PBRM1, polybromo 1, 55193

N. diseases: 105; N. variants: 54
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs864321679
rs864321679
Entrez Id: 55193;440957
Gene Symbol: PBRM1;SMIM4
PBRM1;SMIM4
CUI: C0279702
Disease:
Conventional (Clear Cell) Renal Cell Carcinoma
C 0.700 CausalMutation CLINVAR
dbSNP: rs2251219
rs2251219
Entrez Id: 55193;440957
Gene Symbol: PBRM1;SMIM4
PBRM1;SMIM4
CUI: C0525045
Disease:
Mood Disorders
0.810 GeneticVariation GWASCAT We identified SNPs at 3p21.1 associated with major mood disorders (rs2251219, P = 3.63 x 10(-8); odds ratio = 0.87; 95% confidence interval, 0.83-0.92), with supportive evidence for association observed in two out of three independent replication cohorts. 20081856 2010
dbSNP: rs2251219
rs2251219
Entrez Id: 55193;440957
Gene Symbol: PBRM1;SMIM4
PBRM1;SMIM4
CUI: C0525045
Disease:
Mood Disorders
0.810 GeneticVariation GWASDB We identified SNPs at 3p21.1 associated with major mood disorders (rs2251219, P = 3.63 x 10(-8); odds ratio = 0.87; 95% confidence interval, 0.83-0.92), with supportive evidence for association observed in two out of three independent replication cohorts. 20081856 2010
dbSNP: rs2251219
rs2251219
Entrez Id: 55193;440957
Gene Symbol: PBRM1;SMIM4
PBRM1;SMIM4
CUI: C0525045
Disease:
Mood Disorders
0.810 GeneticVariation BEFREE We identified SNPs at 3p21.1 associated with major mood disorders (rs2251219, P = 3.63 x 10(-8); odds ratio = 0.87; 95% confidence interval, 0.83-0.92), with supportive evidence for association observed in two out of three independent replication cohorts. 20081856 2010
dbSNP: rs1108842
rs1108842
Entrez Id: 26354;55193
Gene Symbol: GNL3;PBRM1
GNL3;PBRM1
CUI: C2700366
Disease:
Adiponectin Measurement
C 0.800 GeneticVariation GWASCAT Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. 22479202 2012
dbSNP: rs1108842
rs1108842
Entrez Id: 26354;55193
Gene Symbol: GNL3;PBRM1
GNL3;PBRM1
CUI: C2700366
Disease:
Adiponectin Measurement
C 0.800 GeneticVariation GWASDB Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. 22479202 2012
dbSNP: rs11177
rs11177
Entrez Id: 26354;55193;692089;106633805
Gene Symbol: GNL3;PBRM1;SNORD19;SNORD136
GNL3;PBRM1;SNORD19;SNORD136
CUI: C0029408
Disease:
Degenerative polyarthritis
A 0.800 GeneticVariation GWASDB Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study. 22763110 2012
dbSNP: rs11177
rs11177
Entrez Id: 26354;55193;692089;106633805
Gene Symbol: GNL3;PBRM1;SNORD19;SNORD136
GNL3;PBRM1;SNORD19;SNORD136
CUI: C0029408
Disease:
Degenerative polyarthritis
A 0.800 GeneticVariation GWASCAT Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study. 22763110 2012
dbSNP: rs2590838
rs2590838
Entrez Id: 55193
Gene Symbol: PBRM1
PBRM1
CUI: C2700366
Disease:
Adiponectin Measurement
G 0.800 GeneticVariation GWASDB Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. 22479202 2012
dbSNP: rs2590838
rs2590838
Entrez Id: 55193
Gene Symbol: PBRM1
PBRM1
CUI: C2700366
Disease:
Adiponectin Measurement
G 0.800 GeneticVariation GWASCAT Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. 22479202 2012
dbSNP: rs2251219
rs2251219
Entrez Id: 55193;440957
Gene Symbol: PBRM1;SMIM4
PBRM1;SMIM4
CUI: C0005586
Disease:
Bipolar Disorder
0.720 GeneticVariation BEFREE There is strong evidence of association of rs2251219 with BP. 22560537 2012
dbSNP: rs2251219
rs2251219
Entrez Id: 55193;440957
Gene Symbol: PBRM1;SMIM4
PBRM1;SMIM4
CUI: C1269683
Disease:
Major Depressive Disorder
0.710 GeneticVariation BEFREE Suggestive but notable results were (a) gene-based tests suggesting roles for adenylate cyclase 3 (ADCY3, 2p23.3) and galanin (GAL, 11q13.3); published functional evidence relates both of these to MDD and serotonergic signaling; (b) support for the bipolar disorder risk variant SNP rs1006737 in CACNA1C (P=0.020, odds ratio=1.10); and (c) lack of support for rs2251219, a SNP identified in a meta-analysis of affective disorder studies (P=0.51). 21042317 2012
