DTNBP1, dystrobrevin binding protein 1, 84062

N. diseases: 93; N. variants: 22
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome
0.610 GeneticVariation disease BEFREE Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). 12923531 2003
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.600 GeneticVariation disease BEFREE We examined the effect of polymorphisms of two candidate genes that mediate glutamatergic signaling, viz., dysbindin (rs1011313) and neuregulin (rs35753505), on brain morphometry in patients with schizophrenia (N=38) and healthy subjects (N=37) from South India. 25042954 2014
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.600 Biomarker disease BEFREE As a direct interaction between dysbindin and AP-3 complex was reported, we examined a possible association between 16 SNPs in the AP3 complex genes and schizophrenia using 432 cases and 656 controls. 19481122 2009
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.600 GeneticVariation disease BEFREE We found a new schizophrenia risk and protective haplotypes in intron VII of DTNBP1; one of the most important candidate genes for this disorder, to-date. 17408693 2008
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.600 GeneticVariation disease BEFREE Despite this apparent paradox, our data may therefore suggest involvement of PIP4K2A in schizophrenia in those families for whom genetic variation in DTNBP1 appears also to be a risk factor. 19475563 2010
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.600 GeneticVariation disease BEFREE To test this, we examined the impact on visual processing in 61 healthy children aged 10-12 years of a genetic variant in DTNBP1 (rs2619538) that was common to all schizophrenia associated haplotypes in an earlier UK-Irish study. 19631276 2010
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.600 GeneticVariation disease BEFREE Analysis of high-resolution HapMap of DTNBP1 (Dysbindin) suggests no consistency between reported common variant associations and schizophrenia. 17033966 2006
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.600 GeneticVariation disease BEFREE Dysbindin and d-amino-acid-oxidase gene polymorphisms associated with positive and negative symptoms in schizophrenia. 19729970 2009
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.600 GeneticVariation disease BEFREE This study provides further evidence from a large case/control sample for association of common DTNBP1 alleles and haplotypes with schizophrenia. 19800201 2009
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.600 GeneticVariation disease BEFREE Our data provide complementary evidence for chromosome 8p as a susceptibility locus for schizophrenia, and suggest that genetic variation within this region may influence risk, at least in part, through effects on DTNBP1 expression. 18182443 2008
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.600 GeneticVariation disease BEFREE We report an association between DTNBP1 genotype and general cognitive ability (g) in two independent cohorts, including 213 patients with schizophrenia or schizo-affective disorder and 126 healthy volunteers. 16415041 2006
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.600 GeneticVariation disease BEFREE The human dystrobrevin binding protein 1 (DTNBP1) gene has been linked to risk for schizophrenia. 21130223 2010
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.600 Biomarker disease BEFREE DTNBP1 promoter DNA methylation may become a key element in a panel of biomarkers for diagnosis, prevention, or therapy in SCZ and at risk individuals pending confirmatory studies with larger sample sizes to attain a higher degree of significance. 26285059 2015
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.600 Biomarker disease BEFREE Our results, based on one of the largest samples of European Caucasians and using narrowly-defined criteria for SCZ, do not support the etiological involvement of Dysbindin markers in SCZ. 20083391 2010
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.600 Biomarker disease BEFREE Additionally, several important candidate genes for schizophrenia, such as dysbindin, are involved in processes closely linked to CME and membrane trafficking. 21986877 2012
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.600 GeneticVariation disease BEFREE However, it remains unknown whether deletion of dysbindin-1 impacts functions of the amygdala, a brain region that is critical for emotional processing, which is disrupted in patients with schizophrenia. 30967545 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.600 GeneticVariation disease BEFREE The possible association between a single nucleotide polymorphism (SNP) of DTNBP1 (rs2619539: P1655), which is a risk-independent SNP for schizophrenia in Japanese populations, and memory and IQ was investigated in 70 schizophrenia patients and 165 healthy volunteers in a Japanese population. 19496996 2009
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.600 GeneticVariation disease BEFREE Here, we discovered prevalent and novel cellular roles of the BLOC-1 complex in neuronal cells by performing large-scale Stable Isotopic Labeling of Cells in Culture (SILAC) quantitative proteomics combined with genetic analyses in dysbindin-null mice (Mus musculus) and the genome of schizophrenia patients. 22423091 2012
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.600 GeneticVariation disease BEFREE Several genes related to glutamate function, e.g. the DTNBP1, G72, and GRM3 genes, were shown to be associated with schizophrenia susceptibility. 19482054 2009
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.600 GeneticVariation disease BEFREE Single-nucleotide polymorphisms (SNPs) were genotyped in the DTNBP1 (dysbindin), G72/G30 and RGS4 genes, and the relatively unknown PIP5K2A gene, which is located in a region of linkage with both schizophrenia and bipolar disorder. 17410640 2007
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.600 Biomarker disease BEFREE Although the results are preliminary and needed replication in a larger sample, this study suggests that NMDA receptor-mediated signalling genes (DAO, PPP3CC, DTNBP1) might be involved in schizophrenia pathogenic mechanisms related to gender. 23497497 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.600 GeneticVariation disease BEFREE Several disposition genes for schizophrenia (DTNBP1, NRG1, G72) were identified, whereas evidence for specific disposition genes in bipolar disorder is more limited. 14677079 2003
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.600 GeneticVariation disease BEFREE The dysbindin gene is located at chromosome 6p22.3, one of the most promising susceptibility loci in schizophrenia linkage studies. 15345706 2004
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.600 Biomarker disease BEFREE Functional studies correlating CMYA5 with DTNBP1 and PKA warrant further investigation of the molecular basis of this gene in relationship to the signal transduction pathway(s) underlying the pathogenesis of schizophrenia. 23778016 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.600 Biomarker disease BEFREE Indeed, the DLPFC of schizophrenia cases exhibit increased PSD-95 and erbB4 and decreased receptor-type tyrosine-protein phosphatase-α (RPTPα) and dysbindin-1, each of which reduces Src activity via protein interaction with Src. 25330739 2015