ARX, aristaless related homeobox, 170302

N. diseases: 249; N. variants: 44
Disease: Lissencephaly ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1017790646
rs1017790646
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C0266463
Disease:
Lissencephaly 		0.010 GeneticVariation BEFREE After excluding lissencephaly-related genes, one deleterious mutation (NM_178153.2:c.665C > T, p.Thr222Ile) in the DCX gene was identified. 23583063 2013