Disease: Paraganglioma of head and neck ×
Source: ALL
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 		0.120 GeneticVariation disease BEFREE Phenotypic characterization of this family confirms the currently exclusive association of SDHAF2 mutations with HNPGL. 21224366 2011
CUI: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck 		0.120 GeneticVariation disease BEFREE We conclude that SDHAF2 mutation analysis is justified in very young patients with isolated head and neck paraganglioma without mutations in SDHD, SDHC, or SDHB, and in individuals with familial antecedents who are negative for mutations in all other risk genes. 20071235 2010
CUI: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck 		0.120 Biomarker disease HPO