| Disease ID | Disease name | Source of annotation with SHH | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS236100 | HOLOPROSENCEPHALY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 8 | GAS1, PTCH1, GLI2, ZIC2, SHH, TGIF1, CDON, SIX3 |
| PS300345 | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA | OMIM | link to OMIM | 8 | TENM3, RBP4, GDF6, SHH, STRA6, GDF3, ABCB6, VSX2 |
| 147250 | SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | SIX3, SHH |
| 269160 | SCHIZENCEPHALY | OMIM | link to OMIM | 4 | SIX3, EMX2, COL4A1, SHH |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Hedgehog signaling pathway | hsa04340 | 7.01 |
| Pathways in cancer | hsa05200 | 3.98 |
| Basal cell carcinoma | hsa05217 | 6.79 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Class B/2 (Secretin family receptors) | R-HSA-373080 | 6.52 |
| Ligand-receptor interactions | R-HSA-5632681 | 9.98 |
| Signaling by GPCR | R-HSA-372790 | 2.68 |
| Diseases of signal transduction | R-HSA-5663202 | 4.89 |
| Hh mutants abrogate ligand secretion | R-HSA-5387390 | 7.2 |
| Hedgehog ligand biogenesis | R-HSA-5358346 | 6.98 |
| Hedgehog 'on' state | R-HSA-5632684 | 6.62 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| Hh mutants that don't undergo autocatalytic processing are degraded by ERAD | R-HSA-5362768 | 7.2 |
| Signaling by Hedgehog | R-HSA-5358351 | 5.79 |
| GPCR ligand binding | R-HSA-500792 | 4.19 |
| Disease | R-HSA-1643685 | 3.33 |
| Release of Hh-Np from the secreting cell | R-HSA-5362798 | 9.98 |
| GO term | GO ID | GO IC |
|---|---|---|
| glycoprotein binding | GO:0001948 | 5.11 |
| hydrolase activity | GO:0016787 | 1.9 |
| laminin binding | GO:0043236 | 6.34 |
| laminin-1 binding | GO:0043237 | 7.79 |
| transition metal ion binding | GO:0046914 | 2.48 |
| extracellular matrix binding | GO:0050840 | 5.79 |
| carbohydrate derivative binding | GO:0097367 | 2.03 |
| zinc ion binding | GO:0008270 | 2.66 |
| cation binding | GO:0043169 | 1.4 |
| ion binding | GO:0043167 | 1.36 |
| glycosaminoglycan binding | GO:0005539 | 4.42 |
| catalytic activity | GO:0003824 | 1.05 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| morphogen activity | GO:0016015 | 7.79 |
| peptidase activity | GO:0008233 | 3.23 |
| metal ion binding | GO:0046872 | 1.41 |
| patched binding | GO:0005113 | 7.66 |
| receptor binding | GO:0005102 | 2.43 |
| calcium ion binding | GO:0005509 | 3.17 |