{ "uniprot_canonical_ac": "O15528-1", "uniprot_ac": "O15528", "uniprot_id": "CP27B_HUMAN", "mass": { "chemical_mass": 56504.0, "monoisotopic_mass": 56504.0 }, "refseq": { "ac": "NP_000776", "name": "25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial", "summary": "This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The protein encoded by this gene localizes to the inner mitochondrial membrane where it hydroxylates 25-hydroxyvitamin D3 at the 1alpha position. This reaction synthesizes 1alpha,25-dihydroxyvitamin D3, the active form of vitamin D3, which binds to the vitamin D receptor and regulates calcium metabolism. Thus this enzyme regulates the level of biologically active vitamin D and plays an important role in calcium homeostasis. Mutations in this gene can result in vitamin D-dependent rickets type I. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000776" }, "gene_names": [ { "name": "CYP27B1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15528", "id": "O15528" }, { "name": "CP2B; CYP1; CYP1alpha; CYP27B; P450c1; PDDR; VDD1; VDDR; VDDRI; VDR", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000776", "id": "NP_000776" }, { "name": "CYP1ALPHA", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15528", "id": "O15528" }, { "name": "CYP27B1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000776", "id": "NP_000776" }, { "name": "CYP27B", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15528", "id": "O15528" } ], "protein_names": [ { "name": "25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15528" }, { "name": "1.14.15.18", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15528" }, { "name": "25-OHD-1 alpha-hydroxylase; VD3 1A hydroxylase; 1alpha(OH)ase; 25 hydroxyvitamin D3-1-alpha hydroxylase; calcidiol 1-monooxygenase; cytochrome p450 27B1; cytochrome P450C1 alpha; cytochrome P450VD1-alpha; cytochrome P450 subfamily XXVIIB polypeptide 1; cytochrome P450, family 27, subfamily B, polypeptide 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000776", "id": "NP_000776" }, { "name": "25-OHD-1 alpha-hydroxylase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15528" }, { "name": "25-hydroxyvitamin D(3) 1-alpha-hydroxylase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15528" }, { "name": "25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000776", "id": "NP_000776" }, { "name": "Calcidiol 1-monooxygenase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15528" }, { "name": "Cytochrome P450 subfamily XXVIIB polypeptide 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15528" }, { "name": "Cytochrome P450C1 alpha", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15528" }, { "name": "Cytochrome P450VD1-alpha", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15528" }, { "name": "Cytochrome p450 27B1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15528" }, { "name": "VD3 1A hydroxylase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15528" } ], "function": [ { "annotation": "A cytochrome P450 monooxygenase involved in vitamin D metabolism and in calcium and phosphorus homeostasis. Catalyzes the rate-limiting step in the activation of vitamin D in the kidney, namely the hydroxylation of 25-hydroxyvitamin D3/calcidiol at the C1alpha-position to form the hormonally active form of vitamin D3, 1alpha,25-dihydroxyvitamin D3/calcitriol that acts via the vitamin D receptor (VDR) (PubMed:10518789, PubMed:9486994, PubMed:22862690, PubMed:10566658, PubMed:12050193). Has 1alpha-hydroxylase activity on vitamin D intermediates of the CYP24A1-mediated inactivation pathway (PubMed:10518789, PubMed:22862690). Converts 24R,25-dihydroxyvitamin D3/secalciferol to 1-alpha,24,25-trihydroxyvitamin D3, an active ligand of VDR. Also active on 25-hydroxyvitamin D2 (PubMed:10518789). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via FDXR/adrenodoxin reductase and FDX1/adrenodoxin (PubMed:22862690).", "evidence": [ { "database": "UniProtKB", "id": "O15528", "url": "https://www.uniprot.org/uniprot/O15528#function" }, { "database": "PubMed", "id": "12050193", "url": "https://glygen.org/publication/PubMed/12050193" }, { "database": "PubMed", "id": "10566658", "url": "https://glygen.org/publication/PubMed/10566658" }, { "database": "PubMed", "id": "10518789", "url": "https://glygen.org/publication/PubMed/10518789" }, { "database": "PubMed", "id": "9486994", "url": "https://glygen.org/publication/PubMed/9486994" }, { "database": "PubMed", "id": "22862690", "url": "https://glygen.org/publication/PubMed/22862690" } ] }, { "annotation": "Clinical spectrum and diagnostic challenges of vitamin D dependent rickets type 1A (VDDR1A) caused by CYP27B1 mutation in resource limited countries. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000776", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000776" }, { "database": "PubMed", "id": "36524979", "url": "https://glygen.org/publication/PubMed/36524979" } ] }, { "annotation": "Genotype-phenotype Description of Vitamin D-dependent Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder Disease.", "evidence": [ { "database": "RefSeq", "id": "NP_000776", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000776" }, { "database": "PubMed", "id": "36321535", "url": "https://glygen.org/publication/PubMed/36321535" } ] }, { "annotation": "Local production of active vitamin D3 metabolites in breast cancer cells by CYP24A1 and CYP27B1.", "evidence": [ { "database": "RefSeq", "id": "NP_000776", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000776" }, { "database": "PubMed", "id": "37244301", "url": "https://glygen.org/publication/PubMed/37244301" } ] }, { "annotation": "Responsible enzymes for metabolizing vitamin D in patients with acute leukemia and the relationship with treatment outcomes: a case-control study.", "evidence": [ { "database": "RefSeq", "id": "NP_000776", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000776" }, { "database": "PubMed", "id": "35508323", "url": "https://glygen.org/publication/PubMed/35508323" } ] }, { "annotation": "The role of vitamin D-synthesizing enzyme CYP27B1 in systemic lupus erythematosus.", "evidence": [ { "database": "RefSeq", "id": "NP_000776", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000776" }, { "database": "PubMed", "id": "36326421", "url": "https://glygen.org/publication/PubMed/36326421" } ] }, { "annotation": "This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The protein encoded by this gene localizes to the inner mitochondrial membrane where it hydroxylates 25-hydroxyvitamin D3 at the 1alpha position. This reaction synthesizes 1alpha,25-dihydroxyvitamin D3, the active form of vitamin D3, which binds to the vitamin D receptor and regulates calcium metabolism. Thus this enzyme regulates the level of biologically active vitamin D and plays an important role in calcium homeostasis. Mutations in this gene can result in vitamin D-dependent rickets type I. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000776", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000776" } ] } ], "disease": [ { "disease_id": "DOID:0080886", "recommended_name": { "id": "DOID:0080886", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080886", "name": "vitamin D-dependent rickets type 1A", "description": "A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in mutation in the gene encoding 25-hydroxyvitamin D3-1-alpha-hydroxylase (CYP27B1) on chromosome 12q13." }, "synonyms": [ { "id": "MONDO:0020723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020723", "name": "vitamin D-dependent rickets, type 1A", "description": "" }, { "id": "MONDO:0020723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020723", "name": "vitamin D-dependent rickets, type 1A", "description": "" }, { "id": "MONDO:0020723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020723", "name": "vitamin D-dependent rickets, type I", "description": "" }, { "id": "MONDO:0020723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020723", "name": "1-Alpha, 25-Hydroxyvitamin D3 deficiency, selective", "description": "" }, { "id": "MONDO:0020723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020723", "name": "1-Alpha-Hydroxylase