Disease ID | Disease name | Source of annotation with RDH12 | 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 |
Metabolic pathways | hsa01100 | 2.49 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Diseases associated with visual transduction | R-HSA-2474795 | 9.28 |
Visual phototransduction | R-HSA-2187338 | 6.44 |
Diseases of signal transduction | R-HSA-5663202 | 4.89 |
Retinoid cycle disease events | R-HSA-2453864 | 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 |
---|---|---|
aldo-keto reductase (NADP) activity | GO:0004033 | 6.48 |
alcohol dehydrogenase (NADP+) activity | GO:0008106 | 6.97 |
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 |
NADP-retinol dehydrogenase activity | GO:0052650 | 7.54 |
catalytic activity | GO:0003824 | 1.05 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
retinol dehydrogenase activity | GO:0004745 | 6.85 |
oxidoreductase activity | GO:0016491 | 3.12 |