Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
EPIDERMOLYSIS BULLOSA	C0014527	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
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
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 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
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 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 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 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 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 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 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, 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
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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