ARX, aristaless related homeobox, 170302

N. diseases: 249; N. variants: 44
Disease: Early infantile epileptic encephalopathy with suppression bursts ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398122854
rs398122854
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C0393706
Disease:
Early infantile epileptic encephalopathy with suppression bursts 		0.010 GeneticVariation BEFREE Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X). 19738637 2010