The Human Gene Mutation Database (HGMD®) represents an attempt to collate known (published) gene lesions responsible for human inherited disease. and is maintained in Cardiff by D.N. Cooper, E.V. Ball, P.D. Stenson, A.D. Phillips, K. Evans, S. Heywood, M.J. Hayden, J. Shiel, S. Beynon AND M.E Mort.

人类基因突变数据库 (The Human Gene Mutation Database,HGMD® )是通用 型数据库的代表, 它全面收集引起人类遗传疾病或与人类遗传疾病相关的核基因 突变。

The Human Gene Mutation Database includes the first example of all mutations causing or associated with human inherited disease, plus disease-associated/functional polymorphisms reported in the literature. HGMD may also include additional reports for certain mutations if these reports serve to enhance the original entry (e.g. functional studies).

The Human Gene Mutation Database (HGMD ®) represents a comprehensive collection of germ-line mutations in nuclear genes, underlying or associated with human inherited disease.

The Professional version of HGMD is available via subscription. HGMD Professional has many benefits over the public version, including up-to-date mutation data, advanced search options, genomic coordinates and HGVS nomenclature.

Home Search help Statistics New genes What is new Background Publications Contact Register Login LSDBs Other links Gene symbol Gene description OMIM number Disease/phenotype Symbol: Missense/nonsense Splice Regulatory Small deletions Small insertions Small indels Gross deletions Gross insertions Complex rearrangements Repeat variations

There are five ways HGMD may be searched. 1. Gene symbol search - searches HGMD for the official HUGO Gene Nomenclature Committee gene symbol. 2. Gene description search - searches HGMD for the full gene description, again as recorded by the Nomenclature Committee. Older gene symbols (if present) can also be searched for here. 3.

Human Gene Mutation Database (HGMD®) は、ヒト遺伝病の原因核遺伝子と遺伝病関連遺伝子の生殖細胞における変異情報を網羅的に収載しています。

인간 유전자 돌연변이 데이터 베이스 (The Human Gene Mutation Database: HGMD®)는, 인간 유전질환의 원인이 되거나 또는 이와 관련 있는 핵 유전자에서 발생하는 생식세포 돌연변이들을 망라한다.

Commercial users are required to purchase a license from QIAGEN®, our commercial partner. The HGMD Professional license is available to both commercial and academic/non-profit users wishing to access the most up-to-date version of the database. HGMD mutation data are made available via the public site 3 years after initial inclusion.