Human Interaction Network Ontology

Last uploaded: June 27, 2014
Preferred Name

Disease

Definitions

Biological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular viewpoint, human disease pathways have three mechanistic causes: the inclusion of microbially-expressed proteins, altered functions of human proteins, or changed expression levels of otherwise functionally normal human proteins.<p>The first group encompasses the infectious diseases such as influenza, tuberculosis and HIV infection. The second group involves human proteins modified either by a mutation or by an abnormal post-translational event that produces an aberrant protein with a novel function. Examples include somatic mutations of EGFR and FGFR (epidermal and fibroblast growth factor receptor) genes, which encode constitutively active receptors that signal even in the absence of their ligands, or the somatic mutation of IDH1 (isocitrate dehydrogenase 1) that leads to an enzyme active on 2-oxoglutarate rather than isocitrate, or the abnormal protein aggregations of amyloidosis which lead to diseases such as Alzheimer's.<p>Infectious diseases are represented in Reactome as microbial-human protein interactions and the consequent events. The existence of variant proteins and their association with disease-specific biological processes is represented by inclusion of the modified protein in a new or variant reaction, an extension to the 'normal' pathway. Diseases which result from proteins performing their normal functions but at abnormal rates can also be captured, though less directly. Many mutant alleles encode proteins that retain their normal functions but have abnormal stabilities or catalytic efficiencies, leading to normal reactions that proceed to abnormal extents. The phenotypes of such diseases can be revealed when pathway annotations are combined with expression or rate data from other sources.

ID

http://purl.obolibrary.org/obo/HINO_0015722

comment

Biological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular viewpoint, human disease pathways have three mechanistic causes: the inclusion of microbially-expressed proteins, altered functions of human proteins, or changed expression levels of otherwise functionally normal human proteins.

The first group encompasses the infectious diseases such as influenza, tuberculosis and HIV infection. The second group involves human proteins modified either by a mutation or by an abnormal post-translational event that produces an aberrant protein with a novel function. Examples include somatic mutations of EGFR and FGFR (epidermal and fibroblast growth factor receptor) genes, which encode constitutively active receptors that signal even in the absence of their ligands, or the somatic mutation of IDH1 (isocitrate dehydrogenase 1) that leads to an enzyme active on 2-oxoglutarate rather than isocitrate, or the abnormal protein aggregations of amyloidosis which lead to diseases such as Alzheimer's.

Infectious diseases are represented in Reactome as microbial-human protein interactions and the consequent events. The existence of variant proteins and their association with disease-specific biological processes is represented by inclusion of the modified protein in a new or variant reaction, an extension to the 'normal' pathway. Diseases which result from proteins performing their normal functions but at abnormal rates can also be captured, though less directly. Many mutant alleles encode proteins that retain their normal functions but have abnormal stabilities or catalytic efficiencies, leading to normal reactions that proceed to abnormal extents. The phenotypes of such diseases can be revealed when pathway annotations are combined with expression or rate data from other sources.

definition source

Reactome, http://www.reactome.org

label

Disease

located_in

http://purl.obolibrary.org/obo/NCBITaxon_9606

prefixIRI

HINO:0015722

prefLabel

Disease

seeAlso

ReactomeREACT_116125

Reactome Database ID Release 431643685

has_part

http://purl.obolibrary.org/obo/HINO_0016280

http://purl.obolibrary.org/obo/HINO_0016075

http://purl.obolibrary.org/obo/HINO_0015696

http://purl.obolibrary.org/obo/HINO_0015721

http://purl.obolibrary.org/obo/HINO_0016018

http://purl.obolibrary.org/obo/HINO_0016282

http://purl.obolibrary.org/obo/HINO_0016053

http://purl.obolibrary.org/obo/HINO_0016283

http://purl.obolibrary.org/obo/HINO_0015991

http://purl.obolibrary.org/obo/HINO_0016076

http://purl.obolibrary.org/obo/HINO_0015996

subClassOf

http://purl.obolibrary.org/obo/INO_0000021

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http://www.semanticweb.org/ontologies/2012/8/Ontology1348158066194.owl#OWLClass_00000012615273587629 ELIG LOOM
http://purl.obolibrary.org/obo/DERMO_0000000 DERMO LOOM
http://www.owl-ontologies.com/Ontology1435740495.owl#Disease OF LOOM
http://purl.obolibrary.org/obo/OBI_1110055 NEOMARK4 LOOM
http://purl.obolibrary.org/obo/MI_0617 MI LOOM
http://purl.obolibrary.org/obo/MI_0617 MI LOOM
http://purl.obolibrary.org/obo/MI_0617 MI LOOM
http://bioontology.org/projects/ontologies/birnlex#birnlex_11013 BIRNLEX LOOM
http://www.w3.org/2001/sw/hcls/ns/transmed/TMO_0047 TMO LOOM
http://www.ifomis.org/acgt/1.0#Disease ACGT-MO LOOM
http://dbpedia.org/ontology/Disease DCO LOOM
http://purl.jp/bio/4/id/201606017936711318 IOBC LOOM
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http://chem2bio2rdf.org/chem2bio2rdf.owl#Disease CHEMBIO LOOM
http://scai.fraunhofer.de/CSEO#CSEO_10000024 CSEO LOOM
http://purl.bioontology.org/ontology/ICPC2P/A99001 ICPC2P LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0012634 OCHV LOOM
http://purl.obolibrary.org/obo/ExO_0000079 EXO LOOM
http://www.onto-med.de/ontologies/gfo-persian-medicine-diseases.owl#Disease PMD LOOM
http://www.semanticweb.org/ontologies/2010/2/MiRNA-Ontology.owl#Disease NEUMORE LOOM
http://www.semanticweb.org/ontologies/2010/2/MiRNA-Ontology.owl#Disease PVONTO LOOM
http://www.case.edu/EpSO.owl#Disease EPSO LOOM
http://www.projecthalo.com/aura#Disease AURA LOOM
http://www.semanticweb.org/parracarlos/ontologies/2019/3/untitled-ontology-31#Disease ADHER_INTCARE_EN LOOM
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http://phenomebrowser.net/ontologies/mesh/mesh.owl#C23.550.288 RH-MESH LOOM
http://brd.bsvgateway.org/api/disease/ ABD LOOM
http://www.orpha.net/ORDO/Orphanet_377788 ORDO LOOM
http://www.orpha.net/ORDO/Orphanet_377788 ORDO LOOM
http://purl.obolibrary.org/obo/TRAK_0000205 TRAK LOOM
http://www.shojaee.com/shr/shr.owl#Disease SHR LOOM
http://purl.bioontology.org/ontology/PMR.owl#Disease PMR LOOM
http://www.owl-ontologies.com/Ontology1239104585.owl#Disease BCGO LOOM
http://chem.deri.ie/granatum#Disease CANCO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/64572001 SNOMEDCT LOOM
http://sweetontology.net/phenBiol/Disease SWEET LOOM
http://sweetontology.net/phenBiol/Disease SWEET LOOM
http://sweetontology.net/phenBiol/Disease SWEET LOOM
http://purl.bioontology.org/ontology/MESH/D004194 MESH LOOM
http://purl.bioontology.org/ontology/RCD/X76AZ RCD LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#disease EPISEM LOOM
http://scai.fraunhofer.de/NDDUO#disease ADO LOOM
http://www.bioassayontology.org/bao#BAO_0002927 BAO LOOM
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http://purl.obolibrary.org/obo/DOID_4 DTO LOOM
http://purl.obolibrary.org/obo/DOID_4 DUO LOOM
http://purl.obolibrary.org/obo/DOID_4 VO LOOM
http://purl.obolibrary.org/obo/DOID_4 CHEAR LOOM
http://purl.obolibrary.org/obo/DOID_4 CLO LOOM
http://purl.obolibrary.org/obo/DOID_4 GENEPIO LOOM
http://purl.obolibrary.org/obo/DOID_4 NCRO LOOM
http://purl.obolibrary.org/obo/DOID_4 EUPATH LOOM
http://purl.obolibrary.org/obo/DOID_4 OHMI LOOM
http://purl.obolibrary.org/obo/DOID_4 ODAE LOOM
http://purl.obolibrary.org/obo/DOID_4 DOID LOOM
http://purl.obolibrary.org/obo/DOID_4 GENEPIO LOOM
http://purl.obolibrary.org/obo/DOID_4 TXPO LOOM
http://purl.obolibrary.org/obo/DOID_4 BAO LOOM
http://purl.obolibrary.org/obo/DOID_4 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_4 OLAM LOOM
http://purl.obolibrary.org/obo/DOID_4 VICO LOOM
http://purl.obolibrary.org/obo/DOID_4 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_4 OMIT LOOM
http://purl.obolibrary.org/obo/DOID_4 DIAB LOOM
http://purl.obolibrary.org/obo/DOID_4 OHPI LOOM
http://purl.bioontology.org/ontology/GSSO/000486 GSSO LOOM
http://purl.bioontology.org/ontology/GSSO/000486 GSSO LOOM
http://purl.bioontology.org/ontology/GSSO/000486 GSSO LOOM
http://purl.bioontology.org/ontology/GSSO/000486 GSSO LOOM
http://purl.bioontology.org/ontology/GSSO/000486 GSSO LOOM
http://scdontology.h3abionet.org/ontology/SCDO_0001365 SCDO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 RETO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 FASTO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 OBI_BCGO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 HUPSON LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 GEXO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 OHD LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 VDOT LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 VO LOOM
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http://purl.obolibrary.org/obo/OGMS_0000031 OBIB LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 PDRO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 GENEPIO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 DDIEM LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 PLANP LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 MFMO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 OBOREL LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 DDO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 EUPATH LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 REXO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 OPMI LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 AGRO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 ORTH LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 IDO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 SDO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 DDIEM LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 MFOMD LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 GENEPIO LOOM
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http://purl.obolibrary.org/obo/OGMS_0000031 APOLLO-SV LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 VSO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 OBI LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 NDDO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 HTN LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 ONS LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 NIFDYS LOOM
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http://purl.obolibrary.org/obo/OGMS_0000031 OBI_IEE LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 OPMI LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 NIFSTD LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 ONSTR LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 OBI LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 DMTO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 MIRNAO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 OGMS LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 OAE LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 OHPI LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_11013 NIFDYS LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_11013 NIFSTD LOOM
http://www.semanticweb.org/dellvostro3750/ontologies/2018/2/untitled-ontology-10#disease HP_O LOOM
http://pgxo.loria.fr/Disease PGXO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D004194 RH-MESH LOOM
http://semanticscience.org/resource/Disease CHEAR LOOM
http://semanticscience.org/resource/Disease HASCO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#4014 OCHV LOOM
http://doe-generated-ontology.com/OntoAD#C0012634 ONTOAD LOOM
http://purl.bioontology.org/ontology/LNC/LA18199-2 LOINC LOOM
http://purl.obolibrary.org/obo/IEV_0000075 PTS LOOM
http://www.bootstrep.eu/ontology/GRO#Disease GRO LOOM
http://purl.bioontology.org/ontology/LNC/LP21006-9 LOINC LOOM
http://scai.fraunhofer.de/CSEO#CSEO_00000971 CSEO LOOM
http://semanticscience.org/resource/SIO_010299 ORTH LOOM
http://semanticscience.org/resource/SIO_010299 BIOMO LOOM
http://semanticscience.org/resource/SIO_010299 HHEAR LOOM
http://semanticscience.org/resource/SIO_010299 SIO LOOM
http://www.ebi.ac.uk/efo/EFO_0000408 CLO LOOM
http://www.ebi.ac.uk/efo/EFO_0000408 EFO LOOM
http://www.ebi.ac.uk/efo/EFO_0000408 CCONT LOOM
http://www.ebi.ac.uk/efo/EFO_0000408 EFO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Disease ESSO LOOM
http://purl.org/autism-ontology/1.0/autism-core.owl#AUTISMC1000038 ADAR LOOM