rs387906493, ARX

N. diseases: 3
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
0.700 CausalMutation CLINVAR Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach. 26029707 2015
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
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
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
0.700 CausalMutation CLINVAR ARX spectrum disorders: making inroads into the molecular pathology. 20506206 2010
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
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
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
0.700 CausalMutation CLINVAR Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis. 16235064 2006