| Disease ID | Disease name | Source of annotation with PHC1 | 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 |
|---|---|---|
| Oxidative Stress Induced Senescence | R-HSA-2559580 | 6.51 |
| Cellular Senescence | R-HSA-2559583 | 5.7 |
| SUMO E3 ligases SUMOylate target proteins | R-HSA-3108232 | 6.77 |
| Cellular responses to stress | R-HSA-2262752 | 4.56 |
| Metabolism of proteins | R-HSA-392499 | 3.41 |
| SUMOylation | R-HSA-2990846 | 6.68 |
| SUMOylation of DNA damage response and repair proteins | R-HSA-3108214 | 6.77 |
| Post-translational protein modification | R-HSA-597592 | 4.54 |
| GO term | GO ID | GO IC |
|---|---|---|
| cation binding | GO:0043169 | 1.4 |
| transition metal ion binding | GO:0046914 | 2.48 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| ion binding | GO:0043167 | 1.36 |
| zinc ion binding | GO:0008270 | 2.66 |
| nucleic acid binding | GO:0003676 | 1.44 |
| DNA binding | GO:0003677 | 1.92 |
| metal ion binding | GO:0046872 | 1.41 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| binding | GO:0005488 | 0.18 |