| Disease ID | Disease name | Source of annotation with DHDDS | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 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 |
|---|---|---|
| Terpenoid backbone biosynthesis | hsa00900 | 8.31 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Synthesis of substrates in N-glycan biosythesis | R-HSA-446219 | 7.28 |
| Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein | R-HSA-446193 | 6.92 |
| Diseases associated with glycosylation precursor biosynthesis | R-HSA-5609975 | 9.08 |
| Defective DHDDS causes retinitis pigmentosa 59 | R-HSA-4755609 | 12.98 |
| Metabolism of proteins | R-HSA-392499 | 3.41 |
| Synthesis of Dolichyl-phosphate | R-HSA-446199 | 10.66 |
| Asparagine N-linked glycosylation | R-HSA-446203 | 6.1 |
| Diseases of glycosylation | R-HSA-3781865 | 6.89 |
| Post-translational protein modification | R-HSA-597592 | 4.54 |
| Disease | R-HSA-1643685 | 3.33 |
| GO term | GO ID | GO IC |
|---|---|---|
| prenyltransferase activity | GO:0004659 | 6.91 |
| transferase activity, transferring alkyl or aryl (other than methyl) groups | GO:0016765 | 5.58 |
| catalytic activity | GO:0003824 | 1.05 |
| transferase activity | GO:0016740 | 1.95 |
| polyprenyltransferase activity | GO:0002094 | 9.05 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |