Junctional epidermolysis bullosa
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Junctional Epidermolysis Bullosa | C0079301 | COL17A1 | 10577906, 10951237 |
| ITGA3 | 23114595, 26719633 | ||
| ITGB4 | 7545057 | ||
| LAMA3 | 8618022, 12915477, 8530087 | ||
| LAMB3 | 9856855 | ||
| LAMC2 | 8012394, 16473856 | ||
| Adult junctional epidermolysis bullosa (disorder) | C0268374 | COL17A1 | 10652291, 12813757, 10577906, 24550734, 8669466, 9077475, 10636730, 19340010, 9199555, 21357940, 11406649, 10951237, 14614394, 16354180, 11912005, 9204958 |
| GALK1 | 12485428, 10484780 | ||
| ITGB4 | 10484780, 10792571, 12485428 | ||
| LAMA3 | 8618022, 27827380, 8530087 | ||
| LAMB3 | 16473856, 27220909, 17476356, 9856855, 22931927, 11023379, 23278291, 9767254 | ||
| LAMC2 | 26956061, 27696112, 24550734, 16473856, 8012394 | ||
| Late-onset junctional epidermolysis bullosa | C4304724, 79406 | COL17A1 | |
| Intermediate generalized junctional epidermolysis bullosa | 79402 | COL17A1 | |
| ITGB4 | |||
| LAMA3 | |||
| LAMB3 | |||
| LAMC2 | |||
| Severe generalized junctional epidermolysis bullosa | 79404 | LAMB3 | |
| LAMC2 | |||
| LAMA3 |