Description
This track displays detailed, evidence-based gene-disease models, curated from the literature by
experts. The track can be used to filter genomic sequencing data from individuals with genetic
disorders to identify likely causative variants and accelerate diagnosis. More information about
the G2P project can be found on the
Gene2Phenotype
website.
Display Conventions and Configuration
For each track, items are colored according to the likelihood that the gene-disease
association is true:
- Dark-green - Definitive
- Green - Strong
- Light-green - Moderate
- Pink - Limited
- Red - Disputed
- Dark-red - Refuted
Each mouseover tooltip provides the following information:
- G2P ID: Unique identifier assigned by the Gene2Phenotype (G2P) database.
- Variant Consequence: Predicted effect each allele of a variant has on a
transcript.
- Disease Name: Name of the disease associated with the variant.
- PubMed IDs: Publications associated with the variant.
- Molecular Mechanism: Description of the molecular processes and interactions
causing pathogenic effects.
- Allelic Requirements: Number of alleles required at a locus to produce a
pathogenic phenotype (e.g., monoallelic, biallelic).
- Date of Last Review: Most recent date the entry was manually reviewed.
Method
Expert-curated gene disease models released by the Gene2Phenotype project were imported and
processed to create a BED-based track annotating genomic regions reported to be associated with
disease in the literature. Standard genome assembly coordinates and gene annotations were used to
map entries to the browser.
Contact
For more information on the Gene2Phenotype project, please contact
g2p-help@ebi.
ac.
uk
Data Access
Source data for these tracks are available directly from
Gene2Phenotype.
References
Thormann A, Halachev M, McLaren W, Moore DJ, Svinti V, Campbell A, Kerr SM, Tischkowitz M, Hunt SE,
Dunlop MG et al.
Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP.
Nat Commun. 2019 May 30;10(1):2373.
DOI: 10.1038/s41467-019-10016-3; PMID: 31147538; PMC: PMC6542828
Yates TM, Ansari M, Thompson L, Hunt SE, Uhalte EC, Hobson RJ, Marsh JA, Wright CF, Firth HV.
Curating genomic disease-gene relationships with Gene2Phenotype (G2P).
Genome Med. 2024 Nov 6;16(1):127.
DOI: 10.1186/s13073-024-01398-1; PMID: 39506859; PMC: PMC11539801