Disease ID | Disease name | Source of annotation with EVC | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
193530 | WEYERS ACROFACIAL DYSOSTOSIS | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | EVC2, EVC |
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 |
---|---|---|
Hedgehog 'on' state | R-HSA-5632684 | 6.62 |
Activation of SMO | R-HSA-5635838 | 9.66 |
Signal Transduction | R-HSA-162582 | 1.78 |
Signaling by Hedgehog | R-HSA-5358351 | 5.79 |