Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma 		0.350 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 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: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.330 Biomarker disease BEFREE More rarely, two other genes may predispose to pheochromocytoma/paraganglioma development: KIF1Bbeta and PHD2. 21115163 2010
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.330 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
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.330 GeneticVariation disease BEFREE Germ-line PHD1 and PHD2 mutations detected in patients with pheochromocytoma/paraganglioma-polycythemia. 25263965 2015
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.330 Biomarker disease GENOMICS_ENGLAND A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove. 17579185 2007
CUI: C0149504
Disease: Encephalopathy, Toxic
Encephalopathy, Toxic 		0.300 Biomarker disease CTD_human Hsp90 Co-chaperone p23 contributes to dopaminergic mitochondrial stress via stabilization of PHD2: Implications for Parkinson's disease. 29471019 2018
CUI: C0154659
Disease: Toxic Encephalitis
Toxic Encephalitis 		0.300 Biomarker disease CTD_human Hsp90 Co-chaperone p23 contributes to dopaminergic mitochondrial stress via stabilization of PHD2: Implications for Parkinson's disease. 29471019 2018
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.300 Biomarker disease CLINGEN Germ-line PHD1 and PHD2 mutations detected in patients with pheochromocytoma/paraganglioma-polycythemia. 25263965 2015
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.300 Biomarker disease CLINGEN Induction of human endometrial cancer cell senescence through modulation of HIF-1alpha activity by EGLN1. 16161047 2006
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.300 Biomarker disease CLINGEN Interventions for marital discord in military couples: strengthening the home front. 19092513 2009
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.300 Biomarker disease CLINGEN Distinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemia. 21933857 2012
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.300 Biomarker disease CLINGEN The biphasic role of the hypoxia-inducible factor prolyl-4-hydroxylase, PHD2, in modulating tumor-forming potential. 18505927 2008
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.300 Biomarker disease CLINGEN PHD2 mutation and congenital erythrocytosis with paraganglioma. 19092153 2008
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.210 Biomarker disease BEFREE PHD2 silencing in stem cells may be a novel strategy for enhancing the effectiveness of stem cell therapy after myocardial infarction. 23694817 2013
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.210 Biomarker disease RGD In a model of myocardial infarction, in situ hybridization showed periischemic enhancement for PHD2 mRNA and PHD3 mRNA, but not PHD1 mRNA. 16765982 2006
CUI: C2609414
Disease: Acute kidney injury
Acute kidney injury 		0.200 Biomarker disease RGD In rat models of acute renal injury, changes in PHD expression levels were variable; while cisplatin and ischemia/reperfusion led to significant decreases in PHD2 and 3 expression levels, no changes were seen in a model of contrast media-induced nephropathy. 19349364 2009
CUI: C0152264
Disease: Familial erythrocytosis
Familial erythrocytosis 		0.080 GeneticVariation disease BEFREE Recently, a missense mutation [c.950C>G (p.Pro317Arg)] in the prolyl hydroxylase domain protein 2 (PHD2) gene, whose encoded protein has HIF-1alpha as a substrate, provided evidence of the PHD2 role in a case of familial erythrocytosis. 17933562 2008
CUI: C0152264
Disease: Familial erythrocytosis
Familial erythrocytosis 		0.080 GeneticVariation disease BEFREE A germline PHD2 mutation has been reported in association with congenital erythrocytosis and recurrent extra-adrenal phaeochromocytoma. 20959442 2011
CUI: C0152264
Disease: Familial erythrocytosis
Familial erythrocytosis 		0.080 GeneticVariation disease BEFREE PHD2 mutation and congenital erythrocytosis with paraganglioma. 19092153 2008
CUI: C0152264
Disease: Familial erythrocytosis
Familial erythrocytosis 		0.080 Biomarker disease BEFREE A recent report of familial erythrocytosis now implicates a different protein, Prolyl Hydroxylase Domain protein 2 (PHD2), which is an enzyme that hydroxylates HIF. 16687917 2006
CUI: C0152264
Disease: Familial erythrocytosis
Familial erythrocytosis 		0.080 GeneticVariation disease BEFREE We show that this mutation in PHD2 results in a marked decrease in enzyme activity and is associated with familial erythrocytosis, identifying a previously unrecognized cause of this condition. 16407130 2006
CUI: C0152264
Disease: Familial erythrocytosis
Familial erythrocytosis 		0.080 Biomarker disease BEFREE Recently, a few mutations in gene for the prolyl hydroxylase domain 2 protein (PHD2) have been reported in cases of congenital erythrocytosis not associated with tumor formation with the exception of one patient with a recurrent extra-adrenal paraganglioma. 21933857 2012
CUI: C0152264
Disease: Familial erythrocytosis
Familial erythrocytosis 		0.080 Biomarker disease BEFREE The variants display differential effects on catalytic rate and substrate binding, implying that partial inhibition or selective inhibition with regard to HIFalpha isoforms of PHD2 could result in the phenotype displayed by patients with familial erythrocytosis. 18834144 2008
CUI: C0152264
Disease: Familial erythrocytosis
Familial erythrocytosis 		0.080 Biomarker disease BEFREE Mutations in the genes encoding VHL, PHD2, and HIF-2alpha have been identified in patients with familial erythrocytosis. 19494350 2009