rs121908110, FKRP

N. diseases: 4
Disease: Walker-Warburg congenital muscular dystrophy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Walker-Warburg congenital muscular dystrophy
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
0.700 CausalMutation CLINVAR A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex. 17336067 2007