EPAS1, endothelial PAS domain protein 1, 2034

N. diseases: 293; N. variants: 35
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.010 Biomarker disease BEFREE This study highlights adipocyte HIF-2α as a putative drug target against atherosclerosis. 31668872 2019
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.010 Biomarker disease BEFREE This study highlights adipocyte HIF-2α as a putative drug target against atherosclerosis. 31668872 2019
CUI: C0009319
Disease: Colitis
Colitis
0.010 AlteredExpression disease BEFREE These data confirm our previous finding that epithelial HIF-2α mediates inflammatory response and demonstrates that activation of HIF-2α is sufficient to exacerbate colitis.<b>NEW & NOTEWORTHY</b> Inflammatory bowel disease (IBD) is a chronic relapsing inflammatory disease of the intestinal tract. 31241981 2019
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic
0.010 Biomarker disease BEFREE Therefore, PHD and HIF-2α could be a new strategy for treatment of atopic dermatitis and psoriasis. 31682627 2019
CUI: C0013595
Disease: Eczema
Eczema
0.010 Biomarker disease BEFREE Therefore, PHD and HIF-2α could be a new strategy for treatment of atopic dermatitis and psoriasis. 31682627 2019
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.010 AlteredExpression disease BEFREE Moreover, hippocampal EPO, EPOR, p-EPOR (Tyr485), STAT5, AKT1, and HIF-2α, as well as the number of astrocytes in CA1 zone of hippocampus were also decreased in CRF mice, while YGY extract prominently promoted the expressions of these proteins and increased the number of astrocytes. 31055001 2019
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.010 Biomarker disease BEFREE Our aim was to evaluate the LincR-Gng2-5' and LincR-Epas1-3'AS fold change in blood of MS patients versus healthy controls and correlate it with disease severity, assessed based on Expanded Disability Status Scale (EDSS).<b>Material and Methods:</b> Sixty MS patients 42 relapsing remitting (RR, RRMS), 18 Secondary progressive (SP, SPMS) and sixty controls (age-matched and sex-matched) were studied. 31790618 2019
CUI: C0029453
Disease: Osteopenia
Osteopenia
0.010 Biomarker disease BEFREE HIF-2α deficiency alleviated ovariectomy-induced bone loss in mice, and specific inhibition of HIF-2α with ZINC04179524 significantly blocked RANKL-mediated osteoclastogenesis. 31098335 2019
CUI: C0036220
Disease: Kaposi Sarcoma
Kaposi Sarcoma
0.010 AlteredExpression disease BEFREE The results show that the KSHV ORF34 protein is involved in the KSHV life cycle by regulating the expression of HIF-1α and HIF-2α proteins.<b>IMPORTANCE</b> Hypoxia inducible factor 1α (HIF-1α) and HIF-2α are transcription factors which play important roles in the Kaposi's sarcoma-associated herpesvirus (KSHV) latent and lytic gene replication. 31189709 2019
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung
0.010 Biomarker disease BEFREE Mega-analysis revealed that three LA-associated genes, such as solute carrier family 2 member 1 (SLC2A1), endothelial PAS domain protein 1 (EPAS1) and cyclin-dependent kinase 4 (CDK4), were significantly associated with LSCC (P<1.60×10<sup>-8</sup>), with multiple potential pathways identified by functional pathway analysis, which were further validated by co-expression analysis. 31516564 2019
CUI: C0158266
Disease: Intervertebral Disc Degeneration
Intervertebral Disc Degeneration
0.010 Biomarker disease BEFREE An in vivo rabbit disc degeneration model was established to demonstrate that HIF-2α plays a critical role in disc degeneration. 31251999 2019
CUI: C0162316
Disease: Iron deficiency anemia
Iron deficiency anemia
0.010 Biomarker disease BEFREE Our data demonstrate a hetero-tissue crosstalk mechanism, whereby hepatic hepcidin regulated intestinal HIF-2α in iron deficiency, anemia, and iron overload. 30352047 2019
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
0.010 Biomarker group BEFREE Caffeine and hyperoxia in itself upregulate HIF-2α and vascular endothelial growth factor gene expression. 31362742 2019
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
