Variant interpretation, population frequencies, gene–disease curation and phenotype annotation. The reference layer beneath every modern diagnostic and disease-gene-discovery pipeline.
NCBI's public archive of reported associations between human variants and phenotypes. Aggregates submissions from clinical labs, expert panels and researchers, with conflict-tracking and review status — the dominant resource for clinically interpreted variants.
Catalogues published germline mutations causing or associated with inherited disease in humans. The public version is older and limited, but the professional version is widely used by diagnostic labs.
NCBI's controlled-access repository for results of studies investigating the interaction of genotype and phenotype, including GWAS, sequencing studies and disease cohorts. Access to individual-level data requires data-access committee approval.
Curates published genome-wide association studies and their SNP–trait associations across thousands of diseases and traits. The standard reference for common-variant disease genetics.
One of the largest gene–disease association resources, DisGeNET integrates curated databases (UniProt, ClinVar, Orphanet, CTD, PsyGeNET and others) with text-mined literature, providing hundreds of thousands of gene–disease and variant–disease associations annotated with evidence-based scores.
Builds authoritative, expert-curated knowledge about clinical relevance of genes and variants — gene–disease validity, dosage sensitivity and actionability. Works closely with ClinVar and is increasingly the canonical reference for clinical-grade gene–disease curation.
A consortium aggregating gene–disease validity assertions from leading curation efforts (ClinGen, DECIPHER, Orphanet, Genomics England PanelApp and others) into a single harmonised view.
A standardised vocabulary of phenotypic abnormalities encountered in human disease, with extensive annotations linking thousands of diseases — especially rare and Mendelian — to their characteristic phenotypes. Used worldwide in clinical genetics and diagnostic pipelines.
A Sanger-Wellcome–hosted database of submitted patient cases with rare genomic variants (CNVs and sequence variants) plus associated phenotypes — used by clinical geneticists for variant interpretation and cohort matchmaking across centres.
A platform hosting hundreds of locus- or gene-specific variant databases, allowing curators to share variants and phenotypes for individual genes implicated in disease.
A specialised database of human mitochondrial DNA variation and disease associations, maintained as a community reference for mitochondrial disorders.
Stanford-led resource curating pharmacogenomic relationships between genes, variants, drugs and diseases, including dosing guidelines from CPIC and others. Central to precision-medicine work on adverse drug reactions and treatment response.
gnomAD aggregates exome and genome sequencing from 800,000+ unrelated individuals, providing allele frequencies and gene-level constraint metrics indispensable when filtering candidate disease variants. The earlier 1000 Genomes Project provided foundational diversity data still cited in disease genetics.