Purine Nucleoside Phosphorylase Deficiency Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder caused by a mutaion in the PNP gene and characterized mainly by decreased T-cell function. (Human Disease Ontology, DOID_5813)
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:C562587
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1 genes/proteins associated with the disease Purine Nucleoside Phosphorylase Deficiency from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
PNP purine nucleoside phosphorylase 2.88009