Disease and phenotype databases

OMIM: http://www.omim.org

ClinVar: http://www.ncbi.nlm.nih.gov/clinvar

NHGRI-EBI GWAS Catalog: https://www.ebi.ac.uk/gwas/

Orphanet: http://www.orpha.net/

MGI: http://www.informatics.jax.org/

HPO: http://www.human-phenotype-ontology.org/

DisGeNET: http://www.disgenet.org/web/DisGeNET/

SwissVar: http://swissvar.expasy.org/

Gene function annotation resources

GO terms: http://geneontology.org/page/go-database

KEGG pathways: http://www.genome.jp/kegg/pathway.html

BioCarta pathways: http://www.biocarta.com/

Protein interactions: http://thebiogrid.org/

Gene co-expression: http://coxpresdb.jp/

Protein complex: http://mips.helmholtz-muenchen.de/genre/proj/corum/

Sequence variants annotation databases and tools

dbNSFP: http://sites.google.com/site/jpopgen/dbNSFP

wANNOVAR: http://wannovar.usc.edu/

snpEFF: http://snpeff.sourceforge.net/SnpEff_manual.html

SeattleSeq: http://snp.gs.washington.edu/SeattleSeqAnnotation141/

NGS sequence variants analysis tools

BiERapp: http://bierapp.babelomics.org/

Phen-Gen: http://phen-gen.org/

eXtasy: http://extasy.esat.kuleuven.be/

Tute Genomics: http://www.tutegenomics.com/

KGGSeq: http://statgenpro.psychiatry.hku.hk/limx/kggseq/

VAAST: http://www.yandell-lab.org/software/vaast.html

gNOME: http://gnome.tchlab.org/

VarioWatch: http://genepipe.ncgm.sinica.edu.tw/variowatch/main.do

SeqAnt: http://seqant.genetics.emory.edu

VAT: http://vat.gersteinlab.org/

SNPnexus: http://www.snp-nexus.org/about.html

VarSifter: http://research.nhgri.nih.gov/software/VarSifter/

EVA: http://plateforme-genomique-irib.univ-rouen.fr/EVA

Clinical interpretation resources

ACMG: https://www.acmg.net/