Disease Term Disease ID Gene Symbol Classification References Source
Epidermolysis bullosa simplex with pyloric atresia 158684 ITGB4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PLEC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Epidermolysis Bullosa Simplex With Pyloric Atresia C2677349 ITGB4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PLEC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8830774, 10652002, 15654962, 19945614, 20052759, 23289980 -