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