Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
EPIDERMOLYSIS BULLOSA, JUNCTIONAL	MESH:D016109	ITGB4	Unknown	7545057	CTD	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +10 more
		LAMA3	Unknown	12915477	CTD	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +11 more
		LAMB3	Unknown	—	CTD	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +11 more
		LAMC2	Unknown	—	CTD	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +11 more
EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1A, INTERMEDIATE	226650	LAMB3	Unknown	—	HPO	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +11 more
EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1B, SEVERE	226700	LAMA3	Unknown	—	HPO	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +11 more
		LAMB3	Unknown	—	HPO	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +11 more
		LAMC2	Unknown	—	HPO	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +11 more
EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2C, LARYNGOONYCHOCUTANEOUS	245660	LAMA3	Unknown	—	HPO	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +11 more
EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE	C5676956	GALK1	Unknown	—	Disgenet	Galactose metabolism Amino sugar and nucleotide sugar metabolism Metabolic pathways +3 more
EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA	C5676875 226730	GALK1	Unknown	—	Disgenet	Galactose metabolism Amino sugar and nucleotide sugar metabolism Metabolic pathways +3 more
		ITGA6	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +17 more
		ITGB4	Unknown	—	Disgenet, HPO	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +10 more
		MYO6	Unknown	—	Disgenet	Motor proteins Pathogenic Escherichia coli infection Salmonella infection +2 more
		PLEC	Unknown	—	Disgenet, HPO	Cytoskeleton in muscle cells Assembly of collagen fibrils and other multimeric structures Caspase-mediated cleavage of cytoskeletal proteins +1 more
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT	C2608084	COL17A1	Unknown	—	Disgenet	Protein digestion and absorption Collagen biosynthesis and modifying enzymes Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell +3 more
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE	MESH:C562639	COL17A1	Unknown	24550734	CTD	Protein digestion and absorption Collagen biosynthesis and modifying enzymes Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell +3 more
		LAMB3	Unknown	—	CTD	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +11 more
		LAMC2	Unknown	24550734	CTD	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +11 more
EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC	609638 C1864826 MESH:C535493	DSP	Unknown	—	CTD, Disgenet, HPO	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Apoptotic cleavage of cell adhesion proteins +3 more
EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC	609638 C1864826 MESH:C535493	JUP	Unknown	—	Disgenet	Cytoskeleton in muscle cells Pathways in cancer Transcriptional misregulation in cancer +8 more
EPIDERMOLYSIS BULLOSA, PRETIBIAL	C0432321 MESH:C535494	COL7A1	Unknown	—	CTD, Disgenet	Protein digestion and absorption Collagen degradation Extracellular matrix organization +8 more
EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE	C1842797 MESH:C564309	CSTA	Unknown	—	CTD, Disgenet	Formation of the cornified envelope
GENERALIZED EPIDERMOLYSIS BULLOSA SIMPLEX	C0079299	KRT14	Unknown	—	Disgenet	Estrogen signaling pathway Staphylococcus aureus infection Type I hemidesmosome assembly +2 more
GENERALIZED EPIDERMOLYSIS BULLOSA SIMPLEX	C0079299	KRT5	Unknown	—	Disgenet	Type I hemidesmosome assembly Keratinization Formation of the cornified envelope
GENERALIZED JUNCTIONAL EPIDERMOLYSIS BULLOSA NON-HERLITZ TYPE	MONDO:0019307	COL17A1	Unknown	20301304	GWAS catalog	Protein digestion and absorption Collagen biosynthesis and modifying enzymes Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell +3 more
		ITGB4	Unknown	10792571 16473856 20301304	Orphanet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +10 more
		LAMA3	Unknown	20301304	GWAS catalog	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +11 more
		LAMB3	Unknown	20301304	GenCC	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +11 more
