MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genes

M K Sobczyk-Barad*, T R Gaunt, L Paternoster

*Corresponding author for this work

Research output: Contribution to journalArticle (Academic Journal)peer-review

2 Citations (Scopus)
72 Downloads (Pure)


Gene prioritisation at human GWAS loci is challenging due to linkage disequilibrium and long-range gene regulatory mechanisms. However, identifying the causal gene is crucial to enable identification of potential drug targets and better understanding of molecular mechanisms. Mapping GWAS traits to known phenotypically-relevant Mendelian disease genes near a locus is a promising approach to gene prioritisation.

We present MendelVar, a comprehensive tool that integrates knowledge from four databases on Mendelian disease genes with enrichment testing for a range of associated functional annotations such as Human Phenotype Ontology, Disease Ontology and variants from ClinVar. This open web-based platform enables users to strengthen the case for causal importance of phenotypically matched candidate genes at GWAS loci. We demonstrate the use of MendelVar in post-GWAS gene annotation for type 1 diabetes, type 2 diabetes, blood lipids and atopic dermatitis.
Original languageEnglish
Article numberbtaa1096
Pages (from-to)1-8
Number of pages8
Issue number1
Publication statusPublished - 9 Apr 2021

Bibliographical note

Publisher Copyright:
© The Author(s) 2021. Published by Oxford University Press.


  • GWAS
  • bioinformatics
  • Mendelian


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