PNP, purine nucleoside phosphorylase, 4860

N. diseases: 161; N. variants: 13
Disease: Purine-nucleoside phosphorylase deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268125
Disease: Purine-nucleoside phosphorylase deficiency
Purine-nucleoside phosphorylase deficiency 		0.960 Biomarker disease BEFREE Here, seeking to expand the utility of DT as a delivery vector, we asked whether an active human enzyme, purine nucleoside phosphorylase (PNP), could be delivered by DT into cells to rescue PNP deficiency. 30212635 2018
CUI: C0268125
Disease: Purine-nucleoside phosphorylase deficiency
Purine-nucleoside phosphorylase deficiency 		0.960 GeneticVariation disease CLINVAR Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots. 24767876 2014
CUI: C0268125
Disease: Purine-nucleoside phosphorylase deficiency
Purine-nucleoside phosphorylase deficiency 		0.960 CausalMutation disease CLINVAR Purine nucleoside phosphorylase deficiency: a mutation update. 22132981 2011
CUI: C0268125
Disease: Purine-nucleoside phosphorylase deficiency
Purine-nucleoside phosphorylase deficiency 		0.960 GeneticVariation disease BEFREE Purine nucleoside phosphorylase deficiency with a novel PNP gene mutation: a first case report from India. 22669887 2011
CUI: C0268125
Disease: Purine-nucleoside phosphorylase deficiency
Purine-nucleoside phosphorylase deficiency 		0.960 Biomarker disease BEFREE Activated T cells seem to rely heavily on PNP to remain functionally active and are particularly sensitive to PNP deficiency. 20572921 2010
CUI: C0268125
Disease: Purine-nucleoside phosphorylase deficiency
Purine-nucleoside phosphorylase deficiency 		0.960 Biomarker disease BEFREE Our data demonstrate that TAT changes the properties of PNP in vivo and that long-term intracellular delivery of PNP by TAT corrects PNP deficiency in mice. 16964310 2006
CUI: C0268125
Disease: Purine-nucleoside phosphorylase deficiency
Purine-nucleoside phosphorylase deficiency 		0.960 Biomarker disease BEFREE Intracellular delivery of purine nucleoside phosphorylase (PNP) fused to protein transduction domain corrects PNP deficiency in vitro. 16930574 2006
CUI: C0268125
Disease: Purine-nucleoside phosphorylase deficiency
Purine-nucleoside phosphorylase deficiency 		0.960 Biomarker disease GENOMICS_ENGLAND Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient. 11453975 2001
CUI: C0268125
Disease: Purine-nucleoside phosphorylase deficiency
Purine-nucleoside phosphorylase deficiency 		0.960 GermlineCausalMutation disease ORPHANET Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient. 11453975 2001
CUI: C0268125
Disease: Purine-nucleoside phosphorylase deficiency
Purine-nucleoside phosphorylase deficiency 		0.960 GeneticVariation disease CLINVAR Mutations in purine nucleoside phosphorylase deficiency. 9067751 1997
CUI: C0268125
Disease: Purine-nucleoside phosphorylase deficiency
Purine-nucleoside phosphorylase deficiency 		0.960 CausalMutation disease CLINVAR Mutations in purine nucleoside phosphorylase deficiency. 9067751 1997
CUI: C0268125
Disease: Purine-nucleoside phosphorylase deficiency
Purine-nucleoside phosphorylase deficiency 		0.960 Biomarker disease MGD Point mutations at the purine nucleoside phosphorylase locus impair thymocyte differentiation in the mouse. 9122228 1997
CUI: C0268125
Disease: Purine-nucleoside phosphorylase deficiency
Purine-nucleoside phosphorylase deficiency 		0.960 GeneticVariation disease UNIPROT Two novel missense and frameshift mutations in exons 5 and 6 of the purine nucleoside phosphorylase (PNP) gene in a severe combined immunodeficiency (SCID) patient. 8931706 1996
CUI: C0268125
Disease: Purine-nucleoside phosphorylase deficiency
Purine-nucleoside phosphorylase deficiency 		0.960 GeneticVariation disease CLINVAR Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency. 1384322 1992
CUI: C0268125
Disease: Purine-nucleoside phosphorylase deficiency
Purine-nucleoside phosphorylase deficiency 		0.960 CausalMutation disease CLINVAR Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency. 1384322 1992
CUI: C0268125
Disease: Purine-nucleoside phosphorylase deficiency
Purine-nucleoside phosphorylase deficiency 		0.960 GeneticVariation disease UNIPROT Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency. 1384322 1992
CUI: C0268125
Disease: Purine-nucleoside phosphorylase deficiency
Purine-nucleoside phosphorylase deficiency 		0.960 Biomarker disease MGD Genetic models of purine nucleoside phosphorylase deficiency in the mouse. 1781357 1991
CUI: C0268125
Disease: Purine-nucleoside phosphorylase deficiency
Purine-nucleoside phosphorylase deficiency 		0.960 Biomarker disease MGD Rescue of a lethal purine nucleoside phosphorylase mutation in the mouse via a second locus interaction. 1781356 1991
CUI: C0268125
Disease: Purine-nucleoside phosphorylase deficiency
Purine-nucleoside phosphorylase deficiency 		0.960 Biomarker disease MGD Genetic deficiency of purine nucleoside phosphorylase in the mouse. Characterization of partially and severely enzyme deficient mutants. 2516826 1989
CUI: C0268125
Disease: Purine-nucleoside phosphorylase deficiency
Purine-nucleoside phosphorylase deficiency 		0.960 GeneticVariation disease UNIPROT A human purine nucleoside phosphorylase deficiency caused by a single base change. 3029074 1987
CUI: C0268125
Disease: Purine-nucleoside phosphorylase deficiency
Purine-nucleoside phosphorylase deficiency 		0.960 GeneticVariation disease BEFREE Laboratory studies and an evaluation of kinetic and physical properties of erythrocyte purine nucleoside phosphorylase give evidence that a) the degree of abnormality in uric acid and nucleoside concentrations in plasma and urine reflect the severity of the enzymatic deficiency and b) structural alterations of the mutant enzymes result from structural gene mutations and demonstrate genetic heterogeneity in the disease purine nucleoside phosphorylase deficiency. 36100 1979
CUI: C0268125
Disease: Purine-nucleoside phosphorylase deficiency
Purine-nucleoside phosphorylase deficiency 		0.960 Biomarker disease CTD_human
CUI: C0268125
Disease: Purine-nucleoside phosphorylase deficiency
Purine-nucleoside phosphorylase deficiency 		0.960 Biomarker disease GENOMICS_ENGLAND