Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1847759
Disease: MUSCULAR DYSTROPHY, CONGENITAL, 1C
MUSCULAR DYSTROPHY, CONGENITAL, 1C 		0.960 GeneticVariation CLINVAR

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1847759
Disease: MUSCULAR DYSTROPHY, CONGENITAL, 1C
MUSCULAR DYSTROPHY, CONGENITAL, 1C 		0.960 CausalMutation CLINVAR

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.950 CausalMutation CLINVAR Novel FKRP mutations in a Japanese MDC1C sibship clinically diagnosed with Fukuyama congenital muscular dystrophy. 28629604

2017
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.950 CausalMutation CLINVAR A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield. 28454995

2017
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.950 CausalMutation CLINVAR FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies. 27439679

2016
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.950 CausalMutation CLINVAR First Identification of Compound Heterozygous FKRP Mutations in a Korean Patient with Limb-Girdle Muscular Dystrophy. 26320847

2016
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.950 GeneticVariation CLINVAR FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies. 27439679

2016
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.950 CausalMutation CLINVAR A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing. 25987458

2015
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.950 GeneticVariation CLINVAR Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned. 26436962

2015
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.950 CausalMutation CLINVAR Elevated serum creatine kinase and small cerebellum prompt diagnosis of congenital muscular dystrophy due to FKRP mutations. 23420653

2014
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.950 CausalMutation CLINVAR Limb-girdle muscular dystrophy type 2I is not rare in Taiwan. 23800702

2013
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.950 CausalMutation CLINVAR Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies. 23894383

2013
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.950 CausalMutation CLINVAR Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes. 23591631

2013
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.950 GeneticVariation CLINVAR Eye and brain abnormalities in congenital muscular dystrophies caused by fukutin-related protein gene (FKRP) mutations. 24139536

2013
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.950 GeneticVariation CLINVAR Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I. 20961759

2011
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.950 CausalMutation CLINVAR Zebrafish models for human FKRP muscular dystrophies. 19955119

2010
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.950 CausalMutation CLINVAR Efficient identification of novel mutations in patients with limb girdle muscular dystrophy. 20623375

2010
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.950 CausalMutation CLINVAR Mutations alter secretion of fukutin-related protein. 19900540

2010
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.950 GeneticVariation CLINVAR Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies. 19155270

2009
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.950 GeneticVariation CLINVAR Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. 19299310

2009
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.950 GeneticVariation CLINVAR A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity. 18691338

2009
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.950 CausalMutation CLINVAR Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study. 18639457

2008
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.950 CausalMutation CLINVAR Variable cardiac involvement in Tunisian siblings harboring FKRP gene mutations. 18671187

2008
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.950 CausalMutation CLINVAR Diagnosis and etiology of congenital muscular dystrophy. 18160674

2008
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.950 GeneticVariation CLINVAR Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study. 18639457

2008