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: rs28937901
rs28937901
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1846672
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.700 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
dbSNP: rs28937901
rs28937901
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1846672
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.700 GeneticVariation UNIPROT Limb-girdle muscular dystrophy type 2I is not rare in Taiwan. 23800702 2013
dbSNP: rs28937901
rs28937901
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1846672
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.700 GeneticVariation UNIPROT Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation. 14523375 2004
dbSNP: rs28937901
rs28937901
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1846672
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.700 GeneticVariation UNIPROT Phenotypic spectrum associated with mutations in the fukutin-related protein gene. 12666124 2003
dbSNP: rs28937901
rs28937901
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1846672
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.700 GeneticVariation UNIPROT Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum. 14647208 2003
dbSNP: rs28937901
rs28937901
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1846672
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.700 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