Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28935479
rs28935479
ARX
0.800 GeneticVariation UNIPROT ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. 11971879

2002
dbSNP: rs28935479
rs28935479
ARX
T 0.800 CausalMutation CLINVAR

dbSNP: rs28936077
rs28936077
ARX
0.800 GeneticVariation UNIPROT

dbSNP: rs28936077
rs28936077
ARX
G 0.800 CausalMutation CLINVAR

dbSNP: rs387906492
rs387906492
ARX
TGCCGCCGCCGCCGCCGCCGCC 0.700 CausalMutation CLINVAR Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach. 26029707

2015
dbSNP: rs387906493
rs387906493
ARX
GCGGCCGCGGCTGCCGCGGCGGCCC 0.700 CausalMutation CLINVAR Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach. 26029707

2015
dbSNP: rs398124510
rs398124510
ARX
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
ARX
GGCCGCGGCGGCCGCGGCCGCGGCT 0.700 CausalMutation CLINVAR The genetic landscape of infantile spasms. 24781210

2014
dbSNP: rs387906492
rs387906492
ARX
TGCCGCCGCCGCCGCCGCCGCCGCC 0.700 CausalMutation CLINVAR CDKL5 and ARX mutations in males with early-onset epilepsy. 23583054

2013
dbSNP: rs387906492
rs387906492
ARX
TGCCGCCGCCGCCGCCGCCGCCGCC 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: rs387906492
rs387906492
ARX
TGCCGCCGCCGCCGCCGCCGCC 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
ARX
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
ARX
GGCCGCGGCGGCCGCGGCCGCGGCT 0.700 CausalMutation CLINVAR Novel mutation in ARX associated with early hand preference and a mild phenotype. 22922607

2012
dbSNP: rs387906493
rs387906493
ARX
GCGGCCGCGGCTGCCGCGGCGGCCC 0.700 CausalMutation CLINVAR ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia. 21204215

2011
dbSNP: rs387906493
rs387906493
ARX
GCGGCCGCGGCTGCCGCGGCGGCCC 0.700 CausalMutation CLINVAR ARX spectrum disorders: making inroads into the molecular pathology. 20506206

2010
dbSNP: rs398124510
rs398124510
ARX
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
ARX
GGCCGCGGCGGCCGCGGCCGCGGCT 0.700 CausalMutation CLINVAR Clinical study of two brothers with a novel 33 bp duplication in the ARX gene. 19507262

2009
dbSNP: rs387906492
rs387906492
ARX
TGCCGCCGCCGCCGCCGCCGCC 0.700 CausalMutation CLINVAR Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus. 17664401

2007
dbSNP: rs387906492
rs387906492
ARX
TGCCGCCGCCGCCGCCGCCGCC 0.700 CausalMutation CLINVAR Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene. 17490853

2007
dbSNP: rs387906492
rs387906492
ARX
TGCCGCCGCCGCCGCCGCCGCCGCC 0.700 CausalMutation CLINVAR Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus. 17664401

2007
dbSNP: rs387906493
rs387906493
ARX
GCGGCCGCGGCTGCCGCGGCGGCCC 0.700 CausalMutation 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
dbSNP: rs387906493
rs387906493
ARX
GCGGCCGCGGCTGCCGCGGCGGCCC 0.700 CausalMutation CLINVAR Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis. 16235064

2006
dbSNP: rs387906492
rs387906492
ARX
TGCCGCCGCCGCCGCCGCCGCC 0.700 CausalMutation CLINVAR Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation. 15726411

2005
dbSNP: rs387906492
rs387906492
ARX
TGCCGCCGCCGCCGCCGCCGCCGCC 0.700 CausalMutation CLINVAR A polyalanine tract expansion in Arx forms intranuclear inclusions and results in increased cell death. 15533998

2004
dbSNP: rs398124510
rs398124510
ARX
GGCCGCGGCGGCCGCGGCCGCGGCT 0.700 CausalMutation CLINVAR Polyalanine expansion of ARX associated with cryptogenic West syndrome. 12874418

2003