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 CausalMutation disease CLINVAR
CUI: C1853286
Disease: Erythrocytosis, Familial, 3
Erythrocytosis, Familial, 3 		0.700 Biomarker disease CTD_human
CUI: C0239935
Disease: Hematocrit increased
Hematocrit increased 		0.100 Biomarker phenotype HPO
CUI: C0549448
Disease: Hemoglobin increased
Hemoglobin increased 		0.100 Biomarker phenotype HPO
CUI: C1853288
Disease: Increased red blood cell mass
Increased red blood cell mass 		0.100 Biomarker phenotype HPO
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.030 AlteredExpression disease BEFREE RCC tumors with WT VHL had higher levels of Rpb1(OH) and PHD1 and lower levels of PHD2 than tumors with VHL gene alterations. 20978146 2010
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.020 AlteredExpression disease BEFREE RCC tumors with WT VHL had higher levels of Rpb1(OH) and PHD1 and lower levels of PHD2 than tumors with VHL gene alterations. 20978146 2010
CUI: C2826323
Disease: Refractory Cytopenia of Childhood
Refractory Cytopenia of Childhood 		0.010 AlteredExpression disease BEFREE RCC tumors with WT VHL had higher levels of Rpb1(OH) and PHD1 and lower levels of PHD2 than tumors with VHL gene alterations. 20978146 2010
CUI: C0025202
Disease: melanoma
melanoma 		0.030 AlteredExpression disease BEFREE Melanoma cells were treated with ascorbic acid (AA) and ascorbate 2-phosphate (A2P) to assess their ability to reduce HIF-1α accumulation and activity. siRNA was used to deplete cellular PHD2 in order to evaluate this effect on AA's ability to lower HIF-1α levels. 26547841 2015
CUI: C0152264
Disease: Familial erythrocytosis
Familial erythrocytosis 		0.080 GeneticVariation disease BEFREE PHD2 mutation and congenital erythrocytosis with paraganglioma. 19092153 2008
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		0.080 GeneticVariation disease BEFREE PHD2 mutation and congenital erythrocytosis with paraganglioma. 19092153 2008
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.010 AlteredExpression disease BEFREE EGLN1 and EGLN3 are members of the egg-laying-defective 9 (EglN) prolyl-hydroxylases which during normoxia catalyse hydroxylation of the hypoxia-inducible factor (HIF)-1alpha, thereby promoting its ubiquitination by a complex containing the von Hippel-Lindau (VHL) tumour suppressor. 19737309 2010
CUI: C1261473
Disease: Sarcoma
Sarcoma 		0.020 AlteredExpression group BEFREE PHD2 expression was detected in the majority of sarcoma cases, with increased expression correlating with high tumor grade but not with survival. 20026900 2010
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
Malignant neoplasm of soft tissue 		0.020 AlteredExpression group BEFREE PHD2 expression was detected in the majority of sarcoma cases, with increased expression correlating with high tumor grade but not with survival. 20026900 2010
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 AlteredExpression group BEFREE PHD2 expression was detected in the majority of sarcoma cases, with increased expression correlating with high tumor grade but not with survival. 20026900 2010
CUI: C0002871
Disease: Anemia
Anemia 		0.030 Biomarker disease BEFREE EglN1 is a 2-oxoglutarate-dependent dioxygenase; such enzymes can be inhibited with drug-like small molecules and EglN1 inhibitors are currently being tested for the treatment of anemia. 20973793 2010
CUI: C0003864
Disease: Arthritis
Arthritis 		0.010 Biomarker disease BEFREE PHD-2 appears to regulate responses relevant to arthritis via HIF-α, highlighting the major importance of this enzyme in hypoxia- and angiogenesis-dependent inflammatory diseases such as RA. 22488178 2012
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 Biomarker disease BEFREE PHD-2 appears to regulate responses relevant to arthritis via HIF-α, highlighting the major importance of this enzyme in hypoxia- and angiogenesis-dependent inflammatory diseases such as RA. 22488178 2012
CUI: C0340100
Disease: High altitude pulmonary edema
High altitude pulmonary edema 		0.040 AlteredExpression disease BEFREE EGLN1 variants influence expression and SaO2 levels to associate with high-altitude pulmonary oedema and adaptation. 23130672 2013
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: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.020 AlteredExpression disease BEFREE PHD2 expression in the tumors is associated with the clinical features and prognosis of patients with HCC; it may be used as a histological marker for HCC. 25546659 2014
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.020 Biomarker phenotype BEFREE PHD2 depletion in CAFs co-injected with tumour cells similarly prevents CAF-induced metastasis to lungs and liver. 26323721 2015
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.020 GeneticVariation disease BEFREE PHD2 inhibition was found to result in increased expression of ATP13A2, mutation of which is responsible for a rare juvenile form of PD known as Kufor-Rakeb syndrome. 26818499 2016
CUI: C1847640
Disease: KUFOR-RAKEB SYNDROME
KUFOR-RAKEB SYNDROME 		0.010 AlteredExpression disease BEFREE PHD2 inhibition was found to result in increased expression of ATP13A2, mutation of which is responsible for a rare juvenile form of PD known as Kufor-Rakeb syndrome. 26818499 2016
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		0.020 Biomarker disease BEFREE PHD2 might be a novel biomarker and a potential target for endometrial cancer management. 31819628 2019