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: rs1555739333
rs1555739333
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1846672
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		A 0.700 GeneticVariation CLINVAR FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients. 15060126 2004