Epidermolysis bullosa dystrophica inversa

Disease Term Disease ID Gene Symbol Classification References Source
Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive C2673612 COL7A1 Causal Pathogenic evidence from ClinVar - ClinVar
MMP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant C2673611 COL7A1 Causal Pathogenic evidence from ClinVar - ClinVar
MMP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Epidermolysis bullosa inversa dystrophica C2673609 LAMC2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -