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: 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 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: 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 GWASDB A mega-analysis of genome-wide association studies for major depressive disorder. 22472876 2013
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: rs10933
rs10933
Entrez Id: 26354;55193
Gene Symbol: GNL3;PBRM1
GNL3;PBRM1
CUI: C0205682
Disease:
Waist-Hip Ratio
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1108842
rs1108842
Entrez Id: 26354;55193
Gene Symbol: GNL3;PBRM1
GNL3;PBRM1
CUI: C0021704
Disease:
Intelligence
A 0.700 GeneticVariation GWASCAT A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence. 29326435 2019
dbSNP: rs2577831
rs2577831
Entrez Id: 55193
Gene Symbol: PBRM1
PBRM1
CUI: C0036341
Disease:
Schizophrenia
C 0.700 GeneticVariation GWASCAT Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect. 30285260 2019
dbSNP: rs2577831
rs2577831
Entrez Id: 55193
Gene Symbol: PBRM1
PBRM1
CUI: C0014772
Disease:
Red Blood Cell Count measurement
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2577831
rs2577831
Entrez Id: 55193
Gene Symbol: PBRM1
PBRM1
CUI: C0036341
Disease:
Schizophrenia
A 0.700 GeneticVariation GWASCAT Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect. 30285260 2019
dbSNP: rs2878628
rs2878628
Entrez Id: 55193;440957
Gene Symbol: PBRM1;SMIM4
PBRM1;SMIM4
CUI: C0021704
Disease:
Intelligence
A 0.700 GeneticVariation GWASCAT A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence. 29326435 2019
dbSNP: rs565817433
rs565817433
Entrez Id: 26354;55193
Gene Symbol: GNL3;PBRM1
GNL3;PBRM1
CUI: C0424621
Disease:
Body Fat Distribution
C 0.700 GeneticVariation GWASCAT Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects. 30664634 2019
dbSNP: rs11177
rs11177
Entrez Id: 26354;55193;692089;106633805
Gene Symbol: GNL3;PBRM1;SNORD19;SNORD136
GNL3;PBRM1;SNORD19;SNORD136
CUI: C0029410
Disease:
Osteoarthritis of hip
A 0.700 GeneticVariation GWASCAT Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis. 30374069 2018
dbSNP: rs12493107
rs12493107
Entrez Id: 55193
Gene Symbol: PBRM1
PBRM1
CUI: C2985280
Disease:
Blood Protein Measurement
T 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs2276824
rs2276824
Entrez Id: 55193
Gene Symbol: PBRM1
PBRM1
CUI: C0205682
Disease:
Waist-Hip Ratio
C 0.700 GeneticVariation GWASCAT Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors. 30575882 2018
dbSNP: rs2590838
rs2590838
Entrez Id: 55193
Gene Symbol: PBRM1
PBRM1
CUI: C1305855
Disease:
Body mass index
G 0.700 GeneticVariation GWASCAT A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci. 30108127 2018