{ "uniprot_canonical_ac": "P10828-1", "uniprot_ac": "P10828", "uniprot_id": "THB_HUMAN", "mass": { "chemical_mass": 52788.0, "monoisotopic_mass": 52788.0 }, "refseq": { "ac": "NP_000452", "name": "thyroid hormone receptor beta isoform a", "summary": "The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Mutations in this gene are known to be a cause of generalized thyroid hormone resistance (GTHR), a syndrome characterized by goiter and high levels of circulating thyroid hormone (T3-T4), with normal or slightly elevated thyroid stimulating hormone (TSH). Several alternatively spliced transcript variants encoding the same protein have been observed for this gene. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000452" }, "gene_names": [ { "name": "THRB", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P10828", "id": "P10828" }, { "name": "C-ERBA-2; C-ERBA-BETA; ERBA2; GRTH; NR1A2; PRTH; THR1; THRB1; THRB2; THRbeta; THRbeta1; Thrbeta2; TRb; TRbeta; TRbeta1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000452", "id": "NP_000452" }, { "name": "ERBA2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P10828", "id": "P10828" }, { "name": "NR1A2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P10828", "id": "P10828" }, { "name": "THR1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P10828", "id": "P10828" }, { "name": "THRB", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000452", "id": "NP_000452" } ], "protein_names": [ { "name": "Thyroid hormone receptor beta", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P10828" }, { "name": "Nuclear receptor subfamily 1 group A member 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10828" }, { "name": "c-erbA-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10828" }, { "name": "c-erbA-beta", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10828" }, { "name": "oncogene ERBA2; nuclear receptor subfamily 1 group A member 2; thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000452", "id": "NP_000452" }, { "name": "thyroid hormone receptor beta isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000452", "id": "NP_000452" } ], "function": [ { "annotation": "Atrial Fibrillation with Heart Failure in a Case with Resistance to Thyroid Hormone Due to a Rare Thyroid Hormone Receptor beta Gene Mutation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000452", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000452" }, { "database": "PubMed", "id": "36499571", "url": "https://glygen.org/publication/PubMed/36499571" } ] }, { "annotation": "Effect of the Fetal THRB Genotype on the Placenta.", "evidence": [ { "database": "RefSeq", "id": "NP_000452", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000452" }, { "database": "PubMed", "id": "37149816", "url": "https://glygen.org/publication/PubMed/37149816" } ] }, { "annotation": "Low THRB (thyroid hormone receptor beta) Promoter Methylation Levels in Peripheral Blood Leukocytes Induced By Systematic Inflammation Are Involved in Low Thyroid Hormone Function in Metabolic Syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_000452", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000452" }, { "database": "PubMed", "id": "34397273", "url": "https://glygen.org/publication/PubMed/34397273" } ] }, { "annotation": "Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine.", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828#function" }, { "database": "PubMed", "id": "14673100", "url": "https://glygen.org/publication/PubMed/14673100" }, { "database": "PubMed", "id": "18237438", "url": "https://glygen.org/publication/PubMed/18237438" }, { "database": "PubMed", "id": "12699376", "url": "https://glygen.org/publication/PubMed/12699376" }, { "database": "PubMed", "id": "19926848", "url": "https://glygen.org/publication/PubMed/19926848" }, { "database": "PubMed", "id": "18798561", "url": "https://glygen.org/publication/PubMed/18798561" }, { "database": "PubMed", "id": "17418816", "url": "https://glygen.org/publication/PubMed/17418816" }, { "database": "PubMed", "id": "16781732", "url": "https://glygen.org/publication/PubMed/16781732" } ] }, { "annotation": "The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Mutations in this gene are known to be a cause of generalized thyroid hormone resistance (GTHR), a syndrome characterized by goiter and high levels of circulating thyroid hormone (T3-T4), with normal or slightly elevated thyroid stimulating hormone (TSH). Several alternatively spliced transcript variants encoding the same protein have been observed for this gene. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000452", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000452" } ] }, { "annotation": "Thyroid hormone Beta receptor agonists for treatment of kidney disease: A promising agent? Review article", "evidence": [ { "database": "RefSeq", "id": "NP_000452", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000452" }, { "database": "PubMed", "id": "36537819", "url": "https://glygen.org/publication/PubMed/36537819" } ] } ], "disease": [ { "disease_id": "DOID:0111374", "recommended_name": { "id": "DOID:0111374", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111374", "name": "selective pituitary thyroid hormone resistance", "description": "A hyperthyroidism characterized by mild to moderate hyperthyroidism, impaired pituitary response to thyroid hormone, elevated levels of thyroid hormone, and association with thyrotoxic features that has_material_basis_in heterozygous mutation in the THRB gene on chromosome 3p24.2." }, "synonyms": [ { "id": "DOID:0111374", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111374", "name": "PRTH", "description": "" }, { "id": "DOID:0111374", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111374", "name": "pituitary resistance to thyroid hormone", "description": "" }, { "id": "DOID:0111374", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111374", "name": "selective pituitary resistance to thyroid hormone", "description": "" }, { "id": "DOID:0111374", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111374", "name": "familial hyperthyroidism due to inappropriate thyrotropin secretion", "description": "" }, { "id": "MONDO:0007784", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007784", "name": "selective pituitary resistance to thyroid hormone", "description": "Pituitary resistance to thyroid hormone is a rare, genetic thyroid disease, due to reduced pituitary gland responsiveness to thyroid hormone, characterized by mild to moderate hyperthyroidism in association with elevated circulating thyroid hormone levels, normal or elevated thyroid stimulating hormone, and no abnormalities of the pituitary gland on MRI. Patients present with diffuse large goiter, tachycardia, atrial fibrillation, weight loss and/or heat intolerance/perspiration, but no exophthalmos or anterior tibial mixedema." }, { "id": "MONDO:0007784", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007784", "name": "PRTH", "description": "" }, { "id": "MONDO:0007784", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007784", "name": "hyperthyroidism, familial, due to inappropriate thyrotropin secretion", "description": "" }, { "id": "MONDO:0007784", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007784", "name": "pituitary resistance to thyroid hormone", "description": "" }, { "id": "MONDO:0007784", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007784", "name": "thyroid hormone resistance, selective pituitary", "description": "" }, { "id": "MIM:145650", "resource": "MIM", "url": "https://www.omim.org/entry/145650", "name": "Selective pituitary thyroid hormone resistance", "description": "Selective pituitary thyroid hormone resistance" } ], "evidence": [ { "id": "145650", "database": "MIM", "url": "https://www.omim.org/entry/145650" } ] }, { "disease_id": "DOID:11633", "recommended_name": { "id": "DOID:11633", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11633", "name": "thyroid hormone resistance syndrome", "description": "" }, "synonyms": [ { "id": "DOID:11633", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11633", "name": "Generalized thyroid hormone resistance", "description": "" }, { "id": "DOID:11633", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11633", "name": "Refetoff syndrome", "description": "" }, { "id": "DOID:11633", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11633", "name": "Thyroid hormone responsiveness defect", "description": "" }, { "id": "DOID:11633", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11633", "name": "thyroid hormone resistance", "description": "" }, { "id": "MONDO:0010131", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010131", "name": "thyroid hormone resistance, generalized, autosomal recessive", "description": "A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum." }, { "id": "MONDO:0010131", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010131", "name": "thyroid hormone resistance", "description": "" }, { "id": "MONDO:0010131", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010131", "name": "thyroid hormone resistance syndrome", "description": "" }, { "id": "MONDO:0010131", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010131", "name": "thyroid hormone resistance, autosomal recessive", "description": "" }, { "id": "MONDO:0010131", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010131", "name": "thyroid hormone resistance, generalized, autosomal recessive", "description": "" }, { "id": "MONDO:0010131", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010131", "name": "GRTH", "description": "" }, { "id": "MONDO:0010131", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010131", "name": "Gthr", "description": "" }, { "id": "MONDO:0010131", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010131", "name": "Refetoff syndrome", "description": "" }, { "id": "MONDO:0010131", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010131", "name": "THRB", "description": "" }, { "id": "MONDO:0010131", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010131", "name": "thyroid hormone receptor BETA", "description": "" }, { "id": "MONDO:0010131", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010131", "name": "thyroid hormone unresponsiveness", "description": "" }, { "id": "MONDO:0008569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008569", "name": "thyroid hormone resistance, generalized, autosomal dominant", "description": "" }, { "id": "MONDO:0008569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008569", "name": "thyroid hormone resistance", "description": "" }, { "id": "MONDO:0008569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008569", "name": "thyroid hormone resistance, generalized, autosomal dominant", "description": "" }, { "id": "MONDO:0008569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008569", "name": "GRTH", "description": "" }, { "id": "MONDO:0008569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008569", "name": "Gthr", "description": "" }, { "id": "MONDO:0008569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008569", "name": "hyperthyroxinemia, familial euthyroid, secondary to pituitary and peripheral resistance to thyroid hormones", "description": "" }, { "id": "MONDO:0008569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008569", "name": "thyroid hormone unresponsiveness", "description": "" }, { "id": "MIM:274300", "resource": "MIM", "url": "https://www.omim.org/entry/274300", "name": "Thyroid hormone resistance, generalized, autosomal recessive", "description": "Thyroid hormone resistance, generalized, autosomal recessive" }, { "id": "MIM:188570", "resource": "MIM", "url": "https://www.omim.org/entry/188570", "name": "Thyroid hormone resistance, generalized, autosomal dominant", "description": "Thyroid hormone resistance, generalized, autosomal dominant" } ], "evidence": [ { "id": "188570", "database": "MIM", "url": "https://www.omim.org/entry/188570" }, { "id": "274300", "database": "MIM", "url": "https://www.omim.org/entry/274300" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 207, "end_pos": 208, "sequence_org": "SI", "sequence_mut": "AA", "comment": "Modestly inhibits homodimer formation on a minimal response element (in vitro).", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" }, { "database": "PubMed", "id": "16781732", "url": "https://glygen.org/publication/PubMed/16781732" } ] }, { "start_pos": 207, "end_pos": 208, "sequence_org": "SI", "sequence_mut": "KK", "comment": "Inhibits homodimer formation on a minimal response element (in vitro).", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" }, { "database": "PubMed", "id": "16781732", "url": "https://glygen.org/publication/PubMed/16781732" } ] }, { "start_pos": 243, "end_pos": 243, "sequence_org": "R", "sequence_mut": "Q", "comment": "Impairs hormone binding and ligand-dependent conformational changes.", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" }, { "database": "PubMed", "id": "12511610", "url": "https://glygen.org/publication/PubMed/12511610" } ] }, { "start_pos": 331, "end_pos": 331, "sequence_org": "N", "sequence_mut": "S", "comment": "No effect on thyroid hormone binding.", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" }, { "database": "PubMed", "id": "14673100", "url": "https://glygen.org/publication/PubMed/14673100" }, { "database": "PubMed", "id": "19926848", "url": "https://glygen.org/publication/PubMed/19926848" } ] }, { "start_pos": 355, "end_pos": 355, "sequence_org": "D", "sequence_mut": "R", "comment": "Stabilizes homodimer.", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" }, { "database": "PubMed", "id": "18798561", "url": "https://glygen.org/publication/PubMed/18798561" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "73.89", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000151090", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151090" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "57.98", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000151090", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151090" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "73.23", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000151090", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151090" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "55.62", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000151090", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151090" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "86.82", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151090", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151090" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "83.52", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151090", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151090" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000151090", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151090" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "83.33", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151090", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151090" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "73.77", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000151090", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151090" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000151090", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151090" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "89.01", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151090", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151090" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "75.06", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000151090", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151090" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "81.8", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151090", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151090" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P10828", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10828" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "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": "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 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": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P10828", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10828" } ], "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": "P10828", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10828" } ], "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": "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": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the 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": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P10828", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10828" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P10828", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10828" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P10828", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10828" } ], "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": "P10828", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10828" } ], "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": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P10828", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10828" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P10828", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10828" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P10828", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10828" } ], "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": "Yes", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P10828", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10828" } ], "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": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "P10828", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10828" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "common_name": "Human" } ], "gene": [ { "name": "THRB", "url": "https://www.uniprot.org/uniprot/P10828", "locus": { "chromosome": "3", "start_pos": 24117153, "end_pos": 24495756, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000151090", "url": "https://www.ensembl.org/id/ENSG00000151090" } ] } } ], "crossref": [ { "id": "ENSG00000151090", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151090", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd06935", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd06935", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd06961", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd06961", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL1947", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL1947", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "THRB", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=THRB", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "7068", "url": "https://www.ncbi.nlm.nih.gov/gene/7068", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "11799", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11799", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P10828", "url": "https://www.ebi.ac.uk/intact/interactors/id:P10828*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000536", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000536", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001628", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001628", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001723", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001723", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001728", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001728", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013088", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013088", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR035500", "url": "https://www.ebi.ac.uk/interpro/entry/IPR035500", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:7068", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:7068", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "145650", "url": "http://www.omim.org/entry/145650", "database": "MIM", "categories": [ "Other" ] }, { "id": "188570", "url": "http://www.omim.org/entry/188570", "database": "MIM", "categories": [ "Other" ] }, { "id": "190160", "url": "http://www.omim.org/entry/190160", "database": "MIM", "categories": [ "Other" ] }, { "id": "274300", "url": "http://www.omim.org/entry/274300", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P10828", "url": "https://www.nextprot.org/entry/NX_P10828", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "AASSNCY", "url": "https://omabrowser.org/oma/group/AASSNCY/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5390715at2759", "url": "http://www.orthodb.org/?query=5390715at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR24082", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24082", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24082:SF210", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24082:SF210", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1BSX", "url": "https://www.rcsb.org/structure/1BSX", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1N46", "url": "https://www.rcsb.org/structure/1N46", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1NAX", "url": "https://www.rcsb.org/structure/1NAX", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1NQ0", "url": "https://www.rcsb.org/structure/1NQ0", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1NQ1", "url": "https://www.rcsb.org/structure/1NQ1", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1NQ2", "url": "https://www.rcsb.org/structure/1NQ2", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1NUO", "url": "https://www.rcsb.org/structure/1NUO", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1Q4X", "url": "https://www.rcsb.org/structure/1Q4X", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1R6G", "url": "https://www.rcsb.org/structure/1R6G", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1XZX", "url": "https://www.rcsb.org/structure/1XZX", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1Y0X", "url": "https://www.rcsb.org/structure/1Y0X", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2J4A", "url": "https://www.rcsb.org/structure/2J4A", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2NLL", "url": "https://www.rcsb.org/structure/2NLL", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2PIN", "url": "https://www.rcsb.org/structure/2PIN", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3D57", "url": "https://www.rcsb.org/structure/3D57", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3GWS", "url": "https://www.rcsb.org/structure/3GWS", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3IMY", "url": "https://www.rcsb.org/structure/3IMY", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3JZC", "url": "https://www.rcsb.org/structure/3JZC", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4ZO1", "url": "https://www.rcsb.org/structure/4ZO1", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6KKB", "url": "https://www.rcsb.org/structure/6KKB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6KKE", "url": "https://www.rcsb.org/structure/6KKE", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6KNU", "url": "https://www.rcsb.org/structure/6KNU", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6KNV", "url": "https://www.rcsb.org/structure/6KNV", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6KNW", "url": "https://www.rcsb.org/structure/6KNW", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7WLX", "url": "https://www.rcsb.org/structure/7WLX", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7WMG", "url": "https://www.rcsb.org/structure/7WMG", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7WMH", "url": "https://www.rcsb.org/structure/7WMH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7WMJ", "url": "https://www.rcsb.org/structure/7WMJ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7WML", "url": "https://www.rcsb.org/structure/7WML", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7WMN", "url": "https://www.rcsb.org/structure/7WMN", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7WMO", "url": "https://www.rcsb.org/structure/7WMO", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00104", "url": "http://pfam.xfam.org/family/PF00104", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00105", "url": "http://pfam.xfam.org/family/PF00105", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P10828", "url": "https://pharos.nih.gov/targets/P10828", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P10828", "url": "http://purl.obolibrary.org/obo/PR_P10828", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-383280", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-383280", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000452", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000452", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A0C4DG57", "url": "https://www.uniprot.org/uniprot/A0A0C4DG57", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0C4DG57-1", "url": "https://www.uniprot.org/uniprot/A0A0C4DG57-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8YF24", "url": "https://www.uniprot.org/uniprot/A0A2R8YF24", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8YF24-1", "url": "https://www.uniprot.org/uniprot/A0A2R8YF24-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JHC2", "url": "https://www.uniprot.org/uniprot/C9JHC2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JHC2-1", "url": "https://www.uniprot.org/uniprot/C9JHC2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JJM3", "url": "https://www.uniprot.org/uniprot/C9JJM3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JJM3-1", "url": "https://www.uniprot.org/uniprot/C9JJM3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JNQ4", "url": "https://www.uniprot.org/uniprot/C9JNQ4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JNQ4-1", "url": "https://www.uniprot.org/uniprot/C9JNQ4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JTN1", "url": "https://www.uniprot.org/uniprot/C9JTN1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JTN1-1", "url": "https://www.uniprot.org/uniprot/C9JTN1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JZS5", "url": "https://www.uniprot.org/uniprot/C9JZS5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JZS5-1", "url": "https://www.uniprot.org/uniprot/C9JZS5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KR21", "url": "https://www.uniprot.org/uniprot/J3KR21", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KR21-1", "url": "https://www.uniprot.org/uniprot/J3KR21-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P10828-1", "url": "https://www.uniprot.org/uniprot/P10828-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P10828-2", "url": "https://www.uniprot.org/uniprot/P10828-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MTPNSMTENGLTAWDKPKHCPDREHDWKLVGMSEACLHRKSHSERRSTLKNEQSSPHLIQTTWTSSIFHLDHDDVNDQSVSSAQTFQTEEKKCKGYIPSYLDKDELCVVCGDKATGYHYRCITCEGCKGFFRRTIQKNLHPSYSCKYEGKCVIDKVTRNQCQECRFKKCIYVGMATDLVLDDSKRLAKRKLIEENREKRRREELQKSIGHKPEPTDEEWELIKTVTEAHVATNAQGSHWKQKRKFLPEDIGQAPIVNAPEGGKVDLEAFSHFTKIITPAITRVVDFAKKLPMFCELPCEDQIILLKGCCMEIMSLRAAVRYDPESETLTLNGEMAVTRGQLKNGGLGVVSDAIFDLGMSLSSFNLDDTEVALLQAVLLMSSDRPGLACVERIEKYQDSFLLAFEHYINYRKHHVTHFWPKLLMKVTDLRMIGACHASRFLHMKVECPTELFPPLFLEVFED", "length": 461, "header": "sp|P10828-1|THB_HUMAN Isoform 1 of Thyroid hormone receptor beta OS=Homo sapiens OX=9606 GN=THRB PE=1 SV=2 CANONICAL=P10828-1" }, "isoforms": [ { "isoform_ac": "A0A0C4DG57-1", "url": "", "sequence": { "sequence": "MTPNSMTENGLTAWDKPKHCPDREHDWKLVGMSEACLHRKSHSERRSTLKNEQSSPHLIQTTWTSSIFHLDHDDVNDQSVSSAQTFQTEEKKCKGYIPSYLDKDELCVVCGDKATGYHYRCI", "length": 122, "header": "tr|A0A0C4DG57-1|THB_HUMAN Computationally mapped isoform of Thyroid hormone receptor beta OS=Homo sapiens OX=9606 GN=THRB PE=1 SV=1 CANONICAL=P10828-1" }, "locus": { "chromosome": "3", "start_pos": 24228959, "end_pos": 24152408, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000447875.5", "url": "https://www.ensembl.org/id/ENST00000447875.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000388467.1", "url": "https://www.ensembl.org/id/ENSP00000388467.1" } ] } }, { "isoform_ac": "A0A2R8YF24-1", "url": "", "sequence": { "sequence": "MTPNSMTENGLTAWDKPKHCPDREHDWKLVGMSEACLHRKSHSERRSTLKNEQSSPHLIQTTWTSSIFHLDHDDVNDQSVSSAQTFQTEEKKCKGYIPSYLDKDELCVVCGDKATGYHYRCITCEGCKGFFRRTIQKNLHPSYSCKYEGKCVIDKVTRNQCQECRFKKCIYVGMATDCHTFIKKWP", "length": 186, "header": "tr|A0A2R8YF24-1|THB_HUMAN Computationally mapped isoform of Thyroid hormone receptor beta OS=Homo sapiens OX=9606 GN=THRB PE=1 SV=1 CANONICAL=P10828-1" }, "locus": { "chromosome": "3", "start_pos": 24228959, "end_pos": 24144871, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000646966.1", "url": "https://www.ensembl.org/id/ENST00000646966.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000496095.1", "url": "https://www.ensembl.org/id/ENSP00000496095.1" } ] } }, { "isoform_ac": "C9JHC2-1", "url": "", "sequence": { "sequence": "MTPNSMTENGLTAWDKPKHCPDREHDWKLVGMSEACLHRKSHSERRSTLKNEQSSPHLIQTTWTSSI", "length": 67, "header": "tr|C9JHC2-1|C9JHC2_HUMAN Computationally mapped isoform of Thyroid hormone receptor beta OS=Homo sapiens OX=9606 GN=THRB PE=4 SV=1 CANONICAL=P10828-1" }, "locus": { "chromosome": "3", "start_pos": 24228959, "end_pos": 24190156, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000428492.5", "url": "https://www.ensembl.org/id/ENST00000428492.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000404233.1", "url": "https://www.ensembl.org/id/ENSP00000404233.1" } ] } }, { "isoform_ac": "C9JJM3-1", "url": "", "sequence": { "sequence": "MTPNSMTENGLTAWDKPKHCPDREHDWKLVGMSEACLHRKSHSERRSTLKNEQSSPHLIQTTWTSSIFHLDHDDVNDQSVSSAQTFQTEEKKCKGYIPSYLDKDELCVVCGDKA", "length": 114, "header": "tr|C9JJM3-1|C9JJM3_HUMAN Computationally mapped isoform of Thyroid hormone receptor beta OS=Homo sapiens OX=9606 GN=THRB PE=4 SV=1 CANONICAL=P10828-1" }, "locus": { "chromosome": "3", "start_pos": 24228959, "end_pos": 24152432, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000431815.5", "url": "https://www.ensembl.org/id/ENST00000431815.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000395362.1", "url": "https://www.ensembl.org/id/ENSP00000395362.1" } ] } }, { "isoform_ac": "C9JNQ4-1", "url": "", "sequence": { "sequence": "MSEACLHRKSHSERRSTLKNEQSSPHLIQTTWTSSIFHLDHDDVNDQSVSSAQTFQTEEKKCKGYIPSYLDKDELCVVCGDKATGYHYRCITCEGCKGFFRRTIQKNLHPSYSCKYEGKCVIDKVTRNQCQE", "length": 132, "header": "tr|C9JNQ4-1|THB_HUMAN Computationally mapped isoform of Thyroid hormone receptor beta OS=Homo sapiens OX=9606 GN=THRB PE=1 SV=1 CANONICAL=P10828-1" }, "locus": { "chromosome": "3", "start_pos": 24190263, "end_pos": 24146718, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000413780.5", "url": "https://www.ensembl.org/id/ENST00000413780.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000414100.1", "url": "https://www.ensembl.org/id/ENSP00000414100.1" } ] } }, { "isoform_ac": "C9JTN1-1", "url": "", "sequence": { "sequence": "MTPNSMTENGLTAWDKPKHCPDREHDWKLVGMSEACLHRKSHSERRSTLKNEQSSPHLIQTTWTSSIFHLDHDDVNDQSVSSAQTFQTEEKKCKGYIPSYLDK", "length": 103, "header": "tr|C9JTN1-1|THB_HUMAN Computationally mapped isoform of Thyroid hormone receptor beta OS=Homo sapiens OX=9606 GN=THRB PE=1 SV=1 CANONICAL=P10828-1" }, "locus": { "chromosome": "3", "start_pos": 24228959, "end_pos": 24152465, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000447414.5", "url": "https://www.ensembl.org/id/ENST00000447414.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000399573.1", "url": "https://www.ensembl.org/id/ENSP00000399573.1" } ] } }, { "isoform_ac": "C9JZS5-1", "url": "", "sequence": { "sequence": "MTPNSMTENGLTAWDKPKHCPDREHDWKLVGMSEACLHRKSHSERRSTLKNEQSSPHLIQTTW", "length": 63, "header": "tr|C9JZS5-1|C9JZS5_HUMAN Computationally mapped isoform of Thyroid hormone receptor beta OS=Homo sapiens OX=9606 GN=THRB PE=4 SV=1 CANONICAL=P10828-1" }, "locus": { "chromosome": "3", "start_pos": 24228959, "end_pos": 24190168, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000418247.1", "url": "https://www.ensembl.org/id/ENST00000418247.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000393932.1", "url": "https://www.ensembl.org/id/ENSP00000393932.1" } ] } }, { "isoform_ac": "J3KR21-1", "url": "", "sequence": { "sequence": "MTPNSMTENGLTAWDKPKHCPDREHDWKLVGMSEACLHRKSHSERRSTLKNEQSSPHLIQTTWTSSIFHLDHDDVNDQSVSSAQTFQTEEKKCKGYIPSYLDKDELCVVCGDKATGYHYRC", "length": 121, "header": "tr|J3KR21-1|THB_HUMAN Computationally mapped isoform of Thyroid hormone receptor beta OS=Homo sapiens OX=9606 GN=THRB PE=1 SV=1 CANONICAL=P10828-1" }, "locus": { "chromosome": "3", "start_pos": 24228959, "end_pos": 24152411, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000453729.6", "url": "https://www.ensembl.org/id/ENST00000453729.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000414910.2", "url": "https://www.ensembl.org/id/ENSP00000414910.2" } ] } }, { "isoform_ac": "P10828-1", "url": "", "sequence": { "sequence": "MTPNSMTENGLTAWDKPKHCPDREHDWKLVGMSEACLHRKSHSERRSTLKNEQSSPHLIQTTWTSSIFHLDHDDVNDQSVSSAQTFQTEEKKCKGYIPSYLDKDELCVVCGDKATGYHYRCITCEGCKGFFRRTIQKNLHPSYSCKYEGKCVIDKVTRNQCQECRFKKCIYVGMATDLVLDDSKRLAKRKLIEENREKRRREELQKSIGHKPEPTDEEWELIKTVTEAHVATNAQGSHWKQKRKFLPEDIGQAPIVNAPEGGKVDLEAFSHFTKIITPAITRVVDFAKKLPMFCELPCEDQIILLKGCCMEIMSLRAAVRYDPESETLTLNGEMAVTRGQLKNGGLGVVSDAIFDLGMSLSSFNLDDTEVALLQAVLLMSSDRPGLACVERIEKYQDSFLLAFEHYINYRKHHVTHFWPKLLMKVTDLRMIGACHASRFLHMKVECPTELFPPLFLEVFED", "length": 461, "header": "sp|P10828-1|THB_HUMAN Isoform 1 of Thyroid hormone receptor beta OS=Homo sapiens OX=9606 GN=THRB PE=1 SV=2 CANONICAL=P10828-1" }, "locus": { "chromosome": "3", "start_pos": 24228959, "end_pos": 24122887, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000642307.1", "url": "https://www.ensembl.org/id/ENST00000642307.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000494618.1", "url": "https://www.ensembl.org/id/ENSP00000494618.1" } ] } }, { "isoform_ac": "P10828-2", "url": "", "sequence": { "sequence": "MNYCMQEIYEVHPAAGSNCYMQSTDYYAYFEDSPGYSGCDAQAVPSNNIYMEQAWAVNQPYTCSYPGNMFKSKDSDLDMALNQYSQPEYFTEEKPTFSQVQSPSYSQKKGYIPSYLDKDELCVVCGDKATGYHYRCITCEGCKGFFRRTIQKNLHPSYSCKYEGKCVIDKVTRNQCQECRFKKCIYVGMATDLVLDDSKRLAKRKLIEENREKRRREELQKSIGHKPEPTDEEWELIKTVTEAHVATNAQGSHWKQKRKFLPEDIGQAPIVNAPEGGKVDLEAFSHFTKIITPAITRVVDFAKKLPMFCELPCEDQIILLKGCCMEIMSLRAAVRYDPESETLTLNGEMAVTRGQLKNGGLGVVSDAIFDLGMSLSSFNLDDTEVALLQAVLLMSSDRPGLACVERIEKYQDSFLLAFEHYINYRKHHVTHFWPKLLMKVTDLRMIGACHASRFLHMKVECPTELFPPLFLEVFED", "length": 476, "header": "sp|P10828-2|THB_HUMAN Isoform 2 of Thyroid hormone receptor beta OS=Homo sapiens OX=9606 GN=THRB PE=1 SV=2 CANONICAL=P10828-1" }, "locus": { "chromosome": "3", "start_pos": 24165354, "end_pos": 24122887, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000280696.9", "url": "https://www.ensembl.org/id/ENST00000280696.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000280696.5", "url": "https://www.ensembl.org/id/ENSP00000280696.5" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 142, "end_pos": 142, "kinase_uniprot_canonical_ac": "P27361-1", "kinase_gene_name": "MAPK3", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "P10828", "url": "http://phospho.elm.eu.org/byAccession/P10828.html" }, { "database": "iPTMnet", "id": "P10828", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10828" }, { "database": "PubMed", "id": "12809513", "url": "https://glygen.org/publication/PubMed/12809513" } ], "site_lbl": "Ser142" }, { "start_pos": 142, "end_pos": 142, "kinase_uniprot_canonical_ac": "P28482-1", "kinase_gene_name": "MAPK1", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "P10828", "url": "http://phospho.elm.eu.org/byAccession/P10828.html" }, { "database": "iPTMnet", "id": "P10828", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10828" }, { "database": "PubMed", "id": "12809513", "url": "https://glygen.org/publication/PubMed/12809513" } ], "site_lbl": "Ser142" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Ligand-dependent transcription activation by nuclear receptors requires the DRIP complex.", "journal": "Nature", "date": "1999", "authors": "Rachez C, Lemon BD, Suldan Z, Bromleigh V, Gamble M, Naar AM, Erdjument-Bromage H, Tempst P, Freedman LP", "evidence": [ { "database": "Reactome", "id": "R-HSA-383280", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-383280" } ], "reference": [ { "type": "PubMed", "id": "10235266", "url": "https://glygen.org/publication/PubMed/10235266" } ] }, { "title": "Multimeric Coactivator Complexes for Steroid/Nuclear Receptors.", "journal": "Trends in endocrinology and metabolism: TEM", "date": "1999", "authors": "Freedman LP", "evidence": [ { "database": "Reactome", "id": "R-HSA-383280", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-383280" } ], "reference": [ { "type": "PubMed", "id": "10542397", "url": "https://glygen.org/publication/PubMed/10542397" } ] }, { "title": "T426I a new mutation in the thyroid hormone receptor beta gene in a sporadic patient with resistance to thyroid hormone and dysmorphism. Mutations in brief no. 192. Online.", "journal": "Human mutation", "date": "1998", "authors": "Menzaghi C, Di Paola R, Corrias A, Einaudi S, Trischitta V, De Sanctis C, De Filippis V", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "reference": [ { "type": "PubMed", "id": "10660344", "url": "https://glygen.org/publication/PubMed/10660344" } ] }, { "title": "The orphan nuclear receptor Ear-2 is a negative coregulator for thyroid hormone nuclear receptor function.", "journal": "Mol. Cell. Biol.", "date": "2000", "authors": "Zhu XG, Park KS, Kaneshige M, Bhat MK, Zhu Q, Mariash CN, McPhie P, Cheng SY", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "reference": [ { "type": "PubMed", "id": "10713182", "url": "https://glygen.org/publication/PubMed/10713182" } ] }, { "title": "Covalent modification of the androgen receptor by small ubiquitin-like modifier 1 (SUMO-1).", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Poukka H, Karvonen U, Janne OA, Palvimo JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "11121022", "url": "https://glygen.org/publication/PubMed/11121022" } ] }, { "title": "Biological roles and mechanistic actions of co-repressor complexes.", "journal": "Journal of cell science", "date": "2002", "authors": "Jepsen K, Rosenfeld MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-383280", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-383280" } ], "reference": [ { "type": "PubMed", "id": "11865025", "url": "https://glygen.org/publication/PubMed/11865025" } ] }, { "title": "ERAP140, a conserved tissue-specific nuclear receptor coactivator.", "journal": "Mol. Cell. Biol.", "date": "2002", "authors": "Shao W, Halachmi S, Brown M", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "reference": [ { "type": "PubMed", "id": "11971969", "url": "https://glygen.org/publication/PubMed/11971969" } ] }, { "title": "Identification of protein arginine methyltransferase 2 as a coactivator for estrogen receptor alpha.", "journal": "J. Biol. Chem.", "date": "2002", "authors": "Qi C, Chang J, Zhu Y, Yeldandi AV, Rao SM, Zhu YJ", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "reference": [ { "type": "PubMed", "id": "12039952", "url": "https://glygen.org/publication/PubMed/12039952" } ] }, { "title": "PIAS proteins modulate transcription factors by functioning as SUMO-1 ligases.", "journal": "Molecular and cellular biology", "date": "2002", "authors": "Kotaja N, Karvonen U, Janne OA, Palvimo JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "12077349", "url": "https://glygen.org/publication/PubMed/12077349" } ] }, { "title": "Small ubiquitin-related modifier-1 (SUMO-1) modification of the glucocorticoid receptor.", "journal": "The Biochemical journal", "date": "2002", "authors": "Tian S, Poukka H, Palvimo JJ, Janne OA", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "12144530", "url": "https://glygen.org/publication/PubMed/12144530" } ] }, { "title": "PIAS1 and PIASxalpha function as SUMO-E3 ligases toward androgen receptor and repress androgen receptor-dependent transcription.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Nishida T, Yasuda H", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "12177000", "url": "https://glygen.org/publication/PubMed/12177000" } ] }, { "title": "Thyroid hormone receptor-beta mutations conferring hormone resistance and reduced corepressor release exhibit decreased stability in the N-terminal ligand-binding domain.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2003", "authors": "Huber BR, Desclozeaux M, West BL, Cunha-Lima ST, Nguyen HT, Baxter JD, Ingraham HA, Fletterick RJ", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "reference": [ { "type": "PubMed", "id": "12511610", "url": "https://glygen.org/publication/PubMed/12511610" } ] }, { "title": "Two resistance to thyroid hormone mutants with impaired hormone binding.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2003", "authors": "Huber BR, Sandler B, West BL, Cunha Lima ST, Nguyen HT, Apriletti JW, Baxter JD, Fletterick RJ", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "reference": [ { "type": "PubMed", "id": "12554782", "url": "https://glygen.org/publication/PubMed/12554782" } ] }, { "title": "Thyroid receptor ligands. 1. Agonist ligands selective for the thyroid receptor beta1.", "journal": "Journal of medicinal chemistry", "date": "2003-04-24", "authors": "Ye Liu, Li Yi-Lin, Mellstr\u00f6m Karin, Mellin Charlotta, Bladh Lars-G\u00f6ran, Koehler Konrad, Garg Neeraj, Garcia Collazo Ana Maria, Litten Chris, Husman Bolette, Persson Karina, Ljunggren Jan, Grover Gary, Sleph Paul G, George Rocco, Malm Johan", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "reference": [ { "type": "PubMed", "id": "12699376", "url": "https://glygen.org/publication/PubMed/12699376" } ] }, { "title": "Identification of the putative MAP kinase docking site in the thyroid hormone receptor-beta1 DNA-binding domain: functional consequences of mutations at the docking site.", "journal": "Biochemistry", "date": "2003", "authors": "Lin HY, Zhang S, West BL, Tang HY, Passaretti T, Davis FB, Davis PJ", "evidence": [ { "database": "iPTMnet", "id": "P10828", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10828" } ], "reference": [ { "type": "PubMed", "id": "12809513", "url": "https://glygen.org/publication/PubMed/12809513" } ] }, { "title": "An arginine to histidine mutation in codon 315 of the c-erbA beta thyroid hormone receptor in a kindred with generalized resistance to thyroid hormones results in a receptor with significant 3,5,3'-triiodothyronine binding activity.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1992", "authors": "Cugini CD Jr, Leidy JW Jr, Chertow BS, Berard J, Bradley WE, Menke JB, Hao EH, Usala SJ", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "reference": [ { "type": "PubMed", "id": "1314846", "url": "https://glygen.org/publication/PubMed/1314846" } ] }, { "title": "A point mutation (Ala229 to Thr) in the hinge domain of the c-erbA beta thyroid hormone receptor gene in a family with generalized thyroid hormone resistance.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "1992", "authors": "Behr M, Loos U", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "reference": [ { "type": "PubMed", "id": "1324420", "url": "https://glygen.org/publication/PubMed/1324420" } ] }, { "title": "Protein inhibitor of activated signal transducer and activator of transcription 1 interacts with the N-terminal domain of mineralocorticoid receptor and represses its transcriptional activity: implication of small ubiquitin-related modifier 1 modification.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2003", "authors": "Tallec LP, Kirsh O, Lecomte MC, Viengchareun S, Zennaro MC, Dejean A, Lombes M", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "14500761", "url": "https://glygen.org/publication/PubMed/14500761" } ] }, { "title": "Ligand selectivity by seeking hydrophobicity in thyroid hormone receptor.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2003", "authors": "Borngraeber S, Budny MJ, Chiellini G, Cunha-Lima ST, Togashi M, Webb P, Baxter JD, Scanlan TS, Fletterick RJ", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "reference": [ { "type": "PubMed", "id": "14673100", "url": "https://glygen.org/publication/PubMed/14673100" } ] }, { "title": "Multiple messenger ribonucleic acid variants regulate cell-specific expression of human thyroid hormone receptor beta1.", "journal": "Mol. Endocrinol.", "date": "2004", "authors": "Frankton Sarah, Harvey Clare B, Gleason Lisa M, Fadel Abdessamad, Williams Graham R", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "reference": [ { "type": "PubMed", "id": "15105435", "url": "https://glygen.org/publication/PubMed/15105435" } ] }, { "title": "A unified nomenclature for protein subunits of mediator complexes linking transcriptional regulators to RNA polymerase II.", "journal": "Molecular cell", "date": "2004", "authors": "Bourbon HM, Aguilera A, Ansari AZ, Asturias FJ, Berk AJ, Bjorklund S, Blackwell TK, Borggrefe T, Carey M, Carlson M, Conaway JW, Conaway RC, Emmons SW, Fondell JD, Freedman LP, Fukasawa T, Gustafsson CM, Han M, He X, Herman PK, Hinnebusch AG, Holmberg S, Holstege FC, Jaehning JA, Kim YJ, Kuras L, Leutz A, Lis JT, Meisterernest M, Naar AM, Nasmyth K, Parvin JD, Ptashne M, Reinberg D, Ronne H, Sadowski I, Sakurai H, Sipiczki M, Sternberg PW, Stillman DJ, Strich R, Struhl K, Svejstrup JQ, Tuck S, Winston F, Roeder RG, Kornberg RD", "evidence": [ { "database": "Reactome", "id": "R-HSA-383280", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-383280" } ], "reference": [ { "type": "PubMed", "id": "15175151", "url": "https://glygen.org/publication/PubMed/15175151" } ] }, { "title": "Small ubiquitin-like modifier 1 (SUMO-1) modification of the synergy control motif of Ad4 binding protein/steroidogenic factor 1 (Ad4BP/SF-1) regulates synergistic transcription between Ad4BP/SF-1 and Sox9.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2004", "authors": "Komatsu T, Mizusaki H, Mukai T, Ogawa H, Baba D, Shirakawa M, Hatakeyama S, Nakayama KI, Yamamoto H, Kikuchi A, Morohashi K", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "15192080", "url": "https://glygen.org/publication/PubMed/15192080" } ] }, { "title": "SUMO modification of repression domains modulates function of nuclear receptor 5A1 (steroidogenic factor-1).", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Chen WY, Lee WC, Hsu NC, Huang F, Chung BC", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "15192092", "url": "https://glygen.org/publication/PubMed/15192092" } ] }, { "title": "Thyroxine-thyroid hormone receptor interactions.", "journal": "J. Biol. Chem.", "date": "2004", "authors": "Sandler B, Webb P, Apriletti JW, Huber BR, Togashi M, Cunha Lima ST, Juric S, Nilsson S, Wagner R, Fletterick RJ, Baxter JD", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "reference": [ { "type": "PubMed", "id": "15466465", "url": "https://glygen.org/publication/PubMed/15466465" } ] }, { "title": "Functional properties of a novel mutant thyroid hormone receptor in a family with generalized thyroid hormone resistance syndrome.", "journal": "Clinical endocrinology", "date": "1992", "authors": "Adams M, Nagaya T, Tone Y, Jameson JL, Chatterjee VK", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "reference": [ { "type": "PubMed", "id": "1563081", "url": "https://glygen.org/publication/PubMed/1563081" } ] }, { "title": "A point mutation of the T3 receptor beta 1 gene in a kindred of generalized resistance to thyroid hormone.", "journal": "Molecular and cellular endocrinology", "date": "1992", "authors": "Sasaki S, Nakamura H, Tagami T, Miyoshi Y, Tanaka K, Imura H", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "reference": [ { "type": "PubMed", "id": "1587388", "url": "https://glygen.org/publication/PubMed/1587388" } ] }, { "title": "Dynamic regulation of pol II transcription by the mammalian Mediator complex.", "journal": "Trends in biochemical sciences", "date": "2005", "authors": "Malik S, Roeder RG", "evidence": [ { "database": "Reactome", "id": "R-HSA-383280", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-383280" } ], "reference": [ { "type": "PubMed", "id": "15896744", "url": "https://glygen.org/publication/PubMed/15896744" } ] }, { "title": "SUMO-dependent compartmentalization in promyelocytic leukemia protein nuclear bodies prevents the access of LRH-1 to chromatin.", "journal": "Molecular and cellular biology", "date": "2005", "authors": "Chalkiadaki A, Talianidis I", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "15923626", "url": "https://glygen.org/publication/PubMed/15923626" } ] }, { "title": "Sumoylation of the estrogen receptor alpha hinge region regulates its transcriptional activity.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2005", "authors": "Sentis S, Le Romancer M, Bianchin C, Rostan MC, Corbo L", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "15961505", "url": "https://glygen.org/publication/PubMed/15961505" } ] }, { "title": "A point mutation in the 3,5,3'-triiodothyronine-binding domain of thyroid hormone receptor-beta associated with a family with generalized resistance to thyroid hormone.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1992", "authors": "Shuto Y, Wakabayashi I, Amuro N, Minami S, Okazaki T", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "reference": [ { "type": "PubMed", "id": "1619012", "url": "https://glygen.org/publication/PubMed/1619012" } ] }, { "title": "A homozygous deletion in the c-erbA beta thyroid hormone receptor gene in a patient with generalized thyroid hormone resistance: isolation and characterization of the mutant receptor.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "1991", "authors": "Usala SJ, Menke JB, Watson TL, Wondisford FE, Weintraub BD, Berard J, Bradley WE, Ono S, Mueller OT, Bercu BB", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "reference": [ { "type": "PubMed", "id": "1653889", "url": "https://glygen.org/publication/PubMed/1653889" } ] }, { "title": "Characterization of seven novel mutations of the c-erbA beta gene in unrelated kindreds with generalized thyroid hormone resistance. Evidence for two `hot spot` regions of the ligand binding domain.", "journal": "The Journal of clinical investigation", "date": "1991", "authors": "Parrilla R, Mixson AJ, McPherson JA, McClaskey JH, Weintraub BD", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "reference": [ { "type": "PubMed", "id": "1661299", "url": "https://glygen.org/publication/PubMed/1661299" } ] }, { "title": "Sensors and signals: a coactivator/corepressor/epigenetic code for integrating signal-dependent programs of transcriptional response.", "journal": "Genes & development", "date": "2006", "authors": "Rosenfeld MG, Lunyak VV, Glass CK", "evidence": [ { "database": "Reactome", "id": "R-HSA-383280", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-383280" } ], "reference": [ { "type": "PubMed", "id": "16751179", "url": "https://glygen.org/publication/PubMed/16751179" } ] }, { "title": "Structural rearrangements in the thyroid hormone receptor hinge domain and their putative role in the receptor function.", "journal": "Journal of molecular biology", "date": "2006", "authors": "Nascimento AS, Dias SM, Nunes FM, Aparicio R, Ambrosio AL, Bleicher L, Figueira AC, Santos MA, de Oliveira Neto M, Fischer H, Togashi M, Craievich AF, Garratt RC, Baxter JD, Webb P, Polikarpov I", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "reference": [ { "type": "PubMed", "id": "16781732", "url": "https://glygen.org/publication/PubMed/16781732" } ] }, { "title": "Mosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2006", "authors": "Mamanasiri S, Yesil S, Dumitrescu AM, Liao XH, Demir T, Weiss RE, Refetoff S", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "reference": [ { "type": "PubMed", "id": "16804041", "url": "https://glygen.org/publication/PubMed/16804041" } ] }, { "title": "Negative modulation of RXRalpha transcriptional activity by small ubiquitin-related modifier (SUMO) modification and its reversal by SUMO-specific protease SUSP1.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Choi SJ, Chung SS, Rho EJ, Lee HW, Lee MH, Choi HS, Seol JH, Baek SH, Bang OS, Chung CH", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "16912044", "url": "https://glygen.org/publication/PubMed/16912044" } ] }, { "title": "PIAS3 induction of PRB sumoylation represses PRB transactivation by destabilizing its retention in the nucleus.", "journal": "Nucleic acids research", "date": "2006", "authors": "Man JH, Li HY, Zhang PJ, Zhou T, He K, Pan X, Liang B, Li AL, Zhao J, Gong WL, Jin BF, Xia Q, Yu M, Shen BF, Zhang XM", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "17020914", "url": "https://glygen.org/publication/PubMed/17020914" } ] }, { "title": "Coactivation of the N-terminal transactivation of mineralocorticoid receptor by Ubc9.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Yokota K, Shibata H, Kurihara I, Kobayashi S, Suda N, Murai-Takeda A, Saito I, Kitagawa H, Kato S, Saruta T, Itoh H", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "17105732", "url": "https://glygen.org/publication/PubMed/17105732" } ] }, { "title": "Parallel SUMOylation-dependent pathways mediate gene- and signal-specific transrepression by LXRs and PPARgamma.", "journal": "Molecular cell", "date": "2007", "authors": "Ghisletti S, Huang W, Ogawa S, Pascual G, Lin ME, Willson TM, Rosenfeld MG, Glass CK", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "17218271", "url": "https://glygen.org/publication/PubMed/17218271" } ] }, { "title": "Sumoylation and proteasomal activity determine the transactivation properties of the mineralocorticoid receptor.", "journal": "Molecular and cellular endocrinology", "date": "2007", "authors": "Tirard M, Almeida OF, Hutzler P, Melchior F, Michaelidis TM", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "17314004", "url": "https://glygen.org/publication/PubMed/17314004" } ] }, { "title": "Human spot 14 protein interacts physically and functionally with the thyroid receptor.", "journal": "Biochemical and biophysical research communications", "date": "2007-05-25", "authors": "Chou Wei-Yuan, Cheng Yi-Shan, Ho Ching-Liang, Liu Shu-Ting, Liu Pei-Yao, Kuo Chen-Chin, Chang Hui-Ping, Chen Yu-Hou, Chang Gu-Gang, Huang Shih-Ming", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "reference": [ { "type": "PubMed", "id": "17418816", "url": "https://glygen.org/publication/PubMed/17418816" } ] }, { "title": "Phosphorylation-dependent antagonism of sumoylation derepresses progesterone receptor action in breast cancer cells.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2007", "authors": "Daniel AR, Faivre EJ, Lange CA", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "17717077", "url": "https://glygen.org/publication/PubMed/17717077" } ] }, { "title": "Structural basis of GC-1 selectivity for thyroid hormone receptor isoforms.", "journal": "BMC structural biology", "date": "2008-01-31", "authors": "Bleicher Lucas, Aparicio Ricardo, Nunes Fabio M, Martinez Leandro, Gomes Dias Sandra M, Figueira Ana Carolina Migliorini, Santos Maria Auxiliadora Morim, Venturelli Walter H, da Silva Rosangela, Donate Paulo Marcos, Neves Francisco Ar, Simeoni Luiz A, Baxter John D, Webb Paul, Skaf Munir S, Polikarpov Igor", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "reference": [ { "type": "PubMed", "id": "18237438", "url": "https://glygen.org/publication/PubMed/18237438" } ] }, { "title": "A new point mutation in the 3,5,3'-triiodothyronine-binding domain of the c-erbA beta thyroid hormone receptor is tightly linked to generalized thyroid hormone resistance.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1991", "authors": "Usala SJ, Menke JB, Watson TL, Berard WE, Bradley C, Bale AE, Lash RW, Weintraub BD", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "reference": [ { "type": "PubMed", "id": "1846005", "url": "https://glygen.org/publication/PubMed/1846005" } ] }, { "title": "Molecular basis for dimer formation of TRbeta variant D355R.", "journal": "Proteins", "date": "2009", "authors": "Jouravel N, Sablin E, Togashi M, Baxter JD, Webb P, Fletterick RJ", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "reference": [ { "type": "PubMed", "id": "18798561", "url": "https://glygen.org/publication/PubMed/18798561" } ] }, { "title": "SUMOylation of RORalpha potentiates transcriptional activation function.", "journal": "Biochemical and biophysical research communications", "date": "2009", "authors": "Hwang EJ, Lee JM, Jeong J, Park JH, Yang Y, Lim JS, Kim JH, Baek SH, Kim KI", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "19041634", "url": "https://glygen.org/publication/PubMed/19041634" } ] }, { "title": "Mechanisms underlying the control of progesterone receptor transcriptional activity by SUMOylation.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Abdel-Hafiz H, Dudevoir ML, Horwitz KB", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "19211567", "url": "https://glygen.org/publication/PubMed/19211567" } ] }, { "title": "Genotyping of resistance to thyroid hormone in South American population. Identification of seven novel missense mutations in the human thyroid hormone receptor beta gene.", "journal": "Molecular and cellular probes", "date": "2009", "authors": "Rivolta CM, Olcese MC, Belforte FS, Chiesa A, Gruneiro-Papendieck L, Iorcansky S, Herzovich V, Cassorla F, Gauna A, Gonzalez-Sarmiento R, Targovnik HM", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "reference": [ { "type": "PubMed", "id": "19268523", "url": "https://glygen.org/publication/PubMed/19268523" } ] }, { "title": "Transcriptional Suppression by Transient Recruitment of ARIP4 to Sumoylated nuclear receptor Ad4BP/SF-1.", "journal": "Molecular biology of the cell", "date": "2009", "authors": "Ogawa H, Komatsu T, Hiraoka Y, Morohashi K", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "19692572", "url": "https://glygen.org/publication/PubMed/19692572" } ] }, { "title": "Structural analysis of human thyroid hormone receptor beta gene.", "journal": "Mol. Cell. Endocrinol.", "date": "1990", "authors": "Sakurai A, Nakai A, DeGroot L J", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "reference": [ { "type": "PubMed", "id": "1973914", "url": "https://glygen.org/publication/PubMed/1973914" } ] }, { "title": "Small ubiquitin-like modifier-2 modification of retinoic acid receptor-alpha regulates its subcellular localization and transcriptional activity.", "journal": "Endocrinology", "date": "2009", "authors": "Zhu L, Santos NC, Kim KH", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "19850744", "url": "https://glygen.org/publication/PubMed/19850744" } ] }, { "title": "The bile acid receptor FXR is a modulator of intestinal innate immunity.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2009", "authors": "Vavassori P, Mencarelli A, Renga B, Distrutti E, Fiorucci S", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "19864602", "url": "https://glygen.org/publication/PubMed/19864602" } ] }, { "title": "Gaining ligand selectivity in thyroid hormone receptors via entropy.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2009", "authors": "Martinez L, Nascimento AS, Nunes FM, Phillips K, Aparicio R, Dias SM, Figueira AC, Lin JH, Nguyen P, Apriletti JW, Neves FA, Baxter JD, Webb P, Skaf MS, Polikarpov I", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "reference": [ { "type": "PubMed", "id": "19926848", "url": "https://glygen.org/publication/PubMed/19926848" } ] }, { "title": "SUMOylation of human peroxisome proliferator-activated receptor alpha inhibits its trans-activity through the recruitment of the nuclear corepressor NCoR.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Pourcet B, Pineda-Torra I, Derudas B, Staels B, Glineur C", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "19955185", "url": "https://glygen.org/publication/PubMed/19955185" } ] }, { "title": "The transforming acidic coiled coil (TACC1) protein modulates the transcriptional activity of the nuclear receptors TR and RAR.", "journal": "BMC Mol. Biol.", "date": "2010", "authors": "Guyot R, Vincent S, Bertin J, Samarut J, Ravel-Chapuis P", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "reference": [ { "type": "PubMed", "id": "20078863", "url": "https://glygen.org/publication/PubMed/20078863" } ] }, { "title": "GPS2-dependent corepressor/SUMO pathways govern anti-inflammatory actions of LRH-1 and LXRbeta in the hepatic acute phase response.", "journal": "Genes & development", "date": "2010", "authors": "Venteclef N, Jakobsson T, Ehrlund A, Damdimopoulos A, Mikkonen L, Ellis E, Nilsson LM, Parini P, Janne OA, Gustafsson JA, Steffensen KR, Treuter E", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "20159957", "url": "https://glygen.org/publication/PubMed/20159957" } ] }, { "title": "Pregnane X receptor is SUMOylated to repress the inflammatory response.", "journal": "The Journal of pharmacology and experimental therapeutics", "date": "2010", "authors": "Hu G, Xu C, Staudinger JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "20719936", "url": "https://glygen.org/publication/PubMed/20719936" } ] }, { "title": "Coactivation of SF-1-mediated transcription of steroidogenic enzymes by Ubc9 and PIAS1.", "journal": "Endocrinology", "date": "2011", "authors": "Suda N, Shibata H, Kurihara I, Ikeda Y, Kobayashi S, Yokota K, Murai-Takeda A, Nakagawa K, Oya M, Murai M, Rainey WE, Saruta T, Itoh H", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "21467194", "url": "https://glygen.org/publication/PubMed/21467194" } ] }, { "title": "A base mutation of the C-erbA beta thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds.", "journal": "The Journal of clinical investigation", "date": "1990", "authors": "Usala SJ, Tennyson GE, Bale AE, Lash RW, Gesundheit N, Wondisford FE, Accili D, Hauser P, Weintraub BD", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "reference": [ { "type": "PubMed", "id": "2153155", "url": "https://glygen.org/publication/PubMed/2153155" } ] }, { "title": "Thyroid hormone receptor isoform-specific modification by small ubiquitin-like modifier (SUMO) modulates thyroid hormone-dependent gene regulation.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Liu YY, Kogai T, Schultz JJ, Mody K, Brent GA", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "22930759", "url": "https://glygen.org/publication/PubMed/22930759" } ] }, { "title": "SUMOylation of the farnesoid X receptor (FXR) regulates the expression of FXR target genes.", "journal": "The Journal of biological chemistry", "date": "2013", "authors": "Balasubramaniyan N, Luo Y, Sun AQ, Suchy FJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "23546875", "url": "https://glygen.org/publication/PubMed/23546875" } ] }, { "title": "Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1989", "authors": "Sakurai A, Takeda K, Ain K, Ceccarelli P, Nakai A, Seino S, Bell GI, Refetoff S, DeGroot LJ", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "reference": [ { "type": "PubMed", "id": "2510172", "url": "https://glygen.org/publication/PubMed/2510172" } ] }, { "title": "Mapping of SUMO sites and analysis of SUMOylation changes induced by external stimuli.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2014", "authors": "Impens F, Radoshevich L, Cossart P, Ribet D", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "25114211", "url": "https://glygen.org/publication/PubMed/25114211" } ] }, { "title": "The c-erb-A gene encodes a thyroid hormone receptor.", "journal": "Nature", "date": "1986", "authors": "Weinberger C, Thompson CC, Ong ES, Lebo R, Gruol DJ, Evans RM", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "reference": [ { "type": "PubMed", "id": "2879243", "url": "https://glygen.org/publication/PubMed/2879243" } ] }, { "title": "Human steroid receptors and erbA proto-oncogene products: members of a new superfamily of enhancer binding proteins.", "journal": "Cold Spring Harb. Symp. Quant. Biol.", "date": "1986", "authors": "Weinberger C, Giguere V, Hollenberg S, Rosenfeld M G, Evans R M", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "reference": [ { "type": "PubMed", "id": "3034496", "url": "https://glygen.org/publication/PubMed/3034496" } ] }, { "title": "Low THRB (thyroid hormone receptor beta) Promoter Methylation Levels in Peripheral Blood Leukocytes Induced By Systematic Inflammation Are Involved in Low Thyroid Hormone Function in Metabolic Syndrome.", "journal": "Hypertension (Dallas, Tex. : 1979)", "date": "2021", "authors": "Cui B, Xiao X, Wang J, Wang H, Wu C, Yan Y, Zheng J, Wang J, Zong Y, Zhang Y, Hui R, Gerdes AM, Wang Y", "evidence": [ { "database": "RefSeq", "id": "NP_000452", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000452" } ], "reference": [ { "type": "PubMed", "id": "34397273", "url": "https://glygen.org/publication/PubMed/34397273" } ] }, { "title": "Atrial Fibrillation with Heart Failure in a Case with Resistance to Thyroid Hormone Due to a Rare Thyroid Hormone Receptor \u03b2 Gene Mutation.", "journal": "International journal of molecular sciences", "date": "2022-12-03", "authors": "Lai Huei-Pin, Chen Mei-Hsiu", "evidence": [ { "database": "RefSeq", "id": "NP_000452", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000452" } ], "reference": [ { "type": "PubMed", "id": "36499571", "url": "https://glygen.org/publication/PubMed/36499571" } ] }, { "title": "Thyroid hormone Beta receptor agonists for treatment of kidney disease: A promising agent?", "journal": "European journal of clinical investigation", "date": "2023-05", "authors": "Copur Sidar, Yavuz Furkan, Kanbay Mehmet", "evidence": [ { "database": "RefSeq", "id": "NP_000452", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000452" } ], "reference": [ { "type": "PubMed", "id": "36537819", "url": "https://glygen.org/publication/PubMed/36537819" } ] }, { "title": "Effect of the Fetal THRB Genotype on the Placenta.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2023-09-18", "authors": "Salas-Lucia Federico, Stan Marius N, James Haleigh, Rajwani Aadil, Liao Xiao-Hui, Dumitrescu Alexandra M, Refetoff Samuel", "evidence": [ { "database": "RefSeq", "id": "NP_000452", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000452" } ], "reference": [ { "type": "PubMed", "id": "37149816", "url": "https://glygen.org/publication/PubMed/37149816" } ] }, { "title": "A novel C-terminal domain in the thyroid hormone receptor selectively mediates thyroid hormone inhibition.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Flynn TR, Hollenberg AN, Cohen O, Menke JB, Usala SJ, Tollin S, Hegarty MK, Wondisford FE", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "reference": [ { "type": "PubMed", "id": "7528740", "url": "https://glygen.org/publication/PubMed/7528740" } ] }, { "title": "Structural determinants of nuclear receptor assembly on DNA direct repeats.", "journal": "Nature", "date": "1995", "authors": "Rastinejad F, Perlmann T, Evans RM, Sigler PB", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "reference": [ { "type": "PubMed", "id": "7746322", "url": "https://glygen.org/publication/PubMed/7746322" } ] }, { "title": "Resistance to thyroid hormone in subjects from two unrelated families is associated with a point mutation in the thyroid hormone receptor beta gene resulting in the replacement of the normal proline 453 with serine.", "journal": "Thyroid : official journal of the American Thyroid Association", "date": "1994", "authors": "Refetoff S, Weiss RE, Wing JR, Sarne D, Chyna B, Hayashi Y", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "reference": [ { "type": "PubMed", "id": "7833659", "url": "https://glygen.org/publication/PubMed/7833659" } ] }, { "title": "A new point mutation (C446R) in the thyroid hormone receptor-beta gene of a family with resistance to thyroid hormone.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1994", "authors": "Weiss RE, Chyna B, Duell PB, Hayashi Y, Sunthornthepvarakul T, Refetoff S", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "reference": [ { "type": "PubMed", "id": "8175986", "url": "https://glygen.org/publication/PubMed/8175986" } ] }, { "title": "An arginine to histidine mutation in codon 311 of the C-erbA beta gene results in a mutant thyroid hormone receptor that does not mediate a dominant negative phenotype.", "journal": "The Journal of clinical investigation", "date": "1993", "authors": "Geffner ME, Su F, Ross NS, Hershman JM, Van Dop C, Menke JB, Hao E, Stanzak RK, Eaton T, Samuels HH, et al.", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "reference": [ { "type": "PubMed", "id": "8381821", "url": "https://glygen.org/publication/PubMed/8381821" } ] }, { "title": "Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid hormone receptor beta gene. Analysis of 15 families.", "journal": "The Journal of clinical investigation", "date": "1993", "authors": "Weiss RE, Weinberg M, Refetoff S", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "reference": [ { "type": "PubMed", "id": "8514853", "url": "https://glygen.org/publication/PubMed/8514853" } ] }, { "title": "New point mutation (R243W) in the hormone binding domain of the c-erbA beta 1 gene in a family with generalized resistance to thyroid hormone.", "journal": "Human mutation", "date": "1996", "authors": "Pohlenz J, Schonberger W, Wemme H, Winterpacht A, Wirth S, Zabel B", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "reference": [ { "type": "PubMed", "id": "8664910", "url": "https://glygen.org/publication/PubMed/8664910" } ] }, { "title": "Rapid molecular diagnosis of mutations associated with generalized thyroid hormone resistance by PCR-coupled automated direct sequencing of genomic DNA: detection of two novel mutations.", "journal": "Human mutation", "date": "1996", "authors": "Seto D, Weintraub BD", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "reference": [ { "type": "PubMed", "id": "8889584", "url": "https://glygen.org/publication/PubMed/8889584" } ] }, { "title": "The TRAP220 component of a thyroid hormone receptor- associated protein (TRAP) coactivator complex interacts directly with nuclear receptors in a ligand-dependent fashion.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1998", "authors": "Yuan CX, Ito M, Fondell JD, Fu ZY, Roeder RG", "evidence": [ { "database": "Reactome", "id": "R-HSA-383280", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-383280" } ], "reference": [ { "type": "PubMed", "id": "9653119", "url": "https://glygen.org/publication/PubMed/9653119" } ] } ], "pathway": [ { "id": "hsa:7068", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:7068", "resource": "KEGG Pathway" }, { "id": "R-HSA-383280", "name": "Nuclear Receptor transcription pathway", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-383280", "resource": "Reactome", "description": "Nuclear Receptor transcription pathway" }, { "id": "R-HSA-4090294", "name": "SUMOylation of intracellular receptors", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294", "resource": "Reactome", "description": "SUMOylation of intracellular receptors" } ], "orthologs": [ { "uniprot_canonical_ac": "P18113-1", "protein_name": "Thyroid hormone receptor beta", "gene_name": "Thrb", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MTPNSMTENRLPAWDKQKPHPDRGQDWKLVGMSEACLHRKSHVERRGALKNEQTSSHLIQATWASSIFHLDPDDVNDQSVSSAQTFQTEEKKCKGYIPSYLDKDELCVVCGDKATGYHYRCITCEGCKGFFRRTIQKSLHPSYSCKYEGKCIIDKVTRNQCQECRFKKCIYVGMATDLVLDDSKRLAKRKLIEENREKRRREELQKSIGHKPEPTDEEWELIKTVTEAHVATNAQGSHWKQKRKFLPEDIGQAPIVNAPEGGQVDLEAFSHFTKIITPAITRVVDFAKKLPMFCELPCEDQIILLKGCCMEIMSLRAAVRYDPDSETLTLNGEMAVTRGQLKNGGLGVVSDAIFDLGMSLSSFNLDDTEVALLQAVLLMSSDRPGLACVERIEKYQDSFLLAFEHYINYRKHHVTHFWPKLLMKVTDLRMIGACHASRFLHMKVECPTELFPPLFLEVFED", "length": 461 }, "evidence": [ { "id": "45917485", "url": "http://www.informatics.jax.org/homology/45917485", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P37242-1", "protein_name": "Thyroid hormone receptor beta", "gene_name": "Thrb", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MTPNSMTENGLPAWDKQKPRPDRGQDWKLVGMSEACLHRKSHVERRGALKNEQTSPHLIQATWTSSIFHLDPDDVNDQSISSAQTFQTEEKKCKGYIPSYLDKDELCVVCGDKATGYHYRCITCEGCKGFFRRTIQKSLHPSYSCKYEGKCIIDKVTRNQCQECRFKKCIYVGMATDLVLDDSKRLAKRKLIEENREKRRREELQKSIGHKPEPTDEEWELIKTVTEAHVATNAQGSHWKQKRKFLPEDIGQAPIVNAPEGGKVDLEAFSHFTKIITPAITRVVDFAKKLPMFCELPCEDQIILLKGCCMEIMSLRAAVRYDPDSETLTLNGEMAVTRGQLKNGGLGVVSDAIFDLGMSLSSFNLDDTEVALLQAVLLMSSDRPGLACVERIEKYQDSFLLAFEHYINYRKHHVTHFWPKLLMKVTDLRMIGACHASRFLHMKVECPTELFPPLFLEVFED", "length": 461 }, "evidence": [ { "id": "45917485", "url": "http://www.informatics.jax.org/homology/45917485", "database": "MGI" }, { "id": "P10828", "url": "https://omabrowser.org/oma/group/P10828/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulator complex", "id": "GO:0090575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090575", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 12, "go_terms": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "pmid": "" }, { "name": "nuclear receptor activity", "id": "GO:0004879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004879", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "pmid": "" }, { "name": "thyroid hormone binding", "id": "GO:0070324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070324", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "pmid": "" }, { "name": "chromatin DNA binding", "id": "GO:0031490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031490", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "pmid": "" }, { "name": "transcription coactivator binding", "id": "GO:0001223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001223", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 16, "go_terms": [ { "name": "negative regulation of female receptivity", "id": "GO:0007621", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007621", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "pmid": "" }, { "name": "regulation of heart contraction", "id": "GO:0008016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008016", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "pmid": "" }, { "name": "retinoic acid receptor signaling pathway", "id": "GO:0048384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048384", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "pmid": "" }, { "name": "mRNA transcription by RNA polymerase II", "id": "GO:0042789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042789", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "pmid": "" }, { "name": "cellular response to thyroid hormone stimulus", "id": "GO:0097067", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097067", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "pmid": "" }, { "name": "retinal cone cell development", "id": "GO:0046549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046549", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "pmid": "" }, { "name": "type I pneumocyte differentiation", "id": "GO:0060509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060509", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "pmid": "" }, { "name": "thyroid hormone mediated signaling pathway", "id": "GO:0002154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002154", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "pmid": "" }, { "name": "female courtship behavior", "id": "GO:0008050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008050", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "pmid": "" }, { "name": "retinal cone cell apoptotic process", "id": "GO:0097474", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097474", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "pmid": "" }, { "name": "positive regulation of thyroid hormone mediated signaling pathway", "id": "GO:0002157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002157", "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprot/P10828" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [ 142 ], "sequon_annotation_sites": [] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 78 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }