Junctional epidermolysis bullosa
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2A, INTERMEDIATE | LAMA3 | Causal | — | ClinVar, Disgenet, HPO | ||
| EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE | LAMA3 | Causal | — | ClinVar, Disgenet, HPO | ||
| EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3A, INTERMEDIATE | LAMC2 | Causal | — | ClinVar, Disgenet, HPO | ||
| EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE | LAMC2 | Causal | — | ClinVar, Disgenet, HPO | ||
| EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE | COL17A1 | Causal | ClinVar, GWAS catalog, HPO | |||
| EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE | ITGB4 | Causal | — | ClinVar, Disgenet, HPO | ||
| EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA | ITGA6 | Causal | ClinVar, Disgenet, GWAS catalog, HPO | |||
| EPIDERMOLYSIS BULLOSA, JUNCTIONAL 7, WITH INTERSTITIAL LUNG DISEASE AND NEPHROTIC SYNDROME | ITGA3 | Causal | CTD, ClinGen, ClinVar, GWAS catalog, HPO | |||
| GENERALIZED DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA | COL7A1 | Causal | — | ClinVar, GenCC | ||
| ICHTHYOSIS BULLOSA OF SIEMENS | KRT2 | Causal | — | CTD, ClinVar, Disgenet, HPO | ||
| JUNCTIONAL EPIDERMOLYSIS BULLOSA | COL17A1 | Causal | — | Disgenet | ||
| ITGA6 | Causal | — | Disgenet | |||
| ITGB4 | Causal | — | Disgenet | |||
| LAMA3 | Causal | — | Disgenet, GenCC | |||
| LAMB3 | Causal | — | Disgenet, GenCC | |||
| LAMC2 | Causal | — | Disgenet, GenCC | |||
| JUNCTIONAL EPIDERMOLYSIS BULLOSA GRAVIS OF HERLITZ |
|
LAMA3 | Causal | — | ClinVar | |
| LAMB3 | Causal | — | ClinVar | |||
| LAMC2 | Causal | — | ClinVar | |||
| JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA | ITGA6 | Causal | ClinVar, GenCC, Orphanet | |||
| ITGB4 | Causal | ClinVar, GenCC, Orphanet | ||||
| PLEC | Causal | — | ClinVar | |||
| JUNCTIONAL EPIDERMOLYSIS BULLOSA, NON-HERLITZ TYPE | COL17A1 | Causal | — | ClinVar, GenCC | ||
| ITGB4 | Causal | — | GenCC | |||
| LAMA3 | Causal | — | GenCC | |||
| LAMB3 | Causal | — | ClinVar, GenCC | |||
| LAMC2 | Causal | — | GenCC |