Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs770711331
rs770711331
FKRP
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		T 0.700 CausalMutation CLINVAR A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity. 18691338

2009
dbSNP: rs770711331
rs770711331
FKRP
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		T 0.700 CausalMutation CLINVAR Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study. 18639457

2008
dbSNP: rs770711331
rs770711331
FKRP
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		T 0.700 CausalMutation CLINVAR Inflammation and response to steroid treatment in limb-girdle muscular dystrophy 2I. 17446099

2007
dbSNP: rs770711331
rs770711331
FKRP
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		T 0.700 CausalMutation CLINVAR Brain MRI abnormalities in muscular dystrophy due to FKRP mutations. 16368217

2006
dbSNP: rs770711331
rs770711331
FKRP
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		T 0.700 CausalMutation CLINVAR Mutation analysis in the FKRP gene provides an explanation for a rare cause of intrafamilial clinical variability in LGMD2I. 17113772

2006
dbSNP: rs770711331
rs770711331
FKRP
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		T 0.700 CausalMutation CLINVAR Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan. 15833426

2005