Disease ID | Disease name | Source of annotation with CEP83 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS256100 | NEPHRONOPHTHISIS | ClinVar, OMIM, HUMSAVAR | link to OMIM | 15 | NPHP3, XPNPEP3, NEK8, TTC21B, DCDC2, TMEM67, WDR19, ZNF423, CEP164, NPHP4, ANKS6, NPHP1, INVS, GLIS2, CEP83 |
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REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Anchoring of the basal body to the plasma membrane | R-HSA-5620912 | 6.51 |
Organelle biogenesis and maintenance | R-HSA-1852241 | 4.63 |
Assembly of the primary cilium | R-HSA-5617833 | 5.44 |
GO term | GO ID | GO IC |
---|---|---|
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |