Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
0.400 GeneticVariation disease BEFREE Somatic HIF2A mutations (p.A530V, p.P531S, and p.D539N) were identified in DNA extracted from PGLs of 3 patients. 30644531 2019
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
0.400 AlteredExpression disease BEFREE 3-MT = 3-methoxytyramine; EPAS1 = endothelial pas domain protein 1; FH = fumarate hydratase; HIF2A = hypoxia inducible factor type 2A; MEN2 = multiple endocrine neoplasia type 2; NF1 = neurofibromatosis type 1; PNMT = phenylethanolamine N-methyltransferase; PPGL = pheochromocytoma and paraganglioma; RET = rearranged during transfection; SDH = succinate dehydrogenase; SDHAF2 = succinate dehydrogenase complex assembly factor 2; TCA = tricarboxylic acid; TH = tyrosine hydroxylase; TMEM127 = transmembrane protein 127; VHL = von Hippel-Lindau. 28332883 2017
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
0.400 GeneticVariation disease BEFREE The HIF2α mutation-induced polycythemia with PCC/PGL is a rare syndrome with no treatment for cure. 28116635 2017
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
0.400 Biomarker disease BEFREE New HIF2α inhibitors: potential implications as therapeutics for advanced pheochromocytomas and paragangliomas. 28667082 2017
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
0.400 Biomarker disease BEFREE The existence of mutated HIF2A in these tumours, the role of oncometabolites on HIFs stabilisation and a recent concept proposing how hereditary PGLs converge on the hypoxia-signalling pathway, brought solid evidence of the existence of PGL hypoxiom. 28946040 2017
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
0.400 Biomarker disease BEFREE Significance analysis of microarray yielded 875 differentially expressed genes between HIF2A and other pseudohypoxic PGLs after normalization to adrenal medulla (false discovery rate 0.01). 27659016 2016
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
0.400 AlteredExpression disease BEFREE Immunohistochemistry of skull base PGL demonstrated heavy expression of TH and HIF-2α but reduced expression of HIF-1α. 26492543 2016
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
0.400 Biomarker disease BEFREE Mutations in genes involved in the cellular hypoxia response have been identified in tumors, and recently EPAS1, encoding HIF2α, has been revealed to be a new gene involved in the pathogenesis of pheochromocytoma and abdominal paraganglioma. 24741025 2014
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
0.400 GeneticVariation disease BEFREE Through sequencing of the HIF2A using DNA from paraganglioma in 15-year-old male patient, we identified a novel mutation of HIF2A: a heterozygous C to A substitution at base 1589 in exon 12 of HIF2A. 24819565 2014
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
0.400 GeneticVariation disease BEFREE About 60% of Pheochromocytoma (PCC) and Paraganglioma (PGL) patients have either germline or somatic mutations in one of the 12 proposed disease causing genes; SDHA, SDHB, SDHC, SDHD, SDHAF2, VHL, EPAS1, RET, NF1, TMEM127, MAX and H-RAS. 24466223 2014
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
0.400 GeneticVariation disease BEFREE Recent data suggest that both clusters are interconnected via the HIF signaling and its role in tumorigenesis is supported by newly described somatic and germline mutations in HIF2A gene in patients with PHEOs/PGLs associated with polycythemia, and in some of them also with somatostatinoma. 24908231 2014
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
0.400 GeneticVariation disease BEFREE In patient 1, we identified a somatic HIF2A mutation (c.1586T>C; p.Leu529Pro) in DNA extracted from both paragangliomas. 24276449 2014
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
0.400 GeneticVariation disease BEFREE A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma. 23090011 2013
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
0.400 Biomarker disease BEFREE The finding that EPAS1 is involved in the sporadic presentation of the disease not only increases the percentage of PCCs/PGLs with known driver mutations, but also highlights the relevance of studying other hypoxia-related genes in apparently sporadic tumors. 23418310 2013
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
0.400 Biomarker disease BEFREE Our results support a direct oncogenic role for HIF2A in human neoplasia and strengthen the link between hypoxic pathways and pheochromocytomas and paragangliomas. 23533246 2013
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
0.400 GeneticVariation disease BEFREE In this issue of Endocrine-Related Cancer, Toledo et al. report the identification of activating mutations in the HIF2 (EPAS1) transcription factor in a subset of sporadic pheochromocytomas and paragangliomas. 23653463 2013
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
0.400 GeneticVariation disease BEFREE Recently, a new syndrome characterized by multiple PGLs and somatostatinomas associated with congenital polycythemia due to somatic mutations in HIF2A has been reported. 23539726 2013
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
0.400 GeneticVariation disease BEFREE Here we report two novel somatic gain-of-function mutations in the gene encoding hypoxia-inducible factor 2α (HIF2A) in two patients, one presenting with paraganglioma and the other with paraganglioma and somatostatinoma, both of whom had polycythemia. 22931260 2012
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
0.400 Biomarker disease GENOMICS_ENGLAND Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis. 18378852 2008
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
0.400 Biomarker disease BEFREE Expression of HIF-1alpha, HIF-2alpha (EPAS1), and their target genes in paraganglioma and pheochromocytoma with VHL and SDH mutations. 16954163 2006