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GWAS Catalog specifications


Unique identifier OMICS_07689
Name GWAS Catalog
Alternative names genome-wide association studies Catalog, The NHGRI GWAS Catalog, GWAS Catalogue
Restrictions to use None
Database management system MySQL
Community driven No
Data access File download, Browse
User data submission Not allowed
Maintained Yes


  • Primates
    • Homo sapiens



  • person_outline Helen Parkinson
  • person_outline The NHGRI GWAS Catalog Team

Additional information

Publications for genome-wide association studies Catalog

GWAS Catalog citations


Genome wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure

Nat Commun
PMCID: 5940788
PMID: 29739929
DOI: 10.1038/s41467-018-04086-y

[…] For UK Biobank, see For LD score regression, see For NHGRI-EBI GWAS catalogue, see For GWAS-PW, see For Power calculation, see, For SNAP, see http://ar […]


Time resolved transcriptome and proteome landscape of human regulatory T cell (Treg) differentiation reveals novel regulators of FOXP3

BMC Biol
PMCID: 5937035
PMID: 29730990
DOI: 10.1186/s12915-018-0518-3

[…] evant in disease pathways.Firstly, we tested whether any disease categories were enriched in our iTreg subnetwork as compared to the full network. Thus, we tested the genome-wide association studies (GWAS) catalog terms grouped by their disease ontology plus the additional Ai6 and Ai21 categories, which respectively include the GWAS genes for six common autoimmune diseases (multiple sclerosis (MS) […]


Characterization of the enhancer and promoter landscape of inflammatory bowel disease from human colon biopsies

Nat Commun
PMCID: 5916929
PMID: 29695774
DOI: 10.1038/s41467-018-03766-z

[…] A recent version of the GWAS catalog was downloaded (2016-12-15) and lifted to hg19 using the gwascat R-package ( To calculate linkage disequilibrium (LD), we used genotype data fro […]


Epigenome Wide Association Study of Soluble Tumor Necrosis Factor Receptor 2 Levels in the Framingham Heart Study

Front Pharmacol
PMCID: 5928448
PMID: 29740313
DOI: 10.3389/fphar.2018.00207

[…] ng correction. We then used FUMA () (v1.2.4) to examine whether CpG-related differentially expressed genes are enriched for specific diseases identified in genome-wide association studies (GWAS) from GWAS catalog version e85 (2016.09.27), restricting to at least three overlapping genes, and FDR multiple testing correction. […]


Genomic and transcriptomic comparison of allergen and silver nanoparticle induced mast cell degranulation reveals novel non immunoglobulin E mediated mechanisms

PLoS One
PMCID: 5863960
PMID: 29566008
DOI: 10.1371/journal.pone.0193499

[…] association mapping were–log10 transformed for graphic visualization.The UCSC Genome Browser ( was used to identify genes residing in the associated regions []. The NHGRI-EBI GWAS catalog ( was utilized to find any candidate genes that had been previously identified in human GWAS for allergic immune response traits (i.e. asthma, allergies, allerg […]


Systems Pharmacology Based Approach of Connecting Disease Genes in Genome Wide Association Studies with Traditional Chinese Medicine

Int J Genomics
PMCID: 5885494
PMID: 29765977
DOI: 10.1155/2018/7697356

[…] d differentially expressed gene analysis to define TCM-target genes. We constructed a drug-gene network based on the TCM-target genes. We downloaded candidate genes associated with GWAS diseases from GWAS catalog [] and constructed the GWAS disease-gene network for this study. By using a systems pharmacology-based analysis, we prioritized GWAS disease-TCM gene pairs from the two networks. We perfo […]


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GWAS Catalog institution(s)
European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK; Division of Genomic Medicine, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
GWAS Catalog funding source(s)
Supported by National Human Genome Research Institute, National Heart, Lung and Blood Institute; National Institutes of Health Common Fund [U54-HG004028, U41-HG006104, U41-HG007823]; European Molecular Biology Laboratory.

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