| Disease ID | Disease name | Source of annotation with PRPF6 | 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 |
|---|---|---|
| Spliceosome | hsa03040 | 5.73 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Gene Expression | R-HSA-74160 | 2.72 |
| mRNA Splicing - Minor Pathway | R-HSA-72165 | 7.59 |
| mRNA Splicing - Major Pathway | R-HSA-72163 | 6.15 |
| Processing of Capped Intron-Containing Pre-mRNA | R-HSA-72203 | 6.1 |
| mRNA Splicing | R-HSA-72172 | 6.15 |
| GO term | GO ID | GO IC |
|---|---|---|
| steroid hormone receptor binding | GO:0035258 | 5.32 |
| nucleic acid binding | GO:0003676 | 1.44 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| poly(A) RNA binding | GO:0044822 | 2.69 |
| nuclear hormone receptor binding | GO:0035257 | 4.7 |
| transcription cofactor activity | GO:0003712 | 3.44 |
| hormone receptor binding | GO:0051427 | 4.57 |
| transcription factor activity, transcription factor binding | GO:0000989 | 3.36 |
| macromolecular complex binding | GO:0044877 | 2.61 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| transcription factor activity, protein binding | GO:0000988 | 3.35 |
| ribonucleoprotein complex binding | GO:0043021 | 5.15 |
| RNA binding | GO:0003723 | 2.36 |
| receptor binding | GO:0005102 | 2.43 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| androgen receptor binding | GO:0050681 | 6.07 |
| transcription coactivator activity | GO:0003713 | 4.04 |