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	COL7A1	Causal	—	Disgenet	Protein digestion and absorption Collagen degradation Extracellular matrix organization +8 more
		ITGA6	Causal	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +17 more
		KRT5	Causal	—	Disgenet	Type I hemidesmosome assembly Keratinization Formation of the cornified envelope
		LAMB3	Causal	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +11 more
		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 MESH:D016110 MONDO:0017610	KRT14	Causal	7526933	CTD, Disgenet, GWAS catalog	Estrogen signaling pathway Staphylococcus aureus infection Type I hemidesmosome assembly +2 more
		KRT5	Causal	—	CTD, Disgenet	Type I hemidesmosome assembly Keratinization Formation of the cornified envelope
		PLEC	Causal	11851880	Disgenet	Cytoskeleton in muscle cells Assembly of collagen fibrils and other multimeric structures Caspase-mediated cleavage of cytoskeletal proteins +1 more
		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 1A, GENERALIZED SEVERE	131760 MONDO:0007550	KRT14	Causal	—	ClinVar, GenCC, HPO	Estrogen signaling pathway Staphylococcus aureus infection Type I hemidesmosome assembly +2 more
EPIDERMOLYSIS BULLOSA SIMPLEX 1A, GENERALIZED SEVERE	131760 MONDO:0007550	KRT5	Causal	—	ClinVar, GenCC, HPO	Type I hemidesmosome assembly Keratinization Formation of the cornified envelope
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 1C, LOCALIZED	MONDO:0007551 131800	ITGB4	Causal	26817667	GWAS catalog	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +10 more
		KRT14	Causal	—	ClinVar, GenCC, HPO	Estrogen signaling pathway Staphylococcus aureus infection Type I hemidesmosome assembly +2 more
		KRT5	Causal	—	GenCC	Type I hemidesmosome assembly Keratinization Formation of the cornified envelope
EPIDERMOLYSIS BULLOSA SIMPLEX 1D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE	601001 C3715082 MONDO:0010976	KRT14	Causal	—	ClinVar, Disgenet, GenCC, HPO	Estrogen signaling pathway Staphylococcus aureus infection Type I hemidesmosome assembly +2 more
	601001 C3715082 MONDO:0010976	KRT5	Unknown	—	Disgenet	Type I hemidesmosome assembly Keratinization Formation of the cornified envelope
EPIDERMOLYSIS BULLOSA SIMPLEX 2A, GENERALIZED SEVERE	619555 C4016235 MONDO:0030489	KRT5	Causal	—	ClinVar, Disgenet, HPO	Type I hemidesmosome assembly Keratinization Formation of the cornified envelope
EPIDERMOLYSIS BULLOSA SIMPLEX 2B, GENERALIZED INTERMEDIATE	619588 C5562009 MONDO:0030525	KRT5	Causal	10234505 10383750 11407989 11408584 12655565 19267394 19616543 20060687 26432462 26743602 28576738 29334134 29932457 52517502 52520040 8799157	ClinVar, Disgenet, GWAS catalog, HPO	Type I hemidesmosome assembly Keratinization Formation of the cornified envelope
EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED	619594 C5562011 MONDO:0030527	KRT5	Causal	—	ClinVar, Disgenet, HPO	Type I hemidesmosome assembly Keratinization Formation of the cornified envelope
EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE	619599 C5562014 MONDO:0030535	KRT5	Causal	11408584 11973334 19267394 31302245 31312705 32884918 7534039	ClinVar, Disgenet, GWAS catalog, HPO	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 3, LOCALIZED OR GENERALIZED INTERMEDIATE, WITH BP230 DEFICIENCY	615425 C3809470 MONDO:0014180	DST	Causal	—	ClinVar, Disgenet, GenCC, HPO	Assembly of collagen fibrils and other multimeric structures Type I hemidesmosome assembly
EPIDERMOLYSIS BULLOSA SIMPLEX 4, LOCALIZED OR GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE	615028 C3554367 MONDO:0014014	EXPH5	Causal	23176819 27384765 32176379	CTD, ClinVar, Disgenet, HPO	—
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 5B, WITH MUSCULAR DYSTROPHY	226670 MONDO:0009181	PLEC	Causal	—	ClinVar, 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	612138 MONDO:0012807	PLEC	Causal	—	ClinVar, 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	612138 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 6, GENERALIZED, WITH SCARRING AND HAIR LOSS	MONDO:0015006	KLHL24	Causal	—	ClinVar, GenCC	—
EPIDERMOLYSIS BULLOSA SIMPLEX 7, WITH NEPHROPATHY AND DEAFNESS	609057 MONDO:0012190	CD151	Causal	15265795	ClinVar, GWAS catalog, HPO	Assembly of collagen fibrils and other multimeric structures Type I hemidesmosome assembly
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 DUE TO PLAKOPHILIN DEFICIENCY	MONDO:0011472	PKP1	Causal	22309335 9326952	ClinVar, GWAS catalog	Apoptotic cleavage of cell adhesion proteins Neutrophil degranulation Keratinization +1 more
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 MIGRATORY CIRCINATE ERYTHEMA	C1836284 MESH:C563730	KRT5	Causal	—	CTD, ClinVar, Disgenet	Type I hemidesmosome assembly Keratinization Formation of the cornified envelope
EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION	79397 C0432316 MESH:C535959	KRT5	Causal	20301543	CTD, ClinVar, Disgenet, Orphanet	Type I hemidesmosome assembly Keratinization Formation of the cornified envelope
EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION	79397 C0432316 MESH:C535959	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 NAIL DYSTROPHY	MONDO:0014661	PLEC	Causal	—	ClinVar	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 SIMPLEX, KOEBNER TYPE		KRT14	Causal	—	ClinVar	Estrogen signaling pathway Staphylococcus aureus infection Type I hemidesmosome assembly +2 more
EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE	C0432317 MESH:C535962	PLEC	Causal	—	CTD, ClinVar, Disgenet	Cytoskeleton in muscle cells Assembly of collagen fibrils and other multimeric structures Caspase-mediated cleavage of cytoskeletal proteins +1 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
TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN	131705 C1851573 MESH:C536979 MONDO:0007548	COL7A1	Causal	—	CTD, ClinVar, Disgenet, GenCC, HPO	Protein digestion and absorption Collagen degradation Extracellular matrix organization +8 more

Epidermolysis bullosa

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