Gene: EGLN1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 54583
Gene Symbol: EGLN1
EGLN1 		0.360 GeneticVariation disease BEFREE Here, we present a bioinformatics investigation of the pathological effect of twelve PHD2 mutations related to polycythemia insurgence. 26754054 2016
Entrez Id: 54583
Gene Symbol: EGLN1
EGLN1 		0.360 Biomarker disease BEFREE Our results suggest that PHD2 is a direct target of miR-17/20a and that miR-17~92 contributes to PASMC proliferation and polycythemia by suppression of PHD2 and induction of HIF1α. 27919930 2016
Entrez Id: 54583
Gene Symbol: EGLN1
EGLN1 		0.360 GeneticVariation disease BEFREE Germ-line PHD1 and PHD2 mutations detected in patients with pheochromocytoma/paraganglioma-polycythemia. 25263965 2015
Entrez Id: 54583
Gene Symbol: EGLN1
EGLN1 		0.360 GeneticVariation disease BEFREE No germline mutations were initially detected in the SDHB, SDHC, SDHD, VHL, and PHD2 genes, known to be associated with polycythemia. 23539726 2013
Entrez Id: 54583
Gene Symbol: EGLN1
EGLN1 		0.360 GeneticVariation disease BEFREE These PHD2 variants were functionally analyzed and compared with the PHD2 mutant previously identified in a patient with polycythemia and paraganglioma. 21933857 2012
Entrez Id: 54583
Gene Symbol: EGLN1
EGLN1 		0.360 GeneticVariation disease LHGDN Biochemical characterization of human prolyl hydroxylase domain protein 2 variants associated with erythrocytosis. 18834144 2008
Entrez Id: 54583
Gene Symbol: EGLN1
EGLN1 		0.360 Biomarker disease GENOMICS_ENGLAND A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove. 17579185 2007