{ "uniprot_canonical_ac": "O00204-1", "uniprot_ac": "O00204", "uniprot_id": "ST2B1_HUMAN", "mass": { "chemical_mass": 41308.0, "monoisotopic_mass": 41308.0 }, "refseq": { "ac": "NP_004596", "name": "sulfotransferase 2B1 isoform a", "summary": "Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene sulfates dehydroepiandrosterone but not 4-nitrophenol, a typical substrate for the phenol and estrogen sulfotransferase subfamilies. Two alternatively spliced variants that encode different isoforms have been described. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004596" }, "gene_names": [ { "name": "SULT2B1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00204", "id": "O00204" }, { "name": "ARCI14; HSST2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004596", "id": "NP_004596" }, { "name": "HSST2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00204", "id": "O00204" }, { "name": "SULT2B1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004596", "id": "NP_004596" } ], "protein_names": [ { "name": "Sulfotransferase 2B1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00204" }, { "name": "2.8.2.2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00204" }, { "name": "Alcohol sulfotransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00204" }, { "name": "Hydroxysteroid sulfotransferase 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00204" }, { "name": "ST2B1; sulfotransferase 2B1; alcohol sulfotransferase; hydroxysteroid sulfotransferase 2; sulfotransferase family, cytosolic, 2B, member 1; hydroxysteroid sulfotransferase SULT2B1a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004596", "id": "NP_004596" }, { "name": "ST2B1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00204" }, { "name": "Sulfotransferase family 2B member 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00204" }, { "name": "Sulfotransferase family cytosolic 2B member 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00204" }, { "name": "sulfotransferase 2B1 isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004596", "id": "NP_004596" } ], "function": [ { "annotation": "Data suggest therapeutic approaches to decrease sulphotransferase 2B1b (SULT2B1b) expression might be potentially beneficial for coronary artery disease (CAD) prevention by decreasing intracellular cholesterol.", "evidence": [ { "database": "RefSeq", "id": "NP_004596", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004596" }, { "database": "PubMed", "id": "31957803", "url": "https://glygen.org/publication/PubMed/31957803" } ] }, { "annotation": "Macrophage Sult2b1 promotes pathological neovascularization in age-related macular degeneration. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004596", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004596" }, { "database": "PubMed", "id": "37550000", "url": "https://glygen.org/publication/PubMed/37550000" } ] }, { "annotation": "Sulfonates pregnenolone but not cholesterol.", "evidence": [ { "database": "UniProtKB", "id": "O00204", "url": "https://www.uniprot.org/uniprot/O00204#function" }, { "database": "PubMed", "id": "12145317", "url": "https://glygen.org/publication/PubMed/12145317" } ] }, { "annotation": "Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene sulfates dehydroepiandrosterone but not 4-nitrophenol, a typical substrate for the phenol and estrogen sulfotransferase subfamilies. Two alternatively spliced variants that encode different isoforms have been described. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_004596", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004596" } ] }, { "annotation": "Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation. Responsible for the sulfation of cholesterol (PubMed:19589875, PubMed:12145317). Catalyzes sulfation of the 3beta-hydroxyl groups of steroids, such as, pregnenolone and dehydroepiandrosterone (DHEA) (PubMed:9799594, PubMed:12145317, PubMed:21855633, PubMed:16855051). Preferentially sulfonates cholesterol, while it has also significant activity with pregnenolone and DHEA (PubMed:12145317, PubMed:21855633). Plays a role in epidermal cholesterol metabolism and in the regulation of epidermal proliferation and differentiation (PubMed:28575648).", "evidence": [ { "database": "UniProtKB", "id": "O00204", "url": "https://www.uniprot.org/uniprot/O00204#function" }, { "database": "PubMed", "id": "9799594", "url": "https://glygen.org/publication/PubMed/9799594" }, { "database": "PubMed", "id": "21855633", "url": "https://glygen.org/publication/PubMed/21855633" }, { "database": "PubMed", "id": "28575648", "url": "https://glygen.org/publication/PubMed/28575648" }, { "database": "PubMed", "id": "16855051", "url": "https://glygen.org/publication/PubMed/16855051" }, { "database": "PubMed", "id": "19589875", "url": "https://glygen.org/publication/PubMed/19589875" }, { "database": "PubMed", "id": "12145317", "url": "https://glygen.org/publication/PubMed/12145317" } ] }, { "annotation": "The promoter hypermethylation of SULT2B1 accelerates esophagus tumorigenesis via downregulated PER1. Erratum:[Thorac Cancer. 