Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 54583
Gene Symbol: EGLN1
EGLN1
Benign neoplasm of aortic body and other paraganglia
0.300 Biomarker CLINGEN Germ-line PHD1 and PHD2 mutations detected in patients with pheochromocytoma/paraganglioma-polycythemia. 25263965

2015

Entrez Id: 54583
Gene Symbol: EGLN1
EGLN1
Benign neoplasm of aortic body and other paraganglia
0.300 Biomarker CLINGEN Distinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemia. 21933857

2012

Entrez Id: 54583
Gene Symbol: EGLN1
EGLN1
Benign neoplasm of aortic body and other paraganglia
0.300 Biomarker CLINGEN PHD2 mutation and congenital erythrocytosis with paraganglioma. 19092153

2009

Entrez Id: 54583
Gene Symbol: EGLN1
EGLN1
Benign neoplasm of aortic body and other paraganglia
0.300 Biomarker CLINGEN The biphasic role of the hypoxia-inducible factor prolyl-4-hydroxylase, PHD2, in modulating tumor-forming potential. 18505927

2008

Entrez Id: 54583
Gene Symbol: EGLN1
EGLN1
Benign neoplasm of aortic body and other paraganglia
0.300 Biomarker CLINGEN Interventions for marital discord in military couples: strengthening the home front. 19092513

2008

Entrez Id: 54583
Gene Symbol: EGLN1
EGLN1
Benign neoplasm of aortic body and other paraganglia
0.300 Biomarker CLINGEN Induction of human endometrial cancer cell senescence through modulation of HIF-1alpha activity by EGLN1. 16161047

2006