ARX, aristaless related homeobox, 170302

N. diseases: 249; N. variants: 44
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.030 AlteredExpression disease BEFREE Analysing genes deregulated in either or both mutant strains, we identified 12% as implicated in ID, epilepsy and autism (99/858), with ∼5% of them as putative or known direct targets of ARX transcriptional regulation. 27798109 2016
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.030 Biomarker disease BEFREE In contrast, variations in surrounding non-coding sequences are correlated with milder forms of non-syndromic ID and autism and had suggested the importance of ARX gene regulation in the etiology of these disorders. 26337422 2015
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.030 GeneticVariation disease LHGDN These findings indicate that mutations in the ARX gene are very rare in autism. 17044103 2007
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.030 GeneticVariation disease BEFREE These findings indicate that mutations in the ARX gene are very rare in autism. 17044103 2007