Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0340100
Disease: High altitude pulmonary edema
High altitude pulmonary edema
0.040 GeneticVariation disease BEFREE Statistical analyses of the genotype frequencies of the SNPs revealed significant differences in the ACE (rs4309), EGLN1 (rs480902), SP-A2 (rs1965708), HSP70 (rs1008438), PAI-1 (rs1799889), and NOS (rs199983) expressions between the HAPE and healthy control groups (P < 0.05); therefore, these SNP loci were believed to indicate HAPE susceptibility. 26436397 2015
CUI: C0340100
Disease: High altitude pulmonary edema
High altitude pulmonary edema
0.040 GeneticVariation disease BEFREE A combination of derived EGLN1 allele (HAPE associated) and ancestral VWF allele (thrombosis associated) was significantly high in Kapha group compared to Pitta (p < 10(-5)). 26047609 2015
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: C0340100
Disease: High altitude pulmonary edema
High altitude pulmonary edema
0.040 GeneticVariation disease BEFREE Thus, EGLN1 polymorphisms are associated with high-altitude adaptation, and a genotype rare in highlanders but overrepresented in a subgroup of normal lowlanders discernable by Ayurveda may confer increased risk for high-altitude pulmonary edema. 20956315 2010