DisGeNET - a database of gene-disease associations

PBX2, PBX homeobox 2, 5089

N. diseases: 29; N. variants: 15

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs176095

Entrez Id:	5089;63940
Gene Symbol:	PBX2;GPSM3

PBX2;GPSM3

CUI:	C0011615
Disease:

Dermatitis, Atopic

0.800

GeneticVariation

GWASCAT

Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms.

25574825

2015

dbSNP:

rs176095

Entrez Id:	5089;63940
Gene Symbol:	PBX2;GPSM3

PBX2;GPSM3

CUI:	C0011615
Disease:

Dermatitis, Atopic

0.800

GeneticVariation

GWASDB

Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.

23042114

2012

dbSNP:

rs176095

Entrez Id:	5089;63940
Gene Symbol:	PBX2;GPSM3

PBX2;GPSM3

CUI:	C0011615
Disease:

Dermatitis, Atopic

0.800

GeneticVariation

GWASCAT

Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.

23042114

2012

dbSNP:

rs204993

Entrez Id:	5089
Gene Symbol:	PBX2

PBX2

CUI:	C0004096
Disease:

Asthma

0.800

GeneticVariation

GWASCAT

Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.

21804548

2011

dbSNP:

rs204993

Entrez Id:	5089
Gene Symbol:	PBX2

PBX2

CUI:	C0004096
Disease:

Asthma

0.800

GeneticVariation

GWASDB

Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.

21804548

2011

dbSNP:

rs1800625

Entrez Id:	177;5089
Gene Symbol:	AGER;PBX2

AGER;PBX2

CUI:	C0006826
Disease:

Malignant Neoplasms

0.720

GeneticVariation

BEFREE

CONCLUSIONS In conclusion, the RAGE rs1800625 polymorphism was associated with increased overall cancer risk in Asians in recessive genetic model.

31534114

2019

dbSNP:

rs1800625

Entrez Id:	177;5089
Gene Symbol:	AGER;PBX2

AGER;PBX2

CUI:	C0006826
Disease:

Malignant Neoplasms

0.720

GeneticVariation

GWASCAT

HLA-B*57:01 Confers Susceptibility to Pazopanib-Associated Liver Injury in Patients with Cancer.

26546620

2016

dbSNP:

rs1800625

Entrez Id:	177;5089
Gene Symbol:	AGER;PBX2

AGER;PBX2

CUI:	C0006826
Disease:

Malignant Neoplasms

0.720

GeneticVariation

BEFREE

Therefore, we performed a systematic review to identify statistical evidence of the association between the 3 polymorphisms rs2070600 G/S (82G>S), rs1800624 T/A ( -374 T>A) and rs1800625C/T (-429 C>T) and the risk of cancer.

26011358

2015

dbSNP:

rs1800625

Entrez Id:	177;5089
Gene Symbol:	AGER;PBX2

AGER;PBX2

CUI:	C0006826
Disease:

Malignant Neoplasms

0.720

GeneticVariation

BEFREE

We failed to get an effective conclusion about the association between the rs1800624 and rs1800625 polymorphisms and cancer risk in overall comparison.

26011358

2015

dbSNP:

rs3134605

Entrez Id:	5089;63940
Gene Symbol:	PBX2;GPSM3

PBX2;GPSM3

CUI:	C0017654
Disease:

Glomerular Filtration Rate

0.700

GeneticVariation

GWASCAT

A catalog of genetic loci associated with kidney function from analyses of a million individuals.

31152163

2019

dbSNP:

rs169504

Entrez Id:	177;5089
Gene Symbol:	AGER;PBX2

AGER;PBX2

CUI:	C4049938
Disease:

Physical Activity Measurement

0.700

GeneticVariation

GWASCAT

Genome-wide association study of habitual physical activity in over 377,000 UK Biobank participants identifies multiple variants including CADM2 and APOE.

29899525

2018

dbSNP:

rs114810457

Entrez Id:	5089
Gene Symbol:	PBX2

PBX2

CUI:	C0008074
Disease:

Child Development Disorders, Pervasive

0.700

GeneticVariation

GWASCAT

Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.

28540026

2017

dbSNP:

rs114810457

Entrez Id:	5089
Gene Symbol:	PBX2

PBX2

CUI:	C0036341
Disease:

Schizophrenia

0.700

GeneticVariation

GWASCAT

Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.

28540026

2017

dbSNP:

rs140865314

Entrez Id:	177;5089
Gene Symbol:	AGER;PBX2

AGER;PBX2

CUI:	C0036341
Disease:

Schizophrenia

0.700

GeneticVariation

GWASCAT

Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.

28540026

2017

dbSNP:

rs140865314

Entrez Id:	177;5089
Gene Symbol:	AGER;PBX2

AGER;PBX2

CUI:	C0008074
Disease:

Child Development Disorders, Pervasive

0.700

GeneticVariation

GWASCAT

Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.

28540026

2017

dbSNP:

rs146827975

Entrez Id:	177;5089
Gene Symbol:	AGER;PBX2

AGER;PBX2

CUI:	C0008074
Disease:

Child Development Disorders, Pervasive

0.700

GeneticVariation

GWASCAT

Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.

28540026

2017

dbSNP:

rs146827975

Entrez Id:	177;5089
Gene Symbol:	AGER;PBX2

AGER;PBX2

CUI:	C0036341
Disease:

Schizophrenia

0.700

GeneticVariation

GWASCAT

Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.

28540026

2017

dbSNP:

rs114254831

Entrez Id:	5089
Gene Symbol:	PBX2

PBX2

CUI:	C2237660
Disease:

exudative macular degeneration

0.700

GeneticVariation

GWASCAT

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

26691988

2016

dbSNP:

rs114254831

Entrez Id:	5089
Gene Symbol:	PBX2

PBX2

CUI:	C1536085
Disease:

Geographic Atrophy

0.700

GeneticVariation

GWASCAT

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

26691988

2016

dbSNP:

rs114254831

Entrez Id:	5089
Gene Symbol:	PBX2

PBX2

CUI:	C0242383
Disease:

Age related macular degeneration

0.700

GeneticVariation

GWASCAT

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

26691988

2016

dbSNP:

rs114254831

Entrez Id:	5089
Gene Symbol:	PBX2

PBX2

CUI:	C0271084
Disease:

Exudative age-related macular degeneration

0.700

GeneticVariation

GWASCAT

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

26691988

2016

dbSNP:

rs1800625

Entrez Id:	177;5089
Gene Symbol:	AGER;PBX2

AGER;PBX2

CUI:	C0272178
Disease:

Drug-induced neutropenia

0.700

GeneticVariation

GWASCAT

Pharmacogenomic Study of Clozapine-Induced AgranulocytosisGranulocytopenia in a Japanese Population.

26876947

2016

dbSNP:

rs1800625

Entrez Id:	177;5089
Gene Symbol:	AGER;PBX2

AGER;PBX2

CUI:	C0201836
Disease:

Alanine aminotransferase measurement

0.700

GeneticVariation

GWASCAT

HLA-B*57:01 Confers Susceptibility to Pazopanib-Associated Liver Injury in Patients with Cancer.

26546620

2016

dbSNP:

rs1800625

Entrez Id:	177;5089
Gene Symbol:	AGER;PBX2

AGER;PBX2

CUI:	C1883008
Disease:

Serum Alanine Aminotransferase Measurement

0.700

GeneticVariation

GWASCAT

HLA-B*57:01 Confers Susceptibility to Pazopanib-Associated Liver Injury in Patients with Cancer.

26546620

2016

dbSNP:

rs204994

Entrez Id:	5089
Gene Symbol:	PBX2

PBX2

CUI:	C0024141
Disease:

Lupus Erythematosus, Systemic

0.700

GeneticVariation

GWASDB

GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.

24871463

2014