| Disease ID | Disease name | Source of annotation with IMPDH1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS204000 | LEBER CONGENITAL AMAUROSIS | ClinVar, OMIM, HUMSAVAR | link to OMIM | 19 | PRPH2, TULP1, LRAT, SPATA7, CEP290, RDH12, RPE65, CRX, GDF6, RPGRIP1, GUCY2D, CRB1, ROM1, KCNJ13, RD3, NMNAT1, LCA5, IMPDH1, AIPL1 |
| PS268000 | RETINITIS PIGMENTOSA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 69 | PDE6A, MAK, FSCN2, DHDDS, RHO, RP9, CNGA1, CRB1, SLC7A14, BEST1, CERKL, PRPF3, C8orf37, PROM1, TOPORS, PRPH2, PRCD, SNRNP200, IMPG2, PDE6B, IDH3B, RGR, TTC8, GUCA1B, CDHR1, PANK2, RDH12, BBS2, MERTK, RP1L1, NEK2, USH2A, ZNF408, LRAT, C2orf71, MYO7A, KLHL7, IMPDH1, ZNF513, RP1, NR2E3, PDE6G, ROM1, CYGB, ARL6, NRL, RPGR, PRPF4, RP2, IFT172, HGSNAT, TULP1, CNGB1, KIZ, EYS, OFD1, RPE65, PRPF6, FAM161A, RBP3, IFT140, PRPF8, ABCA4, CLRN1, PRPF31, SAG, CA4, CRX, SEMA4A |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Drug metabolism - other enzymes | hsa00983 | 7.21 |
| Metabolic pathways | hsa01100 | 2.49 |
| Purine metabolism | hsa00230 | 5.28 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Metabolism of nucleotides | R-HSA-15869 | 6.7 |
| Purine ribonucleoside monophosphate biosynthesis | R-HSA-73817 | 9.52 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Purine metabolism | R-HSA-73847 | 7.94 |
| GO term | GO ID | GO IC |
|---|---|---|
| oxidoreductase activity | GO:0016491 | 3.12 |
| cation binding | GO:0043169 | 1.4 |
| metal ion binding | GO:0046872 | 1.41 |
| oxidoreductase activity, acting on CH-OH group of donors | GO:0016614 | 4.83 |
| oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor | GO:0016616 | 5.0 |
| IMP dehydrogenase activity | GO:0003938 | 9.05 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| ion binding | GO:0043167 | 1.36 |
| small molecule binding | GO:0036094 | 1.89 |
| catalytic activity | GO:0003824 | 1.05 |
| RNA binding | GO:0003723 | 2.36 |
| nucleic acid binding | GO:0003676 | 1.44 |
| DNA binding | GO:0003677 | 1.92 |
| nucleotide binding | GO:0000166 | 1.96 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| nucleoside phosphate binding | GO:1901265 | 1.96 |
| binding | GO:0005488 | 0.18 |