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
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.430 Biomarker CLINGEN Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature. 28503590

2019
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.430 Biomarker CLINGEN Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing. 29390993

2018
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.430 Biomarker CLINGEN GNAO1-associated epileptic encephalopathy and movement disorders: c.607G>A variant represents a probable mutation hotspot with a distinct phenotype. 28202424

2017
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.430 Biomarker CLINGEN Expanding Phenotype of De Novo Mutations in GNAO1: Four New Cases and Review of Literature. 28628939

2017
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.430 Biomarker CLINGEN Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations. 28747448

2017
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.430 Biomarker CLINGEN GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome. 28357411

2017
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.430 Biomarker CLINGEN De novo heterozygous mutations in the GNAO1 gene, encoding the Gα o subunit of G-proteins, are the cause of a severe neurodevelopmental disorder, featuring early infantile seizures, profound cognitive dysfunction and, occasionally, movement disorder (early infantile epileptic encephalopathy-17). 27072799

2016
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.430 Biomarker CLINGEN De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654

2016
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.430 Biomarker CLINGEN De novo GNAO1 variants have been found in four patients including three patients with Ohtahara syndrome and one patient with childhood epilepsy. 25966631

2016
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.430 Biomarker CLINGEN GNAO1 is a disease-causing gene for the autosomal dominant form of early infantile epileptic encephalopathy. 26485252

2015
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.430 Biomarker CLINGEN De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. 25262651

2014
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.430 Biomarker CLINGEN De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy. 23993195

2013
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.430 Biomarker CLINGEN G alpha(o) is necessary for muscarinic regulation of Ca2+ channels in mouse heart. 9050846

1997
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 Biomarker CLINGEN Patients with this variant show a well-defined genotype-phenotype correlation and present with developmental and early infantile epileptic encephalopathy that is far more severe than typical SCN1A Dravet syndrome. 30779207

2019
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 Biomarker CLINGEN Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype. 28794249

2017
Entrez Id: 150094
Gene Symbol: SIK1
SIK1
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.300 Biomarker CLINGEN Epilepsy-causing sequence variations in SIK1 disrupt synaptic activity response gene expression and affect neuronal morphology. 27966542

2017
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.300 Biomarker CLINGEN De novo DNM1 mutations in two cases of epileptic encephalopathy. 26611353

2016