Human disease-associated gene data are accessible through databases, including the Open Targets Platform, DisGeNET, miRTex, RNADisease, and PubChem. However, missing data entries in such databases are anticipated because of curational errors, biases, and text-mining failures. Additionally, the extensive research on human diseases has led to challenges in registering comprehensive data. The lack of essential data in databases hinders knowledge sharing and should be addressed. Therefore, we propose an analysis pipeline to explore missing entries of unexploited genes in the human disease-associated gene databases. Using this pipeline for genes in Parkinson’s disease with oxidative stress revealed two unexploited genes: nuclear protein 1 (NUPR1) and ubiquitin-like with PHD and ring finger domains 2 (UHRF2). This methodology enhances the identification of underrepresented disease-associated genes, facilitating easier access to potential human disease-related functional genes. This study aims to identify unexploited genes for further research and does not include independent experimental validation.

人类疾病相关基因数据可通过数据库访问，包括 Open Targets Platform、DisGeNET、miRTex、RNADisease 和 PubChem。然而，由于管理错误、偏见和文本挖掘失败，预计此类数据库中会丢失数据条目。此外，对人类疾病的广泛研究给登记综合数据带来了挑战。数据库中缺乏基本数据阻碍了知识共享，应予以解决。因此，我们提出了一个分析管道来探索人类疾病相关基因数据库中未利用基因的缺失条目。使用此管道检测伴有氧化应激的帕金森病基因，发现了两个未利用的基因：核蛋白 1 ( NUPR1)和具有 PHD 和无名指结构域的类泛素 2 ( UHRF2) 。该方法增强了对代表性不足的疾病相关基因的识别，从而更容易获得潜在的人类疾病相关功能基因。本研究旨在识别未开发的基因以供进一步研究，不包括独立的实验验证。