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 - (1.43, 2.30, 2.42, 11.35)
* Muscle-eye-brain disease - MDDGA14 (1.43, 2.30, 2.42, 11.35)
* Limb-Girdle, Muscular dystrophy, type 2T - MDDGC14 (1.43, 2.30, 2.42, 11.35)