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: rs202160208
rs202160208
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0002418
Disease:
Amblyopia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs397509426
rs397509426
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0002418
Disease:
Amblyopia 		A 0.700 CausalMutation CLINVAR
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: rs1559697515
rs1559697515
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0241005
Disease:
Creatine phosphokinase serum increased 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs202160208
rs202160208
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0454644
Disease:
Delayed speech and language development 		T 0.700 CausalMutation CLINVAR
dbSNP: rs397509426
rs397509426
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0454644
Disease:
Delayed speech and language development 		A 0.700 CausalMutation CLINVAR
dbSNP: rs202160208
rs202160208
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0424503
Disease:
Dysmorphic facies 		T 0.700 CausalMutation CLINVAR
dbSNP: rs397509426
rs397509426
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0424503
Disease:
Dysmorphic facies 		A 0.700 CausalMutation CLINVAR
dbSNP: rs202160208
rs202160208
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0014877
Disease:
Esotropia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs397509426
rs397509426
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0014877
Disease:
Esotropia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs397509425
rs397509425
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 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: rs397509425
rs397509425
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Expanding the phenotype of GMPPB mutations. 25681410 2015
dbSNP: rs397509425
rs397509425
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype. 25770200 2015
dbSNP: rs397509425
rs397509425
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. 26133662 2015
dbSNP: rs397509425
rs397509425
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy. 19901254 2009
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: 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: 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: 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: 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
dbSNP: rs142908436
rs142908436
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0026850
Disease:
Muscular Dystrophy 		A 0.700 GeneticVariation CLINVAR Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T). 27766311 2016
dbSNP: rs142908436
rs142908436
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0026850
Disease:
Muscular Dystrophy 		A 0.700 GeneticVariation CLINVAR Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy. 27874200 2017