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An ontological analysis of a dataset of curated dermatological gene–disease associations (G2P-Skin)

Lookup NU author(s): Tania Agath Agathangelidi, Dr Luke Carson, Dr Joe InnsORCiD, Professor Neil RajanORCiD

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This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).

Abstract

© The Author(s) 2025. Published by Oxford University Press on behalf of British Association of Dermatologists.More than 607 genodermatoses have been associated with pathogenic variants in 477 genes, which are captured in the updated Genotype 2 Phenotype (G2P) Skin dataset. Here we report: (i) the utility of this clinically curated database for the annotation of genetic variants reported from whole-exome and genome sequencing data of patients with a skin phenotype; and (ii) the ontological analysis of this set of ‘skin genes’. Gene ontology analysis of G2P-Skin enhances the value of the prior discovery of the genetic basis of individual rare skin diseases, highlighting potential common pathways that underlie groups of rare skin diseases, and has the potential to reconceptualize the way some long-standing genodermatoses are categorized.

Publication metadata

Author(s): Agathangelidi TA, Carson L, Doolan BJ, Dubois A, Martin RJ, Inns J, Onoufriadis A, Rajan N

Publication type: Article

Publication status: Published

Journal: British Journal of Dermatology

Year: 2026

Volume: 194

Issue: 3

Pages: 575-577

Print publication date: 01/03/2026

Online publication date: 03/11/2025

Acceptance date: 30/10/2025

Date deposited: 02/03/2026

ISSN (print): 0007-0963

ISSN (electronic): 1365-2133

Publisher: Oxford University Press

URL: https://doi.org/10.1093/bjd/ljaf438

DOI: 10.1093/bjd/ljaf438

Data Access Statement: The data underlying this article are available in the Gene2Phenotype system, at https://www.ebi.ac.uk/gene2phenotype and https://osf.io/eb5p6

PubMed id: 41183504

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