Disease ID | Disease name | Source of annotation with ITPA | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
613850 | INOSINE TRIPHOSPHATASE DEFICIENCY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | ITPA |
PS308350 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE | ClinVar, OMIM | link to OMIM | 37 | KCNT1, EEF1A2, SZT2, ALG13, ST3GAL3, WWOX, ITPA, SIK1, SCN1A, ARHGEF9, GNAO1, TBC1D24, DNM1, SLC35A2, GRIN2B, SLC13A5, SLC25A22, HCN1, KCNB1, STXBP1, SCN9A, PNKP, KCNQ2, SPTAN1, KCNA2, SCN2A, PLCB1, AARS, PCDH19, CDKL5, GABRA1, SLC12A5, DOCK7, ARX, SCN8A, NECAP1, PIGA |
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KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Drug metabolism - other enzymes | hsa00983 | 7.21 |
Metabolic pathways | hsa01100 | 2.49 |
Pyrimidine metabolism | hsa00240 | 6.01 |
Purine metabolism | hsa00230 | 5.28 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Metabolism of nucleotides | R-HSA-15869 | 6.7 |
Metabolism | R-HSA-1430728 | 2.34 |
GO term | GO ID | GO IC |
---|---|---|
hydrolase activity | GO:0016787 | 1.9 |
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides | GO:0016818 | 3.03 |
metal ion binding | GO:0046872 | 1.41 |
catalytic activity | GO:0003824 | 1.05 |
nucleotide binding | GO:0000166 | 1.96 |
organic cyclic compound binding | GO:0097159 | 1.05 |
ITP diphosphatase activity | GO:0036220 | 9.74 |
hydrolase activity, acting on acid anhydrides | GO:0016817 | 3.03 |
dITP diphosphatase activity | GO:0035870 | 9.05 |
small molecule binding | GO:0036094 | 1.89 |
pyrophosphatase activity | GO:0016462 | 3.04 |
cation binding | GO:0043169 | 1.4 |
binding | GO:0005488 | 0.18 |
XTP diphosphatase activity | GO:0036222 | 9.74 |
nucleoside-triphosphate diphosphatase activity | GO:0047429 | 7.66 |
ion binding | GO:0043167 | 1.36 |
heterocyclic compound binding | GO:1901363 | 1.06 |
nucleoside phosphate binding | GO:1901265 | 1.96 |