Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Malignant neoplasm of aortic body and other paraganglia
0.300 Biomarker disease CLINGEN Analysis of protein-coding genetic variation in 60,706 humans. 27535533 2016
Malignant neoplasm of aortic body and other paraganglia
0.300 Biomarker disease CLINGEN A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma. 23090011 2013
Malignant neoplasm of aortic body and other paraganglia
0.300 Biomarker disease CLINGEN In vivo and in vitro oncogenic effects of HIF2A mutations in pheochromocytomas and paragangliomas. 23533246 2013