ARX, aristaless related homeobox, 170302

N. diseases: 249; N. variants: 44
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: C1846171
Disease: Lissencephaly, X-Linked, 2
Lissencephaly, X-Linked, 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 1 25 0.740 None 1.000 7 25 2002 2016
CUI: C0796124
Disease: Proud Syndrome
Proud Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 1 0.700 strong 1.000 2 1 2002 2004
Hydranencephaly and Abnormal Genitalia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 1 2 0.600 moderate 1.000 1 2 2004 2004
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
CUI: C0234523
Disease: Apraxia, Ideomotor
Apraxia, Ideomotor
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2 1 0.010 None 1.000 1 2014 2014
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 3 7 0.700 strong 1.000 19 7 2002 2015
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: 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: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 5 46 0.010 None 1.000 1 2016 2016
CUI: C3151495
Disease: Long upper lip
Long upper lip
phenotype Finding 5 0.100 None 0
CUI: C0858684
Disease: Facial telangiectasia
Facial telangiectasia
phenotype Cardiovascular Diseases Finding 6 0.100 None 0
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 7 9 0.010 None 1.000 1 1996 1996
Congenital malformation of genital organs
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 8 1 0.010 None 1.000 1 2011 2011
CUI: C0270742
Disease: Athetoid cerebral palsy
Athetoid cerebral palsy
disease Nervous System Diseases Disease or Syndrome 8 0.010 None 1.000 1 2007 2007
CUI: C0393698
Disease: Cryptogenic Infantile Spasms
Cryptogenic Infantile Spasms
disease Nervous System Diseases Disease or Syndrome 8 0.010 None 1.000 1 2004 2004
CUI: C0423807
Disease: Overcurvature of nail
Overcurvature of nail
phenotype Finding 9 0.100 None 0
CUI: C1857500
Disease: Broad alveolar ridges
Broad alveolar ridges
phenotype Finding 10 0.100 None 0
CUI: C1969879
Disease: Limb joint contracture
Limb joint contracture
phenotype Finding 10 1 0.100 None 0
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 11 1 0.740 strong 1.000 6 1 1996 2015
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
disease Nervous System Diseases Disease or Syndrome 12 30 0.700 definitive 1.000 28 14 2002 2018
CUI: C1848199
Disease: X-Linked Lissencephaly
X-Linked Lissencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 14 1 0.100 None 1.000 11 1 2003 2013
Uni- and bilateral multifocal epileptiform discharges
phenotype Finding 14 0.100 None 0
CUI: C0020225
Disease: Hydranencephaly
Hydranencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 15 1 0.010 None 1.000 1 2010 2010
CUI: C4022849
Disease: Absent thumbnail
Absent thumbnail
phenotype Finding 15 0.100 None 0
CUI: C4023721
Disease: Abnormal hair pattern
Abnormal hair pattern
disease Anatomical Abnormality 15 1 0.100 None 0