Gene: GNAO1 ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.500 CausalMutation group CLINVAR Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature. 28503590 2019
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.500 CausalMutation group CLINVAR GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome. 28357411 2017
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.500 CausalMutation group CLINVAR Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations. 28747448 2017
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.500 CausalMutation group CLINVAR Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay. 25966631 2016
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.500 CausalMutation group 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 		0.500 CausalMutation group 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 		0.500 CausalMutation group CLINVAR Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 25590979 2015
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.500 CausalMutation group 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 		0.500 CausalMutation group 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 		0.500 CausalMutation group 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 		0.500 CausalMutation group CLINVAR G alpha(o) is necessary for muscarinic regulation of Ca2+ channels in mouse heart. 9050846 1997
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.500 GeneticVariation group CLINVAR