DTNBP1, dystrobrevin binding protein 1, 84062

N. diseases: 93; N. variants: 22
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs752074481
rs752074481
Entrez Id: 84062
Gene Symbol: DTNBP1
DTNBP1
CUI: C0079504
Disease:
Hermanski-Pudlak Syndrome
C 0.700 CausalMutation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
dbSNP: rs9370823
rs9370823
Entrez Id: 84062;105374947
Gene Symbol: DTNBP1;LOC105374947
DTNBP1;LOC105374947
CUI: C0005890
Disease:
Body Height
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs9383064
rs9383064
Entrez Id: 84062;105374947
Gene Symbol: DTNBP1;LOC105374947
DTNBP1;LOC105374947
CUI: C0007137
Disease:
Squamous cell carcinoma
C 0.700 GeneticVariation GWASCAT Combined analysis of keratinocyte cancers identifies novel genome-wide loci. 31174203 2019
dbSNP: rs104893945
rs104893945
Entrez Id: 84062
Gene Symbol: DTNBP1
DTNBP1
CUI: C3279756
Disease:
HERMANSKY-PUDLAK SYNDROME 7
A 0.700 CausalMutation CLINVAR
dbSNP: rs104893945
rs104893945
Entrez Id: 84062
Gene Symbol: DTNBP1
DTNBP1
CUI: C0079504
Disease:
Hermanski-Pudlak Syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs727502866
rs727502866
Entrez Id: 84062
Gene Symbol: DTNBP1
DTNBP1
CUI: C3279756
Disease:
HERMANSKY-PUDLAK SYNDROME 7
T 0.700 CausalMutation CLINVAR
dbSNP: rs727502866
rs727502866
Entrez Id: 84062
Gene Symbol: DTNBP1
DTNBP1
CUI: C2931875
Disease:
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
T 0.700 CausalMutation CLINVAR
dbSNP: rs2619538
rs2619538
Entrez Id: 84062
Gene Symbol: DTNBP1
DTNBP1
CUI: C0036341
Disease:
Schizophrenia
0.050 GeneticVariation 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
dbSNP: rs2619538
rs2619538
Entrez Id: 84062
Gene Symbol: DTNBP1
DTNBP1
CUI: C0036341
Disease:
Schizophrenia
0.050 GeneticVariation BEFREE We have previously published evidence of association with a dysbindin risk haplotype derived from alleles C-A-T at SNPs P1655 (rs2619539), P1635 (rs3213207) and SNP66961 (rs2619538) in two independent schizophrenia (SZ) case-control samples. 18162312 2008
dbSNP: rs2619538
rs2619538
Entrez Id: 84062
Gene Symbol: DTNBP1
DTNBP1
CUI: C0036341
Disease:
Schizophrenia
0.050 GeneticVariation BEFREE A trend towards statistical association (P = 0.058) between schizophrenia and rs2619538 was found. 17290445 2007
dbSNP: rs2619538
rs2619538
Entrez Id: 84062
Gene Symbol: DTNBP1
DTNBP1
CUI: C0036341
Disease:
Schizophrenia
0.050 GeneticVariation BEFREE A single haplotype, which included rs2619538 and P1583, and one rare haplotype, composed of P1320 and P1757, were significantly associated with schizophrenia, but no previously reported haplotypes were associated. 16044171 2005
dbSNP: rs2619538
rs2619538
Entrez Id: 84062
Gene Symbol: DTNBP1
DTNBP1
CUI: C0036341
Disease:
Schizophrenia
0.050 GeneticVariation BEFREE Within the subset of bipolar I cases with predominantly psychotic episodes of mood disturbance (n = 133) we found nominally significant support for association at this haploptype (p < .042) and at SNP rs2619538 (p = .003), with a pattern of findings similar to that in our schizophrenia sample. 15820225 2005
dbSNP: rs9370822
rs9370822
Entrez Id: 84062;105374947
Gene Symbol: DTNBP1;LOC105374947
DTNBP1;LOC105374947
CUI: C0036341
Disease:
Schizophrenia
0.030 GeneticVariation BEFREE In summary, the present results provide preliminary support for dysbindin (DTNBP1) gene variation, particularly SNPs rs1997679 and rs9370822, to be associated with the clinical phenotype of psychotic depression suggesting a possible neurobiological mechanism for an intermediate trait on the continuum between affective disorders and schizophrenia. 20951386 2011
dbSNP: rs9370822
rs9370822
Entrez Id: 84062;105374947
Gene Symbol: DTNBP1;LOC105374947
