GMPPB, GDP-mannose pyrophosphorylase B, 29925

N. diseases: 158; N. variants: 23
Disease: Multiple congenital anomalies ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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 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 Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy. 19901254 2009