Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 170302
Gene Symbol: ARX
ARX
0.740 GeneticVariation disease BEFREE Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype. 24727054 2015
Entrez Id: 170302
Gene Symbol: ARX
ARX
0.740 GeneticVariation disease BEFREE Aristaless-related homeobox gene (ARX) mutation leads to several neurological disorders including X-linked lissencephaly with abnormal genitalia (XLAG), West syndrome and Partington syndrome, with XLAG being the most severe form. 20538404 2011
Entrez Id: 170302
Gene Symbol: ARX
ARX
0.740 GeneticVariation disease BEFREE Mutations in the human ARX gene have been shown to cause nonsyndromic X-linked mental retardation (MRX) as well as syndromic forms such as X-linked lissencephaly with abnormal genitalia (XLAG), Partington syndrome and X-linked infantile spasm. 16235064 2006
Entrez Id: 170302
Gene Symbol: ARX
ARX
0.740 GermlineCausalMutation disease ORPHANET Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. 11889467 2002
Entrez Id: 170302
Gene Symbol: ARX
ARX
0.740 Biomarker disease GENOMICS_ENGLAND Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. 12379852 2002
Entrez Id: 170302
Gene Symbol: ARX
ARX
0.740 GeneticVariation disease BEFREE The map intervals of 5 X-linked mental retardation loci, MRX2 (Xp22.1-p22.2), MRX19 (Xp22), MRX21 (Xp21.1-p22.3), MRX29 (Xp21.2-p22.1), and MRX32 (Xp21.2-p22.1), and two syndromal mental retardation loci, Partington syndrome (PRTS; Xp22) and Coffin-Lowry syndrome (CLS; Xp22.13-p22.2), overlap this region. 8826457 1996
Entrez Id: 170302
Gene Symbol: ARX
ARX
0.740 CausalMutation disease CLINVAR
Entrez Id: 170302
Gene Symbol: ARX
ARX
0.740 Biomarker disease CTD_human