DTNBP1;LOC105374947
CUI: C0036341
Disease:
Schizophrenia
0.030 GeneticVariation BEFREE These results suggest that DTNBP1 is a good candidate for schizophrenia risk and rs9370822 is either functionally important or in disequilibrium with a functional SNP, although our observations should be viewed with caution until they are independently replicated. 20615671 2010
dbSNP: rs9370822
rs9370822
Entrez Id: 84062;105374947
Gene Symbol: DTNBP1;LOC105374947
DTNBP1;LOC105374947
CUI: C0036341
Disease:
Schizophrenia
0.030 GeneticVariation BEFREE Recently we identified a DTNBP1 SNP (rs9370822) that is strongly associated with schizophrenia. 20615259 2010
dbSNP: rs1011313
rs1011313
Entrez Id: 84062
Gene Symbol: DTNBP1
DTNBP1
CUI: C0036341
Disease:
Schizophrenia
0.020 GeneticVariation 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
dbSNP: rs1011313
rs1011313
Entrez Id: 84062
Gene Symbol: DTNBP1
DTNBP1
CUI: C0036341
Disease:
Schizophrenia
0.020 GeneticVariation BEFREE Polymorphisms in RGS4, G72/G30, and PIP5K2A were neither associated with SZ-ND nor with SZ-D. SNP8NRG241930 showed association with the PANSS cognitive and hostility/excitability factors, rs1011313 with the negative factor and SDS total score, and rs10917670 in RGS4 was associated with the depression factor. 19937977 2010
dbSNP: rs2619522
rs2619522
Entrez Id: 84062
Gene Symbol: DTNBP1
DTNBP1
CUI: C1269683
Disease:
Major Depressive Disorder
0.020 GeneticVariation BEFREE 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
dbSNP: rs760761
rs760761
Entrez Id: 84062
Gene Symbol: DTNBP1
DTNBP1
CUI: C1269683
Disease:
Major Depressive Disorder
0.020 GeneticVariation BEFREE 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
dbSNP: rs1018381
rs1018381
Entrez Id: 84062
Gene Symbol: DTNBP1
DTNBP1
CUI: C0036341
Disease:
Schizophrenia
0.020 GeneticVariation BEFREE Genetic variation in dysbindin 1 (DTNBP1) gene region tagged by SNP rs1018381 exhibits a linkage with cognitive deficits in patients with schizophrenia and healthy subjects. 19497374 2009
dbSNP: rs1018381
rs1018381
Entrez Id: 84062
Gene Symbol: DTNBP1
DTNBP1
CUI: C0036341
Disease:
Schizophrenia
0.020 GeneticVariation BEFREE Conventional case-control comparisons showed that genotypes of the markers P1578 (rs1018381) and P1583 (rs909706) were nominally associated with schizophrenia in EAs and in AAs, respectively. 19862852 2009
dbSNP: rs2619539
rs2619539
Entrez Id: 84062
Gene Symbol: DTNBP1
DTNBP1
CUI: C0036341
Disease:
Schizophrenia
0.020 GeneticVariation 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
dbSNP: rs2619522
rs2619522
Entrez Id: 84062
Gene Symbol: DTNBP1
DTNBP1
CUI: C1269683
Disease:
Major Depressive Disorder
0.020 GeneticVariation BEFREE Haplotype analyses revealed a significant association with MDD (p=0.0007, protective A-C-T-A and A-C-C-C haplotypes), in particular the effect was due to the rs760761 (C/T) and rs2619522 (A/C) haplotype (p=0.000026). 17964051 2008
dbSNP: rs2619539
rs2619539
Entrez Id: 84062
Gene Symbol: DTNBP1
DTNBP1
CUI: C0036341
Disease:
Schizophrenia
0.020 GeneticVariation BEFREE We have previously published evidence of association with a dysbindin risk haplotype derived from alleles C-A-T at SNPs P1655 (rs2619539), P1635 (rs3213207) and SNP66961 (rs2619538) in two independent schizophrenia (SZ) case-control samples. 18162312 2008
dbSNP: rs760761
rs760761
Entrez Id: 84062
Gene Symbol: DTNBP1
DTNBP1
CUI: C1269683
Disease:
Major Depressive Disorder
0.020 GeneticVariation BEFREE Haplotype analyses revealed a significant association with MDD (p=0.0007, protective A-C-T-A and A-C-C-C haplotypes), in particular the effect was due to the rs760761 (C/T) and rs2619522 (A/C) haplotype (p=0.000026). 17964051 2008