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: rs387906493
rs387906493
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C0796244
Disease:
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		GCGGCCGCGGCTGCCGCGGCGGCCC 0.700 CausalMutation CLINVAR Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach. 26029707 2015
dbSNP: rs387906493
rs387906493
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C0796244
Disease:
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		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
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C0796244
Disease:
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		GCGGCCGCGGCTGCCGCGGCGGCCC 0.700 CausalMutation CLINVAR ARX spectrum disorders: making inroads into the molecular pathology. 20506206 2010
dbSNP: rs387906493
rs387906493
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C0796244
Disease:
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		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
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C0796244
Disease:
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		GCGGCCGCGGCTGCCGCGGCGGCCC 0.700 CausalMutation CLINVAR Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis. 16235064 2006