| Disease ID | Disease name | Source of annotation with CDK5RAP2 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 217990 | CORPUS CALLOSUM, AGENESIS OF | ClinVar | link to OMIM | 1 | CDK5RAP2 |
| PS251200 | MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE | ClinVar, OMIM | link to OMIM | 16 | CDK5RAP2, CENPE, MCPH1, MFSD2A, ANKLE2, ZNF335, CDK6, ASPM, CASC5, SASS6, STIL, CEP152, CENPJ, PHC1, CEP135, WDR62 |
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| 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 |
|---|---|---|
| transcription regulatory region DNA binding | GO:0044212 | 3.03 |
| tubulin binding | GO:0015631 | 4.1 |
| protein binding | GO:0005515 | 0.46 |
| cytoskeletal protein binding | GO:0008092 | 3.02 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| microtubule binding | GO:0008017 | 4.42 |
| regulatory region DNA binding | GO:0000975 | 3.03 |
| regulatory region nucleic acid binding | GO:0001067 | 3.03 |
| enzyme binding | GO:0019899 | 2.27 |
| protein kinase binding | GO:0019901 | 3.44 |
| kinase binding | GO:0019900 | 3.32 |
| macromolecular complex binding | GO:0044877 | 2.61 |
| binding | GO:0005488 | 0.18 |
| nucleic acid binding | GO:0003676 | 1.44 |
| DNA binding | GO:0003677 | 1.92 |
| protein complex binding | GO:0032403 | 3.09 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| calmodulin binding | GO:0005516 | 4.55 |