Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1970198
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6 		0.600 Biomarker disease GENOMICS_ENGLAND A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. 17847003 2007
CUI: C1970198
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6 		0.600 CausalMutation disease CLINVAR
CUI: C1970198
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6 		0.600 Biomarker disease CTD_human
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.510 GeneticVariation disease BEFREE Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12.9% to 85%. 30705370 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.510 Biomarker disease CTD_human Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12.9% to 85%. 30705370 2019
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.510 Biomarker disease PSYGENET These studies have produced informative models that have altered the expression of genes/pathways implicated in BD, including the point mutation D181A of mouse mitochondrial DNA polymerase (POLG), glutamate receptor 6 (GluR6), Clock, extracellular regulated kinase 1 (ERK1), glycogen synthase kinase-3beta (GSK-3beta), B-cell lymphoma 2 (Bcl-2) and Bcl-2-associated athanogene (BAG-1). 19407332 2009
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.510 GeneticVariation disease BEFREE These studies have produced informative models that have altered the expression of genes/pathways implicated in BD, including the point mutation D181A of mouse mitochondrial DNA polymerase (POLG), glutamate receptor 6 (GluR6), Clock, extracellular regulated kinase 1 (ERK1), glycogen synthase kinase-3beta (GSK-3beta), B-cell lymphoma 2 (Bcl-2) and Bcl-2-associated athanogene (BAG-1). 19407332 2009
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.510 Biomarker disease CTD_human The glutamate receptor 6 (GluR6 or GRIK2, one of the kainate receptors) gene resides in a genetic linkage region (6q21) associated with bipolar disorder (BPD), but its function in affective regulation is unknown. 18332879 2008
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.510 Biomarker disease PSYGENET The glutamate receptor 6 (GluR6 or GRIK2, one of the kainate receptors) gene resides in a genetic linkage region (6q21) associated with bipolar disorder (BPD), but its function in affective regulation is unknown. 18332879 2008
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.510 Biomarker disease PSYGENET In the entorhinal cortex, most changes in glutamate receptor expression were associated with BD, with decreased GluR2, GluR3, and GluR6 mRNA expression. 17299517 2007
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.510 GeneticVariation disease UNIPROT
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.380 Biomarker disease CTD_human Our results strengthen the case for a more detailed study of the role of RELN and GRIK2 in autism susceptibility, as well as identifying two new potential candidate genes, MKL2 and SND1. 20442744 2010
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.380 Biomarker disease BEFREE Previous studies implicated GluK2 in autism. 20863077 2010
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.380 Biomarker disease BEFREE Our results strengthen the case for a more detailed study of the role of RELN and GRIK2 in autism susceptibility, as well as identifying two new potential candidate genes, MKL2 and SND1. 20442744 2010
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.380 GeneticVariation disease BEFREE Therefore in the present study, we have performed genetic analysis of three markers of GluR6 (SNP1: rs2227281, SNP2: rs2227283, SNP3: rs2235076) for possible association with autism through population, and family-based (TDT and HHRR) approaches. 17712621 2007
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.380 GeneticVariation disease LHGDN Therefore in the present study, we have performed genetic analysis of three markers of GluR6 (SNP1: rs2227281, SNP2: rs2227283, SNP3: rs2235076) for possible association with autism through population, and family-based (TDT and HHRR) approaches. 17712621 2007
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.380 GeneticVariation disease LHGDN Our data on altered functional properties of GluR6(M836I) provide a functional basis for the postulated linkage of GluR6 to autism. 17167233 2006
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.380 GeneticVariation disease BEFREE Our data on altered functional properties of GluR6(M836I) provide a functional basis for the postulated linkage of GluR6 to autism. 17167233 2006
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.380 GeneticVariation disease BEFREE Only the GRIK2 SNP I867, recently associated with autism, was less transmitted than expected (p < 0.03), supporting a functional role for this variant. 15094479 2004
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.380 GeneticVariation disease BEFREE Our results suggested that GluR6 is in linkage disequilibrium with autism. 15389769 2004
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.380 GeneticVariation disease BEFREE These results are similar to the maternal GRIK2 transmission disequilibrium previously reported for autism, and support the presence of a susceptibility gene for schizophrenia at 6q16. 15305151 2004
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.380 GeneticVariation disease LHGDN Furthermore, TDT analysis (with only one affected proband per family) showed significant association between GluR6 and autism (TDT association P = 0.008). 11920157 2002
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.380 Biomarker disease CTD_human Furthermore, TDT analysis (with only one affected proband per family) showed significant association between GluR6 and autism (TDT association P = 0.008). 11920157 2002
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.380 Biomarker disease BEFREE Furthermore, TDT analysis (with only one affected proband per family) showed significant association between GluR6 and autism (TDT association P = 0.008). 11920157 2002
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.350 AlteredExpression disease BEFREE Several of the genes in this network including epigenetic factors histone deacetylase 1 (HDAC1) and death-associated protein 6 (DAXX), the GABAergic enzyme GAD65 as well as the kainate receptor (KAR) subunits GluR6 and 7 show significant changes in expression in this area in SZ. 27733539 2017