Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 440275
Gene Symbol: EIF2AK4
EIF2AK4
CUI: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		0.300 GermlineCausalMutation ORPHANET A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies. 25512148

2015