Junctional epidermolysis bullosa
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| EPIDERMOLYSIS BULLOSA, JUNCTIONAL | ITGB4 | Unknown | CTD | |||
| LAMA3 | Unknown | CTD | ||||
| LAMB3 | Unknown | — | CTD | |||
| LAMC2 | Unknown | — | CTD | |||
| EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1A, INTERMEDIATE | LAMB3 | Unknown | — | HPO | ||
| EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1B, SEVERE | LAMA3 | Unknown | — | HPO | ||
| LAMB3 | Unknown | — | HPO | |||
| LAMC2 | Unknown | — | HPO | |||
| EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2A, INTERMEDIATE | LAMA3 | Causal | — | ClinVar, Disgenet, HPO | ||
| EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE | LAMA3 | Causal | — | ClinVar, Disgenet, HPO | ||
| EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2C, LARYNGOONYCHOCUTANEOUS | LAMA3 | Unknown | — | 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 | ||
| GALK1 | Unknown | — | Disgenet | |||
| EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA | GALK1 | Unknown | — | Disgenet | ||
| ITGA6 | Unknown | — | Disgenet | |||
| ITGB4 | Unknown | — | Disgenet, HPO | |||
| MYO6 | Unknown | — | Disgenet | |||
| PLEC | Unknown | — | 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 | |||
| EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT | COL17A1 | Unknown | — | Disgenet | ||
| EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE | COL17A1 | Unknown | CTD | |||
| LAMB3 | Unknown | — | CTD | |||
| LAMC2 | Unknown | CTD | ||||
| EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC | DSP | Unknown | — | CTD, Disgenet, HPO | ||
| JUP | Unknown | — | Disgenet | |||
| EPIDERMOLYSIS BULLOSA, PRETIBIAL | COL7A1 | Unknown | — | CTD, Disgenet | ||
| EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE | CSTA | Unknown | — | CTD, Disgenet | ||
| GENERALIZED DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA | COL7A1 | Causal | — | ClinVar, GenCC | ||
| GENERALIZED EPIDERMOLYSIS BULLOSA SIMPLEX | KRT14 | Unknown | — | Disgenet | ||
| KRT5 | Unknown | — | Disgenet | |||
| GENERALIZED JUNCTIONAL EPIDERMOLYSIS BULLOSA NON-HERLITZ TYPE | COL17A1 | Unknown | GWAS catalog | |||
| ITGB4 | Unknown | Orphanet | ||||
| LAMA3 | Unknown | GWAS catalog | ||||
| LAMB3 | Unknown | GenCC | ||||
| LAMC2 | Unknown | Disgenet | ||||
| ICHTHYOSIS BULLOSA OF SIEMENS | KRT2 | Causal | — | CTD, ClinVar, Disgenet, HPO | ||
| INHERITED EPIDERMOLYSIS BULLOSA | JUP | Unknown | — | GenCC, Disgenet | ||
| INTERMEDIATE EPIDERMOLYSIS BULLOSA SIMPLEX WITH CARDIOMYOPATHY | KLHL24 | Unknown | Disgenet, Orphanet | — | ||
| INTERMEDIATE GENERALIZED JUNCTIONAL EPIDERMOLYSIS BULLOSA | COL17A1 | Unknown | Orphanet | |||
| ITGB4 | Unknown | Orphanet | ||||
| LAMA3 | Unknown | Orphanet | ||||
| LAMB3 | Unknown | Orphanet | ||||
| LAMC2 | Unknown | Orphanet | ||||
| INTERSTITIAL LUNG DISEASE-NEPHROTIC SYNDROME-EPIDERMOLYSIS BULLOSA SYNDROME | ITGA3 | Unknown | Orphanet | |||
| JUNCTIONAL EPIDERMOLYSIS BULLOSA | COL17A1 | Causal | — | Disgenet | ||
| ITGA6 | Causal | — | Disgenet | |||
| ITGB4 | Causal | — | Disgenet | |||
| LAMA3 | Causal | — | Disgenet, GenCC | |||
| LAMB3 | Causal | — | Disgenet, GenCC | |||
| LAMC2 | Causal | — | Disgenet, GenCC | |||
| GALK1 | Unknown | — | Disgenet | |||
| ITGA3 | Unknown | Disgenet | ||||
| JUNCTIONAL EPIDERMOLYSIS BULLOSA GRAVIS OF HERLITZ |
|
LAMA3 | Causal | — | ClinVar | |
| LAMB3 | Causal | — | ClinVar | |||
| LAMC2 | Causal | — | ClinVar | |||
| JUNCTIONAL EPIDERMOLYSIS BULLOSA HERLITZ TYPE | LAMA3 | Unknown | — | GenCC | ||
| LAMB3 | Unknown | — | GenCC | |||
| LAMC2 | Unknown | — | GenCC | |||
| JUNCTIONAL EPIDERMOLYSIS BULLOSA MITIS | COL17A1 | Unknown | — | Disgenet | ||
| ITGB4 | Unknown | — | Disgenet | |||
| LAMA3 | Unknown | — | Disgenet | |||
| LAMB3 | Unknown | — | Disgenet | |||
| LAMC2 | Unknown | — | Disgenet | |||
| 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 | |||
| LATE-ONSET JUNCTIONAL EPIDERMOLYSIS BULLOSA | COL17A1 | Unknown | — | Disgenet, GenCC, Orphanet | ||
| LOCALIZED JUNCTIONAL EPIDERMOLYSIS BULLOSA | COL17A1 | Unknown | — | Disgenet, Orphanet | ||
| ITGB4 | Unknown | — | Disgenet, Orphanet | |||
| LOCALIZED JUNCTIONAL EPIDERMOLYSIS BULLOSA, NON-HERLITZ TYPE | COL17A1 | Unknown | — | GenCC | ||
| ITGB4 | Unknown | — | GenCC | |||
| LOCALIZED NON-HERLITZ JUNCTIONAL EPIDERMOLYSIS BULLOSA | COL17A1 | Unknown | — | Disgenet | ||
| ITGB4 | Unknown | — | Disgenet | |||
| SEVERE GENERALIZED JUNCTIONAL EPIDERMOLYSIS BULLOSA | LAMA3 | Unknown | Orphanet | |||
| LAMB3 | Unknown | Orphanet | ||||
| LAMC2 | Unknown | Orphanet |