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
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796244
Disease: MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		0.700 CausalMutation disease CLINVAR Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach. 26029707 2015
CUI: C0796244
Disease: MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		0.700 CausalMutation disease CLINVAR The genetic landscape of infantile spasms. 24781210 2014
CUI: C0796244
Disease: MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		0.700 CausalMutation disease CLINVAR A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX. 23246292 2013
CUI: C0796244
Disease: MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		0.700 CausalMutation disease CLINVAR CDKL5 and ARX mutations in males with early-onset epilepsy. 23583054 2013
CUI: C0796244
Disease: MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		0.700 CausalMutation disease CLINVAR Novel mutation in ARX associated with early hand preference and a mild phenotype. 22922607 2012
CUI: C0796244
Disease: MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		0.700 CausalMutation disease CLINVAR ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia. 21204215 2011
CUI: C0796244
Disease: MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		0.700 CausalMutation disease CLINVAR ARX spectrum disorders: making inroads into the molecular pathology. 20506206 2010
CUI: C0796244
Disease: MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		0.700 CausalMutation disease 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
CUI: C0796244
Disease: MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		0.700 CausalMutation disease CLINVAR Clinical study of two brothers with a novel 33 bp duplication in the ARX gene. 19507262 2009
CUI: C0796244
Disease: MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		0.700 CausalMutation disease CLINVAR Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus. 17664401 2007
CUI: C0796244
Disease: MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		0.700 CausalMutation disease CLINVAR Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene. 17490853 2007
CUI: C0796244
Disease: MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		0.700 CausalMutation disease CLINVAR Aristaless-related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent transcriptional repressor. 17331656 2007
CUI: C0796244
Disease: MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		0.700 CausalMutation disease CLINVAR Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis. 16235064 2006
CUI: C0796244
Disease: MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		0.700 CausalMutation disease CLINVAR Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation. 15726411 2005
CUI: C0796244
Disease: MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		0.700 CausalMutation disease CLINVAR A polyalanine tract expansion in Arx forms intranuclear inclusions and results in increased cell death. 15533998 2004
CUI: C0796244
Disease: MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		0.700 CausalMutation disease CLINVAR Polyalanine expansion of ARX associated with cryptogenic West syndrome. 12874418 2003
CUI: C0796244
Disease: MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		0.700 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
CUI: C0796244
Disease: MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		0.700 CausalMutation disease CLINVAR Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. 11889467 2002
CUI: C0796244
Disease: MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		0.700 GeneticVariation disease UNIPROT ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. 11971879 2002
CUI: C0796244
Disease: MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		0.700 CausalMutation disease CLINVAR ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. 11971879 2002
CUI: C0796244
Disease: MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		0.700 Biomarker disease CTD_human
CUI: C0796244
Disease: MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		0.700 GeneticVariation disease CLINVAR