rs774906916, EIF2AK4

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE
CUI: C0340848
Disease: PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE
0.700 CausalMutation CLINVAR A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies. 25512148 2015
PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT
CUI: C3887658
Disease: PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT
0.010 GeneticVariation BEFREE The aims of this study were phenotypical characterization and survival analysis of Iberian Romani patients with familial PVOD carrying the founder p.Pro1115Leu mutation in EIF2AK4, according to their tolerance to pulmonary vasodilators (PVD). 28697925 2018