Disease ID | Disease name | Source of annotation with IFT80 | 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
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Organelle biogenesis and maintenance | R-HSA-1852241 | 4.63 |
Intraflagellar transport | R-HSA-5620924 | 7.25 |
Assembly of the primary cilium | R-HSA-5617833 | 5.44 |