Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 Biomarker CLINGEN Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders. 29655203

2018
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 Biomarker CLINGEN Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes. 29924869

2018
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 Biomarker CLINGEN Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel. 29056246

2017
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 Biomarker CLINGEN Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes. 29190809

2017
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 Biomarker CLINGEN Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy. 25951140

2015
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 Biomarker CLINGEN CDKL5 and ARX mutations in males with early-onset epilepsy. 23583054

2013
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 Biomarker CLINGEN Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females. 19439424

2009
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 Biomarker CLINGEN Expansion of the ARX spectrum. 18462864

2008