MPZ, myelin protein zero, 4359

N. diseases: 249; N. variants: 88
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 Ib
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 12 51 1.000 None 1.000 87 51 1992 2019
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 1.000 None 1.000 47 17 1992 2019
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 0.900 None 1.000 6 5 1992 2019
Charcot-Marie-Tooth disease, Type 2J
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 7 0.710 None 1.000 5 7 1999 2009
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 0.700 None 1.000 144 16 1988 2020
Hereditary Motor and Sensory Neuropathy Type I
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 19 84 0.700 None 1.000 91 48 1991 2019
Charcot-Marie-Tooth disease, Type 2I
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 4 14 0.700 None 1.000 5 14 1998 2004
Charcot-Marie-Tooth Disease, Dominant Intermediate D
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 6 0.700 None 1.000 1 6 1999 1999
Hereditary Motor and Sensory Neuropathies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 53 11 0.600 None 0.905 21 3 1992 2019
NEUROPATHY, CONGENITAL HYPOMYELINATING, 2
disease Disease or Syndrome 5 9 0.400 None 1.000 3 2 1996 2004
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 2 4 0.400 None 1.000 1 3 2015 2015
Hereditary Motor and Sensory-Neuropathy Type II
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 48 144 0.360 None 0.500 6 1 1992 2006
Charcot-Marie-Tooth Disease, Type Ia (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 42 24 0.330 None 1.000 3 1994 2001
CUI: C0442874
Disease: Neuropathy
Neuropathy
group Nervous System Diseases Disease or Syndrome 484 110 0.300 None 1.000 44 4 1992 2019
Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2012 2012
CUI: C0751214
Disease: Hyperalgesia, Thermal
Hyperalgesia, Thermal
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 154 0.300 None 1.000 1 2006 2006
CUI: C0020429
Disease: Hyperalgesia
Hyperalgesia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 451 4 0.300 None 1.000 1 2006 2006
CUI: C0751212
Disease: Hyperalgesia, Secondary
Hyperalgesia, Secondary
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 88 0.300 None 1.000 1 2006 2006
CUI: C2936719
Disease: Mechanical Allodynia
Mechanical Allodynia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 408 4 0.300 None 1.000 1 2006 2006
CUI: C0751213
Disease: Tactile Allodynia
Tactile Allodynia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 114 0.300 None 1.000 1 2006 2006
CUI: C0458247
Disease: Allodynia
Allodynia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 84 0.300 None 1.000 1 2006 2006
Keratoderma palmoplantar spastic paralysis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2017 2017
CUI: C0751211
Disease: Hyperalgesia, Primary
Hyperalgesia, Primary
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 84 0.300 None 1.000 1 2006 2006
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration
phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 165 17 0.300 None 1.000 1 2006 2006
Hereditary, Type VII, Motor and Sensory Neuropathy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 6 0.300 None 0