Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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A | 0.700 | CausalMutation | CLINVAR | Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature. | 28503590 | 2019 |
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A | 0.700 | CausalMutation | CLINVAR | GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome. | 28357411 | 2017 |
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A | 0.700 | CausalMutation | CLINVAR | Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations. | 28747448 | 2017 |
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A | 0.700 | CausalMutation | CLINVAR | Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder. | 27068059 | 2016 |
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A | 0.700 | CausalMutation | CLINVAR | Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay. | 25966631 | 2016 |
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A | 0.700 | CausalMutation | CLINVAR | Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation. | 26060304 | 2016 |
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A | 0.700 | CausalMutation | CLINVAR | Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. | 25590979 | 2015 |
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A | 0.700 | CausalMutation | CLINVAR | Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy. | 26485252 | 2015 |
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A | 0.700 | CausalMutation | CLINVAR | De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy. | 23993195 | 2013 |
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A | 0.700 | CausalMutation | CLINVAR | Augmented glucose-induced insulin release in mice lacking G(o2), but not G(o1) or G(i) proteins. | 21220323 | 2011 |
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A | 0.700 | CausalMutation | CLINVAR | G alpha(o) is necessary for muscarinic regulation of Ca2+ channels in mouse heart. | 9050846 | 1997 |