Disease ID | Disease name | Source of annotation with PNP | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
613179 | PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | PNP |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Nicotinate and nicotinamide metabolism | hsa00760 | 8.01 |
Metabolic pathways | hsa01100 | 2.49 |
Pyrimidine metabolism | hsa00240 | 6.01 |
Purine metabolism | hsa00230 | 5.28 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Metabolism | R-HSA-1430728 | 2.34 |
Metabolism of nucleotides | R-HSA-15869 | 6.7 |
Purine salvage | R-HSA-74217 | 9.28 |
Purine catabolism | R-HSA-74259 | 9.66 |
Purine metabolism | R-HSA-73847 | 7.94 |
GO term | GO ID | GO IC |
---|---|---|
anion binding | GO:0043168 | 4.17 |
carbohydrate derivative binding | GO:0097367 | 2.03 |
organic cyclic compound binding | GO:0097159 | 1.05 |
transferase activity, transferring pentosyl groups | GO:0016763 | 5.7 |
ion binding | GO:0043167 | 1.36 |
small molecule binding | GO:0036094 | 1.89 |
catalytic activity | GO:0003824 | 1.05 |
transferase activity | GO:0016740 | 1.95 |
binding | GO:0005488 | 0.18 |
transferase activity, transferring glycosyl groups | GO:0016757 | 4.08 |
nucleobase binding | GO:0002054 | 8.35 |
purine-nucleoside phosphorylase activity | GO:0004731 | 8.64 |
purine nucleobase binding | GO:0002060 | 8.64 |
drug binding | GO:0008144 | 5.03 |
heterocyclic compound binding | GO:1901363 | 1.06 |
phosphate ion binding | GO:0042301 | 7.25 |
nucleoside binding | GO:0001882 | 2.21 |