EPAS1, endothelial PAS domain protein 1, 2034

N. diseases: 153; N. variants: 25
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
0.100 Biomarker disease BEFREE New HIF2α inhibitors: potential implications as therapeutics for advanced pheochromocytomas and paragangliomas. 28667082 2018
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
0.100 GeneticVariation disease BEFREE A Somatic HIF2α Mutation-Induced Multiple and Recurrent Pheochromocytoma/Paraganglioma with Polycythemia: Clinical Study with Literature Review. 28116635 2017
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
0.100 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 2015
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
0.100 Biomarker disease BEFREE Mosaicism in HIF2A-related polycythemia-paraganglioma syndrome. 24276449 2014
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
0.100 GeneticVariation disease BEFREE Polycythemia and paraganglioma with a novel somatic HIF2A mutation in a male. 24819565 2014
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
0.100 GeneticVariation disease BEFREE In vivo and in vitro oncogenic effects of HIF2A mutations in pheochromocytomas and paragangliomas. 23533246 2013
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
0.100 GeneticVariation disease BEFREE Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis. 23418310 2013
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
0.100 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
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
0.100 GeneticVariation disease BEFREE First report of bilateral pheochromocytoma in the clinical spectrum of HIF2A-related polycythemia-paraganglioma syndrome. 23539726 2013
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
0.100 GeneticVariation disease BEFREE A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma. 23090011 2013
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
0.100 GeneticVariation disease BEFREE Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia. 22931260 2012
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
0.100 Biomarker disease BEFREE Expression of HIF-1alpha, HIF-2alpha (EPAS1), and their target genes in paraganglioma and pheochromocytoma with VHL and SDH mutations. 16954163 2007