Andrea Álvarez Pérez (MEDAL) Ana Iglesias Molina (OEG) Lucía Prieto Santamaría (MEDAL) Alejandro Rodríguez González (MEDAL)
MEDAL: https://medal.ctb.upm.es/ OEG: https://oeg.fi.upm.es/
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/
A property representing a concept unique identifier within the NCI Enterprise Vocabulary Service's NCI Thesaurus.
A property that represents a description of the sort of thing or category to which a concept belongs in the context of the UMLS semantic network.
In general, applying semantic types aids in allowing users (or computer programs) to draw conclusions about concepts by virtue of the categories to which they have been assigned. We use a set of semantic types developed for the UMLS Metathesaurus. There are currently 134 semantic types in the UMLS.
A property representing an alternative Preferred Name for use in some NCI systems.
A property representing the word or phrase that NCI uses by preference to refer to the concept.
A property is used to indicate when a non-EVS entity has contributed to, and has a stake in, a concept. This is used where such entities, within or outside NCI, have indicated the need to be able to track their own concepts. A single concept can have multiple instances of this property if multiple entities have such a defined stake.
A property representing the English language definition of a concept from a source other than NCI.
A property representing the organization that is the supplier or owner of each FULL_SYN term.
A property representing a fully qualified synonym, contains the string, term type, source, and an optional source code if appropriate. Each subfield is deliniated to facilitate interpretation by software.
A property representing the English language definitions of what NCI means by the concept. They may also include information about the definition's source and attribution in a form that can easily be interpreted by software.
A property representing notations made by NCI vocabulary curators. They are intended to provide supplemental, unstructured information to the user or additional insight about the concept.
A property representing the name of the organization to which an NCI Thesaurus concept is being linked to by cross reference.
A property representing a reference to an identical or very similar object in another database.
A resource has no more than one value of skos:prefLabel per language tag, and no more than one value of skos:prefLabel without language tag.
The range of skos:prefLabel is the class of RDF plain literals.
skos:prefLabel, skos:altLabel and skos:hiddenLabel are pairwise disjoint properties.
preferred label
The preferred lexical label for a resource, in a given language.
A role used to indicate that a specific molecular variation or mutation in a gene encodes a gene product sequence variant. The domain and range for this role are 'Gene Mutant' and 'Gene Product Sequence Variation', respectively.
A role used to specify the organism of origin for a gene. It may be used to differentiate genes with the same name and functions that originate from different organisms. The domain and range for this role are 'Gene' and 'Organism', respectively.
Currently, we only model human genes, but this role has obvious utility in future, if other organisms are modeled as well.
A role used to differentiate homologous proteins from different organisms. The domain and range for this role are 'Gene Product' and 'Organism', respectively.
Association between the entity and a ChEMBL Drug Indication
Association between the entity and a ChEMBL Mechanism of Action
Association between the entity and a ChEMBL Molecule
Association between the entity and a ChEMBL Target
Association between ChEMBL Target and Mechanism
has attribute is a relation that associates a entity with an attribute where an attribute is an intrinsic characteristic such as a quality, capability, disposition, function, or is an externally derived attribute determined from some descriptor (e.g. a quantity, position, label/identifier) either directly or indirectly through generalization of entities of the same type.
has attribute
is attribute of is a relation that associates an attribute with an entity where an attribute is an intrinsic characteristic such as a quality, capability, disposition, function, or is an externally derived attribute determined from some descriptor (e.g. a quantity, position, label/identifier) either directly or indirectly through generalization of entities of the same type.
is attribute of
has part is a transitive, reflexive and antisymmetric relation between a whole and itself or a whole and its part.
has part
a collection of cars has as a car as a part;a car has an engine as a part; a car has a piston as a part;
has member is a mereological relation between a collection and an item.
has member
a collection of cars has as a car as a member
A is located in B iff the spatialtemporial region occupied by A is part of the spatialtemporal region occupied by B. [T][R]
is located in
A parasite in the interior of a person's intestine is located in their intestinal lumen.
is participant in is a relation that describes the participation of the subject in the (processual) object.
is participant in
a car is a participant in a car race; glucose is a participant in glycolysis
is part of is a transitive, reflexive and anti-symmetric mereological relation between a whole and itself or a part and its whole.
is part of
is member of is a mereological relation between a item and a collection.
is member of
has participant is a relation that describes the participation of the object in the (processual) subject.
has participant
A is location of B iff the spatialtemporal region occupied by A has the spatialtemporal region occupied by B as a part. [T][R]
is location of
is represented by: a relation between an entity and some symbol.
