| Disease ID | Disease name | Source of annotation with PTCH1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS142623 | HIRSCHSPRUNG DISEASE | ClinVar | link to OMIM | 21 | TSC2, THBS4, PTCH1, NTF3, EDN3, AHNAK, ZHX2, GFRA1, KDR, PLAU, IRAK3, FBN1, RET, CNTN5, DPYD, GDNF, EDNRB, CREBBP, SEMA3D, FAT3, POLR2F |
| 109400 | BASAL CELL NEVUS SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 3 | PTCH2, PTCH1, SUFU |
| PS236100 | HOLOPROSENCEPHALY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 8 | GAS1, PTCH1, GLI2, ZIC2, SHH, TGIF1, CDON, SIX3 |
| 605462 | BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1 | OMIM, HUMSAVAR | link to OMIM | 4 | RASA1, PTCH2, PTCH1, SMO |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Proteoglycans in cancer | hsa05205 | 5.02 |
| Hedgehog signaling pathway | hsa04340 | 7.01 |
| Pathways in cancer | hsa05200 | 3.98 |
| cAMP signaling pathway | hsa04024 | 5.05 |
| Basal cell carcinoma | hsa05217 | 6.79 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Class B/2 (Secretin family receptors) | R-HSA-373080 | 6.52 |
| Hedgehog 'off' state | R-HSA-5610787 | 6.19 |
| Signaling by GPCR | R-HSA-372790 | 2.68 |
| 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 |
| GO term | GO ID | GO IC |
|---|---|---|
| signaling receptor activity | GO:0038023 | 2.49 |
| molecular transducer activity | GO:0060089 | 2.32 |
| macromolecular complex binding | GO:0044877 | 2.61 |
| binding | GO:0005488 | 0.18 |
| signal transducer activity | GO:0004871 | 2.28 |
| sulfur compound binding | GO:1901681 | 4.32 |
| hedgehog family protein binding | GO:0097108 | 8.64 |
| smoothened binding | GO:0005119 | 8.64 |
| protein complex binding | GO:0032403 | 3.09 |
| patched binding | GO:0005113 | 7.66 |
| sterol binding | GO:0032934 | 5.98 |
| cyclin binding | GO:0030332 | 6.74 |
| lipid binding | GO:0008289 | 3.26 |
| small molecule binding | GO:0036094 | 1.89 |
| steroid binding | GO:0005496 | 5.24 |
| hedgehog receptor activity | GO:0008158 | 8.64 |
| heparin binding | GO:0008201 | 4.68 |
| cholesterol binding | GO:0015485 | 6.1 |
| alcohol binding | GO:0043178 | 5.53 |
| carbohydrate derivative binding | GO:0097367 | 2.03 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| glycosaminoglycan binding | GO:0005539 | 4.42 |
| transmembrane signaling receptor activity | GO:0004888 | 2.57 |
| protein binding | GO:0005515 | 0.46 |
| receptor binding | GO:0005102 | 2.43 |
| transmembrane receptor activity | GO:0099600 | 2.53 |
| receptor activity | GO:0004872 | 2.32 |