CAPN3, calpain 3, 825

N. diseases: 137; N. variants: 155
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Limb-girdle muscular dystrophy type 2A
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 18 146 1.000 strong 0.994 166 146 1995 2019