Purine-nucleoside phosphorylase deficiency Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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://www.omim.org/entry/613179
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Genes

1 genes associated with the Purine-nucleoside phosphorylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
PNP purine nucleoside phosphorylase