rs774906916, EIF2AK4

N. diseases: 2
Disease: PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE ×
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