Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28937903
rs28937903
FKRP
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		A 0.700 CausalMutation CLINVAR Elevated serum creatine kinase and small cerebellum prompt diagnosis of congenital muscular dystrophy due to FKRP mutations. 23420653

2014
dbSNP: rs28937903
rs28937903
FKRP
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		A 0.700 CausalMutation CLINVAR Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies. 23894383

2013
dbSNP: rs28937903
rs28937903
FKRP
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		A 0.700 CausalMutation CLINVAR Zebrafish models for human FKRP muscular dystrophies. 19955119

2010
dbSNP: rs28937903
rs28937903
FKRP
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		A 0.700 CausalMutation CLINVAR Variable cardiac involvement in Tunisian siblings harboring FKRP gene mutations. 18671187

2008
dbSNP: rs28937903
rs28937903
FKRP
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		A 0.700 CausalMutation CLINVAR Brain MRI abnormalities in muscular dystrophy due to FKRP mutations. 16368217

2006
dbSNP: rs28937903
rs28937903
FKRP
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		A 0.700 CausalMutation CLINVAR Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells. 15574464

2005
dbSNP: rs28937903
rs28937903
FKRP
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		A 0.700 CausalMutation CLINVAR New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families. 14652796

2004