GMPPB, GDP-mannose pyrophosphorylase B, 29925

N. diseases: 158; N. variants: 23
Disease: Centronuclear myopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		0.010 GeneticVariation disease BEFREE A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmission. 31378432 2019