ARX, aristaless related homeobox, 170302

N. diseases: 249; N. variants: 44
Disease: X-linked infantile spasms ×
Source: ALL
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: 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