deficiency", "description": "" }, { "id": "MONDO:0020723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020723", "name": "25-hydroxycholecalciferol-1-Hydroxylase deficiency", "description": "" }, { "id": "MONDO:0020723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020723", "name": "PDDR 1A", "description": "" }, { "id": "MONDO:0020723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020723", "name": "VDDR1A", "description": "" }, { "id": "MONDO:0020723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020723", "name": "pseudovitamin D-deficiency rickets, type 1A", "description": "" }, { "id": "MONDO:0020723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020723", "name": "vitamin D dependency, type 1", "description": "" }, { "id": "MONDO:0020723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020723", "name": "vitamin D hydroxylation-deficient rickets, type 1A", "description": "" }, { "id": "MIM:264700", "resource": "MIM", "url": "https://www.omim.org/entry/264700", "name": "Rickets vitamin D-dependent 1A", "description": "Rickets vitamin D-dependent 1A" } ], "evidence": [ { "id": "264700", "database": "MIM", "url": "https://www.omim.org/entry/264700" } ] } ], "snv": [ { "evidence": [ { "id": "O15528", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15528" } ], "glycoeffect": [], "start_pos": 338, "end_pos": 338, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4).", "chr_id": "12", "chr_pos": "57764502", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E338", "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" } ] }, { "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" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] }, { "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "88.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111012", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111012" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "41.27", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000111012", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111012" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "55.81", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111012", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111012" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000111012", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111012" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "58.22", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111012", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111012" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "64.82", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111012", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111012" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000111012", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111012" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "52.5", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111012", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111012" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "73.53", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111012", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111012" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000111012", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111012" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "59.15", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111012", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111012" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "64.21", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111012", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111012" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "60.83", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111012", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111012" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O15528", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15528" } ], "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": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O15528", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15528" } ], "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": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O15528", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15528" } ], "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": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O15528", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15528" } ], "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": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O15528", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15528" } ], "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": "O15528", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15528" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O15528", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15528" } ], "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": "O15528", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15528" } ], "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": "O15528", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15528" } ], "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": "O15528", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15528" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O15528", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15528" } ], "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": "O15528", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15528" } ], "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": "O15528", "url": "https://www.uniprot.org/uniprot/O15528" } ], "common_name": "Human" } ], "gene": [ { "name": "CYP27B1", "url": "https://www.uniprot.org/uniprot/O15528", "locus": { "chromosome": "12", "start_pos": 57762334, "end_pos": 57768986, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000111012", "url": "https://www.ensembl.org/id/ENSG00000111012" } ] } } ], "crossref": [ { "id": "ENSG00000111012", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111012", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O15528", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15528", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "1.14.15.18", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=1.14.15.18&UniProtAcc=O15528", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "cd20648", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd20648", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL5993", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL5993", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "CYP27B1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP27B1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "1594", "url": "https://www.ncbi.nlm.nih.gov/gene/1594", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "2606", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2606", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O15528", "url": "https://www.ebi.ac.uk/intact/interactors/id:O15528*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001128", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001128", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR002401", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002401", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017972", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017972", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036396", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036396", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:1594", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1594", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "264700", "url": "http://www.omim.org/entry/264700", "database": "MIM", "categories": [ "Other" ] }, { "id": "609506", "url": "http://www.omim.org/entry/609506", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O15528", "url": "https://www.nextprot.org/entry/NX_O15528", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "WDLFARG", "url": "https://omabrowser.org/oma/group/WDLFARG/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2658719at2759", "url": "http://www.orthodb.org/?query=2658719at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR24279:SF118", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24279:SF118", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00067", "url": "http://pfam.xfam.org/family/PF00067", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O15528", "url": "https://pharos.nih.gov/targets/O15528", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O15528", "url": "http://purl.obolibrary.org/obo/PR_O15528", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-211916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211916", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5579014", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5579014", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000776", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000776", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "20573", "url": "https://www.rhea-db.org/rhea/20573", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "49048", "url": "https://www.rhea-db.org/rhea/49048", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "49064", "url": "https://www.rhea-db.org/rhea/49064", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "49068", "url": "https://www.rhea-db.org/rhea/49068", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "F8VWR7", "url": "https://www.uniprot.org/uniprot/F8VWR7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8VWR7-1", "url": "https://www.uniprot.org/uniprot/F8VWR7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15528", "url": "https://www.uniprot.org/uniprot/O15528", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15528-1", "url": "https://www.uniprot.org/uniprot/O15528-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "V9GYP0", "url": "https://www.uniprot.org/uniprot/V9GYP0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "V9GYP0-1", "url": "https://www.uniprot.org/uniprot/V9GYP0-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MTQTLKYASRVFHRVRWAPELGASLGYREYHSARRSLADIPGPSTPSFLAELFCKGGLSRLHELQVQGAAHFGPVWLASFGTVRTVYVAAPALVEELLRQEGPRPERCSFSPWTEHRRCRQRACGLLTAEGEEWQRLRSLLAPLLLRPQAAARYAGTLNNVVCDLVRRLRRQRGRGTGPPALVRDVAGEFYKFGLEGIAAVLLGSRLGCLEAQVPPDTETFIRAVGSVFVSTLLTMAMPHWLRHLVPGPWGRLCRDWDQMFAFAQRHVERREAEAAMRNGGQPEKDLESGAHLTHFLFREELPAQSILGNVTELLLAGVDTVSNTLSWALYELSRHPEVQTALHSEITAALSPGSSAYPSATVLSQLPLLKAVVKEVLRLYPVVPGNSRVPDKDIHVGDYIIPKNTLVTLCHYATSRDPAQFPEPNSFRPARWLGEGPTPHPFASLPFGFGKRSCMGRRLAELELQMALAQILTHFEVQPEPGAAPVRPKTRTVLVPERSINLQFLDR", "length": 508, "header": "sp|O15528-1|CP27B_HUMAN Isoform 1 of 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial OS=Homo sapiens OX=9606 GN=CYP27B1 PE=1 SV=1 CANONICAL=O15528-1" }, "isoforms": [ { "isoform_ac": "F8VWR7-1", "url": "", "sequence": { "sequence": "MRTLSSTLQGRRRMAKAPQSPGPAPPPASSGRPLRRNPEQRSLRPCAASEAPAGTWHGAARPGSGRGGGILQVRTGRHRRGSARLALGLPGGSSATRHGDLHPRCGLGVCVHAVDHGDAPLAAPPCAWALGPPLPRLGPDVCICSEARGAARGRGSHEERRTAREGPGVWGAPDPLPVPGRVACPVHPGKCDRVAIGGSGHGVQHALLGSV", "length": 211, "header": "tr|F8VWR7-1|F8VWR7_HUMAN Computationally mapped isoform of Cytochrome P450 family 27 subfamily B member 1 OS=Homo sapiens OX=9606 GN=CYP27B1 PE=4 SV=2 CANONICAL=O15528-1" }, "locus": { "chromosome": "12", "start_pos": 57765526, "end_pos": 57764522, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000546567.5", "url": "https://www.ensembl.org/id/ENST00000546567.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000449472.2", "url": "https://www.ensembl.org/id/ENSP00000449472.2" } ] } }, { "isoform_ac": "O15528-1", "url": "", "sequence": { "sequence": "MTQTLKYASRVFHRVRWAPELGASLGYREYHSARRSLADIPGPSTPSFLAELFCKGGLSRLHELQVQGAAHFGPVWLASFGTVRTVYVAAPALVEELLRQEGPRPERCSFSPWTEHRRCRQRACGLLTAEGEEWQRLRSLLAPLLLRPQAAARYAGTLNNVVCDLVRRLRRQRGRGTGPPALVRDVAGEFYKFGLEGIAAVLLGSRLGCLEAQVPPDTETFIRAVGSVFVSTLLTMAMPHWLRHLVPGPWGRLCRDWDQMFAFAQRHVERREAEAAMRNGGQPEKDLESGAHLTHFLFREELPAQSILGNVTELLLAGVDTVSNTLSWALYELSRHPEVQTALHSEITAALSPGSSAYPSATVLSQLPLLKAVVKEVLRLYPVVPGNSRVPDKDIHVGDYIIPKNTLVTLCHYATSRDPAQFPEPNSFRPARWLGEGPTPHPFASLPFGFGKRSCMGRRLAELELQMALAQILTHFEVQPEPGAAPVRPKTRTVLVPERSINLQFLDR", "length": 508, "header": "sp|O15528-1|CP27B_HUMAN Isoform 1 of 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial OS=Homo sapiens OX=9606 GN=CYP27B1 PE=1 SV=1 CANONICAL=O15528-1" }, "locus": { "chromosome": "12", "start_pos": 57767041, "end_pos": 57763145, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000228606.9", "url": "https://www.ensembl.org/id/ENST00000228606.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000228606.4", "url": "https://www.ensembl.org/id/ENSP00000228606.4" } ] } }, { "isoform_ac": "V9GYP0-1", "url": "", "sequence": { "sequence": "XTLAGPRLPGIREKSRSPGSSQLRLLELRHSTLLKKVQGAAHFGPVWLASFGTVRTVYVAAPALVEELLRQEGPRPERCSFSPWTEHRRCRQRACGLLTAEGEEWQRLRSLLAPLLLRPQAAARYAGTLNNVVCDLVRRLRRQRGRGTGPPALVRDVAGEFYKFGLEGIAAVLLGSRLGCLEAQVPPDTETFIRAVGSVFVSTLLTMAMPHWLRHLVPGPWGRLCRDWDQMFAF", "length": 234, "header": "tr|V9GYP0-1|V9GYP0_HUMAN Computationally mapped isoform of Cytochrome P450 family 27 subfamily B member 1 OS=Homo sapiens OX=9606 GN=CYP27B1 PE=1 SV=1 CANONICAL=O15528-1" }, "locus": { "chromosome": "12", "start_pos": 57768986, "end_pos": 57765011, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000546609.1", "url": "https://www.ensembl.org/id/ENST00000546609.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000476959.1", "url": "https://www.ensembl.org/id/ENSP00000476959.1" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "An endocytic pathway essential for renal uptake and activation of the steroid 25-(OH) vitamin D3.", "journal": "Cell", "date": "1999", "authors": "Nykjaer A, Dragun D, Walther D, Vorum H, Jacobsen C, Herz J, Melsen F, Christensen EI, Willnow TE", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "10052453", "url": "https://glygen.org/publication/PubMed/10052453" } ] }, { "title": "Novel mutations in the 1alpha-hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets resulting in loss of functional enzyme activity in blood-derived macrophages.", "journal": "Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research", "date": "1999", "authors": "Smith SJ, Rucka AK, Berry JL, Davies M, Mylchreest S, Paterson CR, Heath DA, Tassabehji M, Read AP, Mee AP, Mawer EB", "evidence": [ { "database": "UniProtKB", "id": "O15528", "url": "https://www.uniprot.org/uniprot/O15528" } ], "reference": [ { "type": "PubMed", "id": "10320521", "url": "https://glygen.org/publication/PubMed/10320521" } ] }, { "title": "Enzymatic properties of human 25-hydroxyvitamin D3 1alpha-hydroxylase coexpression with adrenodoxin and NADPH-adrenodoxin reductase in Escherichia coli.", "journal": "European journal of biochemistry", "date": "1999", "authors": "Sawada N, Sakaki T, Kitanaka S, Takeyama K, Kato S, Inouye K", "evidence": [ { "database": "UniProtKB", "id": "O15528", "url": "https://www.uniprot.org/uniprot/O15528" }, { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "10518789", "url": "https://glygen.org/publication/PubMed/10518789" } ] }, { "title": "No enzyme activity of 25-hydroxyvitamin D3 1alpha-hydroxylase gene product in pseudovitamin D deficiency rickets, including that with mild clinical manifestation.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1999", "authors": "Kitanaka S, Murayama A, Sakaki T, Inouye K, Seino Y, Fukumoto S, Shima M, Yukizane S, Takayanagi M, Niimi H, Takeyama K, Kato S", "evidence": [ { "database": "UniProtKB", "id": "O15528", "url": "https://www.uniprot.org/uniprot/O15528" } ], "reference": [ { "type": "PubMed", "id": "10566658", "url": "https://glygen.org/publication/PubMed/10566658" } ] }, { "title": "Identification of the human cytochrome P450, P450RAI-2, which is predominantly expressed in the adult cerebellum and is responsible for all-trans-retinoic acid metabolism.