{ "uniprot_canonical_ac": "P11926-1", "uniprot_ac": "P11926", "uniprot_id": "DCOR_HUMAN", "mass": { "chemical_mass": 51148.0, "monoisotopic_mass": 51148.0 }, "refseq": { "ac": "NP_001274118", "name": "ornithine decarboxylase isoform 1", "summary": "This gene encodes the rate-limiting enzyme of the polyamine biosynthesis pathway which catalyzes ornithine to putrescine. The activity level for the enzyme varies in response to growth-promoting stimuli and exhibits a high turnover rate in comparison to other mammalian proteins. Originally localized to both chromosomes 2 and 7, the gene encoding this enzyme has been determined to be located on 2p25, with a pseudogene located on 7q31-qter. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Dec 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274118" }, "gene_names": [ { "name": "ODC1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P11926", "id": "P11926" }, { "name": "BABS; NEDBA; NEDBIA; ODC", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274118", "id": "NP_001274118" }, { "name": "ODC1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274118", "id": "NP_001274118" } ], "protein_names": [ { "name": "Ornithine decarboxylase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P11926" }, { "name": "4.1.1.17", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11926" }, { "name": "ODC", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11926" }, { "name": "ornithine decarboxylase isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274118", "id": "NP_001274118" } ], "function": [ { "annotation": "Catalyzes the first and rate-limiting step of polyamine biosynthesis that converts ornithine into putrescine, which is the precursor for the polyamines, spermidine and spermine. Polyamines are essential for cell proliferation and are implicated in cellular processes, ranging from DNA replication to apoptosis.", "evidence": [ { "database": "UniProtKB", "id": "P11926", "url": "https://www.uniprot.org/uniprot/P11926#function" }, { "database": "PubMed", "id": "17900240", "url": "https://glygen.org/publication/PubMed/17900240" } ] }, { "annotation": "Evaluation of the Influence of Biosurface Design on the Interaction between the Regulatory Peptide RS1-reg and ODC1 Reveals a Membrane-Dependent Affinity Increase.", "evidence": [ { "database": "RefSeq", "id": "NP_001274118", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274118" }, { "database": "PubMed", "id": "35735188", "url": "https://glygen.org/publication/PubMed/35735188" } ] }, { "annotation": "Expanding the phenotype: Four new cases and hope for treatment in Bachmann-Bupp syndrome. Erratum:[Am J Med Genet A. 2023 Jul;191(7):2003. PMID: 37078542]", "evidence": [ { "database": "RefSeq", "id": "NP_001274118", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274118" }, { "database": "PubMed", "id": "34477286", "url": "https://glygen.org/publication/PubMed/34477286" } ] }, { "annotation": "Ornithine decarboxylase (ODC1) gene variant (rs2302615) is associated with gastric cancer independently of Helicobacter pylori CagA serostatus.", "evidence": [ { "database": "RefSeq", "id": "NP_001274118", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274118" }, { "database": "PubMed", "id": "34376808", "url": "https://glygen.org/publication/PubMed/34376808" } ] }, { "annotation": "Repurposing eflornithine to treat a patient with a rare ODC1 gain-of-function variant disease. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001274118", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274118" }, { "database": "PubMed", "id": "34282722", "url": "https://glygen.org/publication/PubMed/34282722" } ] }, { "annotation": "Structural basis of binding and inhibition of ornithine decarboxylase by 1-amino-oxy-3-aminopropane.", "evidence": [ { "database": "RefSeq", "id": "NP_001274118", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274118" }, { "database": "PubMed", "id": "34796899", "url": "https://glygen.org/publication/PubMed/34796899" } ] }, { "annotation": "This gene encodes the rate-limiting enzyme of the polyamine biosynthesis pathway which catalyzes ornithine to putrescine. The activity level for the enzyme varies in response to growth-promoting stimuli and exhibits a high turnover rate in comparison to other mammalian proteins. Originally localized to both chromosomes 2 and 7, the gene encoding this enzyme has been determined to be located on 2p25, with a pseudogene located on 7q31-qter. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Dec 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_001274118", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274118" } ] } ], "disease": [ { "disease_id": "MONDO:0033642", "recommended_name": { "id": "MONDO:0033642", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033642", "name": "neurodevelopmental disorder with alopecia and brain abnormalities", "description": "" }, "synonyms": [ { "id": "MONDO:0033642", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033642", "name": "Bachmann-Bupp syndrome", "description": "" }, { "id": "MONDO:0033642", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033642", "name": "NEDABA", "description": "" }, { "id": "MONDO:0033642", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033642", "name": "global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome", "description": "" }, { "id": "MIM:619075", "resource": "MIM", "url": "https://www.omim.org/entry/619075", "name": "Bachmann-Bupp syndrome", "description": "Bachmann-Bupp syndrome" } ], "evidence": [ { "id": "619075", "database": "MIM", "url": "https://www.omim.org/entry/619075" } ] } ], "snv": [ { "evidence": [ { "id": "P11926", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P11926" } ], "glycoeffect": [], "start_pos": 364, "end_pos": 364, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "10441660", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D364", "disease": [ { "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: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: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": [ { "start_pos": 360, "end_pos": 360, "sequence_org": "C", "sequence_mut": "A", "comment": "25% decrease of in vitro nitrosylation level.", "evidence": [ { "database": "UniProtKB", "id": "P11926", "url": "https://www.uniprot.org/uniprot/P11926" }, { "database": "PubMed", "id": "11461922", "url": "https://glygen.org/publication/PubMed/11461922" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "96.46", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000115758", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115758" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "91.