Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
GMPPB
GDP-mannose pyrophosphorylase B




3p21.31
* Congenital Myasthenic syndrome related to GMPPB - (1.40, 2.31, 2.38, 11.32)
* Muscle-eye-brain disease - MDDGA14 (1.40, 2.31, 2.38, 11.32)
* Limb-Girdle, Muscular dystrophy, type 2T - MDDGC14 (1.40, 2.31, 2.38, 11.32)