Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10290
Gene Symbol: SPEG
SPEG
CUI: C3645536
Disease: Autosomal Recessive Centronuclear Myopathy
Autosomal Recessive Centronuclear Myopathy 		0.300 GermlineCausalMutation ORPHANET SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. 25087613

2014