MTMR14, myotubularin related protein 14, 64419

N. diseases: 61; N. variants: 2
Disease: Congenital Structural Myopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0752282
Disease: Congenital Structural Myopathy
Congenital Structural Myopathy 		0.310 GeneticVariation disease LHGDN A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy. 17008356 2006
CUI: C0752282
Disease: Congenital Structural Myopathy
Congenital Structural Myopathy 		0.310 Biomarker disease CTD_human