| Disease ID | Disease name | Source of annotation with CDON | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS236100 | HOLOPROSENCEPHALY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 8 | GAS1, PTCH1, GLI2, SIX3, SHH, TGIF1, CDON, ZIC2 |
Download the gene annotation in CSV format
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Signaling by Hedgehog | R-HSA-5358351 | 5.79 |
| Hedgehog 'on' state | R-HSA-5632684 | 6.62 |
| Developmental Biology | R-HSA-1266738 | 3.48 |
| Ligand-receptor interactions | R-HSA-5632681 | 9.98 |
| CDO in myogenesis | R-HSA-375170 | 8.12 |
| Myogenesis | R-HSA-525793 | 8.12 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| GO term | GO ID | GO IC |
|---|---|---|
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |