The human gene mutation database
Open accessAbstract
The Human Gene Mutation Database (HGMD) represents a comprehensive core collection of data on published germline mutations in nuclear genes underlying human inherited disease. By September 1997, the database contained nearly 12 000 different lesions in a total of 636 different genes, with new entries currently accumulating at a rate of over 2000 per annum. Although originally established for the scientific study of mutational mechanisms in human genes, HGMD has acquired a much broader utility to researchers, physicians and genetic counsellors so that it was made publicly available at http://uwcm.ac.uk/uwcm/mg/hgmd0.html in April 1996. Mutation data in HGMD are accessible on the basis of every gene being allocated one web page per mutation type, if data of that type are present. Meaningful integration with phenotypic, structural and mapping information has been accomplished through bi-directional links between HGMD and both the Genome Database (GDB) and Online Mendelian Inheritance in Man (OMIM), Baltimore, USA. Hypertext links have also been established to Medline abstracts through Entrez , and to a collection of 458 reference cDNA sequences also used for data checking. Being both comprehensive and fully integrated into the existing bioinformatics structures relevant to human genetics, HGMD has established itself as the central core database of inherited human gene mutations.
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Almost 50 missense mutations in NEU1 have so far been identified in patients with sialidosis.
“Almost 50 missense mutations in NEU1 have so far been identified in patients with sialidosis (83).”
From Structure of the immunoregulatory sialidase NEU1 (2023) · cites this paper as [83]
The Data Coverage and Structure section describes HGMD’s mutation records, and Table 1 gives totals across genes, but neither provides a NEU1-specific count. Searches for NEU1, sialidosis, and approximately 50 missense mutations found no passage addressing the claim. (LLM, conf=0.76)
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- Authors
- Cooper, D.
- Affiliations
- University of Wales (GB)
- Corresponding author
- Cooper, D.
- ORCID
- Cooper, D.
- Venue
- Nucleic Acids Research
- Publisher
- Oxford University Press (OUP)
- Published
- 1998-01-01
- Volume
- 26
- Issue
- 1
- Pages
- 285-287
- ISSN
- 0305-1048 (ISSN-L)
- 1362-4962
- PMC
- PMC147254
- OpenAlex
- W2165419403
- Cited by
- 604
- References
- 0
- Citations by year
- 2026: 4 · 2025: 8 · 2024: 8 · 2023: 8 · 2022: 7 · 2021: 25 · 2020: 16 · 2019: 17 · 2018: 20 · 2017: 16 · 2016: 23 · 2015: 39 · 2014: 57 · 2013: 53 · 2012: 62
- FWCI
- 8.46
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Nucleic Acids Research (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
- Funders
- Pfizer
- Deutsche Forschungsgemeinschaft
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
- Keywords
- HGMD, germline mutations, genetic disorders, nuclear genes, mutation data, genetic counseling, database integration, OMIM, genomic databases, cDNA sequence, biological databases
- MeSH terms
- Computer Communication Networks, Genetics, Medical, Humans, Genome, Human, Databases, Factual, Germ-Line Mutation, Genetic Diseases, Inborn
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