Disease: hereditary paraganglioma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1333993
Disease: hereditary paraganglioma
hereditary paraganglioma 		0.400 GeneticVariation disease BEFREE Role of rapid sequence whole-body MRI screening in SDH-associated hereditary paraganglioma families. 23934599 2014
CUI: C1333993
Disease: hereditary paraganglioma
hereditary paraganglioma 		0.400 GeneticVariation disease BEFREE Germline loss-of-function mutations in any of the SDH genes or assembly factor (SDHAF2) cause hereditary paraganglioma/phaeochromocytoma syndrome (HPGL/PCC) through a mechanism which is largely unknown. 21771581 2011
CUI: C1333993
Disease: hereditary paraganglioma
hereditary paraganglioma 		0.400 GeneticVariation disease BEFREE Early presentation of familial paraganglioma with SDHB mutation in a 13 year old child and its mother. 20583550 2010
CUI: C1333993
Disease: hereditary paraganglioma
hereditary paraganglioma 		0.400 GeneticVariation disease BEFREE Germline mutations of the tumor suppressor genes SDHB, SDHC and SDHD play a major role in hereditary paraganglioma and pheochromocytoma. 19368708 2009
CUI: C1333993
Disease: hereditary paraganglioma
hereditary paraganglioma 		0.400 GeneticVariation disease BEFREE Mutations in SDHB are one of the causes of hereditary paraganglioma syndrome. 19184535 2009
CUI: C1333993
Disease: hereditary paraganglioma
hereditary paraganglioma 		0.400 GeneticVariation disease BEFREE Hereditary paraganglioma (PGL) syndromes result from germline mutations in genes encoding subunits B, C and D of the mitochondrial enzyme succinate dehydrogenase (SDHB, SDHC and SDHD). 17973943 2008
CUI: C1333993
Disease: hereditary paraganglioma
hereditary paraganglioma 		0.400 GeneticVariation disease BEFREE A question confronting clinicians is whether they should screen patients with apparently sporadic pheochromocytomas for unsuspected germline mutations of some or all of the seven genes known to cause hereditary paraganglioma or pheochromocytoma (NF1, VHL, RET, MEN1, SDHD, SDHC, and SDHB). 16735498 2006
CUI: C1333993
Disease: hereditary paraganglioma
hereditary paraganglioma 		0.400 GeneticVariation disease BEFREE Germline mutations of the SDHD, SDHB and SDHC genes, encoding three of the four subunits of succinate dehydrogenase, are a major cause of hereditary paraganglioma and pheochromocytoma, and demonstrate that these genes are classic tumor suppressors. 16405730 2006
CUI: C1333993
Disease: hereditary paraganglioma
hereditary paraganglioma 		0.400 Biomarker disease BEFREE Germline mutations of the genes for succinate dehydrogenase subunits D, B, or C (SDHD, SDHB, SDHC) have been identified in some kindreds with familial paraganglioma. 15905695 2005
CUI: C1333993
Disease: hereditary paraganglioma
hereditary paraganglioma 		0.400 Biomarker disease BEFREE Large germline deletions of mitochondrial complex II subunits SDHB and SDHD in hereditary paraganglioma. 15531530 2004
CUI: C1333993
Disease: hereditary paraganglioma
hereditary paraganglioma 		0.400 GeneticVariation disease BEFREE Although mutations in SDHC and in SDHD may cause hereditary paraganglioma, germline SDHA mutations are associated with juvenile encephalopathy, and the phenotypic consequences of SDHB mutations have not been defined. 11404820 2001
CUI: C1333993
Disease: hereditary paraganglioma
hereditary paraganglioma 		0.400 Biomarker disease GENOMICS_ENGLAND