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: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 608 51 0.150 None 1.000 5 2007 2014
CUI: C0221760
Disease: brain cyst
brain cyst 		disease Disease or Syndrome 18 0.010 None 1.000 1 2003 2003
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2004 2004
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		disease Disease or Syndrome 31 3 0.110 None 1.000 1 2010 2010
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: C0158687
Disease: Congenital malformation of genital organs
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: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 32 9 0.140 None 1.000 4 2005 2014
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 0.740 None 1.000 4 2002 2016
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: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 128 13 0.100 None 0.944 18 1996 2008
CUI: C1848199
Disease: X-Linked Lissencephaly
X-Linked Lissencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 13 1 0.100 None 1.000 11 1 2003 2013
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 51 2 0.300 None 0.917 9 1 2002 2017
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: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 26 0.320 None 0.667 2 1999 2006
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 721 80 0.010 None 1.000 1 2016 2016
CUI: C0020225
Disease: Hydranencephaly
Hydranencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 7 0.010 None 1.000 1 2010 2010
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 228 54 0.010 None 1.000 1 2013 2013
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 23 2 0.010 None 1.000 1 1996 1996
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 53 11 0.010 None 1.000 1 2012 2012
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 24 0.010 None 1.000 1 2005 2005
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: 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: 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: 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: 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