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.
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: 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
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: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy
disease Disease or Syndrome 21 0.200 None 1.000 2 2004 2005
Hereditary motor and sensory neuropathy, types I-IV
disease Disease or Syndrome 21 0.200 None 1.000 2 2004 2005
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: 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
Peroneal muscular atrophy (axonal type) (hypertrophic type)
disease Disease or Syndrome 21 0.200 None 1.000 2 2004 2005
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: C0021704
Disease: Intelligence
Intelligence
phenotype Behavior and Behavior Mechanisms Mental Process 645 2093 0.100 None 1.000 1 1 2018 2018
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 117 16 0.100 None 0
Decreased motor nerve conduction velocity
phenotype Finding 41 0.100 None 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 393 2 0.100 None 0
CUI: C0522216
Disease: Abnormal auditory evoked potential
Abnormal auditory evoked potential
phenotype Finding 11 2 0.100 None 0
CUI: C4024922
Disease: Irregular myelin loops
Irregular myelin loops
disease Anatomical Abnormality 1 0.100 None 0
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 86 5 0.100 None 0
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease Disease or Syndrome 106 7 0.100 None 0
CUI: C1854301
Disease: Motor delay
Motor delay
phenotype Mental Disorders Finding 384 34 0.100 None 0
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 112 11 0.100 None 0
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: C0015469
Disease: Facial paralysis
Facial paralysis
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 182 3 0.100 None 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.100 None 0
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: 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