Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
ACRAL DYSTROPHIC EPIDERMOLYSIS BULLOSA	MONDO:0015552	COL7A1	Unknown	—	GenCC	Protein digestion and absorption Collagen degradation Extracellular matrix organization +8 more
AUTOSOMAL DOMINANT GENERALIZED DYSTROPHIC EPIDERMOLYSIS BULLOSA	231568 C5679846	COL7A1	Unknown	—	Orphanet, Disgenet	Protein digestion and absorption Collagen degradation Extracellular matrix organization +8 more
AUTOSOMAL RECESSIVE GENERALIZED DYSTROPHIC EPIDERMOLYSIS BULLOSA, INTERMEDIATE FORM	89842	COL7A1	Unknown	—	Orphanet	Protein digestion and absorption Collagen degradation Extracellular matrix organization +8 more
AUTOSOMAL RECESSIVE GENERALIZED DYSTROPHIC EPIDERMOLYSIS BULLOSA, SEVERE FORM	79408	COL7A1	Unknown	—	Orphanet	Protein digestion and absorption Collagen degradation Extracellular matrix organization +8 more
	79408	MMP1	Unknown	—	Orphanet	PPAR signaling pathway IL-17 signaling pathway Relaxin signaling pathway +11 more
DYSTROPHIC EPIDERMOLYSIS BULLOSA INVERSE TYPE	C1275113	COL7A1	Unknown	—	Disgenet	Protein digestion and absorption Collagen degradation Extracellular matrix organization +8 more
DYSTROPHIC EPIDERMOLYSIS BULLOSA NAILS ONLY	C4302547	COL7A1	Unknown	—	Disgenet	Protein digestion and absorption Collagen degradation Extracellular matrix organization +8 more
DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA	89843 MONDO:0011398	COL7A1	Unknown	10383749	GWAS catalog, Orphanet	Protein digestion and absorption Collagen degradation Extracellular matrix organization +8 more
DYSTROPHIC EPIDERMOLYSIS BULLOSA, NAILS ONLY	MONDO:0015553	COL7A1	Unknown	—	GenCC	Protein digestion and absorption Collagen degradation Extracellular matrix organization +8 more
EPIDERMOLYSIS BULLOSA DYSTROPHICA	C0079294 MESH:D016108 MONDO:0006543	COL7A1	Causal	32947957	CTD, ClinVar, Disgenet	Protein digestion and absorption Collagen degradation Extracellular matrix organization +8 more
EPIDERMOLYSIS BULLOSA DYSTROPHICA	C0079294 MESH:D016108 MONDO:0006543	MMP1	Unknown	—	Disgenet	PPAR signaling pathway IL-17 signaling pathway Relaxin signaling pathway +11 more
EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE	C2673612	COL7A1	Causal	—	Disgenet	Protein digestion and absorption Collagen degradation Extracellular matrix organization +8 more
EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT	131750	COL7A1	Unknown	—	HPO	Protein digestion and absorption Collagen degradation Extracellular matrix organization +8 more
EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE	226600	COL7A1	Unknown	—	HPO	Protein digestion and absorption Collagen degradation Extracellular matrix organization +8 more
EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, LOCALISATA VARIANT	C2673611	COL7A1	Causal	—	Disgenet	Protein digestion and absorption Collagen degradation Extracellular matrix organization +8 more
EPIDERMOLYSIS BULLOSA DYSTROPHICA, PASINI TYPE	MESH:C535956	COL7A1	Unknown	—	CTD	Protein digestion and absorption Collagen degradation Extracellular matrix organization +8 more
EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL	131850	COL7A1	Unknown	—	HPO	Protein digestion and absorption Collagen degradation Extracellular matrix organization +8 more
EPIDERMOLYSIS BULLOSA PRURIGINOSA	604129 C1275114 MESH:C563192	COL7A1	Causal	—	CTD, ClinVar, Disgenet, HPO	Protein digestion and absorption Collagen degradation Extracellular matrix organization +8 more
LOCALIZED DYSTROPHIC EPIDERMOLYSIS BULLOSA, ACRAL FORM	158673	COL7A1	Unknown	—	Orphanet	Protein digestion and absorption Collagen degradation Extracellular matrix organization +8 more
LOCALIZED DYSTROPHIC EPIDERMOLYSIS BULLOSA, NAILS ONLY	158676	COL7A1	Unknown	—	Orphanet	Protein digestion and absorption Collagen degradation Extracellular matrix organization +8 more
LOCALIZED DYSTROPHIC EPIDERMOLYSIS BULLOSA, PRETIBIAL FORM	79410	COL7A1	Unknown	—	Orphanet	Protein digestion and absorption Collagen degradation Extracellular matrix organization +8 more
PRETIBIAL DYSTROPHIC EPIDERMOLYSIS BULLOSA	MONDO:0007552	COL7A1	Causal	—	ClinVar, GenCC	Protein digestion and absorption Collagen degradation Extracellular matrix organization +8 more
RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA	MONDO:0009179	COL7A1	Causal	—	ClinGen, ClinVar, GenCC	Protein digestion and absorption Collagen degradation Extracellular matrix organization +8 more
RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA INVERSA	79409 MONDO:0019310	COL7A1	Unknown	—	GenCC, Orphanet	Protein digestion and absorption Collagen degradation Extracellular matrix organization +8 more
RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA NON-HALLOPEAU SIEMENS TYPE	C4511044	COL7A1	Unknown	—	Disgenet	Protein digestion and absorption Collagen degradation Extracellular matrix organization +8 more
RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA-GENERALIZED OTHER	MONDO:0019522	COL7A1	Unknown	—	GenCC	Protein digestion and absorption Collagen degradation Extracellular matrix organization +8 more
SELF-IMPROVING DYSTROPHIC EPIDERMOLYSIS BULLOSA	79411	COL7A1	Unknown	—	Orphanet	Protein digestion and absorption Collagen degradation Extracellular matrix organization +8 more
SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA	C4510043	COL7A1	Unknown	32084423 11781296 27537055	Disgenet	Protein digestion and absorption Collagen degradation Extracellular matrix organization +8 more

Dystrophic epidermolysis bullosa

Bookmark This Disease