Identifiers correspond to gene-disease models for assisting in the identification of causative variants and accelerating the diagnosis of genetic disorders

Prefix

g2p

Keywords

clinical diagnostics disease genetics genomic variant filtering

Links

Homepage Request Discussion

Publications

2026 Gene2Phenotype: A Database of Structured Human Monogenic Diseases and Pathomechanisms.

2024 Curating genomic disease-gene relationships with Gene2Phenotype (G2P)

Pattern for Local Unique Identifiers

Local identifiers in Gene2Phenotype should match this regular expression:
^G2P\d{5}$

Example Local Unique Identifier

G2P02419   Resolve

Pattern for CURIES

Compact URIs (CURIEs) constructed from Gene2Phenotype should match this regular expression:
^g2p:G2P\d{5}$

Example CURIE

g2p:G2P02419

Contact

Sarah E. Hunt   0000-0002-8350-1235   sarahhunt

Contributors

submitter Hetvi Khamar   0009-0004-3248-9223   hetvikhamar

Reviewer

Benjamin M. Gyori   0000-0001-9439-5346   bgyori

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 G2P02419 is used to demonstrate the providers available for Gene2Phenotype. Some providers may use a different example, which is displayed in the table below. A guide for curating additional providers can be found here.