PNP, purine nucleoside phosphorylase, 4860

N. diseases: 161; N. variants: 13
Disease: Combined immunodeficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		0.320 GeneticVariation disease BEFREE Purine nucleoside phosphorylase (PNP) is a known yet rare cause of combined immunodeficiency with a heterogeneous clinical presentation. 31707514 2020
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		0.320 Biomarker disease BEFREE DBS samples from 9 patients with genetically confirmed PNP-combined immunodeficiency, 10,000 DBS samples from healthy newborns, and 240 DBSs from healthy donors of different age ranges were examined. 24767876 2014
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		0.320 Biomarker disease GENOMICS_ENGLAND