Disease Term Disease ID Gene Symbol Classification References Source
Proximal myopathy with focal depletion of mitochondria 521305 CHKB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Proximal Myopathy with Focal Depletion of Mitochondria C1833453 CHKB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26782016, 27169979 -