| Disease ID | Disease name | Source of annotation with CASC5 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS251200 | MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE | ClinVar, OMIM, HUMSAVAR | 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 |
|---|---|---|
| RHO GTPase Effectors | R-HSA-195258 | 4.94 |
| RHO GTPases Activate Formins | R-HSA-5663220 | 6.01 |
| Resolution of Sister Chromatid Cohesion | R-HSA-2500257 | 6.18 |
| Mitotic Metaphase and Anaphase | R-HSA-2555396 | 5.45 |
| Separation of Sister Chromatids | R-HSA-2467813 | 5.55 |
| Deposition of new CENPA-containing nucleosomes at the centromere | R-HSA-606279 | 7.31 |
| Signaling by Rho GTPases | R-HSA-194315 | 4.43 |
| M Phase | R-HSA-68886 | 4.87 |
| Cell Cycle, Mitotic | R-HSA-69278 | 4.16 |
| Mitotic Anaphase | R-HSA-68882 | 5.46 |
| Nucleosome assembly | R-HSA-774815 | 7.31 |
| Cell Cycle | R-HSA-1640170 | 3.89 |
| Chromosome Maintenance | R-HSA-73886 | 6.56 |
| Mitotic Prometaphase | R-HSA-68877 | 6.08 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| GO term | GO ID | GO IC |
|---|---|---|
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |