{ "uniprot_canonical_ac": "Q00898-1", "uniprot_ac": "Q00898", "uniprot_id": "A1AT5_MOUSE", "mass": { "chemical_mass": 45891.0, "monoisotopic_mass": 45891.0 }, "refseq": { "ac": "NP_033273", "name": "alpha-1-antitrypsin 1-5 precursor", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_033273" }, "gene_names": [ { "name": "Serpina1e", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q00898", "id": "Q00898" }, { "name": "Dom5; PI5; Spi1-5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_033273", "id": "NP_033273" }, { "name": "Dom5", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q00898", "id": "Q00898" }, { "name": "Serpina1e", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_033273", "id": "NP_033273" }, { "name": "Spi1-5", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q00898", "id": "Q00898" } ], "protein_names": [ { "name": "Alpha-1-antitrypsin 1-5", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q00898" }, { "name": "Alpha-1 protease inhibitor 5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q00898" }, { "name": "Serine protease inhibitor 1-5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q00898" }, { "name": "Serine protease inhibitor A1e", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q00898" }, { "name": "Serpin A1e", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q00898" }, { "name": "alpha-1-antitrypsin 1-5 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_033273", "id": "NP_033273" }, { "name": "serine (or cysteine) proteinase inhibitor, clade A, member 1e; alpha-1 protease inhibitor 5; alpha-1-antitrypsin 1-5; serine protease inhibitor A1e; serpin A1e; serine protease inhibitor 1-5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_033273", "id": "NP_033273" } ], "function": [ { "annotation": "Clathrin-mediated endocytosis regulates A1AT intracellular function in the lung endothelium and may be an important determinant of the serpin's protection against developing cigarette smoke-induced emphysema", "evidence": [ { "database": "RefSeq", "id": "NP_033273", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_033273" }, { "database": "PubMed", "id": "19423638", "url": "https://glygen.org/publication/PubMed/19423638" } ] }, { "annotation": "Does not inhibit elastase or chymotrypsin. No target protease has been identified to date.", "evidence": [ { "database": "UniProtKB", "id": "Q00898", "url": "https://www.uniprot.org/uniprot/Q00898#function" } ] } ], "disease": [ { "disease_id": "DOID:0060186", "recommended_name": { "id": "DOID:0060186", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060186", "name": "chemical colitis", "description": "A colitis caused_by introduction of various chemicals." }, "synonyms": [], "evidence": [ { "id": "0060186", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060186" } ] }, { "disease_id": "DOID:0060189", "recommended_name": { "id": "DOID:0060189", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060189", "name": "ileitis", "description": "An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss." }, "synonyms": [ { "id": "DOID:0060189", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060189", "name": "Crohn's ileitis", "description": "" } ], "evidence": [ { "id": "0060189", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060189" } ] }, { "disease_id": "DOID:10591", "recommended_name": { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/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." }, "synonyms": [ { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "gestational hypertension", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "hypertension induced by pregnancy", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "pre-eclamptic toxaemia", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "preeclampsia", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "preeclampsia/eclampsia", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "pregnancy associated hypertension", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "pregnancy toxemia", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "proteinuric hypertension of pregnancy", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "toxaemia of pregnancy", "description": "" }, { "id": "MONDO:0012266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012266", "name": "preeclampsia/eclampsia 4", "description": "Any preeclampsia in which the cause of the disease is a mutation in the STOX1 gene." }, { "id": "MONDO:0012266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012266", "name": "Preeclampsia/eclampsia type 4", "description": "" }, { "id": "MONDO:0012266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012266", "name": "STOX1 preeclampsia", "description": "" }, { "id": "MONDO:0012266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012266", "name": "preeclampsia caused by mutation in STOX1", "description": "" }, { "id": "MONDO:0012266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012266", "name": "preeclampsia/eclampsia 4", "description": "" }, { "id": "MONDO:0012266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012266", "name": "PEE4", "description": "" }, { "id": "MONDO:0012266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012266", "name": "PREECLAMPSIA/eclampsia 4", "description": "" }, { "id": "MONDO:0012265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012265", "name": "preeclampsia/eclampsia 3", "description": "" }, { "id": "MONDO:0012265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012265", "name": "PEE3", "description": "" }, { "id": "MONDO:0012265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012265", "name": "PREECLAMPSIA/eclampsia 3", "description": "" }, { "id": "MONDO:0012264", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012264", "name": "preeclampsia/eclampsia 2", "description": "" }, { "id": "MONDO:0012264", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012264", "name": "PEE2", "description": "" }, { "id": "MONDO:0012264", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012264", "name": "PREECLAMPSIA/eclampsia 2", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "preeclampsia/eclampsia 1", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "toxaemia of pregnancy", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "toxemia of pregnancy", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "PEE1", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "PREECLAMPSIA/eclampsia 1", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "PREG1", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "hemolysis, elevated liver enzymes, and low platelet count", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "hypertension, pregnancy-induced", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome 1", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "FGFR2-related bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "perinatal lethal bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "BBDS", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia (BBD)-FGFR2 type", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome", "description": "" }, { "id": "MIM:609404", "resource": "MIM", "url": "https://www.omim.org/entry/609404", "name": "Pre-eclampsia/eclampsia 4", "description": "Pre-eclampsia/eclampsia 4" }, { "id": "MIM:614592", "resource": "MIM", "url": "https://www.omim.org/entry/614592", "name": "Bent bone dysplasia syndrome 1", "description": "Bent bone dysplasia syndrome 1" } ], "evidence": [ { "id": "10591", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ] }, { "disease_id": "DOID:10763", "recommended_name": { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries." }, "synonyms": [ { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "HTN", "description": "" }, { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "hyperpiesia", "description": "" }, { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "vascular hypertensive disorder", "description": "" } ], "evidence": [ { "id": "10763", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ] }, { "disease_id": "DOID:13372", "recommended_name": { "id": "DOID:13372", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13372", "name": "alpha 1-antitrypsin deficiency", "description": "A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells." }, "synonyms": [ { "id": "DOID:13372", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13372", "name": "AAT deficiency", "description": "" }, { "id": "MONDO:0013282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013282", "name": "alpha 1-antitrypsin deficiency", "description": "Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis." }, { "id": "MONDO:0013282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013282", "name": "A-1ATD", "description": "" }, { "id": "MONDO:0013282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013282", "name": "A1AD", "description": "" }, { "id": "MONDO:0013282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013282", "name": "AAT deficiency", "description": "" }, { "id": "MONDO:0013282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013282", "name": "alpha 1-antitrypsin deficiency", "description": "" }, { "id": "MONDO:0013282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013282", "name": "deficiency in Alpa-1-proteinase inhibitor", "description": "" }, { "id": "MONDO:0013282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013282", "name": "emphysema due to AAT deficiency", "description": "" }, { "id": "MONDO:0013282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013282", "name": "emphysema-cirrhosis, due to AAT deficiency", "description": "" }, { "id": "MONDO:0013282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013282", "name": "hemorrhagic diathesis due to antithrombin pittsburgh", "description": "" }, { "id": "MONDO:0013282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013282", "name": "A1AT deficiency", "description": "" }, { "id": "MONDO:0013282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013282", "name": "A1ATD", "description": "" }, { "id": "MONDO:0013282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013282", "name": "AATD", "description": "" }, { "id": "MONDO:0013282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013282", "name": "ALPHA-1-antitrypsin deficiency", "description": "" }, { "id": "MONDO:0013282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013282", "name": "Alpha 1 antitrypsin deficiency", "description": "" }, { "id": "MONDO:0013282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013282", "name": "Alpha-1 antitrypsin deficiency", "description": "" }, { "id": "MONDO:0013282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013282", "name": "alpha-1-antitrypsin deficiency", "description": "" }, { "id": "MIM:613490", "resource": "MIM", "url": "https://www.omim.org/entry/613490", "name": "Alpha-1-antitrypsin deficiency", "description": "Alpha-1-antitrypsin deficiency" } ], "evidence": [ { "id": "13372", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13372" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "evidence": [ { "id": "1793", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:2349", "recommended_name": { "id": "DOID:2349", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries." }, "synonyms": [ { "id": "DOID:2349", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2349", "name": "Arteriosclerotic vascular disease", "description": "" } ], "evidence": [ { "id": "2349", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ] }, { "disease_id": "DOID:2841", "recommended_name": { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing." }, "synonyms": [ { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "Exercise induced asthma", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "bronchial hyperreactivity", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "chronic obstructive asthma", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "chronic obstructive asthma with acute exacerbation", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "chronic obstructive asthma with status asthmaticus", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "exercise-induced asthma", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "inherited susceptibility to asthma", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, nocturnal, susceptibility to", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, bronchial", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, diminished response to Antileukotriene treatment 1N", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, protection against", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, susceptibility to", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma-related traits, susceptibility to", "description": "" }, { "id": "MIM:600807", "resource": "MIM", "url": "https://www.omim.org/entry/600807", "name": "Asthma", "description": "Asthma" } ], "evidence": [ { "id": "2841", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ] }, { "disease_id": "DOID:2913", "recommended_name": { "id": "DOID:2913", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2913", "name": "acute pancreatitis", "description": "A pancreatitis that is characterized by inflammation of the pancreas over a short period of time and has symptoms of severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock." }, "synonyms": [], "evidence": [ { "id": "2913", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2913" } ] }, { "disease_id": "DOID:3083", "recommended_name": { "id": "DOID:3083", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/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." }, "synonyms": [ { "id": "DOID:3083", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3083", "name": "COLD", "description": "" }, { "id": "DOID:3083", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3083", "name": "COPD", "description": "" }, { "id": "DOID:3083", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3083", "name": "chronic obstructive airway disease", "description": "" }, { "id": "DOID:3083", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3083", "name": "chronic obstructive lung disease", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "chronic obstructive pulmonary disease", "description": "A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of chronic obstructive pulmonary disease are chronic obstructive bronchitis and emphysema." }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "COPD", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "COPD, chronic obstructive pulmonary disease", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "chronic obstructive airway disease", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "chronic obstructive airways disease", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "chronic obstructive lung disease", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "chronic obstructive pulmonary disease (COPD)", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "chronic obstructive pulmonary disease, (COPD)", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "cold", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "cold (chronic obstructive lung disease)", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "disease (COPD), chronic obstructive", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "obstructive lung disease, chronic", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "obstructive pulmonary disease (COPD), chronic", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "pulmonary disease (COPD), chronic obstructive", "description": "" } ], "evidence": [ { "id": "3083", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ] }, { "disease_id": "DOID:3393", "recommended_name": { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/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." }, "synonyms": [ { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "CHD", "description": "" }, { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "Coronary disease", "description": "" }, { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "coronary arteriosclerosis", "description": "" }, { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "coronary heart disease", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "coronary heart disease, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "coronary heart disease, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "coronary heart disease, susceptibility to, type 4", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "Chds4", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "coronary heart disease, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "coronary heart disease, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "coronary heart disease, susceptibility to, type 2", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "Chds2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform mole, recurrent, 2", "description": "Any complete hydatidiform mole in which the cause of the disease is a mutation in the KHDC3L gene." }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "KHDC3L complete hydatidiform mole", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "complete hydatidiform mole caused by mutation in KHDC3L", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform Mole, recurrent, type 2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform mole, recurrent, 2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "HYDM2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform MOLE, recurrent, 2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform Mole, complete", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to, 1", "description": "Any coronary artery disease in which the cause of the disease is a mutation in the CX3CR1 gene." }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "CX3CR1 coronary artery disease", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary artery disease caused by mutation in CX3CR1", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary artery disease, resistance to", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to, type 1", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "Chds1", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease, autosomal dominant, 1", "description": "Any coronary artery disease in which the cause of the disease is a mutation in the MEF2A gene." }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "MEF2A coronary artery disease", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease caused by mutation in MEF2A", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease, autosomal dominant, 1", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease, autosomal dominant, type 1", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "ADCAD1", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease with myocardial infarction", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant 2", "description": "Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene." }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "LRP6 coronary artery disease", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease caused by mutation in LRP6", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant 2", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant type 2", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant, 2", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "ADCAD2", "description": "" }, { "id": "MONDO:0012788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012788", "name": "coronary heart disease, susceptibility to, 9", "description": "" }, { "id": "MONDO:0012788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012788", "name": "CHDS9", "description": "" }, { "id": "MONDO:0012788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012788", "name": "coronary heart disease, susceptibility to, 9", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "coronary heart disease, susceptibility to, 3", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "coronary heart disease, susceptibility to, 3", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "coronary heart disease, susceptibility to, type 3", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "Chds3", "description": "" }, { "id": "MONDO:0012628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012628", "name": "coronary heart disease, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012628", "name": "CHDS8", "description": "" }, { "id": "MONDO:0012628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012628", "name": "coronary heart disease, susceptibility to, 8", "description": "" }, { "id": "MIM:614293", "resource": "MIM", "url": "https://www.omim.org/entry/614293", "name": "Hydatidiform mole, recurrent, 2", "description": "Hydatidiform mole, recurrent, 2" }, { "id": "MIM:608320", "resource": "MIM", "url": "https://www.omim.org/entry/608320", "name": "Coronary artery disease, autosomal dominant, 1", "description": "Coronary artery disease, autosomal dominant, 1" }, { "id": "MIM:610947", "resource": "MIM", "url": "https://www.omim.org/entry/610947", "name": "Coronary artery disease, autosomal dominant, 2", "description": "Coronary artery disease, autosomal dominant, 2" } ], "evidence": [ { "id": "3393", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ] }, { "disease_id": "DOID:3587", "recommended_name": { "id": "DOID:3587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct." }, "synonyms": [ { "id": "DOID:3587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3587", "name": "malignant neoplasm of duct of Wirsung", "description": "" }, { "id": "DOID:3587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3587", "name": "pancreatic duct cancer", "description": "" } ], "evidence": [ { "id": "3587", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ] }, { "disease_id": "DOID:409", "recommended_name": { "id": "DOID:409", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:409", "name": "liver disease", "description": "" }, "synonyms": [ { "id": "DOID:409", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:409", "name": "disorder of liver", "description": "" }, { "id": "DOID:409", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:409", "name": "hepatic disorder", "description": "" } ], "evidence": [ { "id": "409", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:409" } ] }, { "disease_id": "DOID:446", "recommended_name": { "id": "DOID:446", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:446", "name": "primary hyperaldosteronism", "description": "An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands." }, "synonyms": [ { "id": "DOID:446", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:446", "name": "Cushing syndrome", "description": "" }, { "id": "DOID:446", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:446", "name": "Cushing's syndrome", "description": "" }, { "id": "DOID:446", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:446", "name": "hyperaldosteronism", "description": "" }, { "id": "MONDO:0013359", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013359", "name": "familial hyperaldosteronism type III", "description": "Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia." }, { "id": "MONDO:0013359", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013359", "name": "FH-III", "description": "" }, { "id": "MONDO:0013359", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013359", "name": "FH3", "description": "" }, { "id": "MONDO:0013359", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013359", "name": "familial hyperaldosteronism type 3", "description": "" }, { "id": "MONDO:0013359", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013359", "name": "FH 3", "description": "" }, { "id": "MONDO:0013359", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013359", "name": "FH III", "description": "" }, { "id": "MONDO:0013359", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013359", "name": "HALD3", "description": "" }, { "id": "MONDO:0013359", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013359", "name": "hyperaldosteronism, familial, type 3", "description": "" }, { "id": "MONDO:0013359", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013359", "name": "hyperaldosteronism, familial, type III", "description": "" }, { "id": "MONDO:0011576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011576", "name": "familial hyperaldosteronism type II", "description": "Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism." }, { "id": "MONDO:0011576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011576", "name": "FH-II", "description": "" }, { "id": "MONDO:0011576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011576", "name": "FH2", "description": "" }, { "id": "MONDO:0011576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011576", "name": "familial adrenal adenoma", "description": "" }, { "id": "MONDO:0011576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011576", "name": "familial hyperaldosteronism type 2", "description": "" }, { "id": "MONDO:0011576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011576", "name": "FH 2", "description": "" }, { "id": "MONDO:0011576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011576", "name": "FHII", "description": "" }, { "id": "MONDO:0011576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011576", "name": "HALD2", "description": "" }, { "id": "MONDO:0011576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011576", "name": "hyperaldosteronism, familial, type II", "description": "" }, { "id": "MIM:613677", "resource": "MIM", "url": "https://www.omim.org/entry/613677", "name": "Hyperaldosteronism, familial, 3", "description": "Hyperaldosteronism, familial, 3" }, { "id": "MIM:605635", "resource": "MIM", "url": "https://www.omim.org/entry/605635", "name": "Hyperaldosteronism, familial, 2", "description": "Hyperaldosteronism, familial, 2" } ], "evidence": [ { "id": "446", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:446" } ] }, { "disease_id": "DOID:4989", "recommended_name": { "id": "DOID:4989", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas." }, "synonyms": [ { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "hereditary chronic pancreatitis", "description": "Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas." }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "hereditary chronic pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "hereditary pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "HPC", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "Hp", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "PCTT", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "autosomal dominant hereditary pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "familial pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, calcific", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, calcific, included", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic pancreatitis, chronic, susceptibility to, included", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic, protection against", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic, protection against, included", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic, susceptibility to", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, hereditary", "description": "" }, { "id": "MIM:167800", "resource": "MIM", "url": "https://www.omim.org/entry/167800", "name": "Pancreatitis, hereditary", "description": "Pancreatitis, hereditary" } ], "evidence": [ { "id": "4989", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4989" } ] }, { "disease_id": "DOID:5082", "recommended_name": { "id": "DOID:5082", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5082", "name": "liver cirrhosis", "description": "" }, "synonyms": [ { "id": "DOID:5082", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5082", "name": "Cirrhosis", "description": "" }, { "id": "DOID:5082", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5082", "name": "cirrhosis of liver", "description": "" }, { "id": "MONDO:0005155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005155", "name": "cirrhosis of liver", "description": "A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholism, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy." }, { "id": "MONDO:0005155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005155", "name": "cirrhosis", "description": "" }, { "id": "MONDO:0005155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005155", "name": "cirrhosis of liver", "description": "" }, { "id": "MONDO:0005155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005155", "name": "liver cirrhosis", "description": "" } ], "evidence": [ { "id": "5082", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ] }, { "disease_id": "DOID:526", "recommended_name": { "id": "DOID:526", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands." }, "synonyms": [ { "id": "DOID:526", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:526", "name": "HIV infection", "description": "" } ], "evidence": [ { "id": "526", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:526" } ] }, { "disease_id": "DOID:576", "recommended_name": { "id": "DOID:576", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:576", "name": "proteinuria", "description": "A kidney disease that is characterized by the presence of excess proteins in the urine." }, "synonyms": [], "evidence": [ { "id": "576", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:576" } ] }, { "disease_id": "DOID:6432", "recommended_name": { "id": "DOID:6432", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries." }, "synonyms": [], "evidence": [ { "id": "6432", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ] }, { "disease_id": "DOID:8398", "recommended_name": { "id": "DOID:8398", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint." }, "synonyms": [ { "id": "DOID:8398", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8398", "name": "Osteoarthrosis and allied disorder", "description": "" }, { "id": "DOID:8398", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8398", "name": "degenerative arthritis", "description": "" }, { "id": "DOID:8398", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8398", "name": "degenerative joint disease", "description": "" }, { "id": "DOID:8398", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8398", "name": "hypertrophic arthritis", "description": "" }, { "id": "DOID:8398", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8398", "name": "osteoarthrosis", "description": "" } ], "evidence": [ { "id": "8398", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", 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"Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9675" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q00898", "url": "https://www.uniprot.org/uniprot/Q00898" } ], "common_name": "Mouse" } ], "gene": [ { "name": "Serpina1e", "url": "https://www.uniprot.org/uniprot/Q00898", "locus": { "chromosome": "12", "start_pos": 103913190, "end_pos": 103925234, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSMUSG00000072849", "url": "https://www.ensembl.org/id/ENSMUSG00000072849" } ] } } ], "crossref": [ { "id": "ENSMUSG00000072849", "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000072849", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd02056", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd02056", "database": "CDD", "categories": [ "Protein 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Classification" ] }, { "id": "IPR042178", "url": "https://www.ebi.ac.uk/interpro/entry/IPR042178", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR042185", "url": "https://www.ebi.ac.uk/interpro/entry/IPR042185", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "mmu:20704", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:20704", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "891967", "url": "http://www.informatics.jax.org/marker/MGI:891967", "database": "MGI", "categories": [ "Organism-specific" ] }, { "id": "ARINAWG", "url": "https://omabrowser.org/oma/group/ARINAWG/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3218836at2759", "url": "http://www.orthodb.org/?query=3218836at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11461", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11461", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11461:SF165", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11461:SF165", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00079", "url": "http://pfam.xfam.org/family/PF00079", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_Q00898", "url": "http://purl.obolibrary.org/obo/PR_Q00898", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_033273", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_033273", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "Q00898", "url": "https://www.uniprot.org/uniprot/Q00898", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q00898-1", "url": "https://www.uniprot.org/uniprot/Q00898-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MTPSISWCLLLLAGLCCLVPSFLAEDVQETDTSQKDQSPASHEIATNLGDFAISLYRELVHQSNTSNIFFSPVSIATAFAMLSLGSKGDTHTQILEGLQFNLTQTSEADIHNSFQHLLQTLNRPDSELQLSTGNGLFVNNDLKLVEKFLEEAKNHYQAEVFSVNFAESEEAKKVINDFVEKGTQGKIVEAVKKLEQDTVFVLANYILFKGKWKKPFDPENTKQAEFHVDESTTVKVPMMTLSGMLDVHHCSTLSSWVLLMDYAGNATAVFLLPDDGKMQHLEQTLNKELISKFLLNRRRRLAQIHIPRLSISGNYNLETLMSPLGITRIFNSGADLSGITEENAPLKLSQAVHKAVLTIDETGTEAAAATVLQGGFLSMPPILHFNRPFLFIIFEEHSQSPLFVGKVVDPTHK", "length": 413, "header": "sp|Q00898-1|A1AT5_MOUSE Isoform 1 of Alpha-1-antitrypsin 1-5 OS=Mus musculus OX=10090 GN=Serpina1e PE=1 SV=1 CANONICAL=Q00898-1" }, "isoforms": [ { "isoform_ac": "Q00898-1", "url": "", "sequence": { "sequence": "MTPSISWCLLLLAGLCCLVPSFLAEDVQETDTSQKDQSPASHEIATNLGDFAISLYRELVHQSNTSNIFFSPVSIATAFAMLSLGSKGDTHTQILEGLQFNLTQTSEADIHNSFQHLLQTLNRPDSELQLSTGNGLFVNNDLKLVEKFLEEAKNHYQAEVFSVNFAESEEAKKVINDFVEKGTQGKIVEAVKKLEQDTVFVLANYILFKGKWKKPFDPENTKQAEFHVDESTTVKVPMMTLSGMLDVHHCSTLSSWVLLMDYAGNATAVFLLPDDGKMQHLEQTLNKELISKFLLNRRRRLAQIHIPRLSISGNYNLETLMSPLGITRIFNSGADLSGITEENAPLKLSQAVHKAVLTIDETGTEAAAATVLQGGFLSMPPILHFNRPFLFIIFEEHSQSPLFVGKVVDPTHK", "length": 413, "header": "sp|Q00898-1|A1AT5_MOUSE Isoform 1 of Alpha-1-antitrypsin 1-5 OS=Mus musculus OX=10090 GN=Serpina1e PE=1 SV=1 CANONICAL=Q00898-1" }, "locus": { "chromosome": "12", "start_pos": 103917667, "end_pos": 103913280, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000085054", "url": "https://www.ensembl.org/id/ENSMUST00000085054" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000082130", "url": "https://www.ensembl.org/id/ENSMUSP00000082130" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 101, "start_aa": "Asn", "end_pos": 101, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn101", "evidence": [ { "id": "Q00898", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q00898#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 265, "start_aa": "Asn", "end_pos": 265, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn265", "evidence": [ { "id": "Q00898", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q00898#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 64, "start_aa": "Asn", "end_pos": 64, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn64", "evidence": [ { "id": "Q00898", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q00898#ptm_processing" }, { "id": "16944957", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16944957" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted", "glycoprotein_reported" ], "publication": [ { "title": "A review and comparison of the murine alpha1-antitrypsin and alpha1-antichymotrypsin multigene clusters with the human clade A serpins.", "journal": "Genomics", "date": "2003", "authors": "Forsyth S, Horvath A, Coughlin P", "evidence": [ { "database": "UniProtKB", "id": "Q00898", "url": "https://www.uniprot.org/uniprot/Q00898" } ], "reference": [ { "type": "PubMed", "id": "12659817", "url": "https://glygen.org/publication/PubMed/12659817" } ] }, { "title": "Proteome-wide characterization of N-glycosylation events by diagonal chromatography.", "journal": "Journal of proteome research", "date": "2006", "authors": "Ghesquiere B, Van Damme J, Martens L, Vandekerckhove J, Gevaert K", "evidence": [ { "database": "UniProtKB", "id": "Q00898", "url": "https://www.uniprot.org/uniprot/Q00898#ptm_processing" }, { "database": "UniProtKB", "id": "Q00898", "url": "https://www.uniprot.org/uniprot/Q00898" } ], "reference": [ { "type": "PubMed", "id": "16944957", "url": "https://glygen.org/publication/PubMed/16944957" } ] }, { "title": "Mechanism of alpha-1 antitrypsin endocytosis by lung endothelium.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2009", "authors": "Sohrab S, Petrusca DN, Lockett AD, Schweitzer KS, Rush NI, Gu Y, Kamocki K, Garrison J, Petrache I", "evidence": [ { "database": "RefSeq", "id": "NP_033273", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_033273" } ], "reference": [ { "type": "PubMed", "id": "19423638", "url": "https://glygen.org/publication/PubMed/19423638" } ] }, { "title": "Multiple murine alpha 1-protease inhibitor genes show unusual evolutionary divergence.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1991", "authors": "Borriello F, Krauter KS", "evidence": [ { "database": "UniProtKB", "id": "Q00898", "url": "https://www.uniprot.org/uniprot/Q00898" } ], "reference": [ { "type": "PubMed", "id": "1946354", "url": "https://glygen.org/publication/PubMed/1946354" } ] }, { "title": "The expression and characterization of five recombinant murine alpha 1-protease inhibitor proteins.