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The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0080547", "name": "metabolic dysfunction-associated steatohepatitis", "description": "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis.", "url": "https://disease-ontology.org/term/DOID:0080547", "evidence": [ { "id": "0080547", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080547" } ], "weight": 0.0 }, { "disease_id": "DOID:10603", "name": "glucose intolerance", "description": "", "url": "https://disease-ontology.org/term/DOID:10603", "evidence": [ { "id": "10603", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10603" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:2018", "name": "hyperinsulinism", "description": "", "url": "https://disease-ontology.org/term/DOID:2018", "evidence": [ { "id": "2018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2018" } ], "weight": 0.0 }, { "disease_id": "DOID:2526", "name": "prostate adenocarcinoma", "description": "A prostate carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:2526", "evidence": [ { "id": "2526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2526" } ], "weight": 0.0 }, { "disease_id": "DOID:4195", "name": "hyperglycemia", "description": "", "url": "https://disease-ontology.org/term/DOID:4195", "evidence": [ { "id": "4195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4195" } ], "weight": 0.0 }, { "disease_id": "DOID:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": 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Clinical symptoms include pulmonary nodules and hemorrhage.", "url": "https://disease-ontology.org/term/DOID:0050073", "evidence": [ { "id": "0050073", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050073" } ], "weight": 0.0 }, { "disease_id": "DOID:0050127", "name": "sinusitis", "description": "A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. 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The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage.", "url": "https://disease-ontology.org/term/DOID:1024", "evidence": [ { "id": "1024", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1024" } ], "weight": 0.0 }, { "disease_id": "DOID:10286", "name": "prostate carcinoma", "description": "A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:10286", "evidence": [ { "id": "10286", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10286" } ], "weight": 0.0 }, { "disease_id": "DOID:10320", "name": "asbestosis", "description": "A pneumoconiosis caused by inhalation and retention of asbestos fibers.", "url": "https://disease-ontology.org/term/DOID:10320", "evidence": [ { "id": "10320", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10320" } ], "weight": 0.0 }, { "disease_id": "DOID:10325", "name": "silicosis", "description": "A pneumoconiosis that is an inflammation and scarring of the upper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles.", "url": "https://disease-ontology.org/term/DOID:10325", "evidence": [ { "id": "10325", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10325" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:11335", "name": "sarcoidosis", "description": "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.", "url": "https://disease-ontology.org/term/DOID:11335", "evidence": [ { "id": "11335", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11335" } ], "weight": 0.0 }, { "disease_id": "DOID:11650", "name": "bronchopulmonary dysplasia", "description": "A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.", "url": "https://disease-ontology.org/term/DOID:11650", "evidence": [ { "id": "11650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ], "weight": 0.0 }, { "disease_id": "DOID:1205", "name": "allergic disease", "description": "An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods.", "url": "https://disease-ontology.org/term/DOID:1205", "evidence": [ { "id": "1205", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1205" } ], "weight": 0.0 }, { "disease_id": "DOID:12053", "name": "cryptococcosis", "description": "An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii.", "url": "https://disease-ontology.org/term/DOID:12053", "evidence": [ { "id": "12053", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12053" } ], "weight": 0.0 }, { "disease_id": "DOID:13375", "name": "temporal arteritis", "description": "A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head.", "url": "https://disease-ontology.org/term/DOID:13375", "evidence": [ { "id": "13375", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13375" } ], "weight": 0.0 }, { "disease_id": "DOID:13406", "name": "pulmonary sarcoidosis", "description": "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.", "url": "https://disease-ontology.org/term/DOID:13406", "evidence": [ { "id": "13406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13406" } ], "weight": 0.0 }, { "disease_id": "DOID:13564", "name": "aspergillosis", "description": "An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system.", "url": "https://disease-ontology.org/term/DOID:13564", "evidence": [ { "id": "13564", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13564" } ], "weight": 0.0 }, { "disease_id": "DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus.", "url": "https://disease-ontology.org/term/DOID:1380", "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:1508", "name": "candidiasis", "description": "An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. Systemic Candida infections are usually confined to severely immunocompromised persons.", "url": "https://disease-ontology.org/term/DOID:1508", "evidence": [ { "id": "1508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1508" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.", "url": "https://disease-ontology.org/term/DOID:1909", "evidence": [ { "id": "1909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ], "weight": 0.0 }, { "disease_id": "DOID:1926", "name": "Gaucher's disease", "description": "A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver.", "url": "https://disease-ontology.org/term/DOID:1926", "evidence": [ { "id": "1926", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1926" } ], "weight": 0.0 }, { "disease_id": "DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID:2378", "name": "relapsing-remitting multiple sclerosis", "description": "A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles.", "url": "https://disease-ontology.org/term/DOID:2378", "evidence": [ { "id": "2378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2378" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:3068", "name": "glioblastoma", "description": "A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.", "url": "https://disease-ontology.org/term/DOID:3068", "evidence": [ { "id": "3068", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3068" } ], "weight": 0.0 }, { "disease_id": "DOID:3082", "name": "interstitial lung disease", "description": "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough.", "url": "https://disease-ontology.org/term/DOID:3082", "evidence": [ { "id": "3082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3082" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3371", "name": "chondrosarcoma", "description": "A bone sarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage.", "url": "https://disease-ontology.org/term/DOID:3371", "evidence": [ { "id": "3371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3371" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:399", "name": "tuberculosis", "description": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.", "url": "https://disease-ontology.org/term/DOID:399", "evidence": [ { "id": "399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:399" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:4481", "name": "allergic rhinitis", "description": "A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.", "url": "https://disease-ontology.org/term/DOID:4481", "evidence": [ { "id": "4481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4481" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "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).", "url": "https://disease-ontology.org/term/DOID:8869", "evidence": [ { "id": "8869", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8869" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9360", "name": "intrinsic asthma", "description": "A chronic asthma that is triggered by factors not attributable to allergies.", "url": "https://disease-ontology.org/term/DOID:9360", "evidence": [ { "id": "9360", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9360" } ], "weight": 0.0 }, { "disease_id": "DOID:9415", "name": "allergic asthma", "description": "An extrinsic asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. The disease has_symptom coughing, has_symptom wheezing, has_symptom shortness of breath or has_symptom rapid breathing, and has_symptom chest tightness.", "url": "https://disease-ontology.org/term/DOID:9415", "evidence": [ { "id": "9415", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9415" } ], "weight": 0.0 }, { "disease_id": "DOID:9470", "name": "bacterial meningitis", "description": "A meningitis that has_material_basis_in a bacterial infection.", "url": "https://disease-ontology.org/term/DOID:9470", "evidence": [ { "id": "9470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9470" } ], "weight": 0.0 }, { "disease_id": "DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID:9563", "name": "bronchiectasis", "description": "A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances.", "url": "https://disease-ontology.org/term/DOID:9563", "evidence": [ { "id": "9563", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9563" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": 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The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:399", "name": "tuberculosis", "description": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.", "url": "https://disease-ontology.org/term/DOID:399", "evidence": [ { "id": "399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:399" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). 