| Title: |
An ontological analysis of a dataset of curated dermatological gene–disease associations (G2P-Skin) |
| Authors: |
Agathangelidi TA; Carson L; Doolan BJ; Dubois A; Martin RJ; Inns J; Onoufriadis A; Rajan N |
| Source: |
British Journal of Dermatology, 1 March 2026 |
| Publisher Information: |
Oxford University Press |
| Publication Year: |
2026 |
| Collection: |
Newcastle University Library ePrints Service |
| Description: |
© 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. |
| Document Type: |
article in journal/newspaper |
| File Description: |
application/pdf |
| Language: |
unknown |
| Relation: |
https://eprints.ncl.ac.uk/310734; https://eprints.ncl.ac.uk/fulltext.aspx?url=310734/311E9339-D146-4CDD-B001-85D56258983E.pdf&pub_id=310734 |
| Availability: |
https://eprints.ncl.ac.uk/310734 |
| Rights: |
https://creativecommons.org/licenses/by/4.0/ |
| Accession Number: |
edsbas.8649952F |
| Database: |
BASE |