DisGeNET - a database of gene-disease associations

HLA-DQB1, major histocompatibility complex, class II, DQ beta 1, 3119

N. diseases: 504; N. variants: 43

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:

rs3828805

Entrez Id:	3119
Gene Symbol:	HLA-DQB1

HLA-DQB1

CUI:	C0031347
Disease:

Pharyngeal Neoplasms

0.700

GeneticVariation

GWASCAT

Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.

27749845

2016

dbSNP:

rs3828805

Entrez Id:	3119
Gene Symbol:	HLA-DQB1

HLA-DQB1

CUI:	C0153369
Disease:

Malignant neoplasm of anterior portion of floor of mouth

0.700

GeneticVariation

GWASCAT

Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.

27749845

2016

dbSNP:

rs3828805

Entrez Id:	3119
Gene Symbol:	HLA-DQB1

HLA-DQB1

CUI:	C0153389
Disease:

malignant neoplasm of lateral wall of oropharynx

0.700

GeneticVariation

GWASCAT

Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.

27749845

2016

dbSNP:

rs3828805

Entrez Id:	3119
Gene Symbol:	HLA-DQB1

HLA-DQB1

CUI:	C3165521
Disease:

Primary malignant neoplasm of lateral wall of oropharynx

0.700

GeneticVariation

GWASCAT

Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.

27749845

2016

dbSNP:

rs3828805

Entrez Id:	3119
Gene Symbol:	HLA-DQB1

HLA-DQB1

CUI:	C0153382
Disease:

Malignant neoplasm of oropharynx

0.700

GeneticVariation

GWASCAT

Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.

27749845

2016

dbSNP:

rs3828805

Entrez Id:	3119
Gene Symbol:	HLA-DQB1

HLA-DQB1

CUI:	C0153380
Disease:

Malignant neoplasm of other specified parts of mouth

0.700

GeneticVariation

GWASCAT

Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.

27749845

2016

dbSNP:

rs3828805

Entrez Id:	3119
Gene Symbol:	HLA-DQB1

HLA-DQB1

CUI:	C0153407
Disease:

Malignant neoplasm of other sites within the lip and oral cavity

0.700

GeneticVariation

GWASCAT

Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.

27749845

2016

dbSNP:

rs3828805

Entrez Id:	3119
Gene Symbol:	HLA-DQB1

HLA-DQB1

CUI:	C2349952
Disease:

Oropharyngeal Carcinoma

0.700

GeneticVariation

GWASCAT

Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.

27749845

2016

dbSNP:

rs3828805

Entrez Id:	3119
Gene Symbol:	HLA-DQB1

HLA-DQB1

CUI:	C0496758
Disease:

Malignant neoplasm of lateral floor of mouth

0.700

GeneticVariation

GWASCAT

Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.

27749845

2016

dbSNP:

rs3828805

Entrez Id:	3119
Gene Symbol:	HLA-DQB1

HLA-DQB1

CUI:	C0153381
Disease:

Malignant neoplasm of mouth

0.700

GeneticVariation

GWASCAT

Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.

27749845

2016

dbSNP:

rs3828805

Entrez Id:	3119
Gene Symbol:	HLA-DQB1

HLA-DQB1

CUI:	C0153390
Disease:

Malignant neoplasm of posterior wall of oropharynx

0.700

GeneticVariation

GWASCAT

Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.

27749845

2016

dbSNP:

rs3828805

Entrez Id:	3119
Gene Symbol:	HLA-DQB1

HLA-DQB1

CUI:	C0153368
Disease:

Malignant neoplasm of floor of mouth

0.700

GeneticVariation

GWASCAT

Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.

27749845

2016

dbSNP:

rs77296290

Entrez Id:	3119
Gene Symbol:	HLA-DQB1

HLA-DQB1

CUI:	C0036341
Disease:

Schizophrenia

0.700

GeneticVariation

GWASCAT

Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect.

30285260

2019

dbSNP:

rs2515895

Entrez Id:	3119;106480429
Gene Symbol:	HLA-DQB1;HLA-DQB1-AS1

HLA-DQB1;HLA-DQB1-AS1

CUI:	C0036202
Disease:

Sarcoidosis

0.700

GeneticVariation

GWASDB

Genome-wide association study of African and European Americans implicates multiple shared and ethnic specific loci in sarcoidosis susceptibility.

