ARX, aristaless related homeobox, 170302

N. diseases: 249; N. variants: 44
Disease: MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398124510
rs398124510
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C0796244
Disease:
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		GGCCGCGGCGGCCGCGGCCGCGGCT 0.700 CausalMutation CLINVAR Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach. 26029707 2015
dbSNP: rs398124510
rs398124510
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C0796244
Disease:
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		GGCCGCGGCGGCCGCGGCCGCGGCT 0.700 CausalMutation CLINVAR The genetic landscape of infantile spasms. 24781210 2014
dbSNP: rs398124510
rs398124510
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C0796244
Disease:
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		GGCCGCGGCGGCCGCGGCCGCGGCT 0.700 CausalMutation CLINVAR A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX. 23246292 2013
dbSNP: rs398124510
rs398124510
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C0796244
Disease:
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		GGCCGCGGCGGCCGCGGCCGCGGCT 0.700 CausalMutation CLINVAR Novel mutation in ARX associated with early hand preference and a mild phenotype. 22922607 2012
dbSNP: rs398124510
rs398124510
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C0796244
Disease:
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		GGCCGCGGCGGCCGCGGCCGCGGCT 0.700 CausalMutation CLINVAR A novel de novo 27 bp duplication of the ARX gene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations. 19606478 2009
dbSNP: rs398124510
rs398124510
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C0796244
Disease:
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		GGCCGCGGCGGCCGCGGCCGCGGCT 0.700 CausalMutation CLINVAR Clinical study of two brothers with a novel 33 bp duplication in the ARX gene. 19507262 2009
dbSNP: rs398124510
rs398124510
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C0796244
Disease:
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		GGCCGCGGCGGCCGCGGCCGCGGCT 0.700 CausalMutation CLINVAR Polyalanine expansion of ARX associated with cryptogenic West syndrome. 12874418 2003
dbSNP: rs398124510
rs398124510
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C0796244
Disease:
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		GGCCGCGGCGGCCGCGGCCGCGGCT 0.700 CausalMutation CLINVAR ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. 11971879 2002