Disease: Pheochromocytoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.330 GeneticVariation disease BEFREE Germ-line PHD1 and PHD2 mutations detected in patients with pheochromocytoma/paraganglioma-polycythemia. 25263965 2015
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.330 GeneticVariation disease BEFREE We undertook mutation analysis of PHD1, PHD2 and PHD3 in two cohorts of patients with features of inherited phaeochromocytoma (n=82) and inherited RCC (n=64) and no evidence of germline mutations in known susceptibility genes. 20959442 2011
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.330 Biomarker disease BEFREE More rarely, two other genes may predispose to pheochromocytoma/paraganglioma development: KIF1Bbeta and PHD2. 21115163 2010
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.330 Biomarker disease GENOMICS_ENGLAND A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove. 17579185 2007