<script type="application/ld+json">{"@context":"https://schema.org","@type":"TechArticle","url":"http://medal.ctb.upm.es/projects/DISNET/ontologies/sem-disnet","image":"http://vowl.visualdataweb.org/webvowl/#iri=http://medal.ctb.upm.es/projects/DISNET/ontologies/sem-disnet","name":"SEM-DISNET","headline":"SEM-DISNET ontology provides a integrated ontology used to describe the define entities, which appear in the DISNET database. It is an ontology aimed at facilitating the analysis of biomedical data, allowing the discovery of new patterns and associations between genes, drugs and their targets to be applied in cases of drug repositioning.This project has been carried out within the DISNET project of MEDAL Laboratory (Medical Data Analytics) at the CTB-UPM, together with DRUGS4COVID, developed by the OEG-UPM (Ontology Engineering Group).DISNET website: https://disnet.ctb.upm.es/OEG website: https://oeg.fi.upm.es/","datePublished":"2022-03-30","license":"http://purl.org/NET/rdflicense/cc-by-nc-sa4.0","author":[{"@type":"Person","name":"MEDAL: https://medal.ctb.upm.es/"},{"@type":"Person","name":"OEG: https://oeg.fi.upm.es/"}],
<script type="application/ld+json">{"@context":"https://schema.org","@type":"TechArticle","url":"http://medal.ctb.upm.es/projects/DISNET/ontologies/sem-disnet","image":"http://vowl.visualdataweb.org/webvowl/#iri=http://medal.ctb.upm.es/projects/DISNET/ontologies/sem-disnet","name":"SEM-DISNET","headline":"SEM-DISNET ontology provides a integrated ontology used to describe the define entities, which appear in the DISNET database. It is an ontology aimed at facilitating the analysis of biomedical data, allowing the discovery of new patterns and associations between genes, drugs and their targets to be applied in cases of drug repositioning.This project has been carried out within the DISNET project of MEDAL Laboratory (Medical Data Analytics) at the CTB-UPM, together with DRUGS4COVID, developed by the OEG-UPM (Ontology Engineering Group).DISNET website: https://disnet.ctb.upm.es/OEG website: https://oeg.fi.upm.es/","datePublished":"2022-03-30","version":"1.1","license":"http://purl.org/NET/rdflicense/cc-by-nc-sa4.0","author":[{"@type":"Person","name":"MEDAL: https://medal.ctb.upm.es/"},{"@type":"Person","name":"OEG: https://oeg.fi.upm.es/"}],
<dc:descriptionxml:lang="en">This relationship indicates that an altered expression of the gene is associated with the disease phenotype.</dc:description>
<rdfs:commentxml:lang="en">Relationships mapped to this class:
<dc:descriptionxml:lang="en">This relationship indicates that the gene either plays a role in the aetiology of the disease (e.g. participates in the molecular mechanism that leads to disease) or is a biomarker for a disease (this is a very broad classification that we use when we do not have more information on the type of association between the gene and the disease).</dc:description>
<rdfs:commentxml:lang="en">Relationships mapped to this class:
<dc:descriptionxml:lang="en">This relationship indicates that a gene is included in a chromosomal rearrangement associated with a particular manifestation of the disease.</dc:description>
<rdfs:commentxml:lang="en">Relationships mapped to this class:
"Role in the phenotype of" (Orphanet)</rdfs:comment>
<dc:descriptionxml:lang="en">This relationship indicates that the fusion between two different genes (between promoter and/or other coding DNA regions) is associated with the disease.</dc:description>
<rdfs:commentxml:lang="en">Relationships mapped to this class:
"Part of a fusion gene in" (Orphanet)</rdfs:comment>
<dc:descriptionxml:lang="en">This relationship indicates that a sequence variation (a mutation, a SNP) is associated with the disease phenotype, but there is still no evidence to say that the variation causes the disease.</dc:description>
<rdfs:commentxml:lang="en">Relationships mapped to this class:
<dc:descriptionxml:lang="en">This relationship indicates that there are germline allelic variants or mutations known to cause the disease, and they may be passed on to offspring.</dc:description>
<rdfs:commentxml:lang="en">Relationships mapped to this class:
<dc:descriptionxml:lang="en">This relationship indicates that a germline gene mutation modifies the clinical presentation of the disease, and it may be passed on to offspring.</dc:description>
<rdfs:commentxml:lang="en">Relationships mapped to this class:
<dc:descriptionxml:lang="en">This relationship indicates that a gene mutation is known to modify the clinical presentation of the disease.</dc:description>
<rdfs:commentxml:lang="en">Relationships mapped to this class:
<dc:descriptionxml:lang="en">This relationship indicates that alterations in the function of the protein by means of post-translational modifications (methylation or phosphorylation of the protein) are associated with the disease phenotype.</dc:description>
<rdfs:commentxml:lang="en">Relationships mapped to this class:
<dc:descriptionxml:lang="en">This relationship indicates that there are somatic allelic variants or mutations known to cause the disease, but they may not be passed on to offspring.</dc:description>
<rdfs:commentxml:lang="en">Relationships mapped to this class:
<dc:descriptionxml:lang="en">This relationship indicates that a somatic gene mutation modifies the clinical presentation of the disease, but it may not be passed on to offspring.</dc:description>
<rdfs:commentxml:lang="en">Relationships mapped to this class:
<dc:descriptionxml:lang="en">This relationship indicates that a gene mutation in a germ cell that predisposes to the development of a disorder, and that is necessary but not sufficient for the manifestation of the disease.</dc:description>
<rdfs:commentxml:lang="en">Relationships mapped to this class:
<dc:descriptionxml:lang="en">This relationship indicates that the gene/protein has a therapeutic role in the amelioration of the disease.</dc:description>
<rdfs:commentxml:lang="en">Relationships mapped to this class:
<dc:descriptionxml:lang="en">This relationship indicates that a genomic alteration is linked to the gene associated with the disease phenotype.</dc:description>
