{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,14]],"date-time":"2026-03-14T09:33:51Z","timestamp":1773480831066,"version":"3.50.1"},"reference-count":61,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2022,6,22]],"date-time":"2022-06-22T00:00:00Z","timestamp":1655856000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Spanish Ministry of Science Innovation and Universities","award":["PID2019-105010RB-I00"],"award-info":[{"award-number":["PID2019-105010RB-I00"]}]},{"name":"Spanish Ministry of Science Innovation and Universities","award":["PID2019-108096RB-C21"],"award-info":[{"award-number":["PID2019-108096RB-C21"]}]},{"DOI":"10.13039\/501100008530","name":"FEDER","doi-asserted-by":"publisher","award":["PY20_00257"],"award-info":[{"award-number":["PY20_00257"]}],"id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008530","name":"FEDER","doi-asserted-by":"publisher","award":["PY20_00372"],"award-info":[{"award-number":["PY20_00372"]}],"id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008530","name":"FEDER","doi-asserted-by":"publisher","award":["RH-0079-2021"],"award-info":[{"award-number":["RH-0079-2021"]}],"id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009473","name":"University of Malaga","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009473","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,7,18]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>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.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>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.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Availability<\/jats:title>\n                  <jats:p>https:\/\/github.com\/ElenaRojano\/angio_cluster.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Contact<\/jats:title>\n                  <jats:p>seoanezonjic@uma.es and elenarojano@uma.es<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/bib\/bbac220","type":"journal-article","created":{"date-parts":[[2022,6,22]],"date-time":"2022-06-22T20:00:50Z","timestamp":1655928050000},"source":"Crossref","is-referenced-by-count":4,"title":["Deepening the knowledge of rare diseases dependent on angiogenesis through semantic similarity clustering and network analysis"],"prefix":"10.1093","volume":"23","author":[{"given":"Raquel","family":"Pagano-M\u00e1rquez","sequence":"first","affiliation":[{"name":"Department of Molecular Biology and Biochemistry, University of Malaga, Andalucia Tech , Bulevar Louis Pasteur 31, E-29071, Malaga , Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9","family":"C\u00f3rdoba-Caballero","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology and Biochemistry, University of Malaga, Andalucia Tech , Bulevar Louis Pasteur 31, E-29071, Malaga , Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beatriz","family":"Mart\u00ednez-Poveda","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology and Biochemistry, University of Malaga, Andalucia Tech , Bulevar Louis Pasteur 31, E-29071, Malaga , Spain"},{"name":"CIBER de Enfermedades Cardiovasculares, CIBERCV , Av. Monforte de Lemos, 3-5, Pabellon 11, Planta 0, 28029, Madrid , Spain"},{"name":"Biomedical Research Institute of Malaga, IBIMA , Calle Doctor Miguel Diaz Recio 28, 29010, Malaga , Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana R","family":"Quesada","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology and Biochemistry, University of Malaga, Andalucia Tech , Bulevar Louis Pasteur 31, E-29071, Malaga , Spain"},{"name":"Biomedical Research Institute of Malaga, IBIMA , Calle Doctor Miguel Diaz Recio 28, 29010, Malaga , Spain"},{"name":"CIBER de Enfermedades Raras, CIBERER , Av. Monforte de Lemos, 3-5, Pabellon 11, Planta 0, 28029, Madrid , Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Rojano","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology and Biochemistry, University of Malaga, Andalucia Tech , Bulevar Louis Pasteur 31, E-29071, Malaga , Spain"},{"name":"Biomedical Research Institute of Malaga, IBIMA , Calle Doctor Miguel Diaz Recio 28, 29010, Malaga , Spain"},{"name":"CIBER de Enfermedades Raras, CIBERER , Av. Monforte de Lemos, 3-5, Pabellon 11, Planta 0, 28029, Madrid , Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pedro","family":"Seoane","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology and Biochemistry, University of Malaga, Andalucia Tech , Bulevar Louis Pasteur 31, E-29071, Malaga , Spain"},{"name":"Biomedical Research Institute of Malaga, IBIMA , Calle Doctor Miguel Diaz Recio 28, 29010, Malaga , Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan A G","family":"Ranea","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology and Biochemistry, University of Malaga, Andalucia Tech , Bulevar Louis Pasteur 31, E-29071, Malaga , Spain"},{"name":"Biomedical Research Institute of Malaga, IBIMA , Calle Doctor Miguel Diaz Recio 28, 29010, Malaga , Spain"},{"name":"CIBER de Enfermedades Raras, CIBERER , Av. Monforte de Lemos, 3-5, Pabellon 11, Planta 0, 28029, Madrid , Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miguel","family":"\u00c1ngel Medina","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology and Biochemistry, University of Malaga, Andalucia Tech , Bulevar Louis Pasteur 31, E-29071, Malaga , Spain"},{"name":"Biomedical Research Institute of Malaga, IBIMA , Calle Doctor Miguel Diaz Recio 28, 29010, Malaga , Spain"},{"name":"CIBER de Enfermedades Raras, CIBERER , Av. 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