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000115758", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115758" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "94.33", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000115758", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115758" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "87.89", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000115758", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115758" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "98.19", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000115758", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115758" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "97.26", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000115758", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115758" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "95.12", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000115758", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115758" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "91.6", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000115758", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115758" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "92.53", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000115758", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115758" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "94.1", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000115758", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115758" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "93.13", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000115758", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115758" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "96.34", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000115758", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115758" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "89.72", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000115758", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115758" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P11926", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11926" } ], "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": "P11926", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11926" } ], "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": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P11926", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11926" } ], "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": "P11926", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11926" } ], "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": "P11926", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11926" } ], "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": "No", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P11926", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11926" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P11926", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11926" } ], "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": "P11926", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11926" } ], "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": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P11926", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11926" } ], "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": "P11926", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11926" } ], "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": "P11926", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11926" } ], "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": "P11926", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11926" } ], "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": "P11926", "url": "https://www.uniprot.org/uniprot/P11926" } ], "common_name": "Human" } ], "gene": [ { "name": "ODC1", "url": "https://www.uniprot.org/uniprot/P11926", "locus": { "chromosome": "2", "start_pos": 10439968, "end_pos": 10448327, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000115758", "url": "https://www.ensembl.org/id/ENSG00000115758" } ] } } ], "crossref": [ { "id": "ENSG00000115758", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115758", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P11926", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P11926", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "4.1.1.17", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=4.1.1.17&UniProtAcc=P11926", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "cd00622", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00622", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL1869", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL1869", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "ODC1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=ODC1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "4953", "url": "https://www.ncbi.nlm.nih.gov/gene/4953", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "8109", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=8109", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P11926", "url": "https://www.ebi.ac.uk/intact/interactors/id:P11926*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000183", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000183", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR002433", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002433", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR009006", "url": "https://www.ebi.ac.uk/interpro/entry/IPR009006", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR022643", "url": "https://www.ebi.ac.uk/interpro/entry/IPR022643", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR022644", "url": "https://www.ebi.ac.uk/interpro/entry/IPR022644", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR022653", "url": "https://www.ebi.ac.uk/interpro/entry/IPR022653", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR022657", "url": "https://www.ebi.ac.uk/interpro/entry/IPR022657", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR029066", "url": "https://www.ebi.ac.uk/interpro/entry/IPR029066", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:4953", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4953", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "165640", "url": "http://www.omim.org/entry/165640", "database": "MIM", "categories": [ "Other" ] }, { "id": "619075", "url": "http://www.omim.org/entry/619075", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P11926", "url": "https://www.nextprot.org/entry/NX_P11926", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "YCRSMAS", "url": "https://omabrowser.org/oma/group/YCRSMAS/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "48358at2759", "url": "http://www.orthodb.org/?query=48358at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11482", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11482", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11482:SF42", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11482:SF42", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1D7K", "url": "https://www.rcsb.org/structure/1D7K", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2ON3", "url": "https://www.rcsb.org/structure/2ON3", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2OO0", "url": "https://www.rcsb.org/structure/2OO0", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4ZGY", "url": "https://www.rcsb.org/structure/4ZGY", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5BWA", "url": "https://www.rcsb.org/structure/5BWA", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7S3F", "url": "https://www.rcsb.org/structure/7S3F", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7S3G", "url": "https://www.rcsb.org/structure/7S3G", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7U6P", "url": "https://www.rcsb.org/structure/7U6P", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7U6U", "url": "https://www.rcsb.org/structure/7U6U", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00278", "url": "http://pfam.xfam.org/family/PF00278", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF02784", "url": "http://pfam.xfam.org/family/PF02784", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P11926", "url": "https://pharos.nih.gov/targets/P11926", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P11926", "url": "http://purl.obolibrary.org/obo/PR_P11926", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-350562", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-350562", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-351202", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-351202", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001274118", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274118", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "22964", "url": "https://www.rhea-db.org/rhea/22964", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A8V8TQA2", "url": "https://www.uniprot.org/uniprot/A0A8V8TQA2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TQA2-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TQA2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JG30", "url": "https://www.uniprot.org/uniprot/C9JG30", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JG30-1", "url": "https://www.uniprot.org/uniprot/C9JG30-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P11926", "url": "https://www.uniprot.org/uniprot/P11926", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P11926-1", "url": "https://www.uniprot.org/uniprot/P11926-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MNNFGNEEFDCHFLDEGFTAKDILDQKINEVSSSDDKDAFYVADLGDILKKHLRWLKALPRVTPFYAVKCNDSKAIVKTLAATGTGFDCASKTEIQLVQSLGVPPERIIYANPCKQVSQIKYAANNGVQMMTFDSEVELMKVARAHPKAKLVLRIATDDSKAVCRLSVKFGATLRTSRLLLERAKELNIDVVGVSFHVGSGCTDPETFVQAISDARCVFDMGAEVGFSMYLLDIGGGFPGSEDVKLKFEEITGVINPALDKYFPSDSGVRIIAEPGRYYVASAFTLAVNIIAKKIVLKEQTGSDDEDESSEQTFMYYVNDGVYGSFNCILYDHAHVKPLLQKRPKPDEKYYSSSIWGPTCDGLDRIVERCDLPEMHVGDWMLFENMGAYTVAAASTFNGFQRPTIYYVMSGPAWQLMQQFQNPDFPPEVEEQDASTLPVSCAWESGMKRHRAACASASINV", "length": 461, "header": "sp|P11926-1|DCOR_HUMAN Isoform 1 of Ornithine decarboxylase OS=Homo sapiens OX=9606 GN=ODC1 PE=1 SV=2 CANONICAL=P11926-1" }, "isoforms": [ { "isoform_ac": "A0A8V8TQA2-1", "url": "", "sequence": { "sequence": "MNNFGNEEFDCHFLDEGFTAKDILDQKINEVSSSSNVMIAKPS", "length": 43, "header": "tr|A0A8V8TQA2-1|DCOR_HUMAN Computationally mapped isoform of Ornithine decarboxylase OS=Homo sapiens OX=9606 GN=ODC1 PE=1 SV=1 CANONICAL=P11926-1" }, "locus": { "chromosome": "2", "start_pos": 10445032, "end_pos": 10444521, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000446285.6", "url": "https://www.ensembl.org/id/ENST00000446285.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000514632.1", "url": "https://www.ensembl.org/id/ENSP00000514632.1" } ] } }, { "isoform_ac": "C9JG30-1", "url": "", "sequence": { "sequence": "MNNFGNEEFDCHFLDEGFTAKDILDQKINEVSSSDDKDAFYVADLGDILKKHLRWLKALPRVTPFYAV", "length": 68, "header": "tr|C9JG30-1|DCOR_HUMAN Computationally mapped isoform of Ornithine decarboxylase OS=Homo sapiens OX=9606 GN=ODC1 PE=1 SV=1 CANONICAL=P11926-1" }, "locus": { "chromosome": "2", "start_pos": 10445032, "end_pos": 10440727, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000443218.1", "url": "https://www.ensembl.org/id/ENST00000443218.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000390691.1", "url": "https://www.ensembl.org/id/ENSP00000390691.1" } ] } }, { "isoform_ac": "P11926-1", "url": "", "sequence": { "sequence": "MNNFGNEEFDCHFLDEGFTAKDILDQKINEVSSSDDKDAFYVADLGDILKKHLRWLKALPRVTPFYAVKCNDSKAIVKTLAATGTGFDCASKTEIQLVQSLGVPPERIIYANPCKQVSQIKYAANNGVQMMTFDSEVELMKVARAHPKAKLVLRIATDDSKAVCRLSVKFGATLRTSRLLLERAKELNIDVVGVSFHVGSGCTDPETFVQAISDARCVFDMGAEVGFSMYLLDIGGGFPGSEDVKLKFEEITGVINPALDKYFPSDSGVRIIAEPGRYYVASAFTLAVNIIAKKIVLKEQTGSDDEDESSEQTFMYYVNDGVYGSFNCILYDHAHVKPLLQKRPKPDEKYYSSSIWGPTCDGLDRIVERCDLPEMHVGDWMLFENMGAYTVAAASTFNGFQRPTIYYVMSGPAWQLMQQFQNPDFPPEVEEQDASTLPVSCAWESGMKRHRAACASASINV", "length": 461, "header": "sp|P11926-1|DCOR_HUMAN Isoform 1 of Ornithine decarboxylase OS=Homo sapiens OX=9606 GN=ODC1 PE=1 SV=2 CANONICAL=P11926-1" }, "locus": { "chromosome": "2", "start_pos": 10445032, "end_pos": 10440727, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000699836.1", "url": "https://www.ensembl.org/id/ENST00000699836.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514634.1", "url": "https://www.ensembl.org/id/ENSP00000514634.1" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 303, "end_pos": 303, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by CK2", "evidence": [ { "database": "UniProtKB", "id": "P11926", "url": "https://www.uniprot.org/uniprot/P11926" }, { "database": "iPTMnet", "id": "P11926", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11926" }, { "database": "PubMed", "id": "1872802", "url": "https://glygen.org/publication/PubMed/1872802" }, { "database": "PubMed", "id": "2026163", "url": "https://glygen.org/publication/PubMed/2026163" }, { "database": "PubMed", "id": "8486633", "url": "https://glygen.org/publication/PubMed/8486633" } ], "site_lbl": "Ser303" } ], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Nitric oxide inhibits ornithine decarboxylase by S-nitrosylation.", "journal": "Biochemical and biophysical research communications", "date": "1999", "authors": "Bauer PM, Fukuto JM, Buga GM, Pegg AE, Ignarro LJ", "evidence": [ { "database": "UniProtKB", "id": "P11926", "url": "https://www.uniprot.org/uniprot/P11926" } ], "reference": [ { "type": "PubMed", "id": "10462479", "url": "https://glygen.org/publication/PubMed/10462479" } ] }, { "title": "Crystal structure of human ornithine decarboxylase at 2.1 A resolution: structural insights to antizyme binding.", "journal": "Journal of molecular biology", "date": "2000", "authors": "Almrud JJ, Oliveira MA, Kern AD, Grishin NV, Phillips MA, Hackert ML", "evidence": [ { "database": "UniProtKB", "id": "P11926", "url": "https://www.uniprot.org/uniprot/P11926" } ], "reference": [ { "type": "PubMed", "id": "10623504", "url": "https://glygen.org/publication/PubMed/10623504" } ] }, { "title": "Nitric oxide inhibits ornithine decarboxylase via S-nitrosylation of cysteine 360 in the active site of the enzyme.