Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
Benign neoplasm of aortic body and other paraganglia
0.300 Biomarker CLINGEN Analysis of protein-coding genetic variation in 60,706 humans. 27535533

2016

Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
Benign neoplasm of aortic body and other paraganglia
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
Benign neoplasm of aortic body and other paraganglia
0.300 Biomarker CLINGEN In vivo and in vitro oncogenic effects of HIF2A mutations in pheochromocytomas and paragangliomas. 23533246

2013