Database Record
HGMD: The Human Gene Mutation Database
| IDNBDC common database IDs, which should be written in parentheses if there are multiple titles, such as Japanese and English. | NBDC00097 |
|---|---|
| Database nameName of the database | HGMD |
| Alternative nameAlternative name of the database | The Human Gene Mutation Database |
| URLURL of the database | http://www.hgmd.org/ |
| Database maintenance siteSite maintaining the database | Institute of Medical Genetics in Cardiff |
| Country/RegionCountry or region name where the database maintenance site is located | United Kingdom |
| Database descriptionDatabase descirption | HGMD is a integrated database of germ-line mutations which are underlying or associated with human inherited disease in nuclear genes. This database contains all germ-line disease-causing mutations and disease-associated/functional polymorphisms reported in the literature. Furthermore, it includes the data about single base-pair substitutions in coding (e.g. missense and nonsense), regulatory and splicing-relevant regions of human nuclear genes, micro-deletions and micro-insertions, indels, repeat expansions, as well as gross gene lesions (deletions, insertions and duplications) and complex gene rearrangements. These data are provided in a readily accessible format to all interested parties, whether they are from an academic, clinical or commercial background. |
| Organism(s) coveredNCBI Taxonomy names and IDs covered by the database | Homo sapiens (9606) |
| Tag - TargetTag to indicate targets for this database such as genome and protein |
Genome/Gene
cDNA/EST
Genetic variation
Epigenetics
DNA
RNA
Protein
Carbohydrate
Lipid
Metabolite
Chemical compound
Drug
Cell/Organelle
Organism
Health/Disease
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| Tag - Information typeTag to indicate information types for this database such as sequence and structure |
Phenotype
Bioresource
Method
Ontology/Terminology/Nomenclature
Environment
Sequence
3D structure
Chemical structure
Expression
Localization
Geographic Distribution
Interaction/Pathway
Taxonomy
Classification
Image/Movie
Bibliography/Documents
Portal
Repository
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| Reference(s) - PubMed ID/DOIPubMed IDs/DOI for papers related to the database | ― |
| Language(s)Languages in which the contents of the database are displayed | English |
| Operational statusOperational status for the database | Active |
| Link(s) to Downloadable dataLinks to downloadable data | ― |
| Link(s) to MetaData of downloadable dataLinks to metadata of downloadable data | ― |
| Link(s) to Terms of useLinks to terms of use of downloadable data | ― |
| Link(s) to "How to use" | ― |
| Contact information of database | ― |
| Link(s) to API / SPARQL endpoint | ― |
| Link to LSDB ArchiveLink to LSDB Archive | ― |
| Link to MEDALS Database listLink to MEDALS Database list | ― |
| Link to TogoTVLink to TogoTV | ― |
| Link to FAIRsharingLink to FAIRsharing | ― |
| Similar databasesDatabases that are similar to this database. | |
| Record maintainerRecord maintainer | Integbio Database Catalog |
| Record sourceOrganization that originally created the record |
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| Date of creation of this recordDate of creation of this English record | 2013-06-17 |
| Last update date of this recordLast update date of this English record | 2018-03-12 |
| Record license | Creative Commons CC0 license |