[ { "uniprot_canonical_ac": "O14497-1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14497", "url": "https://www.uniprot.org/uniprotkb/O14497" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "length": 2285, "chemical_mass": 242045.0, "gene_names": "ARID1A;ARID1A;B120;BAF250A;BAF250a;BAF250;BM029;C1orf4;CSS2;ELD;MRD14;OSA1;P270;SMARCF1;hELD;hOSA1", "protein_name": "AT-rich interactive domain-containing protein 1A", "disease": [ { "disease_id": "DOID:0050934", "name": "ovarian clear cell carcinoma", "description": "An ovarian carcinoma that has_material_basis_in cells with clear cytoplasm and glycogen secreting hob nail cells.", "url": "https://disease-ontology.org/term/DOID:0050934", "evidence": [ { "id": "0050934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050934" } ], "weight": 0.0 }, { "disease_id": "DOID:0070042", "name": "Coffin-Siris syndrome 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"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:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "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:1925", "name": "Coffin-Siris syndrome", "description": "An autosomal dominant intellectual developmental disorder that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails.", "url": "https://disease-ontology.org/term/DOID:1925", "evidence": [ { "id": "1925", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1925" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "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: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: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:4914", "name": "esophagus adenocarcinoma", "description": "An esophageal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4914", "evidence": [ { "id": "4914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4914" } ], 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9606, "evidence": [ { "database": "UniProtKB", "id": "O95714", "url": "https://www.uniprot.org/uniprotkb/O95714" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "length": 4834, "chemical_mass": 527228.0, "gene_names": "HERC2;D15F37S1;HERC2;MRT38;SHEP1;jdf2;p528", "protein_name": "E3 ubiquitin-protein ligase HERC2", "disease": [ { "disease_id": "DOID:0081203", "name": "autosomal recessive intellectual developmental disorder 38", "description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the HERC2 gene on chromosome 15q13.", "url": "https://disease-ontology.org/term/DOID:0081203", "evidence": [ { "id": "615516", "database": "MIM", "url": "https://www.omim.org/entry/615516" }, { "id": "0081203", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081203" } ], "weight": 0.0 }, { "disease_id": "DOID:10123", "name": "pigmentation disease", "description": "A skin disease that is characterized by discoloration of the skin.", "url": "https://disease-ontology.org/term/DOID:10123", "evidence": [ { "id": "10123", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10123" } ], "weight": 0.0 }, { "disease_id": "MONDO:0044255", "name": "obsolete skin/hair/eye pigmentation, variation in, 1", "description": "OBSOLETE. Multiple genes influence normal human skin, hair, and/or eye pigmentation. Pigmentation phenotypes influenced by variation in the OCA2 gene are termed SHEP1. The SHEP2 association (OMIM:266300) is determined by variation at the MC1R locus (OMIM:155555) and describes a phenotype predominantly characterized by red hair and fair skin. SHEP3 (OMIM:601800) encompasses pigment variation influenced by the TYR gene (OMIM:606933); SHEP4 (OMIM:113750), that influenced by the SLC24A5 gene (OMIM:609802). Variation in the SLC45A2 (OMIM:606202) and SLC24A4 (OMIM:609840) genes result in the phenotypic associations SHEP5 (OMIM:227240) and SHEP6 (OMIM:210750), respectively. Sequence variation thought to affect expression of KITLG (OMIM:184745) results in the SHEP7 (OMIM:611664) phenotypic association. SHEP8 (OMIM:611724) is associated with variation in the IRF4 gene (OMIM:601900). Polymorphism in the 3-prime untranslated region of the ASIP gene (OMIM:600201) influences the SHEP9 association (OMIM:611742). The SHEP10 association (OMIM:612267) comprises variation in the TPCN2 gene (OMIM:612163), and SHEP11 (OMIM:612271) is associated with polymorphism near the TYRP1 gene (OMIM:115501).", "url": "https://monarchinitiative.org/disease/MONDO:0044255", "evidence": [ { "id": "227220", "database": "MIM", "url": "https://www.omim.org/entry/227220" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O95714", "url": "https://www.uniprot.org/uniprotkb/O95714" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O95714", "url": "https://www.uniprot.org/uniprotkb/O95714" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O95714", "url": "https://www.uniprot.org/uniprotkb/O95714" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O95714", "url": "https://www.uniprot.org/uniprotkb/O95714" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O95714", "url": "https://www.uniprot.org/uniprotkb/O95714" } ], "pmid": "" }, { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "O95714", "url": "https://www.uniprot.org/uniprotkb/O95714" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "O95714", "url": "https://www.uniprot.org/uniprotkb/O95714" } ], "pmid": "" }, { "name": 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They are transmitted_by sexual contact.", "url": "https://disease-ontology.org/term/DOID:11166", "evidence": [ { "id": "11166", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11166" } ], "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:1307", "name": "dementia", "description": "A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior.", "url": "https://disease-ontology.org/term/DOID:1307", "evidence": [ { "id": "1307", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1307" } ], "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: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:13976", "name": "peptic esophagitis", "description": "", "url": "https://disease-ontology.org/term/DOID:13976", "evidence": [ { "id": "13976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13976" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "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: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:2671", "name": "transitional cell carcinoma", "description": "A carcinoma that derives_from transitional epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2671", "evidence": [ { "id": "2671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2671" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2876", "name": "laryngeal squamous cell carcinoma", "description": "A laryngeal carcinoma that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:2876", "evidence": [ { "id": "2876", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2876" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:305", "name": "carcinoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:305", "evidence": [ { "id": "305", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:305" } ], "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: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:3459", "name": "breast carcinoma", "description": "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3459", "evidence": [ { "id": "3459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3459" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:571", "name": "median neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:571", "evidence": [ { "id": "571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:571" } ], "weight": 0.0 }, { "disease_id": "DOID:62", "name": "aortic valve disease", "description": "A heart valve disease that is located_in the aortic valve.", "url": "https://disease-ontology.org/term/DOID:62", "evidence": [ { "id": "62", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:62" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9271", "name": "ornithine carbamoyltransferase deficiency", "description": "An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase.", "url": "https://disease-ontology.org/term/DOID:9271", "evidence": [ { "id": "9271", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9271" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "cellular_component": [ { "name": "intracellular vesicle", "id": "GO:0097708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097708", "evidence": [ { "database": "UniProtKB", "id": "P00533", "url": "https://www.uniprot.org/uniprotkb/P00533" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "P00533", "url": "https://www.uniprot.org/uniprotkb/P00533" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P00533", "url": "https://www.uniprot.org/uniprotkb/P00533" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P00533", "url": "https://www.uniprot.org/uniprotkb/P00533" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P00533", "url": "https://www.uniprot.org/uniprotkb/P00533" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "P00533", "url": "https://www.uniprot.org/uniprotkb/P00533" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P00533", "url": "https://www.uniprot.org/uniprotkb/P00533" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P00533", "url": "https://www.uniprot.org/uniprotkb/P00533" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "P00533", "url": "https://www.uniprot.org/uniprotkb/P00533" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P00533", "url": "https://www.uniprot.org/uniprotkb/P00533" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P00533", "url": "https://www.uniprot.org/uniprotkb/P00533" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "P00533", "url": "https://www.uniprot.org/uniprotkb/P00533" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "P00533", "url": "https://www.uniprot.org/uniprotkb/P00533" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "P00533", "url": "https://www.uniprot.org/uniprotkb/P00533" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "P00533", "url": "https://www.uniprot.org/uniprotkb/P00533" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "P00533", "url": "https://www.uniprot.org/uniprotkb/P00533" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P00533", "url": "https://www.uniprot.org/uniprotkb/P00533" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "P00533", "url": "https://www.uniprot.org/uniprotkb/P00533" } ], "pmid": "" }, { "name": "clathrin-coated endocytic vesicle membrane", "id": "GO:0030669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030669", "evidence": [ { "database": "UniProtKB", "id": "P00533", "url": "https://www.uniprot.org/uniprotkb/P00533" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "P00533", "url": "https://www.uniprot.org/uniprotkb/P00533" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "P00533", "url": "https://www.uniprot.org/uniprotkb/P00533" } ], "pmid": "" }, { "name": "ruffle membrane", "id": "GO:0032587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032587", "evidence": [ { "database": "UniProtKB", "id": "P00533", "url": "https://www.uniprot.org/uniprotkb/P00533" } ], "pmid": "" }, { "name": "basal plasma membrane", "id": "GO:0009925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009925", "evidence": [ { "database": "UniProtKB", "id": "P00533", "url": "https://www.uniprot.org/uniprotkb/P00533" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P00533", "url": "https://www.uniprot.org/uniprotkb/P00533" } ], "pmid": "" }, { "name": "Shc-EGFR complex", "id": "GO:0070435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070435", "evidence": [ { "database": "UniProtKB", "id": "P00533", "url": "https://www.uniprot.org/uniprotkb/P00533" } ], "pmid": "" }, { "name": "multivesicular body, internal vesicle lumen", "id": "GO:0097489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097489", "evidence": [ { "database": "UniProtKB", "id": "P00533", "url": "https://www.uniprot.org/uniprotkb/P00533" } ], "pmid": "" }, { "name": "endocytic vesicle", "id": "GO:0030139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030139", "evidence": [ { "database": "UniProtKB", "id": "P00533", "url": "https://www.uniprot.org/uniprotkb/P00533" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": 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The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0080547", "name": "metabolic