Disease ID | Disease name | Source of annotation with CEP120 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS208500 | SHORT-RIB THORACIC DYSPLASIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 14 | CEP120, DYNC2H1, IFT80, IFT172, EVC, EVC2, IFT140, TTC21B, KIAA0586, WDR35, WDR19, WDR34, WDR60, NEK1 |
Download the gene annotation in CSV format
GO term | GO ID | GO IC |
---|---|---|
protein C-terminus binding | GO:0008022 | 4.5 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |