{ "uniprot_canonical_ac": "P05019-1", "uniprot_ac": "P05019", "uniprot_id": "IGF1_HUMAN", "mass": { "chemical_mass": 21841.0, "monoisotopic_mass": 21841.0 }, "refseq": { "ac": "NP_000609", "name": "insulin-like growth factor I isoform 4 preproprotein", "summary": "The protein encoded by this gene is similar to insulin in function and structure and is a member of a family of proteins involved in mediating growth and development. The encoded protein is processed from a precursor, bound by a specific receptor, and secreted. Defects in this gene are a cause of insulin-like growth factor I deficiency. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Sep 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000609" }, "gene_names": [ { "name": "IGF1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P05019", "id": "P05019" }, { "name": "IBP1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P05019", "id": "P05019" }, { "name": "IGF1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000609", "id": "NP_000609" }, { "name": "IGF; IGF-I; IGFI; MGF", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000609", "id": "NP_000609" } ], "protein_names": [ { "name": "Insulin-like growth factor I", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P05019" }, { "name": "IGF-I", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05019" }, { "name": "MGF", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05019" }, { "name": "Mechano growth factor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05019" }, { "name": "Somatomedin-C", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05019" }, { "name": "insulin-like growth factor I isoform 4 preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000609", "id": "NP_000609" }, { "name": "insulin-like growth factor IB; somatomedin-C; mechano growth factor; insulin-like growth factor 1 (somatomedin C)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000609", "id": "NP_000609" } ], "function": [ { "annotation": "IGF/IGF-1R signal pathway in pain: a promising therapeutic target. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000609", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000609" }, { "database": "PubMed", "id": "37497005", "url": "https://glygen.org/publication/PubMed/37497005" } ] }, { "annotation": "Insulin-like Growth Factor-1 Synergizes with IL-2 to Induce Homeostatic Proliferation of Regulatory T Cells.", "evidence": [ { "database": "RefSeq", "id": "NP_000609", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000609" }, { "database": "PubMed", "id": "37594278", "url": "https://glygen.org/publication/PubMed/37594278" } ] }, { "annotation": "Pannexin 1 Modulates Angiogenic Activities of Human Endothelial Colony-Forming Cells Through IGF-1 Mechanism and Is a Marker of Senescence.", "evidence": [ { "database": "RefSeq", "id": "NP_000609", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000609" }, { "database": "PubMed", "id": "37589139", "url": "https://glygen.org/publication/PubMed/37589139" } ] }, { "annotation": "The AR/miR-221/IGF-1 pathway mediates the pathogenesis of androgenetic alopecia. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000609", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000609" }, { "database": "PubMed", "id": "37496996", "url": "https://glygen.org/publication/PubMed/37496996" } ] }, { "annotation": "The insulin-like growth factors, isolated from plasma, are structurally and functionally related to insulin but have a much higher growth-promoting activity. May be a physiological regulator of [1-14C]-2-deoxy-D-glucose (2DG) transport and glycogen synthesis in osteoblasts. Stimulates glucose transport in bone-derived osteoblastic (PyMS) cells and is effective at much lower concentrations than insulin, not only regarding glycogen and DNA synthesis but also with regard to enhancing glucose uptake. May play a role in synapse maturation (PubMed:21076856, PubMed:24132240). Ca(2+)-dependent exocytosis of IGF1 is required for sensory perception of smell in the olfactory bulb (By similarity). Acts as a ligand for IGF1R. Binds to the alpha subunit of IGF1R, leading to the activation of the intrinsic tyrosine kinase activity which autophosphorylates tyrosine residues in the beta subunit thus initiatiating a cascade of down-stream signaling events leading to activation of the PI3K-AKT/PKB and the Ras-MAPK pathways. Binds to integrins ITGAV:ITGB3 and ITGA6:ITGB4. Its binding to integrins and subsequent ternary complex formation with integrins and IGFR1 are essential for IGF1 signaling. Induces the phosphorylation and activation of IGFR1, MAPK3/ERK1, MAPK1/ERK2 and AKT1 (PubMed:19578119, PubMed:22351760, PubMed:23696648, PubMed:23243309).", "evidence": [ { "database": "UniProtKB", "id": "P05019", "url": "https://www.uniprot.org/uniprot/P05019#function" }, { "database": "PubMed", "id": "24132240", "url": "https://glygen.org/publication/PubMed/24132240" }, { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprot/P05017#function" }, { "database": "PubMed", "id": "21076856", "url": "https://glygen.org/publication/PubMed/21076856" }, { "database": "PubMed", "id": "23243309", "url": "https://glygen.org/publication/PubMed/23243309" }, { "database": "PubMed", "id": "23696648", "url": "https://glygen.org/publication/PubMed/23696648" }, { "database": "PubMed", "id": "19578119", "url": "https://glygen.org/publication/PubMed/19578119" }, { "database": "PubMed", "id": "22351760", "url": "https://glygen.org/publication/PubMed/22351760" } ] }, { "annotation": "The protein encoded by this gene is similar to insulin in function and structure and is a member of a family of proteins involved in mediating growth and development. The encoded protein is processed from a precursor, bound by a specific receptor, and secreted. Defects in this gene are a cause of insulin-like growth factor I deficiency. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Sep 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_000609", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000609" } ] }, { "annotation": "The regulation of human organic anion transporter 4 by insulin-like growth factor 1 and protein kinase B signaling.", "evidence": [ { "database": "RefSeq", "id": "NP_000609", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000609" }, { "database": "PubMed", "id": "37487877", "url": "https://glygen.org/publication/PubMed/37487877" } ] } ], "disease": [ { "disease_id": "MONDO:0012110", "recommended_name": { "id": "MONDO:0012110", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012110", "name": "growth delay due to insulin-like growth factor type 1 deficiency", "description": "Growth delay due to insulin-like growth factor I deficiency is characterized by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit." }, "synonyms": [ { "id": "MONDO:0012110", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012110", "name": "IGF-1 deficiency", "description": "" }, { "id": "MONDO:0012110", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012110", "name": "growth delay-deafness- intellectual disability syndrome", "description": "" }, { "id": "MONDO:0012110", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012110", "name": "growth