Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152171
Disease: Idiopathic pulmonary hypertension
Idiopathic pulmonary hypertension
0.310 Biomarker disease GENOMICS_ENGLAND "Response by Hadinnapola et al to Letter Regarding Article, ""Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension""." 29844075 2018
CUI: C0152171
Disease: Idiopathic pulmonary hypertension
Idiopathic pulmonary hypertension
0.310 GeneticVariation disease BEFREE The aim of this study was to describe the frequency of pathogenic EIF2AK4 mutations in patients diagnosed clinically with IPAH or HPAH. 27884767 2017