{ "uniprot_canonical_ac": "P01374-1", "uniprot_ac": "P01374", "uniprot_id": "TNFB_HUMAN", "mass": { "chemical_mass": 22297.0, "monoisotopic_mass": 22297.0 }, "refseq": { "ac": "NP_000586", "name": "lymphotoxin-alpha precursor", "summary": "The encoded protein, a member of the tumor necrosis factor family, is a cytokine produced by lymphocytes. The protein is highly inducible, secreted, and forms heterotrimers with lymphotoxin-beta which anchor lymphotoxin-alpha to the cell surface. This protein also mediates a large variety of inflammatory, immunostimulatory, and antiviral responses, is involved in the formation of secondary lymphoid organs during development and plays a role in apoptosis. Genetic variations in this gene are associated with susceptibility to leprosy type 4, myocardial infarction, non-Hodgkin's lymphoma, and psoriatic arthritis. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000586" }, "gene_names": [ { "name": "LTA", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P01374", "id": "P01374" }, { "name": "LT; TNFB; TNFSF1; TNLG1E", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000586", "id": "NP_000586" }, { "name": "LTA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000586", "id": "NP_000586" }, { "name": "TNFB", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P01374", "id": "P01374" }, { "name": "TNFSF1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P01374", "id": "P01374" } ], "protein_names": [ { "name": "Lymphotoxin-alpha", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P01374" }, { "name": "LT-alpha", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01374" }, { "name": "TNF-beta", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01374" }, { "name": "Tumor necrosis factor ligand superfamily member 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01374" }, { "name": "lymphotoxin-alpha precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000586", "id": "NP_000586" }, { "name": "tumor necrosis factor beta; LT-alpha; TNF-beta; TNF superfamily, member 1; tumor necrosis factor ligand superfamily member 1; tumor necrosis factor ligand 1E", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000586", "id": "NP_000586" } ], "function": [ { "annotation": "Association of LTA and SOD Gene Polymorphisms with Cerebral White Matter Hyperintensities in Migraine Patients. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000586", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000586" }, { "database": "PubMed", "id": "36430258", "url": "https://glygen.org/publication/PubMed/36430258" } ] }, { "annotation": "Combined tumor necrosis factor-alpha (-308 G/A) and tumor necrosis factor-beta (+ 252 A/G) nucleotide polymorphisms and chronicity in Egyptian children with immune thrombocytopenia.", "evidence": [ { "database": "RefSeq", "id": "NP_000586", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000586" }, { "database": "PubMed", "id": "36802017", "url": "https://glygen.org/publication/PubMed/36802017" } ] }, { "annotation": "Cytokine that in its homotrimeric form binds to TNFRSF1A/TNFR1, TNFRSF1B/TNFBR and TNFRSF14/HVEM (PubMed:9462508). In its heterotrimeric form with LTB binds to TNFRSF3/LTBR. Lymphotoxin is produced by lymphocytes and is cytotoxic for a wide range of tumor cells in vitro and in vivo.", "evidence": [ { "database": "UniProtKB", "id": "P01374", "url": "https://www.uniprot.org/uniprot/P01374#function" }, { "database": "PubMed", "id": "9462508", "url": "https://glygen.org/publication/PubMed/9462508" } ] }, { "annotation": "Cytokine that in its homotrimeric form binds to TNFRSF1A/TNFR1, TNFRSF1B/TNFBR and TNFRSF14/HVEM. In its heterotrimeric form with LTB binds to TNFRSF3/LTBR. Lymphotoxin is produced by lymphocytes and is cytotoxic for a wide range of tumor cells in vitro and in vivo.", "evidence": [ { "database": "UniProtKB", "id": "Q6FG55", "url": "https://www.uniprot.org/uniprot/Q6FG55#function" }, { "database": "UniProtKB", "id": "RU368120", "url": "https://www.uniprot.org/uniprot/RU368120#function" }, { "database": "UniProtKB", "id": "Q5ST95", "url": "https://www.uniprot.org/uniprot/Q5ST95#function" } ] }, { "annotation": "LTA is a major gene associated with early-onset leprosy.", "evidence": [ { "database": "RefSeq", "id": "NP_000586", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000586" }, { "database": "PubMed", "id": "17353895", "url": "https://glygen.org/publication/PubMed/17353895" } ] }, { "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_000586", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000586" }, { "database": "PubMed", "id": "16293872", "url": "https://glygen.org/publication/PubMed/16293872" } ] }, { "annotation": "Prognostic