Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.300 Biomarker CLINGEN Analysis of protein-coding genetic variation in 60,706 humans. 27535533

2016
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.300 Biomarker CLINGEN A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma. 23090011

2013
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.300 Biomarker CLINGEN In vivo and in vitro oncogenic effects of HIF2A mutations in pheochromocytomas and paragangliomas. 23533246

2013