{ "uniprot_canonical_ac": "A3QPB9-1", "uniprot_ac": "A3QPB9", "uniprot_id": "IL21_RAT", "mass": { "chemical_mass": 17065.0, "monoisotopic_mass": 17065.0 }, "refseq": { "ac": "NP_001102413", "name": "interleukin-21 precursor", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001102413" }, "gene_names": [ { "name": "Il21", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A3QPB9", "id": "A3QPB9" }, { "name": "IL-21", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001102413", "id": "NP_001102413" }, { "name": "Il21", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001102413", "id": "NP_001102413" } ], "protein_names": [ { "name": "Interleukin-21", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A3QPB9" }, { "name": "IL-21", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A3QPB9" }, { "name": "interleukin-21 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001102413", "id": "NP_001102413" } ], "function": [ { "annotation": "Cytokine with immunoregulatory activity. May promote the transition between innate and adaptive immunity. Induces the production of IgG(1) and IgG(3) in B-cells. Implicated in the generation and maintenance of T follicular helper (Tfh) cells and the formation of germinal-centers. Together with IL6, control the early generation of Tfh cells and are critical for an effective antibody response to acute viral infection (By similarity). May play a role in proliferation and maturation of natural killer (NK) cells in synergy with IL15. May regulate proliferation of mature B- and T-cells in response to activating stimuli. In synergy with IL15 and IL18 stimulates interferon gamma production in T-cells and NK cells (By similarity). During T-cell mediated immune response may inhibit dendritic cells (DC) activation and maturation (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "A3QPB9", "url": "https://www.uniprot.org/uniprot/A3QPB9#function" }, { "database": "UniProtKB", "id": "Q9HBE4", "url": "https://www.uniprot.org/uniprot/Q9HBE4#function" }, { "database": "UniProtKB", "id": "Q9ES17", "url": "https://www.uniprot.org/uniprot/Q9ES17#function" } ] } ], "disease": [ { "disease_id": "DOID:0081153", "recommended_name": { "id": "DOID:0081153", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081153", "name": "common variable immunodeficiency 11", "description": "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the IL21 gene on chromosome 4q27." }, "synonyms": [ { "id": "MONDO:0014338", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014338", "name": "IL21-related infantile inflammatory bowel disease", "description": "" }, { "id": "MONDO:0014338", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014338", "name": "IL21-related infantile IBD", "description": "" }, { "id": "MONDO:0014338", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014338", "name": "immunodeficiency, common variable, type 11", "description": "" }, { "id": "MONDO:0014338", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014338", "name": "CVID11", "description": "" }, { "id": "MONDO:0014338", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014338", "name": "IL21 deficiency", "description": "" }, { "id": "MONDO:0014338", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014338", "name": "immunodeficiency, common variable, 11", "description": "" }, { "id": "MIM:615767", "resource": "MIM", "url": "https://www.omim.org/entry/615767", "name": "Immunodeficiency, common variable, 11", "description": "Immunodeficiency, common variable, 11" } ], "evidence": [ { "id": "0081153", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0081153" } ] }, { "disease_id": "DOID:10608", "recommended_name": { "id": "DOID:10608", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10608", "name": "celiac disease", "description": "An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite." }, "synonyms": [ { "id": "DOID:10608", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10608", "name": "celiac sprue", "description": "" }, { "id": "DOID:10608", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10608", "name": "coeliac disease", "description": "" }, { "id": "DOID:10608", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10608", "name": "idiopathic steatorrhea", "description": "" }, { "id": "MONDO:0012780", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012780", "name": "celiac disease, susceptibility to, 11", "description": "" }, { "id": "MONDO:0012780", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012780", "name": "CELIAC11", "description": "" }, { "id": "MONDO:0012780", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012780", "name": "celiac disease, susceptibility to, 11", "description": "" }, { "id": "MONDO:0012780", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012780", "name": "gluten-sensitive enteropathy, susceptibility to, 11", "description": "" }, { "id": "MONDO:0012779", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012779", "name": "celiac disease, susceptibility to, 10", "description": "" }, { "id": "MONDO:0012779", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012779", "name": "CELIAC10", "description": "" }, { "id": "MONDO:0012779", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012779", "name": "celiac disease, susceptibility to, 10", "description": "" }, { "id": "MONDO:0012779", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012779", "name": "gluten-sensitive enteropathy, susceptibility to, 10", "description": "" }, { "id": "MONDO:0012778", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012778", "name": "celiac disease, susceptibility to, 9", "description": "" }, { "id": "MONDO:0012778", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012778", "name": "CELIAC9", "description": "" }, { "id": "MONDO:0012778", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012778", "name": "celiac disease, susceptibility to, 9", "description": "" }, { "id": "MONDO:0012778", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012778", "name": "gluten-sensitive enteropathy, susceptibility to, 9", "description": "" }, { "id": "MONDO:0012777", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012777", "name": "celiac disease, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012777", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012777", "name": "CELIAC8", "description": "" }, { "id": "MONDO:0012777", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012777", "name": "celiac disease, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012777", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012777", "name": "gluten-sensitive enteropathy, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012776", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012776", "name": "celiac disease, susceptibility to, 7", "description": "" }, { "id": "MONDO:0012776", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012776", "name": "CELIAC7", "description": "" }, { "id": "MONDO:0012776", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012776", "name": "celiac disease, susceptibility to, 7", "description": "" }, { "id": "MONDO:0012776", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012776", "name": "gluten-sensitive enteropathy, susceptibility to, 7", "description": "" }, { "id": "MONDO:0011793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011793", "name": "celiac disease, susceptibility to, 5", "description": "" }, { "id": "MONDO:0011793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011793", "name": "CELIAC5", "description": "" }, { "id": "MONDO:0011793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011793", "name": "celiac disease, susceptibility to, 5", "description": "" }, { "id": "MONDO:0011793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011793", "name": "GSES", "description": "" }, { "id": "MONDO:0011793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011793", "name": "gluten-sensitive enteropathy, susceptibility to, 5", "description": "" }, { "id": "MONDO:0012782", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012782", "name": "celiac disease, susceptibility to, 13", "description": "" }, { "id": "MONDO:0012782", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012782", "name": "CELIAC13", "description": "" }, { "id": "MONDO:0012782", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012782", "name": "celiac disease, susceptibility to, 13", "description": "" }, { "id": "MONDO:0012782", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012782", "name": "gluten-sensitive enteropathy, susceptibility to, 13", "description": "" }, { "id": "MONDO:0012340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012340", "name": "celiac disease, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012340", "name": "CELIAC2", "description": "" }, { "id": "MONDO:0012340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012340", "name": "celiac disease, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012340", "name": "gluten-sensitive enteropathy, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012702", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012702", "name": "celiac disease, susceptibility to, 6", "description": "" }, { "id": "MONDO:0012702", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012702", "name": "CELIAC6", "description": "" }, { "id": "MONDO:0012702", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012702", "name": "celiac disease, susceptibility to, 6", "description": "" }, { "id": "MONDO:0012702", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012702", "name": "autoimmune disease, susceptibility to, 5", "description": "" }, { "id": "MONDO:0012702", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012702", "name": "gluten-sensitive enteropathy, susceptibility to, 6", "description": "" }, { "id": "MIM:612011", "resource": "MIM", "url": "https://www.omim.org/entry/612011", "name": "Celiac disease 13", "description": "Celiac disease 13" } ], "evidence": [ { "id": "10608", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10608" } ] }, { "disease_id": "DOID:11168", "recommended_name": { "id": "DOID:11168", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11168", "name": "anogenital venereal wart", "description": "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts." }, "synonyms": [ { "id": "DOID:11168", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11168", "name": "Anogenital warts", "description": "" }, { "id": "DOID:11168", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11168", "name": "Genital warts", "description": "" }, { "id": "DOID:11168", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11168", "name": "Anogenital Human papilloma Virus Infectious Disease", "description": "" }, { "id": "DOID:11168", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11168", "name": "genital wart virus infectious disease", "description": "" }, { "id": "DOID:11168", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11168", "name": "venereal wart", "description": "" } ], "evidence": [ { "id": "11168", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11168" } ] }, { "disease_id": "DOID:12206", "recommended_name": { "id": "DOID:12206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12206", "name": "dengue hemorrhagic fever", "description": "A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever." }, "synonyms": [ { "id": "DOID:12206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12206", "name": "DHF", "description": "" } ], "evidence": [ { "id": "12206", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12206" } ] }, { "disease_id": "DOID:2048", "recommended_name": { "id": "DOID:2048", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2048", "name": "autoimmune hepatitis", "description": "An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells." }, "synonyms": [ { "id": "DOID:2048", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2048", "name": "Autoimmune chronic active hepatitis", "description": "" }, { "id": "DOID:2048", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2048", "name": "autoimmune hepatitis with centrilobular necrosis", "description": "" } ], "evidence": [ { "id": "2048", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2048" } ] }, { "disease_id": "DOID:2841", "recommended_name": { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing." }, "synonyms": [ { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "Exercise induced asthma", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "bronchial hyperreactivity", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "chronic obstructive asthma", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "chronic obstructive asthma with acute exacerbation", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "chronic obstructive asthma with status asthmaticus", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "exercise-induced asthma", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "inherited susceptibility to asthma", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, nocturnal, susceptibility to", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, bronchial", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, diminished response to Antileukotriene treatment 1N", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, protection against", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, susceptibility to", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma-related traits, susceptibility to", "description": "" }, { "id": "MIM:600807", "resource": "MIM", "url": "https://www.omim.org/entry/600807", "name": "Asthma", "description": "Asthma" } ], "evidence": [ { "id": "2841", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ] }, { "disease_id": "DOID:321", "recommended_name": { "id": "DOID:321", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:321", "name": "tropical spastic paraparesis", "description": "A viral infectious disease that results in inflammation located in spinal cord, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted by sexual contact, and transmitted by breast feeding. The infection has symptom spastic weakness of both legs, has symptom muscle stiffness, has symptom sensory disturbance, and has symptom spasms." }, "synonyms": [ { "id": "DOID:321", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:321", "name": "HTLV-associated myelopathy", "description": "" }, { "id": "DOID:321", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:321", "name": "Tropical spastic paralysis", "description": "" }, { "id": "DOID:321", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:321", "name": "Tropical spastic paraplegia", "description": "" }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "tropical spastic paraparesis", "description": "Tropical spastic paraparesis is a chronic systemic immune-mediated inflammatory myeloneuropathy, more frequently reported in women than in men, that usually presents in adulthood with slowly progressive spastic paraparesis of the lower limbs, bladder and bowel dysfunction, and sensory disturbances in the lower extremities (e.g. paresthesia and dysesthesia) and that is associated with a human T-cell lymphotropic virus type 1 (HTLV-1) infection." }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "HTLV-1-associated myelopathy/tropical spastic paraparesis", "description": "" }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "HTLV-associated myelopathy", "description": "" }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "Human T-lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis", "description": "" }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "Human T-lymphotropic virus type-1-associated myelopathy/tropical spastic paraparesis", "description": "" }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "TSP", "description": "" }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "ham/TSP", "description": "" }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "tropical spastic paralysis", "description": "" }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "tropical spastic paraplegia", "description": "" }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "HTLV-1 associated myelopathy/tropical spastic paraparesis", "description": "" }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "Human T-cell leukaemia virus type 1 associated myelopathy/tropical spastic paraparesis", "description": "" }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "Human T-cell leukemia virus type 1 associated myelopathy/tropical spastic paraparesis", "description": "" }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "familial spastic paraparesis, HTLV-1-associated", "description": "" }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "ham", "description": "" }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "myelopathy, HTLV-1-associated", "description": "" }, { "id": "MONDO:0008039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008039", "name": "tropical spastic paraparesis (formerly)", "description": "" } ], "evidence": [ { "id": "321", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:321" } ] }, { "disease_id": "DOID:3388", "recommended_name": { "id": "DOID:3388", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3388", "name": "periodontal disease", "description": "A mouth disease that is relating to or affecting the structures surrounding and supporting the teeth." }, "synonyms": [ { "id": "DOID:3388", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3388", "name": "disease of supporting structures of teeth", "description": "" }, { "id": "DOID:3388", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3388", "name": "periodontium disorder", "description": "" } ], "evidence": [ { "id": "3388", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3388" } ] }, { "disease_id": "DOID:5082", "recommended_name": { "id": "DOID:5082", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5082", "name": "liver cirrhosis", "description": "" }, "synonyms": [ { "id": "DOID:5082", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5082", "name": "Cirrhosis", "description": "" }, { "id": "DOID:5082", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5082", "name": "cirrhosis of liver", "description": "" }, { "id": "MONDO:0005155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005155", "name": "cirrhosis of liver", "description": "A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholism, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy." }, { "id": "MONDO:0005155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005155", "name": "cirrhosis", "description": "" }, { "id": "MONDO:0005155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005155", "name": "cirrhosis of liver", "description": "" }, { "id": "MONDO:0005155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005155", "name": "liver cirrhosis", "description": "" } ], "evidence": [ { "id": "5082", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ] }, { "disease_id": "DOID:526", "recommended_name": { "id": "DOID:526", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands." }, "synonyms": [ { "id": "DOID:526", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:526", "name": "HIV infection", "description": "" } ], "evidence": [ { "id": "526", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:526" } ] }, { "disease_id": "DOID:684", "recommended_name": { "id": "DOID:684", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver." }, "synonyms": [ { "id": "DOID:684", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:684", "name": "Hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "HCC", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "cancer, hepatocellular", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma, hepatocellular, malignant", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular adenocarcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, childhood type, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell cancer (hepatocellular carcinoma)", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult primary hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma caused by somatic mutation", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver and intrahepatic bile duct carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "HCC", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "cancer, hepatocellular", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma, hepatocellular, malignant", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular adenocarcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, childhood type, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell cancer (hepatocellular carcinoma)", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult primary hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma caused by somatic mutation", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver and intrahepatic bile duct carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cancer", "description": "" }, { "id": "MIM:114550", "resource": "MIM", "url": "https://www.omim.org/entry/114550", "name": "Hepatocellular carcinoma", "description": "Hepatocellular carcinoma" } ], "evidence": [ { "id": "684", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:684" } ] }, { "disease_id": "DOID:8869", "recommended_name": { "id": "DOID:8869", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8869", "name": "neuromyelitis optica", "description": "A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis)." }, "synonyms": [ { "id": "DOID:8869", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8869", "name": "Devic's disease", "description": "" }, { "id": "DOID:8869", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8869", "name": "Devic's syndrome", "description": "" } ], "evidence": [ { "id": "8869", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8869" } ] }, { "disease_id": "DOID:9074", "recommended_name": { "id": "DOID:9074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart." }, "synonyms": [ { "id": "DOID:9074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9074", "name": "Lupus Erythematosus, systemic", "description": "" }, { "id": "DOID:9074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9074", "name": "SLE - Lupus Erythematosus, systemic", "description": "" }, { "id": "DOID:9074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9074", "name": "disseminated lupus erythematosus", "description": "" }, { "id": "MONDO:0012361", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012361", "name": "systemic lupus erythematosus, susceptibility to, 5", "description": "" }, { "id": "MONDO:0012361", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012361", "name": "SLEB5", "description": "" }, { "id": "MONDO:0012361", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012361", "name": "systemic lupus erythematosus, susceptibility to, 5", "description": "" }, { "id": "MONDO:0012404", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012404", "name": "systemic lupus erythematosus, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012404", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012404", "name": "SLEB8", "description": "" }, { "id": "MONDO:0012404", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012404", "name": "systemic lupus erythematosus, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012403", "name": "systemic lupus erythematosus, susceptibility to, 7", "description": "" }, { "id": "MONDO:0012403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012403", "name": "SLEB7", "description": "" }, { "id": "MONDO:0012403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012403", "name": "systemic lupus erythematosus, susceptibility to, 7", "description": "" }, { "id": "MONDO:0012836", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012836", "name": "systemic lupus erythematosus, susceptibility to, 12", "description": "" }, { "id": "MONDO:0012836", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012836", "name": "SLEB12", "description": "" }, { "id": "MONDO:0012836", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012836", "name": "systemic lupus erythematosus, susceptibility to, 12", "description": "" }, { "id": "MONDO:0013152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013152", "name": "systemic lupus erythematosus, susceptibility to, 14", "description": "" }, { "id": "MONDO:0013152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013152", "name": "SLEB14", "description": "" }, { "id": "MONDO:0013152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013152", "name": "systemic lupus erythematosus, susceptibility to, 14", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus", "description": "An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific." }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "SLE", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "SLE - lupus erythematosus, systemic", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "disseminated lupus erythematosus", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "lupus erythematosus, systemic", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus (disease)", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus susceptibility to", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus, susceptibility to", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "excess LMW-DNA", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "excess lymphocyte low molecular weight DNA", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "lupus nephritis, susceptibility to", "description": "" }, { "id": "MONDO:0010433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010433", "name": "systemic lupus erythematosus, susceptibility to, 15", "description": "" }, { "id": "MONDO:0010433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010433", "name": "SLEB15", "description": "" }, { "id": "MONDO:0010433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010433", "name": "systemic lupus erythematosus, susceptibility to, 15", "description": "" }, { "id": "MONDO:0012036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012036", "name": "systemic lupus erythematosus, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012036", "name": "SLEB4", "description": "" }, { "id": "MONDO:0012036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012036", "name": "systemic lupus erythematosus, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012369", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012369", "name": "systemic lupus erythematosus, susceptibility to, 6", "description": "" }, { "id": "MONDO:0012369", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012369", "name": "SLEB6", "description": "" }, { "id": "MONDO:0012369", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012369", "name": "systemic lupus erythematosus, susceptibility to, 6", "description": "" }, { "id": "MONDO:0012884", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012884", "name": "systemic lupus erythematosus, susceptibility to, 13", "description": "" }, { "id": "MONDO:0012884", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012884", "name": "SLEB13", "description": "" }, { "id": "MONDO:0012884", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012884", "name": "systemic lupus erythematosus, susceptibility to, 13", "description": "" }, { "id": "MONDO:0011560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011560", "name": "systemic lupus erythematosus, susceptibility to, 3", "description": "" }, { "id": "MONDO:0011560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011560", "name": "SLEB3", "description": "" }, { "id": "MONDO:0011560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011560", "name": "systemic lupus erythematosus, susceptibility to, 3", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "autosomal systemic lupus erythematosus type 16", "description": "An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3." }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "autosomal SLE", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "familial SLE", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "familial systemic lupus erythematosus", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "SLEB16", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "systemic lupus erythematosus 16", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "systemic lupus erythematosus type 16", "description": "" }, { "id": "MIM:152700", "resource": "MIM", "url": "https://www.omim.org/entry/152700", "name": "Systemic lupus erythematosus", "description": "Systemic lupus erythematosus" }, { "id": "MIM:609939", "resource": "MIM", "url": "https://www.omim.org/entry/609939", "name": "Systemic lupus erythematosus 6", "description": "Systemic lupus erythematosus 6" }, { "id": "MIM:614420", "resource": "MIM", "url": "https://www.omim.org/entry/614420", "name": "Systemic lupus erythematosus 16", "description": "Systemic lupus erythematosus 16" } ], "evidence": [ { "id": "9074", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "A3QPB9", "url": "https://www.uniprot.org/uniprot/A3QPB9" } ], "common_name": "Rat" } ], "gene": [ { "name": "Il21", "url": "https://www.uniprot.org/uniprot/A3QPB9", "locus": { "chromosome": "2", "start_pos": 120119444, "end_pos": 120126996, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSRNOG00000017376", "url": "https://www.ensembl.org/id/ENSRNOG00000017376" } ] } } ], "crossref": [ { "id": "ENSRNOG00000017376", "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000017376", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "365769", "url": "https://www.ncbi.nlm.nih.gov/gene/365769", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "IPR003443", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003443", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR009079", "url": "https://www.ebi.ac.uk/interpro/entry/IPR009079", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "rno:365769", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:365769", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "MIHQHLR", "url": "https://omabrowser.org/oma/group/MIHQHLR/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "4440444at2759", "url": "http://www.orthodb.org/?query=4440444at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR14356", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14356", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR14356:SF2", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14356:SF2", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF02372", "url": "http://pfam.xfam.org/family/PF02372", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_A3QPB9", "url": "http://purl.obolibrary.org/obo/PR_A3QPB9", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-RNO-9020958", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-9020958", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001102413", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001102413", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "1307384", "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=1307384", "database": "RGD", "categories": [ "Organism-specific" ] }, { "id": "A0A8L2QC17", "url": "https://www.uniprot.org/uniprot/A0A8L2QC17", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8L2QC17-1", "url": "https://www.uniprot.org/uniprot/A0A8L2QC17-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A3QPB9", "url": "https://www.uniprot.org/uniprot/A3QPB9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A3QPB9-1", "url": "https://www.uniprot.org/uniprot/A3QPB9-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MERTLVCLILIFLGTVAHKSSPQRPDHLLIRLRHLMDIVEQLKIYENDLDPELLTAPQDVKGQCEHEAFACFQKAKLKPSNTGNNKTFINDLLAQLRRRLPAKRTGNKQRHMAKCPSCDLYEKKTPKEFLERLKWLLQKMIHQHLS", "length": 146, "header": "sp|A3QPB9-1|IL21_RAT Isoform 1 of Interleukin-21 OS=Rattus norvegicus OX=10116 GN=Il21 PE=2 SV=1 CANONICAL=A3QPB9-1" }, "isoforms": [ { "isoform_ac": "A0A8L2QC17-1", "url": "", "sequence": { "sequence": "MERTLVCLILIFLGTVAHKSSPQRPDHLLIRLRHLMDIVEQLKIYENDLDPELLTAPQDVKGQCEHEAFACFQKAKLKPSNTGNNKTFINDLLAQLRRRLPAKRTGNKQRHMAKCPSCDLYEKKTPKEFLERLKWLLQKVSLNEFLSLPYCLRVPLVPSDSQ", "length": 162, "header": "tr|A0A8L2QC17-1|IL21_RAT Computationally mapped isoform of Interleukin-21 OS=Rattus norvegicus OX=10116 GN=Il21 PE=2 SV=1 CANONICAL=A3QPB9-1" }, "locus": { "chromosome": "2", "start_pos": 120126941, "end_pos": 120119638, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000023348.5", "url": "https://www.ensembl.org/id/ENSRNOT00000023348.5" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000023348.5", "url": "https://www.ensembl.org/id/ENSRNOP00000023348.5" } ] } }, { "isoform_ac": "A3QPB9-1", "url": "", "sequence": { "sequence": "MERTLVCLILIFLGTVAHKSSPQRPDHLLIRLRHLMDIVEQLKIYENDLDPELLTAPQDVKGQCEHEAFACFQKAKLKPSNTGNNKTFINDLLAQLRRRLPAKRTGNKQRHMAKCPSCDLYEKKTPKEFLERLKWLLQKMIHQHLS", "length": 146, "header": "sp|A3QPB9-1|IL21_RAT Isoform 1 of Interleukin-21 OS=Rattus norvegicus OX=10116 GN=Il21 PE=2 SV=1 CANONICAL=A3QPB9-1" }, "locus": { "chromosome": "2", "start_pos": 120126941, "end_pos": 120119601, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000110753", "url": "https://www.ensembl.org/id/ENSRNOT00000110753" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000097142", "url": "https://www.ensembl.org/id/ENSRNOP00000097142" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 85, "start_aa": "Asn", "end_pos": 85, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn85", "evidence": [ { "id": "A3QPB9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A3QPB9#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [], "pathway": [ { "id": "rno:365769", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:365769", "resource": "KEGG Pathway" }, { "id": "R-RNO-9020958", "name": "Interleukin-21 signaling", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-9020958", "resource": "Reactome", "description": "Interleukin-21 signaling" } ], "orthologs": [ { "uniprot_canonical_ac": "Q9ES17-1", "protein_name": "Interleukin-21", "gene_name": "Il21", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MERTLVCLVVIFLGTVAHKSSPQGPDRLLIRLRHLIDIVEQLKIYENDLDPELLSAPQDVKGHCEHAAFACFQKAKLKPSNPGNNKTFIIDLVAQLRRRLPARRGGKKQKHIAKCPSCDSYEKRTPKEFLERLKWLLQKMIHQHLS", "length": 146 }, "evidence": [ { "id": "45231533", "url": "http://www.informatics.jax.org/homology/45231533", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9HBE4-1", "protein_name": "Interleukin-21", "gene_name": "IL21", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MRSSPGNMERIVICLMVIFLGTLVHKSSSQGQDRHMIRMRQLIDIVDQLKNYVNDLVPEFLPAPEDVETNCEWSAFSCFQKAQLKSANTGNNERIINVSIKKLKRKPPSTNAGRRQKHRLTCPSCDSYEKKPPKEFLERFKSLLQKMIHQHLSSRTHGSEDS", "length": 162 }, "evidence": [ { "id": "45231533", "url": "http://www.informatics.jax.org/homology/45231533", "database": "MGI" } ], "common_name": "Human" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 20, "go_terms": [ { "name": "positive regulation of interleukin-17 production", "id": "GO:0032740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032740", "evidence": [ { "database": "UniProtKB", "id": "A3QPB9", "url": "https://www.uniprot.org/uniprot/A3QPB9" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "A3QPB9", "url": "https://www.uniprot.org/uniprot/A3QPB9" } ], "pmid": "" }, { "name": "positive regulation of B cell proliferation", "id": "GO:0030890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030890", "evidence": [ { "database": "UniProtKB", "id": "A3QPB9", "url": "https://www.uniprot.org/uniprot/A3QPB9" } ], "pmid": "" }, { "name": "positive regulation of T cell proliferation", "id": "GO:0042102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042102", "evidence": [ { "database": "UniProtKB", "id": "A3QPB9", "url": "https://www.uniprot.org/uniprot/A3QPB9" } ], "pmid": "" }, { "name": "cell maturation", "id": "GO:0048469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048469", "evidence": [ { "database": "UniProtKB", "id": "A3QPB9", "url": "https://www.uniprot.org/uniprot/A3QPB9" } ], "pmid": "" }, { "name": "positive regulation of natural killer cell mediated cytotoxicity", "id": "GO:0045954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045954", "evidence": [ { "database": "UniProtKB", "id": "A3QPB9", "url": "https://www.uniprot.org/uniprot/A3QPB9" } ], "pmid": "" }, { "name": "positive regulation of tyrosine phosphorylation of STAT protein", "id": "GO:0042531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042531", "evidence": [ { "database": "UniProtKB", "id": "A3QPB9", "url": "https://www.uniprot.org/uniprot/A3QPB9" } ], "pmid": "" }, { "name": "tyrosine phosphorylation of STAT protein", "id": "GO:0007260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007260", "evidence": [ { "database": "UniProtKB", "id": "A3QPB9", "url": "https://www.uniprot.org/uniprot/A3QPB9" } ], "pmid": "" }, { "name": "natural killer cell differentiation", "id": "GO:0001779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001779", "evidence": [ { "database": "UniProtKB", "id": "A3QPB9", "url": "https://www.uniprot.org/uniprot/A3QPB9" } ], "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": "A3QPB9", "url": "https://www.uniprot.org/uniprot/A3QPB9" } ], "pmid": "" }, { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "A3QPB9", "url": "https://www.uniprot.org/uniprot/A3QPB9" } ], "pmid": "" }, { "name": "germinal center B cell differentiation", "id": "GO:0002314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002314", "evidence": [ { "database": "UniProtKB", "id": "A3QPB9", "url": "https://www.uniprot.org/uniprot/A3QPB9" } ], "pmid": "" }, { "name": "positive regulation of type II interferon production", "id": "GO:0032729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032729", "evidence": [ { "database": "UniProtKB", "id": "A3QPB9", "url": "https://www.uniprot.org/uniprot/A3QPB9" } ], "pmid": "" }, { "name": "cellular response to virus", "id": "GO:0098586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098586", "evidence": [ { "database": "UniProtKB", "id": "A3QPB9", "url": "https://www.uniprot.org/uniprot/A3QPB9" } ], "pmid": "" }, { "name": "positive regulation of interleukin-10 production", "id": "GO:0032733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032733", "evidence": [ { "database": "UniProtKB", "id": "A3QPB9", "url": "https://www.uniprot.org/uniprot/A3QPB9" } ], "pmid": "" }, { "name": "natural killer cell mediated cytotoxicity", "id": "GO:0042267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042267", "evidence": [ { "database": "UniProtKB", "id": "A3QPB9", "url": "https://www.uniprot.org/uniprot/A3QPB9" } ], "pmid": "" }, { "name": "positive regulation of natural killer cell differentiation", "id": "GO:0032825", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032825", "evidence": [ { "database": "UniProtKB", "id": "A3QPB9", "url": "https://www.uniprot.org/uniprot/A3QPB9" } ], "pmid": "" }, { "name": "positive regulation of natural killer cell cytokine production", "id": "GO:0002729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002729", "evidence": [ { "database": "UniProtKB", "id": "A3QPB9", "url": "https://www.uniprot.org/uniprot/A3QPB9" } ], "pmid": "" }, { "name": "positive regulation of immunoglobulin production", "id": "GO:0002639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002639", "evidence": [ { "database": "UniProtKB", "id": "A3QPB9", "url": "https://www.uniprot.org/uniprot/A3QPB9" } ], "pmid": "" }, { "name": "T follicular helper cell differentiation", "id": "GO:0061470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061470", "evidence": [ { "database": "UniProtKB", "id": "A3QPB9", "url": "https://www.uniprot.org/uniprot/A3QPB9" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "A3QPB9", "url": "https://www.uniprot.org/uniprot/A3QPB9" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "A3QPB9", "url": "https://www.uniprot.org/uniprot/A3QPB9" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "interleukin-2 receptor binding", "id": "GO:0005134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005134", "evidence": [ { "database": "UniProtKB", "id": "A3QPB9", "url": "https://www.uniprot.org/uniprot/A3QPB9" } ], "pmid": "" }, { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "A3QPB9", "url": "https://www.uniprot.org/uniprot/A3QPB9" } ], "pmid": "" }, { "name": "cytokine receptor binding", "id": "GO:0005126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005126", "evidence": [ { "database": "UniProtKB", "id": "A3QPB9", "url": "https://www.uniprot.org/uniprot/A3QPB9" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 85, "end_pos": 87, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "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": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }