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: rs748087383
rs748087383
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1846672
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		A 0.700 CausalMutation CLINVAR Novel FKRP mutations in a Japanese MDC1C sibship clinically diagnosed with Fukuyama congenital muscular dystrophy. 28629604 2017
dbSNP: rs748087383
rs748087383
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1846672
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		A 0.700 CausalMutation CLINVAR First Identification of Compound Heterozygous FKRP Mutations in a Korean Patient with Limb-Girdle Muscular Dystrophy. 26320847 2016
dbSNP: rs748087383
rs748087383
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1846672
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		A 0.700 CausalMutation CLINVAR Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan. 15833426 2005