Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
0.450 GeneticVariation disease BEFREE 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
0.450 GeneticVariation disease BEFREE GNAO1 mutations have been shown to impart oncogene properties as well as cause epileptic encephalopathy. 26060304 2016
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
0.450 GeneticVariation disease BEFREE Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay. 25966631 2016
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
0.450 GeneticVariation disease BEFREE Recently, four patients with epileptic encephalopathy (EIEE17) were found to have mutations in GNAO1, the most abundant G protein in brain, but the mechanism of this effect is not known. 24700286 2014
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
0.450 Biomarker disease GENOMICS_ENGLAND By whole-exome sequencing and subsequent mutation screening, we identified de novo heterozygous mutations in GNAO1, which encodes a Gαo subunit of heterotrimeric G proteins, in four individuals with epileptic encephalopathy. 23993195 2013
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
0.450 GeneticVariation disease BEFREE By whole-exome sequencing and subsequent mutation screening, we identified de novo heterozygous mutations in GNAO1, which encodes a Gαo subunit of heterotrimeric G proteins, in four individuals with epileptic encephalopathy. 23993195 2013
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
0.450 GeneticVariation disease CLINVAR
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
0.450 Biomarker disease HPO