purine nucleoside phosphorylase deficiency Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder caused by a mutaion in the PNP gene and characterized mainly by decreased T-cell function. (Human Disease Ontology, DOID_5813)
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29 genes co-occuring with the disease purine nucleoside phosphorylase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
PNP purine nucleoside phosphorylase 2.97461
ADA adenosine deaminase 1.90288
AHCY adenosylhomocysteinase 1.43244
HPRT1 hypoxanthine phosphoribosyltransferase 1 1.31668
APRT adenine phosphoribosyltransferase 1.25863
PRPS2 phosphoribosyl pyrophosphate synthetase 2 1.24081
PRPS1 phosphoribosyl pyrophosphate synthetase 1 1.09377
ADK adenosine kinase 1.05261
ADSL adenylosuccinate lyase 1.00921
PPAT phosphoribosyl pyrophosphate amidotransferase 0.832329
DPYS dihydropyrimidinase 0.814693
PAPSS1 3'-phosphoadenosine 5'-phosphosulfate synthase 1 0.778204
CD1A CD1a molecule 0.750864
PYGB phosphorylase, glycogen; brain 0.700321
PYGL phosphorylase, glycogen, liver 0.696707
DCK deoxycytidine kinase 0.692697
PYGM phosphorylase, glycogen, muscle 0.66914
PGD phosphogluconate dehydrogenase 0.662387
TADA1 transcriptional adaptor 1 0.641039
TUB tubby bipartite transcription factor 0.630813
XDH xanthine dehydrogenase 0.468819
RAG1 recombination activating gene 1 0.32009
RRM1 ribonucleotide reductase M1 0.307033
JAK3 Janus kinase 3 0.296931
DNTT DNA nucleotidylexotransferase 0.210589
TAT tyrosine aminotransferase 0.205916
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase 0.19582
DPYD dihydropyrimidine dehydrogenase 0.171535
NT5E 5'-nucleotidase, ecto (CD73) 0.159658