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: rs397509422
rs397509422
Entrez Id: 29925;63891
Gene Symbol: GMPPB;RNF123
GMPPB;RNF123
CUI: C3809221
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 		T 0.700 GeneticVariation CLINVAR Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. 26133662 2015
dbSNP: rs397509422
rs397509422
Entrez Id: 29925;63891
Gene Symbol: GMPPB;RNF123
GMPPB;RNF123
CUI: C3809221
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 		T 0.700 GeneticVariation CLINVAR Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. 23768512 2013
dbSNP: rs397509422
rs397509422
Entrez Id: 29925;63891
Gene Symbol: GMPPB;RNF123
GMPPB;RNF123
CUI: C3809221
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 		T 0.700 GeneticVariation CLINVAR Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies. 23894383 2013