A substantial body of research is focused to improve the understanding of the relationship between genotypes and phenotypes. Genotype–phenotype studies have shown promise in improving disease diagnosis in humans and identification of specific clinical phenotypes may be helpful in developing more effective therapeutic and diagnostic strategies. To expand on the existing paradigm of evaluating genotypes and phenotypes, we present an investigation of the correlation between biological processes as represented by genomic information and phenotypes in human disease. We focus on monogenic diseases and link biological process and phenotype utilizing information from the Online Mendelian Inheritance in Man, the Gene Ontology, and the Human Phenotype Ontology comprehensive genomic, phenotypic, and disease information resources. Our study uncovers 4661 statistically significant associations and identifies novel correlations between biological processes and phenotypes. We find new relationships between unique phenotype–genotype pairs related to cardiovascular diseases and hypertelorism, which suggests that differences between certain phenotype–genotype association may be the key to the divergence of corresponding phenotypes. Although the application of correlating genotype, phenotype, and biological processes may help to guide diagnosis and treatment of diseases, further investigation and more specific gene ontology descriptions are still required to elucidate mechanisms of action.

大量研究集中于提高对基因型和表型之间关系的理解。基因型-表型研究显示出改善人类疾病诊断的前景，特定临床表型的鉴定可能有助于开发更有效的治疗和诊断策略。为了扩展评估基因型和表型的现有范式，我们对以基因组信息和人类疾病表型为代表的生物过程之间的相关性进行了调查。我们专注于单基因疾病，并利用来自人类在线孟德尔遗传、基因本体论和人类表型本体论综合基因组、表型和疾病信息资源的信息将生物过程和表型联系起来。我们的研究揭示了 4661 个具有统计学意义的关联，并确定了生物过程和表型之间的新相关性。我们发现与心血管疾病和眼距过长相关的独特表型-基因型对之间的新关系，这表明某些表型-基因型关联之间的差异可能是相应表型分化的关键。尽管相关基因型、表型和生物学过程的应用可能有助于指导疾病的诊断和治疗，但仍需要进一步研究和更具体的基因本体描述来阐明作用机制。我们发现了与心血管疾病和眼距过长相关的独特表型-基因型对之间的新关系，这表明某些表型-基因型关联之间的差异可能是相应表型分化的关键。尽管相关基因型、表型和生物学过程的应用可能有助于指导疾病的诊断和治疗，但仍需要进一步研究和更具体的基因本体描述来阐明作用机制。我们发现了与心血管疾病和眼距过长相关的独特表型-基因型对之间的新关系，这表明某些表型-基因型关联之间的差异可能是相应表型分化的关键。尽管相关基因型、表型和生物学过程的应用可能有助于指导疾病的诊断和治疗，但仍需要进一步研究和更具体的基因本体描述来阐明作用机制。