Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
EPIDERMOLYSIS BULLOSA, JUNCTIONAL	MESH:D016109	ITGB4	Unknown	7545057	CTD
		LAMA3	Unknown	12915477	CTD
		LAMB3	Unknown	—	CTD
		LAMC2	Unknown	—	CTD
EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1A, INTERMEDIATE	226650	LAMB3	Unknown	—	HPO
EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1B, SEVERE	226700	LAMA3	Unknown	—	HPO
		LAMB3	Unknown	—	HPO
		LAMC2	Unknown	—	HPO
EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2A, INTERMEDIATE	619783 C5676936 MONDO:0030746	LAMA3	Causal	—	ClinVar Disgenet HPO
EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE	619784 C5676937 MONDO:0030747	LAMA3	Causal	—	ClinVar Disgenet HPO
EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2C, LARYNGOONYCHOCUTANEOUS	245660	LAMA3	Unknown	—	HPO
EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3A, INTERMEDIATE	619785 C5676938 MONDO:0030748	LAMC2	Causal	—	ClinVar Disgenet HPO
EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE	619786 C5676939 MONDO:0030749	LAMC2	Causal	—	ClinVar Disgenet HPO
EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE	619787 MONDO:0030750	COL17A1	Causal	7550320 30761300	ClinVar GWAS catalog HPO
EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE	619816 C5676956 MONDO:0030768	ITGB4	Causal	—	ClinVar Disgenet HPO
EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE	619816 C5676956 MONDO:0030768	GALK1	Unknown	—	Disgenet
EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA	C5676875 226730	GALK1	Unknown	—	Disgenet
		ITGA6	Unknown	—	Disgenet
		ITGB4	Unknown	—	Disgenet HPO
		MYO6	Unknown	—	Disgenet
		PLEC	Unknown	—	Disgenet HPO
EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA	619817 C5676957 MONDO:0859233	ITGA6	Causal	9185503	ClinVar Disgenet GWAS catalog HPO
EPIDERMOLYSIS BULLOSA, JUNCTIONAL 7, WITH INTERSTITIAL LUNG DISEASE AND NEPHROTIC SYNDROME	614748 MONDO:0013881 OMIM:614748	ITGA3	Causal	22512483	CTD ClinGen ClinVar GWAS catalog HPO
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT	C2608084	COL17A1	Unknown	—	Disgenet
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE	MESH:C562639	COL17A1	Unknown	24550734	CTD
		LAMB3	Unknown	—	CTD
		LAMC2	Unknown	24550734	CTD
EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC	609638 C1864826 MESH:C535493	DSP	Unknown	—	CTD Disgenet HPO
EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC	609638 C1864826 MESH:C535493	JUP	Unknown	—	Disgenet
EPIDERMOLYSIS BULLOSA, PRETIBIAL	C0432321 MESH:C535494	COL7A1	Unknown	—	CTD Disgenet
EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE	C1842797 MESH:C564309	CSTA	Unknown	—	CTD Disgenet
GENERALIZED DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA	MONDO:0007549	COL7A1	Causal	—	ClinVar GenCC
GENERALIZED EPIDERMOLYSIS BULLOSA SIMPLEX	C0079299	KRT14	Unknown	—	Disgenet
GENERALIZED EPIDERMOLYSIS BULLOSA SIMPLEX	C0079299	KRT5	Unknown	—	Disgenet
GENERALIZED JUNCTIONAL EPIDERMOLYSIS BULLOSA NON-HERLITZ TYPE	MONDO:0019307	COL17A1	Unknown	20301304	GWAS catalog
		ITGB4	Unknown	10792571 16473856 20301304	Orphanet
		LAMA3	Unknown	20301304	GWAS catalog
		LAMB3	Unknown	20301304	GenCC
		LAMC2	Unknown	20301304	Disgenet
ICHTHYOSIS BULLOSA OF SIEMENS	146800 C0432306 MESH:D053560	KRT2	Causal	—	CTD ClinVar Disgenet HPO
INHERITED EPIDERMOLYSIS BULLOSA	MONDO:0019276 C1274224	JUP	Unknown	—	GenCC
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
		ITGB4	Unknown	10792571 16473856 20301304	Orphanet
		LAMA3	Unknown	20301304	Orphanet
		LAMB3	Unknown	20301304	Orphanet
		LAMC2	Unknown	20301304	Orphanet
INTERSTITIAL LUNG DISEASE-NEPHROTIC SYNDROME-EPIDERMOLYSIS BULLOSA SYNDROME	306504	ITGA3	Unknown	22512183	Orphanet
JUNCTIONAL EPIDERMOLYSIS BULLOSA	C0079301	COL17A1	Causal	—	Disgenet

Junctional epidermolysis bullosa