MTM1, myotubularin 1, 4534

N. diseases: 125; N. variants: 140
Disease: Neonatal Hypotonia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587783772
rs587783772
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C2267233
Disease:
Neonatal Hypotonia 		T 0.700 CausalMutation CLINVAR