FKRP, fukutin related protein, 79147

N. diseases: 248; N. variants: 71
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1191737604
rs1191737604
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1846672
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		GC 0.700 GeneticVariation CLINVAR Eye and brain abnormalities in congenital muscular dystrophies caused by fukutin-related protein gene (FKRP) mutations. 24139536 2013