| Disease ID | Disease name | Source of annotation with PKP1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 604536 | ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME | OMIM | link to OMIM | 1 | PKP1 |
Download the gene annotation in CSV format
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Apoptotic cleavage of cellular proteins | R-HSA-111465 | 7.73 |
| Apoptotic execution phase | R-HSA-75153 | 7.28 |
| Apoptotic cleavage of cell adhesion proteins | R-HSA-351906 | 9.52 |
| Programmed Cell Death | R-HSA-5357801 | 5.65 |
| Apoptosis | R-HSA-109581 | 5.68 |
| GO term | GO ID | GO IC |
|---|---|---|
| intermediate filament binding | GO:0019215 | 7.1 |
| signal transducer activity | GO:0004871 | 2.28 |
| structural molecule activity | GO:0005198 | 3.1 |
| macromolecular complex binding | GO:0044877 | 2.61 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| protein complex binding | GO:0032403 | 3.09 |
| lamin binding | GO:0005521 | 6.91 |
| structural constituent of epidermis | GO:0030280 | 7.66 |