Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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G | 0.700 | CausalMutation | CLINVAR | GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. | 28377535 | 2017 |
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G | 0.700 | CausalMutation | CLINVAR | Further evidence for GRIN2B mutation as the cause of severe epileptic encephalopathy. | 27605359 | 2016 |
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G | 0.700 | CausalMutation | CLINVAR | De novo mutations in moderate or severe intellectual disability. | 25356899 | 2014 |
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G | 0.700 | CausalMutation | CLINVAR | Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders. | 24126926 | 2014 |
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G | 0.700 | CausalMutation | CLINVAR | GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy. | 24272827 | 2014 |
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G | 0.700 | CausalMutation | CLINVAR | Genetic analysis of GABRB3 as a candidate gene of autism spectrum disorders. | 24999380 | 2014 |
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G | 0.700 | CausalMutation | CLINVAR | Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. | 24267886 | 2013 |
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G | 0.700 | CausalMutation | CLINVAR | Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene. | 23718928 | 2013 |
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G | 0.700 | CausalMutation | CLINVAR | Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. | 23933819 | 2013 |
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G | 0.700 | CausalMutation | CLINVAR | De novo mutations in epileptic encephalopathies. | 23934111 | 2013 |
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G | 0.700 | CausalMutation | CLINVAR | The NMDA receptor as a target for cognitive enhancement. | 22796429 | 2013 |
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G | 0.700 | CausalMutation | CLINVAR | GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. | 23933820 | 2013 |
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G | 0.700 | CausalMutation | CLINVAR | Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. | 23160955 | 2012 |
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G | 0.700 | CausalMutation | CLINVAR | Diagnostic exome sequencing in persons with severe intellectual disability. | 23033978 | 2012 |
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G | 0.700 | CausalMutation | CLINVAR | Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia. | 22833210 | 2011 |
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G | 0.700 | CausalMutation | CLINVAR | Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. | 21572417 | 2011 |
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G | 0.700 | CausalMutation | CLINVAR | Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. | 20890276 | 2010 |
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G | 0.700 | CausalMutation | CLINVAR | Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. | 17357078 | 2007 |
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G | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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G | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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G | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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G | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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G | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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G | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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G | 0.700 | GeneticVariation | CLINVAR |