MTMR2, myotubularin related protein 2, 8898

N. diseases: 50; N. variants: 15
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: C0039273
Disease: Talipes cavus
Talipes cavus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 213 2 0.010 None 1.000 1 2 2019 2019
CUI: C0333072
Disease: Claw-shaped deformity
Claw-shaped deformity 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 1 2 0.010 None 1.000 1 2 2019 2019
CUI: C0579144
Disease: Cavovarus deformity of foot
Cavovarus deformity of foot 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Anatomical Abnormality 6 2 0.010 None 1.000 1 2 2019 2019
CUI: C4024922
Disease: Irregular myelin loops
Irregular myelin loops 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 29 140 0.040 None 1.000 4 2003 2018
CUI: C0728829
Disease: Congenital pes cavus
Congenital pes cavus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Congenital Abnormality 19 15 0.010 None 1.000 1 2 2019 2019
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 285 44 0.100 None 0
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 208 136 0.300 None 1.000 23 1 1996 2019
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 1.000 None 1.000 14 5 1999 2018
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 95 14 0.080 None 1.000 8 1996 2019
CUI: C0442874
Disease: Neuropathy
Neuropathy 		group Nervous System Diseases Disease or Syndrome 484 110 0.080 None 1.000 8 2001 2017
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 53 11 0.230 None 1.000 5 1996 2005
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 40 13 0.050 None 1.000 5 2002 2019
CUI: C0752282
Disease: Congenital Structural Myopathy
Congenital Structural Myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 18 1 0.050 None 1.000 5 2002 2019
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 14 77 0.120 None 1.000 3 9 2000 2013
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		group Nervous System Diseases Disease or Syndrome 549 69 0.030 None 1.000 3 2003 2017
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 176 45 0.200 None 1.000 2 2004 2005
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		group Nervous System Diseases Disease or Syndrome 351 81 0.020 None 1.000 2 2003 2017
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 26 5 0.200 None 1.000 2 2004 2005
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		disease Nervous System Diseases Disease or Syndrome 104 4 0.020 None 1.000 2 2001 2001
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy 		disease Disease or Syndrome 21 0.200 None 1.000 2 2004 2005
CUI: C1408182
Disease: Hereditary motor and sensory neuropathy, types I-IV
Hereditary motor and sensory neuropathy, types I-IV 		disease Disease or Syndrome 21 0.200 None 1.000 2 2004 2005
CUI: C2875300
Disease: Peroneal muscular atrophy (axonal type) (hypertrophic type)
Peroneal muscular atrophy (axonal type) (hypertrophic type) 		disease Disease or Syndrome 21 0.200 None 1.000 2 2004 2005
CUI: C0017601
Disease: Glaucoma
Glaucoma 		disease Eye Diseases Disease or Syndrome 770 198 0.010 None 1.000 1 2004 2004
CUI: C0026848
Disease: Myopathy
Myopathy 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.010 None 1.000 1 2017 2017