{ "uniprot_canonical_ac": "O95760-1", "uniprot_ac": "O95760", "uniprot_id": "IL33_HUMAN", "mass": { "chemical_mass": 30759.0, "monoisotopic_mass": 30759.0 }, "refseq": { "ac": "NP_001186569", "name": "interleukin-33 isoform b", "summary": "The protein encoded by this gene is a cytokine that binds to the IL1RL1/ST2 receptor. The encoded protein is involved in the maturation of Th2 cells and the activation of mast cells, basophils, eosinophils and natural killer cells. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186569" }, "gene_names": [ { "name": "IL33", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95760", "id": "O95760" }, { "name": "C9orf26; DVS27; IL1F11; NF-HEV; NFEHEV", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186569", "id": "NP_001186569" }, { "name": "C9orf26", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95760", "id": "O95760" }, { "name": "IL1F11", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95760", "id": "O95760" }, { "name": "IL33", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186569", "id": "NP_001186569" }, { "name": "NFHEV", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95760", "id": "O95760" } ], "protein_names": [ { "name": "Interleukin-33", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95760" }, { "name": "DVS27-related protein; nuclear factor for high endothelial venules; nuclear factor from high endothelial venules; interleukin-1 family member 11", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186569", "id": "NP_001186569" }, { "name": "IL-1F11", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95760" }, { "name": "IL-33", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95760" }, { "name": "Interleukin-1 family member 11", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95760" }, { "name": "NF-HEV", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95760" }, { "name": "Nuclear factor from high endothelial venules", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95760" }, { "name": "interleukin-33 isoform b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186569", "id": "NP_001186569" } ], "function": [ { "annotation": "A Deep View of the Biological Property of Interleukin-33 and Its Dysfunction in the Gut. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001186569", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186569" }, { "database": "PubMed", "id": "37686309", "url": "https://glygen.org/publication/PubMed/37686309" } ] }, { "annotation": "Cytokine that binds to and signals through the IL1RL1/ST2 receptor which in turn activates NF-kappa-B and MAPK signaling pathways in target cells (PubMed:16286016, PubMed:19841166). Involved in the maturation of Th2 cells inducing the secretion of T-helper type 2-associated cytokines (PubMed:17853410, PubMed:18836528). Also involved in activation of mast cells, basophils, eosinophils and natural killer cells (PubMed:17853410, PubMed:18836528). Acts as an enhancer of polarization of alternatively activated macrophages (PubMed:19841166). Acts as a chemoattractant for Th2 cells, and may function as an 'alarmin', that amplifies immune responses during tissue injury (PubMed:17853410, PubMed:18836528). Induces rapid UCP2-dependent mitochondrial rewiring that attenuates the generation of reactive oxygen species and preserves the integrity of Krebs cycle required for persistent production of itaconate and subsequent GATA3-dependent differentiation of inflammation-resolving alternatively activated macrophages (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760#function" }, { "database": "PubMed", "id": "17853410", "url": "https://glygen.org/publication/PubMed/17853410" }, { "database": "PubMed", "id": "18836528", "url": "https://glygen.org/publication/PubMed/18836528" }, { "database": "PubMed", "id": "16286016", "url": "https://glygen.org/publication/PubMed/16286016" }, { "database": "UniProtKB", "id": "Q8BVZ5", "url": "https://www.uniprot.org/uniprot/Q8BVZ5#function" }, { "database": "PubMed", "id": "19841166", "url": "https://glygen.org/publication/PubMed/19841166" } ] }, { "annotation": "Exploring the significance of interleukin-33/ST2 axis in minimal change disease. Erratum:[Sci Rep. 2023 Nov 24;13(1):20666. PMID: 38001138] Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001186569", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186569" }, { "database": "PubMed", "id": "37907612", "url": "https://glygen.org/publication/PubMed/37907612" } ] }, { "annotation": "IL-33, which mediates its biological effects via IL-1 receptor ST 2, activates NF-kappaB and MAP kinases, and drives production of T(H)2-associated cytokines from in vitro polarized T(H)2 cells", "evidence": [ { "database": "RefSeq", "id": "NP_001186569", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186569" }, { "database": "PubMed", "id": "16286016", "url": "https://glygen.org/publication/PubMed/16286016" } ] }, { "annotation": "IL-33-ST2 signaling promotes stemness in subtypes of myeloid leukemia cells through the Wnt and Notch pathways.", "evidence": [ { "database": "RefSeq", "id": "NP_001186569", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186569" }, { "database": "PubMed", "id": "37643244", "url": "https://glygen.org/publication/PubMed/37643244" } ] }, { "annotation": "In quiescent endothelia the uncleaved form is constitutively and abundantly expressed, and acts as a chromatin-associated nuclear factor with transcriptional repressor properties, it may sequester nuclear NF-kappaB/RELA, lowering expression of its targets (PubMed:21734074). This form is rapidely lost upon angiogenic or pro-inflammatory activation (PubMed:18787100).", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760#function" }, { "database": "PubMed", "id": "21734074", "url": "https://glygen.org/publication/PubMed/21734074" }, { "database": "PubMed", "id": "18787100", "url": "https://glygen.org/publication/PubMed/18787100" } ] }, { "annotation": "LTR-IL-33 expression is required for optimal CRC cell line growth Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001186569", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186569" }, { "database": "PubMed", "id": "28715472", "url": "https://glygen.org/publication/PubMed/28715472" } ] }, { "annotation": "Modulation of Neuroinflammation: Advances in Roles and Mechanisms of the IL-33/ST2 Axis Involved in Ischemic Stroke. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001186569", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186569" }, { "database": "PubMed", "id": "37729881", "url": "https://glygen.org/publication/PubMed/37729881" } ] }, { "annotation": "Relation between serum interleukin 33 concentration, depressive symptoms, and sleep quality in inflammatory bowel disease.", "evidence": [ { "database": "RefSeq", "id": "NP_001186569", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186569" }, { "database": "PubMed", "id": "37622484", "url": "https://glygen.org/publication/PubMed/37622484" } ] }, { "annotation": "Results suggest that NF-HEV may be one of the key nuclear factors that controls the specialized phenotype of the lymphatic venule endothelium.", "evidence": [ { "database": "RefSeq", "id": "NP_001186569", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186569" }, { "database": "PubMed", "id": "12819012", "url": "https://glygen.org/publication/PubMed/12819012" } ] }, { "annotation": "The protein encoded by this gene is a cytokine that binds to the IL1RL1/ST2 receptor. The encoded protein is involved in the maturation of Th2 cells and the activation of mast cells, basophils, eosinophils and natural killer cells. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_001186569", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186569" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 144, "end_pos": 144, "sequence_org": "E", "sequence_mut": "K", "comment": "Decreases affinity for IL1RL1.", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" }, { "database": "PubMed", "id": "23980170", "url": "https://glygen.org/publication/PubMed/23980170" } ] }, { "start_pos": 148, "end_pos": 148, "sequence_org": "E", "sequence_mut": "K", "comment": "7-fold decrease in affinity for IL1RL1.", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" }, { "database": "PubMed", "id": "23980170", "url": "https://glygen.org/publication/PubMed/23980170" } ] }, { "start_pos": 149, "end_pos": 149, "sequence_org": "D", "sequence_mut": "K", "comment": "Almost abolishes binding to IL1RL1.", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" }, { "database": "PubMed", "id": "23980170", "url": "https://glygen.org/publication/PubMed/23980170" } ] }, { "start_pos": 165, "end_pos": 165, "sequence_org": "E", "sequence_mut": "K", "comment": "8-fold decrease in affinity for IL1RL1.", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" }, { "database": "PubMed", "id": "23980170", "url": "https://glygen.org/publication/PubMed/23980170" } ] }, { "start_pos": 244, "end_pos": 244, "sequence_org": "D", "sequence_mut": "K", "comment": "Decreases affinity for IL1RL1.", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" }, { "database": "PubMed", "id": "23980170", "url": "https://glygen.org/publication/PubMed/23980170" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "62.33", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000137033", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137033" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "75.45", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000137033", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137033" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "79.4", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000137033", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137033" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "68.82", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000137033", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137033" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "93.49", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000137033", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137033" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "90.34", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000137033", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137033" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000137033", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137033" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "87.64", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000137033", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137033" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "82.96", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000137033", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137033" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "80.59", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000137033", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137033" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "82.5", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000137033", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137033" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "85.42", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000137033", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137033" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "84.04", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000137033", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137033" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95760", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95760" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", 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"resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O95760", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95760" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O95760", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95760" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O95760", "url": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95760" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O95760", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95760" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O95760", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95760" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O95760", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95760" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O95760", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95760" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O95760", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95760" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": 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Blood Flow Metab.", "date": "1999", "authors": "Onda H, Kasuya H, Takakura K, Hori T, Imaizumi T, Takeuchi T, Inoue I, Takeda J", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" } ], "reference": [ { "type": "PubMed", "id": "10566975", "url": "https://glygen.org/publication/PubMed/10566975" } ] }, { "title": "A deubiquitinating enzyme UBPY interacts with the Src homology 3 domain of Hrs-binding protein via a novel binding motif PX(V/I)(D/N)RXXKP.