[ { "uniprot_canonical_ac": "P02452-1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "length": 1464, "chemical_mass": 138911.0, "gene_names": "COL1A1;CAFYD;COL1A1;EDSARTH1;EDSC;OI1;OI2;OI3;OI4", "protein_name": "Collagen alpha-1(I) chain", "disease": [ { "disease_id": "DOID:0050827", "name": "rheumatic heart disease", "description": "A heart valve disease that is characterized by repeated inflammation with fibrinous repair caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords.", "url": "https://disease-ontology.org/term/DOID:0050827", "evidence": [ { "id": "0050827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050827" } ], "weight": 0.0 }, { "disease_id": "DOID:0051065", "name": "chronic pancreatitis", "description": "A pancreatitis that is characterized by long-term inflamation of the pancreas.", "url": "https://disease-ontology.org/term/DOID:0051065", "evidence": [ { "id": "0051065", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051065" } ], "weight": 0.0 }, { "disease_id": "DOID:0061206", "name": "maple syrup urine disease type IB", "description": "A maple syrup urine disease that is characterized by mental and physical retardation, feeding problems, and a maple syrup odor to the urine and that has_material_basis_in homozygous or compound heterozygous mutation in the BCKDHB gene, which encodes a subunit of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), on chromosome 6q14.", "url": "https://disease-ontology.org/term/DOID:0061206", "evidence": [ { "id": "0061206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061206" }, { "id": "0061206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061206" } ], "weight": 0.0 }, { "disease_id": "DOID:0080162", "name": "lupus nephritis", "description": "A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus.", "url": "https://disease-ontology.org/term/DOID:0080162", "evidence": [ { "id": "0080162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080162" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. 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:0080727", "name": "Ehlers-Danlos syndrome arthrochalasia type 1", "description": "An Ehlers-Danlos syndrome that is characterized by hypermobility in infants with dislocations of both hips at birth and has_material_basis_in heterozygous mutation in the COL1A1 gene on chromosome 17q21.", "url": "https://disease-ontology.org/term/DOID:0080727", "evidence": [ { "id": "130060", "database": "MIM", "url": "https://www.omim.org/entry/130060" }, { "id": "0080727", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080727" } ], "weight": 0.0 }, { "disease_id": "DOID:0110334", "name": "osteogenesis imperfecta type 1", "description": "An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.", "url": "https://disease-ontology.org/term/DOID:0110334", "evidence": [ { "id": "166200", "database": "MIM", "url": "https://www.omim.org/entry/166200" }, { "id": "0110334", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110334" } ], "weight": 0.0 }, { "disease_id": "DOID:0110339", "name": "osteogenesis imperfecta type 3", "description": "An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.", "url": "https://disease-ontology.org/term/DOID:0110339", "evidence": [ { "id": "0110339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110339" } ], "weight": 0.0 }, { "disease_id": "DOID:0110340", "name": "osteogenesis imperfecta type 4", "description": "An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.", "url": "https://disease-ontology.org/term/DOID:0110340", "evidence": [ { "id": "166220", "database": "MIM", "url": "https://www.omim.org/entry/166220" }, { "id": "0110340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110340" }, { "id": "0110340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110340" } ], "weight": 0.0 }, { "disease_id": "DOID:0110341", "name": "osteogenesis imperfecta type 2", "description": "An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.", "url": "https://disease-ontology.org/term/DOID:0110341", "evidence": [ { "id": "0110341", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110341" } ], "weight": 0.0 }, { "disease_id": "DOID:11476", "name": "osteoporosis", "description": "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength.", "url": "https://disease-ontology.org/term/DOID:11476", "evidence": [ { "id": "11476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11476" } ], "weight": 0.0 }, { "disease_id": "DOID:12185", "name": "otosclerosis", "description": "An otitis interna characterized by isolated endochondral bone sclerosis of the labyrinthine capsule.", "url": "https://disease-ontology.org/term/DOID:12185", "evidence": [ { "id": "12185", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12185" } ], "weight": 0.0 }, { "disease_id": "DOID:12236", "name": "primary biliary cholangitis", "description": "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.", "url": "https://disease-ontology.org/term/DOID:12236", "evidence": [ { "id": "12236", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12236" } ], "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:12347", "name": "osteogenesis imperfecta", "description": "An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue.", "url": "https://disease-ontology.org/term/DOID:12347", "evidence": [ { "id": "12347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12347" } ], "weight": 0.0 }, { "disease_id": "DOID:12351", "name": "alcoholic hepatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:12351", "evidence": [ { "id": "12351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12351" } ], "weight": 0.0 }, { "disease_id": "DOID:13359", "name": "Ehlers-Danlos syndrome", "description": "A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules.", "url": "https://disease-ontology.org/term/DOID:13359", "evidence": [ { "id": "13359", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13359" } ], "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:13948", "name": "bladder neck obstruction", "description": "", "url": "https://disease-ontology.org/term/DOID:13948", "evidence": [ { "id": "13948", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13948" } ], "weight": 0.0 }, { "disease_id": "DOID:14004", "name": "thoracic aortic aneurysm", "description": "An aortic aneurysm that is located_in the thoracic aorta.", "url": "https://disease-ontology.org/term/DOID:14004", "evidence": [ { "id": "14004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14004" } ], "weight": 0.0 }, { "disease_id": "DOID:14720", "name": "Ehlers-Danlos syndrome classic type 1", "description": "An Ehlers-Danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has_material_basis_in heterozygous mutation in the collagen alpha-1(V) gene (COL5A1) on chromosome 9q34.", "url": "https://disease-ontology.org/term/DOID:14720", "evidence": [ { "id": "14720", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14720" }, { "id": "14720", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14720" } ], "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: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: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:3507", "name": "dermatofibrosarcoma protuberans", "description": "A fibrosarcoma that is located_in the dermis laryer of the skin and that begins as a hard nodule and grows slowly.", "url": "https://disease-ontology.org/term/DOID:3507", "evidence": [ { "id": "607907", "database": "MIM", "url": "https://www.omim.org/entry/607907" }, { "id": "3507", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3507" }, { "id": "3507", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3507" } ], "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:4154", "name": "dentinogenesis imperfecta", "description": "A tooth disease characterized by discolored, opalescent teeth that has_material_basis_in mutation in the DSPP gene on chromosome 4q22.", "url": "https://disease-ontology.org/term/DOID:4154", "evidence": [ { "id": "4154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4154" } ], "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:4257", "name": "Caffey disease", "description": "A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has symptom soft-tissue swelling, has symptom bone lesions, and has symptom irritability.", "url": "https://disease-ontology.org/term/DOID:4257", "evidence": [ { "id": "114000", "database": "MIM", "url": "https://www.omim.org/entry/114000" }, { "id": "4257", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4257" } ], "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: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: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: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:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "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:90", "name": "degenerative disc disease", "description": "A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc.", "url": "https://disease-ontology.org/term/DOID:90", "evidence": [ { "id": "90", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:90" } ], "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:916", "name": "liver benign neoplasm", "description": "", "url": "https://disease-ontology.org/term/DOID:916", "evidence": [ { "id": "916", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:916" } ], "weight": 0.0 }, { "disease_id": "DOID:9269", "name": "maple syrup urine disease", "description": "An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures.", "url": "https://disease-ontology.org/term/DOID:9269", "evidence": [ { "id": "9269", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9269" }, { "id": "9269", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9269" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 }, { "disease_id": "MONDO:0030854", "name": "combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1", "description": "", "url": "https://monarchinitiative.org/disease/MONDO:0030854", "evidence": [ { "id": "619115", "database": "MIM", "url": "https://www.omim.org/entry/619115" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "pmid": "" }, { "name": "extracellular matrix structural constituent conferring tensile strength", "id": "GO:0030020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030020", "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "pmid": "" }, { "name": "platelet-derived growth factor binding", "id": "GO:0048407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048407", "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], 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"https://disease-ontology.org/term/DOID:0080199", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ], "weight": 0.0 }, { "disease_id": "DOID:0080202", "name": "adenoid cystic carcinoma", "description": "An adenocarcinoma that is characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells.", "url": "https://disease-ontology.org/term/DOID:0080202", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ], "weight": 0.0 }, { "disease_id": "DOID:0080630", "name": "B-lymphoblastic leukemia/lymphoma", "description": "A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow.", "url": "https://disease-ontology.org/term/DOID:0080630", "evidence": [ { "id": "0080630", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080630" } ], "weight": 0.0 }, { "disease_id": "DOID:0081267", "name": "graft-versus-host disease", "description": "An immune system disease that is characterized by recognition by mature donor T cells, that contaminate the allogeneic bone marrow, of the recipient's tissue as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease, and that has_material_basis_in an associated with variation in the interleukin-10 gene (IL10) on chromosome 1q32.", "url": "https://disease-ontology.org/term/DOID:0081267", "evidence": [ { "id": "0081267", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081267" } ], "weight": 0.0 }, { "disease_id": "DOID:0081292", "name": "traumatic brain injury", "description": "A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head.", "url": "https://disease-ontology.org/term/DOID:0081292", "evidence": [ { "id": "0081292", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081292" } ], "weight": 0.0 }, { "disease_id": "DOID:0081312", "name": "T-cell non-Hodgkin lymphoma", "description": "A non-Hodgkin lymphoma of T-cell lineage.", "url": "https://disease-ontology.org/term/DOID:0081312", "evidence": [ { "id": "0081312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081312" } ], "weight": 0.0 }, { "disease_id": "DOID:0111503", "name": "Li-Fraumeni syndrome 1", "description": "A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the TP53 gene on chromosome 17p13.1.", "url": "https://disease-ontology.org/term/DOID:0111503", "evidence": [ { "id": "151623", "database": "MIM", "url": "https://www.omim.org/entry/151623" }, { "id": "0111503", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111503" } ], "weight": 0.0 }, { "disease_id": "DOID:0112182", "name": "mismatch repair cancer syndrome", "description": "A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 on chromosomes 3p22.2, 2p21-p16, 2p16.3, and 7p22.1, respectively.", "url": "https://disease-ontology.org/term/DOID:0112182", "evidence": [ { "id": "0112182", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112182" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:1035", "name": "aggressive NK-cell leukemia", "description": "A leukemia that is characterized by the systemic proliferation of NK cells closely associated with Epstein-Barr virus and that is located_in the peripheral blood, bone marrow, liver, and spleen.", "url": "https://disease-ontology.org/term/DOID:1035", "evidence": [ { "id": "1035", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1035" } ], "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": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "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:10811", "name": "nasal cavity cancer", "description": "A respiratory system cancer that is located_in the nasal cavity.", "url": "https://disease-ontology.org/term/DOID:10811", "evidence": [ { "id": "10811", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10811" } ], "weight": 0.0 }, { "disease_id": "DOID:10964", "name": "cholesteatoma of middle ear", "description": "", "url": "https://disease-ontology.org/term/DOID:10964", "evidence": [ { "id": "10964", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10964" } ], "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:1115", "name": "sarcoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm.", "url": "https://disease-ontology.org/term/DOID:1115", "evidence": [ { "id": "1115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1115" } ], "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: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:1240", "name": "leukemia", "description": "A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.", "url": "https://disease-ontology.org/term/DOID:1240", "evidence": [ { "id": "1240", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1240" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "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:1350", "name": "paranasal sinus benign neoplasm", "description": "", "url": "https://disease-ontology.org/term/DOID:1350", "evidence": [ { "id": "1350", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1350" } ], "weight": 0.0 }, { "disease_id": "DOID:13544", "name": "low tension glaucoma", "description": "An open-angle glaucoma characterized by increased intrinsic resistance to aqueous outflow without known secondary causes, an anatomically narrow anterior chamber angle, or elevated intraocular pressure compared to the average population. Normal tension glaucoma has_symptom progressive decreased vision and progressive loss of peripheral vision.", "url": "https://disease-ontology.org/term/DOID:13544", "evidence": [ { "id": "13544", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13544" } ], "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:14566", "name": "disease of cellular proliferation", "description": "A disease that is characterized by abnormally rapid cell division.", "url": "https://disease-ontology.org/term/DOID:14566", "evidence": [ { "id": "14566", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14566" } ], "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:1749", "name": "squamous cell carcinoma", "description": "A carcinoma that derives_from squamous epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1749", "evidence": [ { "id": "1749", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1749" } ], "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:2513", "name": "basal cell carcinoma", "description": "A skin carcinoma affecting basal cells.", "url": "https://disease-ontology.org/term/DOID:2513", "evidence": [ { "id": "2513", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2513" } ], "weight": 0.0 }, { "disease_id": "DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes.", "url": "https://disease-ontology.org/term/DOID:2531", "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ], "weight": 0.0 }, { "disease_id": "DOID:2626", "name": "choroid plexus papilloma", "description": "", "url": "https://disease-ontology.org/term/DOID:2626", "evidence": [ { "id": "260500", "database": "MIM", "url": "https://www.omim.org/entry/260500" }, { "id": "2626", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2626" } ], "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:2729", "name": "dyskeratosis congenita", "description": "A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer.", "url": "https://disease-ontology.org/term/DOID:2729", "evidence": [ { "id": "2729", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2729" } ], "weight": 0.0 }, { "disease_id": "DOID:2870", "name": "endometrial adenocarcinoma", "description": "An endometrial carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:2870", "evidence": [ { "id": "2870", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2870" } ], "weight": 0.0 }, { "disease_id": "DOID:2871", "name": "endometrial carcinoma", "description": "A endometrial cancer that is located_in the tissue lining the uterus.", "url": "https://disease-ontology.org/term/DOID:2871", "evidence": [ { "id": "2871", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2871" } ], "weight": 0.0 }, { "disease_id": "DOID:2998", "name": "testicular cancer", "description": "A male reproductive system cancer that is located_in the testicles.", "url": "https://disease-ontology.org/term/DOID:2998", "evidence": [ { "id": "2998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2998" } ], "weight": 0.0 }, { "disease_id": "DOID:3012", "name": "Li-Fraumeni syndrome", "description": "A syndrome characterized by autosomal dominant inheritance of increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata.", "url": "https://disease-ontology.org/term/DOID:3012", "evidence": [ { "id": "151623", "database": "MIM", "url": "https://www.omim.org/entry/151623" }, { "id": "3012", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3012" } ], "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:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:3114", "name": "serous cystadenocarcinoma", "description": "A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions.", "url": "https://disease-ontology.org/term/DOID:3114", "evidence": [ { "id": "3114", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3114" } ], "weight": 0.0 }, { "disease_id": "DOID:326", "name": "ischemia", "description": "A vascular disease that is characterized by a restriction in blood supply to tissues.", "url": "https://disease-ontology.org/term/DOID:326", "evidence": [ { "id": "326", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:326" } ], "weight": 0.0 }, { "disease_id": "DOID:3347", "name": "osteosarcoma", "description": "A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus).", "url": "https://disease-ontology.org/term/DOID:3347", "evidence": [ { "id": "3347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3347" } ], "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:3702", "name": "cervical adenocarcinoma", "description": "A cervix carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3702", "evidence": [ { "id": "3702", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3702" } ], "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:3744", "name": "cervical squamous cell carcinoma", "description": "A cervix carcinoma that has_material_basis_in squamous cells of the cervix.", "url": "https://disease-ontology.org/term/DOID:3744", "evidence": [ { "id": "3744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3744" } ], "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: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:3948", "name": "adrenocortical carcinoma", "description": "An adrenal cortex cancer that forms in the outer layer of tissue of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3948", "evidence": [ { "id": "202300", "database": "MIM", "url": "https://www.omim.org/entry/202300" } ], "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:4247", "name": "coronary restenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:4247", "evidence": [ { "id": "4247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4247" } ], "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:4467", "name": "clear cell renal cell carcinoma", "description": "A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope.", "url": "https://disease-ontology.org/term/DOID:4467", "evidence": [ { "id": "4467", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4467" } ], "weight": 0.0 }, { "disease_id": "DOID:4926", "name": "bronchiolo-alveolar adenocarcinoma", "description": "A lung adenocarcinoma characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension.", "url": "https://disease-ontology.org/term/DOID:4926", "evidence": [ { "id": "4926", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4926" } ], "weight": 0.0 }, { "disease_id": "DOID:4971", "name": "myelofibrosis", "description": "A myeloid neoplasm that is located in the bone marrow which results in bone marrow being replaced by fibrous (scar) tissue.", "url": "https://disease-ontology.org/term/DOID:4971", "evidence": [ { "id": "4971", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4971" } ], "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:5520", "name": "head and neck squamous cell carcinoma", "description": "A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck.", "url": "https://disease-ontology.org/term/DOID:5520", "evidence": [ { "id": "5520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5520" }, { "id": "5520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5520" }, { "id": "5520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5520" } ], "weight": 0.0 }, { "disease_id": "DOID:5744", "name": "ovary serous adenocarcinoma", "description": "An ovary adenocarcinoma that derives_from the lining of a cavity that produces a serum-like fluid (a serous cavity).", "url": "https://disease-ontology.org/term/DOID:5744", "evidence": [ { "id": "5744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5744" } ], "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:5940", "name": "malignant peripheral nerve sheath tumor", "description": "", "url": "https://disease-ontology.org/term/DOID:5940", "evidence": [ { "id": "5940", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5940" } ], "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:705", "name": "Leber hereditary optic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:705", "evidence": [ { "id": "705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:705" }, { "id": "705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:705" }, { "id": "705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:705" }, { "id": "705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:705" } ], "weight": 0.0 }, { "disease_id": "DOID:7575", "name": "pancreatic intraductal papillary-mucinous neoplasm", "description": "A pancreatic cancer that is characterized as a slow-growing epithelial neoplasm with ductal differentiation that arises from the exocrine pancreas and grows mostly within the pancreatic ducts.", "url": "https://disease-ontology.org/term/DOID:7575", "evidence": [ { "id": "7575", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7575" } ], "weight": 0.0 }, { "disease_id": "DOID:7614", "name": "meninges sarcoma", "description": "", "url": "https://disease-ontology.org/term/DOID:7614", "evidence": [ { "id": "7614", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7614" } ], "weight": 0.0 }, { "disease_id": "DOID:8725", "name": "vascular dementia", "description": "A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain.", "url": "https://disease-ontology.org/term/DOID:8725", "evidence": [ { "id": "8725", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8725" } ], "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: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:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "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:9655", "name": "oral mucosa leukoplakia", "description": "A mouth disease that is 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"https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "protein tetramerization", "id": "GO:0051262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051262", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "negative regulation of DNA-templated transcription", "id": "GO:0045892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "hematopoietic stem cell differentiation", "id": "GO:0060218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060218", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "cellular response to xenobiotic stimulus", "id": "GO:0071466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071466", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "type II interferon-mediated signaling pathway", "id": "GO:0060333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060333", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "positive regulation of thymocyte apoptotic process", "id": "GO:0070245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070245", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "Ras protein signal transduction", "id": "GO:0007265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007265", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "negative regulation of telomere maintenance via telomerase", "id": "GO:0032211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032211", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator", "id": "GO:0042771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042771", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "negative regulation of fibroblast proliferation", "id": "GO:0048147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048147", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "positive regulation of reactive oxygen species metabolic process", "id": "GO:2000379", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000379", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "cellular response to glucose starvation", "id": "GO:0042149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042149", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "response to antibiotic", "id": "GO:0046677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046677", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "transcription initiation-coupled chromatin remodeling", "id": "GO:0045815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045815", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway by p53 class mediator", "id": "GO:0072332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072332", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "positive regulation of release of cytochrome c from mitochondria", "id": "GO:0090200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090200", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway", "id": "GO:0097193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097193", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "positive regulation of intrinsic apoptotic signaling pathway", "id": "GO:2001244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001244", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "hematopoietic progenitor cell differentiation", "id": "GO:0002244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002244", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "tumor necrosis factor-mediated signaling pathway", "id": "GO:0033209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033209", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress", "id": "GO:0070059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070059", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "cellular senescence", "id": "GO:0090398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090398", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "cellular response to UV", "id": "GO:0034644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034644", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "cellular response to ionizing radiation", "id": "GO:0071479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071479", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "positive regulation of cellular senescence", "id": "GO:2000774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000774", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "ER overload response", "id": "GO:0006983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006983", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "DNA damage response, signal transduction by p53 class mediator", "id": "GO:0030330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030330", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "positive regulation of execution phase of apoptosis", "id": "GO:1900119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900119", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": 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