Condition: PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE
rs1085307439
in
EIF2AK4
gene and
PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE
PMID 24292273
2014 EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension.
PMID 24135949
2014 EIF2AK4 mutations in pulmonary capillary hemangiomatosis.
PMID 25512148
2015 A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies.