Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 440275
Gene Symbol: EIF2AK4
EIF2AK4
0.440 GeneticVariation disease BEFREE Novel EIF2AK4 mutations in histologically proven pulmonary capillary hemangiomatosis and hereditary pulmonary arterial hypertension. 31711431 2019
Entrez Id: 440275
Gene Symbol: EIF2AK4
EIF2AK4
0.440 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
0.440 GeneticVariation disease BEFREE EIF2AK4 Mutations in Patients Diagnosed With Pulmonary Arterial Hypertension. 27884767 2017
Entrez Id: 440275
Gene Symbol: EIF2AK4
EIF2AK4
0.440 GeneticVariation disease BEFREE In this study we assessed if EIF2AK4 mutations occur also in a family with autosomal dominantly inherited pulmonary arterial hypertension (HPAH) and incomplete penetrance of bone morphogenic protein receptor 2 (BMPR2) mutations. 27809840 2016
Entrez Id: 440275
Gene Symbol: EIF2AK4
EIF2AK4
0.440 GeneticVariation disease BEFREE We applied SNP-array-based homozygosity mapping in three families and obtained, among others, one of which included the gene EIF2AK4, recently reported in patients with PAH from group-1' pulmonary veno-occlusive disease (PVOD) and pulmonary capillary hemangiomatosis (PCH). 25512148 2015
Entrez Id: 440275
Gene Symbol: EIF2AK4
EIF2AK4
0.440 Biomarker disease HPO