| Disease ID | Disease name | Source of annotation with CEP290 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS213300 | JOUBERT SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 27 | TCTN1, C5orf42, PDE6D, ARL13B, KIF7, TMEM231, TMEM67, KIAA0586, CC2D2A, MKS1, CEP104, AHI1, CEP41, ZNF423, EXOC8, CEP290, TCTN3, NPHP1, INPP5E, OFD1, TMEM237, TMEM216, KIAA0556, CSPP1, TMEM138, RPGRIP1L, TCTN2 |
| 610189 | SENIOR-LOKEN SYNDROME 6 | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | CEP290 |
| PS204000 | LEBER CONGENITAL AMAUROSIS | ClinVar, OMIM | link to OMIM | 19 | PRPH2, TULP1, LRAT, SPATA7, CEP290, RDH12, RPE65, CRX, GDF6, RPGRIP1, GUCY2D, CRB1, ROM1, KCNJ13, RD3, NMNAT1, LCA5, IMPDH1, AIPL1 |
| PS249000 | MECKEL SYNDROME | ClinVar, OMIM | link to OMIM | 12 | NPHP3, TMEM67, TMEM216, B9D2, CC2D2A, B9D1, RPGRIP1L, MKS1, CEP290, TCTN2, KIF14, TMEM231 |
| PS209900 | BARDET-BIEDL SYNDROME | ClinVar, OMIM | 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 |
|---|---|---|
| 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 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| microtubule minus-end binding | GO:0051011 | 7.66 |