Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
AUTOSOMAL DOMINANT GENERALIZED EPIDERMOLYSIS BULLOSA SIMPLEX, INTERMEDIATE FORM	79399	KRT14	Unknown	20301543	Orphanet	Estrogen signaling pathway Staphylococcus aureus infection Type I hemidesmosome assembly +2 more
	79399	KRT5	Unknown	20301543	Orphanet	Type I hemidesmosome assembly Keratinization Formation of the cornified envelope
AUTOSOMAL DOMINANT GENERALIZED EPIDERMOLYSIS BULLOSA SIMPLEX, SEVERE FORM	79396	KRT14	Unknown	20301543	Orphanet	Estrogen signaling pathway Staphylococcus aureus infection Type I hemidesmosome assembly +2 more
	79396	KRT5	Unknown	20301543	Orphanet	Type I hemidesmosome assembly Keratinization Formation of the cornified envelope
EPIDERMOLYSIS BULLOSA	C0014527 MESH:D004820	EXPH5	Unknown	—	CTD, Disgenet	—
		ITGB4	Unknown	18348258	CTD, Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +10 more
		KRT14	Unknown	—	Disgenet	Estrogen signaling pathway Staphylococcus aureus infection Type I hemidesmosome assembly +2 more
EPIDERMOLYSIS BULLOSA SIMPLEX	C0079298 MONDO:0017610	CD151	Unknown	—	Disgenet	Assembly of collagen fibrils and other multimeric structures Type I hemidesmosome assembly
		DST	Unknown	—	Disgenet	Assembly of collagen fibrils and other multimeric structures Type I hemidesmosome assembly
		EXPH5	Unknown	—	Disgenet	—
		ITGB4	Unknown	12485428	Disgenet, GWAS catalog	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +10 more
		KLHL24	Unknown	—	Disgenet	—
EPIDERMOLYSIS BULLOSA SIMPLEX 1B, GENERALIZED INTERMEDIATE	C5561924 131900 MONDO:0007554	KLHL24	Unknown	—	Disgenet	—
		KRT14	Unknown	—	Disgenet, GenCC, HPO	Estrogen signaling pathway Staphylococcus aureus infection Type I hemidesmosome assembly +2 more
		KRT5	Unknown	—	Disgenet, GenCC	Type I hemidesmosome assembly Keratinization Formation of the cornified envelope
EPIDERMOLYSIS BULLOSA SIMPLEX 1D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE	C3715082	KRT5	Unknown	—	Disgenet	Type I hemidesmosome assembly Keratinization Formation of the cornified envelope
EPIDERMOLYSIS BULLOSA SIMPLEX 2E, WITH MIGRATORY CIRCINATE ERYTHEMA	609352 MONDO:0012258	KRT5	Unknown	12925204	GWAS catalog, HPO	Type I hemidesmosome assembly Keratinization Formation of the cornified envelope
EPIDERMOLYSIS BULLOSA SIMPLEX 2F, WITH MOTTLED PIGMENTATION	MONDO:0007556 131960	KRT14	Unknown	16601668 20301543	GWAS catalog	Estrogen signaling pathway Staphylococcus aureus infection Type I hemidesmosome assembly +2 more
EPIDERMOLYSIS BULLOSA SIMPLEX 2F, WITH MOTTLED PIGMENTATION	MONDO:0007556 131960	KRT5	Unknown	8799157	Disgenet, HPO	Type I hemidesmosome assembly Keratinization Formation of the cornified envelope
EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE	131950 MONDO:0007555	PLEC	Unknown	—	GenCC, HPO	Cytoskeleton in muscle cells Assembly of collagen fibrils and other multimeric structures Caspase-mediated cleavage of cytoskeletal proteins +1 more
EPIDERMOLYSIS BULLOSA SIMPLEX 5C, WITH PYLORIC ATRESIA	MONDO:0012807	ITGB4	Unknown	—	GenCC	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +10 more
EPIDERMOLYSIS BULLOSA SIMPLEX 5D, GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE	C4225309 616487 OMIM:616487	ARHGAP10	Unknown	—	Disgenet	Bacterial invasion of epithelial cells Rho GTPase cycle
		BCLAF1	Unknown	—	Disgenet	—
		DCUN1D2	Unknown	—	Disgenet	Neddylation
		FREM2	Unknown	—	Disgenet	ECM-receptor interaction
		GPR33	Unknown	—	Disgenet	—
		HRNR	Unknown	—	Disgenet	Neutrophil degranulation
		IDS	Unknown	—	Disgenet	Glycosaminoglycan degradation Metabolic pathways Lysosome +3 more
		PLEC	Unknown	—	CTD, Disgenet, HPO	Cytoskeleton in muscle cells Assembly of collagen fibrils and other multimeric structures Caspase-mediated cleavage of cytoskeletal proteins +1 more
		RP1L1	Unknown	—	Disgenet	—
		TMEM249	Unknown	—	Disgenet	—
EPIDERMOLYSIS BULLOSA SIMPLEX 6, GENERALIZED INTERMEDIATE, WITH OR WITHOUT CARDIOMYOPATHY	617294 C4310631 OMIM:617294	KLHL24	Unknown	—	CTD, Disgenet, HPO	—
