Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.500 CausalMutation CLINVAR Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature. 28503590

2019
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.500 CausalMutation CLINVAR GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome. 28357411

2017
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.500 CausalMutation CLINVAR Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations. 28747448

2017
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.500 CausalMutation CLINVAR Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay. 25966631

2016
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.500 CausalMutation CLINVAR The authors report 2 cases of brothers with a severe movement disorder and hypotonia without epilepsy who have been confirmed by whole exome sequencing to have a novel mutation in GNAO1. 26060304

2016
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.500 CausalMutation CLINVAR Patients with GNAO1 mutations can present with a severe, progressive movement disorder in the absence of epilepsy. 27068059

2016
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.500 CausalMutation CLINVAR Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 25590979

2015
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.500 CausalMutation CLINVAR Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy. 26485252

2015
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.500 CausalMutation 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
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.500 CausalMutation CLINVAR Augmented glucose-induced insulin release in mice lacking G(o2), but not G(o1) or G(i) proteins. 21220323

2011
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.500 CausalMutation CLINVAR G alpha(o) is necessary for muscarinic regulation of Ca2+ channels in mouse heart. 9050846

1997
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.500 GeneticVariation CLINVAR

Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 CausalMutation CLINVAR Dravet syndrome--from epileptic encephalopathy to channelopathy. 24836964

2014
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 GeneticVariation CLINVAR Dravet syndrome--from epileptic encephalopathy to channelopathy. 24836964

2014
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 GeneticVariation CLINVAR Structure and function of voltage-gated sodium channels at atomic resolution. 24097157

2014
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 CausalMutation CLINVAR Structure and function of voltage-gated sodium channels at atomic resolution. 24097157

2014
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 CausalMutation CLINVAR Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome. 22719002

2012
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 CausalMutation CLINVAR Progressive gait deterioration in adolescents with Dravet syndrome. 22409937

2012
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 GeneticVariation CLINVAR Progressive gait deterioration in adolescents with Dravet syndrome. 22409937

2012
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 GeneticVariation CLINVAR Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome. 22719002

2012
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 GeneticVariation CLINVAR Dravet syndrome and parent associations: the IDEA League experience with comorbid conditions, mortality, management, adaptation, and grief. 21463290

2011
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 CausalMutation CLINVAR Dravet syndrome and parent associations: the IDEA League experience with comorbid conditions, mortality, management, adaptation, and grief. 21463290

2011
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 CausalMutation CLINVAR Genotype-phenotype associations in SCN1A-related epilepsies. 21248271

2011
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 GeneticVariation CLINVAR Genotype-phenotype associations in SCN1A-related epilepsies. 21248271

2011
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 CausalMutation CLINVAR Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients. 21269283

2011