significance of the genetic variant of lymphotoxin alpha (p.Thr60Asn) in egyptian patients with advanced hepatocellular carcinoma.", "evidence": [ { "database": "RefSeq", "id": "NP_000586", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000586" }, { "database": "PubMed", "id": "36929286", "url": "https://glygen.org/publication/PubMed/36929286" } ] }, { "annotation": "Single-nucleotide polymorphisms in the lymphotoxin-alpha gene are associated with susceptibility to myocardial infarction. GeneRIF: Observational study of gene-disease association. (HuGE Navigator) Erratum:[Nat Genet. 2003 Jan;33(1):107.]", "evidence": [ { "database": "RefSeq", "id": "NP_000586", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000586" }, { "database": "PubMed", "id": "12426569", "url": "https://glygen.org/publication/PubMed/12426569" } ] }, { "annotation": "The encoded protein, a member of the tumor necrosis factor family, is a cytokine produced by lymphocytes. The protein is highly inducible, secreted, and forms heterotrimers with lymphotoxin-beta which anchor lymphotoxin-alpha to the cell surface. This protein also mediates a large variety of inflammatory, immunostimulatory, and antiviral responses, is involved in the formation of secondary lymphoid organs during development and plays a role in apoptosis. Genetic variations in this gene are associated with susceptibility to leprosy type 4, myocardial infarction, non-Hodgkin's lymphoma, and psoriatic arthritis. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012].", "evidence": [ { "database": "RefSeq", "id": "NP_000586", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000586" } ] } ], "disease": [ { "disease_id": "DOID:9008", "recommended_name": { "id": "DOID:9008", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9008", "name": "psoriatic arthritis", "description": "An arthritis that is characterized by joint inflammation that usually occurs in combination with psoriasis." }, "synonyms": [ { "id": "DOID:9008", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9008", "name": "arthritis psoriatica", "description": "" }, { "id": "DOID:9008", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9008", "name": "arthropathic psoriasis", "description": "" }, { "id": "MONDO:0011849", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011849", "name": "psoriatic arthritis", "description": "Joint inflammation associated with psoriasis." }, { "id": "MONDO:0011849", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011849", "name": "arthritis psoriatica", "description": "" }, { "id": "MONDO:0011849", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011849", "name": "arthropathic psoriasis", "description": "" }, { "id": "MONDO:0011849", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011849", "name": "psoriatic arthritis, susceptibility to", "description": "" }, { "id": "MONDO:0011849", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011849", "name": "psoriatic arthritis, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011849", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011849", "name": "psoriatic arthropathy", "description": "" }, { "id": "MONDO:0011849", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011849", "name": "susceptibility to psoriatic arthritis", "description": "" }, { "id": "MONDO:0100232", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100232", "name": "psoriatic arthritis, susceptibility to", "description": "An inherited susceptibility or predisposition to developing psoriatic arthritis." }, { "id": "MONDO:0100232", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100232", "name": "psoriatic arthritis, susceptibility", "description": "" }, { "id": "MONDO:0100232", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100232", "name": "psoriatic arthritis, susceptibility to", "description": "" }, { "id": "MIM:607507", "resource": "MIM", "url": "https://www.omim.org/entry/607507", "name": "Psoriatic arthritis", "description": "Psoriatic arthritis" }, { "id": "MIM:607507", "resource": "MIM", "url": "https://www.omim.org/entry/607507", "name": "Psoriatic arthritis", "description": "Psoriatic arthritis" } ], "evidence": [ { "id": "607507", "database": "MIM", "url": "https://www.omim.org/entry/607507" } ] }, { "disease_id": "MONDO:0012595", "recommended_name": { "id": "MONDO:0012595", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012595", "name": "leprosy, susceptibility to, 4", "description": "Any leprosy in which the cause of the disease is a mutation in the LTA gene." }, "synonyms": [ { "id": "MONDO:0012595", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012595", "name": "LTA leprosy", "description": "" }, { "id": "MONDO:0012595", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012595", "name": "leprosy caused by mutation in LTA", "description": "" }, { "id": "MONDO:0012595", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012595", "name": "leprosy, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012595", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012595", "name": "leprosy, susceptibility to, type 4", "description": "" }, { "id": "MONDO:0012595", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012595", "name": "LPRS4", "description": "" }, { "id": "MONDO:0012595", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012595", "name": "leprosy, early-onset, susceptibility to", "description": "" }, { "id": "MONDO:0012595", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012595", "name": "susceptibility to leprosy 4", "description": "" } ], "evidence": [ { "id": "610988", "database": "MIM", "url": "https://www.omim.org/entry/610988" } ] } ], "snv": [ { "evidence": [ { "id": "rs761637564", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761637564" }, { "id": "rs761637564", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761637564" }, { "id": "rs761637564", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761637564#frequency_tab" }, { "id": "rs761637564", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761637564" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 41, "end_pos": 41, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "6", "chr_pos": "31572950", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T41", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P01374", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01374" } ], "glycoeffect": [], "start_pos": 84, "end_pos": 84, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "31573325", 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"url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] }, { "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": 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"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, somatic", "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 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", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "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": "P01374", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01374" } ], "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", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "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": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P01374", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01374" } ], "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 results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"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 bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P01374", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01374" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": 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This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P01374", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01374" } ], "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 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"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": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P01374", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01374" } ], "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": "P01374", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01374" } ], "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": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P01374", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01374" } ], "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": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P01374", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01374" } ], "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": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01374" } ], "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": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