PNP, purine nucleoside phosphorylase, 4860

N. diseases: 161; N. variants: 13
Disease: Metabolic Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		0.020 GeneticVariation group BEFREE Purine nucleoside phosphorylase (PNP) deficiency, a rare autosomal recessive metabolic disease causes combined immunodeficiency and developmental delay, hypotonia, and spasticity. 28674683 2017
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		0.020 Biomarker group BEFREE Frequent TAT-PNP injections in PNP-deficient mice corrected the metabolic disorder and immune defects with no apparent toxicity. 16964310 2006