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: 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: C0234146
Disease: Absent reflex
Absent reflex 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 201 16 0.100 None 0
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		disease Musculoskeletal Diseases Acquired Abnormality 149 2 0.100 None 0
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.010 None 1.000 1 1997 1997
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency 		disease Cardiovascular Diseases Disease or Syndrome 377 8 0.020 None 1.000 2 2014 2016
CUI: C0003578
Disease: Apnea
Apnea 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 262 11 0.010 None 1.000 1 1996 1996
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 35 1 0.100 None 0
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: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.040 None 1.000 4 2010 2018
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		disease Cardiovascular Diseases Congenital Abnormality 154 23 0.010 None 1.000 1 2018 2018
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: C0853193
Disease: Bipolar I disorder
Bipolar I disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 83 46 0.010 None 1.000 1 2012 2012
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
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.010 None 1.000 1 2009 2009
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.010 None 1.000 1 2020 2020
CUI: C4048328
Disease: cervical cancer
cervical cancer 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1817 268 0.010 None 1.000 1 2017 2017
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1881 283 0.010 None 1.000 1 2017 2017
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: 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: 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: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		group Mental Disorders Mental or Behavioral Dysfunction 168 379 0.100 None 1.000 1 1 2019 2019
CUI: C1333015
Disease: Childhood Kidney Wilms Tumor
Childhood Kidney Wilms Tumor 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 338 36 0.010 None 1.000 1 1995 1995
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		disease Neoplasms Neoplastic Process 2420 231 0.010 None 1.000 1 2009 2009
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		disease Neoplasms Neoplastic Process 2208 151 0.010 None 1.000 1 2008 2008