dysfunction-associated steatohepatitis", "description": "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis.", "url": "https://disease-ontology.org/term/DOID:0080547", "evidence": [ { "id": "0080547", "database": "AGR", "url": 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"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" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "pmid": "" }, { "name": "endoplasmic reticulum lumen", "id": "GO:0005788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005788", "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "pmid": "" }, { "name": "secretory granule", "id": "GO:0030141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030141", "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "pmid": "" }, { "name": "collagen type I trimer", "id": "GO:0005584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005584", "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "pmid": "" }, { "name": "collagen trimer", "id": "GO:0005581", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005581", "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "pmid": "" }, { "name": "cellular response to retinoic acid", "id": "GO:0071300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071300", "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "pmid": "" }, { "name": "cellular response to glucose stimulus", "id": "GO:0071333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071333", "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "pmid": "" }, { "name": "response to hydrogen peroxide", "id": "GO:0042542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042542", "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "pmid": "" }, { "name": "visual perception", "id": "GO:0007601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601", "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "pmid": "" }, { "name": "collagen fibril organization", "id": "GO:0030199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030199", "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "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": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "pmid": "" }, { "name": "response to steroid hormone", "id": "GO:0048545", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048545", "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "pmid": "" }, { "name": "response to insulin", "id": "GO:0032868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032868", "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "pmid": "" }, { "name": "protein localization to nucleus", "id": "GO:0034504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034504", "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "pmid": "" }, { "name": "cellular response to transforming growth factor beta stimulus", "id": "GO:0071560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071560", "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "pmid": "" }, { "name": "response to cAMP", "id": "GO:0051591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051591", "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "pmid": "" }, { "name": "positive regulation of canonical Wnt signaling pathway", "id": "GO:0090263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090263", "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "pmid": "" }, { "name": "tooth mineralization", "id": "GO:0034505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034505", "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "pmid": "" }, { "name": "positive regulation of epithelial to mesenchymal transition", "id": "GO:0010718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010718", "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "pmid": "" }, { "name": "cellular response to tumor necrosis factor", "id": "GO:0071356", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071356", "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "pmid": "" }, { "name": "cellular response to epidermal growth factor stimulus", "id": "GO:0071364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071364", "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "pmid": "" }, { "name": "response to hyperoxia", "id": "GO:0055093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055093", "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "pmid": "" }, { "name": "collagen biosynthetic process", "id": "GO:0032964", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032964", "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "pmid": "" }, { "name": "cellular response to fibroblast growth factor stimulus", "id": "GO:0044344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044344", "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "pmid": "" }, { "name": "skin morphogenesis", "id": "GO:0043589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043589", "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "pmid": "" }, { "name": "cellular response to vitamin E", "id": "GO:0071306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071306", "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "pmid": "" }, { "name": "cellular response to fluoride", "id": "GO:1902618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902618", "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "pmid": "" }, { "name": "embryonic skeletal system 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"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 characterized by a white patch or plaque that develops in the oral cavity and is strongly associated with smoking.", "url": "https://disease-ontology.org/term/DOID:9655", "evidence": [ { "id": "9655", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9655" } ], "weight": 0.0 }, { "disease_id": "MONDO:0013876", "name": "basal cell carcinoma, susceptibility to, 7", "description": "Any skin basal cell carcinoma in which the cause of the disease is a mutation in the TP53 gene.", "url": "https://monarchinitiative.org/disease/MONDO:0013876", "evidence": [ { "id": "614740", "database": "MIM", "url": "https://www.omim.org/entry/614740" } ], "weight": 0.0 }, { "disease_id": "MONDO:0032573", "name": "bone marrow failure syndrome 5", "description": "", "url": "https://monarchinitiative.org/disease/MONDO:0032573", "evidence": [ { "id": "618165", "database": "MIM", "url": "https://www.omim.org/entry/618165" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of helicase activity", "id": "GO:0051097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051097", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "response to gamma radiation", "id": "GO:0010332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010332", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "viral process", "id": "GO:0016032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016032", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "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": 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"chemical_mass": 426778.0, "gene_names": "DMD;BMD;CMD3B;DMD;DXS142;DXS164;DXS206;DXS230;DXS239;DXS268;DXS269;DXS270;DXS272;MRX85", "protein_name": "Dystrophin", "disease": [ { "disease_id": "DOID:0050925", "name": "small intestine carcinoid neuroendocrine tumor", "description": "A neuroendocrine tumor that has_material_basis_in cells of the neuroendocrine system and that is located in the small intestine.", "url": "https://disease-ontology.org/term/DOID:0050925", "evidence": [ { "id": "0050925", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050925" } ], "weight": 0.0 }, { "disease_id": "DOID:0060733", "name": "junctional epidermolysis bullosa with pyloric atresia", "description": "A junctional epidermolysis bullosa characterized by generalized blistering at birth with congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract and that has_material_basis_in mutations in the ITGB4 or ITGA6 genes.", "url": "https://disease-ontology.org/term/DOID:0060733", "evidence": [ { "id": "0060733", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060733" }, { "id": "0060733", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060733" } ], "weight": 0.0 }, { "disease_id": "DOID:0060738", "name": "junctional epidermolysis bullosa non-Herlitz type", "description": "A junctional epidermolysis bullosa characterized by skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in several genes including COL17A1, ITGB4 and the 3 genes that encode the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The non-Herlitz type is less severe than the related Herlitz type of junctional epidermolysis bullosa.", "url": "https://disease-ontology.org/term/DOID:0060738", "evidence": [ { "id": "0060738", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060738" } ], "weight": 0.0 }, { "disease_id": "DOID:0081164", "name": "obsolete dilated cardiomyopathy 3B", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the gene encoding dystrophin (DMD) on chromosome Xp21.", "url": "https://disease-ontology.org/term/DOID:0081164", "evidence": [ { "id": "302045", "database": "MIM", "url": "https://www.omim.org/entry/302045" } ], "weight": 0.0 }, { "disease_id": "DOID:0110461", "name": "dilated cardiomyopathy 3B", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the dystrophin (DMD) gene encoding dystrophin on chromosome Xp21.", "url": "https://disease-ontology.org/term/DOID:0110461", "evidence": [ { "id": "0110461", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110461" } ], "weight": 0.0 }, { "disease_id": "DOID:1059", "name": "intellectual disability", "description": "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.", "url": "https://disease-ontology.org/term/DOID:1059", "evidence": [ { "id": "1059", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1059" } ], "weight": 0.0 }, { "disease_id": "DOID:11723", "name": "Duchenne muscular dystrophy", "description": "A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.", "url": "https://disease-ontology.org/term/DOID:11723", "evidence": [ { "id": "11723", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11723" } ], "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:1561", "name": "cognitive disorder", "description": "A disease of mental health that affects cognitive functions including memory processing, perception and problem solving.", "url": "https://disease-ontology.org/term/DOID:1561", "evidence": [ { "id": "1561", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1561" } ], "weight": 0.0 }, { "disease_id": "DOID:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID:3209", "name": "junctional epidermolysis bullosa", "description": "An epidermolysis bullosa that is characterized by recurrent blistering located in the lamina lucida of the basement membrane secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in genes related to laminin 332, which strengthens the skin.", "url": "https://disease-ontology.org/term/DOID:3209", "evidence": [ { "id": "3209", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3209" } ], "weight": 0.0 }, { "disease_id": "DOID:4724", "name": "brain edema", "description": "A brain disease that is characterized by excess accumulation of fluid in the intracellular and/or extracellular spaces of the brain, has_symptom nausea, has_symptom vomiting, has_symptom blurred vision, has_symptom seizure, has_symptom coma.", "url": "https://disease-ontology.org/term/DOID:4724", "evidence": [ { "id": "4724", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4724" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:767", "name": "muscular atrophy", "description": "", "url": "https://disease-ontology.org/term/DOID:767", "evidence": [ { "id": "767", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:767" } ], "weight": 0.0 }, { "disease_id": "DOID:8466", "name": "retinal degeneration", "description": "A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.", "url": "https://disease-ontology.org/term/DOID:8466", "evidence": [ { "id": "8466", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8466" } ], "weight": 0.0 }, { "disease_id": "DOID:9883", "name": "Becker muscular dystrophy", "description": "A muscular dystrophy that involves slowly worsening muscle weakness of the legs and pelvis, and has_material_basis_in X-linked recessive inheritance of