appears_in: []
contact:
  email: seh@ebi.ac.uk
  github: sarahhunt
  name: Sarah E. Hunt
  orcid: 0000-0002-8350-1235
contributor:
  email: khamar.he@northeastern.edu
  github: hetvikhamar
  name: Hetvi Khamar
  orcid: 0009-0004-3248-9223
depends_on: []
deprecated: false
description: Identifiers correspond to gene-disease models for assisting in the identification
  of causative variants and accelerating the diagnosis of genetic disorders
example: G2P02419
example_extras: []
github_request_issue: 1889
homepage: https://www.ebi.ac.uk/gene2phenotype
keywords:
- clinical diagnostics
- disease genetics
- genomic variant filtering
mappings: {}
name: Gene2Phenotype
namespace_in_lui: false
owners:
- name: European Bioinformatics Institute
  ror: 02catss52
pattern: ^G2P\d{5}$
preferred_prefix: g2p
prefix: g2p
providers: []
publications:
- doi: 10.1016/j.jmb.2026.169768
  pubmed: '41903835'
  title: 'Gene2Phenotype: A Database of Structured Human Monogenic Diseases and Pathomechanisms.'
  year: 2026
- doi: 10.1186/s13073-024-01398-1
  pmc: PMC11539801
  pubmed: '39506859'
  title: Curating genomic disease-gene relationships with Gene2Phenotype (G2P)
  year: 2024
reviewer:
  email: b.gyori@northeastern.edu
  github: bgyori
  name: Benjamin M. Gyori
  orcid: 0000-0001-9439-5346
synonyms: []
uri_format: https://www.ebi.ac.uk/gene2phenotype/lgd/$1
