×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
0.140
GeneticVariation
disease
BEFREE
Mutations in GMPPB cause a wide spectrum of neuromuscular syndromes, including muscular dystrophies and congenital myasthenic syndrome.
31378432
2019
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
0.140
GeneticVariation
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
0.140
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
0.140
GeneticVariation
disease
BEFREE
Mutations in GMPPB gene have been reported in patients with early-onset disease ranging from severe congenital muscular dystrophies to limb-girdle muscular dystrophy (LGMD) with mental retardation.
28478914
2017
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
0.140
GeneticVariation
disease
CLINVAR
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).
27766311
2016
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
0.140
GeneticVariation
disease
CLINVAR
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
27527004
2016
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
0.140
GeneticVariation
disease
CLINVAR
Clinical features of the myasthenic syndrome arising from mutations in GMPPB.
27147698
2016
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
0.140
CausalMutation
disease
CLINVAR
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).
27766311
2016
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
0.140
CausalMutation
disease
CLINVAR
Clinical features of the myasthenic syndrome arising from mutations in GMPPB.
27147698
2016
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
0.140
GeneticVariation
disease
BEFREE
Mutations in GDP-mannose pyrophosphorylase B (GMPPB ), a catalyst for the formation of the sugar donor GDP-mannose, were recently identified as a cause of muscular dystrophy resulting from abnormal glycosylation of α-dystroglycan.
26310427
2015
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
0.140
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
0.140
CausalMutation
disease
CLINVAR
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
26310427
2015
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
0.140
GeneticVariation
disease
CLINVAR
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
26310427
2015
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
0.140
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
0.140
GeneticVariation
disease
BEFREE
Mutations in GMPPB have recently been reported to lead to the onset of muscular dystrophy dystroglycanopathy.
26133662
2015
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
0.140
CausalMutation
disease
CLINVAR
Expanding the phenotype of GMPPB mutations.
25681410
2015
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
0.140
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
0.140
Biomarker
disease
HPO