2022 Sep;13(18):2664-2665. PMID: 36106348]", "evidence": [ { "database": "RefSeq", "id": "NP_004596", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004596" }, { "database": "PubMed", "id": "34730281", "url": "https://glygen.org/publication/PubMed/34730281" } ] }, { "annotation": "Undetectable in nearly all castration-resistant prostate cancer metastases (73 visceral, 82 bone) from 50 autopsy cases", "evidence": [ { "database": "RefSeq", "id": "NP_004596", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004596" }, { "database": "PubMed", "id": "31894239", "url": "https://glygen.org/publication/PubMed/31894239" } ] } ], "disease": [ { "disease_id": "DOID:0080258", "recommended_name": { "id": "DOID:0080258", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080258", "name": "autosomal recessive congenital ichthyosis 14", "description": "An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the SULT2B1 gene on chromosome 19q13." }, "synonyms": [ { "id": "MONDO:0033091", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033091", "name": "ichthyosis, congenital, autosomal recessive 14", "description": "" }, { "id": "MONDO:0033091", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033091", "name": "ichthyosis, congenital, autosomal recessive 14", "description": "" }, { "id": "MONDO:0033091", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033091", "name": "ARCI14", "description": "" }, { "id": "MONDO:0033091", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033091", "name": "autosomal recessive congenital ichthyosis 14", "description": "" }, { "id": "MIM:617571", "resource": "MIM", "url": "https://www.omim.org/entry/617571", "name": "Ichthyosis, congenital, autosomal recessive 14", "description": "Ichthyosis, congenital, autosomal recessive 14" } ], "evidence": [ { "id": "617571", "database": "MIM", "url": "https://www.omim.org/entry/617571" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 19, "end_pos": 19, "sequence_org": "D", "sequence_mut": "A", "comment": "Increases the cholesterol sulfotransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O00204", "url": "https://www.uniprot.org/uniprot/O00204" }, { "database": "PubMed", "id": "12145317", "url": "https://glygen.org/publication/PubMed/12145317" } ] }, { "start_pos": 1, "end_pos": 18, "sequence_org": "MDGPAEPQIPGLWDTYED", "sequence_mut": "", "comment": "Increases the cholesterol sulfotransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O00204", "url": "https://www.uniprot.org/uniprot/O00204" }, { "database": "PubMed", "id": "12145317", "url": "https://glygen.org/publication/PubMed/12145317" } ] }, { "start_pos": 1, "end_pos": 23, "sequence_org": "MDGPAEPQIPGLWDTYEDDISEI", "sequence_mut": "", "comment": "Loss of the cholesterol sulfotransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O00204", "url": "https://www.uniprot.org/uniprot/O00204" }, { "database": "PubMed", "id": "12145317", "url": "https://glygen.org/publication/PubMed/12145317" } ] }, { "start_pos": 20, "end_pos": 20, "sequence_org": "I", "sequence_mut": "A", "comment": "Loss of the cholesterol sulfotransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O00204", "url": "https://www.uniprot.org/uniprot/O00204" }, { "database": "PubMed", "id": "12145317", "url": "https://glygen.org/publication/PubMed/12145317" } ] }, { "start_pos": 21, "end_pos": 21, "sequence_org": "S", "sequence_mut": "A", "comment": "Increases the cholesterol sulfotransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O00204", "url": "https://www.uniprot.org/uniprot/O00204" }, { "database": "PubMed", "id": "12145317", "url": "https://glygen.org/publication/PubMed/12145317" } ] }, { "start_pos": 22, "end_pos": 22, "sequence_org": "E", "sequence_mut": "A", "comment": "Increases the cholesterol sulfotransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O00204", "url": "https://www.uniprot.org/uniprot/O00204" }, { "database": "PubMed", "id": "12145317", "url": "https://glygen.org/publication/PubMed/12145317" } ] }, { "start_pos": 23, "end_pos": 23, "sequence_org": "I", "sequence_mut": "A", "comment": "Loss of the cholesterol sulfotransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O00204", "url": "https://www.uniprot.org/uniprot/O00204" }, { "database": "PubMed", "id": "12145317", "url": "https://glygen.org/publication/PubMed/12145317" } ] }, { "start_pos": 347, "end_pos": 347, "sequence_org": "S", "sequence_mut": "A", "comment": "No change in subcellular localization.", "evidence": [ { "database": "UniProtKB", "id": "O00204", "url": "https://www.uniprot.org/uniprot/O00204" }, { "database": "PubMed", "id": "21855633", "url": "https://glygen.org/publication/PubMed/21855633" } ] }, { "start_pos": 348, "end_pos": 348, "sequence_org": "S", "sequence_mut": "D", "comment": "10-fold increase in specific activity for DHEA sulfation. 10-fold increase in substrate affinity for DHEA and pregnenolone. No effect on substrate affinity for PAPS. Increases enzyme stability.", "evidence": [ { "database": "UniProtKB", "id": "O00204", "url": "https://www.uniprot.org/uniprot/O00204" }, { "database": "PubMed", "id": "21855633", "url": "https://glygen.org/publication/PubMed/21855633" } ] }, { "start_pos": 348, "end_pos": 348, "sequence_org": "S", "sequence_mut": "G", "comment": "Abolishes nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O00204", "url": "https://www.uniprot.org/uniprot/O00204" }, { "database": "PubMed", "id": "21855633", "url": "https://glygen.org/publication/PubMed/21855633" } ] }, { "start_pos": 352, "end_pos": 352, "sequence_org": "S", "sequence_mut": "G", "comment": "No change in subcellular localization.", "evidence": [ { "database": "UniProtKB", "id": "O00204", "url": "https://www.uniprot.org/uniprot/O00204" }, { "database": "PubMed", "id": "21855633", "url": "https://glygen.org/publication/PubMed/21855633" } ] }, { "start_pos": 357, "end_pos": 357, "sequence_org": "S", "sequence_mut": "G", "comment": "No change in subcellular localization.", "evidence": [ { "database": "UniProtKB", "id": "O00204", "url": "https://www.uniprot.org/uniprot/O00204" }, { "database": "PubMed", "id": "21855633", "url": "https://glygen.org/publication/PubMed/21855633" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "70.08", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000088002", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000088002" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "93.39", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000088002", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000088002" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "57.49", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000088002", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000088002" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "85.65", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000088002", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000088002" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "56.07", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000088002", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000088002" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "46.