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: rs387906492
rs387906492
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C0796244
Disease:
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		TGCCGCCGCCGCCGCCGCCGCC 0.700 CausalMutation CLINVAR Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach. 26029707 2015
dbSNP: rs387906492
rs387906492
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C0796244
Disease:
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		TGCCGCCGCCGCCGCCGCCGCCGCC 0.700 CausalMutation CLINVAR CDKL5 and ARX mutations in males with early-onset epilepsy. 23583054 2013
dbSNP: rs387906492
rs387906492
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C0796244
Disease:
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		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
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C0796244
Disease:
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		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: rs387906492
rs387906492
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C0796244
Disease:
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		TGCCGCCGCCGCCGCCGCCGCC 0.700 CausalMutation CLINVAR Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus. 17664401 2007
dbSNP: rs387906492
rs387906492
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C0796244
Disease:
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		TGCCGCCGCCGCCGCCGCCGCC 0.700 CausalMutation CLINVAR Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene. 17490853 2007
dbSNP: rs387906492
rs387906492
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C0796244
Disease:
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		TGCCGCCGCCGCCGCCGCCGCCGCC 0.700 CausalMutation CLINVAR Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus. 17664401 2007
dbSNP: rs387906492
rs387906492
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C0796244
Disease:
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		TGCCGCCGCCGCCGCCGCCGCC 0.700 CausalMutation CLINVAR Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation. 15726411 2005
dbSNP: rs387906492
rs387906492
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C0796244
Disease:
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		TGCCGCCGCCGCCGCCGCCGCCGCC 0.700 CausalMutation CLINVAR A polyalanine tract expansion in Arx forms intranuclear inclusions and results in increased cell death. 15533998 2004
dbSNP: rs387906492
rs387906492
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C0796244
Disease:
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		TGCCGCCGCCGCCGCCGCCGCCGCC 0.700 CausalMutation CLINVAR Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. 11889467 2002
dbSNP: rs387906492
rs387906492
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C0796244
Disease:
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		TGCCGCCGCCGCCGCCGCCGCC 0.700 CausalMutation CLINVAR Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. 11889467 2002