GMPPB, GDP-mannose pyrophosphorylase B, 29925

N. diseases: 158; N. variants: 23
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064796834
rs1064796834
Entrez Id: 29925;63891
Gene Symbol: GMPPB;RNF123
GMPPB;RNF123
CUI: C3714932
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 		0.700 GeneticVariation UNIPROT
dbSNP: rs142336618
rs142336618
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C3714932
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 		0.800 GeneticVariation UNIPROT Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome. 28433477 2017
dbSNP: rs142336618
rs142336618
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C3714932
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 		0.800 GeneticVariation UNIPROT Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. 23768512 2013
dbSNP: rs142336618
rs142336618
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C3714932
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 		G 0.800 CausalMutation CLINVAR Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype. 25770200 2015
dbSNP: rs142336618
rs142336618
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C3714932
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 		G 0.800 CausalMutation CLINVAR Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. 23768512 2013
dbSNP: rs142336618
rs142336618
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C3714932
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 		G 0.800 CausalMutation CLINVAR GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation. 26310427 2015
dbSNP: rs142336618
rs142336618
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C3714932
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 		0.800 GeneticVariation UNIPROT Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations. 28478914 2017
dbSNP: rs142336618
rs142336618
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C3714932
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 		G 0.800 CausalMutation CLINVAR Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. 26133662 2015
dbSNP: rs142336618
rs142336618
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C3714932
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 		0.800 GeneticVariation UNIPROT GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation. 26310427 2015
dbSNP: rs142336618
rs142336618
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C3714932
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 		G 0.800 CausalMutation CLINVAR Expanding the phenotype of GMPPB mutations. 25681410 2015
dbSNP: rs142336618
rs142336618
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C3809216
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 		G 0.700 CausalMutation CLINVAR Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype. 25770200 2015
dbSNP: rs142336618
rs142336618
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C3809221
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 		G 0.700 CausalMutation CLINVAR Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. 23768512 2013
dbSNP: rs142336618
rs142336618
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0026850
Disease:
Muscular Dystrophy 		G 0.700 CausalMutation CLINVAR Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. 26133662 2015
dbSNP: rs142336618
rs142336618
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C3809221
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 		G 0.700 CausalMutation CLINVAR Expanding the phenotype of GMPPB mutations. 25681410 2015
dbSNP: rs142336618
rs142336618
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0026850
Disease:
Muscular Dystrophy 		G 0.700 CausalMutation CLINVAR Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy. 27874200 2017
dbSNP: rs142336618
rs142336618
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C3809216
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 		G 0.700 CausalMutation CLINVAR Expanding the phenotype of GMPPB mutations. 25681410 2015
dbSNP: rs142336618
rs142336618
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C3809221
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 		G 0.700 CausalMutation CLINVAR GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation. 26310427 2015
dbSNP: rs142336618
rs142336618
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C3809221
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 		G 0.700 CausalMutation CLINVAR Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. 26133662 2015
dbSNP: rs142336618
rs142336618
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0026850
Disease:
Muscular Dystrophy 		G 0.700 CausalMutation CLINVAR Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. 23768512 2013
dbSNP: rs142336618
rs142336618
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0026850
Disease:
Muscular Dystrophy 		G 0.700 CausalMutation CLINVAR Expanding the phenotype of GMPPB mutations. 25681410 2015
dbSNP: rs142336618
rs142336618
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C3809216
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 		G 0.700 CausalMutation CLINVAR Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. 26133662 2015
dbSNP: rs142336618
rs142336618
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0026850
Disease:
Muscular Dystrophy 		G 0.700 CausalMutation CLINVAR Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T). 27766311 2016
dbSNP: rs142336618
rs142336618
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C3809216
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 		G 0.700 CausalMutation CLINVAR GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation. 26310427 2015
dbSNP: rs142336618
rs142336618
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0026850
Disease:
Muscular Dystrophy 		G 0.700 CausalMutation CLINVAR Clinical features of the myasthenic syndrome arising from mutations in GMPPB. 27147698 2016
dbSNP: rs142336618
rs142336618
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0026850
Disease:
Muscular Dystrophy 		G 0.700 CausalMutation CLINVAR GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation. 26310427 2015