The Human Gene Mutation Database (HGMD) collates data on germ-line mutations in nuclear genes associated with human inherited disease. It includes information on single base-pair substitutions in coding, regulatory and splicing-relevant regions; micro-deletions and micro-insertions; indels; triplet repeat expansions as well as gross deletions; insertions; duplications; and complex rearrangements. Each mutation entry is unique, and includes cDNA reference sequences for most genes, splice junction sequences, disease-associated and functional polymorphisms, as well as links to data present in publicly available online locus-specific mutation databases.

Missing Contact
Pattern for Local Unique Identifiers

Local identifiers in Human Gene Mutation Database should match this regular expression:

Example Local Unique Identifier
CALM1   Resolve
Pattern for CURIES

Compact URIs (CURIEs) constructed from Human Gene Mutation Database should match this regular expression:

Example CURIE
Metaregistry Human Gene Mutation Database

The metaregistry provides mappings between the Bioregistry and other registries. There are 5 mappings to external registries for this resource with 3 unique external prefixes.

Registry Name Registry Metaprefix External Prefix Curate
BioContext biocontext HGMD
EDAM EDAM Ontology logo edam 3265
Integbio Integbio logo integbio nbdc00097 logo miriam hgmd
N2T Name-to-Thing logo n2t hgmd

Providers are various services that resolve CURIEs to URLs. The example CURIE hgmd:CALM1 is used to demonstrate the provides available for this resource. Generation of OLS and BioPortal URLs requires additional programmatic logic beyond string formatting.

Name Metaprefix URI
Human Gene Mutation Database hgmd
Bioregistry bioregistry miriam
Name-to-Thing n2t