Dystrophic epidermolysis bullosa

Disease Term Disease ID Gene Symbol Classification References Source
Autosomal dominant generalized dystrophic epidermolysis bullosa 231568 COL7A1 Causal Pathogenic evidence from ClinVar - ClinVar
Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form 89842 COL7A1 Causal Pathogenic evidence from ClinVar - ClinVar
Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form 79408 COL7A1 Causal Pathogenic evidence from ClinVar - ClinVar
MMP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Dystrophic epidermolysis bullosa inversa 79409 COL7A1 Causal Pathogenic evidence from ClinVar - ClinVar
Dystrophic epidermolysis bullosa pruriginosa 89843 COL7A1 Causal Pathogenic evidence from ClinVar - ClinVar
Hallopeau-Siemens Disease C0079474 COL7A1 Causal Pathogenic evidence from ClinVar 8513326, 8592061, 8618018, 8757758, 8900535, 9215684, 9326325, 9444387, 9668111, 9740253, 9804332, 10084325, 10620140, 10944088, 11167698, 11781296, 12485454, 12787275, 15888141, 16971478, 17495952, 18558993, 20598510, 22266148, 23616197 ClinVar
MMP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Localized dystrophic epidermolysis bullosa, acral form 158673 COL7A1 Causal Pathogenic evidence from ClinVar - ClinVar
Localized dystrophic epidermolysis bullosa, pretibial form 79410 COL7A1 Causal Pathogenic evidence from ClinVar - ClinVar
Self-improving dystrophic epidermolysis bullosa 79411 COL7A1 Causal Pathogenic evidence from ClinVar - ClinVar
Transient bullous dermolysis of the newborn C1851573 COL7A1 Causal Pathogenic evidence from ClinVar 9856844, 11781296, 23616197 ClinVar