ARX, aristaless related homeobox, 170302

N. diseases: 249; N. variants: 44
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: rs104894741
rs104894741
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C1846171
Disease:
Lissencephaly, X-Linked, 2 		0.800 GeneticVariation UNIPROT Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. 14722918 2004
dbSNP: rs104894745
rs104894745
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C0796124
Disease:
Proud Syndrome 		0.800 GeneticVariation UNIPROT Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. 14722918 2004
dbSNP: rs111033612
rs111033612
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C1846171
Disease:
Lissencephaly, X-Linked, 2 		0.800 GeneticVariation UNIPROT Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. 14722918 2004
dbSNP: rs104894741
rs104894741
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C1846171
Disease:
Lissencephaly, X-Linked, 2 		0.800 GeneticVariation UNIPROT Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. 12379852 2002
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: rs111033612
rs111033612
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C1846171
Disease:
Lissencephaly, X-Linked, 2 		0.800 GeneticVariation UNIPROT Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. 12379852 2002
dbSNP: rs28935479
rs28935479
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C0796244
Disease:
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		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: rs104894741
rs104894741
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C1846171
Disease:
Lissencephaly, X-Linked, 2 		T 0.800 CausalMutation CLINVAR
dbSNP: rs104894743
rs104894743
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C3463992
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs104894745
rs104894745
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C0796124
Disease:
Proud Syndrome 		T 0.800 CausalMutation CLINVAR
dbSNP: rs111033612
rs111033612
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C1846171
Disease:
Lissencephaly, X-Linked, 2 		A 0.800 CausalMutation CLINVAR
dbSNP: rs111033612
rs111033612
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C1846171
Disease:
Lissencephaly, X-Linked, 2 		T 0.800 CausalMutation CLINVAR
dbSNP: rs28935479
rs28935479
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C0796244
Disease:
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		T 0.800 CausalMutation CLINVAR
dbSNP: rs28936077
rs28936077
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C0796244
Disease:
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		0.800 GeneticVariation UNIPROT
dbSNP: rs28936077
rs28936077
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C0796244
Disease:
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		G 0.800 CausalMutation CLINVAR
dbSNP: rs1556055108
rs1556055108
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C0026827
Disease:
Muscle hypotonia 		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
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C0432072
Disease:
Dysmorphic features 		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
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Genetic Basis of Brain Malformations. 27781032 2016
dbSNP: rs1556055108
rs1556055108
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Genetic Basis of Brain Malformations. 27781032 2016
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: 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: 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: 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