Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28937900
rs28937900
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		A 0.830 CausalMutation CLINVAR Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes. 23591631

2013
dbSNP: rs28937900
rs28937900
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		A 0.830 CausalMutation CLINVAR Mutations alter secretion of fukutin-related protein. 19900540

2010
dbSNP: rs28937900
rs28937900
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		A 0.830 CausalMutation CLINVAR Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study. 18639457

2008
dbSNP: rs28937900
rs28937900
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		A 0.830 CausalMutation CLINVAR The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations. 15580560

2005
dbSNP: rs28937900
rs28937900
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		A 0.830 CausalMutation CLINVAR Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells. 15574464

2005
dbSNP: rs28937900
rs28937900
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		A 0.830 CausalMutation CLINVAR Patients with the C826A change had the clinically less severe LGMD2I phenotype, suggesting that this is a less disruptive FKRP mutation than those found in MDC1C. 11741828

2001