The use of next-generation sequencing technologies such as exome and genome sequencing in research and clinical care has transformed our understanding of the molecular architecture of genetic kidney diseases. Although the capability to identify and rigorously assess genetic variants and their relationship to disease has advanced considerably in the past decade, the curation of clinically relevant relationships between genes and specific phenotypes has received less attention, despite it underpinning accurate interpretation of genomic tests. Here, we discuss the need to accurately define gene–disease relationships in nephrology and provide a framework for appraising genetic and experimental evidence critically. We describe existing international programmes that provide expert curation of gene–disease relationships and discuss sources of discrepancy as well as efforts at harmonization. Further, we highlight the need for alignment of disease and phenotype terminology to ensure robust and reproducible curation of knowledge. These collective efforts to support evidence-based translation of genomic sequencing into practice across clinical, diagnostic and research settings are crucial for delivering the promise of precision medicine in nephrology, providing more patients with timely diagnoses, accurate prognostic information and access to targeted treatments.

在研究和临床护理中使用下一代测序技术（如外显子组和基因组测序）改变了我们对遗传性肾病分子结构的理解。尽管在过去十年中，识别和严格评估遗传变异及其与疾病关系的能力有了长足的进步，但对基因和特定表型之间临床相关关系的管理却很少受到关注，尽管它支撑着基因组测试的准确解释。在这里，我们讨论了准确定义肾脏病学中基因-疾病关系的必要性，并为批判性地评估遗传和实验证据提供了一个框架。我们描述了现有的国际计划，这些计划提供基因-疾病关系的专家管理，并讨论了差异的来源以及协调的努力。此外，我们强调了对齐疾病和表型术语的必要性，以确保知识的稳健和可重复的管理。这些支持在临床、诊断和研究环境中将基因组测序循证转化为实践的集体努力，对于实现肾脏病学精准医学的承诺、为更多患者提供及时诊断、准确的预后信息和靶向治疗至关重要。