retardation with deafness and mental retardation due to IGF1 deficiency", "description": "" }, { "id": "MONDO:0012110", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012110", "name": "primary insulin-like growth factor deficiency", "description": "" }, { "id": "MONDO:0012110", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012110", "name": "IGF1 deficiency", "description": "" }, { "id": "MONDO:0012110", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012110", "name": "growth retardation with sensorineural deafness and intellectual disability", "description": "" }, { "id": "MONDO:0012110", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012110", "name": "growth retardation with sensorineural deafness and mental retardation", "description": "" }, { "id": "MONDO:0012110", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012110", "name": "insulin-like growth Factor 1 deficiency", "description": "" }, { "id": "MONDO:0012110", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012110", "name": "insulin-like growth factor I deficiency", "description": "" }, { "id": "MIM:608747", "resource": "MIM", "url": "https://www.omim.org/entry/608747", "name": "Insulin-like growth factor I deficiency", "description": "Insulin-like growth factor I deficiency" } ], "evidence": [ { "id": "608747", "database": "MIM", "url": "https://www.omim.org/entry/608747" } ] } ], "snv": [ { "evidence": [ { "id": "P05019", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P05019" } ], "glycoeffect": [], "start_pos": 98, "end_pos": 98, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "102419618", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R98", "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" } ] }, { "disease_id": "DOID:1115", "recommended_name": { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "sarcoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm." }, "synonyms": [ { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "connective and soft tissue neoplasm", "description": "" }, { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "tumor of soft tissue and skeleton", "description": "" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [ { "start_pos": 84, "end_pos": 84, "sequence_org": "R", "sequence_mut": "E", "comment": "Dominant-negative mutant, no effect on IGFR1-binding, defective in integrin-binding and the formation of ternary complex with integrins and IGFR1, defective in inducing IGF1 signaling and cell proliferation, and suppresses activation of IGF1R by insulin and tumorigenesis in vivo; when associated with E-85.", "evidence": [ { "database": "UniProtKB", "id": "P05019", "url": "https://www.uniprot.org/uniprot/P05019" }, { "database": "PubMed", "id": "23243309", "url": "https://glygen.org/publication/PubMed/23243309" }, { "database": "PubMed", "id": "23696648", "url": "https://glygen.org/publication/PubMed/23696648" }, { "database": "PubMed", "id": "19578119", "url": "https://glygen.org/publication/PubMed/19578119" }, { "database": "PubMed", "id": "22351760", "url": "https://glygen.org/publication/PubMed/22351760" } ] }, { "start_pos": 85, "end_pos": 85, "sequence_org": "R", "sequence_mut": "E", "comment": "Dominant-negative mutant, no effect on IGFR1-binding, defective in integrin-binding and the formation of ternary complex with integrins and IGFR1, defective in inducing IGF1 signaling and cell proliferation, and suppresses activation of IGF1R by insulin and tumorigenesis in vivo; when associated with E-84.", "evidence": [ { "database": "UniProtKB", "id": "P05019", "url": "https://www.uniprot.org/uniprot/P05019" }, { "database": "PubMed", "id": "23243309", "url": "https://glygen.org/publication/PubMed/23243309" }, { "database": "PubMed", "id": "23696648", "url": "https://glygen.org/publication/PubMed/23696648" }, { "database": "PubMed", "id": "19578119", "url": "https://glygen.org/publication/PubMed/19578119" }, { "database": "PubMed", "id": "22351760", "url": "https://glygen.org/publication/PubMed/22351760" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "74.54", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000017427", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000017427" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "77.28", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000017427", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000017427" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "79.64", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000017427", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000017427" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "96.58", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000017427", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000017427" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "91.95", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000017427", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000017427" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "80.57", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000017427", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000017427" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "83.95", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000017427", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000017427" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "82.42", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000017427", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000017427" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "86.61", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000017427", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000017427" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "83.28", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000017427", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000017427" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "94.76", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000017427", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000017427" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "88.87", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000017427", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000017427" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "87.78", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000017427", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000017427" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P05019", "url": 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"" }, { "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", 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"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": 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"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, 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"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": 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"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" 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