dbSNP: rs2251219
rs2251219
Entrez Id: 55193;440957
Gene Symbol: PBRM1;SMIM4
PBRM1;SMIM4
CUI: C2700438
Disease:
MAJOR AFFECTIVE DISORDER 7
0.010 GeneticVariation BEFREE There is strong evidence of association of rs2251219 with BP. 22560537 2012
dbSNP: rs2251219
rs2251219
Entrez Id: 55193;440957
Gene Symbol: PBRM1;SMIM4
PBRM1;SMIM4
CUI: C1839839
Disease:
MAJOR AFFECTIVE DISORDER 2
0.010 GeneticVariation BEFREE There is strong evidence of association of rs2251219 with BP. 22560537 2012
dbSNP: rs2251219
rs2251219
Entrez Id: 55193;440957
Gene Symbol: PBRM1;SMIM4
PBRM1;SMIM4
CUI: C2700440
Disease:
MAJOR AFFECTIVE DISORDER 9
0.010 GeneticVariation BEFREE There is strong evidence of association of rs2251219 with BP. 22560537 2012
dbSNP: rs2251219
rs2251219
Entrez Id: 55193;440957
Gene Symbol: PBRM1;SMIM4
PBRM1;SMIM4
CUI: C2700439
Disease:
MAJOR AFFECTIVE DISORDER 8
0.010 GeneticVariation BEFREE There is strong evidence of association of rs2251219 with BP. 22560537 2012
dbSNP: rs2251219
rs2251219
Entrez Id: 55193;440957
Gene Symbol: PBRM1;SMIM4
PBRM1;SMIM4
CUI: C1970943
Disease:
MAJOR AFFECTIVE DISORDER 4
0.010 GeneticVariation BEFREE There is strong evidence of association of rs2251219 with BP. 22560537 2012
dbSNP: rs2251219
rs2251219
Entrez Id: 55193;440957
Gene Symbol: PBRM1;SMIM4
PBRM1;SMIM4
CUI: C1970945
Disease:
MAJOR AFFECTIVE DISORDER 6
0.010 GeneticVariation BEFREE There is strong evidence of association of rs2251219 with BP. 22560537 2012
dbSNP: rs2251219
rs2251219
Entrez Id: 55193;440957
Gene Symbol: PBRM1;SMIM4
PBRM1;SMIM4
CUI: C1852197
Disease:
MAJOR AFFECTIVE DISORDER 1
0.010 GeneticVariation BEFREE There is strong evidence of association of rs2251219 with BP. 22560537 2012
dbSNP: rs2251219
rs2251219
Entrez Id: 55193;440957
Gene Symbol: PBRM1;SMIM4
PBRM1;SMIM4
CUI: C0005586
Disease:
Bipolar Disorder
0.720 GeneticVariation BEFREE The meta-analysis between the current and previous GWAS results showed that rs2251219 in Polybromo1 (PBRM1) was significant on genome-wide association level (P = 5×10(-8)) only for BD (P = 9.4×10(-9)) and psychosis (P = 2.0×10(-10)). 23967141 2013
dbSNP: rs2251219
rs2251219
Entrez Id: 55193;440957
Gene Symbol: PBRM1;SMIM4
PBRM1;SMIM4
CUI: C0005586
Disease:
Bipolar Disorder
0.720 GeneticVariation GWASDB Genome-wide association study meta-analysis of European and Asian-ancestry samples identifies three novel loci associated with bipolar disorder. 22182935 2013
dbSNP: rs2251219
rs2251219
Entrez Id: 55193;440957
Gene Symbol: PBRM1;SMIM4
PBRM1;SMIM4
CUI: C1269683
Disease:
Major Depressive Disorder
0.710 GeneticVariation GWASDB A mega-analysis of genome-wide association studies for major depressive disorder. 22472876 2013
dbSNP: rs10865974
rs10865974
Entrez Id: 26354;55193
Gene Symbol: GNL3;PBRM1
GNL3;PBRM1
CUI: C0005586
Disease:
Bipolar Disorder
0.700 GeneticVariation GWASDB Genome-wide association study meta-analysis of European and Asian-ancestry samples identifies three novel loci associated with bipolar disorder. 22182935 2013
dbSNP: rs10865974
rs10865974
Entrez Id: 26354;55193
Gene Symbol: GNL3;PBRM1
GNL3;PBRM1
CUI: C1269683
Disease:
Major Depressive Disorder
0.700 GeneticVariation GWASDB A mega-analysis of genome-wide association studies for major depressive disorder. 22472876 2013
dbSNP: rs11130310
rs11130310
Entrez Id: 55193
Gene Symbol: PBRM1
PBRM1
CUI: C1269683
Disease:
Major Depressive Disorder
0.700 GeneticVariation GWASDB A mega-analysis of genome-wide association studies for major depressive disorder. 22472876 2013