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: C3279756
Disease: HERMANSKY-PUDLAK SYNDROME 7
HERMANSKY-PUDLAK SYNDROME 7 		0.800 Biomarker disease GENOMICS_ENGLAND Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS. 28259707 2017
CUI: C3279756
Disease: HERMANSKY-PUDLAK SYNDROME 7
HERMANSKY-PUDLAK SYNDROME 7 		0.800 Biomarker disease GENOMICS_ENGLAND 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: C3279756
Disease: HERMANSKY-PUDLAK SYNDROME 7
HERMANSKY-PUDLAK SYNDROME 7 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome 		0.610 Biomarker disease GENOMICS_ENGLAND
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe 		0.200 Biomarker disease RGD Dysbindin was expressed in the cytoplasm of neurons from epileptic specimens, and levels of dysbindin proteins were significantly increased in patients with TLE. 22337344 2012
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.380 Biomarker disease PSYGENET The dystrobrevin binding protein 1 (DTNBP1) and neuregulin 1 (NRG1) genes have been related to schizophrenia (SZ) and bipolar disorder (BP) by several whole-genome linkage and associations studies. 18234478 2008
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.380 Biomarker disease PSYGENET Genetic epidemiological studies support an overlap between schizophrenia and bipolar disorder, and COMT, BDNF, 5-HTT, NRG1 and DTNBP1 genes have been implicated in the aetiology of both these disorders. 19573260 2009
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.380 Biomarker disease PSYGENET Our results are consistent with previous studies in term of a general association between DTNBP1 and bipolar disorder and provide additional evidence that a portion of the genotypic overlap between schizophrenia and bipolar affective disorder is attributable to this gene. 19089808 2009
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.380 Biomarker disease PSYGENET Among 3 genes associated with schizophrenia or bipolar disorder in multiple previous studies, including dysbindin (DTNBP1), neuregulin (NRG1), and disrupted-in-schizophrenia 1 (DISC1), only DISC1 showed evidence of association in this cohort. 18180429 2008
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.380 Biomarker disease PSYGENET The dysbindin-1 gene (DTNBP1) has been associated with schizophrenia and bipolar disorder diagnoses. 21305691 2011
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.360 Biomarker disease PSYGENET In conclusion, our results suggest that SNPs in the dysbindin gene are unlikely to play a major role in the pathophysiology of major depression or are in linkage disequilibrium (LD) with a neighboring mutation or gene. 15274041 2004
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.360 Biomarker disease PSYGENET A sample of 243 Caucasian inpatients with MDD (SCID-I) was genotyped for 12 SNPs spanning 92% of the DTNBP1 gene region. 20951386 2011
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.360 Biomarker disease PSYGENET We investigated dysbindin gene (DTNBP1) variants in major depression and clinical response to selective serotonin reuptake inhibitors. 19065121 2009
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.360 Biomarker disease PSYGENET Two intronic SNPs of DTNBP1; rs760761 (P1320) and rs2619522 (P1763) were analyzed in 206 patients with DSM-IV MDD to investigate the functional impact of genotypes on susceptibility for depression and some clinical phenotypes. 20822372 2010
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.360 Biomarker disease PSYGENET Coupled with previous findings on schizophrenia, our finding suggests that dysbindin gene variants may have a role in the susceptibility to MDD. 17964051 2008
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		0.340 Biomarker disease PSYGENET Dysbindin (DTNBP1)--a role in psychotic depression? 20951386 2011
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		0.340 Biomarker disease PSYGENET We investigated dysbindin gene (DTNBP1) variants in major depression and clinical response to selective serotonin reuptake inhibitors. 19065121 2009
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		0.340 Biomarker disease PSYGENET Dysbindin gene (DTNBP1) in major depressive disorder (MDD) patients: lack of association with clinical phenotypes. 20822372 2010
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		0.340 Biomarker disease PSYGENET Is there protective haplotype of dysbindin gene (DTNBP1) 3 polymorphisms for major depressive disorder. 17964051 2008
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		0.340 Biomarker disease PSYGENET In conclusion, our results suggest that SNPs in the dysbindin gene are unlikely to play a major role in the pathophysiology of major depression or are in linkage disequilibrium (LD) with a neighboring mutation or gene. 15274041 2004
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.330 Biomarker disease PSYGENET The present association of dysbindin SNPs with negative symptoms and DAO SNPs with anxiety and depression is a replication of earlier findings and strengthens the hypothesis of a genetic association. 19729970 2009
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.330 Biomarker disease PSYGENET Molecular genetic studies point to potential risk loci of psychotic depression shared with schizoaffective disorder (1q42, 22q11, 19p13), depression, bipolar disorder, and schizophrenia (6p, 8p22, 10p13-12, 10p14, 13q13-14, 13q32, 18p, 22q11-13) and several vulnerability genes possibly contributing to an increased risk of psychotic symptoms in depression (eg, BDNF, DBH, DTNBP1, DRD2, DRD4, GSK-3beta, MAO-A). 23512949 2013
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.330 Biomarker disease PSYGENET Here, association between variants of BDNF and DTNBP1, and multiple anxiety and depression phenotypes is explored. 18797396 2008
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.330 Biomarker disease PSYGENET Two intronic SNPs of DTNBP1; rs760761 (P1320) and rs2619522 (P1763) were analyzed in 206 patients with DSM-IV MDD to investigate the functional impact of genotypes on susceptibility for depression and some clinical phenotypes. 20822372 2010
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.330 Biomarker disease PSYGENET The present association of dysbindin SNPs with negative symptoms and DAO SNPs with anxiety and depression is a replication of earlier findings and strengthens the hypothesis of a genetic association. 19729970 2009