is represented by
a represents b when a serves as a sign, symbol or model of b.
represents
A is referred to by B iff B is an informational entity that makes reference to A.
is referred to by
is measurement value of is a relation between a value and the entity that it is a measurement of.
is measurement value of
has measurement value is a relation between a quality/realizable and a measurement value.
has measurement value
has target is a relation between a process and an entity, where the entity is present at the beginning of the process and undergoes a change or transformation in the process.
has target
is target in is a relation between an entity and a process, where the entity is present at the beginning of the process and undergoes a change or transformation in the process.
is target in
glucose is a target in the hexokinase-mediated conversion of glucose to glucose-6-phosphate.
refers to is a relation between one entity and the entity that it makes reference to.
refers to
x is associated with y when x and y are logically or statistically related to one another.
is associated with
A relation between two objects, in which the first object contains information that is used to produce the second object.
encodes
an open reading frame encodes a protein (it contains information that specifies the amino acid composition and topology)
A relation between two objects, in which the first object is produced from the information contained in the second object.
is encoded by
Drug-Phenotype Side Effect Has Phenotype
Phenotype For Drug-Phenotype Side Effect
The highest phase the molecule has reached in drug approval process (4 = approved)
Type of action of the drug on the target e.g., agonist/antagonist etc (foreign key to action_type table)
Protein sequence for given ChEMBL entity
Describes whether target is a protein, an organism, a tissue etc.
A relation between a informational entity and its actual value (numeric, date, text, etc).
sadi
has value
A CTD association between a chemical and a disease
A CTD association between a chemical and a disease [ctd_vocabulary:Chemical-Disease-Association]
Congenital Abnormality
UMLS Semantic Type (STY) [umls:T019] annotated to at least one disease in DisGeNET. STYs are identified by the UMLS TUI.
Congenital Abnormality [umls:T019]
Acquired Abnormality
UMLS Semantic Type (STY) [umls:T020] annotated to at least one disease in DisGeNET. STYs are identified by the UMLS TUI.
Acquired Abnormality [umls:T020]
Cell Component
UMLS Semantic Type (STY) [umls:T026] annotated to at least one disease in DisGeNET. STYs are identified by the UMLS TUI.
Cell Component [umls:T026]
Body Substance
UMLS Semantic Type (STY) [umls:T031] annotated to at least one disease in DisGeNET. STYs are identified by the UMLS TUI.
Body Substance [umls:T031]
Organism Attribute
UMLS Semantic Type (STY) [umls:T032] annotated to at least one disease in DisGeNET. STYs are identified by the UMLS TUI.
Organism Attribute [umls:T032]
Finding
UMLS Semantic Type (STY) [umls:T033] annotated to at least one disease in DisGeNET. STYs are identified by the UMLS TUI.
Finding [umls:T033]
Laboratory or Test Result
UMLS Semantic Type (STY) [umls:T034] annotated to at least one disease in DisGeNET. STYs are identified by the UMLS TUI.
Laboratory or Test Result [umls:T034]
Injury or Poisoning
UMLS Semantic Type (STY) [umls:T037] annotated to at least one disease in DisGeNET. STYs are identified by the UMLS TUI.
Injury or Poisoning [umls:T037]
Physiologic Function
UMLS Semantic Type (STY) [umls:T039] annotated to at least one disease in DisGeNET. STYs are identified by the UMLS TUI.
Physiologic Function [umls:T039]
Organism Function
UMLS Semantic Type (STY) [umls:T040] annotated to at least one disease in DisGeNET. STYs are identified by the UMLS TUI.
Organism Function [umls:T040]
Mental Process
UMLS Semantic Type (STY) [umls:T041] annotated to at least one disease in DisGeNET. STYs are identified by the UMLS TUI.
Mental Process [umls:T041]
Organ or Tissue Function
UMLS Semantic Type (STY) [umls:T042] annotated to at least one disease in DisGeNET. STYs are identified by the UMLS TUI.
Organ or Tissue Function [umls:T042]
Cell Function
UMLS Semantic Type (STY) [umls:T043] annotated to at least one disease in DisGeNET. STYs are identified by the UMLS TUI.
Cell Function [umls:T043]
Molecular Function
UMLS Semantic Type (STY) [umls:T044] annotated to at least one disease in DisGeNET. STYs are identified by the UMLS TUI.
