ARX, aristaless related homeobox, 170302

N. diseases: 76; N. variants: 3
Source: BEFREE ×
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1017790646
rs1017790646 		1.000 0.080 X 25013333 missense variant G/A snv
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs104894743
rs104894743 		0.807 0.200 X 25012937 missense variant G/A snv
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs104894743
rs104894743 		0.807 0.200 X 25012937 missense variant G/A snv
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2009 2009
dbSNP: rs104894743
rs104894743 		0.807 0.200 X 25012937 missense variant G/A snv
CUI: C0037769
Disease: West Syndrome
West Syndrome 		Nervous System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs104894743
rs104894743 		0.807 0.200 X 25012937 missense variant G/A snv
CUI: C1848199
Disease: X-Linked Lissencephaly
X-Linked Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs104894743
rs104894743 		0.807 0.200 X 25012937 missense variant G/A snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2009 2009
dbSNP: rs104894743
rs104894743 		0.807 0.200 X 25012937 missense variant G/A snv
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		Nervous System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs398122854
rs398122854 		0.882 0.040 X 25015657 stop gained G/C snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs398122854
rs398122854 		0.882 0.040 X 25015657 stop gained G/C snv
CUI: C0393706
Disease: Early infantile epileptic encephalopathy with suppression bursts
Early infantile epileptic encephalopathy with suppression bursts 		Nervous System Diseases 0.010 1.000 1 2010 2010