Data Sources

NCBI's public archive of variants and clinical significance interpretations. Every GeneGaze variant with a ClinVar VCV accession shows its current clinical significance, review status, and submitter evidence.

~100% of pathogenic / likely-pathogenic variants

Online Mendelian Inheritance in Man, the authoritative catalog of human genes and genetic disorders. Every gene in the GeneGaze database is cross-referenced with its OMIM entry and associated Mendelian phenotypes.

98.5% OMIM gene coverage across catalog

The Genome Aggregation Database from the Broad Institute. Global and ancestry-specific allele frequencies from over 800,000 exomes and genomes. Used to filter common benign variants and surface genuinely rare risk alleles.

Global + African + European + East Asian + South Asian + Latino

The Pharmacogenomics Knowledgebase. Clinically annotated gene-drug interactions with evidence levels 1A through 4. GeneGaze's Medications tab pulls directly from PharmGKB annotations and CPIC guidelines.

96 CPIC Level A gene-drug pairs (ASCPT 2025)

EBI's curated catalog of genome-wide association studies. Supplies effect sizes, p-values, and replicated associations for complex-trait variants that aren't in ClinVar.

400,000+ associations across 6,500+ traits

Google DeepMind's 2023 release scoring 71 million possible missense variants for pathogenicity, 89% classifiable as likely benign or likely pathogenic. Fills the interpretive gap for rare missense variants not yet in ClinVar. Cited as GeneGaze's single largest gap-filler.

71 million missense scores, all human protein-coding variation

Variant impact at the protein sequence, domain, and functional site level. Every GeneGaze gene links to its UniProt record for canonical sequence, post-translational modifications, and domain architecture.

20,000+ reviewed human protein records

Leiden Open Variation Databases, community-curated, gene-specific variation archives maintained by disease experts. Often contains rare Mendelian variants before they're submitted to ClinVar.

Gene-specific archives for rare Mendelian variants

The Weizmann Institute's integrated human disease compendium. Aggregates disease-gene-drug-pathway associations across 75+ sources into disease-centric cards. Used for cross-referencing condition synonyms and disease ontology.

22,000+ diseases across 75+ aggregated sources

Genomenon's AI-powered genomic literature database. Used to capture variants with published primary literature that haven't yet made it into ClinVar, critical for rare disease curation.

9M+ literature-mined variant-article mappings

Broad Institute deep-learning tool predicting splice-altering potential of any variant (0.0–1.0 delta score). GeneGaze flags splice region variants with SpliceAI δ ≥ 0.5 as likely splice-disrupting.

Splice-altering predictions across all human genes

NCBI's reference registry for rsIDs. Ensures every GeneGaze variant uses the current canonical rsID. Deprecated and merged entries are rejected at curation time (for example, rs1982073 resolves to rs1800470).

1 billion+ canonical rsID reference mappings

WHO's International Classification of Diseases. Every variant-linked condition carries its current ICD-10 (and where relevant ICD-11) code for interoperability with medical records.

Standard disease coding for EHR interoperability

The Clinical Pharmacogenetics Implementation Consortium. Published prescribing guidelines for Level A gene-drug pairs. Used alongside PharmGKB for the Medications tab.

Level A prescribing guidelines for 96 gene-drug pairs