EPAS1, endothelial PAS domain protein 1, 2034

N. diseases: 293; N. variants: 35
Disease: Erythrocytosis due to low atmospheric pressure ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0272139
Disease: Erythrocytosis due to low atmospheric pressure
Erythrocytosis due to low atmospheric pressure 		0.030 Biomarker disease BEFREE To explore the hereditary basis of HAPC and investigate the association between three genes (<i>EPAS1, ITGA6, ERBB4</i>) and HAPC in Chinese Han and Tibetan populations. 29156832 2017
CUI: C0272139
Disease: Erythrocytosis due to low atmospheric pressure
Erythrocytosis due to low atmospheric pressure 		0.030 GeneticVariation disease BEFREE Compared with normal Tibetans, Tibetans with HAPC are maladapted and have a different haplotype in EPAS1 SNPs rs12619696, rs13419896, and rs4953354. 25792003 2015
CUI: C0272139
Disease: Erythrocytosis due to low atmospheric pressure
Erythrocytosis due to low atmospheric pressure 		0.030 GeneticVariation disease BEFREE Carriers of this EPAS1 haplotype (G-G-G, rs13419896, rs4953354, and rs1868092) may have a higher risk for HAPC. 25239027 2014