Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:database
|
| gptkbp:abbreviation |
gptkb:HGMD
|
| gptkbp:access |
subscription
limited free access |
| gptkbp:citation |
Cooper DN, et al. Nucleic Acids Res. 2023;51(D1):D1180-D1189.
|
| gptkbp:contains |
germline mutations
disease-associated variants |
| gptkbp:created |
1996
|
| gptkbp:createdBy |
gptkb:David_N._Cooper
|
| gptkbp:focus |
disease-causing mutations
human gene mutations |
| gptkbp:fullName |
gptkb:Human_Gene_Mutation_Database
|
| https://www.w3.org/2000/01/rdf-schema#label |
HGMD
|
| gptkbp:maintainedBy |
gptkb:Cardiff_University
|
| gptkbp:updated |
regularly
|
| gptkbp:usedFor |
research
clinical genetics |
| gptkbp:website |
https://www.hgmd.cf.ac.uk/
|
| gptkbp:bfsParent |
gptkb:dbNSFP
gptkb:dbSNP gptkb:TG_gene gptkb:IDUA_gene |
| gptkbp:bfsLayer |
6
|