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1996", "authors": "Moore S., Paterson T.", "evidence": [ { "database": "UniProtKB", "id": "Q00898", "url": "https://www.uniprot.org/uniprot/Q00898" } ], "reference": [ { "type": "PubMed", "id": "8619829", "url": "https://glygen.org/publication/PubMed/8619829" } ] } ], "pathway": [ { "id": "mmu:20704", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:20704", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "P01009-1", "protein_name": "Alpha-1-antitrypsin", "gene_name": "SERPINA1", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MPSSVSWGILLLAGLCCLVPVSLAEDPQGDAAQKTDTSHHDQDHPTFNKITPNLAEFAFSLYRQLAHQSNSTNIFFSPVSIATAFAMLSLGTKADTHDEILEGLNFNLTEIPEAQIHEGFQELLRTLNQPDSQLQLTTGNGLFLSEGLKLVDKFLEDVKKLYHSEAFTVNFGDTEEAKKQINDYVEKGTQGKIVDLVKELDRDTVFALVNYIFFKGKWERPFEVKDTEEEDFHVDQVTTVKVPMMKRLGMFNIQHCKKLSSWVLLMKYLGNATAIFFLPDEGKLQHLENELTHDIITKFLENEDRRSASLHLPKLSITGTYDLKSVLGQLGITKVFSNGADLSGVTEEAPLKLSKAVHKAVLTIDEKGTEAAGAMFLEAIPMSIPPEVKFNKPFVFLMIEQNTKSPLFMGKVVNPTQK", "length": 418 }, "evidence": [ { "id": "45228161", "url": "http://www.informatics.jax.org/homology/45228161", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "P17475-1", "protein_name": "Alpha-1-antiproteinase", "gene_name": "Serpina1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAPSISRGLLLLAALCCLAPSFLAEDAQETDTSQQDQSPTYRKISSNLADFAFSLYRELVHQSNTSNIFFSPMSITTAFAMLSLGSKGDTRKQILEGLEFNLTQIPEADIHKAFHHLLQTLNRPDSELQLNTGNGLFVNKNLKLVEKFLEEVKNNYHSEAFSVNFADSEEAKKVINDYVEKGTQGKIVDLMKQLDEDTVFALVNYIFFKGKWKRPFNPEHTRDADFHVDKSTTVKVPMMNRLGMFDMHYCSTLSSWVLMMDYLGNATAIFLLPDDGKMQHLEQTLTKDLISRFLLNRQTRSAILYFPKLSISGTYNLKTLLSSLGITRVFNNDADLSGITEDAPLKLSQAVHKAVLTLDERGTEAAGATVVEAVPMSLPPQVKFDHPFIFMIVESETQSPLFVGKVIDPTR", "length": 411 }, "evidence": [ { "id": "45228161", "url": "http://www.informatics.jax.org/homology/45228161", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "Q00898", "url": "https://www.uniprot.org/uniprot/Q00898" } ], "pmid": "" }, { "name": "serine-type endopeptidase inhibitor activity", "id": "GO:0004867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004867", "evidence": [ { "database": "UniProtKB", "id": "Q00898", "url": "https://www.uniprot.org/uniprot/Q00898" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q00898", "url": "https://www.uniprot.org/uniprot/Q00898" } ], "pmid": "" }, { "name": "endopeptidase inhibitor activity", "id": "GO:0004866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004866", "evidence": [ { "database": "UniProtKB", "id": "Q00898", "url": "https://www.uniprot.org/uniprot/Q00898" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q00898", "url": "https://www.uniprot.org/uniprot/Q00898" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q00898", "url": "https://www.uniprot.org/uniprot/Q00898" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q00898", "url": "https://www.uniprot.org/uniprot/Q00898" } ], "pmid": "" }, { "name": "intracellular membrane-bounded organelle", "id": "GO:0043231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043231", "evidence": [ { "database": "UniProtKB", "id": "Q00898", "url": "https://www.uniprot.org/uniprot/Q00898" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 7, "go_terms": [ { "name": "response to lead ion", "id": "GO:0010288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010288", "evidence": [ { "database": "UniProtKB", "id": "Q00898", "url": "https://www.uniprot.org/uniprot/Q00898" } ], "pmid": "" }, { "name": "response to cytokine", "id": "GO:0034097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034097", "evidence": [ { "database": "UniProtKB", "id": "Q00898", "url": "https://www.uniprot.org/uniprot/Q00898" } ], "pmid": "" }, { "name": "response to peptide hormone", "id": "GO:0043434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043434", "evidence": [ { "database": "UniProtKB", "id": "Q00898", "url": "https://www.uniprot.org/uniprot/Q00898" } ], "pmid": "" }, { "name": "negative regulation of endopeptidase activity", "id": "GO:0010951", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010951", "evidence": [ { "database": "UniProtKB", "id": "Q00898", "url": "https://www.uniprot.org/uniprot/Q00898" } ], "pmid": "" }, { "name": "negative regulation of serine-type endopeptidase activity", "id": "GO:1900004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900004", "evidence": [ { "database": "UniProtKB", "id": "Q00898", "url": "https://www.uniprot.org/uniprot/Q00898" } ], "pmid": "" }, { "name": "response to methanol", "id": "GO:0033986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033986", "evidence": [ { "database": "UniProtKB", "id": "Q00898", "url": "https://www.uniprot.org/uniprot/Q00898" } ], "pmid": "" }, { "name": "response to chromate", "id": "GO:0046687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046687", "evidence": [ { "database": "UniProtKB", "id": "Q00898", "url": "https://www.uniprot.org/uniprot/Q00898" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 101, "end_pos": 103, "annotation": "n_glycosylation_sequon" }, { "start_pos": 265, "end_pos": 267, "annotation": "n_glycosylation_sequon" }, { "start_pos": 64, "end_pos": 66, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" } ], "section_stats": [ { 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"table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }