| Disease ID | Disease name | Source of annotation with CEP57 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS257300 | MOSAIC VARIEGATED ANEUPLOIDY SYNDROME | ClinVar, OMIM | link to OMIM | 2 | CEP57, BUB1B |
Download the gene annotation in CSV format
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Recruitment of mitotic centrosome proteins and complexes | R-HSA-380270 | 6.68 |
| Regulation of PLK1 Activity at G2/M Transition | R-HSA-2565942 | 6.66 |
| Loss of proteins required for interphase microtubule organization from the centrosome | R-HSA-380284 | 7.03 |
| Organelle biogenesis and maintenance | R-HSA-1852241 | 4.63 |
| Mitotic G2-G2/M phases | R-HSA-453274 | 6.04 |
| Anchoring of the basal body to the plasma membrane | R-HSA-5620912 | 6.51 |
| Cell Cycle, Mitotic | R-HSA-69278 | 4.16 |
| Loss of Nlp from mitotic centrosomes | R-HSA-380259 | 7.03 |
| Cell Cycle | R-HSA-1640170 | 3.89 |
| Assembly of the primary cilium | R-HSA-5617833 | 5.44 |
| Centrosome maturation | R-HSA-380287 | 6.68 |
| G2/M Transition | R-HSA-69275 | 6.06 |
| GO term | GO ID | GO IC |
|---|---|---|
| tubulin binding | GO:0015631 | 4.1 |
| cytoskeletal protein binding | GO:0008092 | 3.02 |
| microtubule binding | GO:0008017 | 4.42 |
| growth factor binding | GO:0019838 | 4.89 |
| fibroblast growth factor binding | GO:0017134 | 6.52 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| gamma-tubulin binding | GO:0043015 | 6.56 |
| protein dimerization activity | GO:0046983 | 2.72 |
| identical protein binding | GO:0042802 | 2.63 |
| protein homodimerization activity | GO:0042803 | 3.16 |