Disease: Polycythemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0032461
Disease: Polycythemia
Polycythemia 		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
CUI: C0032461
Disease: Polycythemia
Polycythemia 		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
CUI: C0032461
Disease: Polycythemia
Polycythemia 		0.360 GeneticVariation disease BEFREE Germ-line PHD1 and PHD2 mutations detected in patients with pheochromocytoma/paraganglioma-polycythemia. 25263965 2015
CUI: C0032461
Disease: Polycythemia
Polycythemia 		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
CUI: C0032461
Disease: Polycythemia
Polycythemia 		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
CUI: C0032461
Disease: Polycythemia
Polycythemia 		0.360 GeneticVariation disease LHGDN Biochemical characterization of human prolyl hydroxylase domain protein 2 variants associated with erythrocytosis. 18834144 2008
CUI: C0032461
Disease: Polycythemia
Polycythemia 		0.360 Biomarker disease GENOMICS_ENGLAND A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove. 17579185 2007