PNP across dismech

PNP (purine nucleoside phosphorylase) is named by 1 disorder entry.

Normal function

ai-gene-review gives PNP's core molecular function as purine-nucleoside phosphorylase activity, acting in inosine catabolic process; and purine-containing compound salvage: phosphorolysis of inosine, guanosine and their deoxy forms to the free purine base.

Causative record

The one entry that names PNP, Purine nucleoside phosphorylase deficiency, types it causative with a germline origin. ClinGen rates the gene definitive for this disease. The gene sits on 2 nodes, the trigger Biallelic PNP Loss-of-Function Variants and the enzyme-loss node Loss of Purine Nucleoside Phosphorolysis.

Where the layers disagree

The KB annotates the enzyme-loss node with the broader process purine nucleoside catabolic process, while ai-gene-review names specific nucleoside catabolic processes, so the two share 0 process terms by exact identifier. The ai-gene-review inosine catabolic process term is a descendant of the KB term in GO, so for catabolism the difference is one of granularity; the salvage role is recorded only on the ai-gene-review side.