PNP, purine nucleoside phosphorylase, 4860

N. diseases: 161; N. variants: 13
Disease: Immune System Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		0.020 Biomarker group BEFREE Purine nucleoside phosphorylase (PNP) deficiency results in severe immune dysfunction and early death from infections. 15571269 2004
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		0.020 Biomarker group BEFREE In addition, adenosine deaminase (ADA) and purine nucleoside phosphorylase (PNP), enzymes deficient in inherited immune disorders, are detected in chorionic villus samples. 3927283 1985