MAG, myelin associated glycoprotein, 4099

N. diseases: 106; N. variants: 9
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.
SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE
disease Disease or Syndrome 1 4 0.700 None 1.000 3 4 2014 2016
CUI: C0027743
Disease: Nerve compression syndrome
Nerve compression syndrome
disease Nervous System Diseases Disease or Syndrome 5 0.200 None 1.000 1 2006 2006
CUI: C1510429
Disease: Entrapment Neuropathies
Entrapment Neuropathies
group Nervous System Diseases Disease or Syndrome 5 0.200 None 1.000 1 2006 2006
CUI: C1736154
Disease: Anti-MAG neuropathy
Anti-MAG neuropathy
disease Disease or Syndrome 5 0.010 None 1.000 1 2017 2017
CUI: C0231690
Disease: Titubation
Titubation
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 5 0.100 None 0
CUI: C0344299
Disease: Temporal pallor of optic disc
Temporal pallor of optic disc
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 5 0.100 None 0
CUI: C0032587
Disease: Polyradiculoneuropathy
Polyradiculoneuropathy
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 8 0.010 None 1.000 1 2019 2019
CUI: C0393847
Disease: Multifocal motor neuropathy
Multifocal motor neuropathy
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 13 0.010 None 1.000 1 2017 2017
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 0.010 None 1.000 1 2000 2000
CUI: C1834696
Disease: Hyporeflexia of lower limbs
Hyporeflexia of lower limbs
phenotype Finding 19 1 0.100 None 0
CUI: C0043020
Disease: Wallerian Degeneration
Wallerian Degeneration
phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 21 0.200 None 1.000 1 2003 2003
CUI: C0431370
Disease: Atrophy of corpus callosum
Atrophy of corpus callosum
disease Nervous System Diseases Disease or Syndrome 21 2 0.100 None 0
CUI: C1856694
Disease: Areflexia of lower limbs
Areflexia of lower limbs
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 24 4 0.100 None 0
CUI: C1858723
Disease: Poikiloderma with Neutropenia
Poikiloderma with Neutropenia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 25 24 0.010 None 1.000 1 2020 2020
CUI: C0022541
Disease: Kearns-Sayre syndrome
Kearns-Sayre syndrome
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 29 5 0.010 None 1.000 1 2012 2012
CUI: C1836451
Disease: Distal lower limb amyotrophy
Distal lower limb amyotrophy
disease Disease or Syndrome 29 8 0.100 None 0
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 30 30 0.010 None 1.000 1 2015 2015
CUI: C0454596
Disease: Dysarthria, Spastic
Dysarthria, Spastic
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 30 1 0.100 None 0
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 32 11 0.010 None 1.000 1 2019 2019
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 33 8 0.100 None 0
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 35 1 0.010 None 1.000 1 2018 2018
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 40 13 0.010 None 1.000 1 2017 2017
Charcot-Marie-Tooth Disease, Type Ia (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 42 24 0.010 None 1.000 1 2013 2013
Central nervous system demyelination
disease Disease or Syndrome 52 3 0.010 None 1.000 1 2012 2012
CUI: C1136085
Disease: Monoclonal Gammapathies
Monoclonal Gammapathies
group Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 62 2 0.060 None 1.000 6 1986 2019