Molecular Function [umls:T044]
Pathologic Function
UMLS Semantic Type (STY) [umls:T046] annotated to at least one disease in DisGeNET. STYs are identified by the UMLS TUI.
Pathologic Function [umls:T046]
Disease or Syndrome
UMLS Semantic Type (STY) [umls:T047] annotated to at least one disease in DisGeNET. STYs are identified by the UMLS TUI.
Disease or Syndrome [umls:T047]
Mental or Behavioral Dysfunction
UMLS Semantic Type (STY) [umls:T048] annotated to at least one disease in DisGeNET. STYs are identified by the UMLS TUI.
Mental or Behavioral Dysfunction [umls:T048]
Cell or Molecular Dysfunction
UMLS Semantic Type (STY) [umls:T049] annotated to at least one disease in DisGeNET. STYs are identified by the UMLS TUI.
Cell or Molecular Dysfunction [umls:T049]
Experimental Model of Disease
UMLS Semantic Type (STY) [umls:T050] annotated to at least one disease in DisGeNET. STYs are identified by the UMLS TUI.
Experimental Model of Disease [umls:T050]
Social Behavior
UMLS Semantic Type (STY) [umls:T054] annotated to at least one disease in DisGeNET. STYs are identified by the UMLS TUI.
Social Behavior [umls:T054]
Individual Behavior
UMLS Semantic Type (STY) [umls:T055] annotated to at least one disease in DisGeNET. STYs are identified by the UMLS TUI.
Individual Behavior [umls:T055]
Laboratory Procedure
UMLS Semantic Type (STY) [umls:T059] annotated to at least one disease in DisGeNET. STYs are identified by the UMLS TUI.
Laboratory Procedure [umls:T059]
Diagnostic Procedure
UMLS Semantic Type (STY) [umls:T060] annotated to at least one disease in DisGeNET. STYs are identified by the UMLS TUI.
Diagnostic Procedure [umls:T060]
Temporal Concept
UMLS Semantic Type (STY) [umls:T079] annotated to at least one disease in DisGeNET. STYs are identified by the UMLS TUI.
Temporal Concept [umls:T079]
Amino Acid, Peptide, or Protein
UMLS Semantic Type (STY) [umls:T116] annotated to at least one disease in DisGeNET. STYs are identified by the UMLS TUI.
Amino Acid, Peptide, or Protein [umls:T116]
Immunologic Factor
UMLS Semantic Type (STY) [umls:T129] annotated to at least one disease in DisGeNET. STYs are identified by the UMLS TUI.
Immunologic Factor [umls:T129]
Sign or Symptom
UMLS Semantic Type (STY) [umls:T184] annotated to at least one disease in DisGeNET. STYs are identified by the UMLS TUI.
Sign or Symptom [umls:T184]
Classification
UMLS Semantic Type (STY) [umls:T185] annotated to at least one disease in DisGeNET. STYs are identified by the UMLS TUI.
Classification [umls:T185]
Anatomical Abnormality
UMLS Semantic Type (STY) [umls:T190] annotated to at least one disease in DisGeNET. STYs are identified by the UMLS TUI.
Anatomical Abnormality [umls:T190]
Neoplastic Process
UMLS Semantic Type (STY) [umls:T191] annotated to at least one disease in DisGeNET. STYs are identified by the UMLS TUI.
Neoplastic Process [umls:T191]
Clinical Attribute
UMLS Semantic Type (STY) [umls:T201] annotated to at least one disease in DisGeNET. STYs are identified by the UMLS TUI.
Clinical Attribute [umls:T201]
A living thing, such as an animal, a plant, a bacterium, or a fungus.
Any individual living (or previously living) being. EXAMPLE(S): animal, human being
A functional unit of heredity that occupies a specific position (locus) on a particular chromosome, is capable of reproducing itself exactly at each cell division, and directs the formation of a protein or other product. Comment Requested: In interest of re-using existing standards, should the above definition of Gene be replaced by the following from the NLM - The basic physical and functional unit of heredity. It is made up of DNA and act as instructions to make molecules called proteins. [Source: http://ghr.nlm.nih.gov/handbook/basics/gene] EXAMPLE(S): BRCA1 gene OTHER NAME(S): NOTE(S):
The functional and physical unit of heredity passed from parent to offspring. Genes are pieces of DNA, and most genes contain the information for making a specific protein.
A functional unit of heredity which occupies a specific position on a particular chromosome and serves as the template for a product that contributes to a phenotype or a biological function.
