Department of Molecular Biology and Biochemistry, University of Malaga, Andalucia Tech, Bulevar Louis Pasteur 31, E-29071, Malaga, Spain.
CIBER de Enfermedades Cardiovasculares, CIBERCV, Av. Monforte de Lemos, 3-5, Pabellon 11, Planta 0, 28029, Madrid, Spain.
Brief Bioinform. 2022 Jul 18;23(4). doi: 10.1093/bib/bbac220.
Angiogenesis is regulated by multiple genes whose variants can lead to different disorders. Among them, rare diseases are a heterogeneous group of pathologies, most of them genetic, whose information may be of interest to determine the still unknown genetic and molecular causes of other diseases. In this work, we use the information on rare diseases dependent on angiogenesis to investigate the genes that are associated with this biological process and to determine if there are interactions between the genes involved in its deregulation.
We propose a systemic approach supported by the use of pathological phenotypes to group diseases by semantic similarity. We grouped 158 angiogenesis-related rare diseases in 18 clusters based on their phenotypes. Of them, 16 clusters had traceable gene connections in a high-quality interaction network. These disease clusters are associated with 130 different genes. We searched for genes associated with angiogenesis througth ClinVar pathogenic variants. Of the seven retrieved genes, our system confirms six of them. Furthermore, it allowed us to identify common affected functions among these disease clusters.
https://github.com/ElenaRojano/angio_cluster.
血管生成受多个基因调控，其变体可导致不同的疾病。其中，罕见病是一组异质性的病理，大多数是遗传的，其信息可能有助于确定其他疾病仍未知的遗传和分子原因。在这项工作中，我们利用依赖血管生成的罕见病信息来研究与这一生物学过程相关的基因，并确定其失调所涉及的基因之间是否存在相互作用。
我们提出了一种系统的方法，支持使用病理表型根据语义相似性对疾病进行分组。我们根据表型将 158 种与血管生成相关的罕见疾病分为 18 个簇。其中，16 个簇在高质量的相互作用网络中有可追踪的基因联系。这些疾病簇与 130 个不同的基因有关。我们通过 ClinVar 致病性变体搜索与血管生成相关的基因。在检索到的七个基因中，我们的系统证实了其中的六个。此外，它还使我们能够识别这些疾病簇之间常见的受影响功能。
https://github.com/ElenaRojano/angio_cluster.
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