Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894692
rs104894692
FKRP
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		A 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: rs104894692
rs104894692
FKRP
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		A 0.700 CausalMutation CLINVAR High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark. 16634037

2006
dbSNP: rs104894692
rs104894692
FKRP
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		A 0.700 CausalMutation CLINVAR Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations. 16476814

2006
dbSNP: rs104894692
rs104894692
FKRP
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		A 0.700 CausalMutation CLINVAR Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. 15121789

2004
dbSNP: rs104894692
rs104894692
FKRP
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		A 0.700 CausalMutation CLINVAR Phenotypic spectrum associated with mutations in the fukutin-related protein gene. 12666124

2003