Source data
Name Version Url
NCBI Gene Info 20180727 ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/gene_info.gz
GenCode Transcript (hg19 overlifted) 28 https://www.gencodegenes.org
GenCode Transcript 28 https://www.gencodegenes.org
Gencode transcript metadata 28 https://www.gencodegenes.org/releases/current.html
Disease Ontology 20180620 https://sourceforge.net/p/diseaseontology/code/HEAD/tree/trunk/HumanDO.obo?format=raw
ClinVar
CIViC Variant Summaries 20180727-nightly
CIViC Evidence 20180727-nightly
dbSNP VCF b150
HGVD 2.30 http://www.hgvd.genome.med.kyoto-u.ac.jp/HGVD1210-V2_30-dbSNP150.tar.gz
ToMMo SNP 1 http://humandbs.biosciencedbc.jp/files/hum0015/hum0015.v1.freq.v1.zip
Cosmic Occurrence 84
ExAC 1 ftp://ftp.broadinstitute.org/pub/ExAC_release/release1/ExAC.r1.sites.vep.vcf.gz
Clinical Trials 201706 https://www.ctti-clinicaltrials.org/aact-database
Drug list of Screening Committee of Anticancer Drugs 20160209 https://scads.jfcr.or.jp/db/table.html
Human Phenotype Ontology 2018-07-25 https://hpo.jax.org
DisGeNET 4.0 http://www.disgenet.org/web/DisGeNET/menu
GWAS EFO Mapping 20180829 ftp://ftp.ebi.ac.uk/pub/databases/gwas/releases/2018/08/29/gwas-efo-trait-mappings.tsv
GWAS Catalog 20180829 ftp://ftp.ebi.ac.uk/pub/databases/gwas/releases/2018/08/29/gwas-catalog-associations.tsv
dbSNP VCF b150
MMMP 20160818 http://www.mmmp.org/mmmpFile/TargetedTherapyDatabase_TTD3_published.xls
MSS TSG/Oncogene List 1.01
OMIM 20180523
OrphaNet V2.6 https://www.orpha.net/
MedGen Concept name 20180516
Insert disease from ICD10
MeSH (Medical Subject Headings) 20180711 https://www.ncbi.nlm.nih.gov/mesh