The gene as a functional unit consists of a discrete segment of a giant DNA molecule containing the purine (adenine and guanine) and pyrimidine (cytosine and thymine) bases in the ordered and correct sequence that encodes a specific functional product (i.e., a protein or RNA molecule).
A molecule made up of amino acids that are needed for the body to function properly. Proteins are the basis of body structures such as skin and hair and of substances such as enzymes, cytokines, and antibodies.
A representation of an organic macromolecule in public resources (e.g., UniProt or NCBI RefSeq) composed of one or more chains (linear polymers) of alpha-L-amino acids linked by peptide bonds and ranging in size from a few thousand to over 1 million Daltons. Comment Requested: In interest of re-using existing standards, should the above definition of Protein be replaced by the following from the NLM -- : A molecule made up of amino acids that are needed for the body to function properly. Proteins are the basis of body structures such as skin and hair and of substances such as enzymes, cytokines, and antibodies. [Source: http://ghr.nlm.nih.gov/glossary=protein] EXAMPLE(S): A protein record from UniProt Knowledgebase: http://www.uniprot.org/uniprot/P38398 OTHER NAME(S): NOTE(S):
A group of complex organic macromolecules composed of one or more chains (linear polymers) of alpha-L-amino acids linked by peptide bonds and ranging in size from a few thousand to over 1 million Daltons. Proteins are fundamental genetically encoded components of living cells with specific structures and functions dictated by amino acid sequence.
Specific molecular signature of disease, physiological measurement, genotype structural or functional characteristic, metabolic changes, or other determinant that may simplify the diagnostic process, make diagnoses more accurate, distinguish different causes of disease, or enable physicians to make diagnoses before symptoms appear and to track disease progression.
Temporary, non-covalent binding between protein molecules. Protein-protein interactions occur as a result of intermolecular physical forces and spatial complementation between domains or motifs. This interaction can be either homotypic or heterotypic and effect protein structure, conformation, and function.
A number or range of numeric values that assess and order a result or response for purposes of comparison.
A number or range of numeric values measuring performance, function, quality, or ability.
The product of so-called RNA genes; a functional RNA represents the final product of a gene rather than a transient molecule that will be translated into protein.
A conventional sign used for representing the gene, based on the identified source. EXAMPLE(S): As a string with an optional code, an example of Gene.symbol is as follows: the value "BRCA1" is both the string and the code and the code system name is "HGNC". OTHER NAME(S): NOTE(S):
A unique gene name approved by an organism specific nomenclature committee.
A condition that is relevant to human neoplasms and non-neoplastic disorders. This includes observations, test results, history and other concepts relevant to the characterization of human pathologic conditions.
All noxious and unintended responses to a medicinal product related to any dose should be considered adverse drug reactions (from US FDA 'Guideline for Industry, Clinical Safety Data Management: Definitions and Standards for Expedited Reporting'). All noxious and unintended responses to a medicinal product related to any dose should be considered adverse drug reactions (from US FDA Guideline for Industry, Clinical Safety Data Management: Definitions and Standards for Expedited Reporting).
Drug reaction Adverse reaction caused by drug (disorder) ADR - Adverse drug reaction Adverse reaction to medication Adverse reaction caused by drug Adverse drug effect Adverse drug reaction
This is the root of the phenotypic abnormality subontology of the HPO.
A sequence_variant is a non exact copy of a sequence_feature or genome exhibiting one or more sequence_alteration.
A concept is term that refers to a generalization of a set of attributes or entities.
concept
A sequence start position is the start position for a sequence of characters.
sequence start position
An assocation is a relationship between two or more entities derived by some informational analysis.
association
A chromosome is a molecular complex of circular or linear DNA and bound proteins.
chromosome
A gene-disease association is an association between a gene and a disease.
gene-disease association
A drug-drug interaction is an interaction in which two drugs interact in such a way to produce a non-additive biological response.
drug drug interaction
DisGeNET Disease specificity is a measure of disease coverage. It is calculated from the negative base 2 log of the ratio of number of diseases associated to the total number of diseases. The measure is described here: http://www.disgenet.org/web/DisGeNET/menu/dbinfo#specificity
DisGeNET disease specificity
The DisGeNET pleiotropy index is a measure of specificity as it pertains to classes of disease. The disease pleotropy index is computed from the ratio of the number of disease classes associated with an entity over the total number of disease classes multplied by 100. The measure is defined here: http://www.disgenet.org/web/DisGeNET/menu/dbinfo#pleiotropy
DisGeNET Pleiotropy Index
A biological process representing a set of interactions and relationships among genes, proteins, metabolites, and other factors in the context of cellular compartments, tissues and organisms.
