Gene: ARX ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1556055108
rs1556055108
ARX
A 0.700 CausalMutation CLINVAR An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX. 28150386

2017
dbSNP: rs1556055108
rs1556055108
ARX
A 0.700 CausalMutation CLINVAR Genetic Basis of Brain Malformations. 27781032

2016
dbSNP: rs1556055108
rs1556055108
ARX
A 0.700 CausalMutation CLINVAR Whole ARX gene duplication is compatible with normal intellectual development. 25044608

2014
dbSNP: rs1556055108
rs1556055108
ARX
A 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: rs1556055108
rs1556055108
ARX
A 0.700 CausalMutation CLINVAR Distinct DNA binding and transcriptional repression characteristics related to different ARX mutations. 22252899

2012
dbSNP: rs1556055108
rs1556055108
ARX
A 0.700 CausalMutation CLINVAR ARX spectrum disorders: making inroads into the molecular pathology. 20506206

2010
dbSNP: rs1556055108
rs1556055108
ARX
A 0.700 CausalMutation CLINVAR Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females. 19439424

2009
dbSNP: rs1556055108
rs1556055108
ARX
A 0.700 CausalMutation CLINVAR A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). 17668384

2007
dbSNP: rs1556055108
rs1556055108
ARX
A 0.700 CausalMutation CLINVAR Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. 14722918

2004
dbSNP: rs1556055108
rs1556055108
ARX
A 0.700 CausalMutation CLINVAR Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. 12379852

2002
dbSNP: rs1556055108
rs1556055108
ARX
A 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
dbSNP: rs1556055108
rs1556055108
ARX
A 0.700 CausalMutation CLINVAR Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis. 10398246

1999
dbSNP: rs1556055108
rs1556055108
ARX
A 0.700 CausalMutation CLINVAR New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum. 1605226

1992
dbSNP: rs1556055108
rs1556055108
ARX
A 0.700 CausalMutation CLINVAR X-linked mental retardation with dystonic movements of the hands. 3177452

1988