Table 1.

Selected databases and resources for variant interpretation in the context of biological interactions

Database	Data	Web address
Variant databases
1000 Genomes	Whole genome and variants of >2,500 individuals	http://www.internationalgenome.org
ClinVar	Human variants with clinical significance	https://www.ncbi.nlm.nih.gov/clinvar
COSMIC	Catalog of somatic mutations in cancer	https://cancer.sanger.ac.uk/cosmic
dbSNP	Small variants from several organisms	https://www.ncbi.nlm.nih.gov/snp
GWAS catalog	Disease‐associated variants from published GWAS	https://www.ebi.ac.uk/gwas
SwissVar	Annotated single amino acid variants	https://swissvar.expasy.org
Network resources
BioPlex	Human PPIs from AP‐MS	http://bioplex.hms.harvard.edu
HuRI	Human PPIs from Y2H	http://interactome.baderlab.org/
IntAct	Manually curated PPIs from literature	https://www.ebi.ac.uk/intact
iRefIndex	Integration of PPIs from many databases	http://irefindex.org
KEGG	Reference database for biochemical pathways	https://www.genome.jp/kegg
NDEx	Platform for sharing and analyzing biological networks	http://www.ndexbio.org
Pathway Commons	Human PPIs and pathways from different sources	http://www.pathwaycommons.org
Reactome	Integration of PPIs and pathways from many databases	https://reactome.org
STRING	Experimental and predicted PPIs	https://string‐db.org
Disease/phenotype association and classification
CTD	Curated gene and chemical‐phenotype associations	http://ctdbase.org
Disease ontology	Hierarchical ontology for description of diseases.	http://disease‐ontology.org
DisGeNet	Resource of variant and gene association to disease	http://www.disgenet.org
dSysMap	Maps of disease mutations on the structural interactome	https://dsysmap.irbbarcelona.org
HPO	Ontology for the description of phenotypic abnormalities	https://hpo.jax.org
OMIM	Database of genes implicated in Mendelian disorders	https://omim.org

Note. AP‐MS: affinity purification‐mass spectroscopy; PPI: protein–protein interaction; Y2H: yeast two‐hybrid.