genenames.org

genenames.org provides standardized human gene nomenclature and curated gene information to support consistent gene identification and cross-referencing in genomic and biomedical research.

Key Features:

• Approved gene symbol catalogue: Contains over 30,000 approved gene symbols, including more than 19,000 protein-coding genes.
• Quick Gene Search: Provides lookup of specific gene symbols and names within the HGNC dataset.
• List Search: Supports batch queries on lists of genes for comparative or bulk retrieval.
• Integrated HGNC BioMart: Enables querying and downloading of curated genetic datasets for large-scale analyses.
• Statistics and Downloads Facility: Offers access to statistical summaries and downloadable resources related to gene nomenclature.
• Searchable HGNC database: Serves as a central searchable repository of HGNC-curated gene records and metadata.
• HCOP orthology search tool: Provides orthology mappings between human genes and genes in other species.
• Manually curated gene family webpages: Deliver curated groupings and information for gene families to aid relationship analyses.
• Cross-references: Links to related genomic, phenotypic, and proteomic information for individual gene records.

Scientific Applications:

• Genetic research: Standardizes gene symbols and provides curated records to support gene-centric research and publications.
• Clinical and personalized medicine: Supports consistent gene nomenclature mapping in clinical genomics and variant interpretation.
• Bioinformatics workflows: Supplies downloadable datasets via HGNC BioMart for integration into large-scale genomic and bioinformatic analyses.
• Comparative genomics and evolutionary studies: Enables orthology analyses and exploration of gene family relationships using HCOP and curated family pages.

Methodology:

HGNC editors manually curate gene symbols and metadata into a searchable HGNC database and HGNC BioMart, with integration of HCOP orthology mappings and manually curated gene family webpages for cross-referencing and dataset downloads.