| Disease ID | Disease name | Source of annotation with BBS5 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS209900 | BARDET-BIEDL SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 23 | ARL6, BBS7, KIF7, BBS12, BBS2, BBIP1, TMEM67, LZTFL1, BBS4, TRIM32, MKKS, CCDC28B, WDPCP, CEP290, BBS9, TTC8, BBS10, TTC21B, BBS5, IFT27, MKS1, BBS1, SDCCAG8 |
Download the gene annotation in CSV format
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Cargo trafficking to the periciliary membrane | R-HSA-5620920 | 7.31 |
| Organelle biogenesis and maintenance | R-HSA-1852241 | 4.63 |
| BBSome-mediated cargo-targeting to cilium | R-HSA-5620922 | 8.46 |
| Assembly of the primary cilium | R-HSA-5617833 | 5.44 |
| GO term | GO ID | GO IC |
|---|---|---|
| RNA polymerase II transcription factor binding | GO:0001085 | 5.08 |
| phosphatidylinositol binding | GO:0035091 | 4.47 |
| transcription factor binding | GO:0008134 | 3.46 |
| phospholipid binding | GO:0005543 | 3.91 |
| lipid binding | GO:0008289 | 3.26 |
| phosphatidylinositol phosphate binding | GO:1901981 | 5.05 |
| phosphatidylinositol-3-phosphate binding | GO:0032266 | 6.3 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| RNA polymerase II repressing transcription factor binding | GO:0001103 | 6.44 |
| repressing transcription factor binding | GO:0070491 | 5.71 |