Motivation Gene prioritization 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 prioritization. Results 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. Availability and implementation MendelVar is freely available at https://mendelvar.mrcieu.ac.uk Supplementary information Supplementary data are available at Bioinformatics online.

中文翻译：

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MendelVar：使用孟德尔疾病基因的表型富集在 GWAS 位点进行基因优先排序

由于连锁不平衡和远程基因调控机制，人类 GWAS 基因座的基因优先排序具有挑战性。然而，识别致病基因对于识别潜在的药物靶点和更好地理解分子机制至关重要。将 GWAS 特征映射到基因座附近已知的表型相关孟德尔疾病基因是一种很有前途的基因优先排序方法。结果 我们展示了 MendelVar，这是一个综合工具，它整合了来自四个孟德尔疾病基因数据库的知识，以及对一系列相关功能注释的富集测试，例如人类表型本体论、疾病本体论和 ClinVar 的变体。这个基于网络的开放平台使用户能够加强 GWAS 位点表型匹配候选基因因果重要性的案例。我们展示了 MendelVar 在 1 型糖尿病、2 型糖尿病、血脂和特应性皮炎的 GWAS 后基因注释中的用途。可用性和实施​​ MendelVar 可在 https://mendelvar.mrcieu.ac.uk 上免费获得 补充信息 补充数据可在 Bioinformatics 在线获取。