The Pharmacogene Variation (PharmVar) Consortium is the new home for PGx gene nomenclature serving as a centralized ‘Next-Generation’ Pharmacogene Variation data repository. The major focus of PharmVar is to catalogue allelic variation of genes impacting drug metabolism, disposition and response and provide a unifying designation system (nomenclature) for the global pharmacogenetic/genomic community. Efforts are synchronized between PharmVar, the Pharmacogenomic KnowledgeBase, and the Clinical Pharmacogenetic Implementation Consortium.
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 pharmvar.
- Prefix
pharmvar- Keywords
- gene pharmacogenomics variant
- Links
- Homepage
- Publications
- 2017 The Pharmacogene Variation (PharmVar) Consortium: Incorporation of the Human Cytochrome P450 (CYP) Allele Nomenclature Database
Identifier Standards
- Pattern for Local Unique Identifiers
- Missing LUI pattern
- Example Local Unique Identifier
- CYP2A6 Resolve
- Example CURIE
- pharmvar:CYP2A6
Contacts
- Contact
-
Andrea Gaedigk
0000-0001-6968-1893
- 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 |
pharmvar
|
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 CYP2A6 is used to demonstrate the providers
available for Pharmacogene Variation Consortium. 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 |
|---|---|---|
| Pharmacogene Variation Consortium | pharmvar |
https://www.pharmvar.org/gene/CYP2A6 |
| Bioregistry | bioregistry |
https://bioregistry.io/pharmvar:CYP2A6 |
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/pharmvar:CYP2A6 |