Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 440275
Gene Symbol: EIF2AK4
EIF2AK4
0.520 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
Entrez Id: 440275
Gene Symbol: EIF2AK4
EIF2AK4
0.520 GeneticVariation disease BEFREE A novel homozygous EIF2AK4 mutation (c.257+4A>C) was identified in 1 of 9 (11.1%) patients diagnosed with HPAH. 27884767 2017
Entrez Id: 440275
Gene Symbol: EIF2AK4
EIF2AK4
0.520 GeneticVariation disease BEFREE This is the first study suggesting that EIF2AK4 can also contribute to autosomal dominantly inherited HPAH. 27809840 2016
Entrez Id: 440275
Gene Symbol: EIF2AK4
EIF2AK4
0.520 GermlineCausalMutation disease ORPHANET A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies. 25512148 2015