Disease ID | Disease name | Source of annotation with CEP41 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS213300 | JOUBERT SYNDROME | ClinVar, OMIM | 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 |
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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 |
---|---|---|
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |