Table 3.

Strength of PVOD/PCH-EIF2AK4 relationship.

Gene	Gene name	MOIa	Genetic evidence	Variant type scoredb	Experimental evidence	Evidence type scoredc	Total score	>3 yrs?	Classification	Tissue/cell expressiond	Molecular mechanisme
EIF2AK4	Eukaryotic translation initiation factor 2 alpha kinase 4	AR	12	pLOF, missense	0.5	F/expression	12.5	Y 2014	Definitive	Lung, PASMCs	LOF

PVOD/PCH, pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis.

^aAR, autosomal recessive

^bpLOF, predicted loss of function, including nonsense, frameshift, and canonical splice variants.

^cF, function (relevant expression).

^dPASMCs, pulmonary artery smooth muscle cells.

^eLOF, loss of function.