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Bauer PM, Buga GM, Fukuto JM, Pegg AE, Ignarro LJ", "evidence": [ { "database": "UniProtKB", "id": "P11926", "url": "https://www.uniprot.org/uniprot/P11926" } ], "reference": [ { "type": "PubMed", "id": "11461922", "url": "https://glygen.org/publication/PubMed/11461922" } ] }, { "title": "The structural basis for substrate specificity and inhibition of human S-adenosylmethionine decarboxylase.", "journal": "Biochemistry", "date": "2001", "authors": "Tolbert WD, Ekstrom JL, Mathews II, Secrist JA 3rd, Kapoor P, Pegg AE, Ealick SE", "evidence": [ { "database": "Reactome", "id": "R-HSA-351202", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-351202" } ], "reference": [ { "type": "PubMed", "id": "11583147", "url": "https://glygen.org/publication/PubMed/11583147" } ] }, { "title": "Structural elements of antizymes 1 and 2 are required for proteasomal degradation of ornithine decarboxylase.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Chen H, MacDonald A, Coffino P", "evidence": [ { "database": "Reactome", "id": "R-HSA-350562", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-350562" } ], "reference": [ { "type": "PubMed", "id": "12359729", "url": "https://glygen.org/publication/PubMed/12359729" } ] }, { "title": "Determinants of proteasome recognition of ornithine decarboxylase, a ubiquitin-independent substrate.", "journal": "The EMBO journal", "date": "2003", "authors": "Zhang M, Pickart CM, Coffino P", "evidence": [ { "database": "Reactome", "id": "R-HSA-350562", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-350562" } ], "reference": [ { "type": "PubMed", "id": "12660156", "url": "https://glygen.org/publication/PubMed/12660156" } ] }, { "title": "Degradation of antizyme inhibitor, an ornithine decarboxylase homologous protein, is ubiquitin-dependent and is inhibited by antizyme.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Bercovich Z, Kahana C", "evidence": [ { "database": "Reactome", "id": "R-HSA-350562", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-350562" } ], "reference": [ { "type": "PubMed", "id": "15491992", "url": "https://glygen.org/publication/PubMed/15491992" } ] }, { "title": "20S proteasomal degradation of ornithine decarboxylase is regulated by NQO1.", "journal": "Molecular cell", "date": "2005", "authors": "Asher G, Bercovich Z, Tsvetkov P, Shaul Y, Kahana C", "evidence": [ { "database": "Reactome", "id": "R-HSA-350562", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-350562" } ], "reference": [ { "type": "PubMed", "id": "15749015", "url": "https://glygen.org/publication/PubMed/15749015" } ] }, { "title": "Multiple promoter elements govern expression of the human ornithine decarboxylase gene in colon carcinoma cells.", "journal": "Nucleic Acids Res.", "date": "1992", "authors": "Moshier J A, Osborne D L, Skunca M, Dosescu J, Gilbert J D, Fitzgerald M C, Polidori G, Wagner R L, Friezner Degen S J, Luk G D", "evidence": [ { "database": "UniProtKB", "id": "P11926", "url": "https://www.uniprot.org/uniprot/P11926" } ], "reference": [ { "type": "PubMed", "id": "1598217", "url": "https://glygen.org/publication/PubMed/1598217" } ] }, { "title": "Mechanisms of protein degradation: an odyssey with ODC.", "journal": "Cell cycle (Georgetown, Tex.)", "date": "2005", "authors": "Kahana C, Asher G, Shaul Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-350562", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-350562" } ], "reference": [ { "type": "PubMed", "id": "16205122", "url": "https://glygen.org/publication/PubMed/16205122" } ] }, { "title": "Transcriptomic and proteomic analyses of rhabdomyosarcoma cells reveal differential cellular gene expression in response to enterovirus 71 infection.", "journal": "Cell. Microbiol.", "date": "2006", "authors": "Leong WF, Chow VT", "evidence": [ { "database": "UniProtKB", "id": "P11926", "url": "https://www.uniprot.org/uniprot/P11926" } ], "reference": [ { "type": "PubMed", "id": "16548883", "url": "https://glygen.org/publication/PubMed/16548883" } ] }, { "title": "A structural insight into the inhibition of human and Leishmania donovani ornithine decarboxylases by 1-amino-oxy-3-aminopropane.", "journal": "The Biochemical journal", "date": "2007", "authors": "Dufe VT, Ingner D, Heby O, Khomutov AR, Persson L, Al-Karadaghi S", "evidence": [ { "database": "UniProtKB", "id": "P11926", "url": "https://www.uniprot.org/uniprot/P11926" } ], "reference": [ { "type": "PubMed", "id": "17407445", "url": "https://glygen.org/publication/PubMed/17407445" } ] }, { "title": "Human ornithine decarboxylase paralogue (ODCp) is an antizyme inhibitor but not an arginine decarboxylase.", "journal": "The Biochemical journal", "date": "2008", "authors": "Kanerva K, Makitie LT, Pelander A, Heiskala M, Andersson LC", "evidence": [ { "database": "UniProtKB", "id": "P11926", "url": "https://www.uniprot.org/uniprot/P11926" }, { "database": "Reactome", "id": "R-HSA-350562", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-350562" } ], "reference": [ { "type": "PubMed", "id": "17900240", "url": "https://glygen.org/publication/PubMed/17900240" } ] }, { "title": "Identification of residues in ornithine decarboxylase essential for enzymic activity and for rapid protein turnover.", "journal": "The Biochemical journal", "date": "1991", "authors": "Lu L, Stanley BA, Pegg AE", "evidence": [ { "database": "iPTMnet", "id": "P11926", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11926" } ], "reference": [ { "type": "PubMed", "id": "1872802", "url": "https://glygen.org/publication/PubMed/1872802" } ] }, { "title": "Mouse ornithine decarboxylase is phosphorylated by casein kinase-II at a predominant single location (serine 303).", "journal": "European journal of biochemistry", "date": "1991", "authors": "Rosenberg-Hasson Y, Strumpf D, Kahana C", "evidence": [ { "database": "iPTMnet", "id": "P11926", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11926" } ], "reference": [ { "type": "PubMed", "id": "2026163", "url": "https://glygen.org/publication/PubMed/2026163" } ] }, { "title": "Human spermidine synthase gene: structure and chromosomal localization.", "journal": "DNA and cell biology", "date": "1991", "authors": "Myohanen S, Kauppinen L, Wahlfors J, Alhonen L, Janne J", "evidence": [ { "database": "Reactome", "id": "R-HSA-351202", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-351202" } ], "reference": [ { "type": "PubMed", "id": "2069720", "url": "https://glygen.org/publication/PubMed/2069720" } ] }, { "title": "Human ornithine decarboxylase-encoding loci: nucleotide sequence of the expressed gene and characterization of a pseudogene.", "journal": "Gene", "date": "1990", "authors": "Hickok N J, Wahlfors J, Crozat A, Halmekyt\u00f6 M, Alhonen L, J\u00e4nne J, J\u00e4nne O A", "evidence": [ { "database": "UniProtKB", "id": "P11926", "url": "https://www.uniprot.org/uniprot/P11926" } ], "reference": [ { "type": "PubMed", "id": "2227439", "url": "https://glygen.org/publication/PubMed/2227439" } ] }, { "title": "Expression of human chromosome 2 ornithine decarboxylase gene in ornithine decarboxylase-deficient Chinese hamster ovary cells.", "journal": "Cancer Res.", "date": "1990", "authors": "Hsieh J T, Denning M F, Heidel S M, Verma A K", "evidence": [ { "database": "UniProtKB", "id": "P11926", "url": "https://www.uniprot.org/uniprot/P11926" } ], "reference": [ { "type": "PubMed", "id": "2317811", "url": "https://glygen.org/publication/PubMed/2317811" } ] }, { "title": "Isolation and expression of a human ornithine decarboxylase gene.", "journal": "J. Biol. Chem.", "date": "1990", "authors": "Moshier J A, Gilbert J D, Skunca M, Dosescu J, Almodovar K M, Luk G D", "evidence": [ { "database": "UniProtKB", "id": "P11926", "url": "https://www.uniprot.org/uniprot/P11926" } ], "reference": [ { "type": "PubMed", "id": "2318872", "url": "https://glygen.org/publication/PubMed/2318872" } ] }, { "title": "Nucleotide sequence of the human ornithine decarboxylase gene.", "journal": "Nucleic Acids Res.", "date": "1989", "authors": "van Steeg H, van Oostrom C T, Martens J W, van Kreyl C, Schepens J, Wieringa B", "evidence": [ { "database": "UniProtKB", "id": "P11926", "url": "https://www.uniprot.org/uniprot/P11926" } ], "reference": [ { "type": "PubMed", "id": "2587220", "url": "https://glygen.org/publication/PubMed/2587220" } ] }, { "title": "Structural basis of antizyme-mediated regulation of polyamine homeostasis.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2015", "authors": "Wu HY, Chen SF, Hsieh JY, Chou F, Wang YH, Lin WT, Lee PY, Yu YJ, Lin LY, Lin TS, Lin CL, Liu GY, Tzeng SR, Hung HC, Chan NL", "evidence": [ { "database": "UniProtKB", "id": "P11926", "url": "https://www.uniprot.org/uniprot/P11926" } ], "reference": [ { "type": "PubMed", "id": "26305948", "url": "https://glygen.org/publication/PubMed/26305948" } ] }, { "title": "Structural basis of ornithine decarboxylase inactivation and accelerated degradation by polyamine sensor antizyme1.", "journal": "Sci. Rep.", "date": "2015", "authors": "Wu D, Kaan HY, Zheng X, Tang X, He Y, Vanessa Tan Q, Zhang N, Song H", "evidence": [ { "database": "UniProtKB", "id": "P11926", "url": "https://www.uniprot.org/uniprot/P11926" } ], "reference": [ { "type": "PubMed", "id": "26443277", "url": "https://glygen.org/publication/PubMed/26443277" } ] }, { "title": "Characterization and sequence analysis of the human ornithine decarboxylase gene.", "journal": "DNA", "date": "1989", "authors": "Fitzgerald M C, Flanagan M A", "evidence": [ { "database": "UniProtKB", "id": "P11926", "url": "https://www.uniprot.org/uniprot/P11926" } ], "reference": [ { "type": "PubMed", "id": "2693021", "url": "https://glygen.org/publication/PubMed/2693021" } ] }, { "title": "Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features.", "journal": "American journal of medical genetics. Part A", "date": "2018", "authors": "Bupp CP, Schultz CR, Uhl KL, Rajasekaran S, Bachmann AS", "evidence": [ { "database": "UniProtKB", "id": "P11926", "url": "https://www.uniprot.org/uniprot/P11926" } ], "reference": [ { "type": "PubMed", "id": "30239107", "url": "https://glygen.org/publication/PubMed/30239107" } ] }, { "title": "Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities.", "journal": "American journal of medical genetics. Part A", "date": "2018", "authors": "Rodan LH, Anyane-Yeboa K, Chong K, Klein Wassink-Ruiter JS, Wilson A, Smith L, Kothare SV, Rajabi F, Blaser S, Ni M, DeBerardinis RJ, Poduri A, Berry GT", "evidence": [ { "database": "UniProtKB", "id": "P11926", "url": "https://www.uniprot.org/uniprot/P11926" } ], "reference": [ { "type": "PubMed", "id": "30475435", "url": "https://glygen.org/publication/PubMed/30475435" } ] }, { "title": "Cell-cycle-dependent expression of human ornithine decarboxylase.", "journal": "J. Cell. Physiol.", "date": "1987", "authors": "Kaczmarek L, Calabretta B, Ferrari S, de Riel J K", "evidence": [ { "database": "UniProtKB", "id": "P11926", "url": "https://www.uniprot.org/uniprot/P11926" } ], "reference": [ { "type": "PubMed", "id": "3308908", "url": "https://glygen.org/publication/PubMed/3308908" } ] }, { "title": "Repurposing eflornithine to treat a patient with a rare ODC1 gain-of-function variant disease.", "journal": "eLife", "date": "2021", "authors": "Rajasekaran S, Bupp CP, Leimanis-Laurens M, Shukla A, Russell C, Junewick J, Gleason E, VanSickle EA, Edgerly Y, Wittmann BM, Prokop JW, Bachmann AS", "evidence": [ { "database": "RefSeq", "id": "NP_001274118", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274118" } ], "reference": [ { "type": "PubMed", "id": "34282722", "url": "https://glygen.org/publication/PubMed/34282722" } ] }, { "title": "Ornithine decarboxylase (ODC1) gene variant (rs2302615) is associated with gastric cancer independently of Helicobacter pylori CagA serostatus.", "journal": "Oncogene", "date": "2021", "authors": "Miller AK, Tavera G, Dominguez RL, Camargo MC, Waterboer T, Wilson KT, Williams SM, Morgan DR", "evidence": [ { "database": "RefSeq", "id": "NP_001274118", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274118" } ], "reference": [ { "type": "PubMed", "id": "34376808", "url": "https://glygen.org/publication/PubMed/34376808" } ] }, { "title": "Expanding the phenotype: Four new cases and hope for treatment in Bachmann-Bupp syndrome.", "journal": "American journal of medical genetics. Part A", "date": "2021", "authors": "VanSickle EA, Michael J, Bachmann AS, Rajasekaran S, Prokop JW, Kuzniecky R, Hofstede FC, Steindl K, Rauch A, Lipson MH, Bupp CP", "evidence": [ { "database": "RefSeq", "id": "NP_001274118", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274118" } ], "reference": [ { "type": "PubMed", "id": "34477286", "url": "https://glygen.org/publication/PubMed/34477286" } ] }, { "title": "Structural basis of binding and inhibition of ornithine decarboxylase by 1-amino-oxy-3-aminopropane.", "journal": "The Biochemical journal", "date": "2021", "authors": "Zhou XE, Suino-Powell K, Schultz CR, Aleiwi B, Brunzelle JS, Lamp J, Vega IE, Ellsworth E, Bachmann AS, Melcher K", "evidence": [ { "database": "RefSeq", "id": "NP_001274118", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274118" } ], "reference": [ { "type": "PubMed", "id": "34796899", "url": "https://glygen.org/publication/PubMed/34796899" } ] }, { "title": "Evaluation of the Influence of Biosurface Design on the Interaction between the Regulatory Peptide RS1-reg and ODC1 Reveals a Membrane-Dependent Affinity Increase.", "journal": "Advanced biology", "date": "2022-10", "authors": "Keller Thorsten, Koepsell Hermann, Groll J\u00fcrgen", "evidence": [ { "database": "RefSeq", "id": "NP_001274118", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274118" } ], "reference": [ { "type": "PubMed", "id": "35735188", "url": "https://glygen.org/publication/PubMed/35735188" } ] }, { "title": "Complete amino acid sequence of human ornithine decarboxylase deduced from complementary DNA.", "journal": "DNA", "date": "1987", "authors": "Hickok N J, Sepp\u00e4nen P J, Gunsalus G L, J\u00e4nne O A", "evidence": [ { "database": "UniProtKB", "id": "P11926", "url": "https://www.uniprot.org/uniprot/P11926" } ], "reference": [ { "type": "PubMed", "id": "3595418", "url": "https://glygen.org/publication/PubMed/3595418" } ] }, { "title": "Molecular cloning of a cDNA encoding human spermine synthase.", "journal": "DNA and cell biology", "date": "1995", "authors": "Korhonen VP, Halmekyto M, Kauppinen L, Myohanen S, Wahlfors J, Keinanen T, Hyvonen T, Alhonen L, Eloranta T, Janne J", "evidence": [ { "database": "Reactome", "id": "R-HSA-351202", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-351202" } ], "reference": [ { "type": "PubMed", "id": "7546290", "url": "https://glygen.org/publication/PubMed/7546290" } ] }, { "title": "Molecular cloning and sequencing of a human cDNA encoding ornithine decarboxylase antizyme.", "journal": "Biochimica et biophysica acta", "date": "1994", "authors": "Tewari DS, Qian Y, Thornton RD, Pieringer J, Taub R, Mochan E, Tewari M", "evidence": [ { "database": "Reactome", "id": "R-HSA-350562", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-350562" } ], "reference": [ { "type": "PubMed", "id": "7811704", "url": "https://glygen.org/publication/PubMed/7811704" } ] }, { "title": "Spermidine-induced destabilization of ornithine decarboxylase (ODC) is mediated by accumulation of antizyme in ODC-overproducing variant cells.