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and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:1070", "name": "primary open angle glaucoma", "description": "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure.", "url": "https://disease-ontology.org/term/DOID:1070", "evidence": [ { "id": "1070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1070" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", 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beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain.", "url": "https://disease-ontology.org/term/DOID:10923", "evidence": [ { "id": "10923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10923" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:11650", "name": "bronchopulmonary dysplasia", "description": "A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.", "url": "https://disease-ontology.org/term/DOID:11650", "evidence": [ { "id": "11650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ], "weight": 0.0 }, { "disease_id": "DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx.", "url": "https://disease-ontology.org/term/DOID:11934", "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ], "weight": 0.0 }, { "disease_id": "DOID:1210", "name": "optic neuritis", "description": "An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision.", "url": "https://disease-ontology.org/term/DOID:1210", "evidence": [ { "id": "1210", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1210" } ], "weight": 0.0 }, { "disease_id": "DOID:12241", "name": "beta thalassemia", "description": "A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.", "url": "https://disease-ontology.org/term/DOID:12241", "evidence": [ { "id": "12241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12241" } ], "weight": 0.0 }, { "disease_id": "DOID:1227", "name": "neutropenia", "description": "", "url": "https://disease-ontology.org/term/DOID:1227", "evidence": [ { "id": "1227", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1227" } ], "weight": 0.0 }, { "disease_id": "DOID:12449", "name": "aplastic anemia", "description": "A normocytic anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow.", "url": "https://disease-ontology.org/term/DOID:12449", "evidence": [ { "id": "12449", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12449" } ], "weight": 0.0 }, { "disease_id": "DOID:1287", "name": "cardiovascular system disease", "description": "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.", "url": "https://disease-ontology.org/term/DOID:1287", "evidence": [ { "id": "1287", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1287" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:13636", "name": "Fanconi anemia", "description": "A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair.", "url": "https://disease-ontology.org/term/DOID:13636", "evidence": [ { "id": "13636", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13636" } ], "weight": 0.0 }, { "disease_id": "DOID:13641", "name": "exfoliation syndrome", "description": "A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures.", "url": "https://disease-ontology.org/term/DOID:13641", "evidence": [ { "id": "13641", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13641" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1474", "name": "aggressive periodontitis", "description": "A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium.", "url": "https://disease-ontology.org/term/DOID:1474", "evidence": [ { "id": "1474", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1474" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:1584", "name": "acute chest syndrome", "description": "A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph.", "url": "https://disease-ontology.org/term/DOID:1584", "evidence": [ { "id": "1584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1584" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:1682", "name": "congenital heart disease", "description": "A physical disorder that is characterized by problems with the heart's structure that are present at birth.", "url": "https://disease-ontology.org/term/DOID:1682", "evidence": [ { "id": "1682", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1682" } ], "weight": 0.0 }, { "disease_id": "DOID:2152", "name": "ovary epithelial cancer", "description": "An ovarian cancer that is derives_from ovarian surface epithelium.", "url": "https://disease-ontology.org/term/DOID:2152", "evidence": [ { "id": "2152", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2152" } ], "weight": 0.0 }, { "disease_id": "DOID:231", "name": "motor neuron disease", "description": "A neurodegenerative disease that is located_in the motor neurons.", "url": "https://disease-ontology.org/term/DOID:231", "evidence": [ { "id": "231", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:231" } ], "weight": 0.0 }, { "disease_id": "DOID:234", "name": "colon adenocarcinoma", "description": "A colon carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:234", "evidence": [ { "id": "234", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:234" } ], "weight": 0.0 }, { "disease_id": "DOID:2355", "name": "anemia", "description": "A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.", "url": "https://disease-ontology.org/term/DOID:2355", "evidence": [ { "id": "2355", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2355" } ], "weight": 0.0 }, { "disease_id": "DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID:2671", "name": "transitional cell carcinoma", "description": "A carcinoma that derives_from transitional epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2671", "evidence": [ { "id": "2671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2671" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2893", "name": "cervix carcinoma", "description": "A cervical cancer that is located_in the cervix uteri or located_in the cervical area and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2893", "evidence": [ { "id": "2893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2893" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3883", "name": "Lynch syndrome", "description": "A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers.", "url": "https://disease-ontology.org/term/DOID:3883", "evidence": [ { "id": "3883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3883" } ], "weight": 0.0 }, { "disease_id": "DOID:4074", "name": "pancreatic adenocarcinoma", "description": "A pancreatic carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4074", "evidence": [ { "id": "4074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4074" } ], "weight": 0.0 }, { "disease_id": "DOID:409", "name": "liver disease", "description": "", "url": "https://disease-ontology.org/term/DOID:409", "evidence": [ { "id": "409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:409" } ], "weight": 0.0 }, { "disease_id": "DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix.", "url": "https://disease-ontology.org/term/DOID:4362", "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4914", "name": "esophagus adenocarcinoma", "description": "An esophageal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4914", "evidence": [ { "id": "4914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4914" } ], "weight": 0.0 }, { "disease_id": "DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:5041", "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:574", "name": "peripheral nervous system disease", "description": "A nervous system disease that affects the peripheral nervous system.", "url": "https://disease-ontology.org/term/DOID:574", "evidence": [ { "id": "574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:574" } ], "weight": 0.0 }, { "disease_id": "DOID:5773", "name": "oral submucous fibrosis", "description": "A mouth disease that is characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues.", "url": "https://disease-ontology.org/term/DOID:5773", "evidence": [ { "id": "5773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5773" } ], "weight": 0.0 }, { "disease_id": "DOID:615", "name": "leukopenia", "description": "A leukocyte disorder that is characterized by a decrease in the number of white blood cells (leukocytes) found in the blood, which places individuals at increased risk of infection.", "url": "https://disease-ontology.org/term/DOID:615", "evidence": [ { "id": "615", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:615" } ], "weight": 0.0 }, { "disease_id": "DOID:676", "name": "systemic 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.", "url": "https://disease-ontology.org/term/DOID:676", "evidence": [ { "id": "676", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:676" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.", "url": "https://disease-ontology.org/term/DOID:83", "evidence": [ { "id": "83", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:83" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:8567", "name": "Hodgkin's lymphoma", "description": "A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell.", "url": "https://disease-ontology.org/term/DOID:8567", "evidence": [ { "id": "8567", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8567" } ], "weight": 0.0 }, { "disease_id": "DOID:8568", "name": "infectious mononucleosis", "description": "A viral infectious disease that results in inflammation, located in pharynx, has_material_basis_in Human herpesvirus 4 (Lymphocryptovirus humangamma4) and has symptom fever, has symptom fatigue, has symptom lymphadenopathy, and has symptom splenomegaly.", "url": "https://disease-ontology.org/term/DOID:8568", "evidence": [ { "id": "8568", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8568" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:8618", "name": "oral cavity cancer", "description": "A gastrointestinal system cancer that is located_in the oral cavity.", "url": "https://disease-ontology.org/term/DOID:8618", "evidence": [ { "id": "8618", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8618" } ], "weight": 0.0 }, { "disease_id": "DOID:8692", "name": "myeloid leukemia", "description": "A leukemia that is located_in myeloid tissue.", "url": "https://disease-ontology.org/term/DOID:8692", "evidence": [ { "id": "8692", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8692" } ], "weight": 0.0 }, { 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chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis.", "url": "https://disease-ontology.org/term/DOID:13550", "evidence": [ { "id": "13550", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13550" } ], "weight": 0.0 }, { "disease_id": "DOID:13580", "name": "cholestasis", "description": "A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum.", "url": "https://disease-ontology.org/term/DOID:13580", "evidence": [ { "id": "13580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13580" } ], "weight": 0.0 }, { "disease_id": "DOID:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:1459", "evidence": [ { "id": "1459", "database": "AGR", "url": 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"https://disease-ontology.org/term/DOID:161", "evidence": [ { "id": "161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:161" } ], "weight": 0.0 }, { "disease_id": "DOID:1679", "name": "cystitis", "description": "A bladder disease that is characterized by inflammation of the bladder.", "url": "https://disease-ontology.org/term/DOID:1679", "evidence": [ { "id": "1679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1679" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.", "url": "https://disease-ontology.org/term/DOID:1909", "evidence": [ { "id": "1909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:2527", "name": "nephrosis", "description": "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation.", "url": "https://disease-ontology.org/term/DOID:2527", "evidence": [ { "id": "2527", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2527" } ], "weight": 0.0 }, { "disease_id": "DOID:2582", "name": "acatalasia", "description": "A peroxisomal disease characterized by loss of catalase activity in erythrocytes that has_material_basis_in homozygous mutation in the CAT gene on chromosome 11p13.", "url": "https://disease-ontology.org/term/DOID:2582", "evidence": [ { "id": "2582", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2582" } ], "weight": 0.0 }, { "disease_id": "DOID:2738", "name": "pseudoxanthoma elasticum", "description": "A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system.", "url": "https://disease-ontology.org/term/DOID:2738", "evidence": [ { "id": "2738", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2738" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2876", "name": "laryngeal squamous cell carcinoma", "description": "A laryngeal carcinoma that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:2876", "evidence": [ { "id": "2876", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2876" } ], "weight": 0.0 }, { "disease_id": "DOID:2987", "name": "familial Mediterranean fever", "description": "An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.", "url": "https://disease-ontology.org/term/DOID:2987", "evidence": [ { "id": "2987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2987" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3458", "name": "breast adenocarcinoma", "description": "A breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast.", "url": "https://disease-ontology.org/term/DOID:3458", "evidence": [ { "id": "3458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3458" } ], "weight": 0.0 }, { "disease_id": "DOID:3602", "name": "toxic encephalopathy", "description": "A nervous system disease that results from exposure to neurotoxicants and is characterized by an altered mental status, memory loss, and visual problems.", "url": "https://disease-ontology.org/term/DOID:3602", "evidence": [ { "id": "3602", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3602" } ], "weight": 0.0 }, { "disease_id": "DOID:3717", "name": "gastric adenocarcinoma", "description": "A stomach carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3717", "evidence": [ { "id": "3717", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3717" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:3969", "name": "papillary thyroid carcinoma", "description": "A differentiated thyroid gland carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer and arises from the follicular cells of the thyroid gland.", "url": "https://disease-ontology.org/term/DOID:3969", "evidence": [ { "id": "3969", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3969" } ], "weight": 0.0 }, { "disease_id": "DOID:5199", "name": "ureteral obstruction", "description": "An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder.", "url": "https://disease-ontology.org/term/DOID:5199", "evidence": [ { "id": "5199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5199" } ], "weight": 0.0 }, { "disease_id": "DOID:5679", "name": "retinal disease", "description": "An eye disease that is located_in the retina.", "url": "https://disease-ontology.org/term/DOID:5679", "evidence": [ { "id": "5679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5679" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:585", "name": "nephrolithiasis", "description": "A kidney disease characterized by the formation of stoney concentrations in the kidneys.", "url": "https://disease-ontology.org/term/DOID:585", "evidence": [ { "id": "585", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:585" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:631", "name": "fibromyalgia", "description": "A syndrome that is is characterized by chronic widespread musculoskeletal pain, fatigue, sleep disturbances, cognitive dysfunction and depression.", "url": "https://disease-ontology.org/term/DOID:631", "evidence": [ { "id": "631", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:631" } ], "weight": 0.0 }, { "disease_id": "DOID:6543", "name": "acne", "description": "A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring.", "url": "https://disease-ontology.org/term/DOID:6543", "evidence": [ { "id": "6543", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6543" } ], "weight": 0.0 }, { "disease_id": "DOID:670", "name": "amphetamine abuse", "description": "A substance abuse that involves the recurring use of amphetamines despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:670", "evidence": [ { "id": "670", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:670" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:7998", "name": "hyperthyroidism", "description": "A thyroid gland disease that involves an over production of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:7998", "evidence": [ { "id": "7998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7998" } ], "weight": 0.0 }, { "disease_id": "DOID:8295", "name": "scabies", "description": "A mite infestation that is a contagious ectoparasite skin infection caused by human itch mite Sarcoptes scabiei type hominis, which burrows into the upper layer of the skin but never below the stratum corneum causing severe itching and a rash found on the hands, folds of the wrist, elbow or knee, penis, breast, and shoulder blades.", "url": "https://disease-ontology.org/term/DOID:8295", "evidence": [ { "id": "8295", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8295" } ], "weight": 0.0 }, { "disease_id": "DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.", "url": "https://disease-ontology.org/term/DOID:83", "evidence": [ { "id": "83", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:83" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:874", "name": "bacterial pneumonia", "description": "A pneumonia involving inflammation of the lungs caused by bacteria.", "url": "https://disease-ontology.org/term/DOID:874", "evidence": [ { "id": "874", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:874" } ], "weight": 0.0 }, { "disease_id": "DOID:8741", "name": "seborrheic dermatitis", "description": "A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss.", "url": "https://disease-ontology.org/term/DOID:8741", "evidence": [ { "id": "8741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8741" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9111", "name": "cutaneous leishmaniasis", "description": "A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions.", "url": "https://disease-ontology.org/term/DOID:9111", "evidence": [ { "id": "9111", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9111" } ], "weight": 0.0 }, { "disease_id": "DOID:9182", "name": "pemphigus", "description": "An autoimmune disease of skin and connective tissue that is characterized by blistering of the outer layer of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals), causing lesions and blisters that are easily ruptured.", "url": "https://disease-ontology.org/term/DOID:9182", "evidence": [ { "id": "9182", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9182" } ], "weight": 0.0 }, { "disease_id": "DOID:9201", "name": "lichen planus", "description": "A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes.", "url": "https://disease-ontology.org/term/DOID:9201", "evidence": [ { "id": "9201", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9201" } ], "weight": 0.0 }, { "disease_id": "DOID:9281", "name": "phenylketonuria", "description": "An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.", "url": "https://disease-ontology.org/term/DOID:9281", "evidence": [ { "id": "9281", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9281" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9637", "name": "stomatitis", "description": "A mouth disease that is characterized by inflammation of the mouth and lips.", "url": "https://disease-ontology.org/term/DOID:9637", "evidence": [ { "id": "9637", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9637" } ], "weight": 0.0 }, { "disease_id": "DOID:9669", "name": "senile cataract", "description": "A cataract that is characterized by thickening and loss of transparency of the lens with age progression, caused by a multifactorial etiology related to aging.", "url": "https://disease-ontology.org/term/DOID:9669", "evidence": [ { "id": "9669", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9669" } ], "weight": 0.0 }, { "disease_id": "DOID:9719", "name": "neovascular inflammatory vitreoretinopathy", "description": "A retinal and vitreous disease characterized by ocular inflammation, vascular dropout, large spots of hyperpigmentation, neovascularization of the peripheral and posterior retina, vitreous hemorrhage, and retinal detachment that has_material_basis_in heterozygous mutation in the CAPN5 gene on chromosome 11q13.5.", "url": "https://disease-ontology.org/term/DOID:9719", "evidence": [ { "id": "9719", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9719" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P15202", "url": "https://www.uniprot.org/uniprotkb/P15202" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P15202", "url": "https://www.uniprot.org/uniprotkb/P15202" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "P15202", "url": "https://www.uniprot.org/uniprotkb/P15202" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "P15202", "url": "https://www.uniprot.org/uniprotkb/P15202" } ], "pmid": "" }, { "name": "peroxisomal matrix", "id": "GO:0005782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005782", "evidence": [ { "database": "UniProtKB", "id": "P15202", "url": "https://www.uniprot.org/uniprotkb/P15202" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P15202", "url": "https://www.uniprot.org/uniprotkb/P15202" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "P15202", "url": "https://www.uniprot.org/uniprotkb/P15202" } ], "pmid": "" }, { "name": "catalase activity", "id": "GO:0004096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004096", "evidence": [ { "database": "UniProtKB", "id": "P15202", "url": "https://www.uniprot.org/uniprotkb/P15202" } ], "pmid": "" } ], "biological_process": [ { "name": "response to hydrogen peroxide", "id": "GO:0042542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042542", "evidence": [ { "database": "UniProtKB", "id": "P15202", "url": "https://www.uniprot.org/uniprotkb/P15202" } ], "pmid": "" }, { "name": "response to reactive oxygen species", "id": "GO:0000302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000302", "evidence": [ { "database": "UniProtKB", "id": "P15202", "url": "https://www.uniprot.org/uniprotkb/P15202" } ], "pmid": "" }, { "name": "hydrogen peroxide catabolic process", "id": "GO:0042744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042744", "evidence": [ { "database": "UniProtKB", "id": "P15202", "url": "https://www.uniprot.org/uniprotkb/P15202" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P15202-1", "start_pos": "26", "end_pos": "26", "site_lbl": "Thr26", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "SGD", "id": "S000002664", "url": "https://www.yeastgenome.org/locus/S000002664" }, { "database": "iPTMnet", "id": "P15202", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P15202" }, { "database": "PubMed", "id": "33491328", "url": "https://glygen.org/publication/PubMed/33491328" } ] } ] } ], "record_id": "batch.yeast.5" }, { "uniprot_canonical_ac": "P15274-1", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "evidence": [ { "database": "UniProtKB", "id": "P15274", "url": "https://www.uniprot.org/uniprotkb/P15274" } ], "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "length": 810, "chemical_mass": 93302.0, "gene_names": "AMD1;AMD1;AMD3;AMD", "protein_name": "AMP deaminase", "disease": [ { "disease_id": "DOID:0051064", "name": "left ventricular failure", "description": "A congestive heart failure that is characterized by dysfunction of the left ventricle, resulting insufficient delivery of blood to vital organs.", "url": "https://disease-ontology.org/term/DOID:0051064", "evidence": [ { "id": "0051064", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051064" } ], "weight": 0.0 }, { "disease_id": "DOID:0060264", "name": "pontocerebellar hypoplasia", "description": "A neurodegenerative disease that is characterized by underdevelopment of the pons and cerebellum.", "url": "https://disease-ontology.org/term/DOID:0060264", "evidence": [ { "id": "0060264", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060264" } ], "weight": 0.0 }, { "disease_id": "DOID:0060278", "name": "pontocerebellar hypoplasia type 9", "description": "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, spasticity, seizure and brain atrophy, has_material_basis_in autosomal recessive inheritance of mutation in the AMPD2 gene.", "url": "https://disease-ontology.org/term/DOID:0060278", "evidence": [ { "id": "0060278", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060278" } ], "weight": 0.0 }, { "disease_id": "DOID:0110814", "name": "hereditary spastic paraplegia 63", "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the AMPD2 gene on chromosome 1p13.", "url": "https://disease-ontology.org/term/DOID:0110814", "evidence": [ { "id": "0110814", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110814" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": 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The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress.", "url": "https://disease-ontology.org/term/DOID:1273", "evidence": [ { "id": "1273", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1273" } ], "weight": 0.0 }, { "disease_id": "DOID:2476", "name": "hereditary spastic paraplegia", "description": "A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs.", "url": "https://disease-ontology.org/term/DOID:2476", "evidence": [ { "id": "2476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2476" } ], "weight": 0.0 }, { "disease_id": "DOID:409", "name": "liver disease", "description": "", "url": "https://disease-ontology.org/term/DOID:409", "evidence": [ { "id": "409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:409" } ], "weight": 0.0 }, { "disease_id": "DOID:4492", "name": "avian influenza", "description": "An influenza that results in infection located in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus (Alphainfluenzavirus influenzae), which is transmitted by contact with infected poultry. At least five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress.", "url": "https://disease-ontology.org/term/DOID:4492", "evidence": [ { "id": "4492", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4492" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:986", "name": "alopecia areata", "description": "An autoimmune disease resulting in the loss of hair on the scalp and elsewhere on the body initially 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"weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "SGD", "id": "S000002248", "url": "https://www.yeastgenome.org/locus/S000002248" }, { "database": "iPTMnet", "id": "P22007", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P22007" }, { "database": "PubMed", "id": "33491328", "url": "https://glygen.org/publication/PubMed/33491328" } ] } ] }, { "uniprot_canonical_ac": "P22007-1", "start_pos": "429", "end_pos": "429", "site_lbl": "Ser429", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "SGD", "id": "S000002248", "url": "https://www.yeastgenome.org/locus/S000002248" }, { "database": "iPTMnet", "id": "P22007", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P22007" }, { "database": "PubMed", "id": "33491328", "url": "https://glygen.org/publication/PubMed/33491328" } ] } ] }, { "uniprot_canonical_ac": "P22007-1", "start_pos": "149", "end_pos": "149", "site_lbl": "Gly149", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Alters protein substrate specificity. Able to farnesylate Ras2 variants with positively charged C-terminal amino acids (CIIR and CIIK).", "evidence": [ { "database": "UniProtKB", "id": "P22007", "url": "https://www.uniprot.org/uniprotkb/P22007" }, { "database": "PubMed", "id": "9380709", "url": "https://glygen.org/publication/PubMed/9380709" } ] }, { "sequence_org": "G", "sequence_mut": "E", "comment": "Alters protein substrate specificity. Able to farnesylate Ras2 variants with positively charged C-terminal amino acids (CIIR and CIIK).", "evidence": [ { "database": "UniProtKB", "id": "P22007", "url": "https://www.uniprot.org/uniprotkb/P22007" }, { "database": "PubMed", "id": "9380709", "url": "https://glygen.org/publication/PubMed/9380709" } ] }, { "sequence_org": "G", "sequence_mut": "K", "comment": "Alters protein substrate specificity. Able to farnesylate Ras2 variants with a negatively charged C-terminal aspartate (CIID).", "evidence": [ { "database": "UniProtKB", "id": "P22007", "url": "https://www.uniprot.org/uniprotkb/P22007" }, { "database": "PubMed", "id": "9380709", "url": "https://glygen.org/publication/PubMed/9380709" } ] }, { "sequence_org": "G", "sequence_mut": "R", "comment": "Alters protein substrate specificity. Able to farnesylate Ras2 variants with a negatively charged C-terminal aspartate (CIID).", "evidence": [ { "database": "UniProtKB", "id": "P22007", "url": "https://www.uniprot.org/uniprotkb/P22007" }, { "database": "PubMed", "id": "9380709", "url": "https://glygen.org/publication/PubMed/9380709" } ] } ] }, { "uniprot_canonical_ac": "P22007-1", "start_pos": "159", "end_pos": "159", "site_lbl": "Ser159", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "D", "comment": "Can substitute for PGGT-I beta subunit (CDC43) in vivo. Has increased activity to farnesylate a substrate for PGGT-I. On the other hand, the ability to farnesylate its own substrate is reduced, due to its increased affinity for PGGT-I protein substrates. Increases the kcat/Km value for PGGTase-I substrates about 20-fold.", "evidence": [ { "database": "UniProtKB", "id": "P22007", "url": "https://www.uniprot.org/uniprotkb/P22007" }, { "database": "PubMed", "id": "7878044", "url": "https://glygen.org/publication/PubMed/7878044" }, { "database": "PubMed", "id": "8995312", "url": "https://glygen.org/publication/PubMed/8995312" } ] }, { "sequence_org": "S", "sequence_mut": "N", "comment": "Can substitute for PGGT-I beta subunit (CDC43) in vivo. Has increased activity to farnesylate a substrate for PGGT-I. On the other hand, the ability to farnesylate its own substrate is reduced, due to its increased affinity for PGGT-I protein substrates. Increases the kcat/Km value for PGGTase-I substrates about 20-fold.", "evidence": [ { "database": "UniProtKB", "id": "P22007", "url": "https://www.uniprot.org/uniprotkb/P22007" }, { "database": "PubMed", "id": "7878044", "url": "https://glygen.org/publication/PubMed/7878044" }, { "database": "PubMed", "id": "8995312", "url": "https://glygen.org/publication/PubMed/8995312" } ] } ] }, { "uniprot_canonical_ac": "P22007-1", "start_pos": "209", "end_pos": "209", "site_lbl": "Asp209", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "In ram1-1; causes a defect in a-factor production.", "evidence": [ { "database": "UniProtKB", "id": "P22007", "url": "https://www.uniprot.org/uniprotkb/P22007" }, { "database": "PubMed", "id": "8494894", "url": "https://glygen.org/publication/PubMed/8494894" }, { "database": "PubMed", "id": "2124698", "url": "https://glygen.org/publication/PubMed/2124698" } ] } ] }, { "uniprot_canonical_ac": "P22007-1", "start_pos": "259", "end_pos": "259", "site_lbl": "Gly259", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "In ram1-2; abolishes farnesyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "P22007", "url": "https://www.uniprot.org/uniprotkb/P22007" }, { "database": "PubMed", "id": "8494894", "url": "https://glygen.org/publication/PubMed/8494894" }, { "database": "PubMed", "id": "1860864", "url": "https://glygen.org/publication/PubMed/1860864" } ] } ] }, { "uniprot_canonical_ac": "P22007-1", "start_pos": "308", "end_pos": "308", "site_lbl": "Gly308", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "T", "comment": "Impairs isoprenyl transferase activity.", "evidence": [ { "database": "UniProtKB", "id": "P22007", "url": "https://www.uniprot.org/uniprotkb/P22007" }, { "database": "PubMed", "id": "9545274", "url": "https://glygen.org/publication/PubMed/9545274" } ] } ] }, { "uniprot_canonical_ac": "P22007-1", "start_pos": "310", "end_pos": "310", "site_lbl": "Tyr310", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "K", "comment": "Impairs isoprenyl transferase activity.", "evidence": [ { "database": "UniProtKB", "id": "P22007", "url": "https://www.uniprot.org/uniprotkb/P22007" }, { "database": "PubMed", "id": "10529185", "url": "https://glygen.org/publication/PubMed/10529185" } ] } ] }, { "uniprot_canonical_ac": "P22007-1", "start_pos": "362", "end_pos": "362", "site_lbl": "Tyr362", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "H", "comment": "Can substitute for PGGT-I beta subunit, by modulating the substrate specificity for the peptide substrate.", "evidence": [ { "database": "UniProtKB", "id": "P22007", "url": "https://www.uniprot.org/uniprotkb/P22007" }, { "database": "PubMed", "id": "8995312", "url": "https://glygen.org/publication/PubMed/8995312" } ] }, { "sequence_org": "Y", "sequence_mut": "I", "comment": "Can substitute for PGGT-I beta subunit, by modulating the substrate specificity for the peptide substrate. Increases the kcat/Km value for PGGTase-I substrates about 20-fold.", "evidence": [ { "database": "UniProtKB", "id": "P22007", "url": "https://www.uniprot.org/uniprotkb/P22007" }, { "database": "PubMed", "id": "8995312", "url": "https://glygen.org/publication/PubMed/8995312" } ] }, { "sequence_org": "Y", "sequence_mut": "L", "comment": "Can substitute for PGGT-I beta subunit, by modulating the substrate specificity for the peptide substrate. Increases the kcat/Km value for PGGTase-I substrates about 20-fold.", "evidence": [ { "database": "UniProtKB", "id": "P22007", "url": "https://www.uniprot.org/uniprotkb/P22007" }, { "database": "PubMed", "id": "8995312", "url": "https://glygen.org/publication/PubMed/8995312" } ] }, { "sequence_org": "Y", "sequence_mut": "M", "comment": "Can substitute for PGGT-I beta subunit, by modulating the substrate specificity for the peptide substrate. Increases the kcat/Km value for PGGTase-I substrates about 20-fold.", "evidence": [ { "database": "UniProtKB", "id": "P22007", "url": "https://www.uniprot.org/uniprotkb/P22007" }, { "database": "PubMed", "id": "8995312", "url": "https://glygen.org/publication/PubMed/8995312" } ] } ] }, { "uniprot_canonical_ac": "P22007-1", "start_pos": "366", "end_pos": "366", "site_lbl": "Tyr366", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Can substitute for PGGT-I beta subunit, by modulating the substrate specificity for the peptide substrate.", "evidence": [ { "database": "UniProtKB", "id": "P22007", "url": "https://www.uniprot.org/uniprotkb/P22007" }, { "database": "PubMed", "id": "8995312", "url": "https://glygen.org/publication/PubMed/8995312" } ] } ] }, { "uniprot_canonical_ac": "P22007-1", "start_pos": "74", "end_pos": "74", "site_lbl": "Ile74", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "D", "comment": "Farnesylates only Ras-CIIS and not Ras-CII(M,L), and it geranylgeranylates all three substrates as well or better than wild type.", "evidence": [ { "database": "UniProtKB", "id": "P22007", "url": "https://www.uniprot.org/uniprotkb/P22007" }, { "database": "PubMed", "id": "9545274", "url": "https://glygen.org/publication/PubMed/9545274" } ] } ] } ], "record_id": "batch.yeast.5" }, { "uniprot_canonical_ac": "P22108-1", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "evidence": [ { "database": "UniProtKB", "id": "P22108", "url": "https://www.uniprot.org/uniprotkb/P22108" } ], "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "length": 325, "chemical_mass": 36841.0, "gene_names": "APA2;APA2;D9719.33", "protein_name": "Diadenosine 5',5'''-P1,P4-tetraphosphate phosphorylase 2", "disease": [], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P22108", "url": "https://www.uniprot.org/uniprotkb/P22108" } ], "pmid": "" }, { "name": "ATP:ADP adenylyltransferase activity", "id": "GO:0003877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003877", "evidence": [ { "database": "UniProtKB", "id": "P22108", "url": "https://www.uniprot.org/uniprotkb/P22108" } ], "pmid": "" }, { "name": "bis(5'-nucleosyl)-tetraphosphatase activity", "id": "GO:0008796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008796", "evidence": [ { "database": "UniProtKB", "id": "P22108", "url": "https://www.uniprot.org/uniprotkb/P22108" } ], "pmid": "" }, { "name": "sulfate adenylyltransferase (ADP) activity", "id": "GO:0004780", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004780", "evidence": [ { "database": "UniProtKB", "id": "P22108", "url": "https://www.uniprot.org/uniprotkb/P22108" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P22108", "url": "https://www.uniprot.org/uniprotkb/P22108" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P22108", "url": "https://www.uniprot.org/uniprotkb/P22108" } ], "pmid": "" } ], "biological_process": [ { "name": "nucleotide biosynthetic process", "id": "GO:0009165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009165", "evidence": [ { "database": "UniProtKB", "id": "P22108", "url": "https://www.uniprot.org/uniprotkb/P22108" } ], "pmid": "" }, { "name": "nucleoside catabolic process", "id": "GO:0009164", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009164", "evidence": [ { "database": "UniProtKB", "id": "P22108", "url": "https://www.uniprot.org/uniprotkb/P22108" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P22108-1", "start_pos": "161", "end_pos": "161", "site_lbl": "His161", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Completely abolishes catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "P22108", "url": "https://www.uniprot.org/uniprotkb/P22108" }, { "database": "PubMed", "id": "23628156", "url": "https://glygen.org/publication/PubMed/23628156" } ] } ] } ], "record_id": "batch.yeast.5" }, { "uniprot_canonical_ac": "P22133-1", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "evidence": [ { "database": "UniProtKB", "id": "P22133", "url": "https://www.uniprot.org/uniprotkb/P22133" } ], "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "length": 377, "chemical_mass": 40731.0, "gene_names": "MDH2;MDH2", "protein_name": "Malate dehydrogenase, cytoplasmic", "disease": [ { "disease_id": "DOID:0080433", "name": "developmental and epileptic encephalopathy 51", "description": "A developmental and epileptic encephalopathy characterized by onset of intractable seizures and hypotonia in the first days or weeks of life and severely delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the MDH2 gene on chromosome 7q11.", "url": "https://disease-ontology.org/term/DOID:0080433", "evidence": [ { "id": "0080433", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080433" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P22133", "url": "https://www.uniprot.org/uniprotkb/P22133" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P22133", "url": "https://www.uniprot.org/uniprotkb/P22133" } ], "pmid": "" }, { "name": "nuclear periphery", "id": "GO:0034399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034399", "evidence": [ { "database": "UniProtKB", "id": "P22133", "url": "https://www.uniprot.org/uniprotkb/P22133" } ], "pmid": "" } ], "biological_process": [ { "name": "tricarboxylic acid cycle", "id": "GO:0006099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006099", "evidence": [ { "database": "UniProtKB", "id": "P22133", "url": "https://www.uniprot.org/uniprotkb/P22133" } ], "pmid": "" }, { "name": "gluconeogenesis", "id": "GO:0006094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006094", "evidence": [ { "database": "UniProtKB", "id": "P22133", "url": "https://www.uniprot.org/uniprotkb/P22133" } ], "pmid": "" }, { "name": "protein import into 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The infection has_symptom anogenital warts.", "url": "https://disease-ontology.org/term/DOID:11168", "evidence": [ { "id": "11168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11168" } ], "weight": 0.0 }, { "disease_id": "DOID:12306", "name": "vitiligo", "description": "An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.", "url": "https://disease-ontology.org/term/DOID:12306", "evidence": [ { "id": "12306", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12306" } ], "weight": 0.0 }, { "disease_id": "DOID:12361", "name": "Graves' disease", "description": "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.", "url": "https://disease-ontology.org/term/DOID:12361", "evidence": [ { "id": "12361", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12361" } ], "weight": 0.0 }, { "disease_id": "DOID:12894", "name": "Sjogren's syndrome", "description": "An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.", "url": "https://disease-ontology.org/term/DOID:12894", "evidence": [ { "id": "12894", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12894" } ], "weight": 0.0 }, { "disease_id": "DOID:13207", "name": "proliferative diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:13207", "evidence": [ { "id": "13207", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13207" } ], "weight": 0.0 }, { "disease_id": "DOID:13241", "name": "Behcet's disease", "description": "An autoimmune disease that is characterized by mucocutaneous manifestations, including recurrent oral and genital ulcerations, ocular manifestations, especially chronic relapsing uveitis, and systemic vasculitis involving arteries and veins of all sizes.", "url": "https://disease-ontology.org/term/DOID:13241", "evidence": [ { "id": "13241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ], "weight": 0.0 }, { "disease_id": "DOID:13375", "name": "temporal arteritis", "description": "A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head.", "url": "https://disease-ontology.org/term/DOID:13375", "evidence": [ { "id": "13375", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13375" } ], "weight": 0.0 }, { "disease_id": "DOID:13774", "name": "Addison's disease", "description": "An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands.", "url": "https://disease-ontology.org/term/DOID:13774", "evidence": [ { "id": "13774", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13774" } ], "weight": 0.0 }, { "disease_id": "DOID:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:1459", "evidence": [ { "id": "1459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ], "weight": 0.0 }, { "disease_id": "DOID:1555", "name": "urticaria", "description": "A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis.", "url": "https://disease-ontology.org/term/DOID:1555", "evidence": [ { "id": "1555", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1555" } ], "weight": 0.0 }, { "disease_id": "DOID:1588", "name": "thrombocytopenia", "description": "A blood platelet disease that is characterized by low a platelet count in the blood.", "url": "https://disease-ontology.org/term/DOID:1588", "evidence": [ { "id": "1588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1588" } ], "weight": 0.0 }, { "disease_id": "DOID:2018", "name": "hyperinsulinism", "description": "", "url": "https://disease-ontology.org/term/DOID:2018", "evidence": [ { "id": "2018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2018" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID:289", "name": "endometriosis", "description": "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.", "url": "https://disease-ontology.org/term/DOID:289", "evidence": [ { "id": "289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:289" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3498", "name": "pancreatic ductal adenocarcinoma", "description": "A pancreatic adenocarcinoma that derives_from pancreatic duct cells.", "url": "https://disease-ontology.org/term/DOID:3498", "evidence": [ { "id": "3498", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3498" } ], "weight": 0.0 }, { "disease_id": "DOID:3717", "name": "gastric adenocarcinoma", "description": "A stomach carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3717", "evidence": [ { "id": "3717", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3717" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3907", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell.", "url": "https://disease-ontology.org/term/DOID:3907", "evidence": [ { "id": "3907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3907" } ], "weight": 0.0 }, { "disease_id": "DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix.", "url": "https://disease-ontology.org/term/DOID:4362", "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ], "weight": 0.0 }, { "disease_id": "DOID:437", "name": "myasthenia gravis", "description": "An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom shortness of breath.", "url": "https://disease-ontology.org/term/DOID:437", "evidence": [ { "id": "437", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:437" } ], "weight": 0.0 }, { "disease_id": "DOID:627", "name": "severe combined immunodeficiency", "description": "A combined T cell and B cell immunodeficiency that is caused by a defect in infection-fighting immune cells resulting in individuals with non-functional immune systems.", "url": "https://disease-ontology.org/term/DOID:627", "evidence": [ { "id": "627", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:627" } ], "weight": 0.0 }, { "disease_id": "DOID:676", "name": "systemic 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.", "url": "https://disease-ontology.org/term/DOID:676", "evidence": [ { "id": "676", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:676" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:7188", "name": "autoimmune thyroiditis", "description": "An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues.", "url": "https://disease-ontology.org/term/DOID:7188", "evidence": [ { "id": "7188", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7188" } ], "weight": 0.0 }, { "disease_id": "DOID:8466", "name": "retinal degeneration", "description": "A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.", "url": "https://disease-ontology.org/term/DOID:8466", "evidence": [ { "id": "8466", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8466" } ], "weight": 0.0 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"https://www.alliancegenome.org/disease/DOID:8924" } ], "weight": 0.0 }, { "disease_id": "DOID:9008", "name": "psoriatic arthritis", "description": "An arthritis that is characterized by joint inflammation that usually occurs in combination with psoriasis.", "url": "https://disease-ontology.org/term/DOID:9008", "evidence": [ { "id": "9008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9008" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9849", "name": "Meniere's disease", "description": "A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss.", "url": "https://disease-ontology.org/term/DOID:9849", "evidence": [ { "id": "9849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9849" } ], "weight": 0.0 }, { "disease_id": "DOID:986", "name": "alopecia areata", "description": "An autoimmune disease resulting in the loss of hair on the scalp and elsewhere 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No significant effects on affinity for inorganic phosphate. No significant effects on growth rates.", "evidence": [ { "database": "UniProtKB", "id": "P25297", "url": "https://www.uniprot.org/uniprotkb/P25297" }, { "database": "PubMed", "id": "22587366", "url": "https://glygen.org/publication/PubMed/22587366" } ] }, { "sequence_org": "R", "sequence_mut": "C", "comment": "Abolishes transport and signaling activities.", "evidence": [ { "database": "UniProtKB", "id": "P25297", "url": "https://www.uniprot.org/uniprotkb/P25297" }, { "database": "PubMed", "id": "20133652", "url": "https://glygen.org/publication/PubMed/20133652" } ] }, { "sequence_org": "R", "sequence_mut": "E", "comment": "Reduces transport activity. Moderately reduces affinity for inorganic phosphate. No significant effects on growth rates.", "evidence": [ { "database": "UniProtKB", "id": "P25297", "url": "https://www.uniprot.org/uniprotkb/P25297" }, { "database": "PubMed", "id": "22587366", "url": "https://glygen.org/publication/PubMed/22587366" } ] }, { "sequence_org": "R", "sequence_mut": "Q", "comment": "Reduces transport activity. Moderately reduces affinity for inorganic phosphate. Moderately reduces growth rates under low phosphate conditions. No significant effects on growth rates under high phosphate conditions.", "evidence": [ { "database": "UniProtKB", "id": "P25297", "url": "https://www.uniprot.org/uniprotkb/P25297" }, { "database": "PubMed", "id": "22587366", "url": "https://glygen.org/publication/PubMed/22587366" } ] } ] }, { "uniprot_canonical_ac": "P25297-1", "start_pos": "172", "end_pos": "172", "site_lbl": "Gly172", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Abolishes transport and signaling activities.", "evidence": [ { "database": "UniProtKB", "id": "P25297", "url": "https://www.uniprot.org/uniprotkb/P25297" }, { "database": "PubMed", "id": "20133652", "url": "https://glygen.org/publication/PubMed/20133652" } ] } ] }, { "uniprot_canonical_ac": "P25297-1", "start_pos": "174", "end_pos": "174", "site_lbl": "Gly174", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Abolishes transport and signaling activities.", "evidence": [ { "database": "UniProtKB", "id": "P25297", "url": "https://www.uniprot.org/uniprotkb/P25297" }, { "database": "PubMed", "id": "20133652", "url": "https://glygen.org/publication/PubMed/20133652" } ] } ] }, { "uniprot_canonical_ac": "P25297-1", "start_pos": "176", "end_pos": "176", "site_lbl": "Gly176", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Abolishes transport and signaling activities.", "evidence": [ { "database": "UniProtKB", "id": "P25297", "url": "https://www.uniprot.org/uniprotkb/P25297" }, { "database": "PubMed", "id": "20133652", "url": "https://glygen.org/publication/PubMed/20133652" } ] } ] }, { "uniprot_canonical_ac": "P25297-1", "start_pos": "178", "end_pos": "178", "site_lbl": "Asp178", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Reduces transport activity. No significant effects on affinity for inorganic phosphate. No significant effects on signaling activities. No significant effects on growth rates.", "evidence": [ { "database": "UniProtKB", "id": "P25297", "url": "https://www.uniprot.org/uniprotkb/P25297" }, { "database": "PubMed", "id": "22587366", "url": "https://glygen.org/publication/PubMed/22587366" } ] }, { "sequence_org": "D", "sequence_mut": "N", "comment": "Reduces transport activity. No significant effects on affinity for inorganic phosphate. No significant effects on signaling activities. No significant effects on growth rates.", "evidence": [ { "database": "UniProtKB", "id": "P25297", "url": "https://www.uniprot.org/uniprotkb/P25297" }, { "database": "PubMed", "id": "22587366", "url": "https://glygen.org/publication/PubMed/22587366" } ] } ] }, { "uniprot_canonical_ac": "P25297-1", "start_pos": "179", "end_pos": "179", "site_lbl": "Tyr179", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Significantly reduces transport activity. Causes pronounced increase in secreted phosphatase activity under high phosphate conditions. Reduces growth rates under low phosphate conditions. Slightly reduces signaling activity.", "evidence": [ { "database": "UniProtKB", "id": "P25297", "url": "https://www.uniprot.org/uniprotkb/P25297" }, { "database": "PubMed", "id": "27875295", "url": "https://glygen.org/publication/PubMed/27875295" } ] }, { "sequence_org": "Y", "sequence_mut": "F", "comment": "No significant effects on transport activity. No significant effects on growth rates under low phosphate conditions. Does not affect patterns of secreted phosphatase activities under low and high phosphate conditions. No significant effects on signaling activity.", "evidence": [ { "database": "UniProtKB", "id": "P25297", "url": "https://www.uniprot.org/uniprotkb/P25297" }, { "database": "PubMed", "id": "27875295", "url": "https://glygen.org/publication/PubMed/27875295" } ] }, { "sequence_org": "Y", "sequence_mut": "G", "comment": "Abolishes transport activity. Causes pronounced increase in secreted phosphatase activity under high phosphate conditions. Reduces growth rates under low phosphate conditions. Abolishes signaling activity.", "evidence": [ { "database": "UniProtKB", "id": "P25297", "url": "https://www.uniprot.org/uniprotkb/P25297" }, { "database": "PubMed", "id": "27875295", "url": "https://glygen.org/publication/PubMed/27875295" } ] }, { "sequence_org": "Y", "sequence_mut": "S", "comment": "No significant effects on transport activity. No significant effects on growth rates under low phosphate conditions. Does not affect patterns of secreted phosphatase activities under low and high phosphate conditions. No significant effects on signaling activity.", "evidence": [ { "database": "UniProtKB", "id": "P25297", "url": "https://www.uniprot.org/uniprotkb/P25297" }, { "database": "PubMed", "id": "27875295", "url": "https://glygen.org/publication/PubMed/27875295" } ] } ] }, { "uniprot_canonical_ac": "P25297-1", "start_pos": "237", "end_pos": "237", "site_lbl": "Cys237", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "No significant effect on transport activity; when associated with S-145, S-241, S-245, S-263, S-335, S-399, S-434, S-455, S-474, S-510 and S-519.", "evidence": [ { "database": "UniProtKB", "id": "P25297", "url": "https://www.uniprot.org/uniprotkb/P25297" }, { "database": "PubMed", "id": "11573939", "url": "https://glygen.org/publication/PubMed/11573939" } ] } ] }, { "uniprot_canonical_ac": "P25297-1", "start_pos": "241", "end_pos": "241", "site_lbl": "Cys241", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "No significant effect on transport activity; when associated with S-145, S-237, S-245, S-263, S-335, S-399, S-434, S-455, S-474, S-510 and S-519.", "evidence": [ { "database": "UniProtKB", "id": "P25297", "url": "https://www.uniprot.org/uniprotkb/P25297" }, { "database": "PubMed", "id": "11573939", "url": "https://glygen.org/publication/PubMed/11573939" } ] } ] }, { "uniprot_canonical_ac": "P25297-1", "start_pos": "245", "end_pos": "245", "site_lbl": "Cys245", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "No significant effect on transport activity; when associated with S-145, S-237, S-241, S-263, S-335, S-399, S-434, S-455, S-474, S-510 and S-519.", "evidence": [ { "database": "UniProtKB", "id": "P25297", "url": "https://www.uniprot.org/uniprotkb/P25297" }, { "database": "PubMed", "id": "11573939", "url": "https://glygen.org/publication/PubMed/11573939" } ] } ] }, { "uniprot_canonical_ac": "P25297-1", "start_pos": "263", "end_pos": "263", "site_lbl": "Cys263", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "No significant effect on transport activity; when associated with S-145, S-237, S-241, S-245, S-335, S-399, S-434, S-455, S-474, S-510 and S-519.", "evidence": [ { "database": "UniProtKB", "id": "P25297", "url": "https://www.uniprot.org/uniprotkb/P25297" }, { "database": "PubMed", "id": "11573939", "url": "https://glygen.org/publication/PubMed/11573939" } ] } ] }, { "uniprot_canonical_ac": "P25297-1", "start_pos": "298", "end_pos": "298", "site_lbl": "Lys298", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "No significant effect on membrane localization under low phosphate conditions and internalization after phosphate addition. Strongly affects vacuolar sorting of the protein after internalization.", "evidence": [ { "database": "UniProtKB", "id": "P25297", "url": "https://www.uniprot.org/uniprotkb/P25297" }, { "database": "PubMed", "id": "19348508", "url": "https://glygen.org/publication/PubMed/19348508" } ] } ] }, { "uniprot_canonical_ac": "P25297-1", "start_pos": "335", "end_pos": "335", "site_lbl": "Cys335", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "No significant effect on transport activity; when associated with S-145, S-237, S-241, S-245, S-263, S-399, S-434, S-455, S-474, S-510 and S-519.", "evidence": [ { "database": "UniProtKB", "id": "P25297", "url": "https://www.uniprot.org/uniprotkb/P25297" }, { "database": "PubMed", "id": "11573939", "url": "https://glygen.org/publication/PubMed/11573939" } ] } ] }, { "uniprot_canonical_ac": "P25297-1", "start_pos": "358", "end_pos": "358", "site_lbl": "Asp358", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Abolishes transport activity. Causes pronounced increase in secreted phosphatase activity under high phosphate conditions. Moderately decreases signaling activities. Significantly reduces growth rates under low phosphate conditions. No significant effects on growth rates under high phosphate conditions.", "evidence": [ { "database": "UniProtKB", "id": "P25297", "url": "https://www.uniprot.org/uniprotkb/P25297" }, { "database": "PubMed", "id": "22587366", "url": "https://glygen.org/publication/PubMed/22587366" } ] }, { "sequence_org": "D", "sequence_mut": "N", "comment": "Significantly reduces transport activity. No significant effects on affinity for inorganic phosphate. Causes pronounced increase in secreted phosphatase activity under high phosphate conditions. No significant effects on signaling activities. Significantly reduces growth rates under low phosphate conditions. No significant effects on growth rates under high phosphate conditions.", "evidence": [ { "database": "UniProtKB", "id": "P25297", "url": "https://www.uniprot.org/uniprotkb/P25297" }, { "database": "PubMed", "id": "22587366", "url": "https://glygen.org/publication/PubMed/22587366" } ] } ] }, { "uniprot_canonical_ac": "P25297-1", "start_pos": "392", "end_pos": "392", "site_lbl": "Val392", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "C", "comment": "Reduces transport and signaling activities.", "evidence": [ { "database": "UniProtKB", "id": "P25297", "url": "https://www.uniprot.org/uniprotkb/P25297" }, { "database": "PubMed", "id": "20133652", "url": "https://glygen.org/publication/PubMed/20133652" } ] } ] }, { "uniprot_canonical_ac": "P25297-1", "start_pos": "399", "end_pos": "399", "site_lbl": "Cys399", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "No significant effect on transport activity; when associated with S-145, S-237, S-241, S-245, S-263, S-335, S-434, S-455, S-474, S-510 and S-519.", "evidence": [ { "database": "UniProtKB", "id": "P25297", "url": "https://www.uniprot.org/uniprotkb/P25297" }, { "database": "PubMed", "id": "11573939", "url": "https://glygen.org/publication/PubMed/11573939" } ] } ] }, { "uniprot_canonical_ac": "P25297-1", "start_pos": "408", "end_pos": "408", "site_lbl": "Val408", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "C", "comment": "Reduces signaling activity and enhances transport activity.", "evidence": [ { "database": "UniProtKB", "id": "P25297", "url": "https://www.uniprot.org/uniprotkb/P25297" }, { "database": "PubMed", "id": "20133652", "url": "https://glygen.org/publication/PubMed/20133652" } ] } ] }, { "uniprot_canonical_ac": "P25297-1", "start_pos": "434", "end_pos": "434", "site_lbl": "Cys434", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "No significant effect on transport activity; when associated with S-145, S-237, S-241, S-245, S-263, S-335, S-399, S-455, S-474, S-510 and S-519.", "evidence": [ { "database": "UniProtKB", "id": "P25297", "url": "https://www.uniprot.org/uniprotkb/P25297" }, { "database": "PubMed", "id": "11573939", "url": "https://glygen.org/publication/PubMed/11573939" } ] } ] }, { "uniprot_canonical_ac": "P25297-1", "start_pos": "455", "end_pos": "455", "site_lbl": "Cys455", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "No significant effect on transport activity; when associated with S-145, S-237, S-241, S-245, S-263, S-335, S-399, S-434, S-474, S-510 and S-519.", "evidence": [ { "database": "UniProtKB", "id": "P25297", "url": "https://www.uniprot.org/uniprotkb/P25297" }, { "database": "PubMed", "id": "11573939", "url": "https://glygen.org/publication/PubMed/11573939" } ] } ] }, { "uniprot_canonical_ac": "P25297-1", "start_pos": "473", "end_pos": "473", "site_lbl": "Glu473", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "No significant effects on transport activity. No significant effects on affinity for inorganic phosphate. No significant effects on growth rates.", "evidence": [ { "database": "UniProtKB", "id": "P25297", "url": "https://www.uniprot.org/uniprotkb/P25297" }, { "database": "PubMed", "id": "22587366", "url": "https://glygen.org/publication/PubMed/22587366" } ] }, { "sequence_org": "E", "sequence_mut": "Q", "comment": "No significant effects on transport activity. Reduces affinity for inorganic phosphate. No significant effects on growth rates.", "evidence": [ { "database": "UniProtKB", "id": "P25297", "url": "https://www.uniprot.org/uniprotkb/P25297" }, { "database": "PubMed", "id": "22587366", "url": "https://glygen.org/publication/PubMed/22587366" } ] } ] }, { "uniprot_canonical_ac": "P25297-1", "start_pos": "474", "end_pos": "474", "site_lbl": "Cys474", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "No significant effect on transport activity; when associated with S-145, S-237, S-241, S-245, S-263, S-335, S-399, S-434, S-455, S-510 and S-519.", "evidence": [ { "database": "UniProtKB", "id": "P25297", "url": "https://www.uniprot.org/uniprotkb/P25297" }, { "database": "PubMed", "id": "11573939", "url": "https://glygen.org/publication/PubMed/11573939" } ] } ] }, { "uniprot_canonical_ac": "P25297-1", "start_pos": "492", "end_pos": "492", "site_lbl": "Lys492", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "No significant effects on transport activity. Reduces affinity for inorganic phosphate. No significant effects on growth rates.", "evidence": [ { "database": "UniProtKB", "id": "P25297", "url": "https://www.uniprot.org/uniprotkb/P25297" }, { "database": "PubMed", "id": "22587366", "url": "https://glygen.org/publication/PubMed/22587366" } ] }, { "sequence_org": "K", "sequence_mut": "E", "comment": "Reduces transport activity. Reduces affinity for inorganic phosphate. Significantly reduces growth rates under low phosphate conditions. No significant effects on growth rates under high phosphate conditions.", "evidence": [ { "database": "UniProtKB", "id": "P25297", "url": "https://www.uniprot.org/uniprotkb/P25297" }, { "database": "PubMed", "id": "22587366", "url": "https://glygen.org/publication/PubMed/22587366" } ] }, { "sequence_org": "K", "sequence_mut": "Q", "comment": "No significant effects on transport activity. Reduces affinity for inorganic phosphate. No significant effects on growth rates.", "evidence": [ { "database": "UniProtKB", "id": "P25297", "url": "https://www.uniprot.org/uniprotkb/P25297" }, { "database": "PubMed", "id": "22587366", "url": "https://glygen.org/publication/PubMed/22587366" } ] } ] }, { "uniprot_canonical_ac": "P25297-1", "start_pos": "510", "end_pos": "510", "site_lbl": "Cys510", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "No significant effect on transport activity; when associated with S-145, S-237, S-241, S-245, S-263, S-335, S-399, S-434, S-455, S-474 and S-519.", "evidence": [ { "database": "UniProtKB", "id": "P25297", "url": "https://www.uniprot.org/uniprotkb/P25297" }, { "database": "PubMed", "id": "11573939", "url": "https://glygen.org/publication/PubMed/11573939" } ] } ] }, { "uniprot_canonical_ac": "P25297-1", "start_pos": "519", "end_pos": "519", "site_lbl": "Cys519", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "No significant effect on transport activity; when associated with S-145, S-237, S-241, S-245, S-263, S-335, S-399, S-434, S-455, S-474 and S-510.", "evidence": [ { "database": "UniProtKB", "id": "P25297", "url": "https://www.uniprot.org/uniprotkb/P25297" }, { "database": "PubMed", "id": "11573939", "url": "https://glygen.org/publication/PubMed/11573939" } ] } ] } ], "record_id": "batch.yeast.5" }, { "uniprot_canonical_ac": "P25298-1", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "evidence": [ { "database": "UniProtKB", "id": "P25298", "url": "https://www.uniprot.org/uniprotkb/P25298" } ], "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "length": 677, "chemical_mass": 79960.0, "gene_names": "RNA14;RNA14;YM9796.14", "protein_name": "mRNA 3'-end-processing protein RNA14", "disease": [], "molecular_function": [ { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "P25298", "url": "https://www.uniprot.org/uniprotkb/P25298" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P25298", "url": "https://www.uniprot.org/uniprotkb/P25298" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P25298", "url": "https://www.uniprot.org/uniprotkb/P25298" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P25298", "url": "https://www.uniprot.org/uniprotkb/P25298" } ], "pmid": "" }, { "name": "mRNA cleavage stimulating factor complex", "id": "GO:0005848", "url": 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"weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Causes strong defects in MutS alpha mismatch binding. Defective in MMR, but not in NHTR.", "evidence": [ { "database": "UniProtKB", "id": "P25847", "url": "https://www.uniprot.org/uniprotkb/P25847" }, { "database": "PubMed", "id": "12875840", "url": "https://glygen.org/publication/PubMed/12875840" } ] } ] }, { "uniprot_canonical_ac": "P25847-1", "start_pos": "564", "end_pos": "564", "site_lbl": "Lys564", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Causes strong defects in MutS alpha mismatch binding. 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Defective in MMR, but not in NHTR.", "evidence": [ { "database": "UniProtKB", "id": "P25847", "url": "https://www.uniprot.org/uniprotkb/P25847" }, { "database": "PubMed", "id": "12875840", "url": "https://glygen.org/publication/PubMed/12875840" } ] } ] }, { "uniprot_canonical_ac": "P25847-1", "start_pos": "658", "end_pos": "658", "site_lbl": "His658", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Fully functional in a mismatch repair assay.", "evidence": [ { "database": "UniProtKB", "id": "P25847", "url": "https://www.uniprot.org/uniprotkb/P25847" }, { "database": "PubMed", "id": "11555625", "url": "https://glygen.org/publication/PubMed/11555625" } ] } ] }, { "uniprot_canonical_ac": "P25847-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Lys65", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Defective in a mismatch repair assay.", "evidence": [ { "database": "UniProtKB", "id": "P25847", "url": "https://www.uniprot.org/uniprotkb/P25847" }, { "database": "PubMed", "id": "11641390", "url": "https://glygen.org/publication/PubMed/11641390" } ] } ] }, { "uniprot_canonical_ac": "P25847-1", "start_pos": "688", "end_pos": "688", "site_lbl": "Gly688", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Moderately reduced activity in a mismatch repair assay.", "evidence": [ { "database": "UniProtKB", "id": "P25847", "url": "https://www.uniprot.org/uniprotkb/P25847" }, { "database": "PubMed", "id": "10077621", "url": "https://glygen.org/publication/PubMed/10077621" } ] } ] }, { "uniprot_canonical_ac": "P25847-1", "start_pos": "693", "end_pos": "693", "site_lbl": "Gly693", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Has a dominant negative mutator effect.", "evidence": [ { "database": "UniProtKB", "id": "P25847", "url": "https://www.uniprot.org/uniprotkb/P25847" }, { "database": "PubMed", "id": "10077621", "url": "https://glygen.org/publication/PubMed/10077621" }, { "database": "PubMed", "id": "9819445", "url": "https://glygen.org/publication/PubMed/9819445" } ] }, { "sequence_org": "G", "sequence_mut": "D", "comment": "Has no defect in mismatch DNA binding, but lacks ATP-induced conformational change. Defective in MMR and in NHTR.", "evidence": [ { "database": "UniProtKB", "id": "P25847", "url": "https://www.uniprot.org/uniprotkb/P25847" }, { "database": "PubMed", "id": "10077621", "url": "https://glygen.org/publication/PubMed/10077621" }, { "database": "PubMed", "id": "9819445", "url": "https://glygen.org/publication/PubMed/9819445" } ] }, { "sequence_org": "G", "sequence_mut": "S", "comment": "Has a dominant negative mutator effect.", "evidence": [ { "database": "UniProtKB", "id": "P25847", "url": "https://www.uniprot.org/uniprotkb/P25847" }, { "database": "PubMed", "id": "10077621", "url": "https://glygen.org/publication/PubMed/10077621" }, { "database": "PubMed", "id": "9819445", "url": "https://glygen.org/publication/PubMed/9819445" } ] } ] }, { "uniprot_canonical_ac": "P25847-1", "start_pos": "694", "end_pos": "694", "site_lbl": "Lys694", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Impairs ATP binding; reduces catalytic activity 1.6-fold for ATP hydrolysis. Has a dominant negative mutator effect.", "evidence": [ { "database": "UniProtKB", "id": "P25847", "url": "https://www.uniprot.org/uniprotkb/P25847" }, { "database": "PubMed", "id": "10077621", "url": "https://glygen.org/publication/PubMed/10077621" }, { "database": "PubMed", "id": "16214425", "url": "https://glygen.org/publication/PubMed/16214425" }, { "database": "PubMed", "id": "16600868", "url": "https://glygen.org/publication/PubMed/16600868" } ] }, { "sequence_org": "K", "sequence_mut": "R", "comment": "Defective in MMR and in NHTR.", "evidence": [ { "database": "UniProtKB", "id": "P25847", "url": "https://www.uniprot.org/uniprotkb/P25847" }, { "database": "PubMed", "id": "10077621", "url": "https://glygen.org/publication/PubMed/10077621" }, { "database": "PubMed", "id": "16214425", "url": "https://glygen.org/publication/PubMed/16214425" }, { "database": "PubMed", "id": "16600868", "url": "https://glygen.org/publication/PubMed/16600868" } ] } ] }, { "uniprot_canonical_ac": "P25847-1", "start_pos": "695", "end_pos": "695", "site_lbl": "Ser695", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Has a dominant negative mutator effect.", "evidence": [ { "database": "UniProtKB", "id": "P25847", "url": "https://www.uniprot.org/uniprotkb/P25847" }, { "database": "PubMed", "id": "10077621", "url": "https://glygen.org/publication/PubMed/10077621" } ] } ] }, { "uniprot_canonical_ac": "P25847-1", "start_pos": "716", "end_pos": "716", "site_lbl": "Cys716", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "F", "comment": "Defective in a mismatch repair assay.", "evidence": [ { "database": "UniProtKB", "id": "P25847", "url": "https://www.uniprot.org/uniprotkb/P25847" }, { "database": "PubMed", "id": "10469597", "url": "https://glygen.org/publication/PubMed/10469597" } ] } ] }, { "uniprot_canonical_ac": "P25847-1", "start_pos": "730", "end_pos": "730", "site_lbl": "Arg730", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Disrupts MutS alpha ATPase activity, but does not affect ATP binding or interactions with MutL alpha. Defective in MMR, but not in NHTR.", "evidence": [ { "database": "UniProtKB", "id": "P25847", "url": "https://www.uniprot.org/uniprotkb/P25847" }, { "database": "PubMed", "id": "12875840", "url": "https://glygen.org/publication/PubMed/12875840" } ] } ] }, { "uniprot_canonical_ac": "P25847-1", "start_pos": "742", "end_pos": "742", "site_lbl": "Ser742", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Defective in MMR, but not in NHTR.", "evidence": [ { "database": "UniProtKB", "id": "P25847", "url": "https://www.uniprot.org/uniprotkb/P25847" }, { "database": "PubMed", "id": "10523644", "url": "https://glygen.org/publication/PubMed/10523644" } ] }, { "sequence_org": "S", "sequence_mut": "P", "comment": "Defective in MMR and in NHTR.", "evidence": [ { "database": "UniProtKB", "id": "P25847", "url": "https://www.uniprot.org/uniprotkb/P25847" }, { "database": "PubMed", "id": "10523644", "url": "https://glygen.org/publication/PubMed/10523644" } ] } ] }, { "uniprot_canonical_ac": "P25847-1", "start_pos": "768", "end_pos": "768", "site_lbl": "Glu768", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Reduces catalytic activity 50-fold for ATP hydrolysis.", "evidence": [ { "database": "UniProtKB", "id": "P25847", "url": "https://www.uniprot.org/uniprotkb/P25847" }, { "database": "PubMed", "id": "12509278", "url": "https://glygen.org/publication/PubMed/12509278" }, { "database": "PubMed", "id": "16214425", "url": "https://glygen.org/publication/PubMed/16214425" }, { "database": "PubMed", "id": "15513922", "url": "https://glygen.org/publication/PubMed/15513922" } ] } ] }, { "uniprot_canonical_ac": "P25847-1", "start_pos": "773", "end_pos": "773", "site_lbl": "Thr773", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Defective in MMR and in NHTR.", "evidence": [ { "database": "UniProtKB", "id": "P25847", "url": "https://www.uniprot.org/uniprotkb/P25847" }, { "database": "PubMed", "id": "10523644", "url": "https://glygen.org/publication/PubMed/10523644" } ] } ] }, { "uniprot_canonical_ac": "P25847-1", "start_pos": "855", "end_pos": "855", "site_lbl": "Gly855", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Defective in MMR, but not in NHTR.", "evidence": [ { "database": "UniProtKB", "id": "P25847", "url": "https://www.uniprot.org/uniprotkb/P25847" }, { "database": "PubMed", "id": "10523644", "url": "https://glygen.org/publication/PubMed/10523644" } ] } ] }, { "uniprot_canonical_ac": "P25847-1", "start_pos": "859", "end_pos": "859", "site_lbl": "Ala859", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "E", "comment": "Defective in MMR, but not in NHTR.", "evidence": [ { "database": "UniProtKB", "id": "P25847", "url": "https://www.uniprot.org/uniprotkb/P25847" }, { "database": "PubMed", "id": "10523644", "url": "https://glygen.org/publication/PubMed/10523644" } ] } ] }, { "uniprot_canonical_ac": "P25847-1", "start_pos": "862", "end_pos": "862", "site_lbl": "Val862", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "D", "comment": "Defective in MMR, but not in NHTR.", "evidence": [ { "database": "UniProtKB", "id": "P25847", "url": "https://www.uniprot.org/uniprotkb/P25847" }, { "database": "PubMed", "id": "10523644", "url": "https://glygen.org/publication/PubMed/10523644" } ] } ] } ], "record_id": "batch.yeast.5" }, { "uniprot_canonical_ac": "P26188-1", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "evidence": [ { "database": "UniProtKB", "id": "P26188", "url": "https://www.uniprot.org/uniprotkb/P26188" } ], "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "length": 188, "chemical_mass": 21499.0, "gene_names": "MGT1;D1204;MGT1", "protein_name": "Methylated-DNA--protein-cysteine methyltransferase", "disease": [ { "disease_id": 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"name": "pancreatic endocrine carcinoma", "description": "An islet cell tumor that has_material_basis_in epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1798", "evidence": [ { "id": "1798", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1798" } ], "weight": 0.0 }, { "disease_id": "DOID:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.", "url": "https://disease-ontology.org/term/DOID:1909", "evidence": [ { "id": "1909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ], "weight": 0.0 }, { "disease_id": "DOID:234", "name": "colon adenocarcinoma", "description": "A colon carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:234", "evidence": [ { "id": "234", "database": "AGR", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0006569", "evidence": [ { "database": "UniProtKB", "id": "P26263", "url": "https://www.uniprot.org/uniprotkb/P26263" } ], "pmid": "" }, { "name": "branched-chain amino acid catabolic process", "id": "GO:0009083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009083", "evidence": [ { "database": "UniProtKB", "id": "P26263", "url": "https://www.uniprot.org/uniprotkb/P26263" } ], "pmid": "" }, { "name": "L-phenylalanine catabolic process", "id": "GO:0006559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006559", "evidence": [ { "database": "UniProtKB", "id": "P26263", "url": "https://www.uniprot.org/uniprotkb/P26263" } ], "pmid": "" }, { "name": "ethanol metabolic process", "id": "GO:0006067", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006067", "evidence": [ { "database": "UniProtKB", "id": "P26263", "url": "https://www.uniprot.org/uniprotkb/P26263" } ], "pmid": "" }, { "name": "aromatic amino acid family catabolic process to alcohol via Ehrlich pathway", "id": "GO:0000949", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000949", "evidence": [ { "database": "UniProtKB", "id": "P26263", "url": "https://www.uniprot.org/uniprotkb/P26263" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P26263-1", "start_pos": "223", "end_pos": "223", "site_lbl": "Ser223", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26263", "url": "https://www.uniprot.org/uniprotkb/P26263" }, { "database": "iPTMnet", "id": "P26263", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P26263" }, { "database": "PubMed", "id": "21177495", "url": "https://glygen.org/publication/PubMed/21177495" } ] } ] }, { "uniprot_canonical_ac": "P26263-1", "start_pos": "251", "end_pos": "251", "site_lbl": "Ser251", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", 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"description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:10286", "name": "prostate carcinoma", "description": "A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:10286", "evidence": [ { "id": "10286", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10286" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": 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excessive, irrational dread of everyday situations.", "url": "https://disease-ontology.org/term/DOID:2030", "evidence": [ { "id": "2030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2030" } ], "weight": 0.0 }, { "disease_id": "DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:289", "name": "endometriosis", "description": "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.", "url": "https://disease-ontology.org/term/DOID:289", "evidence": [ { "id": "289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:289" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3328", "name": "temporal lobe epilepsy", "description": "A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.", "url": "https://disease-ontology.org/term/DOID:3328", "evidence": [ { "id": "3328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3328" } ], "weight": 0.0 }, { "disease_id": "DOID:3459", "name": "breast carcinoma", "description": "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3459", "evidence": [ { "id": "3459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3459" } ], "weight": 0.0 }, { "disease_id": "DOID:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ], "weight": 0.0 }, { "disease_id": "DOID:6132", "name": "bronchitis", "description": "A bronchial disease that is an inflammation of the bronchial tubes. It is caused by bacteria and viruses. The disease has_symptom cough with mucus, has_symptom shortness of breath, has_symptom low fever and has_symptom chest tightness.", "url": "https://disease-ontology.org/term/DOID:6132", "evidence": [ { "id": "6132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6132" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:8616", "name": "Peyronie's disease", "description": "", "url": "https://disease-ontology.org/term/DOID:8616", "evidence": [ { "id": "8616", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8616" } ], "weight": 0.0 }, { "disease_id": "DOID:8634", "name": "prostate carcinoma in situ", "description": "An in situ carcinoma that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:8634", "evidence": [ { "id": "8634", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8634" } ], "weight": 0.0 }, { "disease_id": "DOID:8991", "name": "cervix uteri carcinoma in situ", "description": "An uterus carcinoma in situ that is located_in the uterine cervix.", "url": "https://disease-ontology.org/term/DOID:8991", "evidence": [ { "id": "8991", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8991" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9675", "name": "pulmonary emphysema", "description": "A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls.", "url": "https://disease-ontology.org/term/DOID:9675", "evidence": [ { "id": "9675", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9675" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:986", "name": "alopecia areata", "description": "An autoimmune disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots.", "url": "https://disease-ontology.org/term/DOID:986", "evidence": [ { "id": "986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:986" } ], "weight": 0.0 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of DNA-templated DNA replication initiation", "id": "GO:0030174", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030174", "evidence": [ { "database": "UniProtKB", "id": "P32561", "url": "https://www.uniprot.org/uniprotkb/P32561" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "P32561", "url": "https://www.uniprot.org/uniprotkb/P32561" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "P32561", "url": "https://www.uniprot.org/uniprotkb/P32561" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "P32561", "url": "https://www.uniprot.org/uniprotkb/P32561" } ], "pmid": "" }, { 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"url": "https://www.uniprot.org/uniprotkb/P32561" } ], "pmid": "" }, { "name": "nucleophagy", "id": "GO:0044804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044804", "evidence": [ { "database": "UniProtKB", "id": "P32561", "url": "https://www.uniprot.org/uniprotkb/P32561" } ], "pmid": "" }, { "name": "cellular response to nitrogen starvation", "id": "GO:0006995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006995", "evidence": [ { "database": "UniProtKB", "id": "P32561", "url": "https://www.uniprot.org/uniprotkb/P32561" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase I", "id": "GO:0016479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016479", "evidence": [ { "database": "UniProtKB", "id": "P32561", "url": "https://www.uniprot.org/uniprotkb/P32561" } ], "pmid": "" }, { "name": "negative regulation of rDNA heterochromatin formation", "id": "GO:0061188", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061188", "evidence": [ { "database": "UniProtKB", "id": "P32561", "url": "https://www.uniprot.org/uniprotkb/P32561" } ], "pmid": "" }, { "name": "meiotic cell cycle", "id": "GO:0051321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051321", "evidence": [ { "database": "UniProtKB", "id": "P32561", "url": "https://www.uniprot.org/uniprotkb/P32561" } ], "pmid": "" }, { "name": "heterochromatin formation", "id": "GO:0031507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031507", "evidence": [ { "database": "UniProtKB", "id": "P32561", "url": "https://www.uniprot.org/uniprotkb/P32561" } ], "pmid": "" }, { "name": "negative regulation of reciprocal meiotic recombination", "id": "GO:0045128", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045128", "evidence": [ { "database": "UniProtKB", "id": "P32561", "url": "https://www.uniprot.org/uniprotkb/P32561" } ], "pmid": "" }, { "name": "rDNA chromatin condensation", "id": "GO:0070550", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070550", "evidence": [ { "database": "UniProtKB", "id": "P32561", "url": "https://www.uniprot.org/uniprotkb/P32561" } ], "pmid": "" }, { "name": "protein localization to nucleolar rDNA repeats", "id": "GO:0034503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034503", "evidence": [ { "database": "UniProtKB", "id": "P32561", "url": "https://www.uniprot.org/uniprotkb/P32561" } ], "pmid": "" }, { "name": "negative regulation of silent mating-type cassette heterochromatin formation", "id": "GO:0061186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061186", "evidence": [ { "database": "UniProtKB", "id": "P32561", "url": "https://www.uniprot.org/uniprotkb/P32561" } ], "pmid": "" } ], "molecular_function": [ { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "P32561", "url": "https://www.uniprot.org/uniprotkb/P32561" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", 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