GMPPB, GDP-mannose pyrophosphorylase B, 29925

N. diseases: 158; N. variants: 23
Disease: Myasthenic Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0549225
Disease: Myasthenic Syndrome
Myasthenic Syndrome 		0.020 GeneticVariation disease BEFREE Increasingly, patients with GMPPB mutations are found to present with an overlapping LGMD/myasthenic syndrome. 28433477 2017
CUI: C0549225
Disease: Myasthenic Syndrome
Myasthenic Syndrome 		0.020 GeneticVariation disease BEFREE Clinical features of the myasthenic syndrome arising from mutations in GMPPB. 27147698 2016