EPIDERMOLYSIS BULLOSA SIMPLEX DUE TO BP230 DEFICIENCY	412181 C4750917	DST	Unknown	22113475	Disgenet, Orphanet	Assembly of collagen fibrils and other multimeric structures Type I hemidesmosome assembly
EPIDERMOLYSIS BULLOSA SIMPLEX DUE TO EXOPHILIN 5 DEFICIENCY	412189 C4750918	EXPH5	Unknown	23176819	Orphanet, Disgenet	—
EPIDERMOLYSIS BULLOSA SIMPLEX HERPETIFORMIS	C0079295	KRT14	Unknown	—	Disgenet	Estrogen signaling pathway Staphylococcus aureus infection Type I hemidesmosome assembly +2 more
EPIDERMOLYSIS BULLOSA SIMPLEX HERPETIFORMIS	C0079295	KRT5	Unknown	—	Disgenet	Type I hemidesmosome assembly Keratinization Formation of the cornified envelope
EPIDERMOLYSIS BULLOSA SIMPLEX WITH CIRCINATE MIGRATORY ERYTHEMA	158681	KRT5	Unknown	12925204	Orphanet	Type I hemidesmosome assembly Keratinization Formation of the cornified envelope
EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION	79397 C0432316	KRT14	Unknown	16601668 20301543	Disgenet, Orphanet	Estrogen signaling pathway Staphylococcus aureus infection Type I hemidesmosome assembly +2 more
EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY	257	PLEC	Unknown	20052759	Orphanet	Cytoskeleton in muscle cells Assembly of collagen fibrils and other multimeric structures Caspase-mediated cleavage of cytoskeletal proteins +1 more
EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA	158684 C2677349 MESH:C567408	ITGB4	Unknown	—	Disgenet, Orphanet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +10 more
EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA	158684 C2677349 MESH:C567408	PLEC	Unknown	20052759 20301336	CTD, Disgenet, Orphanet	Cytoskeleton in muscle cells Assembly of collagen fibrils and other multimeric structures Caspase-mediated cleavage of cytoskeletal proteins +1 more
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE	MESH:C563408	DST	Unknown	—	CTD	Assembly of collagen fibrils and other multimeric structures Type I hemidesmosome assembly
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE	MESH:C563408	KRT14	Unknown	—	CTD	Estrogen signaling pathway Staphylococcus aureus infection Type I hemidesmosome assembly +2 more
EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS	132000 C0268371 MESH:C562638 MONDO:0007557	COL7A1	Unknown	8618021	CTD, Disgenet, GWAS catalog, HPO	Protein digestion and absorption Collagen degradation Extracellular matrix organization +8 more
EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA	C1856934 MESH:C535377	ITGA6	Unknown	—	CTD, Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +17 more
		ITGB4	Unknown	18348258 7545057	CTD, Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +10 more
		PLEC	Unknown	—	CTD, Disgenet	Cytoskeleton in muscle cells Assembly of collagen fibrils and other multimeric structures Caspase-mediated cleavage of cytoskeletal proteins +1 more
LOCALIZED EPIDERMOLYSIS BULLOSA SIMPLEX	79400	KRT14	Unknown	20301543	Orphanet	Estrogen signaling pathway Staphylococcus aureus infection Type I hemidesmosome assembly +2 more
LOCALIZED EPIDERMOLYSIS BULLOSA SIMPLEX	79400	KRT5	Unknown	20301543	Orphanet	Type I hemidesmosome assembly Keratinization Formation of the cornified envelope
PLEC-RELATED INTERMEDIATE EPIDERMOLYSIS BULLOSA SIMPLEX WITHOUT EXTRACUTANEOUS INVOLVEMENT	79401	PLEC	Unknown	11851880	Orphanet	Cytoskeleton in muscle cells Assembly of collagen fibrils and other multimeric structures Caspase-mediated cleavage of cytoskeletal proteins +1 more
PLEC-RELATED MUSCULAR DYSTROPHY-EPIDERMOLYSIS BULLOSA SIMPLEX SPECTRUM DISORDER	MONDO:1060109	PLEC	Unknown	17389230 21109228 25209331 25318670 25556389 26019234 28447722 28824526 29352809 32605089 38912134	ClinGen, GWAS catalog	Cytoskeleton in muscle cells Assembly of collagen fibrils and other multimeric structures Caspase-mediated cleavage of cytoskeletal proteins +1 more

Epidermolysis bullosa

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