{ "uniprot_canonical_ac": "P10599-1", "uniprot_ac": "P10599", "uniprot_id": "THIO_HUMAN", "mass": { "chemical_mass": 11737.0, "monoisotopic_mass": 11737.0 }, "refseq": { "ac": "NP_001231867", "name": "thioredoxin isoform 2", "summary": "The protein encoded by this gene acts as a homodimer and is involved in many redox reactions. The encoded protein is active in the reversible S-nitrosylation of cysteines in certain proteins, which is part of the response to intracellular nitric oxide. This protein is found in the cytoplasm. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231867" }, "gene_names": [ { "name": "TXN", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P10599", "id": "P10599" }, { "name": "TRDX; TRX; TRX1; Trx80; TXN1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231867", "id": "NP_001231867" }, { "name": "TRDX", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P10599", "id": "P10599" }, { "name": "TRX1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P10599", "id": "P10599" }, { "name": "TRX", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P10599", "id": "P10599" }, { "name": "TXN", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231867", "id": "NP_001231867" } ], "protein_names": [ { "name": "Thioredoxin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P10599" }, { "name": "ADF; SASP; ATL-derived factor; surface-associated sulphydryl protein; TXN delta 3; thioredoxin delta 3; testicular tissue protein Li 199", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231867", "id": "NP_001231867" }, { "name": "ADF", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10599" }, { "name": "ATL-derived factor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10599" }, { "name": "SASP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10599" }, { "name": "Surface-associated sulphydryl protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10599" }, { "name": "Trx", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10599" }, { "name": "thioredoxin isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231867", "id": "NP_001231867" } ], "function": [ { "annotation": "ADF augments the expression of the interleukin-2 receptor TAC (IL2R/P55).", "evidence": [ { "database": "UniProtKB", "id": "P10599", "url": "https://www.uniprot.org/uniprot/P10599#function" } ] }, { "annotation": "Nuclear Translocation of LDHA Promotes the Catabolism of BCAAs to Sustain GBM Cell Proliferation through the TxN Antioxidant Pathway. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001231867", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231867" }, { "database": "PubMed", "id": "37298317", "url": "https://glygen.org/publication/PubMed/37298317" } ] }, { "annotation": "Participates in various redox reactions through the reversible oxidation of its active center dithiol to a disulfide and catalyzes dithiol-disulfide exchange reactions (PubMed:2176490, PubMed:17182577, PubMed:19032234). Plays a role in the reversible S-nitrosylation of cysteine residues in target proteins, and thereby contributes to the response to intracellular nitric oxide. Nitrosylates the active site Cys of CASP3 in response to nitric oxide (NO), and thereby inhibits caspase-3 activity (PubMed:16408020, PubMed:17606900). Induces the FOS/JUN AP-1 DNA-binding activity in ionizing radiation (IR) cells through its oxidation/reduction status and stimulates AP-1 transcriptional activity (PubMed:9108029, PubMed:11118054).", "evidence": [ { "database": "UniProtKB", "id": "P10599", "url": "https://www.uniprot.org/uniprot/P10599#function" }, { "database": "PubMed", "id": "11118054", "url": "https://glygen.org/publication/PubMed/11118054" }, { "database": "PubMed", "id": "16408020", "url": "https://glygen.org/publication/PubMed/16408020" }, { "database": "PubMed", "id": "9108029", "url": "https://glygen.org/publication/PubMed/9108029" }, { "database": "PubMed", "id": "17606900", "url": "https://glygen.org/publication/PubMed/17606900" }, { "database": "PubMed", "id": "2176490", "url": "https://glygen.org/publication/PubMed/2176490" }, { "database": "PubMed", "id": "19032234", "url": "https://glygen.org/publication/PubMed/19032234" }, { "database": "PubMed", "id": "17182577", "url": "https://glygen.org/publication/PubMed/17182577" } ] }, { "annotation": "Structural basis for thioredoxin-mediated suppression of NLRP1 inflammasome.", "evidence": [ { "database": "RefSeq", "id": "NP_001231867", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231867" }, { "database": "PubMed", "id": "37704723", "url": "https://glygen.org/publication/PubMed/37704723" } ] }, { "annotation": "The mRNA expression of genes encoding selected antioxidant enzymes and thioredoxin, and the concentrations of their protein products in gingival crevicular fluid and saliva during periodontitis.", "evidence": [ { "database": "RefSeq", "id": "NP_001231867", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231867" }, { "database": "PubMed", "id": "37390459", "url": "https://glygen.org/publication/PubMed/37390459" } ] }, { "annotation": "The protein encoded by this gene acts as a homodimer and is involved in many redox reactions. The encoded protein is active in the reversible S-nitrosylation of cysteines in certain proteins, which is part of the response to intracellular nitric oxide. This protein is found in the cytoplasm. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_001231867", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231867" } ] }, { "annotation": "Thioredoxin 1 overexpression attenuated diabetes-induced endoplasmic reticulum stress in Muller cells via apoptosis signal-regulating kinase 1.", "evidence": [ { "database": "RefSeq", "id": "NP_001231867", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231867" }, { "database": "PubMed", "id": "36780445", "url": "https://glygen.org/publication/PubMed/36780445" } ] }, { "annotation": "Thioredoxin facilitates hepatocellular carcinoma stemness and metastasis by increasing BACH1 stability to activate the AKT/mTOR pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_001231867", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231867" }, { "database": "PubMed", "id": "37104068", "url": "https://glygen.org/publication/PubMed/37104068" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 32, "end_pos": 32, "sequence_org": "C", "sequence_mut": "S", "comment": "Loses its reducing activity, interaction with APEX1 and transcription activation; when associated with S-35.", "evidence": [ { "database": "UniProtKB", "id": "P10599", "url": "https://www.uniprot.org/uniprot/P10599" }, { "database": "PubMed", "id": "9108029", "url": "https://glygen.org/publication/PubMed/9108029" } ] }, { "start_pos": 35, "end_pos": 35, "sequence_org": "C", "sequence_mut": "S", "comment": "Loses its reducing activity, interaction with APEX1 and transcription activation; when associated with S-32.", "evidence": [ { "database": "UniProtKB", "id": "P10599", "url": "https://www.uniprot.org/uniprot/P10599" }, { "database": "PubMed", "id": "9108029", "url": "https://glygen.org/publication/PubMed/9108029" } ] }, { "start_pos": 60, "end_pos": 60, "sequence_org": "D", "sequence_mut": "N", "comment": "Loss of pH-dependence of dimerization.", "evidence": [ { "database": "UniProtKB", "id": "P10599", "url": "https://www.uniprot.org/uniprot/P10599" } ] }, { "start_pos": 62, "end_pos": 62, "sequence_org": "C", "sequence_mut": "S", "comment": "Retains its reducing activity. Retains interaction with APEX1 and transcription activation; when associated with S-69 and S-73.", "evidence": [ { "database": "UniProtKB", "id": "P10599", "url": "https://www.uniprot.org/uniprot/P10599" }, { "database": "PubMed", "id": "9108029", "url": "https://glygen.org/publication/PubMed/9108029" } ] }, { "start_pos": 69, "end_pos": 69, "sequence_org": "C", "sequence_mut": "S", "comment": "No effect on reducing activity, interaction with APEX1 and on S-nitrosylation of C-73. Retains interaction with APEX1 and transcription activation; when associated with S-62 and S-73.", "evidence": [ { "database": "UniProtKB", "id": "P10599", "url": "https://www.uniprot.org/uniprot/P10599" }, { "database": "PubMed", "id": "9108029", "url": "https://glygen.org/publication/PubMed/9108029" }, { "database": "PubMed", "id": "17606900", "url": "https://glygen.org/publication/PubMed/17606900" } ] }, { "start_pos": 70, "end_pos": 70, "sequence_org": "E", "sequence_mut": "A", "comment": "Strongly reduced interaction with CASP3; when associated with A-72.", "evidence": [ { "database": "UniProtKB", "id": "P10599", "url": "https://www.uniprot.org/uniprot/P10599" }, { "database": "PubMed", "id": "17606900", "url": "https://glygen.org/publication/PubMed/17606900" } ] }, { "start_pos": 72, "end_pos": 72, "sequence_org": "K", "sequence_mut": "A", "comment": "Strongly reduced interaction with CASP3; when associated with A-70.", "evidence": [ { "database": "UniProtKB", "id": "P10599", "url": "https://www.uniprot.org/uniprot/P10599" }, { "database": "PubMed", "id": "17606900", "url": "https://glygen.org/publication/PubMed/17606900" } ] }, { "start_pos": 73, "end_pos": 73, "sequence_org": "C", "sequence_mut": "D", "comment": "Strongly reduced S-nitrosylation of CASP3.", "evidence": [ { "database": "UniProtKB", "id": "P10599", "url": "https://www.uniprot.org/uniprot/P10599" }, { "database": "PubMed", "id": "16408020", "url": "https://glygen.org/publication/PubMed/16408020" }, { "database": "PubMed", "id": "9108029", "url": "https://glygen.org/publication/PubMed/9108029" }, { "database": "PubMed", "id": "17606900", "url": "https://glygen.org/publication/PubMed/17606900" } ] }, { "start_pos": 73, "end_pos": 73, "sequence_org": "C", "sequence_mut": "S", "comment": "Loss of nitrosylation, and loss of S-nitrosylating activity towards CASP3. Retains interaction with APEX1 and transcription activation; when associated with S-62 and S-69.", "evidence": [ { "database": "UniProtKB", "id": "P10599", "url": "https://www.uniprot.org/uniprot/P10599" }, { "database": "PubMed", "id": "16408020", "url": "https://glygen.org/publication/PubMed/16408020" }, { "database": "PubMed", "id": "9108029", "url": "https://glygen.org/publication/PubMed/9108029" }, { "database": "PubMed", "id": "17606900", "url": "https://glygen.org/publication/PubMed/17606900" } ] }, { "start_pos": 73, "end_pos": 73, "sequence_org": "C", "sequence_mut": "S", "comment": "Retains its reducing activity.", "evidence": [ { "database": "UniProtKB", "id": "P10599", "url": "https://www.uniprot.org/uniprot/P10599" }, { "database": "PubMed", "id": "16408020", "url": "https://glygen.org/publication/PubMed/16408020" }, { "database": "PubMed", "id": "9108029", "url": "https://glygen.org/publication/PubMed/9108029" }, { "database": "PubMed", "id": "17606900", "url": "https://glygen.org/publication/PubMed/17606900" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "98.8", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136810", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136810" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "99.78", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136810", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136810" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "97.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136810", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136810" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "97.61", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136810", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136810" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "98.86", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136810", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136810" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "99.46", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136810", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136810" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "99.38", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136810", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136810" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "98.76", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136810", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136810" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "97.8", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136810", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136810" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "96.53", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136810", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136810" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "97.72", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136810", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136810" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "98.27", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136810", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136810" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "98.36", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136810", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136810" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P10599", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10599" } ], "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", 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"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 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "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 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"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, 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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": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P10599", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10599" } ], "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", 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{ "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 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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": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P10599", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10599" } ], "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", 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