Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.380 | Biomarker | disease | CTD_human | Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. | 21572417 | 2011 | ||||
|
0.380 | Biomarker | disease | BEFREE | This study supports a possible role of GRIN2B as a candidate gene for the etiology of ASDs. | 22326929 | 2012 | ||||
|
0.380 | GeneticVariation | disease | BEFREE | Here, we identified two de novo mutations in patients with sporadic SCZ in GRIN2A and one de novo mutation in GRIN2B in a patient with ASD. | 22833210 | 2011 | ||||
|
0.380 | GeneticVariation | disease | BEFREE | GRIN2B alterations, including mutation and gene disruption by apparently balanced chromosomal rearrangements, have been described in patients with intellectual disability and autism spectrum disorder. | 23918416 | 2013 | ||||
|
0.380 | GeneticVariation | disease | BEFREE | A de novo nonsense variant in GRIN2B was identified in an ASD case adding to the growing evidence that this is an important risk gene for the disorder. | 24126926 | 2014 | ||||
|
0.380 | Biomarker | disease | BEFREE | Mutation screening of GRIN2B in schizophrenia and autism spectrum disorder in a Japanese population. | 27616045 | 2016 | ||||
|
0.380 | Biomarker | disease | BEFREE | The influence of NBEA-KIF21B interactions on GluN2B-NMDAR local recycling may be relevant to mechanisms underlying ASD etiology. | 29847800 | 2018 | ||||
|
0.380 | AlteredExpression | disease | BEFREE | Symptomatic mice presenting ASD-like behavior showed decreased levels of GABA pathway proteins such as GAD65/67 and VGAT and altered ratios of the glutamate receptor subunits GluR1/GluR2 in males and NR2A/NR2B in females. | 31133774 | 2019 | ||||
|
0.380 | Biomarker | disease | BEFREE | Analysis of <i>de novo</i> mutations identified <i>GRIN2B</i>, which encodes the GluN2B subunit of NMDA receptors, as a gene linked to ASDs with high probability. | 31548203 | 2019 |