P01374", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01374" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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"https://proconsortium.org/app/entry/PR:000051770", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000051771", "url": "https://proconsortium.org/app/entry/PR:000051771", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000051772", "url": "https://proconsortium.org/app/entry/PR:000051772", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000051773", "url": "https://proconsortium.org/app/entry/PR:000051773", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_P01374", "url": "http://purl.obolibrary.org/obo/PR_P01374", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-5668541", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5668541", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5676594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5676594", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000586", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000586", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P01374", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "P01374", "url": "https://www.uniprot.org/uniprot/P01374", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P01374-1", "url": "https://www.uniprot.org/uniprot/P01374-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5ST95", "url": "https://www.uniprot.org/uniprot/Q5ST95", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5ST95-1", "url": "https://www.uniprot.org/uniprot/Q5ST95-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q6FG55", "url": "https://www.uniprot.org/uniprot/Q6FG55", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q6FG55-1", "url": "https://www.uniprot.org/uniprot/Q6FG55-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MTPPERLFLPRVCGTTLHLLLLGLLLVLLPGAQGLPGVGLTPSAAQTARQHPKMHLAHSTLKPAAHLIGDPSKQNSLLWRANTDRAFLQDGFSLSNNSLLVPTSGIYFVYSQVVFSGKAYSPKATSSPLYLAHEVQLFSSQYPFHVPLLSSQKMVYPGLQEPWLHSMYHGAAFQLTQGDQLSTHTDGIPHLVLSPSTVFFGAFAL", "length": 205, "header": "sp|P01374-1|TNFB_HUMAN Isoform 1 of Lymphotoxin-alpha OS=Homo sapiens OX=9606 GN=LTA PE=1 SV=2 CANONICAL=P01374-1" }, "isoforms": [ { "isoform_ac": "P01374-1", "url": "", "sequence": { "sequence": "MTPPERLFLPRVCGTTLHLLLLGLLLVLLPGAQGLPGVGLTPSAAQTARQHPKMHLAHSTLKPAAHLIGDPSKQNSLLWRANTDRAFLQDGFSLSNNSLLVPTSGIYFVYSQVVFSGKAYSPKATSSPLYLAHEVQLFSSQYPFHVPLLSSQKMVYPGLQEPWLHSMYHGAAFQLTQGDQLSTHTDGIPHLVLSPSTVFFGAFAL", "length": 205, "header": "sp|P01374-1|TNFB_HUMAN Isoform 1 of Lymphotoxin-alpha OS=Homo sapiens OX=9606 GN=LTA PE=1 SV=2 CANONICAL=P01374-1" }, "locus": { "chromosome": "HSCHR6_MHC_SSTO_CTG1", "start_pos": 2872970, "end_pos": 2872023, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000412851.6", "url": "https://www.ensembl.org/id/ENST00000412851.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000412555.2", "url": "https://www.ensembl.org/id/ENSP00000412555.2" } ] } }, { "isoform_ac": "Q5ST95-1", "url": "", "sequence": { "sequence": "MTPPERLFLPRVCGTTLHLLLLGLLLVLLPGAQGLPGVGLTPSAAQTARQHPKMHLAHSNLKPAAHLIGDPSKQNSLLWRANTDRAFLQDGFSLSNNSLLVPTSGIYFVYSQVVFSGKAYSPKATSSPLYLAHEVQLFSSQYPFHVPLLSSQKMVYPGLQEPWLHSMYHGAAFQLTQGDQLSTHTDGIPHLVLSPSTVFFGAFAL", "length": 205, "header": "tr|Q5ST95-1|TNFB_HUMAN Computationally mapped isoform of Lymphotoxin-alpha OS=Homo sapiens OX=9606 GN=LTA PE=1 SV=1 CANONICAL=P01374-1" }, "locus": { "chromosome": "HSCHR6_MHC_COX_CTG1", "start_pos": 3050977, "end_pos": 3050030, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000383303.6", "url": "https://www.ensembl.org/id/ENST00000383303.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000372791.2", "url": "https://www.ensembl.org/id/ENSP00000372791.2" } ] } }, { "isoform_ac": "Q6FG55-1", "url": "", "sequence": { "sequence": "MTPPERLFLPRVRGTTLHLLLLGLLLVLLPGAQGLPGVGLTPSAAQTARQHPKMHLAHSTLKPAAHLIGDPSKQNSLLWRANTDRAFLQDGFSLSNNSLLVPTSGIYFVYSQVVFSGKAYSPKATSSPLYLAHEVQLFSSQYPFHVPLLSSQKMVYPGLQEPWLHSMYHGAAFQLTQGDQLSTHTDGIPHLVLSPSTVFFGAFAL", "length": 205, "header": "tr|Q6FG55-1|TNFB_HUMAN Computationally mapped isoform of Lymphotoxin-alpha OS=Homo sapiens OX=9606 GN=LTA PE=1 SV=1 CANONICAL=P01374-1" }, "locus": { "chromosome": "HSCHR6_MHC_MCF_CTG1", "start_pos": 2915588, "end_pos": 2914641, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000448630.2", "url": "https://www.ensembl.org/id/ENST00000448630.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000407133.2", "url": "https://www.ensembl.org/id/ENSP00000407133.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "site_category": "reported", "site_seq": "T", "relation": "attached", "comment": "O-linked (GalNAc...) threonine; partial O-GalNAcylation", "start_pos": 41, "start_aa": "Thr", "end_pos": 41, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr41", "evidence": [ { "id": "P01374", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P01374#ptm_processing" }, { "id": "1451807", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1451807" } ] }, { "glytoucan_ac": "G23863VK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 96, "start_aa": "Asn", "end_pos": 96, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn96", "evidence": [ { "id": "354", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/354" }, { "id": "8323280", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/8323280" } ] }, { "glytoucan_ac": "G29228MX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. 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Reported structure can be attached to the following: ASN-96", "start_pos": 96, "start_aa": "Asn", "end_pos": 96, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn96", "evidence": [ { "id": "P01374", "database": "UniCarbKB", "url": "" }, { "id": "8323280", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/8323280" }, { "id": "354", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/354" } ] }, { "glytoucan_ac": "G52038JM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: ASN-96", "start_pos": 96, "start_aa": "Asn", "end_pos": 96, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn96", "evidence": [ { "id": "P01374", "database": "UniCarbKB", "url": "" }, { "id": "8323280", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/8323280" }, { "id": "354", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/354" } ] }, { "glytoucan_ac": "G63889NK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: ASN-96", "start_pos": 96, "start_aa": "Asn", "end_pos": 96, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn96", "evidence": [ { "id": "P01374", "database": "UniCarbKB", "url": "" }, { "id": "8323280", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/8323280" }, { "id": "354", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/354" } ] }, { "glytoucan_ac": "G72797UR", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 96, "start_aa": "Asn", "end_pos": 96, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn96", "evidence": [ { "id": "354", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/354" }, { "id": "8323280", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/8323280" } ] }, { "glytoucan_ac": "G78059CC", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "ASN-96 ; ASN-96", "start_pos": 96, "start_aa": "Asn", "end_pos": 96, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn96", "evidence": [ { "id": "P01374", "database": "UniCarbKB", "url": "" }, { "id": "8323280", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/8323280" }, { "id": "354", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/354" } ] }, { "glytoucan_ac": "G86357DX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: ASN-96", "start_pos": 96, "start_aa": "Asn", "end_pos": 96, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn96", "evidence": [ { "id": "P01374", "database": "UniCarbKB", "url": "" }, { "id": "8323280", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/8323280" }, { "id": "354", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/354" } ] }, { "glytoucan_ac": "G90093AU", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 96, "start_aa": "Asn", "end_pos": 96, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn96", "evidence": [ { "id": "354", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/354" }, { "id": "8323280", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/8323280" } ] }, { "glytoucan_ac": "G91636VS", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 96, "start_aa": "Asn", "end_pos": 96, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn96", "evidence": [ { "id": "354", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/354" }, { "id": "8323280", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/8323280" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 96, "start_aa": "Asn", "end_pos": 96, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn96", "evidence": [ { "id": "P01374", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P01374#ptm_processing" }, { "id": "1451807", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1451807" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_reported" ], "publication": [ { "title": "Identification of a new member of the tumor necrosis factor family and its receptor, a human ortholog of mouse GITR.", "journal": "Current biology : CB", "date": "1999", "authors": "Gurney AL, Marsters SA, Huang RM, Pitti RM, Mark DT, Baldwin DT, Gray AM, Dowd AD, Brush AD, Heldens AD, Schow AD, Goddard AD, Wood WI, Baker KP, Godowski PJ, Ashkenazi A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "10074428", "url": "https://glygen.org/publication/PubMed/10074428" } ] }, { "title": "TWEAK induces angiogenesis and proliferation of endothelial cells.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Lynch CN, Wang YC, Lund JK, Chen YW, Leal JA, Wiley SR", "evidence": [ { "database": "Reactome", "id": "R-HSA-5676594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5676594" } ], "reference": [ { "type": "PubMed", "id": "10085077", "url": "https://glygen.org/publication/PubMed/10085077" } ] }, { "title": "A new member of the Ig superfamily and a V-ATPase G subunit are among the predicted products of novel genes close to the TNF locus in the human MHC.", "journal": "J. Immunol.", "date": "1999", "authors": "Neville MJ, Campbell RD", "evidence": [ { "database": "UniProtKB", "id": "P01374", "url": "https://www.uniprot.org/uniprot/P01374" } ], "reference": [ { "type": "PubMed", "id": "10202016", "url": "https://glygen.org/publication/PubMed/10202016" } ] }, { "title": "BAFF, a novel ligand of the tumor necrosis factor family, stimulates B cell growth.", "journal": "The Journal of experimental medicine", "date": "1999", "authors": "Schneider P, MacKay F, Steiner V, Hofmann K, Bodmer JL, Holler N, Ambrose C, Lawton P, Bixler S, Acha-Orbea H, Valmori D, Romero P, Werner-Favre C, Zubler RH, Browning JL, Tschopp J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5676594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5676594" } ], "reference": [ { "type": "PubMed", "id": "10359578", "url": "https://glygen.org/publication/PubMed/10359578" } ] }, { "title": "BLyS: member of the tumor necrosis factor family and B lymphocyte stimulator.", "journal": "Science (New York, N.Y.)", "date": "1999", "authors": "Moore PA, Belvedere O, Orr A, Pieri K, LaFleur DW, Feng P, Soppet D, Charters M, Gentz R, Parmelee D, Li Y, Galperina O, Giri J, Roschke V, Nardelli B, Carrell J, Sosnovtseva S, Greenfield W, Ruben SM, Olsen HS, Fikes J, Hilbert DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "10398604", "url": "https://glygen.org/publication/PubMed/10398604" } ] }, { "title": "Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells.", "journal": "Human molecular genetics", "date": "1999", "authors": "Ezer S, Bayes M, Elomaa O, Schlessinger D, Kere J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "10484778", "url": "https://glygen.org/publication/PubMed/10484778" } ] }, { "title": "VEGI, a new member of the TNF family activates nuclear factor-kappa B and c-Jun N-terminal kinase and modulates cell growth.", "journal": "Oncogene", "date": "1999", "authors": "Haridas V, Shrivastava A, Su J, Yu GL, Ni J, Liu D, Chen SF, Ni Y, Ruben SM, Gentz R, Aggarwal BB", "evidence": [ { "database": "Reactome", "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "10597252", "url": "https://glygen.org/publication/PubMed/10597252" } ] }, { "title": "Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis.", "journal": "Nature genetics", "date": "2000", "authors": "Hughes AE, Ralston SH, Marken J, Bell C, MacPherson H, Wallace RG, van Hul W, Whyte MP, Nakatsuka K, Hovy L, Anderson DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "10615125", "url": "https://glygen.org/publication/PubMed/10615125" } ] }, { "title": "Ubiquitin protein ligase activity of IAPs and their degradation in proteasomes in response to apoptotic stimuli.", "journal": "Science (New York, N.Y.)", "date": "2000", "authors": "Yang Y, Fang S, Jensen JP, Weissman AM, Ashwell JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-5668541", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5668541" } ], "reference": [ { "type": "PubMed", "id": "10797013", "url": "https://glygen.org/publication/PubMed/10797013" } ] }, { "title": "Biologically active APRIL is secreted following intracellular processing in the Golgi apparatus by furin convertase.", "journal": "EMBO reports", "date": "2001", "authors": "Lopez-Fraga M, Fernandez R, Albar JP, Hahne M", 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"R-HSA-5676594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5676594" } ], "reference": [ { "type": "PubMed", "id": "11853672", "url": "https://glygen.org/publication/PubMed/11853672" } ] }, { "title": "Identification of a novel death domain-containing adaptor molecule for ectodysplasin-A receptor that is mutated in crinkled mice.", "journal": "Current biology : CB", "date": "2002", "authors": "Yan M, Zhang Z, Brady JR, Schilbach S, Fairbrother WJ, Dixit VM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "11882293", "url": "https://glygen.org/publication/PubMed/11882293" } ] }, { "title": "TL1A is a TNF-like ligand for DR3 and TR6/DcR3 and functions as a T cell costimulator.", "journal": "Immunity", "date": "2002", "authors": "Migone TS, Zhang J, Luo X, Zhuang L, Chen C, Hu B, Hong JS, Perry JW, Chen SF, Zhou JX, Cho YH, Ullrich S, Kanakaraj P, 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Distinct domains for nuclear factor-kappaB activation and association with tumor necrosis factor signaling proteins.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Takeuchi M, Rothe M, Goeddel DV", "evidence": [ { "database": "Reactome", "id": "R-HSA-5668541", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5668541" } ], "reference": [ { "type": "PubMed", "id": "8702708", "url": "https://glygen.org/publication/PubMed/8702708" } ] }, { "title": "Reverse signaling via CD30 ligand.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1996", "authors": "Wiley SR, Goodwin RG, Smith CA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "8871664", "url": "https://glygen.org/publication/PubMed/8871664" } ] }, { "title": "Lymphotoxin-beta receptor signaling complex: role of tumor necrosis factor receptor-associated factor 3 recruitment in cell death and activation of nuclear factor kappaB.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1997", "authors": "VanArsdale TL, VanArsdale SL, Force WR, Walter BN, Mosialos G, Kieff E, Reed JC, Ware CF", "evidence": [ { "database": "Reactome", "id": "R-HSA-5676594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5676594" } ], "reference": [ { "type": "PubMed", "id": "9122217", "url": "https://glygen.org/publication/PubMed/9122217" } ] }, { "title": "Crucial role of tumor necrosis factor (TNF) receptor 2 and membrane-bound TNF in experimental cerebral malaria.", "journal": "European journal of immunology", "date": "1997", "authors": "Lucas R, Juillard P, Decoster E, Redard M, Burger D, Donati Y, Giroud C, Monso-Hinard C, De Kesel T, Buurman WA, Moore MW, Dayer JM, Fiers W, Bluethmann H, Grau GE", "evidence": [ { "database": "Reactome", "id": "R-HSA-5668541", "url": 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CF", "evidence": [ { "database": "UniProtKB", "id": "P01374", "url": "https://www.uniprot.org/uniprot/P01374" } ], "reference": [ { "type": "PubMed", "id": "9462508", "url": "https://glygen.org/publication/PubMed/9462508" } ] }, { "title": "CD40-tumor necrosis factor receptor-associated factor (TRAF) interactions: regulation of CD40 signaling through multiple TRAF binding sites and TRAF hetero-oligomerization.", "journal": "Biochemistry", "date": "1998", "authors": "Pullen SS, Miller HG, Everdeen DS, Dang TT, Crute JJ, Kehry MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-5676594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5676594" } ], "reference": [ { "type": "PubMed", "id": "9718306", "url": "https://glygen.org/publication/PubMed/9718306" } ] }, { "title": "The involvement of multiple tumor necrosis factor receptor (TNFR)-associated factors in the signaling mechanisms of receptor activator of NF-kappaB, a member of the TNFR superfamily.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Galibert L, Tometsko ME, Anderson DM, Cosman D, Dougall WC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5676594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5676594" } ], "reference": [ { "type": "PubMed", "id": "9852070", "url": "https://glygen.org/publication/PubMed/9852070" } ] }, { "title": "RANK is the essential signaling receptor for osteoclast differentiation factor in osteoclastogenesis.", "journal": "Biochemical and biophysical research communications", "date": "1998", "authors": "Nakagawa N, Kinosaki M, Yamaguchi K, Shima N, Yasuda H, Yano K, Morinaga T, Higashio K", "evidence": [ { "database": "Reactome", "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "9878548", "url": "https://glygen.org/publication/PubMed/9878548" } ] } ], "pathway": [ { "id": "hsa:4049", "name": "", "url": 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