22952805

2012

dbSNP:

rs2854272

Entrez Id:	3119
Gene Symbol:	HLA-DQB1

HLA-DQB1

CUI:	C0036202
Disease:

Sarcoidosis

0.700

GeneticVariation

GWASDB

Genome-wide association study of African and European Americans implicates multiple shared and ethnic specific loci in sarcoidosis susceptibility.

22952805

2012

dbSNP:

rs4988888

Entrez Id:	3119
Gene Symbol:	HLA-DQB1

HLA-DQB1

CUI:	C0036202
Disease:

Sarcoidosis

0.700

GeneticVariation

GWASDB

Genome-wide association study of African and European Americans implicates multiple shared and ethnic specific loci in sarcoidosis susceptibility.

22952805

2012

dbSNP:

rs9282114

Entrez Id:	3119
Gene Symbol:	HLA-DQB1

HLA-DQB1

CUI:	C0036202
Disease:

Sarcoidosis

0.700

GeneticVariation

GWASDB

Genome-wide association study of African and European Americans implicates multiple shared and ethnic specific loci in sarcoidosis susceptibility.

22952805

2012

dbSNP:

rs2854277

Entrez Id:	3119;106480429
Gene Symbol:	HLA-DQB1;HLA-DQB1-AS1

HLA-DQB1;HLA-DQB1-AS1

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:

rs142471762

Entrez Id:	3119
Gene Symbol:	HLA-DQB1

HLA-DQB1

CUI:	C1318312
Disease:

Serum iron measurement

AATATTAGG

0.700

GeneticVariation

GWASCAT

Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation?

28334935

2017

dbSNP:

rs4642515

Entrez Id:	3119
Gene Symbol:	HLA-DQB1

HLA-DQB1

CUI:	C1277709
Disease:

Transferrin saturation measurement

0.700

GeneticVariation

GWASCAT

28334935

2017

dbSNP:

rs9274623

Entrez Id:	3119
Gene Symbol:	HLA-DQB1

HLA-DQB1

CUI:	C0036341
Disease:

Schizophrenia

0.700

GeneticVariation

GWASCAT

Genome-wide association study of schizophrenia in Ashkenazi Jews.

26198764

2015

dbSNP:

rs281862010

Entrez Id:	3119
Gene Symbol:	HLA-DQB1

HLA-DQB1

CUI:	C2985280
Disease:

Blood Protein Measurement

0.700

GeneticVariation

GWASCAT

Genomic atlas of the human plasma proteome.

29875488

2018

dbSNP:

rs4713572

Entrez Id:	3119;106480429
Gene Symbol:	HLA-DQB1;HLA-DQB1-AS1

HLA-DQB1;HLA-DQB1-AS1

CUI:	C2985280
Disease:

Blood Protein Measurement

0.700

GeneticVariation

GWASCAT

Genomic atlas of the human plasma proteome.

29875488

2018

dbSNP:

rs9273552

Entrez Id:	3119;106480429
Gene Symbol:	HLA-DQB1;HLA-DQB1-AS1

HLA-DQB1;HLA-DQB1-AS1

CUI:	C2985280
Disease:

Blood Protein Measurement

0.700

GeneticVariation

GWASCAT

Genomic atlas of the human plasma proteome.

29875488

2018

dbSNP:

rs1063348

Entrez Id:	3119;106480429
Gene Symbol:	HLA-DQB1;HLA-DQB1-AS1

HLA-DQB1;HLA-DQB1-AS1

CUI:	C0403396
Disease:

Steroid-sensitive nephrotic syndrome

0.010

GeneticVariation

BEFREE

Increased burden of risk alleles across independent loci was associated with higher odds of SSNS, with younger age of onset across all cohorts, and with increased odds of complete remission across histologies in NEPTUNE children. rs1063348 associated with decreased glomerular expression of HLA-DRB1, HLA-DRB5, and HLA-DQB1.<b>Conclusions</b> Transethnic GWAS empowered discovery of three independent risk SNPs for pediatric SSNS.

29903748

2018