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Kanamoto R, Kameji T, Iwashita S, Igarashi K, Hayashi S", "evidence": [ { "database": "iPTMnet", "id": "P11926", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11926" } ], "reference": [ { "type": "PubMed", "id": "8486633", "url": "https://glygen.org/publication/PubMed/8486633" } ] }, { "title": "Regulation of ornithine decarboxylase mRNA levels in human breast cancer cells: pattern of expression and involvement of core enhancer promoter element.", "journal": "Cell Growth Differ.", "date": "1995", "authors": "Wright P S, Cooper J R, Cross-Doersen D E, Miller J A, Chmielewski P A, Wagner R L, Streng K A, Flanagan M A", "evidence": [ { "database": "UniProtKB", "id": "P11926", "url": "https://www.uniprot.org/uniprot/P11926" } ], "reference": [ { "type": "PubMed", "id": "8519686", "url": "https://glygen.org/publication/PubMed/8519686" } ] }, { "title": "Molcecular cloning of human antizyme cDNA.", "journal": "Biochemistry and molecular biology international", "date": "1996", "authors": "Yang D, Takii T, Hayashi H, Itoh S, Hayashi M, Onozaki K", "evidence": [ { "database": "Reactome", "id": "R-HSA-350562", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-350562" } ], "reference": [ { "type": "PubMed", "id": "9132164", "url": "https://glygen.org/publication/PubMed/9132164" } ] }, { "title": "Cloning and sequencing of a human cDNA encoding ornithine decarboxylase antizyme inhibitor.", "journal": "Biochimica et biophysica acta", "date": "1997", "authors": "Koguchi K, Kobayashi S, Hayashi T, Matsufuji S, Murakami Y, Hayashi S", "evidence": [ { "database": "Reactome", "id": "R-HSA-350562", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-350562" } ], "reference": [ { "type": "PubMed", "id": "9349715", "url": "https://glygen.org/publication/PubMed/9349715" } ] } ], "pathway": [ { "id": "hsa:4953", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4953", "resource": "KEGG Pathway" }, { "id": "R-HSA-350562", "name": "Regulation of ornithine decarboxylase (ODC)", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-350562", "resource": "Reactome", "description": "Regulation of ornithine decarboxylase (ODC)" }, { "id": "R-HSA-351202", "name": "Metabolism of polyamines", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-351202", "resource": "Reactome", "description": "Metabolism of polyamines" } ], "orthologs": [ { "uniprot_canonical_ac": "P00860-1", "protein_name": "Ornithine decarboxylase", "gene_name": "Odc1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MSSFTKDEFDCHILDEGFTAKDILDQKINEVSSSDDKDAFYVADLGDILKKHLRWLKALPRVTPFYAVKCNDSRAIVSTLAAIGTGFDCASKTEIQLVQGLGVPAERVIYANPCKQVSQIKYAASNGVQMMTFDSEIELMKVARAHPKAKLVLRIATDDSKAVCRLSVKFGATLKTSRLLLERAKELNIDVIGVSFHVGSGCTDPETFVQAVSDARCVFDMATEVGFSMHLLDIGGGFPGSEDTKLKFEEITSVINPALDKYFPSDSGVRIIAEPGRYYVASAFTLAVNIIAKKTVWKEQPGSDDEDESNEQTFMYYVNDGVYGSFNCILYDHAHVKALLQKRPKPDEKYYSSSIWGPTCDGLDRIVERCNLPEMHVGDWMLFENMGAYTVAAASTFNGFQRPNIYYVMSRPMWQLMKQIQSHGFPPEVEEQDDGTLPMSCAQESGMDRHPAACASARINV", "length": 461 }, "evidence": [ { "id": "45916830", "url": "http://www.informatics.jax.org/homology/45916830", "database": "MGI" }, { "id": "P11926", "url": "https://omabrowser.org/oma/group/P11926/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "P09057-1", "protein_name": "Ornithine decarboxylase", "gene_name": "Odc1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MGSFTKEEFDCHILDEGFTAKDILDQKINEVSSSDDKDAFYVADLGDVLKKHLRWLKALPRVTPFYAVKCNDSRAIVSTLAAIGTGFDCASKTEIQLVQGLGVPPERIIYANPCKQVSQIKYAASNGVQMMTFDSEIELMKVARAHPKAKLVLRIATDDSKAVCRLSVKFGATLKTSRLLLERAKELNIDVIGVSFHVGSGCTDPETFVQAVSDARCVFDMGTEVGFSMYLLDIGGGFPGSEDTKLKFEEITSVINPALDKYFPSDSGVRIIAEPGRYYVASAFTLAVNIIAKKTVWKEQTGSDDEDESNEQTLMYYVNDGVYGSFNCILYDHAHVKALLQKRPKPDEKYYSSSIWGPTCDGLDRIVERCSLPEMHVGDWMLFENMGAYTVAAASTFNGFQRPNIYYVMSRSMWQLMKQIQSHGFPPEVEEQDVGTLPMSCAQESGMDRHPAACASASINV", "length": 461 }, "evidence": [ { "id": "45916830", "url": "http://www.informatics.jax.org/homology/45916830", "database": "MGI" }, { "id": "P11926", "url": "https://omabrowser.org/oma/group/P11926/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P40807-1", "protein_name": "Ornithine decarboxylase 1", "gene_name": "Odc1", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MAAATPEIQFYERELNIRRVIEECDLQRLDQALNICDLSSVERKLRLWQKLLPRIKPFYAVKCNDDPMVVRLLAQLGAGFDCASKNEVKLVLGFDVSPERIIFANPCRPVSHLEYAKEHQVSNGTVDNEFEVYKLHTHYPNSNLIVRFKSEAKEAQCPLGDKFGCDADVDAAALMLLAKSLELKVTGTSFHVGSGCSELQAYDRAIKKAKNLFKFGALLGYDMDFLDIGGGFPGSDDVKFEKIAESVNTSVQRHFPDERVHIIAEPGRFFVAAACTLVCKIHAKREIRNEAGKLDTVMYYLNDGVYGSFNCILYDHQVVIAEHYLDNAESLPHLKSLIWGPSCDALDKISEDLHLPNLNRGDLLGFRNMGAYTMPIASAFNGFEVPKTLYFQAI", "length": 394 }, "evidence": [ { "id": "P11926", "url": "https://omabrowser.org/oma/group/P11926/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "catalytic activity", "id": "GO:0003824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003824", "evidence": [ { "database": "UniProtKB", "id": "P11926", "url": "https://www.uniprot.org/uniprot/P11926" } ], "pmid": "" }, { "name": "ornithine decarboxylase activity", "id": "GO:0004586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004586", "evidence": [ { "database": "UniProtKB", "id": "P11926", "url": "https://www.uniprot.org/uniprot/P11926" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P11926", "url": "https://www.uniprot.org/uniprot/P11926" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 8, "go_terms": [ { "name": "polyamine biosynthetic process", "id": "GO:0006596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006596", "evidence": [ { "database": "UniProtKB", "id": "P11926", "url": "https://www.uniprot.org/uniprot/P11926" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "P11926", "url": "https://www.uniprot.org/uniprot/P11926" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "P11926", "url": "https://www.uniprot.org/uniprot/P11926" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "P11926", "url": "https://www.uniprot.org/uniprot/P11926" } ], "pmid": "" }, { "name": "response to virus", "id": "GO:0009615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009615", "evidence": [ { "database": "UniProtKB", "id": "P11926", "url": "https://www.uniprot.org/uniprot/P11926" } ], "pmid": "" }, { "name": "putrescine biosynthetic process from ornithine", "id": "GO:0033387", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033387", "evidence": [ { "database": "UniProtKB", "id": "P11926", "url": "https://www.uniprot.org/uniprot/P11926" } ], "pmid": "" }, { "name": "regulation of protein catabolic process", "id": "GO:0042176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042176", "evidence": [ { "database": "UniProtKB", "id": "P11926", "url": "https://www.uniprot.org/uniprot/P11926" } ], "pmid": "" }, { "name": "polyamine metabolic process", "id": "GO:0006595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006595", "evidence": [ { "database": "UniProtKB", "id": "P11926", "url": "https://www.uniprot.org/uniprot/P11926" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P11926", "url": "https://www.uniprot.org/uniprot/P11926" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P11926", "url": "https://www.uniprot.org/uniprot/P11926" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 71, "end_pos": 73, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "S-Nitrosylation inhibits the enzyme. S-Nitrosylated in vitro on 4 cysteine residues.", "evidence": [ { "database": "UniProtKB", "id": "P11926", "url": "https://www.uniprot.org/uniprot/P11926" }, { "database": "PubMed", "id": "10462479", "url": "https://glygen.org/publication/PubMed/10462479" }, { "database": "PubMed", "id": "11461922", "url": "https://glygen.org/publication/PubMed/11461922" } ] } ], "interactions": [], "reactions": [ { "id": "22964", "name": "", "equation": "H(+) + L-ornithine = CO2 + putrescine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P09057-1", "P11926-1", "P00860-1", "P08432-1", "Q54UF3-1", "P40808-1", "P40807-1" ], "evidence": [ { "id": "22964", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/22964" } ] }, { "id": "R-HSA-350567", "name": "Antizyme OAZ binds to Ornithine decarboxylase", "equation": "", "summary": "Antizyme is a non-competitive inhibitor of ODC that is synthesized in response to an increase in polyamine concentration. Tight binding of the antizyme to the ODC monomer forming a heterodimer prevents enzymatic activity. The region of antizyme interacting with ODC is contained in a section involving residues 106\u2013212 in the COOH-terminal half of the antizyme molecule. The induction of antizyme thus leads to a loss of active ODC protein (Pegg, 2006 and references cited in that review).
", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P11926-1" ], "evidence": [ { "id": "R-HSA-350567", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-350567" } ] }, { "id": "R-HSA-350578", "name": "NQO1 interaction with ODC", "equation": "", "summary": "A novel pathway has been described for ODC degradation during oxidative stress, which is regulated by NAD(P)H quinone oxidoreductase (NQO1). In this pathway, the 20S proteasome has been shown to degrade unfolded ODC monomers. This event does not require the COOH-terminal domain. NQO1 binds to ODC and stabilizes it. If this interaction is disrupted with dicoumarol, it sensitizes ODC monomers to degradation by the 20S proteasome independent of both antizyme and ubiquitin. The details of the role of this pathway remains to be determined, but it could be involved in the nascent ODC chain turnover.", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P11926-1", "P15559-1" ], "evidence": [ { "id": "R-HSA-350578", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-350578" } ] }, { "id": "R-HSA-350600", "name": "Antizyme inhibitor binds to OAZ and stablizes ODC complex", "equation": "", "summary": "Antizyme inhibitor blocks the effects of antizyme on ODC. It has substantial similarity to ODC itself but has no ODC activity. It binds to antizyme more tightly than ODC displacing ODC from the antizyme-ODC complex. Recent studies have shown that antizyme inhibitor is able to disrupt the interaction between all forms of mammalian antizyme and ODC (Murakami et al., 1996, Nilsson et al., 2000, Mangold and Leberer, 2005).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P11926-1" ], "evidence": [ { "id": "R-HSA-350600", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-350600" } ] }, { "id": "R-HSA-353125", "name": "26S proteosome degrades ODC holoenzyme complex", "equation": "", "summary": "The rapid turnover of ODC is brought about by the 26S proteasome. Proteolytic processing of ODC is highly unusual in that ubiquitination is not required for this degradation. Instead, a non-covalent association with antizyme directs ODC to the proteasome. Antizyme increases the degradation of ODC by enhancing its interaction with the proteasome (Pegg, 2006).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "A5LHX3-1", "P11926-1", "O00487-1", "P28074-1", "Q99436-1", "P28072-1", "P40306-1", "P28065-1", "P28062-1" ], "evidence": [ { "id": "R-HSA-353125", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-353125" } ] }, { "id": "R-HSA-70692", "name": "ornithine => putrescine + CO2", "equation": "", "summary": "L-ornithine is converted into putrescine by ODC holoenzyme complex.Putrescine is subsequent used for polyamine synthesis.", "cellular_location": "cytosol", "input_participant_list": [ "R-ALL-29498" ], "output_participant_list": [ "R-ALL-29610" ], "enzyme_list": [ "P11926-1" ], "evidence": [ { "id": "R-HSA-70692", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70692" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-29498", "participant_name": "L-Orn [cytosol]", "crossref": [ { "id": "C00077", "database": "COMPOUND", "url": "" }, { "id": "46911", "database": "ChEBI", "url": "" }, { "id": "000001532530", "database": "ZINC", "url": "" }, { "id": "C00077", "database": "COMPOUND", "url": "" }, { "id": "46911", "database": "ChEBI", "url": "" }, { "id": "000001532530", "database": "ZINC", "url": "" }, { "id": "C00077", "database": "COMPOUND", "url": "" }, { "id": "46911", "database": "ChEBI", "url": "" }, { "id": "000001532530", "database": "ZINC", "url": "" }, { "id": "C00077", "database": "COMPOUND", "url": "" }, { "id": "46911", "database": "ChEBI", "url": "" }, { "id": "000001532530", "database": "ZINC", "url": "" }, { "id": "C00077", "database": "COMPOUND", "url": "" }, { "id": "46911", "database": "ChEBI", "url": "" }, { "id": "000001532530", "database": "ZINC", "url": "" }, { "id": "46911", "database": "ChEBI", "url": "" }, { "id": "C00077", "database": "COMPOUND", "url": "" }, { "id": "000001532530", "database": "ZINC", "url": "" }, { "id": "46911", "database": "ChEBI", "url": "" }, { "id": "000001532530", "database": "ZINC", "url": "" }, { "id": "C00077", "database": "COMPOUND", "url": "" } ] }, { "participant_id": "R-ALL-29610", "participant_name": "Putrescine [cytosol]", "crossref": [ { "id": "C00134", "database": "COMPOUND", "url": "" }, { "id": "326268", "database": "ChEBI", "url": "" }, { "id": "000005828633", "database": "ZINC", "url": "" }, { "id": "000005828633", "database": "ZINC", "url": "" }, { "id": "C00134", "database": "COMPOUND", "url": "" }, { "id": "326268", "database": "ChEBI", "url": "" }, { "id": "C00134", "database": "COMPOUND", "url": "" }, { "id": "000005828633", "database": "ZINC", "url": "" }, { "id": "326268", "database": "ChEBI", "url": "" }, { "id": "C00134", "database": "COMPOUND", "url": "" }, { "id": "326268", "database": "ChEBI", "url": "" }, { "id": "000005828633", "database": "ZINC", "url": "" }, { "id": "326268", "database": "ChEBI", "url": "" }, { "id": "000005828633", "database": "ZINC", "url": "" }, { "id": "C00134", "database": "COMPOUND", "url": "" }, { "id": "326268", "database": "ChEBI", "url": "" }, { "id": "000005828633", "database": "ZINC", "url": "" }, { "id": "C00134", "database": "COMPOUND", "url": "" }, { "id": "326268", "database": "ChEBI", "url": "" }, { "id": "C00134", "database": "COMPOUND", "url": "" }, { "id": "000005828633", "database": "ZINC", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "A5LHX3", "gene_name": "PSMB11", "activity": [ { "ec_number": "3.4.25.1", "activity": "Cleavage of peptide bonds with very broad specificity.", "evidence": [ { "id": "A5LHX3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A5LHX3" } ] }, { "ec_number": "3.4.25.1", "activity": "", "evidence": [ { "id": "A5LHX3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A5LHX3" } ] } ] }, { "uniprot_ac": "O00487", "gene_name": "PSMD14", "activity": [ { "ec_number": "3.4.19.-", "activity": "", "evidence": [ { "id": "O00487", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00487" } ] } ] }, { "uniprot_ac": "P00860", "gene_name": "Odc1", "activity": [ { "ec_number": "4.1.1.17", "activity": "H(+) + L-ornithine = CO2 + putrescine.", "evidence": [ { "id": "P00860", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00860" } ] }, { "ec_number": "4.1.1.17", "activity": "", "evidence": [ { "id": "P00860", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00860" } ] } ] }, { "uniprot_ac": "P08432", "gene_name": "SPE1", "activity": [ { "ec_number": "4.1.1.17", "activity": "H(+) + L-ornithine = CO2 + putrescine.", "evidence": [ { "id": "P08432", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08432" } ] }, { "ec_number": "4.1.1.17", "activity": "", "evidence": [ { "id": "P08432", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08432" } ] } ] }, { "uniprot_ac": "P09057", "gene_name": "Odc1", "activity": [ { "ec_number": "4.1.1.17", "activity": "H(+) + L-ornithine = CO2 + putrescine.", "evidence": [ { "id": "P09057", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09057" } ] }, { "ec_number": "4.1.1.17", "activity": "", "evidence": [ { "id": "P09057", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09057" } ] } ] }, { "uniprot_ac": "P11926", "gene_name": "ODC1", "activity": [ { "ec_number": "4.1.1.17", "activity": "H(+) + L-ornithine = CO2 + putrescine.", "evidence": [ { "id": "P11926", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11926" } ] }, { "ec_number": "4.1.1.17", "activity": "", "evidence": [ { "id": "P11926", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11926" } ] } ] }, { "uniprot_ac": "P15559", "gene_name": "NQO1", "activity": [ { "ec_number": "1.6.5.2", "activity": "a quinone + H(+) + NADPH = a quinol + NADP(+).", "evidence": [ { "id": "P15559", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15559" } ] }, { "ec_number": "1.6.5.2", "activity": "", "evidence": [ { "id": "P15559", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15559" } ] } ] }, { "uniprot_ac": "P28062", "gene_name": "PSMB8", "activity": [ { "ec_number": "3.4.25.1", "activity": "Cleavage of peptide bonds with very broad specificity.", "evidence": [ { "id": "P28062", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28062" } ] }, { "ec_number": "3.4.25.1", "activity": "", "evidence": [ { "id": "P28062", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28062" } ] } ] }, { "uniprot_ac": "P28065", "gene_name": "PSMB9", "activity": [ { "ec_number": "3.4.25.1", "activity": "Cleavage of peptide bonds with very broad specificity.", "evidence": [ { "id": "P28065", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28065" } ] }, { "ec_number": "3.4.25.1", "activity": "", "evidence": [ { "id": "P28065", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28065" } ] } ] }, { "uniprot_ac": "P28072", "gene_name": "PSMB6", "activity": [ { "ec_number": "3.4.25.1", "activity": "Cleavage of peptide bonds with very broad specificity.", "evidence": [ { "id": "P28072", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28072" } ] }, { "ec_number": "3.4.25.1", "activity": "", "evidence": [ { "id": "P28072", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28072" } ] } ] }, { "uniprot_ac": "P28074", "gene_name": "PSMB5", "activity": [ { "ec_number": "3.4.25.1", "activity": "Cleavage of peptide bonds with very broad specificity.", "evidence": [ { "id": "P28074", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28074" } ] }, { "ec_number": "3.4.25.1", "activity": "", "evidence": [ { "id": "P28074", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28074" } ] } ] }, { "uniprot_ac": "P40306", "gene_name": "PSMB10", "activity": [ { "ec_number": "3.4.25.1", "activity": "Cleavage of peptide bonds with very broad specificity.", "evidence": [ { "id": "P40306", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P40306" } ] }, { "ec_number": "3.4.25.1", "activity": "", "evidence": [ { "id": "P40306", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P40306" } ] } ] }, { "uniprot_ac": "P40807", "gene_name": "Odc1", "activity": [ { "ec_number": "4.1.1.17", "activity": "H(+) + L-ornithine = CO2 + putrescine.", "evidence": [ { "id": "P40807", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P40807" } ] }, { "ec_number": "4.1.1.17", "activity": "", "evidence": [ { "id": "P40807", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P40807" } ] } ] }, { "uniprot_ac": "P40808", "gene_name": "Odc2", "activity": [ { "ec_number": "4.1.1.17", "activity": "H(+) + L-ornithine = CO2 + putrescine.", "evidence": [ { "id": "P40808", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P40808" } ] }, { "ec_number": "4.1.1.17", "activity": "", "evidence": [ { "id": "P40808", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P40808" } ] } ] }, { "uniprot_ac": "Q54UF3", "gene_name": "odc", "activity": [ { "ec_number": "4.1.1.17", "activity": "H(+) + L-ornithine = CO2 + putrescine.", "evidence": [ { "id": "Q54UF3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54UF3" } ] }, { "ec_number": "4.1.1.17", "activity": "", "evidence": [ { "id": "Q54UF3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54UF3" } ] } ] }, { "uniprot_ac": "Q99436", "gene_name": "PSMB7", "activity": [ { "ec_number": "3.4.25.1", "activity": "Cleavage of peptide bonds with very broad specificity.", "evidence": [ { "id": "Q99436", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99436" } ] }, { "ec_number": "3.4.25.1", "activity": "", "evidence": [ { "id": "Q99436", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99436" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [ 364 ], "glycation_sites": [], "phosphorylation_sites": [ 303 ], "sequon_annotation_sites": [ { "start_pos": 71, "end_pos": 73 } ] }, "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": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": 38 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }