EPAS1, endothelial PAS domain protein 1, 2034

N. diseases: 293; N. variants: 35
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.300 Biomarker disease CLINGEN Analysis of protein-coding genetic variation in 60,706 humans. 27535533 2016
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.300 Biomarker disease CLINGEN A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma. 23090011 2013
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.300 Biomarker disease CLINGEN In vivo and in vitro oncogenic effects of HIF2A mutations in pheochromocytomas and paragangliomas. 23533246 2013