Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
MENTAL RETARDATION, AUTOSOMAL DOMINANT 10
0.600 Biomarker disease GENOMICS_ENGLAND Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. 21376300 2011
MENTAL RETARDATION, AUTOSOMAL DOMINANT 10
0.600 GeneticVariation disease UNIPROT Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. 21376300 2011
MENTAL RETARDATION, AUTOSOMAL DOMINANT 10
0.600 Biomarker disease CTD_human
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.350 Biomarker disease PSYGENET Between-gene interactions including DAO*DISC1 , DAO*NRG1 and DAO*RASD2 and a within-gene interaction for CACNG2 were found among schizophrenia subjects with severe sustained attention deficits, suggesting a modifying effect of impaired neuropsychological functioning. 23555897 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.350 Biomarker disease BEFREE Between-gene interactions including DAO*DISC1 , DAO*NRG1 and DAO*RASD2 and a within-gene interaction for CACNG2 were found among schizophrenia subjects with severe sustained attention deficits, suggesting a modifying effect of impaired neuropsychological functioning. 23555897 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.350 GeneticVariation disease BEFREE Three of five candidate vulnerability genes (RASD2, APOL5, MYH9, EIF3S7, and CACNG2), which had marginally significant associations with schizophrenia, had significant associations with schizophrenic patients who did not have deficits in sustained attention on the undegraded CPT (RASD2 gene SNP rs736212; p = .0008 with single locus analysis) and the degraded CPT (MYH9 gene haplotype 1-1-1-1 of SNP rs3752463 - rs1557540 - rs713839 - rs739097; p = .0059 with haplotype analysis). 18571626 2008
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.350 Biomarker disease PSYGENET We aimed to examine the expression levels of Stargazin in post-mortem brain samples of patients with schizophrenia, patients with bipolar disorder (BPD) and healthy controls, test for genetic association between Stargazin and these disorders and test for genetic association between Stargazin and response to lithium treatment. 18408563 2008
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.350 Biomarker disease BEFREE We aimed to examine the expression levels of Stargazin in post-mortem brain samples of patients with schizophrenia, patients with bipolar disorder (BPD) and healthy controls, test for genetic association between Stargazin and these disorders and test for genetic association between Stargazin and response to lithium treatment. 18408563 2008
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.350 Biomarker disease PSYGENET Three of five candidate vulnerability genes (RASD2, APOL5, MYH9, EIF3S7, and CACNG2), which had marginally significant associations with schizophrenia, had significant associations with schizophrenic patients who did not have deficits in sustained attention on the undegraded CPT (RASD2 gene SNP rs736212; p = .0008 with single locus analysis) and the degraded CPT (MYH9 gene haplotype 1-1-1-1 of SNP rs3752463 - rs1557540 - rs713839 - rs739097; p = .0059 with haplotype analysis). 18571626 2008
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.350 Biomarker disease BEFREE A recent report has suggested that copy number variations in four genes (GRIK3, EFNA5, AKAP5 and CACNG2) may be associated with schizophrenia. 17826036 2007
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.350 AlteredExpression disease BEFREE In situ hybridization for AMPA-trafficking molecules showed decreased expression of PICK1 and increased expression of stargazin in DLPFC in schizophrenia, both restricted to large cells of cortical layer III. 16983646 2006
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
0.200 Biomarker disease RGD A quantitative trait locus in chromosome 7 containing the stargazin gene has been identified as controlling the frequency and duration of absence seizures in the Genetic Absence Epilepsy Rats from Strasbourg (GAERS). 18556211 2008
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.100 GeneticVariation disease GWASDB Genome-wide association database developed in the Japanese Integrated Database Project. 19629137 2009
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
0.100 Biomarker disease HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.100 Biomarker group HPO
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
0.050 Biomarker phenotype BEFREE When stratifying patients by different levels of MRD, the respective TTP medians were: MRD ≥10(-3) 27 months, MRD 10(-3) to 10(-5) 48 months, and MRD <10(-5) 80 months (P = .003 to .0001). 24646471 2014
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
0.050 Biomarker phenotype BEFREE Of the 31 patients in remission at 12 months post-HCT, disease-free survival was 86% in patients with MRD <10(-4) and 20% in those with MRD ≥10(-4) (relapse hazard ratio (HR) 9.0; 95% confidence interval (CI) 2.5-32; P<0.0001), with median follow-up of 36 months. 23419792 2013
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
0.050 Biomarker phenotype BEFREE Molecular good responders (MRD < 10(-3), n=46) had a probability of event-free survival (pEFS) at 10 years of 76% standard error (SE) ± 6% and a cumulative incidence of second relapse (CIR) at 10 years of 21% SE ± 6%; pEFS of molecular poor responders (MRD ≥ 10(-3), n=34) at 10 years was 18% SE ± 7% and CIR 61% SE ± 9% (p<0.001). 23265714 2013
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
0.050 Biomarker phenotype BEFREE Unfavorable prognosis was shown for MRD≥10(-3) on day 36 (p<0.001), and any positive MRD before (p<0.001) and after (p=0.001) MT. 21596436 2011
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
0.050 Biomarker phenotype BEFREE Fifteen patients were found to have high-level MRD (10(-2) to 10(-3)), 10 had low-level MRD (< 10(-3)), and 5 were MRD(-). 11535539 2001
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.030 Biomarker disease BEFREE Evidence for the association of lithium response with SNPs in CACNG2 is consistent with previous findings that have identified CACNG2 as associated with both bipolar disorder and lithium responsiveness. 30738251 2019
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.030 GeneticVariation disease BEFREE Evidence for association of bipolar disorder to haplotypes in the 22q12.3 region near the genes stargazin, IFT27 and parvalbumin. 23038240 2012
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.030 Biomarker disease BEFREE We aimed to examine the expression levels of Stargazin in post-mortem brain samples of patients with schizophrenia, patients with bipolar disorder (BPD) and healthy controls, test for genetic association between Stargazin and these disorders and test for genetic association between Stargazin and response to lithium treatment. 18408563 2008
CUI: C0030193
Disease: Pain
Pain
0.020 Biomarker phenotype BEFREE This integrated approach has led to identification of CACNG2 as a novel neuropathic pain gene affecting pain susceptibility both in mice and humans. 22775325 2012
CUI: C0030193
Disease: Pain
Pain
0.020 GeneticVariation phenotype BEFREE Analysis of stargazer mice, a Cacng2 hypomorphic mutant, provided electrophysiological and behavioral evidence for the gene's functional role in pain processing. 20688780 2010