Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853286
Disease: Erythrocytosis, Familial, 3
Erythrocytosis, Familial, 3 		0.700 Biomarker disease GENOMICS_ENGLAND A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove. 17579185 2007
CUI: C1853286
Disease: Erythrocytosis, Familial, 3
Erythrocytosis, Familial, 3 		0.700 GeneticVariation disease UNIPROT A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove. 17579185 2007
CUI: C1853286
Disease: Erythrocytosis, Familial, 3
Erythrocytosis, Familial, 3 		0.700 GeneticVariation disease UNIPROT A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis. 16407130 2006
CUI: C1853286
Disease: Erythrocytosis, Familial, 3
Erythrocytosis, Familial, 3 		0.700 CausalMutation disease CLINVAR
CUI: C1853286
Disease: Erythrocytosis, Familial, 3
Erythrocytosis, Familial, 3 		0.700 Biomarker disease CTD_human
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.380 GeneticVariation disease BEFREE The functions of MYC-associated factor X (MAX) and prolyl hydroxylase 2 (PHD2) mutations in the contribution to the pathogenesis of paragangliomas still remain unclear. 31307198 2019
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.380 Biomarker disease BEFREE We also show that inactivation of the principal HIF prolyl hydroxylase PHD2 within the Type I cell lineage is sufficient to cause multilineage expansion of the carotid body, with characteristics resembling paragangliomas. 29917232 2018
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.380 Biomarker disease BEFREE Previously, mutations in the SDHA/B/C/D, SDHAF2, VHL, FH, PHD1, and PHD2 genes have been associated with HIF activation and the development of pseudohypoxic (cluster-1) PGLs. 27659016 2016
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.380 GeneticVariation disease BEFREE Germ-line PHD1 and PHD2 mutations detected in patients with pheochromocytoma/paraganglioma-polycythemia. 25263965 2015
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.380 Biomarker disease BEFREE The dysfunction of genes involved in the cellular response to hypoxia, such as VHL, EGL nine homolog 1, and the succinate dehydrogenase (SDH) genes, leads to a direct abrogation of hypoxia inducible factor (HIF) degradation, resulting in a pseudo-hypoxic state implicated in PCC/PGL development. 23418310 2013
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.380 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: C0030421
Disease: Paraganglioma
Paraganglioma 		0.380 Biomarker disease BEFREE More rarely, two other genes may predispose to pheochromocytoma/paraganglioma development: KIF1Bbeta and PHD2. 21115163 2010
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.380 GeneticVariation disease BEFREE We describe a patient with erythrocytosis and recurrent paraganglioma who carries a newly discovered PHD2 mutation. 19092153 2008
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.380 Biomarker disease GENOMICS_ENGLAND A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove. 17579185 2007
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
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma 		0.350 GeneticVariation disease BEFREE Germ-line PHD1 and PHD2 mutations detected in patients with pheochromocytoma/paraganglioma-polycythemia. 25263965 2015
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma 		0.350 Biomarker disease BEFREE The dysfunction of genes involved in the cellular response to hypoxia, such as VHL, EGL nine homolog 1, and the succinate dehydrogenase (SDH) genes, leads to a direct abrogation of hypoxia inducible factor (HIF) degradation, resulting in a pseudo-hypoxic state implicated in PCC/PGL development. 23418310 2013
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma 		0.350 Biomarker disease BEFREE In addition to these ten PCC susceptibility genes, two other genes, KIF1B and PHD2, have also been associated with PCC. 23061808 2013
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma 		0.350 GeneticVariation disease BEFREE We undertook mutation analysis of PHD1, PHD2 and PHD3 in two cohorts of patients with features of inherited phaeochromocytoma (n=82) and inherited RCC (n=64) and no evidence of germline mutations in known susceptibility genes. 20959442 2011