Disease ID | Disease name | Source of annotation with MCPH1 | 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 |
---|---|---|
Cell Cycle | R-HSA-1640170 | 3.89 |
M Phase | R-HSA-68886 | 4.87 |
Cell Cycle, Mitotic | R-HSA-69278 | 4.16 |
Condensation of Prophase Chromosomes | R-HSA-2299718 | 7.66 |
Mitotic Prophase | R-HSA-68875 | 6.27 |
GO term | GO ID | GO IC |
---|---|---|
identical protein binding | GO:0042802 | 2.63 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |