Source: GENOMICS_ENGLAND

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 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1847759
Disease: MUSCULAR DYSTROPHY, CONGENITAL, 1C
MUSCULAR DYSTROPHY, CONGENITAL, 1C 		0.960 Biomarker GENOMICS_ENGLAND Mechanistic aspects of the formation of α-dystroglycan and therapeutic research for the treatment of α-dystroglycanopathy: A review. 27421908

2016
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1847759
Disease: MUSCULAR DYSTROPHY, CONGENITAL, 1C
MUSCULAR DYSTROPHY, CONGENITAL, 1C 		0.960 Biomarker GENOMICS_ENGLAND A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum. 20236121

2010
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1847759
Disease: MUSCULAR DYSTROPHY, CONGENITAL, 1C
MUSCULAR DYSTROPHY, CONGENITAL, 1C 		0.960 Biomarker GENOMICS_ENGLAND Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. 11592034

2001
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1847759
Disease: MUSCULAR DYSTROPHY, CONGENITAL, 1C
MUSCULAR DYSTROPHY, CONGENITAL, 1C 		0.960 Biomarker GENOMICS_ENGLAND Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. 11592034

2001
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1847759
Disease: MUSCULAR DYSTROPHY, CONGENITAL, 1C
MUSCULAR DYSTROPHY, CONGENITAL, 1C 		0.960 Biomarker GENOMICS_ENGLAND Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci. 11053680

2000
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.950 Biomarker GENOMICS_ENGLAND Mechanistic aspects of the formation of α-dystroglycan and therapeutic research for the treatment of α-dystroglycanopathy: A review. 27421908

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 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

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 Biomarker GENOMICS_ENGLAND Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci. 11053680

2000
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.800 Biomarker GENOMICS_ENGLAND

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C3150413
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 		0.600 Biomarker GENOMICS_ENGLAND Mechanistic aspects of the formation of α-dystroglycan and therapeutic research for the treatment of α-dystroglycanopathy: A review. 27421908

2016
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C3150413
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 		0.600 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C3150413
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 		0.600 Biomarker GENOMICS_ENGLAND A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum. 20236121

2010
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C3150413
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 		0.600 Biomarker GENOMICS_ENGLAND Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. 11592034

2001
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C3150413
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 		0.600 Biomarker GENOMICS_ENGLAND Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. 11592034

2001
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C3150413
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 		0.600 Biomarker GENOMICS_ENGLAND Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci. 11053680

2000
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		0.500 Biomarker GENOMICS_ENGLAND

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0036572
Disease: Seizures
Seizures 		0.400 Biomarker GENOMICS_ENGLAND Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. 11592034

2001