rs768606230, FKRP

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
0.800 GeneticVariation UNIPROT Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. 30345904 2018
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
0.800 GeneticVariation UNIPROT Limb-girdle muscular dystrophy type 2I is not rare in Taiwan. 23800702 2013
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
0.800 GeneticVariation CLINVAR High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark. 16634037 2006
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
0.800 GeneticVariation CLINVAR Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I. 16344347 2005
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
0.800 GeneticVariation UNIPROT Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation. 14523375 2004
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
0.800 GeneticVariation CLINVAR Phenotypic spectrum associated with mutations in the fukutin-related protein gene. 12666124 2003
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
0.800 GeneticVariation UNIPROT Phenotypic spectrum associated with mutations in the fukutin-related protein gene. 12666124 2003
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
0.800 GeneticVariation UNIPROT Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum. 14647208 2003
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
0.800 GeneticVariation UNIPROT Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. 11741828 2001