FKRP, fukutin related protein, 79147

N. diseases: 248; N. variants: 71
Disease: Walker-Warburg congenital muscular dystrophy ×
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.
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 21 43 0.800 strong 1.000 50 18 2001 2018