| Disease ID | Disease name | Source of annotation with RPE65 | 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 |
|---|---|---|
| Retinol metabolism | hsa00830 | 6.79 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Signal Transduction | R-HSA-162582 | 1.78 |
| Visual phototransduction | R-HSA-2187338 | 6.44 |
| The canonical retinoid cycle in rods (twilight vision) | R-HSA-2453902 | 8.52 |
| GO term | GO ID | GO IC |
|---|---|---|
| all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity | GO:0052885 | 9.74 |
| all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity | GO:0052884 | 9.74 |
| binding | GO:0005488 | 0.18 |
| oxidoreductase activity, acting on single donors with incorporation of molecular oxygen | GO:0016701 | 6.41 |
| oxidoreductase activity | GO:0016491 | 3.12 |
| cation binding | GO:0043169 | 1.4 |
| phospholipid binding | GO:0005543 | 3.91 |
| oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen | GO:0016702 | 6.44 |
| ion binding | GO:0043167 | 1.36 |
| metal ion binding | GO:0046872 | 1.41 |
| phosphatidylserine binding | GO:0001786 | 6.24 |
| hydrolase activity | GO:0016787 | 1.9 |
| lipid binding | GO:0008289 | 3.26 |
| hydrolase activity, acting on ester bonds | GO:0016788 | 3.1 |
| catalytic activity | GO:0003824 | 1.05 |
| phosphatidylcholine binding | GO:0031210 | 6.69 |
| carboxylic ester hydrolase activity | GO:0052689 | 4.81 |
| isomerase activity | GO:0016853 | 4.62 |
| modified amino acid binding | GO:0072341 | 5.56 |
| dioxygenase activity | GO:0051213 | 5.25 |
| cis-trans isomerase activity | GO:0016859 | 5.83 |
| ammonium ion binding | GO:0070405 | 5.81 |
| cardiolipin binding | GO:1901612 | 8.35 |
| phosphatidylglycerol binding | GO:1901611 | 8.13 |
| retinal isomerase activity | GO:0004744 | 9.74 |