PBX1, PBX homeobox 1, 5087

N. diseases: 167; N. variants: 14
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2275558
rs2275558
Entrez Id: 5087
Gene Symbol: PBX1
PBX1
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2275560
rs2275560
Entrez Id: 5087
Gene Symbol: PBX1
PBX1
CUI: C0205682
Disease:
Waist-Hip Ratio 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2279469
rs2279469
Entrez Id: 5087;100505795
Gene Symbol: PBX1;PBX1-AS1
PBX1;PBX1-AS1
CUI: C0205682
Disease:
Waist-Hip Ratio 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2800778
rs2800778
Entrez Id: 5087
Gene Symbol: PBX1
PBX1
CUI: C1836231
Disease:
HIV-1, RESISTANCE TO 		T 0.700 GeneticVariation GWASCAT Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial. 31219150 2019
dbSNP: rs2800778
rs2800778
Entrez Id: 5087
Gene Symbol: PBX1
PBX1
CUI: C1836232
Disease:
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		T 0.700 GeneticVariation GWASCAT Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial. 31219150 2019
dbSNP: rs2800778
rs2800778
Entrez Id: 5087
Gene Symbol: PBX1
PBX1
CUI: C1836233
Disease:
AIDS, PROGRESSION TO 		T 0.700 GeneticVariation GWASCAT Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial. 31219150 2019
dbSNP: rs2800778
rs2800778
Entrez Id: 5087
Gene Symbol: PBX1
PBX1
CUI: C1836230
Disease:
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		T 0.700 GeneticVariation GWASCAT Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial. 31219150 2019
dbSNP: rs2800778
rs2800778
Entrez Id: 5087
Gene Symbol: PBX1
PBX1
CUI: C0376705
Disease:
Viral Load result 		T 0.700 GeneticVariation GWASCAT Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial. 31219150 2019
dbSNP: rs2171690
rs2171690
Entrez Id: 5087;100505795
Gene Symbol: PBX1;PBX1-AS1
PBX1;PBX1-AS1
CUI: C0428883
Disease:
Diastolic blood pressure 		T 0.700 GeneticVariation GWASCAT Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. 30224653 2018
dbSNP: rs3753900
rs3753900
Entrez Id: 5087
Gene Symbol: PBX1
PBX1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs3767369
rs3767369
Entrez Id: 5087
Gene Symbol: PBX1
PBX1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		T 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs3767369
rs3767369
Entrez Id: 5087
Gene Symbol: PBX1
PBX1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs4657374
rs4657374
Entrez Id: 5087
Gene Symbol: PBX1
PBX1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs1553247020
rs1553247020
Entrez Id: 5087
Gene Symbol: PBX1
PBX1
CUI: C4539968
Disease:
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1553247028
rs1553247028
Entrez Id: 5087
Gene Symbol: PBX1
PBX1
CUI: C4539968
Disease:
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1553248075
rs1553248075
Entrez Id: 5087
Gene Symbol: PBX1
PBX1
CUI: C4539968
Disease:
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1553248112
rs1553248112
Entrez Id: 5087
Gene Symbol: PBX1
PBX1
CUI: C4539968
Disease:
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1558020021
rs1558020021
Entrez Id: 5087
Gene Symbol: PBX1
PBX1
CUI: C4539968
Disease:
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs2275558
rs2275558
Entrez Id: 5087
Gene Symbol: PBX1
PBX1
CUI: C1698581
Disease:
Rokitansky Kuster Hauser syndrome 		0.010 GeneticVariation BEFREE The dominant models of rs34072914 and rs2275558 in WNT9B and PBX1, respectively, were significantly associated with MRKH syndrome risk in the Chinese Han patients. 26075712 2015
dbSNP: rs2275558
rs2275558
Entrez Id: 5087
Gene Symbol: PBX1
PBX1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 GeneticVariation BEFREE Several PBX1 SNPs, including the G21S coding SNP rs2275558, were nominally associated with type 2 diabetes but the strongest result was obtained with the intron 2 SNP rs2792248 (P = 0.004, OR 1.20 [95% CI 1.06-1.37]). 18312624 2008
dbSNP: rs2792248
rs2792248
Entrez Id: 5087
Gene Symbol: PBX1
PBX1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 GeneticVariation BEFREE Several PBX1 SNPs, including the G21S coding SNP rs2275558, were nominally associated with type 2 diabetes but the strongest result was obtained with the intron 2 SNP rs2792248 (P = 0.004, OR 1.20 [95% CI 1.06-1.37]). 18312624 2008
dbSNP: rs2275558
rs2275558
Entrez Id: 5087
Gene Symbol: PBX1
PBX1
CUI: C0011847
Disease:
Diabetes 		0.010 GeneticVariation BEFREE Additionally, three variants including G21S (61 bp) and the diabetes associated SNP at 78287 were significant determinants of insulin sensitivity (S(I)) in interaction with body mass index (p<0.02). 16140554 2005
dbSNP: rs2275558
rs2275558
Entrez Id: 5087
Gene Symbol: PBX1
PBX1
CUI: C0011849
Disease:
Diabetes Mellitus 		0.010 GeneticVariation BEFREE Additionally, three variants including G21S (61 bp) and the diabetes associated SNP at 78287 were significant determinants of insulin sensitivity (S(I)) in interaction with body mass index (p<0.02). 16140554 2005