Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck
0.200 GeneticVariation disease BEFREE The spectrum of SDHD mutations in Russian patients with head and neck paraganglioma. 30375904 2018
CUI: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck
0.200 GeneticVariation disease BEFREE Germline mutations of the gene encoding succinate dehydrogenase subunit B (SDHB) predispose to head-and-neck-paraganglioma (HNPGL), sympathetic PGL, pheochromocytoma and renal cell carcinoma for which regular surveillance is required. 27573198 2017
CUI: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck
0.200 GeneticVariation disease BEFREE Mutations in SDHD were the leading cause of HNPGL in this study. 26096992 2015
CUI: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck
0.200 GeneticVariation disease BEFREE One patient with multifocal head and neck paraganglioma (PGL) and pheochromocytoma (PHEO) carried a SDHD mutation. 24134185 2014
CUI: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck
0.200 GeneticVariation disease BEFREE Clinical surveillance revealed a head and neck paraganglioma in 28 of the 47 (59.6%) asymptomatic SDHD mutation carriers. 22948026 2013
CUI: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck
0.200 GeneticVariation disease BEFREE We evaluated VHL, SDHB and SDHD mutation testing in cohorts of patients with non-syndromic PPGL and head and neck paraganglioma (HNPGL). 23072324 2013
CUI: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck
0.200 GeneticVariation disease BEFREE Mutations in SDHD are the major determinants of the clinical characteristics of Dutch head and neck paraganglioma patients. 21561462 2011
CUI: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck
0.200 GeneticVariation disease BEFREE Is the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene due to a founder effect in Chinese head and neck paraganglioma patients? 21792967 2011
CUI: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck
0.200 GeneticVariation disease BEFREE Hereditary head and neck paraganglioma (HNPGL) syndromes are associated with mutations in the SDHD(PGL1), SDHC(PGL3), and SDHB(PGL4) genes encoding succinate dehydrogenase subunits. 21224366 2011
CUI: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck
0.200 GeneticVariation disease BEFREE Novel germline SDHD deletion associated with an unusual sympathetic head and neck paraganglioma. 20310044 2011
CUI: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck
0.200 GeneticVariation disease BEFREE A head and neck paraganglioma was present in 97.7% of the SDHD and 87.5% of the SDHC mutation carriers, but in only 42.7% of the SDHB carriers. 19454582 2009
CUI: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck
0.200 Biomarker disease BEFREE SDHB, SDHC, and SDHD molecular screening is important in all HNPs, with or without primary indicators of paraganglioma syndrome, to orient mutation-driven clinical screening for additional HNPs and pheochromocytoma. 17102086 2006
CUI: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck
0.200 GeneticVariation disease BEFREE To further investigate the role of SDHD and SDHB in the development of these tumours we determined the occurrence of germline SDHD and SDHB mutations in four patients with a family history of phaeochromocytoma with associated head and neck paraganglioma, one patient with a family history of phaeochromocytoma only and two patients with apparently sporadic extra-adrenal phaeochromocytoma, one of whom had early onset disease. 12618761 2003
CUI: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck
0.200 Biomarker disease BEFREE Combining our results with those from two other large studies in which both SDHB and SDHD have been analysed, SDHB mutations were most commonly associated with phaeochromocytoma susceptibility and SDHD with the development of HNPGL (P = 0.025). 14974914 2003
CUI: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck
0.200 GeneticVariation disease BEFREE Germline SDHD mutation analysis should be done in individuals with familial, multiple, or early-onset phaeochromocytomas even if a personal or family history of head and neck paraganglioma is absent. 11323050 2001
CUI: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck
0.200 GeneticVariation disease BEFREE Hereditary paraganglioma of the head and neck is associated with germline mutations in the SDHD gene, which encodes a mitochondrial respiratory chain protein. 11526495 2001
CUI: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck
0.200 Biomarker disease BEFREE Founder effect at PGL1 in hereditary head and neck paraganglioma families from the Netherlands. 9683583 1998
CUI: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck
0.200 Biomarker disease HPO