| Disease ID | Disease name | Source of annotation with RPGR | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 304020 | CONE-ROD DYSTROPHY, X-LINKED, 1 | ClinVar, OMIM | link to OMIM | 1 | RPGR |
| 300834 | MACULAR DEGENERATION, X-LINKED ATROPHIC | OMIM | link to OMIM | 1 | RPGR |
| 300455 | RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS | OMIM, HUMSAVAR | link to OMIM | 1 | RPGR |
| 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
| GO term | GO ID | GO IC |
|---|---|---|
| protein binding | GO:0005515 | 0.46 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| poly(A) RNA binding | GO:0044822 | 2.69 |
| guanyl-nucleotide exchange factor activity | GO:0005085 | 4.02 |
| binding | GO:0005488 | 0.18 |
| nucleic acid binding | GO:0003676 | 1.44 |
| molecular function regulator | GO:0098772 | 2.51 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| RNA binding | GO:0003723 | 2.36 |