×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
0.700
CausalMutation
disease
CLINVAR
Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.
27874200
2017
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
0.700
GeneticVariation
disease
CLINVAR
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.
28433477
2017
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
0.700
CausalMutation
disease
CLINVAR
Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.
28478914
2017
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
0.700
GeneticVariation
disease
CLINVAR
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).
27766311
2016
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
0.700
CausalMutation
disease
CLINVAR
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).
27766311
2016
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
0.700
CausalMutation
disease
CLINVAR
Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype.
25770200
2015
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
0.700
CausalMutation
disease
CLINVAR
Expanding the phenotype of GMPPB mutations.
25681410
2015
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
0.700
CausalMutation
disease
CLINVAR
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
26133662
2015
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
0.700
GeneticVariation
disease
CLINVAR
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
26133662
2015
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
0.700
CausalMutation
disease
CLINVAR
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
26310427
2015
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
0.700
Biomarker
disease
GENOMICS_ENGLAND
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.
25529582
2015
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
0.700
GeneticVariation
disease
CLINVAR
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
26310427
2015
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
0.700
CausalMutation
disease
CLINVAR
Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations.
24780531
2014
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
0.700
CausalMutation
disease
CLINVAR
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
23768512
2013
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
0.700
Biomarker
disease
GENOMICS_ENGLAND
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
23768512
2013
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
0.700
GeneticVariation
disease
UNIPROT
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
23768512
2013
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
0.700
GeneticVariation
disease
CLINVAR
Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies.
23894383
2013
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
0.700
GeneticVariation
disease
CLINVAR
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
23768512
2013
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
0.700
Biomarker
disease
CTD_human
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
0.200
Biomarker
disease
MGD
Degree of Cajal-Retzius Cell Mislocalization Correlates with the Severity of Structural Brain Defects in Mouse Models of Dystroglycanopathy.
26306834
2016
×
Entrez Id:
55624
Gene Symbol:
POMGNT1
POMGNT1
0.200
Biomarker
disease
MGD
Degree of Cajal-Retzius Cell Mislocalization Correlates with the Severity of Structural Brain Defects in Mouse Models of Dystroglycanopathy.
26306834
2016
×
Entrez Id:
55624
Gene Symbol:
POMGNT1
POMGNT1
0.200
Biomarker
disease
MGD
A phenotype survey of 36 mutant mouse strains with gene-targeted defects in glycosyltransferases or glycan-binding proteins.
23118208
2013
×
Entrez Id:
11041
Gene Symbol:
B4GAT1
B4GAT1
0.200
Biomarker
disease
MGD
Dystroglycan organizes axon guidance cue localization and axonal pathfinding.
23217742
2012
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
0.200
Biomarker
disease
MGD
Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies.
20675713
2010
×
Entrez Id:
2218
Gene Symbol:
FKTN
FKTN
0.200
Biomarker
disease
MGD
Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy.
19017726
2009