GMPPB, GDP-mannose pyrophosphorylase B, 29925

N. diseases: 158; N. variants: 23
Disease: Muscle eye brain disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		0.500 GermlineCausalMutation disease ORPHANET Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. 23768512 2013
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		0.500 Biomarker disease CTD_human