| Disease ID | Disease name | Source of annotation with LRAT | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS204000 | LEBER CONGENITAL AMAUROSIS | 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 | 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 |
|---|---|---|
| Retinol metabolism | hsa00830 | 6.79 |
| Vitamin digestion and absorption | hsa04977 | 8.24 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Retinoid metabolism and transport | R-HSA-975634 | 7.59 |
| Retinoid cycle disease events | R-HSA-2453864 | 9.28 |
| Visual phototransduction | R-HSA-2187338 | 6.44 |
| Diseases of signal transduction | R-HSA-5663202 | 4.89 |
| Diseases associated with visual transduction | R-HSA-2474795 | 9.28 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| The canonical retinoid cycle in rods (twilight vision) | R-HSA-2453902 | 8.52 |
| Disease | R-HSA-1643685 | 3.33 |
| GO term | GO ID | GO IC |
|---|---|---|
| isoprenoid binding | GO:0019840 | 6.05 |
| binding | GO:0005488 | 0.18 |
| O-acyltransferase activity | GO:0008374 | 5.85 |
| anion binding | GO:0043168 | 4.17 |
| ion binding | GO:0043167 | 1.36 |
| O-palmitoyltransferase activity | GO:0016416 | 8.13 |
| transferase activity | GO:0016740 | 1.95 |
| transferase activity, transferring acyl groups | GO:0016746 | 4.2 |
| transferase activity, transferring acyl groups other than amino-acyl groups | GO:0016747 | 4.37 |
| retinoid binding | GO:0005501 | 6.1 |
| lipid binding | GO:0008289 | 3.26 |
| small molecule binding | GO:0036094 | 1.89 |
| catalytic activity | GO:0003824 | 1.05 |
| monocarboxylic acid binding | GO:0033293 | 5.61 |
| phosphatidylcholine-retinol O-acyltransferase activity | GO:0047173 | 9.74 |
| alcohol binding | GO:0043178 | 5.53 |
| carboxylic acid binding | GO:0031406 | 4.64 |
| retinol binding | GO:0019841 | 7.17 |
| vitamin binding | GO:0019842 | 5.34 |
| retinoic acid binding | GO:0001972 | 6.6 |
| palmitoyltransferase activity | GO:0016409 | 6.15 |
| lecithin:11-cis retinol acyltransferase activity | GO:0102279 | 9.74 |