		LAMC2	Unknown	20301304	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +11 more
INHERITED EPIDERMOLYSIS BULLOSA	C1274224 MONDO:0019276	JUP	Unknown	—	Disgenet, GenCC	Cytoskeleton in muscle cells Pathways in cancer Transcriptional misregulation in cancer +8 more
INTERMEDIATE EPIDERMOLYSIS BULLOSA SIMPLEX WITH CARDIOMYOPATHY	508529 C5555869	KLHL24	Unknown	27798626 27889062 28532758 29574966	Disgenet, Orphanet	—
INTERMEDIATE GENERALIZED JUNCTIONAL EPIDERMOLYSIS BULLOSA	79402	COL17A1	Unknown	20301304	Orphanet	Protein digestion and absorption Collagen biosynthesis and modifying enzymes Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell +3 more
		ITGB4	Unknown	10792571 16473856 20301304	Orphanet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +10 more
		LAMA3	Unknown	20301304	Orphanet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +11 more
		LAMB3	Unknown	20301304	Orphanet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +11 more
		LAMC2	Unknown	20301304	Orphanet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +11 more
INTERSTITIAL LUNG DISEASE-NEPHROTIC SYNDROME-EPIDERMOLYSIS BULLOSA SYNDROME	306504	ITGA3	Unknown	22512183	Orphanet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +13 more
JUNCTIONAL EPIDERMOLYSIS BULLOSA	C0079301	GALK1	Unknown	—	Disgenet	Galactose metabolism Amino sugar and nucleotide sugar metabolism Metabolic pathways +3 more
JUNCTIONAL EPIDERMOLYSIS BULLOSA	C0079301	ITGA3	Unknown	23114595 26719633 27717396 22512483 26854491	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +13 more
JUNCTIONAL EPIDERMOLYSIS BULLOSA HERLITZ TYPE	MONDO:0009182	LAMA3	Unknown	—	GenCC	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +11 more
		LAMB3	Unknown	—	GenCC	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +11 more
		LAMC2	Unknown	—	GenCC	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +11 more
JUNCTIONAL EPIDERMOLYSIS BULLOSA MITIS	C0432326	COL17A1	Unknown	—	Disgenet	Protein digestion and absorption Collagen biosynthesis and modifying enzymes Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell +3 more
		ITGB4	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +10 more
		LAMA3	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +11 more
		LAMB3	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +11 more
		LAMC2	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +11 more
LATE-ONSET JUNCTIONAL EPIDERMOLYSIS BULLOSA	79406 C4304724 MONDO:0019309	COL17A1	Unknown	—	Disgenet, GenCC, Orphanet	Protein digestion and absorption Collagen biosynthesis and modifying enzymes Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell +3 more
LOCALIZED JUNCTIONAL EPIDERMOLYSIS BULLOSA	251393 C0474889	COL17A1	Unknown	—	Disgenet, Orphanet	Protein digestion and absorption Collagen biosynthesis and modifying enzymes Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell +3 more
LOCALIZED JUNCTIONAL EPIDERMOLYSIS BULLOSA	251393 C0474889	ITGB4	Unknown	—	Disgenet, Orphanet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +10 more
LOCALIZED JUNCTIONAL EPIDERMOLYSIS BULLOSA, NON-HERLITZ TYPE	MONDO:0016673	COL17A1	Unknown	—	GenCC	Protein digestion and absorption Collagen biosynthesis and modifying enzymes Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell +3 more
	MONDO:0016673	ITGB4	Unknown	—	GenCC	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +10 more
LOCALIZED NON-HERLITZ JUNCTIONAL EPIDERMOLYSIS BULLOSA	C5700116	COL17A1	Unknown	—	Disgenet	Protein digestion and absorption Collagen biosynthesis and modifying enzymes Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell +3 more
LOCALIZED NON-HERLITZ JUNCTIONAL EPIDERMOLYSIS BULLOSA	C5700116	ITGB4	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +10 more
SEVERE GENERALIZED JUNCTIONAL EPIDERMOLYSIS BULLOSA	79404	LAMA3	Unknown	20301304	Orphanet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +11 more
		LAMB3	Unknown	20301304	Orphanet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +11 more
		LAMC2	Unknown	20301304	Orphanet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +11 more

Junctional epidermolysis bullosa

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