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: 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 0.940 limited 1.000 7 2 1999 2019
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: 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: 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 0.500 None 1.000 3 2005 2009
CUI: C0553580
Disease: Ewings sarcoma
Ewings sarcoma 		disease Neoplasms Neoplastic Process 517 25 0.430 None 1.000 3 2 2012 2016
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: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.340 None 0.333 4 2 2010 2015
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.320 None 1.000 3 2017 2017
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.320 None 1.000 2 2 2012 2013
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 234 368 0.310 None 1.000 1 2009 2009
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.310 None 1.000 1 2009 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 0.300 None 1.000 18 6 1998 2017
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		disease Cardiovascular Diseases Disease or Syndrome 756 103 0.300 None 1.000 1 2005 2005
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: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy 		disease Disease or Syndrome 21 0.200 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: 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: 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: 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: C0740392
Disease: Infarction, Middle Cerebral Artery
Infarction, Middle Cerebral Artery 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 145 0.200 None 1.000 1 2012 2012
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: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		group Nervous System Diseases Disease or Syndrome 549 69 0.150 None 1.000 5 2000 2007
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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.110 None 1.000 2 1 2017 2019