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