|Dataset||ClinVar Gene-Phenotype Associations|
|Category||disease or phenotype associations|
|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)|
|Downloads & Tools|
1 genes associated with the Purine-nucleoside phosphorylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
|PNP||purine nucleoside phosphorylase|