Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
AUTOSOMAL DOMINANT GENERALIZED EPIDERMOLYSIS BULLOSA SIMPLEX, INTERMEDIATE FORM	79399	KRT14	Unknown	20301543	Orphanet
	79399	KRT5	Unknown	20301543	Orphanet
AUTOSOMAL DOMINANT GENERALIZED EPIDERMOLYSIS BULLOSA SIMPLEX, SEVERE FORM	79396	KRT14	Unknown	20301543	Orphanet
	79396	KRT5	Unknown	20301543	Orphanet
EPIDERMOLYSIS BULLOSA	C0014527 MESH:D004820	COL7A1	Causal	—	Disgenet
		ITGA6	Causal	—	Disgenet
		KRT5	Causal	—	Disgenet
		LAMB3	Causal	—	Disgenet
		EXPH5	Unknown	—	CTD Disgenet
		ITGB4	Unknown	18348258	CTD Disgenet
		KRT14	Unknown	—	Disgenet
EPIDERMOLYSIS BULLOSA SIMPLEX	C0079298 MESH:D016110 MONDO:0017610	KRT14	Causal	7526933	CTD Disgenet GWAS catalog
		KRT5	Causal	—	CTD Disgenet
		PLEC	Causal	11851880	Disgenet
		CD151	Unknown	—	Disgenet
		DST	Unknown	—	Disgenet
		EXPH5	Unknown	—	Disgenet
		ITGB4	Unknown	12485428	Disgenet GWAS catalog
		KLHL24	Unknown	—	Disgenet
EPIDERMOLYSIS BULLOSA SIMPLEX 1A, GENERALIZED SEVERE	131760 MONDO:0007550	KRT14	Causal	—	ClinVar GenCC HPO
EPIDERMOLYSIS BULLOSA SIMPLEX 1A, GENERALIZED SEVERE	131760 MONDO:0007550	KRT5	Causal	—	ClinVar GenCC HPO
EPIDERMOLYSIS BULLOSA SIMPLEX 1B, GENERALIZED INTERMEDIATE	C5561924 131900 MONDO:0007554	KLHL24	Unknown	—	Disgenet
		KRT14	Unknown	—	Disgenet GenCC HPO
		KRT5	Unknown	—	Disgenet GenCC
EPIDERMOLYSIS BULLOSA SIMPLEX 1C, LOCALIZED	MONDO:0007551 131800	ITGB4	Causal	26817667	GWAS catalog
		KRT14	Causal	—	ClinVar GenCC HPO
		KRT5	Causal	—	GenCC
EPIDERMOLYSIS BULLOSA SIMPLEX 1D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE	601001 C3715082 MONDO:0010976	KRT14	Causal	—	ClinVar Disgenet GenCC HPO
	601001 C3715082 MONDO:0010976	KRT5	Unknown	—	Disgenet
EPIDERMOLYSIS BULLOSA SIMPLEX 2A, GENERALIZED SEVERE	619555 C4016235 MONDO:0030489	KRT5	Causal	—	ClinVar Disgenet HPO
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
EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED	619594 C5562011 MONDO:0030527	KRT5	Causal	—	ClinVar Disgenet HPO
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
EPIDERMOLYSIS BULLOSA SIMPLEX 2E, WITH MIGRATORY CIRCINATE ERYTHEMA	609352 MONDO:0012258	KRT5	Unknown	12925204	GWAS catalog HPO
EPIDERMOLYSIS BULLOSA SIMPLEX 2F, WITH MOTTLED PIGMENTATION	MONDO:0007556 131960	KRT14	Unknown	16601668 20301543	GWAS catalog
EPIDERMOLYSIS BULLOSA SIMPLEX 2F, WITH MOTTLED PIGMENTATION	MONDO:0007556 131960	KRT5	Unknown	8799157	Disgenet HPO
EPIDERMOLYSIS BULLOSA SIMPLEX 3, LOCALIZED OR GENERALIZED INTERMEDIATE, WITH BP230 DEFICIENCY	615425 C3809470 MONDO:0014180	DST	Causal	—	ClinVar Disgenet GenCC HPO
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
EPIDERMOLYSIS BULLOSA SIMPLEX 5B, WITH MUSCULAR DYSTROPHY	226670 MONDO:0009181	PLEC	Causal	—	ClinVar GenCC HPO
EPIDERMOLYSIS BULLOSA SIMPLEX 5C, WITH PYLORIC ATRESIA	612138 MONDO:0012807	PLEC	Causal	—	ClinVar GenCC HPO
EPIDERMOLYSIS BULLOSA SIMPLEX 5C, WITH PYLORIC ATRESIA	612138 MONDO:0012807	ITGB4	Unknown	—	GenCC
EPIDERMOLYSIS BULLOSA SIMPLEX 5D, GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE	C4225309 616487 OMIM:616487	ARHGAP10	Unknown	—	Disgenet
		BCLAF1	Unknown	—	Disgenet
		DCUN1D2	Unknown	—	Disgenet
		FREM2	Unknown	—	Disgenet
		GPR33	Unknown	—	Disgenet
		HRNR	Unknown	—	Disgenet
		IDS	Unknown	—	Disgenet
		PLEC	Unknown	—	CTD Disgenet HPO

Epidermolysis bullosa