COL7A1
collagen type VII alpha 1 chain
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in9
Localized dystrophic epidermolysis bullosa, nails onlyORPHA:158676
→Localized dystrophic epidermolysis bullosa, acral formORPHA:158673
→Autosomal dominant generalized dystrophic epidermolysis bullosaORPHA:231568
→Dystrophic epidermolysis bullosa pruriginosaORPHA:89843
→Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate formORPHA:89842
→Recessive dystrophic epidermolysis bullosa inversaORPHA:79409
→Autosomal recessive generalized dystrophic epidermolysis bullosa, severe formORPHA:79408
→Self-improving dystrophic epidermolysis bullosaORPHA:79411
→Localized dystrophic epidermolysis bullosa, pretibial formORPHA:79410
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