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: rs142336618
rs142336618
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0699743
Disease:
Congenital muscular dystrophy (disorder) 		0.010 GeneticVariation BEFREE We observe that c.79G>C (p.D27H) is associated with a mild limb-girdle muscular dystrophy phenotype, whereas c.860G>A (p.R287Q) is associated with a relatively severe congenital muscular dystrophy typically involving brain development. 26310427 2015
dbSNP: rs202160208
rs202160208
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0699743
Disease:
Congenital muscular dystrophy (disorder) 		0.010 GeneticVariation BEFREE We observe that c.79G>C (p.D27H) is associated with a mild limb-girdle muscular dystrophy phenotype, whereas c.860G>A (p.R287Q) is associated with a relatively severe congenital muscular dystrophy typically involving brain development. 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 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 		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 		G 0.800 CausalMutation CLINVAR Expanding the phenotype of GMPPB mutations. 25681410 2015
dbSNP: rs142908436
rs142908436
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C3714932
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 		A 0.800 CausalMutation CLINVAR Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. 26133662 2015
dbSNP: rs199922550
rs199922550
Entrez Id: 29925;63891
Gene Symbol: GMPPB;RNF123
GMPPB;RNF123
CUI: C3714932
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 		T 0.800 GeneticVariation CLINVAR Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T). 27766311 2016
dbSNP: rs199922550
rs199922550
Entrez Id: 29925;63891
Gene Symbol: GMPPB;RNF123
GMPPB;RNF123
CUI: C3714932
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 		T 0.800 GeneticVariation CLINVAR GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation. 26310427 2015
dbSNP: rs199922550
rs199922550
Entrez Id: 29925;63891
Gene Symbol: GMPPB;RNF123
GMPPB;RNF123
CUI: C3714932
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 		T 0.800 CausalMutation CLINVAR
dbSNP: rs199922550
rs199922550
Entrez Id: 29925;63891
Gene Symbol: GMPPB;RNF123
GMPPB;RNF123
CUI: C3714932
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 		T 0.800 GeneticVariation CLINVAR Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. 23768512 2013
dbSNP: rs202160208
rs202160208
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C3714932
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 		T 0.800 CausalMutation CLINVAR Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T). 27766311 2016
dbSNP: rs202160208
rs202160208
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C3714932
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 		T 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: rs202160208
rs202160208
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C3714932
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 		T 0.800 CausalMutation CLINVAR Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. 26133662 2015
dbSNP: rs202160208
rs202160208
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C3809221
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 		T 0.800 CausalMutation CLINVAR Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy. 27874200 2017
dbSNP: rs202160208
rs202160208
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C3714932
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 		T 0.800 CausalMutation CLINVAR Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy. 27874200 2017
dbSNP: rs202160208
rs202160208
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C3809221
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 		T 0.800 CausalMutation CLINVAR Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T). 27766311 2016
dbSNP: rs202160208
rs202160208
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C3809221
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 		T 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: rs202160208
rs202160208
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C3809221
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 		T 0.800 CausalMutation CLINVAR Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. 26133662 2015
dbSNP: rs202160208
rs202160208
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C3714932
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 		T 0.800 CausalMutation CLINVAR Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations. 28478914 2017
dbSNP: rs202160208
rs202160208
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C3714932
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 		T 0.800 CausalMutation CLINVAR Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations. 24780531 2014
dbSNP: rs202160208
rs202160208
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C3809221
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 		T 0.800 CausalMutation CLINVAR Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations. 24780531 2014
dbSNP: rs202160208
rs202160208
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C3809221
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 		T 0.800 CausalMutation CLINVAR Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations. 28478914 2017
dbSNP: rs397509422
rs397509422
Entrez Id: 29925;63891
Gene Symbol: GMPPB;RNF123
GMPPB;RNF123
CUI: C3809216
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 		T 0.800 GeneticVariation CLINVAR Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. 23768512 2013