MTM1, myotubularin 1, 4534

N. diseases: 125; N. variants: 140
Disease: Neonatal Hypotonia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		0.110 GeneticVariation disease BEFREE An autosomal dominant form of CNM results from mutations in the gene encoding dynamin 2 (DNM2), and loss-of-function mutations in the gene encoding myotubularin (MTM1) result in X-linked CNM (XLCNM, also called myotubular myopathy), which promotes severe neonatal hypotonia and early death. 24569376 2014
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		0.110 CausalMutation disease CLINVAR