Pathway
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
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
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
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
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
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
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
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
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
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
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
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
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
This relationship indicates that a genomic alteration is linked to the gene associated with the disease phenotype.
Genomic Alterations Association
DTO protein class [dto:DTO_00102000] in which at least one gene in DisGeNET is classified to. Protein classes are identified by the DTO id.
DTO protein class [dto:DTO_01300327] in which at least one gene in DisGeNET is classified to. Protein classes are identified by the DTO id.
DTO protein class [dto:DTO_02300001] in which at least one gene in DisGeNET is classified to. Protein classes are identified by the DTO id.
DTO protein class [dto:DTO_03300101] in which at least one gene in DisGeNET is classified to. Protein classes are identified by the DTO id.
DTO protein class [dto:DTO_05007378] in which at least one gene in DisGeNET is classified to. Protein classes are identified by the DTO id.
DTO protein class [dto:DTO_05007405] in which at least one gene in DisGeNET is classified to. Protein classes are identified by the DTO id.
DTO protein class [dto:DTO_05007527] in which at least one gene in DisGeNET is classified to. Protein classes are identified by the DTO id.
DTO protein class [dto:DTO_05007530] in which at least one gene in DisGeNET is classified to. Protein classes are identified by the DTO id.
DTO protein class [dto:DTO_05007542] in which at least one gene in DisGeNET is classified to. Protein classes are identified by the DTO id.
DTO protein class [dto:DTO_05007557] in which at least one gene in DisGeNET is classified to. Protein classes are identified by the DTO id.
DTO protein class [dto:DTO_05007575] in which at least one gene in DisGeNET is classified to. Protein classes are identified by the DTO id.
DTO protein class [dto:DTO_05007584] in which at least one gene in DisGeNET is classified to. Protein classes are identified by the DTO id.
DTO protein class [dto:DTO_05007599] in which at least one gene in DisGeNET is classified to. Protein classes are identified by the DTO id.
DTO protein class [dto:DTO_05007608] in which at least one gene in DisGeNET is classified to. Protein classes are identified by the DTO id.
DTO protein class [dto:DTO_05007612] in which at least one gene in DisGeNET is classified to. Protein classes are identified by the DTO id.
DTO protein class [dto:DTO_05007613] in which at least one gene in DisGeNET is classified to. Protein classes are identified by the DTO id.
DTO protein class [dto:DTO_05007616] in which at least one gene in DisGeNET is classified to. Protein classes are identified by the DTO id.
DTO protein class [dto:DTO_05007620] in which at least one gene in DisGeNET is classified to. Protein classes are identified by the DTO id.
DTO protein class [dto:DTO_05007621] in which at least one gene in DisGeNET is classified to. Protein classes are identified by the DTO id.
DTO protein class [dto:DTO_05007624] in which at least one gene in DisGeNET is classified to. Protein classes are identified by the DTO id.
DTO protein class [dto:DTO_05007697] in which at least one gene in DisGeNET is classified to. Protein classes are identified by the DTO id.
Number of newly diagnosed cases in a population in 1 year.
A collection of clinical entities sharing a set of common features.
Refers to a country, a continent or the whole world.
A disease-ncRNA association is an association between a disease and an untranslated RNA (ncRNA).
A disease-phenotype association is an association between disease and a phenotype, which corresponds to a subjective evidence of disease perceived by the patient.
Association between a disease and a genetic variant.
Drug-disease associations refer to the effects that can be induced by the interaction between a drug and a disease.
Drug Disease Associations not classifed as Therapeutic or Marker which are given an associated inferred score.
Drug that acts like a marker when associated with a disease. A chemical that correlates with a disease or may play a role in the etiology of a disease.
Drug that has a therapeutic effect when associated with a disease. The drug is used to treat the disease in order to reduce or eliminate its symptoms.
Relationship between the desirable measurable effects that cause changes in a patient's phenotype and the response to treatment with a drug which is indicated to treat them.
Secondary and undesirable measurable effects that cause patient phenotype changes in response to the treatment with a drug.
Association between a drug and a target in order to achieve disease treatment by different action types or mechanism of action.
Observable and detectable signs in a patient due to the effects caused by a disease or a drug causing changes in their original appearence.
Association between two proteins by physical contacts of high specificity that occur in a specific molecular context with a certain confidence value.
Association between an oprhan disease and the incidence according to the geographical location.