EPAS1, endothelial PAS domain protein 1, 2034

N. diseases: 293; N. variants: 35
Disease: recurrent pheochromocytoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0279822
Disease: recurrent pheochromocytoma
recurrent pheochromocytoma 		0.010 GeneticVariation disease BEFREE A Somatic HIF2α Mutation-Induced Multiple and Recurrent Pheochromocytoma/Paraganglioma with Polycythemia: Clinical Study with Literature Review. 28116635 2017