ARX, aristaless related homeobox, 170302

N. diseases: 76; N. variants: 3
Source: BEFREE ×
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: C0027765
Disease: nervous system disorder
nervous system disorder 		group Nervous System Diseases Disease or Syndrome 942 39 0.070 None 1.000 7 2006 2013
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		group Nervous System Diseases Disease or Syndrome 158 37 0.050 None 1.000 5 2002 2011
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 485 10 0.050 None 1.000 5 2016 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1091 73 0.050 None 1.000 5 2009 2019
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		group Nervous System Diseases Disease or Syndrome 334 64 0.050 None 1.000 5 2010 2018
CUI: C0220775
Disease: RUSSELL-SILVER SYNDROME, X-LINKED
RUSSELL-SILVER SYNDROME, X-LINKED 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 4 0.040 None 1.000 4 1996 2015
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 58 9 0.040 None 1.000 2 1 2002 2009
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 864 217 0.030 None 1.000 3 2007 2016
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype Mental Disorders Mental or Behavioral Dysfunction 545 37 0.030 None 1.000 3 2007 2013
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases Congenital Abnormality 102 6 0.030 None 1.000 3 2010 2016
CUI: C1845118
Disease: SHORT STATURE, IDIOPATHIC, X-LINKED
SHORT STATURE, IDIOPATHIC, X-LINKED 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 18 2 0.020 None 1.000 2 2007 2009
CUI: C0302142
Disease: Deformity
Deformity 		group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26 0.020 None 1.000 2 2009 2019
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group Nervous System Diseases Disease or Syndrome 173 8 0.020 None 1.000 2 2008 2010
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 93 4 0.020 None 1.000 2 2003 2013
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 36 0.010 None 1.000 1 2012 2012
CUI: C0796225
Disease: Mental Retardation, X-Linked 19
Mental Retardation, X-Linked 19 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 0.010 None 1.000 1 1996 1996
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		disease Mental Disorders Mental or Behavioral Dysfunction 1018 256 0.010 None 1.000 1 2007 2007
CUI: C1848201
Disease: Subcortical Band Heterotopia
Subcortical Band Heterotopia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 23 1 0.010 None 1.000 1 2013 2013
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		disease Nervous System Diseases Disease or Syndrome 57 26 0.010 None 1.000 1 2009 2009
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 5 0.010 None 1.000 1 2016 2016
CUI: C1827396
Disease: Refractory infantile spasms
Refractory infantile spasms 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2008 2008
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2004 2004
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 669 77 0.010 None 1.000 1 2016 2016
CUI: C1368683
Disease: Epithelioma
Epithelioma 		disease Neoplasms Neoplastic Process 322 2 0.010 None 1.000 1 2018 2018
CUI: C2750247
Disease: Polymicrogyria, Asymmetric
Polymicrogyria, Asymmetric 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2012 2012