Table 1 Data sources

NIGHRI-EBI GWAS Catalog

2016

07/10/2016

https://www.ebi.ac.uk/gwas/docs/file-downloads

Disease-to-SNP associations derived from GWAS

EMBL-EBI EFO

2016

07/10/2016

https://bioportal.bioontology.org/ontologies/EFO

Disease branches

GTEx

V6

05/04/2017

http://networkmedicine.org:3838/eqtl/

SNP-to-eQTL_RNA relations derived from eQTL studing associating SNPs to the regulated targets (RNAs)

dbSNP

142

08/25/2016

ftp://ftp.ncbi.nlm.nih.gov/snp/organisms/human_9606/ ASN1_flat/

SNP host gene or intergenic SNPs

HCUP

2013

09/01/2016

https://www.distributor.hcup-us.ahrq.gov/

Disease-patient relations

SNOMED

Sep. 2015

11/2015

https://www.nlm.nih.gov/healthit/snomedct/us_edition.html

Disease SNOMED-CT IDs

UMLS

2015AA

07/09/2015

https://www.nlm.nih.gov/research/umls/licensedcontent/umlsarchives04.html

Disease UMLS IDs

HapMap LD

2009

10/11/2010

ftp://ftp.ncbi.nlm.nih.gov/hapmap/ld_data/

Linkage disequilibrium data

1000 Genome

2014

11/14/2014

ftp://ftp.1000genomes.ebi.ac.uk/vol1/ftp/release/20130502/

Linkage disequilibrium r^2