This database aims to record all published accounts of variants resulting in osteogenesis imperfecta. Such variants occur in the COL1A1, COL1A2, CRTAP, FKBP10, LEPRE1 and PPIB genes.
This resource is a provider. This means that
while it may have its own prefix, it actually reuses the identifiers provided by the
hgnc.symbol
prefix. For all use cases, you should use hgnc.symbol
instead of collagenmutdb.
Identifier Standards
- Pattern for Local Unique Identifiers
- Missing LUI pattern
- Example Local Unique Identifier
- COL3A1 Resolve
- Example CURIE
- collagenmutdb:COL3A1
Contacts
- Contact
- Missing Contact
- Reviewer
-
Charles Tapley Hoyt
0000-0003-4423-4370
cthoyt
Ontology
A summary of the relations in the Bioregistry schema can be found here.
- Provides
- hgnc.symbol
Mappings to External Registries
Mappings from records in Bioregistry to external registries comprises the metaregistry. This resource has 1 mapping to an external registry.
| Registry Name | Registry Metaprefix | External Prefix | Curate |
|---|---|---|---|
Prefix Commons
|
prefixcommons |
cmd
|
Providers
A provider turns a local unique identifiers from a resource into a URI. Many providers are also resolvable as URLs (i.e., they can be used in a web browser).
The local unique identifier COL3A1 is used to demonstrate the providers
available for Collagen Mutation Database. Some providers may use a different example, which is displayed in the table below.
A guide for curating additional providers can be found
here.
| Provider Name | Provider Code | URI |
|---|---|---|
| Collagen Mutation Database | collagenmutdb |
https://eds.gene.le.ac.uk/home.php?select_db=COL3A1 |
| Bioregistry | bioregistry |
https://bioregistry.io/collagenmutdb:COL3A1 |
Extra Providers
Additional providers curated in the Bioregistry are listed here. These are typically inherited from Identifiers.org or Prefix Commons, and need extra curation.
| Provider Name | Provider Code | URL |
|---|---|---|
| Bio2RDF | bio2rdf |
http://bio2rdf.org/cmd:COL3A1 |