mutation in the dystrophin gene on chromosome Xp21.", "url": "https://disease-ontology.org/term/DOID:9883", "evidence": [ { "id": "300376", "database": "MIM", "url": "https://www.omim.org/entry/300376" }, { "id": "9883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9883" } ], "weight": 0.0 }, { "disease_id": "DOID:9884", "name": "muscular dystrophy", "description": "A myopathy is characterized by progressive skeletal muscle weakness degeneration.", "url": "https://disease-ontology.org/term/DOID:9884", "evidence": [ { "id": "9884", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9884" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "dystrophin-associated glycoprotein complex", "id": "GO:0016010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016010", "evidence": [ { "database": "UniProtKB", "id": "P11532", "url": "https://www.uniprot.org/uniprotkb/P11532" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P11532", "url": "https://www.uniprot.org/uniprotkb/P11532" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P11532", "url": "https://www.uniprot.org/uniprotkb/P11532" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "P11532", "url": "https://www.uniprot.org/uniprotkb/P11532" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P11532", "url": "https://www.uniprot.org/uniprotkb/P11532" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P11532", "url": "https://www.uniprot.org/uniprotkb/P11532" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "P11532", "url": "https://www.uniprot.org/uniprotkb/P11532" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P11532", "url": "https://www.uniprot.org/uniprotkb/P11532" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "P11532", "url": "https://www.uniprot.org/uniprotkb/P11532" } ], "pmid": "" }, { "name": "filopodium", "id": "GO:0030175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030175", "evidence": [ { "database": "UniProtKB", "id": "P11532", "url": "https://www.uniprot.org/uniprotkb/P11532" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "P11532", "url": "https://www.uniprot.org/uniprotkb/P11532" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "P11532", "url": "https://www.uniprot.org/uniprotkb/P11532" } ], "pmid": "" }, { "name": "filopodium membrane", "id": "GO:0031527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031527", "evidence": [ { "database": "UniProtKB", "id": "P11532", "url": "https://www.uniprot.org/uniprotkb/P11532" } ], "pmid": "" }, { "name": "costamere", "id": "GO:0043034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043034", "evidence": [ { "database": "UniProtKB", "id": "P11532", "url": "https://www.uniprot.org/uniprotkb/P11532" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P11532", "url": "https://www.uniprot.org/uniprotkb/P11532" } ], "pmid": "" }, { "name": "syntrophin complex", "id": "GO:0016013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016013", "evidence": [ { "database": "UniProtKB", "id": "P11532", "url": "https://www.uniprot.org/uniprotkb/P11532" } ], "pmid": "" }, { "name": "cell-substrate junction", "id": "GO:0030055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030055", "evidence": [ { "database": "UniProtKB", "id": "P11532", "url": "https://www.uniprot.org/uniprotkb/P11532" } ], "pmid": "" }, { "name": "neuron projection terminus", "id": "GO:0044306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044306", "evidence": [ { "database": "UniProtKB", "id": "P11532", "url": "https://www.uniprot.org/uniprotkb/P11532" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P11532", "url": "https://www.uniprot.org/uniprotkb/P11532" } ], "pmid": "" }, { "name": "myofibril", "id": "GO:0030016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030016", "evidence": [ { "database": "UniProtKB", "id": "P11532", "url": "https://www.uniprot.org/uniprotkb/P11532" } ], "pmid": "" }, { "name": "organelle", "id": "GO:0043226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043226", "evidence": [ { "database": "UniProtKB", "id": "P11532", "url": "https://www.uniprot.org/uniprotkb/P11532" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "P11532", "url": "https://www.uniprot.org/uniprotkb/P11532" } ], "pmid": "" }, { "name": "structural constituent of cytoskeleton", "id": "GO:0005200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005200", "evidence": [ { "database": "UniProtKB", "id": "P11532", "url": "https://www.uniprot.org/uniprotkb/P11532" } ], "pmid": "" }, { "name": "zinc ion binding", "id": 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"positive regulation of neuron differentiation", "id": "GO:0045666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666", "evidence": [ { "database": "UniProtKB", "id": "P11532", "url": "https://www.uniprot.org/uniprotkb/P11532" } ], "pmid": "" }, { "name": "muscle cell cellular homeostasis", "id": "GO:0046716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046716", "evidence": [ { "database": "UniProtKB", "id": "P11532", "url": "https://www.uniprot.org/uniprotkb/P11532" } ], "pmid": "" }, { "name": "muscle organ development", "id": "GO:0007517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007517", "evidence": [ { "database": "UniProtKB", "id": "P11532", "url": "https://www.uniprot.org/uniprotkb/P11532" } ], "pmid": "" }, { "name": "cardiac muscle contraction", "id": "GO:0060048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060048", "evidence": [ { "database": "UniProtKB", "id": "P11532", "url": "https://www.uniprot.org/uniprotkb/P11532" } ], "pmid": "" }, { "name": 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"620728", "database": "MIM", "url": "https://www.omim.org/entry/620728" }, { "id": "0060943", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060943" } ], "weight": 0.0 }, { "disease_id": "DOID:0061200", "name": "Bethlem myopathy 1C", "description": "A Bethlem myopathy that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the COL6A3 gene on chromosome 2q37.", "url": "https://disease-ontology.org/term/DOID:0061200", "evidence": [ { "id": "620726", "database": "MIM", "url": "https://www.omim.org/entry/620726" }, { "id": "0061200", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061200" } ], "weight": 0.0 }, { "disease_id": "DOID:0080015", "name": "physical disorder", "description": "A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.", "url": "https://disease-ontology.org/term/DOID:0080015", "evidence": [ { "id": "0080015", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080015" } ], "weight": 0.0 }, { "disease_id": "DOID:0080205", "name": "congenital anomalies of the kidney and urinary tract", "description": "A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux.", "url": "https://disease-ontology.org/term/DOID:0080205", "evidence": [ { "id": "0080205", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080205" } ], "weight": 0.0 }, { "disease_id": "DOID:0080207", "name": "congenital anomalies of the kidney and urinary tract 2", "description": "A congenital anomalies of the kidney and urinary tract that has_material_basis_in heterozygous mutation in the TBX18 gene on chromosome 6q14.", "url": "https://disease-ontology.org/term/DOID:0080207", "evidence": [ { "id": "0080207", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080207" }, { "id": "0080207", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080207" } ], "weight": 0.0 }, { "disease_id": "DOID:0080313", "name": "cleft palate-lateral synechia syndrome", "description": "A physical disorder that is characterized by fusion of maxilla and mandible.", "url": "https://disease-ontology.org/term/DOID:0080313", "evidence": [ { "id": "0080313", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080313" } ], "weight": 0.0 }, { "disease_id": "DOID:0080404", "name": "orofacial cleft 11", "description": "An orofacial cleft that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22.", "url": "https://disease-ontology.org/term/DOID:0080404", "evidence": [ { "id": "0080404", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080404" }, { "id": "0080404", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080404" } ], "weight": 0.0 }, { "disease_id": "DOID:0090050", "name": "dystonia 27", "description": "A segmental dystonia characterized by autosomal recessive inheritance of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs with onset in the first 2 decades of life that has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the collagen type VI alpha-3 gene on chromosome 2q37.", "url": "https://disease-ontology.org/term/DOID:0090050", "evidence": [ { "id": "616411", "database": "MIM", "url": "https://www.omim.org/entry/616411" }, { "id": "0090050", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090050" } ], "weight": 0.0 }, { "disease_id": "DOID:0110122", "name": "Axenfeld-Rieger syndrome type 3", "description": "An Axenfeld-Rieger characterized by an anteriorly displaced Schwalbe line, the presence of another ocular anomaly (hypoplasia of iris stroma, corectopia, or iridocorneal adhesions), and nonocular anomalies including maxillary hypoplasia, hypodontia, microdontia, protuberant periumbilical skin, sensorineural hearing loss, and congenital cardiac or renal anomalies syndrome that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25.", "url": "https://disease-ontology.org/term/DOID:0110122", "evidence": [ { "id": "0110122", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110122" } ], "weight": 0.0 }, { "disease_id": "DOID:0111535", "name": "progressive osseous heteroplasia", "description": "A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has_material_basis_in heterozygous loss of function mutation in the Gs-alpha isoform of the GNAS gene on chromosome 20q13.32.", "url": "https://disease-ontology.org/term/DOID:0111535", "evidence": [ { "id": "0111535", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111535" } ], "weight": 0.0 }, { "disease_id": "DOID:0111805", "name": "syndromic microphthalmia 6", "description": "A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22.2.", "url": "https://disease-ontology.org/term/DOID:0111805", "evidence": [ { "id": "0111805", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111805" }, { "id": "0111805", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111805" } ], "weight": 0.0 }, { "disease_id": "DOID:10126", "name": "keratoconus", "description": "A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape.", "url": "https://disease-ontology.org/term/DOID:10126", "evidence": [ { "id": "10126", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10126" }, { "id": "10126", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10126" } ], "weight": 0.0 }, { "disease_id": "DOID:10286", "name": "prostate carcinoma", "description": "A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:10286", "evidence": [ { "id": "10286", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10286" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "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:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID: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:11963", "name": "esophagitis", "description": "", "url": "https://disease-ontology.org/term/DOID:11963", "evidence": [ { "id": "11963", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11963" } ], "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:1222", "name": "cartilage disease", "description": "A connective tissue disease that is located_in cartilage.", "url": "https://disease-ontology.org/term/DOID:1222", "evidence": [ { "id": "1222", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1222" } ], "weight": 0.0 }, { "disease_id": "DOID:13207", "name": "proliferative diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:13207", "evidence": [ { "id": "13207", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13207" } ], "weight": 0.0 }, { "disease_id": "DOID:13223", "name": "uterine fibroid", "description": "An uterine benign neoplasm derived from the smooth muscle layer of the uterus.", "url": "https://disease-ontology.org/term/DOID:13223", "evidence": [ { "id": "13223", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13223" } ], "weight": 0.0 }, { "disease_id": "DOID:13374", "name": "fibrodysplasia ossificans progressiva", "description": "A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene.", "url": "https://disease-ontology.org/term/DOID:13374", "evidence": [ { "id": "13374", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13374" } ], "weight": 0.0 }, { "disease_id": "DOID:13515", "name": "tuberous sclerosis", "description": "A hamartoma syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body.", "url": "https://disease-ontology.org/term/DOID:13515", "evidence": [ { "id": "13515", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13515" } ], "weight": 0.0 }, { "disease_id": "DOID:13976", "name": "peptic esophagitis", "description": "", "url": "https://disease-ontology.org/term/DOID:13976", "evidence": [ { "id": "13976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13976" } ], "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:14323", "name": "Marfan syndrome", "description": "A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.", "url": "https://disease-ontology.org/term/DOID:14323", "evidence": [ { "id": "14323", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14323" } ], "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:18", "name": "urinary system disease", "description": "A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra.", "url": "https://disease-ontology.org/term/DOID:18", "evidence": [ { "id": "18", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:18" } ], "weight": 0.0 }, { "disease_id": "DOID:182", "name": "calcinosis", "description": "A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue.", "url": "https://disease-ontology.org/term/DOID:182", "evidence": [ { "id": "182", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:182" } ], "weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID:1882", "name": "atrial heart septal defect", "description": "A heart septal defect located_in in the septum that separates the two atria of the heart.", "url": "https://disease-ontology.org/term/DOID:1882", "evidence": [ { "id": "1882", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1882" } ], "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:2033", "name": "communication disorder", "description": "A specific developmental disorder that involves specific developmental disorders of speech and language.", "url": "https://disease-ontology.org/term/DOID:2033", "evidence": [ { "id": "2033", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2033" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:3827", "name": "congenital diaphragmatic hernia", "description": "A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs.", "url": "https://disease-ontology.org/term/DOID:3827", "evidence": [ { "id": "3827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3827" } ], "weight": 0.0 }, { "disease_id": "DOID:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5394", "name": "prolactinoma", "description": "", "url": "https://disease-ontology.org/term/DOID:5394", "evidence": [ { "id": "5394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5394" } ], "weight": 0.0 }, { "disease_id": "DOID:540", "name": "strabismus", "description": "A hyperopia that is characterized by eyes that do not properly align with each other when looking at an object.", "url": "https://disease-ontology.org/term/DOID:540", "evidence": [ { "id": "540", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:540" } ], "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:668", "name": "myositis ossificans", "description": "A myositis that is accompanied by ossification of muscle tissue or bony deposits in the muscles.", "url": "https://disease-ontology.org/term/DOID:668", "evidence": [ { "id": "668", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:668" } ], "weight": 0.0 }, { "disease_id": "DOID:784", "name": "chronic kidney disease", "description": "A kidney failure that is characterized by the gradual loss of kidney function, present for a minimum of 3 months. CKD is classified based on cause, glomerular filtration rate (GFR) category (G2-G5), and albuminuria category (A1-A3).", "url": "https://disease-ontology.org/term/DOID:784", "evidence": [ { "id": "784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:784" } ], "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:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 }, { "disease_id": "DOID:9206", "name": "Barrett's esophagus", "description": "An esophageal disease characterized by a change of normal esophageal squamous epithelium to a columnar and intestinal-type epithelium.", "url": "https://disease-ontology.org/term/DOID:9206", "evidence": [ { "id": "9206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9206" }, { "id": "9206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9206" }, { "id": "9206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9206" } ], "weight": 0.0 }, { "disease_id": "DOID:9296", "name": "cleft lip", "description": "An orofacial cleft that is characterized by a congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences.", "url": "https://disease-ontology.org/term/DOID:9296", "evidence": [ { "id": "9296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9296" } ], "weight": 0.0 }, { "disease_id": "DOID:9884", "name": "muscular dystrophy", "description": "A myopathy is characterized by progressive skeletal muscle weakness degeneration.", "url": "https://disease-ontology.org/term/DOID:9884", "evidence": [ { "id": "9884", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9884" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "serine-type endopeptidase inhibitor activity", "id": "GO:0004867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004867", "evidence": [ { "database": "UniProtKB", "id": "P12111", "url": "https://www.uniprot.org/uniprotkb/P12111" } ], "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": "P12111", "url": "https://www.uniprot.org/uniprotkb/P12111" } ], "pmid": "" } ], 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"malignant astrocytoma", "description": "A malignant glioma that is has_material_basis_in astrocyte cells, a type of star-shaped glial cell, located in the brain and spinal cord.", "url": "https://disease-ontology.org/term/DOID:3069", "evidence": [ { "id": "3069", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3069" } ], "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: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:4992", "name": "optic nerve glioma", "description": "", "url": "https://disease-ontology.org/term/DOID:4992", "evidence": [ { "id": "4992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4992" } ], "weight": 0.0 }, { "disease_id": "DOID:5151", "name": "plexiform neurofibroma", "description": "", "url": "https://disease-ontology.org/term/DOID:5151", "evidence": [ { "id": "5151", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5151" } ], "weight": 0.0 }, { "disease_id": "DOID:535", "name": "sleep disorder", "description": "A disease of mental health that involves disruption of sleep patterns.", "url": "https://disease-ontology.org/term/DOID:535", "evidence": [ { "id": "535", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:535" } ], "weight": 0.0 }, { "disease_id": "DOID:8712", "name": "neurofibromatosis", "description": "", "url": "https://disease-ontology.org/term/DOID:8712", "evidence": [ { "id": "8712", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8712" } ], "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 } ], "biological_process": [ { "name": "regulation of bone resorption", "id": "GO:0045124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045124", "evidence": [ { "database": "UniProtKB", "id": "P21359", "url": "https://www.uniprot.org/uniprotkb/P21359" } ], "pmid": "" }, { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "P21359", "url": "https://www.uniprot.org/uniprotkb/P21359" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P21359", "url": "https://www.uniprot.org/uniprotkb/P21359" } ], "pmid": "" }, { "name": "visual learning", "id": "GO:0008542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008542", "evidence": [ { "database": "UniProtKB", "id": "P21359", "url": "https://www.uniprot.org/uniprotkb/P21359" } ], "pmid": "" }, { "name": 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}, { "name": "positive regulation of GTPase activity", "id": "GO:0043547", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043547", "evidence": [ { "database": "UniProtKB", "id": "P21359", "url": "https://www.uniprot.org/uniprotkb/P21359" } ], "pmid": "" }, { "name": "cognition", "id": "GO:0050890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050890", "evidence": [ { "database": "UniProtKB", "id": "P21359", "url": "https://www.uniprot.org/uniprotkb/P21359" } ], "pmid": "" }, { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "P21359", "url": "https://www.uniprot.org/uniprotkb/P21359" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P21359", "url": "https://www.uniprot.org/uniprotkb/P21359" } ], "pmid": "" }, { "name": "cerebral cortex development", "id": "GO:0021987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021987", "evidence": [ { "database": "UniProtKB", "id": "P21359", "url": "https://www.uniprot.org/uniprotkb/P21359" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "P21359", "url": "https://www.uniprot.org/uniprotkb/P21359" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "P21359", "url": "https://www.uniprot.org/uniprotkb/P21359" } ], "pmid": "" }, { "name": "Ras protein signal transduction", "id": "GO:0007265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007265", "evidence": [ { "database": "UniProtKB", "id": "P21359", "url": "https://www.uniprot.org/uniprotkb/P21359" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "P21359", "url": "https://www.uniprot.org/uniprotkb/P21359" } ], "pmid": "" }, { "name": "collagen fibril organization", "id": "GO:0030199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030199", "evidence": [ { "database": "UniProtKB", "id": "P21359", "url": "https://www.uniprot.org/uniprotkb/P21359" } ], "pmid": "" }, { "name": "negative regulation of endothelial cell proliferation", "id": "GO:0001937", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001937", "evidence": [ { "database": "UniProtKB", "id": "P21359", "url": "https://www.uniprot.org/uniprotkb/P21359" } ], "pmid": "" }, { "name": "negative regulation of fibroblast proliferation", "id": "GO:0048147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048147", "evidence": [ { "database": "UniProtKB", "id": "P21359", "url": "https://www.uniprot.org/uniprotkb/P21359" } ], "pmid": "" }, { "name": "peripheral nervous system development", "id": "GO:0007422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007422", "evidence": [ { "database": "UniProtKB", "id": "P21359", "url": "https://www.uniprot.org/uniprotkb/P21359" } ], "pmid": "" }, { "name": "cell communication", "id": "GO:0007154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007154", "evidence": [ { "database": "UniProtKB", "id": "P21359", "url": "https://www.uniprot.org/uniprotkb/P21359" } ], "pmid": "" }, { "name": "positive regulation of neuron apoptotic process", "id": "GO:0043525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043525", "evidence": [ { "database": "UniProtKB", "id": "P21359", "url": "https://www.uniprot.org/uniprotkb/P21359" } ], "pmid": "" }, { "name": "regulation of intracellular signal transduction", "id": "GO:1902531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902531", "evidence": [ { "database": "UniProtKB", "id": "P21359", "url": "https://www.uniprot.org/uniprotkb/P21359" } ], "pmid": "" }, { "name": "myelination in peripheral nervous system", "id": "GO:0022011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022011", "evidence": [ { "database": "UniProtKB", "id": "P21359", "url": "https://www.uniprot.org/uniprotkb/P21359" } ], "pmid": "" }, { "name": "regulation of angiogenesis", "id": "GO:0045765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045765", "evidence": [ { "database": "UniProtKB", "id": "P21359", "url": "https://www.uniprot.org/uniprotkb/P21359" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "P21359", "url": "https://www.uniprot.org/uniprotkb/P21359" } ], "pmid": "" }, { "name": "adrenal gland development", "id": "GO:0030325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030325", "evidence": [ { "database": "UniProtKB", "id": "P21359", "url": "https://www.uniprot.org/uniprotkb/P21359" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0043491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043491", "evidence": [ { "database": "UniProtKB", "id": "P21359", "url": "https://www.uniprot.org/uniprotkb/P21359" } ], "pmid": "" }, { "name": "metanephros development", "id": "GO:0001656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001656", "evidence": [ { "database": "UniProtKB", "id": "P21359", "url": "https://www.uniprot.org/uniprotkb/P21359" } ], "pmid": "" }, { "name": "sympathetic nervous system development", "id": "GO:0048485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048485", "evidence": [ { "database": "UniProtKB", "id": "P21359", "url": "https://www.uniprot.org/uniprotkb/P21359" } ], "pmid": "" }, { "name": "camera-type eye morphogenesis", "id": "GO:0048593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048593", "evidence": [ { "database": "UniProtKB", "id": "P21359", "url": "https://www.uniprot.org/uniprotkb/P21359" } ], "pmid": "" }, { "name": "artery morphogenesis", "id": "GO:0048844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048844", "evidence": [ { "database": "UniProtKB", "id": "P21359", "url": "https://www.uniprot.org/uniprotkb/P21359" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "P21359", "url": "https://www.uniprot.org/uniprotkb/P21359" } ], "pmid": "" }, { "name": "pigmentation", "id": "GO:0043473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043473", "evidence": [ { "database": "UniProtKB", "id": "P21359", "url": "https://www.uniprot.org/uniprotkb/P21359" } ], "pmid": "" }, { "name": "negative regulation of MAPK cascade", "id": "GO:0043409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043409", "evidence": [ { "database": "UniProtKB", "id": "P21359", "url": "https://www.uniprot.org/uniprotkb/P21359" } ], "pmid": "" }, { "name": "negative regulation of neuroblast proliferation", "id": "GO:0007406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007406", "evidence": [ { "database": "UniProtKB", "id": "P21359", "url": "https://www.uniprot.org/uniprotkb/P21359" } ], "pmid": "" }, { "name": "forebrain morphogenesis", "id": "GO:0048853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048853", "evidence": [ { "database": "UniProtKB", "id": "P21359", "url": "https://www.uniprot.org/uniprotkb/P21359" } ], "pmid": "" }, { "name": "Schwann cell development", "id": "GO:0014044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014044", "evidence": [ { "database": "UniProtKB", "id": "P21359", "url": "https://www.uniprot.org/uniprotkb/P21359" } ], "pmid": "" }, { "name": "regulation of cell-matrix adhesion", "id": "GO:0001952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001952", "evidence": [ { "database": "UniProtKB", "id": "P21359", "url": "https://www.uniprot.org/uniprotkb/P21359" } ], "pmid": "" }, { "name": "smooth muscle tissue development", "id": "GO:0048745", "url": 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Pathogenic variants in RYR1 have been found in some individuals with King-Denborough syndrome.", "url": "https://disease-ontology.org/term/DOID:0080990", "evidence": [ { "id": "619542", "database": "MIM", "url": "https://www.omim.org/entry/619542" }, { "id": "0080990", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080990" } ], "weight": 0.0 }, { "disease_id": "DOID:0080991", "name": "congenital myopathy 1B", "description": "A congenital myopathy that is characterized by multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores' and that has_material_basis_in homozygous or compound heterozygous mutation in the RYR1 gene on chromosome 19q13. Multiminocore disease is broadly classified into four groups: classic form, moderate form with hand involvement, antenatal form with arthrogryposis multiplex congenita, and ophthalmoplegic form.", "url": "https://disease-ontology.org/term/DOID:0080991", "evidence": [ { "id": "255320", "database": "MIM", "url": "https://www.omim.org/entry/255320" }, { "id": "0080991", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080991" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:11714", "name": "gestational diabetes", "description": "A diabetes mellitus that manifests during pregnancy.", "url": "https://disease-ontology.org/term/DOID:11714", "evidence": [ { "id": "11714", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11714" } ], "weight": 0.0 }, { "disease_id": "DOID:13100", "name": "intracranial vasospasm", "description": "", "url": "https://disease-ontology.org/term/DOID:13100", "evidence": [ { "id": "13100", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13100" } ], "weight": 0.0 }, { "disease_id": "DOID:14557", "name": "primary pulmonary hypertension", "description": "A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling.", "url": "https://disease-ontology.org/term/DOID:14557", "evidence": [ { "id": "14557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14557" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:2256", "name": "osteochondrodysplasia", "description": "A bone development disease that results_in defective development of cartilage or bone.", "url": "https://disease-ontology.org/term/DOID:2256", "evidence": [ { "id": "2256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2256" } ], "weight": 0.0 }, { "disease_id": "DOID:3529", "name": "congenital myopathy 1A", "description": "A congenital myopathy that is characterized by muscle weakness primarily affecting the proximal muscles of the lower limbs beginning in infancy or early childhood, although later onset of symptoms has been reported and that has_material_basis_in heterozygous mutation in the ryanodine receptor-1 gene (RYR1) on chromosome 19q13. Heterozygous mutation in the RYR1 gene also causes susceptibility to malignant hyperthermia-1 (MHS1), patients with CMYP1A are at risk for MHS. Biallelic mutations in the RYR1 gene cause autosomal recessive CMYP1B, which shows overlapping features, but is typically more severe.", "url": "https://disease-ontology.org/term/DOID:3529", "evidence": [ { "id": "3529", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3529" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8545", "name": "malignant hyperthermia", "description": "A muscle tissue disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature and that has_material_basis_in heterozygous mutation in the ryanodine receptor gene (RYR1) on chromosome 19q13. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine).", "url": "https://disease-ontology.org/term/DOID:8545", "evidence": [ { "id": "8545", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8545" } ], "weight": 0.0 } ], "biological_process": [ { "name": "ossification involved in bone maturation", "id": "GO:0043931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043931", "evidence": [ { "database": "UniProtKB", "id": "P21817", "url": "https://www.uniprot.org/uniprotkb/P21817" } ], "pmid": "" }, { "name": "muscle contraction", "id": "GO:0006936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006936", "evidence": [ { "database": "UniProtKB", "id": "P21817", "url": "https://www.uniprot.org/uniprotkb/P21817" } ], "pmid": "" }, { "name": "protein homotetramerization", "id": "GO:0051289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051289", "evidence": [ { "database": "UniProtKB", "id": "P21817", "url": "https://www.uniprot.org/uniprotkb/P21817" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P21817", "url": "https://www.uniprot.org/uniprotkb/P21817" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "P21817", "url": "https://www.uniprot.org/uniprotkb/P21817" } ], "pmid": "" }, { "name": "response to caffeine", "id": "GO:0031000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031000", "evidence": [ { "database": "UniProtKB", "id": "P21817", "url": "https://www.uniprot.org/uniprotkb/P21817" } ], "pmid": "" }, { "name": "regulation of cytosolic calcium ion concentration", "id": "GO:0051480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051480", "evidence": [ { "database": "UniProtKB", "id": "P21817", "url": "https://www.uniprot.org/uniprotkb/P21817" } ], "pmid": "" }, { "name": "cellular response to calcium ion", "id": "GO:0071277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071277", "evidence": [ { "database": "UniProtKB", "id": "P21817", "url": "https://www.uniprot.org/uniprotkb/P21817" } ], "pmid": "" }, { "name": "skeletal muscle fiber development", "id": "GO:0048741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048741", "evidence": [ { "database": "UniProtKB", "id": "P21817", "url": "https://www.uniprot.org/uniprotkb/P21817" } ], "pmid": "" }, { "name": "release of sequestered calcium ion into cytosol", "id": "GO:0051209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051209", "evidence": [ { "database": "UniProtKB", "id": "P21817", "url": "https://www.uniprot.org/uniprotkb/P21817" } ], "pmid": "" }, { "name": "skin development", "id": "GO:0043588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043588", "evidence": [ { "database": "UniProtKB", "id": "P21817", "url": "https://www.uniprot.org/uniprotkb/P21817" } ], "pmid": "" }, { "name": "striated muscle contraction", "id": "GO:0006941", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006941", "evidence": [ { "database": "UniProtKB", "id": "P21817", "url": "https://www.uniprot.org/uniprotkb/P21817" } ], "pmid": "" }, { "name": "outflow tract morphogenesis", "id": "GO:0003151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003151", "evidence": [ { "database": "UniProtKB", "id": "P21817", "url": "https://www.uniprot.org/uniprotkb/P21817" } ], "pmid": "" }, { "name": "release of sequestered calcium ion into cytosol by sarcoplasmic reticulum", "id": "GO:0014808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014808", "evidence": [ { "database": "UniProtKB", "id": "P21817", "url": "https://www.uniprot.org/uniprotkb/P21817" } ], "pmid": "" }, { "name": "cellular response to caffeine", "id": "GO:0071313", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071313", "evidence": [ { "database": "UniProtKB", "id": "P21817", "url": "https://www.uniprot.org/uniprotkb/P21817" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "P21817", "url": "https://www.uniprot.org/uniprotkb/P21817" } ], "pmid": "" } ], "molecular_function": [ { "name": "calcium channel activity", "id": "GO:0005262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005262", "evidence": [ { "database": "UniProtKB", "id": "P21817", "url": "https://www.uniprot.org/uniprotkb/P21817" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "P21817", "url": "https://www.uniprot.org/uniprotkb/P21817" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P21817", "url": "https://www.uniprot.org/uniprotkb/P21817" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P21817", "url": "https://www.uniprot.org/uniprotkb/P21817" } ], "pmid": "" }, { "name": "intracellularly gated calcium channel activity", "id": "GO:0015278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015278", "evidence": [ { "database": "UniProtKB", "id": "P21817", "url": "https://www.uniprot.org/uniprotkb/P21817" } ], "pmid": "" }, { "name": "calcium-induced calcium release activity", "id": "GO:0048763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048763", "evidence": [ { "database": "UniProtKB", "id": "P21817", "url": "https://www.uniprot.org/uniprotkb/P21817" } ], "pmid": "" }, { "name": "voltage-gated calcium channel activity", "id": "GO:0005245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005245", "evidence": [ { "database": "UniProtKB", "id": "P21817", "url": "https://www.uniprot.org/uniprotkb/P21817" } ], "pmid": "" }, { "name": "ryanodine-sensitive calcium-release channel activity", "id": "GO:0005219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005219", "evidence": [ { "database": "UniProtKB", "id": "P21817", "url": "https://www.uniprot.org/uniprotkb/P21817" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P21817", "url": "https://www.uniprot.org/uniprotkb/P21817" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P21817", "url": "https://www.uniprot.org/uniprotkb/P21817" } ], "pmid": "" }, { "name": "smooth endoplasmic reticulum", "id": "GO:0005790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005790", "evidence": [ { "database": "UniProtKB", "id": "P21817", "url": "https://www.uniprot.org/uniprotkb/P21817" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P21817", "url": "https://www.uniprot.org/uniprotkb/P21817" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "P21817", "url": "https://www.uniprot.org/uniprotkb/P21817" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P21817", "url": "https://www.uniprot.org/uniprotkb/P21817" } ], "pmid": "" }, { "name": "I band", "id": "GO:0031674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031674", 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brachydactyly, joint stiffness and distinctive ocular abnormalities.", "url": "https://disease-ontology.org/term/DOID:0050475", "evidence": [ { "id": "0050475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050475" }, { "id": "0050475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050475" } ], "weight": 0.0 }, { "disease_id": "DOID:0060218", "name": "CREST syndrome", "description": "A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia.", "url": "https://disease-ontology.org/term/DOID:0060218", "evidence": [ { "id": "0060218", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060218" } ], "weight": 0.0 }, { "disease_id": "DOID:0060249", "name": "scoliosis", "description": "A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine.", "url": "https://disease-ontology.org/term/DOID:0060249", "evidence": [ { "id": "0060249", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060249" } ], "weight": 0.0 }, { "disease_id": "DOID:0061274", "name": "Weill-Marchesani syndrome 2", "description": "A Weill-Marchesani syndrome that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21.", "url": "https://disease-ontology.org/term/DOID:0061274", "evidence": [ { "id": "608328", "database": "MIM", "url": "https://www.omim.org/entry/608328" } ], "weight": 0.0 }, { "disease_id": "DOID:0080685", "name": "aortic dissection", "description": "An aortic disease that is characterized by tearing of the intimal layer of the aorta resulting in separation of the layers of the aortic wall.", "url": "https://disease-ontology.org/term/DOID:0080685", "evidence": [ { "id": "0080685", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080685" } ], "weight": 0.0 }, { "disease_id": "DOID:0111150", "name": "autosomal dominant isolated ectopia lentis 1", "description": "An isolated ectopia lentis that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21.", "url": "https://disease-ontology.org/term/DOID:0111150", "evidence": [ { "id": "129600", "database": "MIM", "url": "https://www.omim.org/entry/129600" }, { "id": "0111150", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111150" } ], "weight": 0.0 }, { "disease_id": "DOID:0111243", "name": "acromicric dysplasia", "description": "An osteochondrodysplasia characterized by autosomal dominant inheritance of severe short stature, short hands and feet, joint limitations, mild facial anomalies, skin thickening, and bone abnormalities including delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies that has_material_basis_in heterozygous mutation in FBN1 on 15q21.1.", "url": "https://disease-ontology.org/term/DOID:0111243", "evidence": [ { "id": "102370", "database": "MIM", "url": "https://www.omim.org/entry/102370" }, { "id": "0111243", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111243" } ], "weight": 0.0 }, { "disease_id": "DOID:0111561", "name": "stiff skin syndrome", "description": "A skin disease characterized by hard, thick skin, usually over the entire body, limiting joint mobility and causing flexion contractures that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21.1.", "url": "https://disease-ontology.org/term/DOID:0111561", "evidence": [ { "id": "184900", "database": "MIM", "url": "https://www.omim.org/entry/184900" }, { "id": "0111561", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111561" } ], "weight": 0.0 }, { "disease_id": "DOID:0111726", "name": "geleophysic dysplasia 2", "description": "A geleophysic dysplasia that has_material_basis_in heterozygous mutation in exon 41 or 42 of the FBN1 gene on chromosome 15q21.1.", "url": "https://disease-ontology.org/term/DOID:0111726", "evidence": [ { "id": "614185", "database": "MIM", "url": "https://www.omim.org/entry/614185" }, { "id": "0111726", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111726" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:114", "name": "heart disease", "description": "A cardiovascular system disease that involves the heart.", "url": "https://disease-ontology.org/term/DOID:114", "evidence": [ { "id": "114", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:114" } ], "weight": 0.0 }, { "disease_id": "DOID:14323", "name": "Marfan syndrome", "description": "A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.", "url": "https://disease-ontology.org/term/DOID:14323", "evidence": [ { "id": "14323", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14323" } ], "weight": 0.0 }, { "disease_id": "DOID:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney.", "url": "https://disease-ontology.org/term/DOID:2921", "evidence": [ { "id": "2921", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ], "weight": 0.0 }, { "disease_id": "DOID:3492", "name": "mixed connective tissue disease", "description": "A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen.", "url": "https://disease-ontology.org/term/DOID:3492", "evidence": [ { "id": "3492", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3492" } ], "weight": 0.0 }, { "disease_id": "DOID:3627", "name": "aortic aneurysm", "description": "An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size.", "url": "https://disease-ontology.org/term/DOID:3627", "evidence": [ { "id": "3627", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3627" } ], "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:4783", "name": "mesangial proliferative glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:4783", "evidence": [ { "id": "4783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4783" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9835", "name": "refractive error", "description": "", "url": "https://disease-ontology.org/term/DOID:9835", "evidence": [ { "id": "9835", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9835" } ], "weight": 0.0 }, { "disease_id": "DOID:988", "name": "mitral valve prolapse", "description": "A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole.", "url": "https://disease-ontology.org/term/DOID:988", "evidence": [ { "id": "988", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:988" }, { "id": "988", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:988" }, { "id": "988", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:988" } ], "weight": 0.0 }, { "disease_id": "MONDO:0011431", "name": "MASS syndrome", "description": "A genetic disorder of connective tissue caused by mutations in the FBN1 gene. Connective tissue is the material between the cells of the body that gives tissues form and strength. Symptoms include mitral valve prolapse, nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome. Treatment is based on the individuals symptoms.", "url": "https://monarchinitiative.org/disease/MONDO:0011431", "evidence": [ { "id": "604308", "database": "MIM", "url": "https://www.omim.org/entry/604308" } ], "weight": 0.0 }, { "disease_id": "MONDO:0014831", "name": "progeroid and marfanoid aspect-lipodystrophy syndrome", "description": "", "url": "https://monarchinitiative.org/disease/MONDO:0014831", "evidence": [ { "id": "616914", "database": "MIM", "url": "https://www.omim.org/entry/616914" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "P35555", "url": "https://www.uniprot.org/uniprotkb/P35555" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "P35555", "url": "https://www.uniprot.org/uniprotkb/P35555" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P35555", "url": "https://www.uniprot.org/uniprotkb/P35555" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P35555", "url": "https://www.uniprot.org/uniprotkb/P35555" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P35555", "url": "https://www.uniprot.org/uniprotkb/P35555" } ], "pmid": "" }, { "name": "hormone activity", "id": "GO:0005179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005179", "evidence": [ { "database": "UniProtKB", "id": "P35555", "url": "https://www.uniprot.org/uniprotkb/P35555" } ], "pmid": "" }, { "name": "extracellular matrix structural constituent", "id": "GO:0005201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005201", "evidence": [ { "database": "UniProtKB", "id": "P35555", "url": "https://www.uniprot.org/uniprotkb/P35555" } ], "pmid": "" }, { "name": "extracellular matrix constituent conferring elasticity", "id": "GO:0030023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030023", "evidence": [ { "database": "UniProtKB", "id": "P35555", "url": "https://www.uniprot.org/uniprotkb/P35555" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P35555", "url": "https://www.uniprot.org/uniprotkb/P35555" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P35555", "url": "https://www.uniprot.org/uniprotkb/P35555" } ], "pmid": "" }, { "name": "endoplasmic reticulum lumen", "id": "GO:0005788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005788", "evidence": [ { "database": "UniProtKB", "id": "P35555", "url": "https://www.uniprot.org/uniprotkb/P35555" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "P35555", "url": "https://www.uniprot.org/uniprotkb/P35555" } ], "pmid": "" }, { "name": "basement membrane", "id": "GO:0005604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005604", "evidence": [ { "database": "UniProtKB", "id": "P35555", "url": "https://www.uniprot.org/uniprotkb/P35555" } ], "pmid": "" }, { "name": "microfibril", "id": "GO:0001527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001527", "evidence": [ { "database": "UniProtKB", "id": "P35555", "url": "https://www.uniprot.org/uniprotkb/P35555" } ], "pmid": "" } ], "biological_process": [ { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P35555", "url": "https://www.uniprot.org/uniprotkb/P35555" } ], "pmid": "" }, { "name": "cell adhesion mediated by integrin", "id": "GO:0033627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033627", "evidence": [ { "database": "UniProtKB", "id": "P35555", "url": "https://www.uniprot.org/uniprotkb/P35555" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "P35555", "url": "https://www.uniprot.org/uniprotkb/P35555" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "P35555", "url": "https://www.uniprot.org/uniprotkb/P35555" } ], "pmid": "" }, { "name": "glucose metabolic process", "id": "GO:0006006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006006", "evidence": [ { "database": "UniProtKB", "id": "P35555", "url": "https://www.uniprot.org/uniprotkb/P35555" } ], "pmid": "" }, { "name": "negative regulation of BMP signaling pathway", "id": "GO:0030514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030514", "evidence": [ { "database": "UniProtKB", "id": "P35555", "url": "https://www.uniprot.org/uniprotkb/P35555" } ], "pmid": "" }, { "name": "embryonic eye morphogenesis", "id": "GO:0048048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048048", "evidence": [ { "database": "UniProtKB", "id": "P35555", "url": "https://www.uniprot.org/uniprotkb/P35555" } ], "pmid": "" }, { "name": "cellular response to transforming growth factor beta stimulus", "id": "GO:0071560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071560", "evidence": [ { "database": "UniProtKB", "id": "P35555", "url": "https://www.uniprot.org/uniprotkb/P35555" } ], "pmid": "" }, { "name": "negative regulation of transforming growth factor beta receptor signaling pathway", "id": "GO:0030512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030512", "evidence": [ { "database": "UniProtKB", "id": "P35555", "url": "https://www.uniprot.org/uniprotkb/P35555" } ], "pmid": "" }, { "name": "metanephros development", "id": "GO:0001656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001656", "evidence": [ { "database": "UniProtKB", "id": "P35555", "url": "https://www.uniprot.org/uniprotkb/P35555" } ], "pmid": "" }, { "name": "negative regulation of osteoclast differentiation", "id": "GO:0045671", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045671", "evidence": [ { "database": "UniProtKB", "id": "P35555", "url": "https://www.uniprot.org/uniprotkb/P35555" } ], "pmid": "" }, { "name": "post-embryonic eye morphogenesis", "id": "GO:0048050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048050", "evidence": [ { "database": "UniProtKB", "id": "P35555", "url": "https://www.uniprot.org/uniprotkb/P35555" } ], 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characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:3459", "name": "breast carcinoma", "description": "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3459", "evidence": [ { "id": "3459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3459" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3963", "name": "thyroid gland carcinoma", "description": "A thyroid gland cancer that has_material_basis_in epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3963", "evidence": [ { "id": "3963", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3963" } ], "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:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "weight": 0.0 }, { "disease_id": "DOID:4449", "name": "macular retinal edema", "description": "", "url": "https://disease-ontology.org/term/DOID:4449", "evidence": [ { "id": "4449", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4449" } ], "weight": 0.0 }, { "disease_id": "DOID:4511", "name": "breast angiosarcoma", "description": "An angiosarcoma and sarcoma of breast and vascular neoplasm of breast that is located_in the cells that line the blood vessels within the breast or underarm area.", "url": "https://disease-ontology.org/term/DOID:4511", "evidence": [ { "id": "4511", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4511" } ], "weight": 0.0 }, { "disease_id": "DOID:4905", "name": "pancreatic carcinoma", "description": "A pancreas cancer that derives_from epithelial cells located_in the exocrine pancreas.", "url": "https://disease-ontology.org/term/DOID:4905", "evidence": [ { "id": "4905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4905" } ], "weight": 0.0 }, { "disease_id": "DOID:4914", "name": "esophagus adenocarcinoma", "description": "An esophageal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4914", "evidence": [ { "id": "4914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4914" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:5425", "name": "ovarian hyperstimulation syndrome", "description": "An ovarian disease that is characterized by cystic enlargement of the ovaries and a fluid shift from the intravascular to the third space and has_symptom abdominal pain, has_symptom nausea and has_symptom vomiting. This disease is an iatrogenic complication of assisted reproduction technology.", "url": "https://disease-ontology.org/term/DOID:5425", "evidence": [ { "id": "5425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5425" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:585", "name": "nephrolithiasis", "description": "A kidney disease characterized by the formation of stoney concentrations in the kidneys.", "url": "https://disease-ontology.org/term/DOID:585", "evidence": [ { "id": "585", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:585" } ], "weight": 0.0 }, { "disease_id": "DOID:6039", "name": "uveal melanoma", "description": "A uveal cancer that has_material_basis_in uvea pigment cells.", "url": "https://disease-ontology.org/term/DOID:6039", "evidence": [ { "id": "6039", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6039" }, { "id": "6039", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6039" } ], "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:7736", "name": "retinal telangiectasia", "description": "", "url": "https://disease-ontology.org/term/DOID:7736", "evidence": [ { "id": "7736", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7736" } ], "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:8717", "name": "decubitus ulcer", "description": "A chronic ulcer of skin where the ulcer is an ulceration of tissue deprived of adequate blood supply by prolonged pressure.", "url": "https://disease-ontology.org/term/DOID:8717", "evidence": [ { "id": "8717", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8717" } ], "weight": 0.0 }, { "disease_id": "DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "MONDO:0011191", "name": "capillary infantile hemangioma", "description": "Capillary hemangiomas are benign, highly proliferative lesions involving aberrant localized growth of capillary endothelium. They are the most common tumor of infancy, occurring in up to 10% of all births. Hemangiomas tend to appear shortly after birth and show rapid neonatal growth for up to 12 months characterized by endothelial hypercellularity and increased numbers of mast cells. This phase is followed by slow involution at a rate of about 10% per year and replacement by fibrofatty stroma. Hemangiomas are classified as distinct from vascular malformations, in that the latter are present from birth, tend to grow with the individual, do not regress, and show normal rates of endothelial cell turnover.", "url": "https://monarchinitiative.org/disease/MONDO:0011191", "evidence": [ { "id": "602089", "database": "MIM", "url": "https://www.omim.org/entry/602089" } ], "weight": 0.0 } ], "biological_process": [ { "name": "embryonic hemopoiesis", "id": "GO:0035162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035162", "evidence": [ { "database": "UniProtKB", "id": "P35968", "url": "https://www.uniprot.org/uniprotkb/P35968" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell chemotaxis", "id": "GO:2001028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001028", "evidence": [ { "database": "UniProtKB", "id": "P35968", "url": "https://www.uniprot.org/uniprotkb/P35968" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "P35968", "url": "https://www.uniprot.org/uniprotkb/P35968" } ], "pmid": "" }, { "name": "vasculogenesis", "id": "GO:0001570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001570", "evidence": [ { "database": "UniProtKB", "id": "P35968", "url": "https://www.uniprot.org/uniprotkb/P35968" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "P35968", "url": "https://www.uniprot.org/uniprotkb/P35968" } ], "pmid": "" }, { "name": "cell surface receptor protein tyrosine kinase signaling pathway", "id": "GO:0007169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007169", "evidence": [ { "database": "UniProtKB", "id": "P35968", "url": "https://www.uniprot.org/uniprotkb/P35968" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "P35968", "url": "https://www.uniprot.org/uniprotkb/P35968" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P35968", "url": "https://www.uniprot.org/uniprotkb/P35968" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "P35968", "url": "https://www.uniprot.org/uniprotkb/P35968" } ], "pmid": "" }, { "name": "peptidyl-tyrosine phosphorylation", "id": "GO:0018108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018108", "evidence": [ { "database": "UniProtKB", "id": "P35968", "url": "https://www.uniprot.org/uniprotkb/P35968" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P35968", "url": "https://www.uniprot.org/uniprotkb/P35968" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P35968", "url": "https://www.uniprot.org/uniprotkb/P35968" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "P35968", "url": "https://www.uniprot.org/uniprotkb/P35968" } ], "pmid": "" }, { "name": "positive regulation of ERK1 and ERK2 cascade", "id": "GO:0070374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070374", "evidence": [ { "database": "UniProtKB", "id": "P35968", "url": "https://www.uniprot.org/uniprotkb/P35968" } ], "pmid": "" }, { "name": "semaphorin-plexin signaling pathway", "id": "GO:0071526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071526", "evidence": [ { "database": "UniProtKB", "id": "P35968", "url": "https://www.uniprot.org/uniprotkb/P35968" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell migration", "id": "GO:0010595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010595", "evidence": [ { "database": "UniProtKB", "id": "P35968", "url": "https://www.uniprot.org/uniprotkb/P35968" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "P35968", "url": "https://www.uniprot.org/uniprotkb/P35968" } ], "pmid": "" }, { "name": "negative regulation of neuron apoptotic process", "id": "GO:0043524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043524", "evidence": [ { "database": "UniProtKB", "id": "P35968", "url": "https://www.uniprot.org/uniprotkb/P35968" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "P35968", "url": "https://www.uniprot.org/uniprotkb/P35968" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell proliferation", "id": "GO:0001938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001938", "evidence": [ { "database": "UniProtKB", "id": "P35968", "url": "https://www.uniprot.org/uniprotkb/P35968" } ], "pmid": "" }, { "name": "positive regulation of focal adhesion assembly", "id": "GO:0051894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051894", "evidence": [ { "database": "UniProtKB", "id": "P35968", "url": "https://www.uniprot.org/uniprotkb/P35968" } ], "pmid": "" }, { "name": "positive regulation of cell migration involved in sprouting angiogenesis", "id": "GO:0090050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090050", "evidence": [ { "database": "UniProtKB", "id": "P35968", "url": "https://www.uniprot.org/uniprotkb/P35968" } ], "pmid": "" }, { "name": "negative regulation of endothelial cell apoptotic process", "id": "GO:2000352", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000352", "evidence": [ { "database": "UniProtKB", "id": "P35968", "url": "https://www.uniprot.org/uniprotkb/P35968" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "P35968", "url": "https://www.uniprot.org/uniprotkb/P35968" } ], "pmid": "" }, { "name": "positive regulation of macroautophagy", "id": "GO:0016239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016239", "evidence": [ { "database": "UniProtKB", "id": "P35968", "url": "https://www.uniprot.org/uniprotkb/P35968" } ], "pmid": "" }, { "name": "positive regulation of BMP signaling pathway", "id": "GO:0030513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030513", "evidence": [ { "database": "UniProtKB", "id": "P35968", "url": "https://www.uniprot.org/uniprotkb/P35968" } ], "pmid": "" }, { "name": "vascular endothelial growth factor receptor signaling pathway", "id": "GO:0048010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048010", "evidence": [ { "database": "UniProtKB", "id": "P35968", "url": "https://www.uniprot.org/uniprotkb/P35968" } ], "pmid": "" }, { "name": "positive regulation of blood vessel endothelial cell migration", "id": "GO:0043536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043536", "evidence": [ { "database": "UniProtKB", "id": "P35968", "url": "https://www.uniprot.org/uniprotkb/P35968" } ], "pmid": "" }, { "name": "branching involved in blood vessel morphogenesis", "id": "GO:0001569", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001569", "evidence": [ { "database": "UniProtKB", "id": "P35968", "url": "https://www.uniprot.org/uniprotkb/P35968" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial depolarization", "id": "GO:0051901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051901", "evidence": [ { "database": "UniProtKB", "id": "P35968", "url": "https://www.uniprot.org/uniprotkb/P35968" } ], "pmid": "" }, { "name": "positive regulation of vasculogenesis", "id": "GO:2001214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001214", "evidence": [ { "database": "UniProtKB", "id": "P35968", "url": "https://www.uniprot.org/uniprotkb/P35968" } ], "pmid": "" }, { "name": "cellular response to vascular endothelial growth factor stimulus", "id": "GO:0035924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035924", "evidence": [ { "database": "UniProtKB", "id": "P35968", "url": "https://www.uniprot.org/uniprotkb/P35968" } ], "pmid": "" }, { "name": "endothelium development", "id": "GO:0003158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003158", "evidence": [ { "database": "UniProtKB", "id": "P35968", "url": "https://www.uniprot.org/uniprotkb/P35968" } ], "pmid": "" }, { "name": "vascular wound healing", "id": "GO:0061042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061042", "evidence": [ { "database": "UniProtKB", "id": "P35968", "url": "https://www.uniprot.org/uniprotkb/P35968" } ], "pmid": "" }, { "name": "vascular endothelial growth factor receptor-2 signaling pathway", "id": "GO:0036324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036324", "evidence": [ { "database": "UniProtKB", "id": "P35968", "url": "https://www.uniprot.org/uniprotkb/P35968" } ], "pmid": "" }, { "name": "vascular endothelial growth factor signaling pathway", "id": "GO:0038084", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038084", "evidence": [ { "database": "UniProtKB", "id": "P35968", "url": "https://www.uniprot.org/uniprotkb/P35968" } ], "pmid": "" }, { "name": "regulation of MAPK cascade", "id": "GO:0043408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043408", "evidence": [ { "database": "UniProtKB", "id": "P35968", "url": "https://www.uniprot.org/uniprotkb/P35968" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial fission", "id": "GO:0090141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090141", "evidence": [ { "database": "UniProtKB", "id": "P35968", "url": "https://www.uniprot.org/uniprotkb/P35968" } ], "pmid": "" }, { "name": "positive regulation of positive chemotaxis", "id": "GO:0050927", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050927", "evidence": [ { "database": "UniProtKB", "id": "P35968", "url": "https://www.uniprot.org/uniprotkb/P35968" } ], "pmid": "" }, { "name": "endothelial cell differentiation", "id": "GO:0045446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045446", "evidence": [ { "database": "UniProtKB", "id": "P35968", "url": "https://www.uniprot.org/uniprotkb/P35968" } ], "pmid": "" }, { "name": "endocardium development", "id": "GO:0003157", 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"database": "MIM", "url": "https://www.omim.org/entry/602501" } ], "weight": 0.0 }, { "disease_id": "MONDO:0011723", "name": "hemifacial myohyperplasia", "description": "Hemifacial myohyperplasia (HMH) is a developmental disorder that frequently affects the right side of the face and is commonly seen in males. 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The cause of HMH is unknown; but theories suggest an imbalance in the endocrine system, neuronal abnormalities, chromosomal abnormalities, random events in twinning and fetal development, and vascular or lymphatic abnormalities.", "url": "https://monarchinitiative.org/disease/MONDO:0011723", "evidence": [ { "id": "606773", "database": "MIM", "url": "https://www.omim.org/entry/606773" } ], "weight": 0.0 }, { "disease_id": "MONDO:0013125", "name": "CLAPO syndrome", "description": "CLAPO syndrome is a newly described syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O).", "url": "https://monarchinitiative.org/disease/MONDO:0013125", "evidence": [ { "id": "613089", "database": "MIM", "url": "https://www.omim.org/entry/613089" } ], "weight": 0.0 }, { "disease_id": "MONDO:0859192", "name": "cerebral cavernous malformation 4", "description": "", "url": 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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: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:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2797", "name": "idiopathic interstitial pneumonia", "description": "A pneumonia located_in the lung parenchyma of unknown cause.", "url": "https://disease-ontology.org/term/DOID:2797", "evidence": [ { "id": "2797", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2797" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "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:3328", "name": "temporal lobe epilepsy", "description": "A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.", "url": "https://disease-ontology.org/term/DOID:3328", "evidence": [ { "id": "3328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3328" } ], "weight": 0.0 }, { "disease_id": "DOID:3371", "name": "chondrosarcoma", "description": "A bone sarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage.", "url": "https://disease-ontology.org/term/DOID:3371", "evidence": [ { "id": "3371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3371" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "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: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:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:5409", "evidence": [ { "id": "5409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5409" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:767", "name": "muscular atrophy", "description": "", "url": "https://disease-ontology.org/term/DOID:767", "evidence": [ { "id": "767", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:767" } ], "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:8411", "name": "kidney angiomyolipoma", "description": "", "url": "https://disease-ontology.org/term/DOID:8411", "evidence": [ { "id": "8411", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8411" } ], "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:898", "name": "autosomal dominant polycystic kidney disease", "description": "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion.", "url": "https://disease-ontology.org/term/DOID:898", "evidence": [ { "id": "898", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:898" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID: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:0011818", "name": "isolated focal cortical dysplasia type II", "description": "", "url": "https://monarchinitiative.org/disease/MONDO:0011818", "evidence": [ { "id": "607341", "database": "MIM", "url": "https://www.omim.org/entry/607341" } ], "weight": 0.0 }, { "disease_id": "MONDO:0014716", "name": "macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome", "description": "A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterized by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behavior, and caf-au-lait spots, among others.", "url": "https://monarchinitiative.org/disease/MONDO:0014716", "evidence": [ { "id": "616638", "database": "MIM", "url": "https://www.omim.org/entry/616638" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of locomotor rhythm", "id": "GO:1904059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904059", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "cardiac cell development", "id": "GO:0055006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055006", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "negative regulation of insulin receptor signaling pathway", "id": "GO:0046627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046627", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "cellular response to nutrient", "id": "GO:0031670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031670", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "T-helper 1 cell lineage commitment", "id": "GO:0002296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002296", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "neuronal action potential", "id": "GO:0019228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019228", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "positive regulation of cell growth", "id": "GO:0030307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030307", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "regulation of actin cytoskeleton organization", "id": "GO:0032956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032956", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "regulation of cellular response to heat", "id": "GO:1900034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900034", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "negative regulation of protein localization to nucleus", "id": "GO:1900181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900181", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "regulation of macroautophagy", "id": "GO:0016241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016241", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "T cell costimulation", "id": "GO:0031295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031295", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "positive regulation of protein kinase activity", "id": "GO:0045860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045860", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "positive regulation of lipid biosynthetic process", "id": "GO:0046889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046889", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "regulation of signal transduction by p53 class mediator", "id": "GO:1901796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901796", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "positive regulation of keratinocyte migration", "id": "GO:0051549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051549", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "cytoskeleton organization", "id": "GO:0007010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "regulation of cell growth", "id": "GO:0001558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001558", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "negative regulation of autophagy", "id": "GO:0010507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010507", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "cellular response to nutrient levels", "id": "GO:0031669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031669", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "regulation of circadian rhythm", "id": "GO:0042752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042752", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "positive regulation of glycolytic process", "id": "GO:0045821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045821", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "TOR signaling", "id": "GO:0031929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031929", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "positive regulation of translation", "id": "GO:0045727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045727", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "cellular response to starvation", "id": "GO:0009267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009267", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase III", "id": "GO:0045945", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045945", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "positive regulation of epithelial to mesenchymal transition", "id": "GO:0010718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010718", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "TORC1 signaling", "id": "GO:0038202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038202", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "response to heat", "id": "GO:0009408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009408", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "negative regulation of macroautophagy", "id": "GO:0016242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016242", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "anoikis", "id": "GO:0043276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043276", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0043491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043491", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "response to amino acid", "id": "GO:0043200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043200", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "cellular response to amino acid starvation", "id": "GO:0034198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034198", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "cellular response to amino acid stimulus", "id": "GO:0071230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071230", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "regulation of osteoclast differentiation", "id": "GO:0045670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045670", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "behavioral response to pain", "id": "GO:0048266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048266", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "regulation of autophagosome assembly", 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