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Kato M, Miyazawa K, Kitamura N", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "10982817", "url": "https://glygen.org/publication/PubMed/10982817" } ] }, { "title": "A novel active site-directed probe specific for deubiquitylating enzymes reveals proteasome association of USP14.", "journal": "The EMBO journal", "date": "2001", "authors": "Borodovsky A, Kessler BM, Casagrande R, Overkleeft HS, Wilkinson KD, Ploegh HL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "11566882", "url": "https://glygen.org/publication/PubMed/11566882" } ] }, { "title": "Rac1 and RhoG promote cell survival by the activation of PI3K and Akt, independently of their ability to stimulate JNK and NF-kappaB.", "journal": "Oncogene", "date": "2002", "authors": "Murga C, Zohar M, Teramoto H, Gutkind JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-1257604", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1257604" } ], "reference": [ { "type": "PubMed", "id": "11803464", "url": "https://glygen.org/publication/PubMed/11803464" } ] }, { "title": "Deubiquitination of p53 by HAUSP is an important pathway for p53 stabilization.", "journal": "Nature", "date": "2002", "authors": "Li M, Chen D, Shiloh A, Luo J, Nikolaev AY, Qin J, Gu W", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "11923872", "url": "https://glygen.org/publication/PubMed/11923872" } ] }, { "title": "Multiple phosphoinositide 3-kinase-dependent steps in activation of protein kinase B.", "journal": "Molecular and cellular biology", "date": "2002", "authors": "Scheid MP, Marignani PA, Woodgett JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-1257604", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1257604" } ], "reference": [ { "type": "PubMed", "id": "12167717", "url": "https://glygen.org/publication/PubMed/12167717" } ] }, { "title": "Threonine 308 phosphorylated form of Akt translocates to the nucleus of PC12 cells under nerve growth factor stimulation and associates with the nuclear matrix protein nucleolin.", "journal": "Journal of cellular physiology", "date": "2003", "authors": "Borgatti P, Martelli AM, Tabellini G, Bellacosa A, Capitani S, Neri LM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1257604", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1257604" } ], "reference": [ { "type": "PubMed", "id": "12767043", "url": "https://glygen.org/publication/PubMed/12767043" } ] }, { "title": "Molecular characterization of NF-HEV, a nuclear factor preferentially expressed in human high endothelial venules.", "journal": "Am. 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"title": "The tumour suppressor CYLD negatively regulates NF-kappaB signalling by deubiquitination.", "journal": "Nature", "date": "2003", "authors": "Kovalenko A, Chable-Bessia C, Cantarella G, Israel A, Wallach D, Courtois G", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "12917691", "url": "https://glygen.org/publication/PubMed/12917691" } ] }, { "title": "Regulation of protein serine-threonine phosphatase type-2A by tyrosine phosphorylation.", "journal": "Science (New York, N.Y.)", "date": "1992", "authors": "Chen J, Martin BL, Brautigan DL", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811558", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811558" } ], "reference": [ { "type": "PubMed", "id": "1325671", "url": "https://glygen.org/publication/PubMed/1325671" } ] }, { "title": "Two isoforms of otubain 1 regulate T cell anergy via GRAIL.", "journal": "Nature immunology", "date": "2004", "authors": "Soares L, Seroogy C, Skrenta H, Anandasabapathy N, Lovelace P, Chung CD, Engleman E, Fathman CG", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "14661020", "url": "https://glygen.org/publication/PubMed/14661020" } ] }, { "title": "A dynamic role of HAUSP in the p53-Mdm2 pathway.", "journal": "Molecular cell", "date": "2004", "authors": "Li M, Brooks CL, Kon N, Gu W", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "15053880", "url": "https://glygen.org/publication/PubMed/15053880" } ] }, { "title": "Phosphorylation and regulation of Akt/PKB by the rictor-mTOR complex.", "journal": "Science (New York, N.Y.)", "date": "2005", "authors": "Sarbassov DD, Guertin DA, Ali SM, Sabatini 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"authors": "Stevenson LF, Sparks A, Allende-Vega N, Xirodimas DP, Lane DP, Saville MK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "17290220", "url": "https://glygen.org/publication/PubMed/17290220" } ] }, { "title": "Anaphase initiation is regulated by antagonistic ubiquitination and deubiquitination activities.", "journal": "Nature", "date": "2007", "authors": "Stegmeier F, Rape M, Draviam VM, Nalepa G, Sowa ME, Ang XL, McDonald ER 3rd, Li MZ, Hannon GJ, Sorger PK, Kirschner MW, Harper JW, Elledge SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "17443180", "url": "https://glygen.org/publication/PubMed/17443180" } ] }, { "title": "IL-33 is a chemoattractant for human Th2 cells.", "journal": "European journal of immunology", 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migration", "id": "GO:0002686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002686", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" } ], "pmid": "" }, { "name": "negative regulation of type II interferon production", "id": "GO:0032689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032689", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" } ], "pmid": "" }, { "name": "positive regulation of chemokine production", "id": "GO:0032722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032722", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" } ], "pmid": "" }, { "name": "positive regulation of interleukin-6 production", "id": "GO:0032755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032755", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" } ], "pmid": "" }, { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" } ], "pmid": "" }, { "name": "positive regulation of tumor necrosis factor production", "id": "GO:0032760", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032760", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway", "id": "GO:0097191", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097191", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" } ], "pmid": "" }, { "name": "positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032436", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" } ], "pmid": "" }, { "name": "microglial