GMPPB, GDP-mannose pyrophosphorylase B, 29925

N. diseases: 158; N. variants: 23
Disease: Congenital muscular dystrophy (disorder) ×
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