| Disease ID | Disease name | Source of annotation with PRPS1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS118220 | CHARCOT-MARIE-TOOTH DISEASE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 48 | KARS, FIG4, PRPS1, FGD4, MPZ, KIF1B, NEFL, GJB1, VCP, GDAP1, AIFM1, IGHMBP2, SH3TC2, TRIM2, JPH1, PLEKHG5, NEFH, NAGLU, TRPV4, HARS, HSPB8, HSPB1, PMP22, MED25, SPG11, SBF1, DYNC1H1, SURF1, DNM2, NDRG1, MARS, SBF2, RAB7A, MORC2, AARS, COX6A1, PDK3, DHTKD1, HK1, LMNA, LRSAM1, EGR2, PRX, MTMR2, LITAF, MFN2, YARS, GARS |
| PS304500 | DEAFNESS, X-LINKED | ClinVar, OMIM, HUMSAVAR | link to OMIM | 5 | PRPS1, SMPX, AIFM1, POU3F4, COL4A6 |
| 300661 | PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY | OMIM, HUMSAVAR | link to OMIM | 1 | PRPS1 |
| PS309510 | MENTAL RETARDATION, X-LINKED SYNDROMIC | ClinVar, OMIM, HUMSAVAR | link to OMIM | 27 | AP1S2, PRPS1, SMS, RBMX, HUWE1, RAB40AL, HSD17B10, ATP6AP2, FGD1, PHF8, CLIC2, CASK, TAF1, IGBP1, CUL4B, PQBP1, NONO, UPF3B, ZDHHC9, HDAC8, UBE2A, MECP2, KDM5C, ARX, SLC9A6, GRIA3, PHF6 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Biosynthesis of amino acids | hsa01230 | 6.58 |
| Pentose phosphate pathway | hsa00030 | 7.86 |
| Metabolic pathways | hsa01100 | 2.49 |
| Carbon metabolism | hsa01200 | 6.03 |
| Purine metabolism | hsa00230 | 5.28 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| 5-Phosphoribose 1-diphosphate biosynthesis | R-HSA-73843 | 11.4 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Metabolism of carbohydrates | R-HSA-71387 | 4.93 |
| GO term | GO ID | GO IC |
|---|---|---|
| purine ribonucleoside triphosphate binding | GO:0035639 | 2.22 |
| carbohydrate binding | GO:0030246 | 4.17 |
| binding | GO:0005488 | 0.18 |
| ion binding | GO:0043167 | 1.36 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| nucleoside phosphate binding | GO:1901265 | 1.96 |
| nucleoside binding | GO:0001882 | 2.21 |
| cation binding | GO:0043169 | 1.4 |
| magnesium ion binding | GO:0000287 | 4.41 |
| nucleotide binding | GO:0000166 | 1.96 |
| guanyl ribonucleotide binding | GO:0032561 | 3.73 |
| transferase activity | GO:0016740 | 1.95 |
| purine nucleoside binding | GO:0001883 | 2.22 |
| ribonucleoside binding | GO:0032549 | 2.22 |
| purine nucleotide binding | GO:0017076 | 2.19 |
| metal ion binding | GO:0046872 | 1.41 |
| identical protein binding | GO:0042802 | 2.63 |
| protein homodimerization activity | GO:0042803 | 3.16 |
| AMP binding | GO:0016208 | 7.44 |
| kinase activity | GO:0016301 | 2.93 |
| small molecule binding | GO:0036094 | 1.89 |
| catalytic activity | GO:0003824 | 1.05 |
| ADP binding | GO:0043531 | 6.24 |
| diphosphotransferase activity | GO:0016778 | 7.79 |
| adenyl nucleotide binding | GO:0030554 | 2.4 |
| carbohydrate derivative binding | GO:0097367 | 2.03 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| ribose phosphate diphosphokinase activity | GO:0004749 | 8.13 |
| guanyl nucleotide binding | GO:0019001 | 3.73 |
| GDP binding | GO:0019003 | 5.81 |
| adenyl ribonucleotide binding | GO:0032559 | 2.41 |
| ATP binding | GO:0005524 | 2.43 |
| protein binding | GO:0005515 | 0.46 |
| transferase activity, transferring phosphorus-containing groups | GO:0016772 | 2.77 |
| purine ribonucleotide binding | GO:0032555 | 2.2 |
| protein dimerization activity | GO:0046983 | 2.72 |
| purine ribonucleoside binding | GO:0032550 | 2.22 |
| ribonucleotide binding | GO:0032553 | 2.19 |