cell activation involved in immune response", "id": "GO:0002282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002282", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" } ], "pmid": "" }, { "name": "type 2 immune response", "id": "GO:0042092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042092", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" } ], "pmid": "" }, { "name": "macrophage differentiation", "id": "GO:0030225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030225", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" } ], "pmid": "" }, { "name": "positive regulation of MHC class I biosynthetic process", "id": "GO:0045345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045345", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" } ], "pmid": "" }, { "name": "positive regulation of MHC class II biosynthetic process", "id": "GO:0045348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045348", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" } ], "pmid": "" }, { "name": "interleukin-33-mediated signaling pathway", "id": "GO:0038172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038172", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" } ], "pmid": "" }, { "name": "positive regulation of interleukin-4 production", "id": "GO:0032753", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032753", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" } ], "pmid": "" }, { "name": "positive regulation of nitric-oxide synthase biosynthetic process", "id": "GO:0051770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051770", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" } ], "pmid": "" }, { "name": "positive regulation of cellular defense response", "id": "GO:0010186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010186", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" } ], "pmid": "" }, { "name": "negative regulation of macrophage proliferation", "id": "GO:0120042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120042", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" } ], "pmid": "" }, { "name": "positive regulation of CD86 production", "id": "GO:0150142", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150142", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" } ], "pmid": "" }, { "name": "positive regulation of CD80 production", "id": "GO:0150145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150145", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" } ], "pmid": "" }, { "name": "microglial cell proliferation", "id": "GO:0061518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061518", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" } ], "pmid": "" }, { "name": "protein import into nucleus", "id": "GO:0006606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006606", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" } ], "pmid": "" }, { "name": "positive regulation of immunoglobulin production", "id": "GO:0002639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002639", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" } ], "pmid": "" }, { "name": "positive regulation of type 2 immune response", "id": "GO:0002830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002830", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" } ], "pmid": "" }, { "name": "negative regulation of immunoglobulin production", "id": "GO:0002638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002638", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" } ], "pmid": "" }, { "name": "negative regulation of T-helper 1 type immune response", "id": "GO:0002826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002826", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" } ], "pmid": "" }, { "name": "positive regulation of neuroinflammatory response", "id": "GO:0150078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150078", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response to wounding", "id": "GO:0106015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106015", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 8, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" } ], "pmid": "" }, { "name": "intracellular membrane-bounded organelle", "id": "GO:0043231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043231", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" } ], "pmid": "" }, { "name": "transport vesicle", "id": "GO:0030133", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030133", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" } ], "pmid": "" }, { "name": "interleukin-33 receptor binding", "id": "GO:0002112", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002112", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 171, "end_pos": 173, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "The full-length protein can be released from cells and is able to signal via the IL1RL1/ST2 receptor. However, proteolytic processing by CELA1, CSTG/cathepsin G and ELANE/neutrophil elastase produces C-terminal peptides that are more active than the unprocessed full length protein (PubMed:22307629, PubMed:35794369). May also be proteolytically processed by calpains (PubMed:22307629, PubMed:19596270). Proteolytic cleavage mediated by apoptotic caspases including CASP3 and CASP7 results in IL33 inactivation (PubMed:19559631). In vitro proteolytic cleavage by CASP1 was reported (PubMed:16286016, PubMed:19439663) but could not be confirmed in vivo (PubMed:19465481) suggesting that IL33 is probably not a direct substrate for that caspase (PubMed:19439663, PubMed:19465481).", "evidence": [ { "database": "UniProtKB", "id": "O95760", "url": "https://www.uniprot.org/uniprot/O95760" }, { "database": "PubMed", "id": "22307629", "url": "https://glygen.org/publication/PubMed/22307629" }, { "database": "PubMed", "id": "19596270", "url": "https://glygen.org/publication/PubMed/19596270" }, { "database": "PubMed", "id": "19439663", "url": "https://glygen.org/publication/PubMed/19439663" }, { "database": "PubMed", "id": "16286016", "url": "https://glygen.org/publication/PubMed/16286016" }, { "database": "PubMed", "id": "19559631", "url": "https://glygen.org/publication/PubMed/19559631" }, { "database": "PubMed", "id": "19465481", "url": "https://glygen.org/publication/PubMed/19465481" }, { "database": "PubMed", "id": "35794369", "url": "https://glygen.org/publication/PubMed/35794369" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 171, "end_pos": 173 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 103 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }