR |