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: rs28937903
rs28937903
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1846672
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		A 0.700 CausalMutation CLINVAR A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield. 28454995 2017
dbSNP: rs28937903
rs28937903
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1846672
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		A 0.700 CausalMutation CLINVAR Elevated serum creatine kinase and small cerebellum prompt diagnosis of congenital muscular dystrophy due to FKRP mutations. 23420653 2014
dbSNP: rs28937903
rs28937903
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1846672
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		A 0.700 CausalMutation CLINVAR Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies. 23894383 2013
dbSNP: rs28937903
rs28937903
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1846672
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		A 0.700 CausalMutation CLINVAR Zebrafish models for human FKRP muscular dystrophies. 19955119 2010
dbSNP: rs28937903
rs28937903
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1846672
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		A 0.700 CausalMutation CLINVAR Variable cardiac involvement in Tunisian siblings harboring FKRP gene mutations. 18671187 2008
dbSNP: rs28937903
rs28937903
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1846672
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		A 0.700 CausalMutation CLINVAR Brain MRI abnormalities in muscular dystrophy due to FKRP mutations. 16368217 2006
dbSNP: rs28937903
rs28937903
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1846672
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		A 0.700 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: rs28937903
rs28937903
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1846672
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		A 0.700 CausalMutation CLINVAR New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families. 14652796 2004