GMPPB, GDP-mannose pyrophosphorylase B, 29925

N. diseases: 158; N. variants: 23
Disease: Muscular Dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.140 GeneticVariation disease BEFREE Mutations in GMPPB cause a wide spectrum of neuromuscular syndromes, including muscular dystrophies and congenital myasthenic syndrome. 31378432 2019
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		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
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		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
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		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
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.140 GeneticVariation disease CLINVAR Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T). 27766311 2016
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.140 GeneticVariation disease CLINVAR iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers. 27527004 2016
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.140 GeneticVariation disease CLINVAR Clinical features of the myasthenic syndrome arising from mutations in GMPPB. 27147698 2016
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.140 CausalMutation disease CLINVAR Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T). 27766311 2016
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.140 CausalMutation disease CLINVAR Clinical features of the myasthenic syndrome arising from mutations in GMPPB. 27147698 2016
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		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
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.140 GeneticVariation disease CLINVAR Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. 26133662 2015
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.140 CausalMutation disease CLINVAR GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation. 26310427 2015
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.140 GeneticVariation disease CLINVAR GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation. 26310427 2015
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.140 CausalMutation disease CLINVAR Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. 26133662 2015
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.140 GeneticVariation disease BEFREE Mutations in GMPPB have recently been reported to lead to the onset of muscular dystrophy dystroglycanopathy. 26133662 2015
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.140 CausalMutation disease CLINVAR Expanding the phenotype of GMPPB mutations. 25681410 2015
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		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
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.140 Biomarker disease HPO