Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.140 GeneticVariation 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
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.140 CausalMutation 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
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.140 GeneticVariation CLINVAR Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T). 27766311

2016
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.140 GeneticVariation 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
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.140 GeneticVariation CLINVAR Clinical features of the myasthenic syndrome arising from mutations in GMPPB. 27147698

2016
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.140 CausalMutation CLINVAR Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T). 27766311

2016
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.140 CausalMutation CLINVAR Clinical features of the myasthenic syndrome arising from mutations in GMPPB. 27147698

2016
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.140 GeneticVariation CLINVAR Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. 26133662

2015
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.140 CausalMutation CLINVAR GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation. 26310427

2015
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.140 GeneticVariation CLINVAR GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation. 26310427

2015
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.140 CausalMutation CLINVAR Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. 26133662

2015
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.140 CausalMutation CLINVAR Expanding the phenotype of GMPPB mutations. 25681410

2015
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.140 CausalMutation CLINVAR Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. 23768512

2013