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From SNPedia

Recessively inherited mutations in the EIF2AK4 gene have been reported to lead to rare forms of pulmonary hypertension, specifically, pulmonary capillary hemangiomatosis (PCH) and pulmonary venoocclusive disease (PVOD).[PMID 24135949OA-icon.png]

Annotated in OMIM using the term pulmonary venoocclusive disease 2, the following EIF2AK4 gene SNPs have been reported: