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.
- Prefix
collagenmutdb- Keywords
- gene
- Links
- Homepage
- Contact
- Missing Contact
- Pattern for Local Unique Identifiers
- Missing LUI pattern
- Example Local Unique Identifier
- COL3A1 Resolve
- Example CURIE
- collagenmutdb:COL3A1
- Reviewer
- Charles Tapley Hoyt 0000-0003-4423-4370 cthoyt
Metaregistry Collagen Mutation Database
The metaregistry provides mappings between the Bioregistry and other registries. There are
1 mappings to external registries for collagenmutdb with
1 unique external prefixes.
| Registry Name | Registry Metaprefix | External Prefix | Curate |
|---|---|---|---|
Prefix Commons
|
prefixcommons |
cmd
|
Providers
Providers are various services that resolve CURIEs to URLs. The example CURIE
collagenmutdb:COL3A1
is used to demonstrate the provides available for
collagenmutdb. Generation of OLS and BioPortal URLs requires additional programmatic
logic beyond string formatting.
| Name | Metaprefix | 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.
| Code | Name | URL |
|---|---|---|
bio2rdf |
Bio2RDF | http://bio2rdf.org/cmd:COL3A1 |