Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 170302
Gene Symbol: ARX
ARX 		0.700 Biomarker disease CTD_human
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.430 Biomarker disease CLINGEN Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature. 28503590 2019
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.430 Biomarker disease 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 		0.430 Biomarker disease BEFREE GNAO1 has been recently identified to be involved in the pathogenesis of early infantile epileptic encephalopathy and movement disorders. 30103967 2018
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.430 Biomarker disease 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 		0.430 CausalMutation disease CLINVAR Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations. 28747448 2017
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.430 Biomarker disease 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 		0.430 CausalMutation disease CLINVAR 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 		0.430 Biomarker disease CLINGEN Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations. 28747448 2017
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.430 Biomarker disease CLINGEN GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome. 28357411 2017
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.430 GeneticVariation disease BEFREE 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 		0.430 CausalMutation disease CLINVAR 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 		0.430 CausalMutation disease CLINVAR 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 		0.430 Biomarker disease 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 		0.430 Biomarker disease CLINGEN De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654 2016
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.430 Biomarker disease 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 		0.430 CausalMutation disease CLINVAR Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation. 26060304 2016
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.430 GeneticVariation disease BEFREE 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 		0.430 Biomarker disease 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 		0.430 Biomarker disease CLINGEN De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. 25262651 2014
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.430 Biomarker disease 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 		0.430 CausalMutation disease CLINVAR 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 		0.430 Biomarker disease CLINGEN G alpha(o) is necessary for muscarinic regulation of Ca2+ channels in mouse heart. 9050846 1997
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.420 Biomarker disease 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 		0.420 Biomarker disease BEFREE 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