Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.040 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
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.040 Biomarker disease BEFREE The current Review considers metabotropic functions of the NMDA receptor that could play a role in sociability and the pathogenesis of ASD (e.g., mTOR signaling), in addition to its more familiar ionotropic functions, and provides a rationale for therapeutic exploration of NR2A-selective PAMs. 30481555 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.040 GeneticVariation disease BEFREE To test the association between candidate genes related with NMDA receptors and autism spectrum disorders (ASDs), we examined single nucleotide polymorphisms (SNPs) for GRIN2A and GRIN2B by using the family-based association test (FBAT) in 151 Korean trios. 22326929 2012
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.040 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