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000088002", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000088002" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "63.58", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000088002", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000088002" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "59.91", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000088002", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000088002" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "63.29", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000088002", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000088002" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "60.49", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000088002", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000088002" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "44.02", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000088002", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000088002" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "89.03", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000088002", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000088002" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "70.47", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000088002", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000088002" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O00204", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00204" } ], "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": "O00204", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00204" } ], "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": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O00204", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00204" } ], "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": "O00204", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00204" } ], "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": "O00204", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00204" } ], "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": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O00204", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00204" } ], "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": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O00204", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00204" } ], "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": "O00204", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00204" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O00204", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00204" } ], "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": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O00204", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00204" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O00204", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00204" } ], "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": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O00204", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00204" } ], "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": "O00204", "url": "https://www.uniprot.org/uniprot/O00204" } ], "common_name": "Human" } ], "gene": [ { "name": "SULT2B1", "url": "https://www.uniprot.org/uniprot/O00204", "locus": { "chromosome": "19", "start_pos": 48599425, "end_pos": 48552172, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000088002", "url": "https://www.ensembl.org/id/ENSG00000088002" } ] } } ], "crossref": [ { "id": "ENSG00000088002", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000088002", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "CHEMBL1743297", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL1743297", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "SULT2B1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=SULT2B1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "6820", "url": "https://www.ncbi.nlm.nih.gov/gene/6820", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "11459", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11459", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O00204", "url": "https://www.ebi.ac.uk/intact/interactors/id:O00204*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000863", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000863", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR027417", "url": "https://www.ebi.ac.uk/interpro/entry/IPR027417", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:6820", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6820", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "604125", "url": "http://www.omim.org/entry/604125", "database": "MIM", "categories": [ "Other" ] }, { "id": "617571", "url": "http://www.omim.org/entry/617571", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O00204", "url": "https://www.nextprot.org/entry/NX_O00204", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "LAYWKAY", "url": "https://omabrowser.org/oma/group/LAYWKAY/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3083090at2759", "url": "http://www.orthodb.org/?query=3083090at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11783", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11783", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11783:SF9", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11783:SF9", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1Q1Q", "url": "https://www.rcsb.org/structure/1Q1Q", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1Q1Z", "url": "https://www.rcsb.org/structure/1Q1Z", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1Q20", "url": "https://www.rcsb.org/structure/1Q20", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1Q22", "url": "https://www.rcsb.org/structure/1Q22", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00685", "url": "http://pfam.xfam.org/family/PF00685", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O00204", "url": "https://pharos.nih.gov/targets/O00204", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O00204", "url": "http://purl.obolibrary.org/obo/PR_O00204", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_004596", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004596", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "22552", "url": "https://www.rhea-db.org/rhea/22552", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "51216", "url": "https://www.rhea-db.org/rhea/51216", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "52348", "url": "https://www.rhea-db.org/rhea/52348", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "52356", "url": "https://www.rhea-db.org/rhea/52356", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "52368", "url": "https://www.rhea-db.org/rhea/52368", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "O00204", "url": "https://www.uniprot.org/uniprot/O00204", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00204-1", "url": "https://www.uniprot.org/uniprot/O00204-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00204-2", "url": "https://www.uniprot.org/uniprot/O00204-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MDGPAEPQIPGLWDTYEDDISEISQKLPGEYFRYKGVPFPVGLYSLESISLAENTQDVRDDDIFIITYPKSGTTWMIEIICLILKEGDPSWIRSVPIWERAPWCETIVGAFSLPDQYSPRLMSSHLPIQIFTKAFFSSKAKVIYMGRNPRDVVVSLYHYSKIAGQLKDPGTPDQFLRDFLKGEVQFGSWFDHIKGWLRMKGKDNFLFITYEELQQDLQGSVERICGFLGRPLGKEALGSVVAHSTFSAMKANTMSNYTLLPPSLLDHRRGAFLRKGVCGDWKNHFTVAQSEAFDRAYRKQMRGMPTFPWDEDPEEDGSPDPEPSPEPEPKPSLEPNTSLEREPRPNSSPSPSPGQASETPHPRPS", "length": 365, "header": "sp|O00204-1|ST2B1_HUMAN Isoform 1 of Sulfotransferase 2B1 OS=Homo sapiens OX=9606 GN=SULT2B1 PE=1 SV=2 CANONICAL=O00204-1" }, "isoforms": [ { "isoform_ac": "O00204-1", "url": "", "sequence": { "sequence": "MDGPAEPQIPGLWDTYEDDISEISQKLPGEYFRYKGVPFPVGLYSLESISLAENTQDVRDDDIFIITYPKSGTTWMIEIICLILKEGDPSWIRSVPIWERAPWCETIVGAFSLPDQYSPRLMSSHLPIQIFTKAFFSSKAKVIYMGRNPRDVVVSLYHYSKIAGQLKDPGTPDQFLRDFLKGEVQFGSWFDHIKGWLRMKGKDNFLFITYEELQQDLQGSVERICGFLGRPLGKEALGSVVAHSTFSAMKANTMSNYTLLPPSLLDHRRGAFLRKGVCGDWKNHFTVAQSEAFDRAYRKQMRGMPTFPWDEDPEEDGSPDPEPSPEPEPKPSLEPNTSLEREPRPNSSPSPSPGQASETPHPRPS", "length": 365, "header": "sp|O00204-1|ST2B1_HUMAN Isoform 1 of Sulfotransferase 2B1 OS=Homo sapiens OX=9606 GN=SULT2B1 PE=1 SV=2 CANONICAL=O00204-1" }, "locus": { "chromosome": "19", "start_pos": 48599403, "end_pos": 48552253, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000201586.7", "url": "https://www.ensembl.org/id/ENST00000201586.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000201586.2", "url": "https://www.ensembl.org/id/ENSP00000201586.2" } ] } }, { "isoform_ac": "O00204-2", "url": "", "sequence": { "sequence": "MASPPPFHSQKLPGEYFRYKGVPFPVGLYSLESISLAENTQDVRDDDIFIITYPKSGTTWMIEIICLILKEGDPSWIRSVPIWERAPWCETIVGAFSLPDQYSPRLMSSHLPIQIFTKAFFSSKAKVIYMGRNPRDVVVSLYHYSKIAGQLKDPGTPDQFLRDFLKGEVQFGSWFDHIKGWLRMKGKDNFLFITYEELQQDLQGSVERICGFLGRPLGKEALGSVVAHSTFSAMKANTMSNYTLLPPSLLDHRRGAFLRKGVCGDWKNHFTVAQSEAFDRAYRKQMRGMPTFPWDEDPEEDGSPDPEPSPEPEPKPSLEPNTSLEREPRPNSSPSPSPGQASETPHPRPS", "length": 350, "header": "sp|O00204-2|ST2B1_HUMAN Isoform 2 of Sulfotransferase 2B1 OS=Homo sapiens OX=9606 GN=SULT2B1 PE=1 SV=2 CANONICAL=O00204-1" }, "locus": { "chromosome": "19", "start_pos": 48599403, "end_pos": 48575915, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000323090.4", "url": "https://www.ensembl.org/id/ENST00000323090.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000312880.3", "url": "https://www.ensembl.org/id/ENSP00000312880.3" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 132, "end_pos": 132, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00204", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00204" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr132" }, { "start_pos": 348, "end_pos": 348, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00204", "url": "https://www.uniprot.org/uniprot/O00204" }, { "database": "PubMed", "id": "21855633", "url": "https://glygen.org/publication/PubMed/21855633" }, { "database": "iPTMnet", "id": "O00204", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00204" } ], "site_lbl": "Ser348" } ], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Mutational analysis of human hydroxysteroid sulfotransferase SULT2B1 isoforms reveals that exon 1B of the SULT2B1 gene produces cholesterol sulfotransferase, whereas exon 1A yields pregnenolone sulfotransferase.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Fuda H, Lee YC, Shimizu C, Javitt NB, Strott CA", "evidence": [ { "database": "UniProtKB", "id": "O00204", "url": "https://www.uniprot.org/uniprot/O00204" } ], "reference": [ { "type": "PubMed", "id": "12145317", "url": "https://glygen.org/publication/PubMed/12145317" } ] }, { "title": "Crystal structure of human cholesterol sulfotransferase (SULT2B1b) in the presence of pregnenolone and 3'-phosphoadenosine 5'-phosphate. Rationale for specificity differences between prototypical SULT2A1 and the SULT2BG1 isoforms.", "journal": "J. Biol. Chem.", "date": "2003", "authors": "Lee Karen A, Fuda Hirotoshi, Lee Young C, Negishi Masahiko, Strott Charles A, Pedersen Lars C", "evidence": [ { "database": "UniProtKB", "id": "O00204", "url": "https://www.uniprot.org/uniprot/O00204" } ], "reference": [ { "type": "PubMed", "id": "12923182", "url": "https://glygen.org/publication/PubMed/12923182" } ] }, { "title": "Characterization of proline-serine-rich carboxyl terminus in human sulfotransferase 2B1b: immunogenicity, subcellular localization, kinetic properties, and phosphorylation.", "journal": "Drug metabolism and disposition: the biological fate of chemicals", "date": "2006", "authors": "He D, Falany CN", "evidence": [ { "database": "UniProtKB", "id": "O00204", "url": "https://www.uniprot.org/uniprot/O00204" } ], "reference": [ { "type": "PubMed", "id": "16855051", "url": "https://glygen.org/publication/PubMed/16855051" } ] }, { "title": "24-hydroxycholesterol sulfation by human cytosolic sulfotransferases: formation of monosulfates and disulfates, molecular modeling, sulfatase sensitivity, and inhibition of liver x receptor activation.", "journal": "Drug metabolism and disposition: the biological fate of chemicals", "date": "2009-10", "authors": "Cook Ian T, Duniec-Dmuchowski Zofia, Kocarek Thomas A, Runge-Morris Melissa, Falany Charles N", "evidence": [ { "database": "UniProtKB", "id": "O00204", "url": "https://www.uniprot.org/uniprot/O00204" } ], "reference": [ { "type": "PubMed", "id": "19589875", "url": "https://glygen.org/publication/PubMed/19589875" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O00204-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00204-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Site-directed mutagenesis of human cytosolic sulfotransferase (SULT) 2B1b to phospho-mimetic Ser348Asp results in an isoform with increased catalytic activity.", "journal": "The Journal of steroid biochemistry and molecular biology", "date": "2011", "authors": "Salman ED, He D, Runge-Morris M, Kocarek TA, Falany CN", "evidence": [ { "database": "UniProtKB", "id": "O00204", "url": "https://www.uniprot.org/uniprot/O00204" }, { "database": "iPTMnet", "id": "O00204", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00204" } ], "reference": [ { "type": "PubMed", "id": "21855633", "url": "https://glygen.org/publication/PubMed/21855633" } ] }, { "title": "Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.", "journal": "American journal of human genetics", "date": "2017", "authors": "Heinz L, Kim GJ, Marrakchi S, Christiansen J, Turki H, Rauschendorf MA, Lathrop M, Hausser I, Zimmer AD, Fischer J", "evidence": [ { "database": "UniProtKB", "id": "O00204", "url": "https://www.uniprot.org/uniprot/O00204" } ], "reference": [ { "type": "PubMed", "id": "28575648", "url": "https://glygen.org/publication/PubMed/28575648" } ] }, { "title": "Inhibitory Interplay of SULT2B1b Sulfotransferase with AKR1C3 Aldo-keto Reductase in Prostate Cancer.", "journal": "Endocrinology", "date": "2020", "authors": "Park S, Song CS, Lin CL, Jiang S, Osmulski PA, Wang CM, Marck BT, Matsumoto AM, Morrissey C, Gaczynska ME, Chen Y, Mostaghel EA, Chatterjee B", "evidence": [ { "database": "RefSeq", "id": "NP_004596", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004596" } ], "reference": [ { "type": "PubMed", "id": "31894239", "url": "https://glygen.org/publication/PubMed/31894239" } ] }, { "title": "SULT2B1b inhibits reverse cholesterol transport and promotes cholesterol accumulation and inflammation in lymphocytes from AMI patients with low LDL-C levels.", "journal": "Clinical science (London, England : 1979)", "date": "2020", "authors": "Zhang Y, Guo Z, Wu T, Liu J, Zhang B, Lai W, Tu W, Guo Z, Luo T", "evidence": [ { "database": "RefSeq", "id": "NP_004596", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004596" } ], "reference": [ { "type": "PubMed", "id": "31957803", "url": "https://glygen.org/publication/PubMed/31957803" } ] }, { "title": "The promoter hypermethylation of SULT2B1 accelerates esophagus tumorigenesis via downregulated PER1.", "journal": "Thoracic cancer", "date": "2021", "authors": "Li Z, Li MY, Wang LL, Li L, Chen QY, Zhu YH, Li Y, Qin YR, Guan XY", "evidence": [ { "database": "RefSeq", "id": "NP_004596", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004596" } ], "reference": [ { "type": "PubMed", "id": "34730281", "url": "https://glygen.org/publication/PubMed/34730281" } ] }, { "title": "Macrophage Sult2b1 promotes pathological neovascularization in age-related macular degeneration.", "journal": "Life science alliance", "date": "2023-11", "authors": "Wang Yafang, Liu Yang, Wang Yan, Wu Yidong, Chen Zhixuan, Wang Feng, Wan Xiaoling, Wang Fenghua, Sun Xiaodong", "evidence": [ { "database": "RefSeq", "id": "NP_004596", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004596" } ], "reference": [ { "type": "PubMed", "id": "37550000", "url": "https://glygen.org/publication/PubMed/37550000" } ] }, { "title": "Human hydroxysteroid sulfotransferase SULT2B1: two enzymes encoded by a single chromosome 19 gene.", "journal": "Genomics", "date": "1998", "authors": "Her C, Wood TC, Eichler EE, Mohrenweiser HW, Ramagli LS, Siciliano MJ, Weinshilboum RM", "evidence": [ { "database": "UniProtKB", "id": "O00204", "url": "https://www.uniprot.org/uniprot/O00204" } ], "reference": [ { "type": "PubMed", "id": "9799594", "url": "https://glygen.org/publication/PubMed/9799594" } ] } ], "pathway": [ { "id": "hsa:6820", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6820", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "O35400-1", "protein_name": "Sulfotransferase 2B1", "gene_name": "Sult2b1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MDGPQPRALWSSSEKNVSEMSWNFGGEYFRYKGIPFPVGMYSPESLSLAENTSNVRDDDIFIVTYPKSGTNWMIEIVCLILKDGDPSWIRSEPIWQRAPWCETIISAFNVLDRPSPRIMSSHLPIELFTKAFFSSKAKVIYVGRNPRDVVVSLYYYSKIAGQLKDPGTPDQFLQNFLKGEVQFGSWFDHIKGWIRMQNQENFLFITYEELQQDLRGSVQRICEFLGRPLGEEALSSVVAHSAFAAMKANTMSNYSLLPASLLDHRQGEFLRKGISGDWKNHFTVAQSEAFDSVYREQMHGVQRFPWDTSEEDSSPDGQPDPEPSPSPASDDPNPGSSQ", "length": 338 }, "evidence": [ { "id": "45918007", "url": "http://www.informatics.jax.org/homology/45918007", "database": "MGI" }, { "id": "O00204", "url": "https://omabrowser.org/oma/group/O00204/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q29YR5-1", "protein_name": "Sulfotransferase 2B1", "gene_name": "Sult2b1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MDGPQPPALWGSLENRVSELSQKLQGEYFRYKGIPFPVGMYTPESLSLAENTSNVRDDDIFIVTYPKSGTNWMIEIICLILKDGDPSWIRSEPIWQRAPWCETTISAFSLPERPSPRLMCSHLPIELFTKAAFSSKAKVIYLGRNPRDVVVSLYYYSKIAVQLKDPGTPEQFLQNFLKGEVQFGSWFDHIKGWIRMRGRENFLFITYEELQQDLRGSVQLICEFLGRPLGEEALSSVVAHSAFAAMKANNMSNYTLLPASLLDHRQGAFLRKGISGDWKNHFTVAQSETFDQVYREQMHGLPSFPWDRSAEDGSPDGETEPSPSPSPGLASDDPNPGSSQ", "length": 340 }, "evidence": [ { "id": "45918007", "url": "http://www.informatics.jax.org/homology/45918007", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 7, "go_terms": [ { "name": "sulfotransferase activity", "id": "GO:0008146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008146", "evidence": [ { "database": "UniProtKB", "id": "O00204", "url": "https://www.uniprot.org/uniprot/O00204" } ], "pmid": "" }, { "name": "steroid sulfotransferase activity", "id": "GO:0050294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050294", "evidence": [ { "database": "UniProtKB", "id": "O00204", "url": "https://www.uniprot.org/uniprot/O00204" } ], "pmid": "" }, { "name": "cholesterol binding", "id": "GO:0015485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015485", "evidence": [ { "database": "UniProtKB", "id": "O00204", "url": "https://www.uniprot.org/uniprot/O00204" } ], "pmid": "" }, { "name": "nucleic acid binding", "id": "GO:0003676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "evidence": [ { "database": "UniProtKB", "id": "O00204", "url": "https://www.uniprot.org/uniprot/O00204" } ], "pmid": "" }, { "name": "small molecule binding", "id": "GO:0036094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036094", "evidence": [ { "database": "UniProtKB", "id": "O00204", "url": "https://www.uniprot.org/uniprot/O00204" } ], "pmid": "" }, { "name": "steroid hormone binding", "id": "GO:1990239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990239", "evidence": [ { "database": "UniProtKB", "id": "O00204", "url": "https://www.uniprot.org/uniprot/O00204" } ], "pmid": "" }, { "name": "cholesterol sulfotransferase activity", "id": "GO:0051922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051922", "evidence": [ { "database": "UniProtKB", "id": "O00204", "url": "https://www.uniprot.org/uniprot/O00204" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 6, "go_terms": [ { "name": "sulfation", "id": "GO:0051923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051923", "evidence": [ { "database": "UniProtKB", "id": "O00204", "url": "https://www.uniprot.org/uniprot/O00204" } ], "pmid": "" }, { "name": "cholesterol metabolic process", "id": "GO:0008203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008203", "evidence": [ { "database": "UniProtKB", "id": "O00204", "url": "https://www.uniprot.org/uniprot/O00204" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "O00204", "url": "https://www.uniprot.org/uniprot/O00204" } ], "pmid": "" }, { "name": "3'-phosphoadenosine 5'-phosphosulfate metabolic process", "id": "GO:0050427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050427", "evidence": [ { "database": "UniProtKB", "id": "O00204", "url": "https://www.uniprot.org/uniprot/O00204" } ], "pmid": "" }, { "name": "positive regulation of epidermal cell differentiation", "id": "GO:0045606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045606", "evidence": [ { "database": "UniProtKB", "id": "O00204", "url": "https://www.uniprot.org/uniprot/O00204" } ], "pmid": "" }, { "name": "steroid metabolic process", "id": "GO:0008202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008202", "evidence": [ { "database": "UniProtKB", "id": "O00204", "url": "https://www.uniprot.org/uniprot/O00204" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 6, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O00204", "url": "https://www.uniprot.org/uniprot/O00204" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O00204", "url": "https://www.uniprot.org/uniprot/O00204" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "O00204", "url": "https://www.uniprot.org/uniprot/O00204" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O00204", "url": "https://www.uniprot.org/uniprot/O00204" } ], "pmid": "" }, { "name": "intracellular membrane-bounded organelle", "id": "GO:0043231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043231", "evidence": [ { "database": "UniProtKB", "id": "O00204", "url": "https://www.uniprot.org/uniprot/O00204" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "O00204", "url": "https://www.uniprot.org/uniprot/O00204" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 256, "end_pos": 258, "annotation": "n_glycosylation_sequon" }, { "start_pos": 336, "end_pos": 338, "annotation": "n_glycosylation_sequon" }, { "start_pos": 346, "end_pos": 348, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Phosphorylated.", "evidence": [ { "database": "UniProtKB", "id": "O00204", "url": "https://www.uniprot.org/uniprot/O00204" }, { "database": "PubMed", "id": "16855051", "url": "https://glygen.org/publication/PubMed/16855051" } ] } ], "interactions": [], "reactions": [ { "id": "22552", "name": "", "equation": "3'-phosphoadenylyl sulfate + an alcohol = adenosine 3',5'-bisphosphate + an alkyl sulfate + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q29YR5-1", "P50235-1", "P22789-1", "P15709-1", "O00204-1", "Q6IMI6-1", "Q06520-1", "O35400-1", "P52843-1", "B2RVI8-1", "P50236-1" ], "evidence": [ { "id": "22552", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/22552" } ] }, { "id": "51216", "name": "", "equation": "3'-phosphoadenylyl sulfate + 3beta-hydroxyandrost-5-en-17-one = adenosine 3',5'-bisphosphate + dehydroepiandrosterone 3-sulfate + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q29YR5-1", "P52844-1", "P15709-1", "P22789-1", "O00204-1", "P49888-1", "Q06520-1", "P49891-1", "O35400-1", "P52843-1", "B2RVI8-1" ], "evidence": [ { "id": "51216", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/51216" } ] }, { "id": "52348", "name": "", "equation": "(24S)-hydroxycholesterol + 3'-phosphoadenylyl sulfate = (24S)-hydroxycholesterol 3-sulfate + adenosine 3',5'-bisphosphate + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P52844-1", "P15709-1", "O00204-1", "P49888-1", "Q06520-1", "P49891-1", "P52843-1" ], "evidence": [ { "id": "52348", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/52348" } ] }, { "id": "52356", "name": "", "equation": "3'-phosphoadenylyl sulfate + pregnenolone = adenosine 3',5'-bisphosphate + H(+) + pregnenolone sulfate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q29YR5-1", "P15709-1", "O00204-1", "Q06520-1", "O35400-1", "P52843-1" ], "evidence": [ { "id": "52356", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/52356" } ] }, { "id": "52368", "name": "", "equation": "3'-phosphoadenylyl sulfate + cholesterol = adenosine 3',5'-bisphosphate + cholesterol sulfate + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q29YR5-1", "O00204-1", "O35400-1" ], "evidence": [ { "id": "52368", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/52368" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "B2RVI8", "gene_name": "Sult2a6", "activity": [ { "ec_number": "2.8.2.-", "activity": "", "evidence": [ { "id": "B2RVI8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B2RVI8" } ] }, { "ec_number": "2.8.2.14", "activity": "3'-phosphoadenylyl sulfate + taurolithocholate = adenosine 3',5'-bisphosphate + H(+) + taurolithocholate 3-sulfate.", "evidence": [ { "id": "B2RVI8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B2RVI8" } ] }, { "ec_number": "2.8.2.2", "activity": "3'-phosphoadenylyl sulfate + an alcohol = adenosine 3',5'-bisphosphate + an alkyl sulfate + H(+).", "evidence": [ { "id": "B2RVI8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B2RVI8" } ] }, { "ec_number": "2.8.2.2", "activity": "", "evidence": [ { "id": "B2RVI8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B2RVI8" } ] } ] }, { "uniprot_ac": "O00204", "gene_name": "SULT2B1", "activity": [ { "ec_number": "2.8.2.2", "activity": "3'-phosphoadenylyl sulfate + an alcohol = adenosine 3',5'-bisphosphate + an alkyl sulfate + H(+).", "evidence": [ { "id": "O00204", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00204" } ] }, { "ec_number": "2.8.2.2", "activity": "", "evidence": [ { "id": "O00204", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00204" } ] } ] }, { "uniprot_ac": "O35400", "gene_name": "Sult2b1", "activity": [ { "ec_number": "2.8.2.-", "activity": "", "evidence": [ { "id": "O35400", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35400" } ] }, { "ec_number": "2.8.2.2", "activity": "3'-phosphoadenylyl sulfate + an alcohol = adenosine 3',5'-bisphosphate + an alkyl sulfate + H(+).", "evidence": [ { "id": "O35400", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35400" } ] }, { "ec_number": "2.8.2.2", "activity": "", "evidence": [ { "id": "O35400", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35400" } ] } ] }, { "uniprot_ac": "P15709", "gene_name": "Sult2a1", "activity": [ { "ec_number": "2.8.2.-", "activity": "", "evidence": [ { "id": "P15709", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15709" } ] }, { "ec_number": "2.8.2.14", "activity": "3'-phosphoadenylyl sulfate + taurolithocholate = adenosine 3',5'-bisphosphate + H(+) + taurolithocholate 3-sulfate.", "evidence": [ { "id": "P15709", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15709" } ] }, { "ec_number": "2.8.2.2", "activity": "3'-phosphoadenylyl sulfate + an alcohol = adenosine 3',5'-bisphosphate + an alkyl sulfate + H(+).", "evidence": [ { "id": "P15709", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15709" } ] }, { "ec_number": "2.8.2.2", "activity": "", "evidence": [ { "id": "P15709", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15709" } ] } ] }, { "uniprot_ac": "P22789", "gene_name": "Sult2a6", "activity": [ { "ec_number": "2.8.2.14", "activity": "3'-phosphoadenylyl sulfate + taurolithocholate = adenosine 3',5'-bisphosphate + H(+) + taurolithocholate 3-sulfate.", "evidence": [ { "id": "P22789", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22789" } ] }, { "ec_number": "2.8.2.2", "activity": "3'-phosphoadenylyl sulfate + an alcohol = adenosine 3',5'-bisphosphate + an alkyl sulfate + H(+).", "evidence": [ { "id": "P22789", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22789" } ] }, { "ec_number": "2.8.2.2", "activity": "", "evidence": [ { "id": "P22789", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22789" } ] } ] }, { "uniprot_ac": "P49888", "gene_name": "SULT1E1", "activity": [ { "ec_number": "2.8.2.4", "activity": "3'-phosphoadenylyl sulfate + estrone = adenosine 3',5'-bisphosphate + estrone 3-sulfate + H(+).", "evidence": [ { "id": "P49888", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P49888" } ] }, { "ec_number": "2.8.2.4", "activity": "", "evidence": [ { "id": "P49888", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P49888" } ] } ] }, { "uniprot_ac": "P49891", "gene_name": "Sult1e1", "activity": [ { "ec_number": "2.8.2.4", "activity": "3'-phosphoadenylyl sulfate + estrone = adenosine 3',5'-bisphosphate + estrone 3-sulfate + H(+).", "evidence": [ { "id": "P49891", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P49891" } ] }, { "ec_number": "2.8.2.4", "activity": "", "evidence": [ { "id": "P49891", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P49891" } ] }, { "ec_number": "2.8.2.-", "activity": "", "evidence": [ { "id": "P49891", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P49891" } ] } ] }, { "uniprot_ac": "P50235", "gene_name": "Sult2a2", "activity": [ { "ec_number": "2.8.2.2", "activity": "3'-phosphoadenylyl sulfate + an alcohol = adenosine 3',5'-bisphosphate + an alkyl sulfate + H(+).", "evidence": [ { "id": "P50235", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50235" } ] }, { "ec_number": "2.8.2.2", "activity": "", "evidence": [ { "id": "P50235", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50235" } ] } ] }, { "uniprot_ac": "P50236", "gene_name": "Sult2a2", "activity": [ { "ec_number": "2.8.2.2", "activity": "3'-phosphoadenylyl sulfate + an alcohol = adenosine 3',5'-bisphosphate + an alkyl sulfate + H(+).", "evidence": [ { "id": "P50236", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50236" } ] }, { "ec_number": "2.8.2.2", "activity": "", "evidence": [ { "id": "P50236", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50236" } ] }, { "ec_number": "2.8.2.-", "activity": "", "evidence": [ { "id": "P50236", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50236" } ] } ] }, { "uniprot_ac": "P52843", "gene_name": "Sult2a1", "activity": [ { "ec_number": "2.8.2.14", "activity": "3'-phosphoadenylyl sulfate + taurolithocholate = adenosine 3',5'-bisphosphate + H(+) + taurolithocholate 3-sulfate.", "evidence": [ { "id": "P52843", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52843" } ] }, { "ec_number": "2.8.2.2", "activity": "3'-phosphoadenylyl sulfate + an alcohol = adenosine 3',5'-bisphosphate + an alkyl sulfate + H(+).", "evidence": [ { "id": "P52843", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52843" } ] }, { "ec_number": "2.8.2.2", "activity": "", "evidence": [ { "id": "P52843", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52843" } ] } ] }, { "uniprot_ac": "P52844", "gene_name": "Sult1e1", "activity": [ { "ec_number": "2.8.2.-", "activity": "", "evidence": [ { "id": "P52844", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52844" } ] }, { "ec_number": "2.8.2.4", "activity": "3'-phosphoadenylyl sulfate + estrone = adenosine 3',5'-bisphosphate + estrone 3-sulfate + H(+).", "evidence": [ { "id": "P52844", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52844" } ] }, { "ec_number": "2.8.2.4", "activity": "", "evidence": [ { "id": "P52844", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52844" } ] } ] }, { "uniprot_ac": "Q06520", "gene_name": "SULT2A1", "activity": [ { "ec_number": "2.8.2.14", "activity": "3'-phosphoadenylyl sulfate + taurolithocholate = adenosine 3',5'-bisphosphate + H(+) + taurolithocholate 3-sulfate.", "evidence": [ { "id": "Q06520", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q06520" } ] }, { "ec_number": "2.8.2.2", "activity": "3'-phosphoadenylyl sulfate + an alcohol = adenosine 3',5'-bisphosphate + an alkyl sulfate + H(+).", "evidence": [ { "id": "Q06520", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q06520" } ] }, { "ec_number": "2.8.2.2", "activity": "", "evidence": [ { "id": "Q06520", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q06520" } ] } ] }, { "uniprot_ac": "Q29YR5", "gene_name": "Sult2b1", "activity": [ { "ec_number": "2.8.2.-", "activity": "", "evidence": [ { "id": "Q29YR5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q29YR5" } ] }, { "ec_number": "2.8.2.2", "activity": "3'-phosphoadenylyl sulfate + an alcohol = adenosine 3',5'-bisphosphate + an alkyl sulfate + H(+).", "evidence": [ { "id": "Q29YR5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q29YR5" } ] }, { "ec_number": "2.8.2.2", "activity": "", "evidence": [ { "id": "Q29YR5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q29YR5" } ] } ] }, { "uniprot_ac": "Q6IMI6", "gene_name": "SULT1C3", "activity": [ { "ec_number": "2.8.2.1", "activity": "3'-phosphoadenylyl sulfate + a phenol = adenosine 3',5'-bisphosphate + an aryl sulfate + H(+).", "evidence": [ { "id": "Q6IMI6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6IMI6" } ] }, { "ec_number": "2.8.2.2", "activity": "3'-phosphoadenylyl sulfate + an alcohol = adenosine 3',5'-bisphosphate + an alkyl sulfate + H(+).", "evidence": [ { "id": "Q6IMI6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6IMI6" } ] }, { "ec_number": "2.8.2.2", "activity": "", "evidence": [ { "id": "Q6IMI6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6IMI6" } ] }, { "ec_number": "2.8.2.1", "activity": "", "evidence": [ { "id": "Q6IMI6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6IMI6" } ] } ] } ], "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": [ 132, 348 ], "sequon_annotation_sites": [ { "start_pos": 256, "end_pos": 258 }, { "start_pos": 336, "end_pos": 338 }, { "start_pos": 346, "end_pos": 348 } ] }, "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": 2 } ], "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": 12 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }