DisGeNET - a database of gene-disease associations

MUSCULAR DYSTROPHY, CONGENITAL, 1C, C1847759

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs104894679

FKRP

0.700

GeneticVariation

UNIPROT

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

dbSNP:

rs104894679

FKRP

0.700

GeneticVariation

UNIPROT

Phenotypic spectrum associated with mutations in the fukutin-related protein gene.

12666124

2003

dbSNP:

rs104894679

FKRP

0.700

GeneticVariation

UNIPROT

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

dbSNP:

rs104894679

FKRP

0.700

GeneticVariation

UNIPROT

FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts.

12654965

2003

dbSNP:

rs104894679

FKRP

0.700

GeneticVariation

UNIPROT

A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex.

17336067

2007

dbSNP:

rs104894681

FKRP

0.800

GeneticVariation

CLINVAR

dbSNP:

rs104894681

FKRP

0.800

GeneticVariation

UNIPROT

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

dbSNP:

rs104894681

FKRP

0.800

GeneticVariation

UNIPROT

A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex.

17336067

2007

dbSNP:

rs104894681

FKRP

0.800

GeneticVariation

UNIPROT

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

dbSNP:

rs104894681

FKRP

0.800

GeneticVariation

UNIPROT

Phenotypic spectrum associated with mutations in the fukutin-related protein gene.

12666124

2003

dbSNP:

rs104894681

FKRP

0.800

GeneticVariation

UNIPROT

FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts.

12654965

2003

dbSNP:

rs104894681

FKRP

0.800

GeneticVariation

UNIPROT

Consensus statement on standard of care for congenital muscular dystrophies.

21078917

2010

dbSNP:

rs1057520772

FKRP

0.700

GeneticVariation

UNIPROT

dbSNP:

rs121908110

FKRP

0.700

GeneticVariation

UNIPROT

A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex.

17336067

2007

dbSNP:

rs121908110

FKRP

0.700

GeneticVariation

UNIPROT

FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts.

12654965

2003

dbSNP:

rs121908110

FKRP

0.700

GeneticVariation

UNIPROT

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

dbSNP:

rs121908110

FKRP

0.700

GeneticVariation

UNIPROT

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

dbSNP:

rs121908110

FKRP

0.700

GeneticVariation

UNIPROT

Phenotypic spectrum associated with mutations in the fukutin-related protein gene.

12666124

2003

dbSNP:

rs143793528

FKRP

0.700

GeneticVariation

UNIPROT

dbSNP:

rs1555739117

FKRP

0.700

GeneticVariation

UNIPROT

FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts.

12654965

2003

dbSNP:

rs1555739117

FKRP

0.700

GeneticVariation

UNIPROT

Phenotypic spectrum associated with mutations in the fukutin-related protein gene.

12666124

2003

dbSNP:

rs1555739117

FKRP

0.700

GeneticVariation

UNIPROT

A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex.

17336067

2007

dbSNP:

rs1555739117

FKRP

0.700

GeneticVariation

UNIPROT

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

dbSNP:

rs1555739117

FKRP

0.700

GeneticVariation

UNIPROT

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

dbSNP:

rs28937900

FKRP

0.710

GeneticVariation

BEFREE

Patients with the C826A change had the clinically less severe LGMD2I phenotype, suggesting that this is a less disruptive FKRP mutation than those found in MDC1C.

11741828

2001