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "White JA, Ramshaw H, Taimi M, Stangle W, Zhang A, Everingham S, Creighton S, Tam SP, Jones G, Petkovich M", "evidence": [ { "database": "Reactome", "id": "R-HSA-211916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211916" } ], "reference": [ { "type": "PubMed", "id": "10823918", "url": "https://glygen.org/publication/PubMed/10823918" } ] }, { "title": "Dual metabolic pathway of 25-hydroxyvitamin D3 catalyzed by human CYP24.", "journal": "European journal of biochemistry", "date": "2000", "authors": "Sakaki T, Sawada N, Komai K, Shiozawa S, Yamada S, Yamamoto K, Ohyama Y, Inouye K", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "11012668", "url": "https://glygen.org/publication/PubMed/11012668" } ] }, { "title": "Activation of human prolegumain by cleavage at a C-terminal asparagine residue.", "journal": "The Biochemical journal", "date": "2000", "authors": "Chen JM, Fortunato M, Barrett AJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "11085925", "url": "https://glygen.org/publication/PubMed/11085925" } ] }, { "title": "Double-blind, placebo-controlled, randomized, right-left study comparing calcipotriol monotherapy with a combined treatment of calcipotriol and diflucortolone valerate in chronic plaque psoriasis.", "journal": "Acta dermato-venereologica. Supplementum", "date": "2000", "authors": "Salmhofer W, Maier H, Soyer HP, Honigsmann H, Hodl S", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "11234559", "url": "https://glygen.org/publication/PubMed/11234559" } ] }, { "title": "Cubilin dysfunction causes abnormal metabolism of the steroid hormone 25(OH) vitamin D(3).", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Nykjaer A, Fyfe JC, Kozyraki R, Leheste JR, Jacobsen C, Nielsen MS, Verroust PJ, Aminoff M, de la Chapelle A, Moestrup SK, Ray R, Gliemann J, Willnow TE, Christensen EI", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "11717447", "url": "https://glygen.org/publication/PubMed/11717447" } ] }, { "title": "A structural basis for the unique binding features of the human vitamin D-binding protein.", "journal": "Nature structural biology", "date": "2002", "authors": "Verboven C, Rabijns A, De Maeyer M, Van Baelen H, Bouillon R, De Ranter C", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "11799400", "url": "https://glygen.org/publication/PubMed/11799400" } ] }, { "title": "Synthesis of 1,25-dihydroxyvitamin D(3) by human endothelial cells is regulated by inflammatory cytokines: a novel autocrine determinant of vascular cell adhesion.", "journal": "Journal of the American Society of Nephrology : JASN", "date": "2002", "authors": "Zehnder D, Bland R, Chana RS, Wheeler DC, Howie AJ, Williams MC, Stewart PM, Hewison M", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "11856765", "url": "https://glygen.org/publication/PubMed/11856765" } ] }, { "title": "Novel gene mutations in patients with 1alpha-hydroxylase deficiency that confer partial enzyme activity in vitro.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2002", "authors": "Wang X, Zhang MY, Miller WL, Portale AA", "evidence": [ { "database": "UniProtKB", "id": "O15528", "url": "https://www.uniprot.org/uniprot/O15528" } ], "reference": [ { "type": "PubMed", "id": "12050193", "url": "https://glygen.org/publication/PubMed/12050193" } ] }, { "title": "Oral doxercalciferol therapy for secondary hyperparathyroidism in a peritoneal dialysis patient.", "journal": "Clinical nephrology", "date": "2002", "authors": "Sprague SM, Ho LT", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "12227689", "url": "https://glygen.org/publication/PubMed/12227689" } ] }, { "title": "Targeted disruption of the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in ras-transformed keratinocytes demonstrates that locally produced 1alpha,25-dihydroxyvitamin D3 suppresses growth and induces differentiation in an autocrine fashion.", "journal": "Mol. Cancer Res.", "date": "2002", "authors": "Huang Dao Chao, Papavasiliou Vasilios, Rhim Johng S, Horst Ronald L, Kremer Richard", "evidence": [ { "database": "UniProtKB", "id": "O15528", "url": "https://www.uniprot.org/uniprot/O15528" } ], "reference": [ { "type": "PubMed", "id": "12496369", "url": "https://glygen.org/publication/PubMed/12496369" } ] }, { "title": "Regulation of 25-hydroxyvitamin D3-1 alpha-hydroxylase and production of 1 alpha,25-dihydroxyvitamin D3 by human dendritic cells.", "journal": "Blood", "date": "2003", "authors": "Fritsche J, Mondal K, Ehrnsperger A, Andreesen R, Kreutz M", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "12855575", "url": "https://glygen.org/publication/PubMed/12855575" } ] }, { "title": "De-orphanization of cytochrome P450 2R1: a microsomal vitamin D 25-hydroxilase.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Cheng JB, Motola DL, Mangelsdorf DJ, Russell DW", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "12867411", "url": "https://glygen.org/publication/PubMed/12867411" } ] }, { "title": "A novel human cytochrome P450, CYP26C1, involved in metabolism of 9-cis and all-trans isomers of retinoic acid.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Taimi M, Helvig C, Wisniewski J, Ramshaw H, White J, Amad M, Korczak B, Petkovich M", "evidence": [ { "database": "Reactome", "id": "R-HSA-211916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211916" } ], "reference": [ { "type": "PubMed", "id": "14532297", "url": "https://glygen.org/publication/PubMed/14532297" } ] }, { "title": "Metabolism of vitamin D by human microsomal CYP2R1.", "journal": "Biochemical and biophysical research communications", "date": "2004", "authors": "Shinkyo R, Sakaki T, Kamakura M, Ohta M, Inouye K", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "15465040", "url": "https://glygen.org/publication/PubMed/15465040" } ] }, { "title": "1,25-Dihydroxyvitamin D3 stimulates cyclic vitamin D receptor/retinoid X receptor DNA-binding, co-activator recruitment, and histone acetylation in intact osteoblasts.", "journal": "Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research", "date": "2005", "authors": "Kim S, Shevde NK, Pike JW", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "15647825", "url": "https://glygen.org/publication/PubMed/15647825" } ] }, { "title": "Superagonistic action of 14-epi-analogs of 1,25-dihydroxyvitamin D explained by vitamin D receptor-coactivator interaction.", "journal": "Molecular pharmacology", "date": "2005", "authors": "Eelen G, Verlinden L, Rochel N, Claessens F, De Clercq P, Vandewalle M, Tocchini-Valentini G, Moras D, Bouillon R, Verstuyf A", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "15728261", "url": "https://glygen.org/publication/PubMed/15728261" } ] }, { "title": "Single A326G mutation converts human CYP24A1 from 25-OH-D3-24-hydroxylase into -23-hydroxylase, generating 1alpha,25-(OH)2D3-26,23-lactone.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Prosser DE, Kaufmann M, O'Leary B, Byford V, Jones G", "evidence": [ { "database": "Reactome", "id": "R-HSA-211916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211916" } ], "reference": [ { "type": "PubMed", "id": "17646648", "url": "https://glygen.org/publication/PubMed/17646648" } ] }, { "title": "Comparison of oral falecalcitriol and intravenous calcitriol in hemodialysis patients with secondary hyperparathyroidism: a randomized, crossover trial.", "journal": "Clinical nephrology", "date": "2009", "authors": "Ito H, Ogata H, Yamamoto M, Takahashi K, Shishido K, Takahashi J, Taguchi S, Kinugasa E", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "19473635", "url": "https://glygen.org/publication/PubMed/19473635" } ] }, { "title": "Vitamin D dependent rickets type I.", "journal": "Korean journal of pediatrics", "date": "2011", "authors": "Kim CJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5579014", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5579014" } ], "reference": [ { "type": "PubMed", "id": "21503197", "url": "https://glygen.org/publication/PubMed/21503197" } ] }, { "title": "Role of megalin and cubilin in the metabolism of vitamin D(3).", "journal": "Therapeutic apheresis and dialysis : official peer-reviewed journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy", "date": "2011", "authors": "Kaseda R, Hosojima M, Sato H, Saito A", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "21595846", "url": "https://glygen.org/publication/PubMed/21595846" } ] }, { "title": "Vitamin D and immune function: an overview.", "journal": "The Proceedings of the Nutrition Society", "date": "2012", "authors": "Hewison M", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "21849106", "url": "https://glygen.org/publication/PubMed/21849106" } ] }, { "title": "PIAS4 represses vitamin D receptor-mediated signaling and acts as an E3-SUMO ligase towards vitamin D receptor.", "journal": "The Journal of steroid biochemistry and molecular biology", "date": "2012", "authors": "Jena S, Lee WP, Doherty D, Thompson PD", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "22564762", "url": "https://glygen.org/publication/PubMed/22564762" } ] }, { "title": "Expression of human CYP27B1 in Escherichia coli and characterization in phospholipid vesicles.", "journal": "The FEBS journal", "date": "2012-10", "authors": "Tang Edith K Y, Tieu Elaine W, Tuckey Robert C", "evidence": [ { "database": "UniProtKB", "id": "O15528", "url": "https://www.uniprot.org/uniprot/O15528" } ], "reference": [ { "type": "PubMed", "id": "22862690", "url": "https://glygen.org/publication/PubMed/22862690" } ] }, { "title": "Extraskeletal effects of vitamin D.", "journal": "Endocrinology and metabolism clinics of North America", "date": "2012", "authors": "Wolden-Kirk H, Gysemans C, Verstuyf A, Mathieu C", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "22877430", "url": "https://glygen.org/publication/PubMed/22877430" } ] }, { "title": "Successful treatment of alopecia areata with topical calcipotriol.", "journal": "Annals of dermatology", "date": "2012", "authors": "Kim DH, Lee JW, Kim IS, Choi SY, Lim YY, Kim HM, Kim BJ, Kim MN", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "22879719", "url": "https://glygen.org/publication/PubMed/22879719" } ] }, { "title": "Osteoporosis treatment by a new active vitamin D3 compound, eldecalcitol, in Japan.", "journal": "Current osteoporosis reports", "date": "2012", "authors": "Matsumoto T", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "22918710", "url": "https://glygen.org/publication/PubMed/22918710" } ] }, { "title": "Vitamin D and immune function.", "journal": "Nutrients", "date": "2013", "authors": "Prietl B, Treiber G, Pieber TR, Amrein K", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "23857223", "url": "https://glygen.org/publication/PubMed/23857223" } ] }, { "title": "Eldecalcitol for the treatment of osteoporosis.", "journal": "Clinical interventions in aging", "date": "2013", "authors": "Noguchi Y, Kawate H, Nomura M, Takayanagi R", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "24101867", "url": "https://glygen.org/publication/PubMed/24101867" } ] }, { "title": "Active vitamin D analogs, maxacalcitol and alfacalcidol, as maintenance therapy for mild secondary hyperparathyroidism in hemodialysis patients - a randomized study.", "journal": "International journal of clinical pharmacology and therapeutics", "date": "2014", "authors": "Honda H, Koiwa F, Ogata H, Shishido K, Sekiguchi T, Michihata T, Ogawa H, Mukai M, Takahashi K, Suzuki R, Kino K, Kato K, Yamamoto K, Kinugasa E, Akizawa T", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "24569127", "url": "https://glygen.org/publication/PubMed/24569127" } ] }, { "title": "Comparison of paricalcitol with maxacalcitol injection in Japanese hemodialysis patients with secondary hyperparathyroidism.", "journal": "Therapeutic apheresis and dialysis : official peer-reviewed journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy", "date": "2015", "authors": "Akizawa T, Akiba T, Hirakata H, Kinugasa E, Tominaga Y, Fukagawa M, Yokoyama K, Zhang W, Linde PG, Suzuki M", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "25363733", "url": "https://glygen.org/publication/PubMed/25363733" } ] }, { "title": "Proactive treatment with calcipotriol reduces recurrence of plaque psoriasis.", "journal": "The Journal of dermatology", "date": "2016", "authors": "Ito K, Koga M, Shibayama Y, Tatematsu S, Nakayama J, Imafuku S", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "26434738", "url": "https://glygen.org/publication/PubMed/26434738" } ] }, { "title": "Comparison between paricalcitol and active non-selective vitamin D receptor activator for secondary hyperparathyroidism in chronic kidney disease: a systematic review and meta-analysis of randomized controlled trials.", "journal": "International urology and nephrology", "date": "2016", "authors": "Cai P, Tang X, Qin W, Ji L, Li Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "26748501", "url": "https://glygen.org/publication/PubMed/26748501" } ] }, { "title": "Comparison of Two ELISA Methods and Mass Spectrometry for Measurement of Vitamin D-Binding Protein: Implications for the Assessment of Bioavailable Vitamin D Concentrations Across Genotypes.", "journal": "Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research", "date": "2016", "authors": "Denburg MR, Hoofnagle AN, Sayed S, Gupta J, de Boer IH, Appel LJ, Durazo-Arvizu R, Whitehead K, Feldman HI, Leonard MB", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "27250744", "url": "https://glygen.org/publication/PubMed/27250744" } ] }, { "title": "The role of vitamin D and VDR in carcinogenesis: Through epidemiology and basic sciences.", "journal": "The Journal of steroid biochemistry and molecular biology", "date": "2017", "authors": "Bandera Merchan B, Morcillo S, Martin-Nunez G, Tinahones FJ, Macias-Gonzalez M", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "27913313", "url": "https://glygen.org/publication/PubMed/27913313" } ] }, { "title": "Research on kidney and mineral metabolism in Japan: past, present, and future.", "journal": "Clinical and experimental nephrology", "date": "2017", "authors": "Mizobuchi M, Ogata H, Koiwa F, Kinugasa E, Akizawa T", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "28005175", "url": "https://glygen.org/publication/PubMed/28005175" } ] }, { "title": "Pathogenic roles of alterations in vitamin D and vitamin D receptor in gastric tumorigenesis.", "journal": "Oncotarget", "date": "2017", "authors": "Du C, Yang S, Zhao X, Dong H", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "28206978", "url": "https://glygen.org/publication/PubMed/28206978" } ] }, { "title": "Comparative efficacy and safety of paricalcitol versus vitamin D receptor activators for dialysis patients with secondary hyperparathyroidism: a meta-analysis of randomized controlled trials.", "journal": "BMC nephrology", "date": "2017", "authors": "Xie Y, Su P, Sun Y, Zhang H, Zhao R, Li L, Meng L", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "28841848", "url": "https://glygen.org/publication/PubMed/28841848" } ] }, { "title": "Responsible enzymes for metabolizing vitamin D in patients with acute leukemia and the relationship with treatment outcomes: a case-control study.", "journal": "Leukemia & lymphoma", "date": "2022", "authors": "Asoubar S, Esfahani A, Vahedi A, Mohammadi SM, Zarezadeh M, Hamedi-Kalajahi F, Ghoreishi Z, Roshanravan N", "evidence": [ { "database": "RefSeq", "id": "NP_000776", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000776" } ], "reference": [ { "type": "PubMed", "id": "35508323", "url": "https://glygen.org/publication/PubMed/35508323" } ] }, { "title": "Genotype-phenotype Description of Vitamin D-dependent Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder Disease.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2023", "authors": "Meaux MN, Harambat J, Rothenbuhler A, Leger J, Kamenicky P, Soskin S, Boyer O, Boros E, D'Anella P, Mignot B, Gebhart M, Vic P, Richard N, Thivichon-Prince B, Francou B, Linglart A, Bacchetta J, Molin A", "evidence": [ { "database": "RefSeq", "id": "NP_000776", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000776" } ], "reference": [ { "type": "PubMed", "id": "36321535", "url": "https://glygen.org/publication/PubMed/36321535" } ] }, { "title": "The role of vitamin D-synthesizing enzyme CYP27B1 in systemic lupus erythematosus.", "journal": "Turkish journal of medical sciences", "date": "2022-08", "authors": "Luo Man, L\u0131u Jing, Yuan Yeshuang, Chen Yong, Yuan Guohua", "evidence": [ { "database": "RefSeq", "id": "NP_000776", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000776" } ], "reference": [ { "type": "PubMed", "id": "36326421", "url": "https://glygen.org/publication/PubMed/36326421" } ] }, { "title": "Clinical spectrum and diagnostic challenges of vitamin D dependent rickets type 1A (VDDR1A) caused by CYP27B1 mutation in resource limited countries.", "journal": "Journal of pediatric endocrinology & metabolism : JPEM", "date": "2022-12-19", "authors": "Aftab Sommayya, Khan Sabeen Abid, Malik Munir Iqbal, Imran Ahmed, Anjum Muhammad Nadeem, Saeed Anjum, Qureshi Abid Ali, Cheema Huma Arshad", "evidence": [ { "database": "RefSeq", "id": "NP_000776", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000776" } ], "reference": [ { "type": "PubMed", "id": "36524979", "url": "https://glygen.org/publication/PubMed/36524979" } ] }, { "title": "Local production of active vitamin D3 metabolites in breast cancer cells by CYP24A1 and CYP27B1.", "journal": "The Journal of steroid biochemistry and molecular biology", "date": "2023-09", "authors": "Dennis Cydney, Dillon Jonathan, Cohen David J, Halquist Matthew S, Pearcy Adam C, Schwartz Zvi, Boyan Barbara D", "evidence": [ { "database": "RefSeq", "id": "NP_000776", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000776" } ], "reference": [ { "type": "PubMed", "id": "37244301", "url": "https://glygen.org/publication/PubMed/37244301" } ] }, { "title": "Identification of glycoprotein 330 as an endocytic receptor for apolipoprotein J/clusterin.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Kounnas MZ, Loukinova EB, Stefansson S, Harmony JA, Brewer BH, Strickland DK, Argraves WS", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "7768901", "url": "https://glygen.org/publication/PubMed/7768901" } ] }, { "title": "Isolation and expression of human 1,25-dihydroxyvitamin D3 24-hydroxylase cDNA.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1993", "authors": "Chen KS, Prahl JM, DeLuca HF", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "8506296", "url": "https://glygen.org/publication/PubMed/8506296" } ] }, { "title": "Human 25-hydroxyvitamin D3-24-hydroxylase, a multicatalytic enzyme.", "journal": "Biochemistry", "date": "1996", "authors": "Beckman MJ, Tadikonda P, Werner E, Prahl J, Yamada S, DeLuca HF", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "8679605", "url": "https://glygen.org/publication/PubMed/8679605" } ] }, { "title": "Cloning and sequencing of human gp330, a Ca(2+)-binding receptor with potential intracellular signaling properties.", "journal": "European journal of biochemistry", "date": "1996", "authors": "Hjalm G, Murray E, Crumley G, Harazim W, Lundgren S, Onyango I, Ek B, Larsson M, Juhlin C, Hellman P, Davis H, Akerstrom G, Rask L, Morse B", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "8706697", "url": "https://glygen.org/publication/PubMed/8706697" } ] }, { "title": "Molecular cloning of cDNA and genomic DNA for human 25-hydroxyvitamin D3 1 alpha-hydroxylase.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1997", "authors": "Monkawa T, Yoshida T, Wakino S, Shinki T, Anazawa H, Deluca H F, Suda T, Hayashi M, Saruta T", "evidence": [ { "database": "UniProtKB", "id": "O15528", "url": "https://www.uniprot.org/uniprot/O15528" } ], "reference": [ { "type": "PubMed", "id": "9344864", "url": "https://glygen.org/publication/PubMed/9344864" } ] }, { "title": "Cloning of human 25-hydroxyvitamin D-1 alpha-hydroxylase and mutations causing vitamin D-dependent rickets type 1.", "journal": "Mol. Endocrinol.", "date": "1997", "authors": "Fu G K, Lin D, Zhang M Y, Bikle D D, Shackleton C H, Miller W L, Portale A A", "evidence": [ { "database": "UniProtKB", "id": "O15528", "url": "https://www.uniprot.org/uniprot/O15528" } ], "reference": [ { "type": "PubMed", "id": "9415400", "url": "https://glygen.org/publication/PubMed/9415400" } ] }, { "title": "Complete structure of the human gene for the vitamin D 1alpha-hydroxylase, P450c1alpha.", "journal": "DNA Cell Biol.", "date": "1997", "authors": "Fu G K, Portale A A, Miller W L", "evidence": [ { "database": "UniProtKB", "id": "O15528", "url": "https://www.uniprot.org/uniprot/O15528" } ], "reference": [ { "type": "PubMed", "id": "9428799", "url": "https://glygen.org/publication/PubMed/9428799" } ] }, { "title": "Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets.", "journal": "The New England journal of medicine", "date": "1998", "authors": "Kitanaka S, Takeyama K, Murayama A, Sato T, Okumura K, Nogami M, Hasegawa Y, Niimi H, Yanagisawa J, Tanaka T, Kato S", "evidence": [ { "database": "UniProtKB", "id": "O15528", "url": "https://www.uniprot.org/uniprot/O15528" }, { "database": "Reactome", "id": "R-HSA-5579014", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5579014" } ], "reference": [ { "type": "PubMed", "id": "9486994", "url": "https://glygen.org/publication/PubMed/9486994" } ] }, { "title": "Human retinoic acid (RA) 4-hydroxylase (CYP26) is highly specific for all-trans-RA and can be induced through RA receptors in human breast and colon carcinoma cells.", "journal": "Cell growth & differentiation : the molecular biology journal of the American Association for Cancer Research", "date": "1998", "authors": "Sonneveld E, van den Brink CE, van der Leede BM, Schulkes RK, Petkovich M, van der Burg B, van der Saag PT", "evidence": [ { "database": "Reactome", "id": "R-HSA-211916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211916" } ], "reference": [ { "type": "PubMed", "id": "9716180", "url": "https://glygen.org/publication/PubMed/9716180" } ] }, { "title": "Autocatalytic activation of human legumain at aspartic acid residues.", "journal": "FEBS letters", "date": "1998", "authors": "Halfon S, Patel S, Vega F, Zurawski S, Zurawski G", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "9821970", "url": "https://glygen.org/publication/PubMed/9821970" } ] }, { "title": "Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families.", "journal": "American journal of human genetics", "date": "1998", "authors": "Wang JT, Lin CJ, Burridge SM, Fu GK, Labuda M, Portale AA, Miller WL", "evidence": [ { "database": "UniProtKB", "id": "O15528", "url": "https://www.uniprot.org/uniprot/O15528" }, { "database": "Reactome", "id": "R-HSA-5579014", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5579014" } ], "reference": [ { "type": "PubMed", "id": "9837822", "url": "https://glygen.org/publication/PubMed/9837822" } ] } ], "pathway": [ { "id": "hsa:1594", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1594", "resource": "KEGG Pathway" }, { "id": "R-HSA-196791", "name": "Vitamin D (calciferol) metabolism", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791", "resource": "Reactome", "description": "Vitamin D (calciferol) metabolism" }, { "id": "R-HSA-211916", "name": "Vitamins", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211916", "resource": "Reactome", "description": "Vitamins" }, { "id": "R-HSA-5579014", "name": "Defective CYP27B1 causes VDDR1A", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5579014", "resource": "Reactome", "description": "Defective CYP27B1 causes VDDR1A" } ], "orthologs": [ { "uniprot_canonical_ac": "I3LDM2-1", "protein_name": "Cytochrome P450 family 27 subfamily B member 1", "gene_name": "CYP27B1", "tax_id": 9823, "organism": "Sus scrofa", "sequence": { "sequence": "MTQTLKLASRVFHRVCRAPELGSRGSDSAPRGLADLPGPSTPGFLAELFCKGGLSRLHELQVQGAARFGPVWLASFGKVRTVYVAAPTLVEQLLRQEGPLPERCSFSPWTEHRRRRQRSCGLLTAEGEEWQRLRSLLAPLLLRPQAAARYAGTLHDVVQDLVRRLRSQRGLGAGPPALVRDVAGEFYKFGLEGIAAVLLGSRLGCLEPEVPPDTETFIRAVGSVFVSTLLTMAMPSWLHRLVPGPWARLCRDWDQMFAFAQEHVERREAEAAMKSQGKPEEDLGSGAHLTYFLFREELPAPSILGNVTELLLAGVDTVSNTLSWALYELSRHPEVQMALHSEIKTALGPSSSAHPSATVLSQLPLLKAVVKEVLRLYPVVPGNSRVPDKDICVGDYIIPKNTLVTLCHYATSRDPAQFPEPNSFRPARWLGECPAPHPFASLPFGFGKRSCMGRRLAELELQMLAQILIHFEVQPEPGSAPIRPMTRTVLVPERSINLQFVDR", "length": 503 }, "evidence": [ { "id": "O15528", "url": "https://omabrowser.org/oma/group/O15528/", "database": "OMA" } ], "common_name": "Pig" }, { "uniprot_canonical_ac": "O35084-1", "protein_name": "25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial", "gene_name": "Cyp27b1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MTQAVKLASRVFHRIHLPLQLDASLGSRGSESVLRSLSDIPGPSTLSFLAELFCKGGLSRLHELQVHGAARYGPIWSGSFGTLRTVYVADPTLVEQLLRQESHCPERCSFSSWAEHRRRHQRACGLLTADGEEWQRLRSLLAPLLLRPQAAAGYAGTLDNVVRDLVRRLRRQRGRGSGLPGLVLDVAGEFYKFGLESIGAVLLGSRLGCLEAEVPPDTETFIHAVGSVFVSTLLTMAMPNWLHHLIPGPWARLCRDWDQMFAFAQRHVELREGEAAMRNQGKPEEDMPSGHHLTHFLFREKVSVQSIVGNVTELLLAGVDTVSNTLSWTLYELSRHPDVQTALHSEITAGTRGSCAHPHGTALSQLPLLKAVIKEVLRLYPVVPGNSRVPDRDIRVGNYVIPQDTLVSLCHYATSRDPTQFPDPNSFNPARWLGEGPTPHPFASLPFGFGKRSCIGRRLAELELQMALSQILTHFEVLPEPGALPIKPMTRTVLVPERSINLQFVDR", "length": 507 }, "evidence": [ { "id": "45931709", "url": "http://www.informatics.jax.org/homology/45931709", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "O35132-1", "protein_name": "25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial", "gene_name": "Cyp27b1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MTQAVKLASRVFHRVQLPSQLGSDSVLRSLSDIPGPSTPSFLAELFCKGGLSRLHELQVHGAARYGPIWSGSFGTLRTVYVADPALVEQLLRQESHCPERCSFSSWSEHRRRHQRACGLLTADGEEWQRLRSLLAPLLLRPQAAAGYAGTLDSVVSDLVRRLRRQRGRGSGLPDLVLDVAGEFYKFGLEGIGAVLLGSRLGCLEAEVPPDTETFIEAVGSVFVSTLLTMAMPSWLHRLIPGPWARLCRDWDQMFAFAQKHVEQREGEAAVRNQGKPEEDLPTGHHLTHFLFREKVSVQSIVGNVTELLLAGVDTVSNTLSWALYELSRHPEVQSALHSEITGAVNPGSYAHLQATALSQLPLLKAVIKEVLRLYPVVPGNSRVPDRDICVGNYVIPQDTLVSLCHYATSRDPAQFREPNSFNPARWLGEGPAPHPFASLPFGFGKRSCIGRRLAELELQMALAQILTHFEVLPEPGALPVKPMTRTVLVPERSIHLQFVDR", "length": 501 }, "evidence": [ { "id": "45931709", "url": "http://www.informatics.jax.org/homology/45931709", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 20, "go_terms": [ { "name": "vitamin metabolic process", "id": "GO:0006766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006766", "evidence": [ { "database": "UniProtKB", "id": "O15528", "url": "https://www.uniprot.org/uniprot/O15528" } ], "pmid": "" }, { "name": "vitamin D metabolic process", "id": "GO:0042359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042359", "evidence": [ { "database": "UniProtKB", "id": "O15528", "url": "https://www.uniprot.org/uniprot/O15528" } ], "pmid": "" }, { "name": "vitamin D catabolic process", "id": "GO:0042369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042369", "evidence": [ { "database": "UniProtKB", "id": "O15528", "url": "https://www.uniprot.org/uniprot/O15528" } ], "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": "O15528", "url": "https://www.uniprot.org/uniprot/O15528" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "O15528", "url": "https://www.uniprot.org/uniprot/O15528" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "O15528", "url": "https://www.uniprot.org/uniprot/O15528" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "O15528", "url": "https://www.uniprot.org/uniprot/O15528" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "O15528", "url": "https://www.uniprot.org/uniprot/O15528" } ], "pmid": "" }, { "name": "regulation of bone mineralization", "id": "GO:0030500", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030500", "evidence": [ { "database": "UniProtKB", "id": "O15528", "url": "https://www.uniprot.org/uniprot/O15528" } ], "pmid": "" }, { "name": "calcium ion homeostasis", "id": "GO:0055074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055074", "evidence": [ { "database": "UniProtKB", "id": "O15528", "url": "https://www.uniprot.org/uniprot/O15528" } ], "pmid": "" }, { "name": "response to vitamin D", "id": "GO:0033280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033280", "evidence": [ { "database": "UniProtKB", "id": "O15528", "url": "https://www.uniprot.org/uniprot/O15528" } ], "pmid": "" }, { "name": "decidualization", "id": "GO:0046697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046697", "evidence": [ { "database": "UniProtKB", "id": "O15528", "url": "https://www.uniprot.org/uniprot/O15528" } ], "pmid": "" }, { "name": "bone mineralization", "id": "GO:0030282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030282", "evidence": [ { "database": "UniProtKB", "id": "O15528", "url": "https://www.uniprot.org/uniprot/O15528" } ], "pmid": "" }, { "name": "G1 to G0 transition", "id": "GO:0070314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070314", "evidence": [ { "database": "UniProtKB", "id": "O15528", "url": "https://www.uniprot.org/uniprot/O15528" } ], "pmid": "" }, { "name": "response to type II interferon", "id": "GO:0034341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034341", "evidence": [ { "database": "UniProtKB", "id": "O15528", "url": "https://www.uniprot.org/uniprot/O15528" } ], "pmid": "" }, { "name": "negative regulation of calcidiol 1-monooxygenase activity", "id": "GO:0010956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010956", "evidence": [ { "database": "UniProtKB", "id": "O15528", "url": "https://www.uniprot.org/uniprot/O15528" } ], "pmid": "" }, { "name": "positive regulation of vitamin D 24-hydroxylase activity", "id": "GO:0010980", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010980", "evidence": [ { "database": "UniProtKB", "id": "O15528", "url": "https://www.uniprot.org/uniprot/O15528" } ], "pmid": "" }, { "name": "calcitriol biosynthetic process from calciol", "id": "GO:0036378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036378", "evidence": [ { "database": "UniProtKB", "id": "O15528", "url": "https://www.uniprot.org/uniprot/O15528" } ], "pmid": "" }, { "name": "positive regulation of keratinocyte differentiation", "id": "GO:0045618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045618", "evidence": [ { "database": "UniProtKB", "id": "O15528", "url": "https://www.uniprot.org/uniprot/O15528" } ], "pmid": "" }, { "name": "positive regulation of vitamin D receptor signaling pathway", "id": "GO:0070564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070564", "evidence": [ { "database": "UniProtKB", "id": "O15528", "url": "https://www.uniprot.org/uniprot/O15528" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 6, "go_terms": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "O15528", "url": "https://www.uniprot.org/uniprot/O15528" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "O15528", "url": "https://www.uniprot.org/uniprot/O15528" } ], "pmid": "" }, { "name": "calcidiol 1-monooxygenase activity", "id": "GO:0004498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004498", "evidence": [ { "database": "UniProtKB", "id": "O15528", "url": "https://www.uniprot.org/uniprot/O15528" } ], "pmid": "" }, { "name": "secalciferol 1-monooxygenase activity", "id": "GO:0062185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062185", "evidence": [ { "database": "UniProtKB", "id": "O15528", "url": "https://www.uniprot.org/uniprot/O15528" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004497", "evidence": [ { "database": "UniProtKB", "id": "O15528", "url": "https://www.uniprot.org/uniprot/O15528" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen", "id": "GO:0016705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016705", "evidence": [ { "database": "UniProtKB", "id": "O15528", "url": "https://www.uniprot.org/uniprot/O15528" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O15528", "url": "https://www.uniprot.org/uniprot/O15528" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O15528", "url": "https://www.uniprot.org/uniprot/O15528" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "O15528", "url": "https://www.uniprot.org/uniprot/O15528" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 310, "end_pos": 312, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "20573", "name": "", "equation": "calcidiol + 2 H(+) + O2 + 2 reduced [adrenodoxin] = calcitriol + H2O + 2 oxidized [adrenodoxin]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O35132-1", "O15528-1", "O35084-1" ], "evidence": [ { "id": "20573", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/20573" } ] }, { "id": "49048", "name": "", "equation": "25-hydroxyvitamin D2 + 2 H(+) + O2 + 2 reduced [adrenodoxin] = 1alpha,25-dihydroxyvitamin D2 + H2O + 2 oxidized [adrenodoxin]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O15528-1", "O35084-1" ], "evidence": [ { "id": "49048", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/49048" } ] }, { "id": "49064", "name": "", "equation": "2 H(+) + O2 + 2 reduced [adrenodoxin] + secalciferol = calcitetrol + H2O + 2 oxidized [adrenodoxin]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O35132-1", "O15528-1", "O35084-1" ], "evidence": [ { "id": "49064", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/49064" } ] }, { "id": "49068", "name": "", "equation": "25-hydroxy-24-oxocalciol + 2 H(+) + O2 + 2 reduced [adrenodoxin] = (1S)-1,25-dihydroxy-24-oxocalciol + H2O + 2 oxidized [adrenodoxin]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O15528-1", "O35084-1" ], "evidence": [ { "id": "49068", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/49068" } ] }, { "id": "R-HSA-209868", "name": "CYP27B1 hydroxylates 25(OH)D to 1,25(OH)2D", "equation": "", "summary": "The second step in vitamin D activation requires hydroxylation of 25-hydroxyvitamin D (calcidiol, 25(OH)D) to 1-alpha, 25-dihydroxyvitamin D (1,25(OH)2D). This conversion is mediated by 25-hydroxyvitamin D-1-alpha hydroxylase (CYP27B1), an outer mitochondrial membrane-resident protein (Zehnder et al. 2002, Fritsche et al. 2003, Sawada et al. 1999).", "cellular_location": "cytosol, mitochondrial outer membrane", "input_participant_list": [ "R-ALL-209804", "R-ALL-29368" ], "output_participant_list": [ "R-ALL-209800" ], "enzyme_list": [ "O15528-1" ], "evidence": [ { "id": "R-HSA-209868", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-209868" } ] }, { "id": "R-HSA-5602186", "name": "Defective CYP27B1 does not hydroxylate CDL", "equation": "", "summary": "The second step in vitamin D3 activation requires hydroxylation of 25-hydroxyvitamin D3 (calcidiol) to 1alpha-25-dihydroxyvitamin D3 (calcitriol). This conversion is mediated by 25-hydroxyvitamin D-1alpha hydroxylase (CYP27B1) (Zehnder et al. 2002, Fritsche et al. 2003). Defects in CYP27B1 can cause rickets, vitamin D-dependent 1A (VDDR1A; MIM:264700), a disorder caused by deficiency of the active form of vitamin D (CTL) resulting in defective bone mineralization and clinical features of rickets (Kim 2011). Mutations causing complete loss of function of CYP27B1 include R107H, G125E, R335P, P382S, R389G, R389H and D320Tfs*32 (Kitanaka et al. 1998, Wang et al. 2002, Wang et al. 1998).", "cellular_location": "cytosol, mitochondrial outer membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O15528-1" ], "evidence": [ { "id": "R-HSA-5602186", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5602186" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-209800", "participant_name": "1,25(OH)2D [cytosol]", "crossref": [ { "id": "C01673", "database": "COMPOUND", "url": "" }, { "id": "17823", "database": "ChEBI", "url": "" }, { "id": "HMDB0001903", "database": "HMDB Metabolite", "url": "" }, { "id": "000100015048", "database": "ZINC", "url": "" }, { "id": "2779", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "17823", "database": "ChEBI", "url": "" }, { "id": "000100015048", "database": "ZINC", "url": "" }, { "id": "2779", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "HMDB0001903", "database": "HMDB Metabolite", "url": "" }, { "id": "C01673", "database": "COMPOUND", "url": "" }, { "id": "C01673", "database": "COMPOUND", "url": "" }, { "id": "17823", "database": "ChEBI", "url": "" }, { "id": "HMDB0001903", "database": "HMDB Metabolite", "url": "" }, { "id": "000100015048", "database": "ZINC", "url": "" }, { "id": "2779", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "C01673", "database": "COMPOUND", "url": "" }, { "id": "17823", "database": "ChEBI", "url": "" }, { "id": "HMDB0001903", "database": "HMDB Metabolite", "url": "" }, { "id": "000100015048", "database": "ZINC", "url": "" }, { "id": "2779", "database": "Guide to Pharmacology - Ligands", "url": "" } ] }, { "participant_id": "R-ALL-209804", "participant_name": "25(OH)D [cytosol]", "crossref": [ { "id": "6921", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "HMDB0003550", "database": "HMDB Metabolite", "url": "" }, { "id": "C01561", "database": "COMPOUND", "url": "" }, { "id": "17933", "database": "ChEBI", "url": "" }, { "id": "000004474414", "database": "ZINC", "url": "" }, { "id": "C01561", "database": "COMPOUND", "url": "" }, { "id": "17933", "database": "ChEBI", "url": "" }, { "id": "HMDB0003550", "database": "HMDB Metabolite", "url": "" }, { "id": "000004474414", "database": "ZINC", "url": "" }, { "id": "6921", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "C01561", "database": "COMPOUND", "url": "" }, { "id": "17933", "database": "ChEBI", "url": "" }, { "id": "HMDB0003550", "database": "HMDB Metabolite", "url": "" }, { "id": "000004474414", "database": "ZINC", "url": "" }, { "id": "6921", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "000004474414", "database": "ZINC", "url": "" }, { "id": "17933", "database": "ChEBI", "url": "" }, { "id": "6921", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "HMDB0003550", "database": "HMDB Metabolite", "url": "" }, { "id": "C01561", "database": "COMPOUND", "url": "" } ] }, { "participant_id": "R-ALL-29368", "participant_name": "O2 [cytosol]", "crossref": [ { "id": "C00007", "database": "COMPOUND", "url": "" }, { "id": "15379", "database": "ChEBI", "url": "" }, { "id": "8145133", "database": "PubChem Substance", "url": "" }, { "id": "HMDB0001377", "database": "HMDB Metabolite", "url": "" }, { "id": "C00007", "database": "COMPOUND", "url": "" }, { "id": "15379", "database": "ChEBI", "url": "" }, { "id": "8145133", "database": "PubChem Substance", "url": "" }, { "id": "HMDB0001377", "database": "HMDB Metabolite", "url": "" }, { "id": "C00007", "database": "COMPOUND", "url": "" }, { "id": "15379", "database": "ChEBI", "url": "" }, { "id": "8145133", "database": "PubChem Substance", "url": "" }, { "id": "HMDB0001377", "database": "HMDB Metabolite", "url": "" }, { "id": "C00007", "database": "COMPOUND", "url": "" }, { "id": "15379", "database": "ChEBI", "url": "" }, { "id": "8145133", "database": "PubChem Substance", "url": "" }, { "id": "HMDB0001377", "database": "HMDB Metabolite", "url": "" }, { "id": "C00007", "database": "COMPOUND", "url": "" }, { "id": "15379", "database": "ChEBI", "url": "" }, { "id": "8145133", "database": "PubChem Substance", "url": "" }, { "id": "HMDB0001377", "database": "HMDB Metabolite", "url": "" }, { "id": "C00007", "database": "COMPOUND", "url": "" }, { "id": "15379", "database": "ChEBI", "url": "" }, { "id": "8145133", "database": "PubChem Substance", "url": "" }, { "id": "HMDB0001377", "database": "HMDB Metabolite", "url": "" }, { "id": "8145133", "database": "PubChem Substance", "url": "" }, { "id": "HMDB0001377", "database": "HMDB Metabolite", "url": "" }, { "id": "C00007", "database": "COMPOUND", "url": "" }, { "id": "15379", "database": "ChEBI", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "O15528", "gene_name": "CYP27B1", "activity": [ { "ec_number": "1.14.15.18", "activity": "2 H(+) + O2 + 2 reduced [adrenodoxin] + secalciferol = calcitetrol + H2O + 2 oxidized [adrenodoxin].", "evidence": [ { "id": "O15528", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15528" } ] }, { "ec_number": "1.14.15.18", "activity": "", "evidence": [ { "id": "O15528", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15528" } ] } ] }, { "uniprot_ac": "O35084", "gene_name": "Cyp27b1", "activity": [ { "ec_number": "1.14.15.18", "activity": "2 H(+) + O2 + 2 reduced [adrenodoxin] + secalciferol = calcitetrol + H2O + 2 oxidized [adrenodoxin].", "evidence": [ { "id": "O35084", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35084" } ] }, { "ec_number": "1.14.15.18", "activity": "", "evidence": [ { "id": "O35084", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35084" } ] } ] }, { "uniprot_ac": "O35132", "gene_name": "Cyp27b1", "activity": [ { "ec_number": "1.14.15.18", "activity": "2 H(+) + O2 + 2 reduced [adrenodoxin] + secalciferol = calcitetrol + H2O + 2 oxidized [adrenodoxin].", "evidence": [ { "id": "O35132", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35132" } ] }, { "ec_number": "1.14.15.18", "activity": "", "evidence": [ { "id": "O35132", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35132" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [ 338 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 310, "end_pos": 312 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "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": 57 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }