{ "uniprot_canonical_ac": "P05231-1", "uniprot_ac": "P05231", "uniprot_id": "IL6_HUMAN", "mass": { "chemical_mass": 23718.0, "monoisotopic_mass": 23718.0 }, "refseq": { "ac": "NP_000591", "name": "interleukin-6 isoform 1 precursor", "summary": "This gene encodes a cytokine that functions in inflammation and the maturation of B cells. In addition, the encoded protein has been shown to be an endogenous pyrogen capable of inducing fever in people with autoimmune diseases or infections. The protein is primarily produced at sites of acute and chronic inflammation, where it is secreted into the serum and induces a transcriptional inflammatory response through interleukin 6 receptor, alpha. The functioning of this gene is implicated in a wide variety of inflammation-associated disease states, including suspectibility to diabetes mellitus and systemic juvenile rheumatoid arthritis. Elevated levels of the encoded protein have been found in virus infections, including COVID-19 (disease caused by SARS-CoV-2). [provided by RefSeq, Aug 2020].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000591" }, "gene_names": [ { "name": "IL6", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P05231", "id": "P05231" }, { "name": "BSF-2; BSF2; CDF; HGF; HSF; IFN-beta-2; IFNB2; IL-6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000591", "id": "NP_000591" }, { "name": "IFNB2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P05231", "id": "P05231" }, { "name": "IL6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000591", "id": "NP_000591" } ], "protein_names": [ { "name": "Interleukin-6", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P05231" }, { "name": "B-cell stimulatory factor 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05231" }, { "name": "BSF-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05231" }, { "name": "CDF", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05231" }, { "name": "CTL differentiation factor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05231" }, { "name": "Hybridoma growth factor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05231" }, { "name": "IFN-beta-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05231" }, { "name": "IL-6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05231" }, { "name": "Interferon beta-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05231" }, { "name": "hybridoma growth factor; interleukin BSF-2; B-cell differentiation factor; CTL differentiation factor; interferon beta-2; B-cell stimulatory factor 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000591", "id": "NP_000591" }, { "name": "interleukin-6 isoform 1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000591", "id": "NP_000591" } ], "function": [ { "annotation": "Acts as an essential factor in bone homeostasis and on vessels directly or indirectly by induction of VEGF, resulting in increased angiogenesis activity and vascular permeability (PubMed:17075861, PubMed:12794819). Induces, through 'trans-signaling' and synergistically with IL1B and TNF, the production of VEGF (PubMed:12794819). Involved in metabolic controls, is discharged into the bloodstream after muscle contraction increasing lipolysis and improving insulin resistance (PubMed:20823453). 'Trans-signaling' in central nervous system also regulates energy and glucose homeostasis (By similarity). Mediates, through GLP-1, crosstalk between insulin-sensitive tissues, intestinal L cells and pancreatic islets to adapt to changes in insulin demand (By similarity). Also acts as a myokine (Probable). Plays a protective role during liver injury, being required for maintenance of tissue regeneration (By similarity). Also has a pivotal role in iron metabolism by regulating HAMP/hepcidin expression upon inflammation or bacterial infection (PubMed:15124018). Through activation of IL6ST-YAP-NOTCH pathway, induces inflammation-induced epithelial regeneration (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P05231", "url": "https://www.uniprot.org/uniprot/P05231#function" }, { "database": "UniProtKB", "id": "P08505", "url": "https://www.uniprot.org/uniprot/P08505#function" }, { "database": "PubMed", "id": "17075861", "url": "https://glygen.org/publication/PubMed/17075861" }, { "database": "PubMed", "id": "20823453", "url": "https://glygen.org/publication/PubMed/20823453" }, { "database": "PubMed", "id": "12794819", "url": "https://glygen.org/publication/PubMed/12794819" }, { "database": "PubMed", "id": "30995492", "url": "https://glygen.org/publication/PubMed/30995492" }, { "database": "PubMed", "id": "15124018", "url": "https://glygen.org/publication/PubMed/15124018" } ] }, { "annotation": "Can C-reactive protein be used as a surrogate marker of IL-6 in a broad array of clinical entities?", "evidence": [ { "database": "RefSeq", "id": "NP_000591", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000591" }, { "database": "PubMed", "id": "38235562", "url": "https://glygen.org/publication/PubMed/38235562" } ] }, { "annotation": "Cytokine with a wide variety of biological functions in immunity, tissue regeneration, and metabolism. Binds to IL6R, then the complex associates to the signaling subunit IL6ST/gp130 to trigger the intracellular IL6-signaling pathway (Probable). The interaction with the membrane-bound IL6R and IL6ST stimulates 'classic signaling', whereas the binding of IL6 and soluble IL6R to IL6ST stimulates 'trans-signaling'. Alternatively, 'cluster signaling' occurs when membrane-bound IL6:IL6R complexes on transmitter cells activate IL6ST receptors on neighboring receiver cells (Probable).", "evidence": [ { "database": "UniProtKB", "id": "P05231", "url": "https://www.uniprot.org/uniprot/P05231#function" }, { "database": "PubMed", "id": "30995492", "url": "https://glygen.org/publication/PubMed/30995492" } ] }, { "annotation": "IL-6 and SAA-Strong Predictors for the Outcome in COVID-19 CKD Patients. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000591", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000591" }, { "database": "PubMed", "id": "38203482", "url": "https://glygen.org/publication/PubMed/38203482" } ] }, { "annotation": "IL6 is a potent inducer of the acute phase response. Rapid production of IL6 contributes to host defense during infection and tissue injury, but excessive IL6 synthesis is involved in disease pathology. In the innate immune response, is synthesized by myeloid cells, such as macrophages and dendritic cells, upon recognition of pathogens through toll-like receptors (TLRs) at the site of infection or tissue injury (Probable). In the adaptive immune response, is required for the differentiation of B cells into immunoglobulin-secreting cells. Plays a major role in the differentiation of CD4(+) T cell subsets. Essential factor for the development of T follicular helper (Tfh) cells that are required for the induction of germinal-center formation. Required to drive naive CD4(+) T cells to the Th17 lineage. Also required for proliferation of myeloma cells and the survival of plasmablast cells (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P05231", "url": "https://www.uniprot.org/uniprot/P05231#function" }, { "database": "UniProtKB", "id": "P08505", "url": "https://www.uniprot.org/uniprot/P08505#function" }, { "database": "PubMed", "id": "30995492", "url": "https://glygen.org/publication/PubMed/30995492" } ] }, { "annotation": "MiR-26a-5p restoration via EZH2 silencing blocks the IL-6/STAT3 axis to repress the growth of prostate cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_000591", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000591" }, { "database": "PubMed", "id": "38155599", "url": "https://glygen.org/publication/PubMed/38155599" } ] }, { "annotation": "This gene encodes a cytokine that functions in inflammation and the maturation of B cells. In addition, the encoded protein has been shown to be an endogenous pyrogen capable of inducing fever in people with autoimmune diseases or infections. The protein is primarily produced at sites of acute and chronic inflammation, where it is secreted into the serum and induces a transcriptional inflammatory response through interleukin 6 receptor, alpha. The functioning of this gene is implicated in a wide variety of inflammation-associated disease states, including suspectibility to diabetes mellitus and systemic juvenile rheumatoid arthritis. Elevated levels of the encoded protein have been found in virus infections, including COVID-19 (disease caused by SARS-CoV-2). [provided by RefSeq, Aug 2020].", "evidence": [ { "database": "RefSeq", "id": "NP_000591", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000591" } ] }, { "annotation": "Traversing through the Mechanistic Event Analysis in IL-6 and IL-17 Signaling for a New Therapeutic Paradigm in NSCLC. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000591", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000591" }, { "database": "PubMed", "id": "38279220", "url": "https://glygen.org/publication/PubMed/38279220" } ] } ], "disease": [ { "disease_id": "DOID:676", "recommended_name": { "id": "DOID:676", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:676", "name": "juvenile rheumatoid arthritis", "description": "A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint." }, "synonyms": [ { "id": "DOID:676", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:676", "name": "Pauciarticular onset juvenile chronic arthritis", "description": "" }, { "id": "DOID:676", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:676", "name": "acute juvenile rheumatoid arthritis", "description": "" }, { "id": "DOID:676", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:676", "name": "juvenile chronic polyarthritis", "description": "" }, { "id": "DOID:676", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:676", "name": "juvenile idiopathic arthritis", "description": "" }, { "id": "DOID:676", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:676", "name": "monarticular juvenile rheumatoid arthritis", "description": "" }, { "id": "DOID:676", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:676", "name": "pauciarticular juvenile arthritis", "description": "" }, { "id": "DOID:676", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:676", "name": "systemic juvenile rheumatoid arthritis", "description": "" }, { "id": "DOID:676", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:676", "name": "Still's disease", "description": "" }, { "id": "MONDO:0011429", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011429", "name": "juvenile idiopathic arthritis", "description": "Juvenile idiopathic arthritis (JIA) is the term used to describe a group of inflammatory articular disorders of unknown cause that begin before the age of 16 and last over 6 weeks. The term juvenile idiopathic arthritis was chosen to signify the absence of any known mechanism underlying the disorder and to highlight the necessity of excluding other types of arthritis occurring in well defined diseases (in particular arthritis occurring in association with infectious, inflammatory and haematooncologic diseases)." }, { "id": "MONDO:0011429", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011429", "name": "JIA", "description": "" }, { "id": "MONDO:0011429", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011429", "name": "Juvenile idiopathic arthritis", "description": "" }, { "id": "MONDO:0011429", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011429", "name": "juvenile idiopathic arthritis", "description": "" }, { "id": "MONDO:0011429", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011429", "name": "juvenile rheumatoid arthritis", "description": "" }, { "id": "MONDO:0011429", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011429", "name": "rheumatoid arthritis, systemic juvenile, susceptibility to", "description": "" }, { "id": "MONDO:0011429", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011429", "name": "acute juvenile rheumatoid arthritis", "description": "" }, { "id": "MONDO:0011429", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011429", "name": "monarticular juvenile rheumatoid arthritis", "description": "" }, { "id": "MONDO:0011429", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011429", "name": "pauciarticular juvenile arthritis", "description": "" }, { "id": "MONDO:0011429", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011429", "name": "pauciarticular onset juvenile chronic arthritis", "description": "" }, { "id": "MONDO:0011429", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011429", "name": "systemic juvenile rheumatoid arthritis", "description": "" }, { "id": "MONDO:0011429", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011429", "name": "juvenile chronic arthritis", "description": "" }, { "id": "MONDO:0011429", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011429", "name": "juvenile chronic polyarthritis", "description": "" }, { "id": "MONDO:0011429", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011429", "name": "rheumatoid arthritis, systemic juvenile", "description": "" }, { "id": "MIM:604302", "resource": "MIM", "url": "https://www.omim.org/entry/604302", "name": "Rheumatoid arthritis systemic juvenile", "description": "Rheumatoid arthritis systemic juvenile" } ], "evidence": [ { "id": "604302", "database": "MIM", "url": "https://www.omim.org/entry/604302" } ] }, { "disease_id": "MONDO:0007845", "recommended_name": { "id": "MONDO:0007845", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007845", "name": "Kaposi sarcoma, susceptibility to", "description": "" }, "synonyms": [ { "id": "MONDO:0007845", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007845", "name": "Kaposi sarcoma, susceptibility to", "description": "" }, { "id": "MONDO:0007845", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007845", "name": "multicentric Castleman disease, susceptibility to", "description": "" }, { "id": "MONDO:0007845", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007845", "name": "multiple idiopathic pigmented hemangiosarcoma, susceptibility to", "description": "" }, { "id": "MONDO:0007845", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007845", "name": "susceptibility to Kaposi sarcoma", "description": "" } ], "evidence": [ { "id": "148000", "database": "MIM", "url": "https://www.omim.org/entry/148000" } ] } ], "snv": [ { "evidence": [ { "id": "rs776504834", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776504834" }, { "id": "rs776504834", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776504834" }, { "id": "rs776504834", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776504834#frequency_tab" }, { "id": "rs776504834", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776504834" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 133, "end_pos": 133, "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRF->NRS).", "chr_id": "7", "chr_pos": "22729587", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F133", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs769888477", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769888477" }, { "id": "rs769888477", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769888477" }, { "id": "rs769888477", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769888477" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 93, "end_pos": 93, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLP->NLS).", "chr_id": "7", "chr_pos": "22731439", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P93", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 173, "end_pos": 173, "sequence_org": "A", "sequence_mut": "V", "comment": "Almost no loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "P05231", "url": "https://www.uniprot.org/uniprot/P05231" }, { "database": "PubMed", "id": "2037043", "url": "https://glygen.org/publication/PubMed/2037043" } ] }, { "start_pos": 185, "end_pos": 185, "sequence_org": "W", "sequence_mut": "R", "comment": "No loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "P05231", "url": "https://www.uniprot.org/uniprot/P05231" }, { "database": "PubMed", "id": "2037043", "url": "https://glygen.org/publication/PubMed/2037043" } ] }, { "start_pos": 204, "end_pos": 204, "sequence_org": "S", "sequence_mut": "P", "comment": "87% loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "P05231", "url": "https://www.uniprot.org/uniprot/P05231" }, { "database": "PubMed", "id": "2037043", "url": "https://glygen.org/publication/PubMed/2037043" } ] }, { "start_pos": 210, "end_pos": 210, "sequence_org": "R", "sequence_mut": "A", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "P05231", "url": "https://www.uniprot.org/uniprot/P05231" }, { "database": "PubMed", "id": "2037043", "url": "https://glygen.org/publication/PubMed/2037043" } ] }, { "start_pos": 210, "end_pos": 210, "sequence_org": "R", "sequence_mut": "E", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "P05231", "url": "https://www.uniprot.org/uniprot/P05231" }, { "database": "PubMed", "id": "2037043", "url": "https://glygen.org/publication/PubMed/2037043" } ] }, { "start_pos": 210, "end_pos": 210, "sequence_org": "R", "sequence_mut": "K", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "P05231", "url": "https://www.uniprot.org/uniprot/P05231" }, { "database": "PubMed", "id": "2037043", "url": "https://glygen.org/publication/PubMed/2037043" } ] }, { "start_pos": 210, "end_pos": 210, "sequence_org": "R", "sequence_mut": "P", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "P05231", "url": "https://www.uniprot.org/uniprot/P05231" }, { "database": "PubMed", "id": "2037043", "url": "https://glygen.org/publication/PubMed/2037043" } ] }, { "start_pos": 210, "end_pos": 210, "sequence_org": "R", "sequence_mut": "Q", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "P05231", "url": "https://www.uniprot.org/uniprot/P05231" }, { "database": "PubMed", "id": "2037043", "url": "https://glygen.org/publication/PubMed/2037043" } ] }, { "start_pos": 210, "end_pos": 210, "sequence_org": "R", "sequence_mut": "T", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "P05231", "url": "https://www.uniprot.org/uniprot/P05231" }, { "database": "PubMed", "id": "2037043", "url": "https://glygen.org/publication/PubMed/2037043" } ] }, { "start_pos": 212, "end_pos": 212, "sequence_org": "M", "sequence_mut": "N", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "P05231", "url": "https://www.uniprot.org/uniprot/P05231" }, { "database": "PubMed", "id": "2037043", "url": "https://glygen.org/publication/PubMed/2037043" } ] }, { "start_pos": 212, "end_pos": 212, "sequence_org": "M", "sequence_mut": "R", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "P05231", "url": "https://www.uniprot.org/uniprot/P05231" }, { "database": "PubMed", "id": "2037043", "url": "https://glygen.org/publication/PubMed/2037043" } ] }, { "start_pos": 212, "end_pos": 212, "sequence_org": "M", "sequence_mut": "S", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "P05231", "url": "https://www.uniprot.org/uniprot/P05231" }, { "database": "PubMed", "id": "2037043", "url": "https://glygen.org/publication/PubMed/2037043" } ] }, { "start_pos": 212, "end_pos": 212, "sequence_org": "M", "sequence_mut": "T", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "P05231", "url": "https://www.uniprot.org/uniprot/P05231" }, { "database": "PubMed", "id": "2037043", "url": "https://glygen.org/publication/PubMed/2037043" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "63.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136244", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136244" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "51.85", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136244", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136244" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "62.63", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136244", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136244" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136244", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136244" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "65.78", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136244", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136244" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "80.43", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136244", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136244" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": 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"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 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