MTMR1, myotubularin related protein 1, 8776

N. diseases: 5; N. variants: 0
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 29 140 0.020 None 1.000 2 1998 2018
CUI: C0027126
Disease: Myotonic Dystrophy
Myotonic Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 155 4 0.010 None 1.000 1 2010 2010
CUI: C0410226
Disease: Congenital Myotonic Dystrophy
Congenital Myotonic Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 9 0.010 None 1.000 1 2002 2002
CUI: C1832399
Disease: Charcot-Marie-Tooth disease, Type 4B1
Charcot-Marie-Tooth disease, Type 4B1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 5 0.010 None 1.000 1 2018 2018
CUI: C2931689
Disease: Dystrophia myotonica 2
Dystrophia myotonica 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 118 21 0.010 None 1.000 1 2010 2010