EGR2, early growth response 2, 1959

N. diseases: 133; N. variants: 23
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: C1843247
Disease: Charcot-Marie-Tooth disease, Type 1D (disorder)
Charcot-Marie-Tooth disease, Type 1D (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 4 0.710 None 1.000 8 4 1998 2012
CUI: C4721437
Disease: Charcot-Marie-Tooth disease, Type 4E
Charcot-Marie-Tooth disease, Type 4E 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 0.500 None 1.000 3 2005 2009
CUI: C4749147
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL DOMINANT
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL DOMINANT 		disease Disease or Syndrome 1 0.200 None 1.000 3 2005 2009
CUI: C4016028
Disease: DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL DOMINANT
DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL DOMINANT 		disease Finding 1 2 0.100 None 0 2
CUI: C4721436
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 2 4 0.800 None 1.000 5 1 1998 2012
CUI: C0596992
Disease: myelinopathy
myelinopathy 		disease Nervous System Diseases Disease or Syndrome 3 0.060 None 1.000 6 1998 2002
CUI: C0019816
Disease: Hereditary, Type VII, Motor and Sensory Neuropathy
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
CUI: C1832776
Disease: Hypertrophic nerve changes
Hypertrophic nerve changes 		phenotype Finding 6 0.100 None 0
CUI: C4024927
Disease: Peripheral hypomyelination
Peripheral hypomyelination 		phenotype Finding 7 1 0.100 None 0
CUI: C4025799
Disease: Ulnar claw
Ulnar claw 		disease Musculoskeletal Diseases Congenital Abnormality 9 0.100 None 0
CUI: C0393818
Disease: Congenital hypomyelinating neuropathy
Congenital hypomyelinating neuropathy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 11 10 0.400 None 1.000 11 3 1998 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 0.100 None 0 1
CUI: C1854510
Disease: Abnormality of the cranial nerves
Abnormality of the cranial nerves 		disease Anatomical Abnormality 17 2 0.120 None 1.000 2 2 2000 2001
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
Hereditary Motor and Sensory Neuropathy Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 19 84 0.160 None 1.000 21 9 1998 2016
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy 		disease Disease or Syndrome 21 0.200 None 1.000 3 2005 2009
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 3 2005 2009
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 3 2005 2009
CUI: C1843077
Disease: Segmental peripheral demyelination/remyelination
Segmental peripheral demyelination/remyelination 		phenotype Finding 21 0.100 None 0
CUI: C0393814
Disease: Hereditary liability to pressure palsies
Hereditary liability to pressure palsies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 23 11 0.010 None 1.000 1 1999 1999
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 3 2005 2009
CUI: C1806780
Disease: Increased CSF protein
Increased CSF protein 		phenotype Finding 26 1 0.100 None 0
CUI: C1847906
Disease: Onion bulb formation
Onion bulb formation 		phenotype Finding 28 1 0.100 None 0
CUI: C1858285
Disease: Decreased number of peripheral myelinated nerve fibers
Decreased number of peripheral myelinated nerve fibers 		phenotype Finding 28 0.100 None 0
CUI: C1698196
Disease: Muscle Weakness Upper Limb
Muscle Weakness Upper Limb 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 29 3 0.100 None 0
CUI: C0751791
Disease: Reflex Epilepsy, Audiogenic
Reflex Epilepsy, Audiogenic 		disease Nervous System Diseases Disease or Syndrome 31 0.010 None 1.000 1 2017 2017