Disease ID | Disease name | Source of annotation with PTCH2 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
109400 | BASAL CELL NEVUS SYNDROME | ClinVar, OMIM | link to OMIM | 3 | PTCH2, PTCH1, SUFU |
155255 | MEDULLOBLASTOMA | OMIM | link to OMIM | 5 | APC, BRCA2, CTNNB1, PTCH2, SUFU |
605462 | BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1 | OMIM | link to OMIM | 4 | RASA1, PTCH2, PTCH1, SMO |
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 |
GPCR ligand binding | R-HSA-500792 | 4.19 |
Signal Transduction | R-HSA-162582 | 1.78 |
Signaling by GPCR | R-HSA-372790 | 2.68 |
GO term | GO ID | GO IC |
---|---|---|
hedgehog family protein binding | GO:0097108 | 8.64 |
signaling receptor activity | GO:0038023 | 2.49 |
signal transducer activity | GO:0004871 | 2.28 |
smoothened binding | GO:0005119 | 8.64 |
molecular transducer activity | GO:0060089 | 2.32 |
transmembrane signaling receptor activity | GO:0004888 | 2.57 |
receptor activity | GO:0004872 | 2.32 |
protein binding | GO:0005515 | 0.46 |
receptor binding | GO:0005102 | 2.43 |
hedgehog receptor activity | GO:0008158 | 8.64 |
transmembrane receptor activity | GO:0099600 | 2.53 |
binding | GO:0005488 | 0.18 |