0.010 Biomarker group BEFREE The xenograft tumor data further confirmed the regulated effect of HIF-1α and HIF-2α on FoxM1, and demonstrated that the simultaneous downregulation of both HIF-1α and HIF-2α inhibited GIST tumor growth. 29948390 2019
Transient erythroblastopenia of childhood
0.010 AlteredExpression disease BEFREE We monitored BNIP3 expression in the testosterone-induced TECs injury model after treatment with hypoxia inducible factor 1α (HIF-1α) and/or hypoxia inducible factor 2α (HIF-2α) inhibitors to determine the upstream protein regulating BNIP3 expression. 30819186 2019
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.010 Biomarker disease BEFREE This study provides the groundwork necessary to establish safety profiles for strategies aiming at antagonizing HIF1A and HIF2A function in cone photoreceptors for the treatment of retinal degenerative diseases that involve a hypoxic component such as AMD. 31695081 2019
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance
0.010 Biomarker phenotype BEFREE HIF2α knockout in POMC neurons led to age-dependent excess weight gain and fat increase, a phenotype that was associated with a mild degree of glucose intolerance and insulin resistance. 30709906 2019
Microcytic hypochromic anemia (disorder)
0.010 GeneticVariation disease BEFREE Mice with targeted deletion of <i>Ncoa4</i> specifically in the erythroid compartment developed a pronounced anemia in the immediate postnatal stage, a mild hypochromic microcytic anemia at adult stages, and were more sensitive to hemolysis with higher requirements for the Hif2a-erythropoietin axis and extramedullary erythropoiesis during recovery. 30630985 2019
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.010 AlteredExpression disease BEFREE Our study has uncovered high FOXA1-induced enhancer reprogramming and HIF-2α-dependent transcriptional programs as vulnerable targets for treating endocrine-resistant and metastatic breast cancer. 31826955 2019
CUI: C0278704
Disease: Malignant Childhood Neoplasm
Malignant Childhood Neoplasm
0.010 AlteredExpression disease BEFREE Cellular levels of the HIF-2α transcription factor subunit influence the histopathology and clinical outcome of neuroblastoma, a malignant childhood tumor of the sympathetic ganglia. 30468780 2019
CUI: C1290884
Disease: Inflammatory disorder
Inflammatory disorder
0.010 AlteredExpression group BEFREE These data confirm our previous finding that epithelial HIF-2α mediates inflammatory response and demonstrates that activation of HIF-2α is sufficient to exacerbate colitis.<b>NEW & NOTEWORTHY</b> Inflammatory bowel disease (IBD) is a chronic relapsing inflammatory disease of the intestinal tract. 31241981 2019
CUI: C1519680
Disease: Tumor Immunity
Tumor Immunity
0.010 Biomarker phenotype BEFREE HIF-2α contributed to evasion of anti-tumor immunity via SCF secretion and subsequent recruitment of mast cells in ccRCC patients. 30758643 2019
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE
0.010 Biomarker disease BEFREE Oxygen sensing in osteocytes can confer a high bone mass phenotype in murine models; common and unique targets of HIF-1α and HIF-2α and lineage-specific deletion of oxygen sensing machinery suggest differentia utilization and requirement of HIF-α proteins in the differentiation from mesenchymal stem cell to osteoblast to osteocyte; oxygen-dependent but HIF-α-independent signaling may contribute to observed skeletal phenotypes. 30725321 2019
CUI: C1960398
Disease: HER2-positive carcinoma of breast
HER2-positive carcinoma of breast
0.010 AlteredExpression disease BEFREE HIF-2α expression is frequently higher in HER2-overexpressing tumours and is associated with worse disease-specific survival in HER2-positive breast cancer patients. 30670058 2019
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix
0.010 AlteredExpression disease BEFREE In this study, we investigated the role of miRNAs in the regulation of HIF-2α expression in cervical cancer under hypoxic conditions. miRNAs regulating HIF-2α expression were predicted using TargetScan and miRanda and were determined in cervical cancer under hypoxic conditions by qRT-PCR. 29321085 2018