HGMD: The Human Gene Mutation Database
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| Database maintenance site: | Institute of Medical Genetics in Cardiff |
| Country/Region: | United Kingdom |
| Database description: | 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) covered: | |
| Tag - Target: | Genome/Gene, cDNA/EST, Health/Disease |
| Tag - Information type: | Sequence |
| Reference(s) - PubMed ID/DOI: | - |
| Language(s): | English |
| Operational status: | Active |
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| Link(s) to Terms of use: | - |
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| Link(s) to API / SPARQL endpoint | - |
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Link to LSDB Archive:
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Link to MEDALS Database list:
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Link to TogoTV:
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Link to FAIRsharing:
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Similar databases:
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IARC TP53 Database FIDD Lowe Syndrome Mutation Database OMIM MgNEST-DB Myc Cancer Gene ASTRA (Archive) Cystic Fibrosis Mutation Database |
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Record maintainer
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Integbio Database Catalog |
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Record source:
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Date of creation of this record:
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2013-06-17 |
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Last update date of this record:
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2018-03-12 |
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Record license:
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Creative Commons CC0 license |