GMPPB, GDP-mannose pyrophosphorylase B, 29925

N. diseases: 158; N. variants: 23
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 ×
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: 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: 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: C3809221
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 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