diff --git a/SEM-DISNET Documentation/index-en.html b/SEM-DISNET Documentation/index-en.html index 5694b0a7985230104cccea5237e763c3ae6a3ede..8d5e8961223070ecba78af50109e8c02b0a48ff8 100644 --- a/SEM-DISNET Documentation/index-en.html +++ b/SEM-DISNET Documentation/index-en.html @@ -6,7 +6,7 @@ - @@ -57,6 +57,10 @@

SEM-DISNET

Release 2022-06-10

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Version:
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1.1
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Contributors:
diff --git a/ontology/SEM-DISNET_w3id.owl b/ontology/SEM-DISNET_w3id.owl index 33306b1b5f7fbde8fc46b6638f660cc7ed2c1810..25e0c3b50acd0b8ad6d398c3509528203462278b 100644 --- a/ontology/SEM-DISNET_w3id.owl +++ b/ontology/SEM-DISNET_w3id.owl @@ -1750,6 +1750,7 @@ OEG website: https://oeg.fi.upm.es/ + Synonymous @@ -2790,6 +2791,231 @@ The measure is defined here: http://www.disgenet.org/web/DisGeNET/menu/dbinfo#pl + + + + + This relationship indicates that an altered expression of the gene is associated with the disease phenotype. + Relationships mapped to this class: +"altered_expression" (LHGDN) +"altered_expression" (BeFree) + Altered Expression Association + Altered Expression + + + + + + + + + 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). + Relationships mapped to this class: +"marker/mechanism" (CTD) +"marker/mechanism|therapeutic" (CTD) +"marker/mechanism" (CTD_mouse) +"marker/mechanism|therapeutic" (CTD_mouse) +"marker/mechanism" (CTD_rat) +"marker/mechanism|therapeutic" (CTD_rat) +"marker" (MGD) +"marker" (RGD) +"any_relation" (LHGDN) +"biomarker" (BeFree) + Biomarker Association + Biomarker Association + + + + + + + + + This relationship indicates that there are allelic variants or mutations known to cause the disease. + Relationships mapped to this class: +"Pathogenic" (ClinVar) +"phenotype" (OMIM) + Causal Mutation Association + Causal Mutation + + + + + + + + + This relationship indicates that a gene is included in a chromosomal rearrangement associated with a particular manifestation of the disease. + Relationships mapped to this class: +"Role in the phenotype of" (Orphanet) + Chromosomal Rearrangement Association + Chromosomal Rearrangement + + + + + + + + + This relationship indicates that the fusion between two different genes (between promoter and/or other coding DNA regions) is associated with the disease. + Relationships mapped to this class: +"Part of a fusion gene in" (Orphanet) + Fusion Gene Association + Fusion Gene + + + + + + + + + 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. + Relationships mapped to this class: +"genetic_variation" (UniProt) +"Candidate gene tested in" (Orphanet) +"Affects" (ClinVar) +"Likely pathogenic" (ClinVar) +"susceptibility" (OMIM) +"genetic_variation" (GWASCAT) +"genetic_variation" (GAD) +"genetic_variation" (LHGDN) +"genetic_variation" (BeFree) + Genetic Variation Association + Genetic Variation + + + + + + + + + This relationship indicates that there are germline allelic variants or mutations known to cause the disease, and they may be passed on to offspring. + Relationships mapped to this class: +"Disease-causing germline mutation(s) in" (Orphanet) +"Disease-causing germline mutation(s) (loss of function) in" (Orphanet) +"Disease-causing germline mutation(s) (gain of function) in" (Orphanet) + Germline Causal Mutation Association + Germline Causal Mutation + + + + + + + + + This relationship indicates that a germline gene mutation modifies the clinical presentation of the disease, and it may be passed on to offspring. + Relationships mapped to this class: +"Modifying germline mutation in" (Orphanet) + Germline Modifying Mutation + Germline Modifying Mutation + + + + + + + + + This relationship indicates that a gene mutation is known to modify the clinical presentation of the disease. + Relationships mapped to this class: +"disease_progression" (RGD) +"onset" (RGD) +"severity" (RGD) + Modifying Mutation Association + Modifying Mutation + + + + + + + + + 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. + Relationships mapped to this class: +"methylation|phosphorylation" (LHGDN) +"methylation|phosphorylation" (BeFree) + Post-translational Modification Association + Post-translational Modification + + + + + + + + + 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. + Relationships mapped to this class: +"Disease-causing somatic mutation(s) in" (Orphanet) + Somatic Causal Mutation + Somatic Causal Mutation + + + + + + + + + This relationship indicates that a somatic gene mutation modifies the clinical presentation of the disease, but it may not be passed on to offspring. + Relationships mapped to this class: +"Modifying somatic mutation in" (Orphanet) + Somatic Modifying Mutation + Somatic Modifying Mutation + + + + + + + + + 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. + Relationships mapped to this class: +"Major susceptibility factor in" (Orphanet) +"risk factor" (ClinVar) +"confers sensitivity" (ClinVar) +"susceptibility" (RGD) + Susceptibility Mutation Association + + + + + + + + + This relationship indicates that the gene/protein has a therapeutic role in the amelioration of the disease. + Relationships mapped to this class: +"therapeutic" (CTD) +"marker/mechanism|therapeutic" (CTD) +"therapeutic" (CTD_mouse) +"marker/mechanism|therapeutic" (CTD_mouse) +"therapeutic" (CTD_rat) +"marker/mechanism|therapeutic" (CTD_rat) +"treatment" (RGD) + Therapeutic Association + Therapeutic Association + + + + + + + + + This relationship indicates that a genomic alteration is linked to the gene associated with the disease phenotype. + Genomic Alterations Association + Genomic Alteration + + + +