| Disease ID | Disease name | Source of annotation with DHH | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 607080 | 46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY | OMIM | link to OMIM | 1 | DHH |
| PS400044 | 46,XY SEX REVERSAL | OMIM, HUMSAVAR | link to OMIM | 9 | AKR1C2, AKR1C4, NR0B1, SRY, MAP3K1, CBX2, NR5A1, DHH, ZFPM2 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Hedgehog signaling pathway | hsa04340 | 7.01 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Class B/2 (Secretin family receptors) | R-HSA-373080 | 6.52 |
| Signaling by GPCR | R-HSA-372790 | 2.68 |
| Hedgehog ligand biogenesis | R-HSA-5358346 | 6.98 |
| Hedgehog 'on' state | R-HSA-5632684 | 6.62 |
| Ligand-receptor interactions | R-HSA-5632681 | 9.98 |
| Signaling by Hedgehog | R-HSA-5358351 | 5.79 |
| GPCR ligand binding | R-HSA-500792 | 4.19 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| Release of Hh-Np from the secreting cell | R-HSA-5362798 | 9.98 |
| GO term | GO ID | GO IC |
|---|---|---|
| hydrolase activity | GO:0016787 | 1.9 |
| calcium ion binding | GO:0005509 | 3.17 |
| transition metal ion binding | GO:0046914 | 2.48 |
| cation binding | GO:0043169 | 1.4 |
| ion binding | GO:0043167 | 1.36 |
| catalytic activity | GO:0003824 | 1.05 |
| zinc ion binding | GO:0008270 | 2.66 |
| protein binding | GO:0005515 | 0.46 |
| 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 |
| binding | GO:0005488 | 0.18 |