ARX, aristaless related homeobox, 170302

N. diseases: 249; N. variants: 44
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894743
rs104894743
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C3463992
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		0.800 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
dbSNP: rs104894743
rs104894743
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C3463992
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		0.800 GeneticVariation UNIPROT Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation. 12376946 2002
dbSNP: rs104894743
rs104894743
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C3463992
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		0.800 GeneticVariation UNIPROT Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. 11889467 2002
dbSNP: rs104894743
rs104894743
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C3463992
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs387906492
rs387906492
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C3463992
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		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
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C3463992
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		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
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C3463992
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		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
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C3463992
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		GGCCGCGGCGGCCGCGGCCGCGGCT 0.700 CausalMutation CLINVAR The genetic landscape of infantile spasms. 24781210 2014
dbSNP: rs387906492
rs387906492
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C3463992
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		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: C3463992
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		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: C3463992
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		TGCCGCCGCCGCCGCCGCCGCCGCC 0.700 CausalMutation CLINVAR CDKL5 and ARX mutations in males with early-onset epilepsy. 23583054 2013
dbSNP: rs398124510
rs398124510
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C3463992
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		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
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C3463992
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		GGCCGCGGCGGCCGCGGCCGCGGCT 0.700 CausalMutation CLINVAR Novel mutation in ARX associated with early hand preference and a mild phenotype. 22922607 2012
dbSNP: rs387906493
rs387906493
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C3463992
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		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: C3463992
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		GCGGCCGCGGCTGCCGCGGCGGCCC 0.700 CausalMutation CLINVAR ARX spectrum disorders: making inroads into the molecular pathology. 20506206 2010
dbSNP: rs398124510
rs398124510
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C3463992
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		GGCCGCGGCGGCCGCGGCCGCGGCT 0.700 CausalMutation CLINVAR Clinical study of two brothers with a novel 33 bp duplication in the ARX gene. 19507262 2009
dbSNP: rs398124510
rs398124510
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C3463992
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		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: rs387906492
rs387906492
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C3463992
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		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: C3463992
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		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: C3463992
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		TGCCGCCGCCGCCGCCGCCGCC 0.700 CausalMutation CLINVAR Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus. 17664401 2007
dbSNP: rs387906493
rs387906493
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C3463992
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		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: C3463992
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		GCGGCCGCGGCTGCCGCGGCGGCCC 0.700 CausalMutation CLINVAR Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis. 16235064 2006
dbSNP: rs387906492
rs387906492
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C3463992
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		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: C3463992
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		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
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C3463992
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		GGCCGCGGCGGCCGCGGCCGCGGCT 0.700 CausalMutation CLINVAR Polyalanine expansion of ARX associated with cryptogenic West syndrome. 12874418 2003