Disease Term Disease ID Gene Symbol Classification References Source
Epidermolysa bullosa simplex and limb girdle muscular dystrophy C2931072 PLEC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8830774, 10652002, 15654962, 19945614, 20052759, 23289980, 28447722 -