This article was accepted into the corpus but its outbound wikilinks were never NER-processed — typical at the deepest BFS hop or when the run's entity cap was reached. No expansion funnel to show.
| GeneCards | |
|---|---|
| Name | GeneCards |
| Type | Database |
| Subject | Human genes |
| Owner | Crown Human Genome Center |
| Country | Israel |
GeneCards
GeneCards is an integrated database that provides concise genomic, proteomic, transcriptomic, and functional information about human genes. It serves researchers by aggregating annotations from multiple biomedical resources and delivering gene-centric summaries to support studies in genetics, genomics, oncology, and pharmacology. The platform is maintained by a team affiliated with academic and research institutions and interfaces with widely used bioinformatics tools.
GeneCards presents curated gene-centric pages that summarize data on gene symbols, aliases, chromosomal locations, protein products, expression profiles, pathways, diseases, and orthologs. Intended for use by investigators in molecular biology, clinical genetics, biotechnology companies, and translational research centers, the resource integrates annotations from genomic consortia and specialist repositories. The interface supports queries by gene name, genomic coordinates, variant identifiers, and disease terms, enabling cross-references to external databases and clinical vocabularies.
The database aggregates content from major biomedical and genomic resources including Ensembl, NCBI Gene, UniProt, RefSeq, HGNC, OMIM, ClinVar, Gene Ontology, KEGG, Reactome, and BioGRID. It incorporates expression data from projects such as GTEx and proteomics repositories like PRIDE. Variant pathogenicity and clinical annotations are cross-referenced with ClinVar and population datasets from 1000 Genomes Project and gnomAD. Literature-mined associations derive from PubMed and curated knowledge from specialist centers such as COSMIC for somatic mutations and dbSNP for polymorphisms. Integration employs automated parsers, mapping tables, and identifier equivalence services maintained by groups like ELIXIR and the European Bioinformatics Institute.
GeneCards provides gene-centric cards with sections for protein function, expression, paralogs and orthologs, pathways, diseases, and publications. Analytical tools include batch search, gene set enrichment, and a gene prioritization engine used to rank candidates from genomic studies. Visualization components link to genome browsers such as the UCSC Genome Browser and pathway viewers like Reactome. Exportable datasets and API endpoints permit programmatic access compatible with workflow managers and platforms like Galaxy (platform), Cytoscape, and Bioconductor. Annotation pipelines reference controlled vocabularies from MeSH and nomenclature authorities like HGNC.
Researchers employ the database for gene discovery, variant interpretation, biomarker identification, drug target validation, and pathway analysis. Clinical geneticists use integrated disease annotations to support diagnostic interpretation in conjunction with resources such as OMIM and ClinVar. Cancer researchers combine somatic mutation data and expression profiles with catalogs like COSMIC and TCGA to prioritize oncogenes and tumor suppressors. Pharmaceutical and biotech firms utilize gene-function summaries and interaction networks to identify therapeutic targets and repurpose compounds, often integrating insights with databases like DrugBank and ChEMBL. Educational institutions and bioinformatics cores adopt the resource for teaching genomic annotation workflows and for generating curated gene lists for functional assays.
The resource originated in academic settings and expanded through collaborations with genome centers, computational biology groups, and clinical genetics consortia. Development milestones include integration of large-scale expression atlases, incorporation of clinical variant annotations, and rollout of programmatic APIs for large-scale analyses. Contributors and collaborators over time have included researchers affiliated with institutions such as the Weizmann Institute of Science, the Technion – Israel Institute of Technology, and international partners in projects coordinated by organizations like ELIXIR and the Human Genome Organization. The platform has evolved alongside major initiatives including the Human Genome Project, the ENCODE Project, and population-scale sequencing efforts such as the 1000 Genomes Project.
Access models combine open-access web queries with license terms for bulk downloads and commercial usage; academic use is often permitted under specific institutional agreements. Programmatic access is provided via APIs and downloadable flat files enabling integration into pipelines maintained by bioinformatics groups and core facilities. Licensing and data-use policies reference source-specific restrictions from providers like UniProt and Ensembl and align with community guidelines promoted by organizations such as the Global Alliance for Genomics and Health.
Category:Biological databases Category:Genetics