Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 1674
Gene Symbol: DES
DES 		desmin 0.460 0.846 8.8E-03
CUI: C3275417
Disease: Ragged-red muscle fibers
Ragged-red muscle fibers 		phenotype 0.100 None 0 1