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EIF2AK4

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: