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It is the most common type of hypertension.", "url": "https://disease-ontology.org/term/DOID:10825", "evidence": [ { "id": "10825", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10825" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:11650", "name": "bronchopulmonary dysplasia", "description": "A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.", "url": "https://disease-ontology.org/term/DOID:11650", "evidence": [ { "id": "11650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ], "weight": 0.0 }, { "disease_id": "DOID:1210", "name": "optic neuritis", "description": "An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision.", "url": "https://disease-ontology.org/term/DOID:1210", "evidence": [ { "id": "1210", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1210" } ], "weight": 0.0 }, { "disease_id": "DOID:1214", "name": "tympanosclerosis", "description": "", "url": "https://disease-ontology.org/term/DOID:1214", "evidence": [ { "id": "1214", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1214" } ], "weight": 0.0 }, { "disease_id": "DOID:12306", "name": "vitiligo", "description": "An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.", "url": "https://disease-ontology.org/term/DOID:12306", "evidence": [ { "id": "12306", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12306" } ], "weight": 0.0 }, { "disease_id": "DOID:12361", "name": "Graves' disease", "description": "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.", "url": "https://disease-ontology.org/term/DOID:12361", "evidence": [ { "id": "12361", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12361" } ], "weight": 0.0 }, { "disease_id": "DOID:12716", "name": "newborn respiratory distress syndrome", "description": "A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts.", "url": "https://disease-ontology.org/term/DOID:12716", "evidence": [ { "id": "12716", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12716" } ], "weight": 0.0 }, { "disease_id": "DOID:12858", "name": "Huntington's disease", "description": "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.", "url": "https://disease-ontology.org/term/DOID:12858", "evidence": [ { "id": "12858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12858" } ], "weight": 0.0 }, { "disease_id": "DOID:1289", "name": "neurodegenerative disease", "description": "A central nervous system disease that results in the progressive deterioration of function or structure of neurons.", "url": "https://disease-ontology.org/term/DOID:1289", "evidence": [ { "id": "1289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1289" } ], "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: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:13208", "name": "background diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:13208", "evidence": [ { "id": "13208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13208" } ], "weight": 0.0 }, { "disease_id": "DOID:13241", "name": "Behcet's disease", "description": "An autoimmune disease that is characterized by mucocutaneous manifestations, including recurrent oral and genital ulcerations, ocular manifestations, especially chronic relapsing uveitis, and systemic vasculitis involving arteries and veins of all sizes.", "url": "https://disease-ontology.org/term/DOID:13241", "evidence": [ { "id": "13241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ], "weight": 0.0 }, { "disease_id": "DOID:13550", "name": "angle-closure glaucoma", "description": "A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis.", "url": "https://disease-ontology.org/term/DOID:13550", "evidence": [ { "id": "13550", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13550" } ], "weight": 0.0 }, { "disease_id": "DOID:13580", "name": "cholestasis", "description": "A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum.", "url": "https://disease-ontology.org/term/DOID:13580", "evidence": [ { "id": "13580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13580" } ], "weight": 0.0 }, { "disease_id": "DOID:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:1459", "evidence": [ { "id": "1459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ], "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:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:161", "name": "keratosis", "description": "A skin disease characterized_by growth of keratin on the skin or mucous membranes.", "url": "https://disease-ontology.org/term/DOID:161", "evidence": [ { "id": "161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:161" } ], "weight": 0.0 }, { "disease_id": "DOID:1679", "name": "cystitis", "description": "A bladder disease that is characterized by inflammation of the bladder.", "url": "https://disease-ontology.org/term/DOID:1679", "evidence": [ { "id": "1679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1679" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.", "url": "https://disease-ontology.org/term/DOID:1909", "evidence": [ { "id": "1909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:2527", "name": "nephrosis", "description": "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation.", "url": "https://disease-ontology.org/term/DOID:2527", "evidence": [ { "id": "2527", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2527" } ], "weight": 0.0 }, { "disease_id": "DOID:2582", "name": "acatalasia", "description": "A peroxisomal disease characterized by loss of catalase activity in erythrocytes that has_material_basis_in homozygous mutation in the CAT gene on chromosome 11p13.", "url": "https://disease-ontology.org/term/DOID:2582", "evidence": [ { "id": "2582", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2582" } ], "weight": 0.0 }, { "disease_id": "DOID:2738", "name": "pseudoxanthoma elasticum", "description": "A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system.", "url": "https://disease-ontology.org/term/DOID:2738", "evidence": [ { "id": "2738", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2738" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2876", "name": "laryngeal squamous cell carcinoma", "description": "A laryngeal carcinoma that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:2876", "evidence": [ { "id": "2876", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2876" } ], "weight": 0.0 }, { "disease_id": "DOID:2987", "name": "familial Mediterranean fever", "description": "An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.", "url": "https://disease-ontology.org/term/DOID:2987", "evidence": [ { "id": "2987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2987" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3458", "name": "breast adenocarcinoma", "description": "A breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast.", "url": "https://disease-ontology.org/term/DOID:3458", "evidence": [ { "id": "3458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3458" } ], "weight": 0.0 }, { "disease_id": "DOID:3602", "name": "toxic encephalopathy", "description": "A nervous system disease that results from exposure to neurotoxicants and is characterized by an altered mental status, memory loss, and visual problems.", "url": "https://disease-ontology.org/term/DOID:3602", "evidence": [ { "id": "3602", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3602" } ], "weight": 0.0 }, { "disease_id": "DOID:3717", "name": "gastric adenocarcinoma", "description": "A stomach carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3717", "evidence": [ { "id": "3717", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3717" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:3969", "name": "papillary thyroid carcinoma", "description": "A differentiated thyroid gland carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer and arises from the follicular cells of the thyroid gland.", "url": "https://disease-ontology.org/term/DOID:3969", "evidence": [ { "id": "3969", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3969" } ], "weight": 0.0 }, { "disease_id": "DOID:5199", "name": "ureteral obstruction", "description": "An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder.", "url": "https://disease-ontology.org/term/DOID:5199", "evidence": [ { "id": "5199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5199" } ], "weight": 0.0 }, { "disease_id": "DOID:5679", "name": "retinal disease", "description": "An eye disease that is located_in the retina.", "url": "https://disease-ontology.org/term/DOID:5679", "evidence": [ { "id": "5679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5679" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:631", "name": "fibromyalgia", "description": "A syndrome that is is characterized by chronic widespread musculoskeletal pain, fatigue, sleep disturbances, cognitive dysfunction and depression.", "url": "https://disease-ontology.org/term/DOID:631", "evidence": [ { "id": "631", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:631" } ], "weight": 0.0 }, { "disease_id": "DOID:6543", "name": "acne", "description": "A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring.", "url": "https://disease-ontology.org/term/DOID:6543", "evidence": [ { "id": "6543", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6543" } ], "weight": 0.0 }, { "disease_id": "DOID:670", "name": "amphetamine abuse", "description": "A substance abuse that involves the recurring use of amphetamines despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:670", "evidence": [ { "id": "670", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:670" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:7998", "name": "hyperthyroidism", "description": "A thyroid gland disease that involves an over production of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:7998", "evidence": [ { "id": "7998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7998" } ], "weight": 0.0 }, { "disease_id": "DOID:8295", "name": "scabies", "description": "A mite infestation that is a contagious ectoparasite skin infection caused by human itch mite Sarcoptes scabiei type hominis, which burrows into the upper layer of the skin but never below the stratum corneum causing severe itching and a rash found on the hands, folds of the wrist, elbow or knee, penis, breast, and shoulder blades.", "url": "https://disease-ontology.org/term/DOID:8295", "evidence": [ { "id": "8295", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8295" } ], "weight": 0.0 }, { "disease_id": "DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.", "url": "https://disease-ontology.org/term/DOID:83", "evidence": [ { "id": "83", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:83" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:874", "name": "bacterial pneumonia", "description": "A pneumonia involving inflammation of the lungs caused by bacteria.", "url": "https://disease-ontology.org/term/DOID:874", "evidence": [ { "id": "874", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:874" } ], "weight": 0.0 }, { "disease_id": "DOID:8741", "name": "seborrheic dermatitis", "description": "A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss.", "url": "https://disease-ontology.org/term/DOID:8741", "evidence": [ { "id": "8741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8741" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9111", "name": "cutaneous leishmaniasis", "description": "A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions.", "url": "https://disease-ontology.org/term/DOID:9111", "evidence": [ { "id": "9111", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9111" } ], "weight": 0.0 }, { "disease_id": "DOID:9182", "name": "pemphigus", "description": "An autoimmune disease of skin and connective tissue that is characterized by blistering of the outer layer of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals), causing lesions and blisters that are easily ruptured.", "url": "https://disease-ontology.org/term/DOID:9182", "evidence": [ { "id": "9182", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9182" } ], "weight": 0.0 }, { "disease_id": "DOID:9201", "name": "lichen planus", "description": "A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes.", "url": "https://disease-ontology.org/term/DOID:9201", "evidence": [ { "id": "9201", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9201" } ], "weight": 0.0 }, { "disease_id": "DOID:9281", "name": "phenylketonuria", "description": "An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.", "url": "https://disease-ontology.org/term/DOID:9281", "evidence": [ { "id": "9281", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9281" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9637", "name": "stomatitis", "description": "A mouth disease that is characterized by inflammation of the mouth and lips.", "url": "https://disease-ontology.org/term/DOID:9637", "evidence": [ { "id": "9637", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9637" } ], "weight": 0.0 }, { "disease_id": "DOID:9669", "name": "senile cataract", "description": "A cataract that is characterized by thickening and loss of transparency of the lens with age progression, caused by a multifactorial etiology related to aging.", "url": "https://disease-ontology.org/term/DOID:9669", 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"" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VLS0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLS0", "url": "https://www.uniprot.org/uniprotkb/Q9VLS0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 402, "chemical_mass": 45874.0, "gene_names": "Dmel\\CG8460;CG8460;Dmel\\CG8460;Dmel_CG8460", "protein_name": "Chitinase domain-containing protein 1", "disease": [], "molecular_function": [ { "name": "oligosaccharide binding", "id": "GO:0070492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070492", "evidence": [ { "database": "UniProtKB", "id": "Q9VLS0", "url": "https://www.uniprot.org/uniprotkb/Q9VLS0" } ], "pmid": "" }, { "name": "chitin binding", "id": "GO:0008061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008061", "evidence": [ { "database": 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The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.", "url": "https://disease-ontology.org/term/DOID:14115", "evidence": [ { "id": "14115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:2320", "name": "obstructive lung disease", "description": "A lung disease that is characterized by narrowing of pulmonary airways.", "url": "https://disease-ontology.org/term/DOID:2320", "evidence": [ { "id": "2320", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2320" } ], "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:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "weight": 0.0 }, { "disease_id": "DOID:583", "name": "hemolytic anemia", "description": "A normocytic anemia that is characterized by the rate of descruction of red blood cells exceeding the rate than they can be made.", "url": "https://disease-ontology.org/term/DOID:583", "evidence": [ { "id": "583", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:583" } ], "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:8283", "name": "peritonitis", "description": "A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output.", "url": "https://disease-ontology.org/term/DOID:8283", "evidence": [ { "id": "8283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8283" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VLT3", "url": "https://www.uniprot.org/uniprotkb/Q9VLT3" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VLT3", "url": "https://www.uniprot.org/uniprotkb/Q9VLT3" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VLT3", "url": "https://www.uniprot.org/uniprotkb/Q9VLT3" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q9VLT3", "url": "https://www.uniprot.org/uniprotkb/Q9VLT3" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q9VLT3", "url": "https://www.uniprot.org/uniprotkb/Q9VLT3" } ], "pmid": "" }, { "name": "lateral plasma membrane", "id": "GO:0016328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016328", "evidence": [ { "database": "UniProtKB", "id": "Q9VLT3", "url": "https://www.uniprot.org/uniprotkb/Q9VLT3" } ], "pmid": "" }, { "name": "apicolateral plasma membrane", "id": "GO:0016327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016327", "evidence": [ { "database": "UniProtKB", "id": "Q9VLT3", "url": "https://www.uniprot.org/uniprotkb/Q9VLT3" } ], "pmid": "" }, { "name": "septate junction", "id": "GO:0005918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005918", "evidence": [ { "database": "UniProtKB", "id": "Q9VLT3", "url": "https://www.uniprot.org/uniprotkb/Q9VLT3" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural molecule activity", "id": "GO:0005198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005198", "evidence": [ { "database": "UniProtKB", "id": "Q9VLT3", "url": "https://www.uniprot.org/uniprotkb/Q9VLT3" } ], "pmid": "" }, { "name": "endopeptidase inhibitor activity", "id": "GO:0004866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004866", "evidence": [ { "database": "UniProtKB", "id": "Q9VLT3", "url": "https://www.uniprot.org/uniprotkb/Q9VLT3" } ], "pmid": "" } ], "biological_process": [ { "name": "phagocytosis, recognition", "id": "GO:0006910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006910", "evidence": [ { "database": "UniProtKB", "id": "Q9VLT3", "url": "https://www.uniprot.org/uniprotkb/Q9VLT3" } ], "pmid": "" }, { "name": "defense response to fungus", "id": "GO:0050832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050832", "evidence": [ { "database": "UniProtKB", "id": "Q9VLT3", "url": "https://www.uniprot.org/uniprotkb/Q9VLT3" } ], "pmid": "" }, { "name": "dorsal closure", "id": "GO:0007391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007391", "evidence": [ { "database": "UniProtKB", "id": "Q9VLT3", "url": "https://www.uniprot.org/uniprotkb/Q9VLT3" } ], "pmid": "" }, { "name": "head involution", "id": "GO:0008258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008258", "evidence": [ { "database": "UniProtKB", "id": "Q9VLT3", "url": "https://www.uniprot.org/uniprotkb/Q9VLT3" } ], "pmid": "" }, { "name": "septate junction assembly", "id": "GO:0019991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019991", "evidence": [ { "database": "UniProtKB", "id": "Q9VLT3", "url": 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"database": "UniProtKB", "id": "Q9VLW9", "url": "https://www.uniprot.org/uniprotkb/Q9VLW9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VLX3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLX3", "url": "https://www.uniprot.org/uniprotkb/Q9VLX3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 281, "chemical_mass": 31713.0, "gene_names": "Dmel\\CG7164;CG7164;Dmel\\CG7164;Dmel_CG7164", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VLX3-1", "start_pos": "88", "end_pos": "88", "site_lbl": "Thr88", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 88, "start_aa": "Thr", "end_pos": 88, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr88", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VLY3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLY3", "url": "https://www.uniprot.org/uniprotkb/Q9VLY3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 594, "chemical_mass": 68306.0, "gene_names": "Dmel\\CG13795;CG13795;CT33284;Dmel\\CG13795;Dmel_CG13795", "protein_name": "", "disease": [ { "disease_id": "DOID:9268", "name": "glycine encephalopathy", "description": "An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues.", "url": "https://disease-ontology.org/term/DOID:9268", "evidence": [ { "id": "9268", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9268" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "neurotransmitter transmembrane transporter activity", "id": "GO:0005326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005326", "evidence": [ { "database": "UniProtKB", "id": "Q9VLY3", "url": "https://www.uniprot.org/uniprotkb/Q9VLY3" } ], "pmid": "" }, { "name": "neurotransmitter:sodium symporter activity", "id": "GO:0005328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005328", "evidence": [ { "database": "UniProtKB", "id": "Q9VLY3", "url": "https://www.uniprot.org/uniprotkb/Q9VLY3" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9VLY3", "url": 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"attached", "comment": "", "icn3d_view": {}, "start_pos": 268, "start_aa": "Thr", "end_pos": 268, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr268", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VM10-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VM10", "url": "https://www.uniprot.org/uniprotkb/Q9VM10" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 563, "chemical_mass": 62907.0, "gene_names": "santa-maria;BEST:CK01577;CG12789;CK01577;Dmel\\CG12789;Dmel_CG12789;Santa Maria;santa maria;santa-maria", "protein_name": "", "disease": [ { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least 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This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. 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:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:10003", "name": "sensorineural hearing loss", "description": "An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem.", "url": "https://disease-ontology.org/term/DOID:10003", "evidence": [ { "id": "10003", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10003" } ], "weight": 0.0 }, { "disease_id": "DOID:11981", "name": "morbid obesity", "description": "", "url": "https://disease-ontology.org/term/DOID:11981", "evidence": [ { "id": "11981", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11981" } ], "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 } ], "molecular_function": [ { "name": "scavenger receptor activity", "id": "GO:0005044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005044", "evidence": [ { "database": "UniProtKB", "id": "Q9VM10", "url": "https://www.uniprot.org/uniprotkb/Q9VM10" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": 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"molecular_function": [ { "name": "phosphatidylinositol bisphosphate binding", "id": "GO:1902936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902936", "evidence": [ { "database": "UniProtKB", "id": "Q9VM11", "url": "https://www.uniprot.org/uniprotkb/Q9VM11" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VM20-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VM20", "url": "https://www.uniprot.org/uniprotkb/Q9VM20" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 328, "chemical_mass": 36948.0, "gene_names": "Dmel\\CG5160;CG5160;Dmel\\CG5160;Dmel_CG5160", "protein_name": "small monomeric GTPase", "disease": [], "molecular_function": [ { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q9VM20", "url": "https://www.uniprot.org/uniprotkb/Q9VM20" } ], "pmid": "" }, { "name": "G protein activity", "id": "GO:0003925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003925", "evidence": [ { "database": "UniProtKB", "id": "Q9VM20", "url": "https://www.uniprot.org/uniprotkb/Q9VM20" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VM36-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VM36", "url": "https://www.uniprot.org/uniprotkb/Q9VM36" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 506, "chemical_mass": 53658.0, "gene_names": "Dmel\\CG4497;CG4497;Dmel\\CG4497;Dmel_CG4497", "protein_name": "Protein FAM122A", "disease": [], "molecular_function": [ { "name": "protein serine/threonine phosphatase inhibitor activity", "id": "GO:0004865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004865", "evidence": [ { "database": "UniProtKB", "id": "Q9VM36", "url": "https://www.uniprot.org/uniprotkb/Q9VM36" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VM36", "url": "https://www.uniprot.org/uniprotkb/Q9VM36" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VM36", "url": "https://www.uniprot.org/uniprotkb/Q9VM36" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032436", "evidence": [ { "database": "UniProtKB", "id": "Q9VM36", "url": "https://www.uniprot.org/uniprotkb/Q9VM36" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VM58-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VM58", "url": "https://www.uniprot.org/uniprotkb/Q9VM58" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 323, "chemical_mass": 34173.0, "gene_names": "Hmgcl;145934_at;CG10399;Dmel\\CG10399;Dmel_CG10399;HMGCL;Hmgcl", "protein_name": "hydroxymethylglutaryl-CoA lyase", "disease": [ { "disease_id": "DOID:0070541", "name": "3-hydroxy-3-methylglutaryl-CoA lyase deficiency", "description": "An amino acid metabolic disorder characterized by metabolic acidosis without ketonuria, hypoglycemia, and a characteristic pattern of elevated urinary organic acid metabolites, including 3-hydroxy-3-methylglutaric, 3-methylglutaric, and 3-hydroxyisovaleric acids that 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catabolic process", "id": "GO:0009159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009159", "evidence": [ { "database": "UniProtKB", "id": "Q9VMB3", "url": "https://www.uniprot.org/uniprotkb/Q9VMB3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VMB5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VMB5", "url": "https://www.uniprot.org/uniprotkb/Q9VMB5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 315, "chemical_mass": 36329.0, "gene_names": "FBXO16;CG13766;Dmel\\CG13766;Dmel_CG13766;FBXO16", "protein_name": "F-box domain-containing protein", "disease": [], "cellular_component": [ { "name": "SCF ubiquitin ligase complex", "id": "GO:0019005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019005", "evidence": [ { "database": "UniProtKB", 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} ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9VMB9", "url": "https://www.uniprot.org/uniprotkb/Q9VMB9" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q9VMB9", "url": "https://www.uniprot.org/uniprotkb/Q9VMB9" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q9VMB9", "url": "https://www.uniprot.org/uniprotkb/Q9VMB9" } ], "pmid": "" }, { "name": "respiratory chain complex IV", "id": "GO:0045277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045277", "evidence": [ { "database": "UniProtKB", "id": "Q9VMB9", "url": "https://www.uniprot.org/uniprotkb/Q9VMB9" } ], "pmid": "" } ], 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"end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr150", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VMF9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VMF9", "url": "https://www.uniprot.org/uniprotkb/Q9VMF9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 253, "chemical_mass": 28367.0, "gene_names": "Dmel\\CG13983;CG13983;Dmel\\CG13983;Dmel_CG13983", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VMG1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VMG1", "url": "https://www.uniprot.org/uniprotkb/Q9VMG1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 537, "chemical_mass": 59869.0, "gene_names": "Ugt37B1;AC 005285A;CG9481;DmeUgt37b1;Dmel\\CG9481;Dmel_CG9481;UGT37B1;Ugt37B1;Ugt37b1", "protein_name": "", "disease": [], "molecular_function": [ { "name": "UDP-glycosyltransferase activity", "id": "GO:0008194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008194", "evidence": [ { "database": "UniProtKB", "id": "Q9VMG1", "url": "https://www.uniprot.org/uniprotkb/Q9VMG1" } ], "pmid": "" } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VMG1", "url": "https://www.uniprot.org/uniprotkb/Q9VMG1" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9VMG1", "url": 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"record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VMI9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VMI9", "url": "https://www.uniprot.org/uniprotkb/Q9VMI9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 619, "chemical_mass": 69815.0, "gene_names": "mtm;CG9115;Dmel\\CG9115;Dmel_CG9115;MTM1/R1/R2;MTM1;Mtm;R2;dMTMH1;mtm1;mtm", "protein_name": "phosphatidylinositol-3,5-bisphosphate 3-phosphatase", "disease": [ { "disease_id": "DOID:0110191", "name": "Charcot-Marie-Tooth disease type 4B1", "description": "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding the myotubularin-related protein-2 (MTMR2).", "url": "https://disease-ontology.org/term/DOID:0110191", "evidence": [ { "id": "0110191", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110191" } ], "weight": 0.0 }, { "disease_id": "DOID:0111225", "name": "centronuclear myopathy X-linked", "description": "A centronuclear myopathy that has_material_basis_in X-linked inheritance of mutations in MTM1 on Xq28.", "url": "https://disease-ontology.org/term/DOID:0111225", "evidence": [ { "id": "0111225", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111225" } ], "weight": 0.0 }, { "disease_id": "DOID:10595", "name": "Charcot-Marie-Tooth disease", "description": "A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm.", "url": "https://disease-ontology.org/term/DOID:10595", "evidence": [ { "id": "10595", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10595" } ], "weight": 0.0 }, { "disease_id": "DOID:14717", "name": "centronuclear myopathy", "description": "A congenital structural myopathy characterized by abnormally located nuclei in skeletal muscle cells. 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], "biological_process": [ { "name": "mitotic cell cycle", "id": "GO:0000278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000278", "evidence": [ { "database": "UniProtKB", "id": "Q9VMI9", "url": "https://www.uniprot.org/uniprotkb/Q9VMI9" } ], "pmid": "" }, { "name": "chromosome segregation", "id": "GO:0007059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007059", "evidence": [ { "database": "UniProtKB", "id": "Q9VMI9", "url": "https://www.uniprot.org/uniprotkb/Q9VMI9" } ], "pmid": "" }, { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "Q9VMI9", "url": "https://www.uniprot.org/uniprotkb/Q9VMI9" } ], "pmid": "" }, { "name": "cortical actin cytoskeleton organization", "id": "GO:0030866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030866", "evidence": [ { "database": "UniProtKB", "id": "Q9VMI9", "url": "https://www.uniprot.org/uniprotkb/Q9VMI9" } ], "pmid": "" }, { "name": 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actomyosin structure organization", "id": "GO:0110020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110020", "evidence": [ { "database": "UniProtKB", "id": "Q9VMI9", "url": "https://www.uniprot.org/uniprotkb/Q9VMI9" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VMI9", "url": "https://www.uniprot.org/uniprotkb/Q9VMI9" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q9VMI9", "url": "https://www.uniprot.org/uniprotkb/Q9VMI9" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VMI9", "url": "https://www.uniprot.org/uniprotkb/Q9VMI9" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q9VMI9", "url": "https://www.uniprot.org/uniprotkb/Q9VMI9" } ], "pmid": "" } ], "molecular_function": [ { "name": "phosphoprotein phosphatase activity", "id": "GO:0004721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004721", "evidence": [ { "database": "UniProtKB", "id": "Q9VMI9", "url": "https://www.uniprot.org/uniprotkb/Q9VMI9" } ], "pmid": "" }, { "name": "protein tyrosine/serine/threonine phosphatase activity", "id": "GO:0008138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008138", "evidence": [ { "database": "UniProtKB", "id": "Q9VMI9", "url": "https://www.uniprot.org/uniprotkb/Q9VMI9" } ], "pmid": "" }, { "name": "phosphatidylinositol-3-phosphate phosphatase activity", "id": "GO:0004438", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004438", "evidence": [ { "database": "UniProtKB", "id": "Q9VMI9", "url": "https://www.uniprot.org/uniprotkb/Q9VMI9" } ], "pmid": "" }, { "name": "phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity", "id": "GO:0052629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052629", "evidence": [ { "database": "UniProtKB", "id": "Q9VMI9", "url": "https://www.uniprot.org/uniprotkb/Q9VMI9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VMK8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VMK8", "url": "https://www.uniprot.org/uniprotkb/Q9VMK8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 165, "chemical_mass": 19086.0, "gene_names": "Dmel\\CG13999;CG13999;Dmel\\CG13999;Dmel_CG13999", "protein_name": "Transmembrane protein 138", "disease": [ { "disease_id": "DOID:0110985", "name": "Joubert syndrome 16", "description": "A Joubert syndrome characterized by molar tooth sign on brain 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"UniProtKB", "id": "Q9VMK8", "url": "https://www.uniprot.org/uniprotkb/Q9VMK8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VMM9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VMM9", "url": "https://www.uniprot.org/uniprotkb/Q9VMM9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 711, "chemical_mass": 79685.0, "gene_names": "Dmel\\CG11147;CG11147;DmCG11147;Dmel\\CG11147;Dmel_CG11147", "protein_name": "", "disease": [], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9VMM9", "url": "https://www.uniprot.org/uniprotkb/Q9VMM9" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q9VMM9", "url": "https://www.uniprot.org/uniprotkb/Q9VMM9" } ], "pmid": "" }, { "name": "ABC-type transporter activity", "id": "GO:0140359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140359", "evidence": [ { "database": "UniProtKB", "id": "Q9VMM9", "url": "https://www.uniprot.org/uniprotkb/Q9VMM9" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VMM9", "url": "https://www.uniprot.org/uniprotkb/Q9VMM9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VMN1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VMN1", "url": "https://www.uniprot.org/uniprotkb/Q9VMN1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 493, "chemical_mass": 57098.0, "gene_names": "Dmel\\CG11149;CG11149;Dmel\\CG11149;Dmel_CG11149;dibeta3GnT4", "protein_name": "", "disease": [], "cellular_component": [ { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9VMN1", "url": "https://www.uniprot.org/uniprotkb/Q9VMN1" } ], "pmid": "" } ], "molecular_function": [ { "name": "glucuronosyltransferase activity", "id": "GO:0015020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015020", "evidence": [ { "database": "UniProtKB", "id": "Q9VMN1", "url": "https://www.uniprot.org/uniprotkb/Q9VMN1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VMP0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VMP0", "url": "https://www.uniprot.org/uniprotkb/Q9VMP0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 486, "chemical_mass": 54994.0, "gene_names": "anon-WO0140519.54;CG18266;Dmel\\CG18266;Dmel_CG18266;anon-WO0140519.54", "protein_name": "Coiled-coil domain-containing protein", "disease": [ { "disease_id": "DOID:0111910", "name": "spermatogenic failure", "description": "A male infertility characterized by disruption of the process of sperm development from diploid cells into mature haploid spermatozoa.", "url": "https://disease-ontology.org/term/DOID:0111910", "evidence": [ { "id": "0111910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111910" } ], "weight": 0.0 } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VMP4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VMP4", "url": "https://www.uniprot.org/uniprotkb/Q9VMP4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 907, "chemical_mass": 104444.0, "gene_names": "GluRIIA;CG6992;D-GluRIIA;DGluR-IIA;DGluR-II;DGluR2a;DGluRIIA;DGluRIIa;DgluRII;DmelGluRIIA;Dmel\\CG6992;Dmel_CG6992;Glu-RIIA;Glu-RII;GluR-IIA;GluR2a;GluR2;GluRII-A;GluRIIA;GluRIIa;GluRII;GluR[[IIa]];GluR;GlurIIA;dGluRIIA;dGluRII;dglur-IIA;dglurIIA;gluIIA;gluRIIA;glurIIA;gluriia", "protein_name": "", "disease": [], "molecular_function": [ { "name": "glutamate-gated calcium ion channel activity", "id": "GO:0022849", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022849", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP4", "url": "https://www.uniprot.org/uniprotkb/Q9VMP4" } ], "pmid": "" }, { "name": "glutamate-gated receptor activity", "id": "GO:0004970", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004970", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP4", "url": "https://www.uniprot.org/uniprotkb/Q9VMP4" } ], "pmid": "" }, { "name": "transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential", "id": "GO:1904315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904315", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP4", "url": "https://www.uniprot.org/uniprotkb/Q9VMP4" } ], "pmid": "" }, { "name": "glutamate receptor activity", "id": "GO:0008066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008066", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP4", "url": "https://www.uniprot.org/uniprotkb/Q9VMP4" } ], "pmid": "" } ], "cellular_component": [ { "name": "ionotropic glutamate receptor complex", "id": "GO:0008328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008328", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP4", "url": "https://www.uniprot.org/uniprotkb/Q9VMP4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP4", "url": "https://www.uniprot.org/uniprotkb/Q9VMP4" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP4", "url": "https://www.uniprot.org/uniprotkb/Q9VMP4" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP4", "url": "https://www.uniprot.org/uniprotkb/Q9VMP4" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP4", "url": "https://www.uniprot.org/uniprotkb/Q9VMP4" } ], "pmid": "" }, { "name": "muscle cell postsynaptic specialization", "id": "GO:0097482", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097482", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP4", "url": "https://www.uniprot.org/uniprotkb/Q9VMP4" } ], "pmid": "" } ], "biological_process": [ { "name": "neuromuscular synaptic transmission", "id": "GO:0007274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007274", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP4", "url": "https://www.uniprot.org/uniprotkb/Q9VMP4" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP4", "url": "https://www.uniprot.org/uniprotkb/Q9VMP4" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP4", "url": "https://www.uniprot.org/uniprotkb/Q9VMP4" } ], "pmid": "" }, { "name": "synaptic transmission, glutamatergic", "id": "GO:0035249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035249", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP4", "url": "https://www.uniprot.org/uniprotkb/Q9VMP4" } ], "pmid": "" }, { "name": "regulation of neurotransmitter secretion", "id": "GO:0046928", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046928", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP4", "url": "https://www.uniprot.org/uniprotkb/Q9VMP4" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP4", "url": "https://www.uniprot.org/uniprotkb/Q9VMP4" } ], "pmid": "" }, { "name": "synapse maturation", "id": "GO:0060074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060074", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP4", "url": "https://www.uniprot.org/uniprotkb/Q9VMP4" } ], "pmid": "" }, { "name": "regulation of synaptic activity", "id": "GO:0060025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060025", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP4", "url": "https://www.uniprot.org/uniprotkb/Q9VMP4" } ], "pmid": "" }, { "name": "positive regulation of neuromuscular synaptic transmission", "id": "GO:1900075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900075", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP4", "url": "https://www.uniprot.org/uniprotkb/Q9VMP4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VMR2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VMR2", "url": "https://www.uniprot.org/uniprotkb/Q9VMR2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 580, "chemical_mass": 62943.0, "gene_names": "mid;CG6634;Dmel\\CG6634;Dmel_CG6634;H15r/nmr2;H15r;H15;MID;Mid(H15);Mid;TBX20;extra;los;mid;nmr2", "protein_name": "", "disease": [ { "disease_id": "DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:0050700", "evidence": [ { "id": "0050700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050700" } ], "weight": 0.0 }, { "disease_id": "DOID:0110109", "name": "atrial heart septal defect 4", "description": "An atrial heart septal defect type 4 that has_material_basis_in mutation in the TBX20 gene.", "url": "https://disease-ontology.org/term/DOID:0110109", "evidence": [ { "id": "0110109", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110109" } ], "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:1657", "name": "ventricular septal defect", "description": "A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles.", "url": "https://disease-ontology.org/term/DOID:1657", "evidence": [ { "id": "1657", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1657" } ], "weight": 0.0 }, { "disease_id": "DOID:1682", "name": "congenital heart disease", "description": "A physical disorder that is characterized by problems with the heart's structure that are present at birth.", "url": "https://disease-ontology.org/term/DOID:1682", "evidence": [ { "id": "1682", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1682" } ], "weight": 0.0 }, { "disease_id": "DOID: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:6419", "name": "tetralogy of Fallot", "description": "", "url": "https://disease-ontology.org/term/DOID:6419", "evidence": [ { "id": "6419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6419" } ], "weight": 0.0 } ], "biological_process": [ { "name": "ganglion mother cell fate determination", "id": "GO:0007402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007402", "evidence": [ { "database": "UniProtKB", "id": "Q9VMR2", "url": "https://www.uniprot.org/uniprotkb/Q9VMR2" } ], "pmid": "" }, { "name": "cell fate 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003015", "evidence": [ { "database": "UniProtKB", "id": "Q9VMR2", "url": "https://www.uniprot.org/uniprotkb/Q9VMR2" } ], "pmid": "" }, { "name": "neuroblast fate specification", "id": "GO:0014018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014018", "evidence": [ { "database": "UniProtKB", "id": "Q9VMR2", "url": "https://www.uniprot.org/uniprotkb/Q9VMR2" } ], "pmid": "" }, { "name": "neuroblast development", "id": "GO:0014019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014019", "evidence": [ { "database": "UniProtKB", "id": "Q9VMR2", "url": "https://www.uniprot.org/uniprotkb/Q9VMR2" } ], "pmid": "" }, { "name": "chorion-containing eggshell pattern formation", "id": "GO:0030381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030381", "evidence": [ { "database": "UniProtKB", "id": "Q9VMR2", "url": "https://www.uniprot.org/uniprotkb/Q9VMR2" } ], "pmid": "" }, { "name": "leg disc pattern formation", "id": "GO:0035223", "url": 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"biological_process": [ { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "Q9VPE9", "url": "https://www.uniprot.org/uniprotkb/Q9VPE9" } ], "pmid": "" }, { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "Q9VPE9", "url": "https://www.uniprot.org/uniprotkb/Q9VPE9" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "Q9VPE9", "url": "https://www.uniprot.org/uniprotkb/Q9VPE9" } ], "pmid": "" }, { "name": "triglyceride homeostasis", "id": "GO:0070328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070328", "evidence": [ { "database": "UniProtKB", "id": "Q9VPE9", "url": "https://www.uniprot.org/uniprotkb/Q9VPE9" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q9VPE9", "url": "https://www.uniprot.org/uniprotkb/Q9VPE9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VPF6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VPF6", "url": "https://www.uniprot.org/uniprotkb/Q9VPF6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 286, "chemical_mass": 32634.0, "gene_names": "mRpL15;CG5219;Dmel\\CG5219;Dmel_CG5219;L15;l(3)77CDc;mRpL15", "protein_name": "Large ribosomal subunit protein uL15m", "disease": [ { "disease_id": "DOID:11198", "name": "DiGeorge syndrome", "description": "A syndrome that has_material_basis_in a large deletion 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"https://www.ebi.ac.uk/QuickGO/term/GO:0032543", "evidence": [ { "database": "UniProtKB", "id": "Q9VPF6", "url": "https://www.uniprot.org/uniprotkb/Q9VPF6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VPF6-1", "start_pos": "7", "end_pos": "7", "site_lbl": "Thr7", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 7, "start_aa": "Thr", "end_pos": 7, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr7", "evidence": [ { "id": "40245499", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40245499" }, { "id": "Q9VPF6", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9VPF6" } ] } ] }, { "uniprot_canonical_ac": "Q9VPF6-1", "start_pos": "8", "end_pos": "8", "site_lbl": "Ser8", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 8, "start_aa": "Ser", "end_pos": 8, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser8", "evidence": [ { "id": "40245499", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40245499" }, { "id": "Q9VPF6", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9VPF6" } ] } ] } ], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VPI9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VPI9", "url": "https://www.uniprot.org/uniprotkb/Q9VPI9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 2064, "chemical_mass": 234706.0, "gene_names": "Zir;CG11376;Dm zir;Dmel\\CG11376;Dmel_CG11376;FBgn 31216;Zir;anon-EST:Posey54", "protein_name": "", "disease": [ { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID:0060227", "name": "Adams-Oliver syndrome", "description": "A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs.", "url": "https://disease-ontology.org/term/DOID:0060227", "evidence": [ { "id": "0060227", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060227" } ], "weight": 0.0 }, { "disease_id": "DOID:0080415", "name": "developmental and epileptic encephalopathy 23", "description": "A developmental and epileptic encephalopathy characterized by onset in the first months of life of intractable seizures, severely impaired psychomotor development with poor or absent speech, cortical blindness, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK7 gene on chromosome 1p31.", "url": "https://disease-ontology.org/term/DOID:0080415", "evidence": [ { "id": "0080415", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080415" } ], "weight": 0.0 }, { "disease_id": "DOID:0080594", "name": "hyper IgE recurrent infection syndrome 2", "description": "A hyper IgE syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK8 gene on chromosome 9p24.", "url": "https://disease-ontology.org/term/DOID:0080594", "evidence": [ { "id": "0080594", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080594" } ], "weight": 0.0 }, { "disease_id": "DOID:0090110", "name": "immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome", "description": "An autoimmune disease that is characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has_material_basis_in X-linked recessive mutation in the forkhead box P3 (FOXP3) gene on chromosome Xp11.", "url": "https://disease-ontology.org/term/DOID:0090110", "evidence": [ { "id": "0090110", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090110" } ], "weight": 0.0 }, { "disease_id": "DOID:104", "name": "bacterial infectious disease", "description": "A disease by infectious agent that results_in infection, has_material_basis_in Bacteria.", "url": "https://disease-ontology.org/term/DOID:104", "evidence": [ { "id": "104", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:104" } ], "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" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID:2223", "name": "platelet storage pool deficiency", "description": "", "url": "https://disease-ontology.org/term/DOID:2223", "evidence": [ { "id": "2223", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2223" } ], "weight": 0.0 }, { "disease_id": "DOID:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], 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"id": "Q9VPI9", "url": "https://www.uniprot.org/uniprotkb/Q9VPI9" } ], "pmid": "" } ], "molecular_function": [ { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "Q9VPI9", "url": "https://www.uniprot.org/uniprotkb/Q9VPI9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VPI9-1", "start_pos": "1108", "end_pos": "1108", "site_lbl": "Thr1108", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1108, "start_aa": "Thr", "end_pos": 1108, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1108", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VPM0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VPM0", "url": "https://www.uniprot.org/uniprotkb/Q9VPM0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 297, "chemical_mass": 33498.0, "gene_names": "Rpp30;#19/1;1;CG11606;Dmel\\CG11606;Dmel_CG11606;RNase P;Rpp1;Rpp30;coconut;l(2)k01901", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleolar ribonuclease P complex", "id": "GO:0005655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005655", "evidence": [ { "database": "UniProtKB", "id": "Q9VPM0", "url": "https://www.uniprot.org/uniprotkb/Q9VPM0" } ], "pmid": "" }, { "name": "multimeric ribonuclease P complex", "id": "GO:0030681", "url": 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"uniprot_canonical_ac": "Q9VPN3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VPN3", "url": "https://www.uniprot.org/uniprotkb/Q9VPN3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 125, "chemical_mass": 13677.0, "gene_names": "Dmel\\CG11562;BcDNA:RE44650;CG11562;Dmel\\CG11562;Dmel_CG11562", "protein_name": "Protein PET117 homolog, mitochondrial", "disease": [ { "disease_id": "DOID:0070504", "name": "mitochondrial complex IV deficiency nuclear type 19", "description": "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET117 gene on chromosome 20p11.23.", "url": "https://disease-ontology.org/term/DOID:0070504", "evidence": [ { "id": "0070504", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070504" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9VPN3", "url": "https://www.uniprot.org/uniprotkb/Q9VPN3" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial respiratory chain complex IV assembly", "id": "GO:0033617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033617", "evidence": [ { "database": "UniProtKB", "id": "Q9VPN3", "url": "https://www.uniprot.org/uniprotkb/Q9VPN3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VPP8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VPP8", "url": "https://www.uniprot.org/uniprotkb/Q9VPP8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 193, "chemical_mass": 21691.0, "gene_names": 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"Q9VPT2-1", "start_pos": "538", "end_pos": "538", "site_lbl": "Thr538", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 538, "start_aa": "Thr", "end_pos": 538, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr538", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VPT3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VPT3", "url": "https://www.uniprot.org/uniprotkb/Q9VPT3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], 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"evidence": [ { "database": "UniProtKB", "id": "Q9VPT3", "url": "https://www.uniprot.org/uniprotkb/Q9VPT3" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VPT3", "url": "https://www.uniprot.org/uniprotkb/Q9VPT3" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9VPT3", "url": "https://www.uniprot.org/uniprotkb/Q9VPT3" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q9VPT3", "url": "https://www.uniprot.org/uniprotkb/Q9VPT3" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial large ribosomal subunit assembly", "id": "GO:1902775", "url": 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characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ95", "url": "https://www.uniprot.org/uniprotkb/Q9VQ95" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ95", "url": "https://www.uniprot.org/uniprotkb/Q9VQ95" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ95", "url": "https://www.uniprot.org/uniprotkb/Q9VQ95" } ], "pmid": "" }, { "name": "nucleic acid binding", "id": "GO:0003676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ95", "url": "https://www.uniprot.org/uniprotkb/Q9VQ95" } ], "pmid": "" }, { "name": "RNA endonuclease activity", "id": "GO:0004521", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004521", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ95", "url": "https://www.uniprot.org/uniprotkb/Q9VQ95" } ], "pmid": "" }, { "name": "single-stranded DNA endodeoxyribonuclease activity", "id": "GO:0000014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000014", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ95", "url": "https://www.uniprot.org/uniprotkb/Q9VQ95" } ], "pmid": "" } ], "biological_process": [ { "name": "apoptotic DNA fragmentation", "id": "GO:0006309", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006309", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ95", "url": "https://www.uniprot.org/uniprotkb/Q9VQ95" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VQB6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQB6", "url": "https://www.uniprot.org/uniprotkb/Q9VQB6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 971, "chemical_mass": 104206.0, "gene_names": "Atxn7;Ataxin7;Atxn7;CG9866;Dmel\\CG9866;ataxin-7;dATXN7", "protein_name": "Ataxin-7", "disease": [ { "disease_id": "DOID:0050958", "name": "spinocerebellar ataxia 7", "description": "An autosomal dominant cerebellar ataxia that is characterized by ataxia, progressive vision loss, and failure to thrive, has_material_basis_in mutation in the ATXN7 gene.", "url": "https://disease-ontology.org/term/DOID:0050958", "evidence": [ { "id": "0050958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050958" } ], "weight": 0.0 }, { "disease_id": "DOID:1289", "name": "neurodegenerative disease", "description": "A central nervous system disease that results in the progressive deterioration of function or structure of neurons.", "url": "https://disease-ontology.org/term/DOID:1289", "evidence": [ { "id": "1289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1289" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "SAGA-type complex", "id": "GO:0070461", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070461", "evidence": [ { "database": "UniProtKB", "id": "Q9VQB6", "url": "https://www.uniprot.org/uniprotkb/Q9VQB6" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VQB6", "url": "https://www.uniprot.org/uniprotkb/Q9VQB6" } ], "pmid": "" }, { "name": "SAGA complex", "id": "GO:0000124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000124", "evidence": [ { "database": "UniProtKB", "id": "Q9VQB6", "url": "https://www.uniprot.org/uniprotkb/Q9VQB6" } ], "pmid": "" }, { "name": "polytene chromosome", "id": "GO:0005700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005700", "evidence": [ { "database": "UniProtKB", "id": "Q9VQB6", "url": "https://www.uniprot.org/uniprotkb/Q9VQB6" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9VQB6", "url": "https://www.uniprot.org/uniprotkb/Q9VQB6" } ], "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": "Q9VQB6", "url": "https://www.uniprot.org/uniprotkb/Q9VQB6" } ], "pmid": "" }, { "name": "SAGA complex assembly", "id": "GO:0036285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036285", "evidence": [ { "database": "UniProtKB", "id": "Q9VQB6", "url": "https://www.uniprot.org/uniprotkb/Q9VQB6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VQC2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQC2", "url": "https://www.uniprot.org/uniprotkb/Q9VQC2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 369, "chemical_mass": 41108.0, "gene_names": "Dmel\\CG18641;CG11535;CG18641;Dmel\\CG18641;Dmel_CG18641", "protein_name": "Lipase domain-containing protein", "disease": [ { "disease_id": "DOID:0070658", "name": "alcohol-associated liver disease", "description": "A liver disease resulting from excessive alcohol intake.", "url": "https://disease-ontology.org/term/DOID:0070658", "evidence": [ { "id": "0070658", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070658" } ], "weight": 0.0 }, { "disease_id": "DOID:0080000", "name": "muscular disease", "description": "A musculoskeletal system disease that affects the muscles.", "url": 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functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1168", "name": "familial hyperlipidemia", "description": "A lipid metabolism disease that is characterized by elevated levels of lipids in the blood.", "url": "https://disease-ontology.org/term/DOID:1168", "evidence": [ { "id": "1168", "database": 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"familial combined hyperlipidemia", "description": "", "url": "https://disease-ontology.org/term/DOID:13809", "evidence": [ { "id": "13809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13809" } ], "weight": 0.0 }, { "disease_id": "DOID:14118", "name": "familial lipoprotein lipase deficiency", "description": "A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides.", "url": "https://disease-ontology.org/term/DOID:14118", "evidence": [ { "id": "14118", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14118" } ], "weight": 0.0 }, { "disease_id": "DOID:14221", "name": "abdominal obesity-metabolic syndrome 1", "description": "An abdominal obesity-metabolic syndrome characterized by insulin resistance and hyperinsulinemia, dyslipidemia, essential hypertension, abdominal obesity, glucose intolerance or noninsulin-dependent diabetes mellitus and an increased risk of cardiovascular events.", "url": "https://disease-ontology.org/term/DOID:14221", "evidence": [ { "id": "14221", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14221" } ], "weight": 0.0 }, { "disease_id": "DOID:2018", "name": "hyperinsulinism", "description": "", "url": "https://disease-ontology.org/term/DOID:2018", "evidence": [ { "id": "2018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2018" } ], "weight": 0.0 }, { "disease_id": "DOID: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:341", "name": "peripheral vascular disease", "description": "A vascular disease that is characterized by obstruction of vessels not within the coronary, aortic arch vasculature, or brain.", "url": "https://disease-ontology.org/term/DOID:341", "evidence": [ { "id": "341", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:341" } ], "weight": 0.0 }, { "disease_id": "DOID:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "weight": 0.0 }, { "disease_id": "DOID:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney.", "url": 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melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQD8", "url": "https://www.uniprot.org/uniprotkb/Q9VQD8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 151, "chemical_mass": 16669.0, "gene_names": "Arpc5;ARPC5;ArpC5;Arpc5;CG9881;Dmel\\CG9881;Dmel_CG9881;P16-ARC;p16-ARC;p16-arc;p16", "protein_name": "Actin-related protein 2/3 complex subunit 5", "disease": [ { "disease_id": "DOID:0050328", "name": "congenital hypothyroidism", "description": "A hypothyroidism that is present at birth.", "url": "https://disease-ontology.org/term/DOID:0050328", "evidence": [ { "id": "0050328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050328" } ], "weight": 0.0 }, { "disease_id": "DOID:0051056", "name": "immunodeficiency 113", "description": "A primary immunodeficiency disease that is characterized by recurrent infections and usually show features of autoimmunity and autoinflammation, such as hemolytic anemia, thrombocytopenia, hepatosplenomegaly, leukocytosis, neutrophilia, and elevated acute phase reactants, and that has_material_basis_in homozygous mutation in the ARPC5 gene on chromosome 1q25.", "url": "https://disease-ontology.org/term/DOID:0051056", "evidence": [ { "id": "0051056", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051056" } ], "weight": 0.0 }, { "disease_id": "DOID:1508", "name": "candidiasis", "description": "An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. Systemic Candida infections are usually confined to severely immunocompromised persons.", "url": "https://disease-ontology.org/term/DOID:1508", "evidence": [ { "id": "1508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1508" } ], "weight": 0.0 }, { "disease_id": "DOID:3907", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell.", "url": "https://disease-ontology.org/term/DOID:3907", "evidence": [ { "id": "3907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3907" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "molecular_function": [ { "name": "structural constituent of cytoskeleton", "id": "GO:0005200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005200", "evidence": [ { "database": "UniProtKB", "id": "Q9VQD8", "url": "https://www.uniprot.org/uniprotkb/Q9VQD8" } ], "pmid": "" }, { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "Q9VQD8", "url": "https://www.uniprot.org/uniprotkb/Q9VQD8" } ], "pmid": "" } ], "cellular_component": [ { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q9VQD8", "url": "https://www.uniprot.org/uniprotkb/Q9VQD8" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "Q9VQD8", "url": "https://www.uniprot.org/uniprotkb/Q9VQD8" } ], "pmid": "" }, { "name": "cortical cytoskeleton", "id": "GO:0030863", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030863", "evidence": [ { "database": "UniProtKB", "id": "Q9VQD8", "url": "https://www.uniprot.org/uniprotkb/Q9VQD8" } ], "pmid": "" }, { "name": "Arp2/3 protein complex", "id": "GO:0005885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005885", "evidence": [ { "database": "UniProtKB", "id": "Q9VQD8", "url": "https://www.uniprot.org/uniprotkb/Q9VQD8" } ], "pmid": "" } ], "biological_process": [ { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q9VQD8", "url": "https://www.uniprot.org/uniprotkb/Q9VQD8" } ], "pmid": "" }, { "name": "Arp2/3 complex-mediated actin nucleation", "id": "GO:0034314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034314", "evidence": [ { "database": "UniProtKB", "id": "Q9VQD8", "url": "https://www.uniprot.org/uniprotkb/Q9VQD8" } ], "pmid": "" }, { "name": "regulation of actin filament polymerization", "id": "GO:0030833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030833", "evidence": [ { "database": "UniProtKB", "id": "Q9VQD8", "url": "https://www.uniprot.org/uniprotkb/Q9VQD8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VQE0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQE0", "url": "https://www.uniprot.org/uniprotkb/Q9VQE0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 735, "chemical_mass": 82566.0, "gene_names": "Drp1;CG3210;DNM1L;DRP1;DRP;Dmel\\CG3210;Dmel_CG3210;Dnm1/Drp1;Drp-1;Drp1;Drp;drp-1;drp1;drp;frat;l(2)22Fc;l(2)22Fd;l(2)ND2;l(2)ND3", "protein_name": "dynamin GTPase", "disease": [ { "disease_id": "DOID:0070347", "name": "encephalopathy due to defective mitochondrial and peroxisomal fission 1", "description": "A syndrome that has_material_basis_in heterozygous mutation in the DNM1L gene, and is characterized by delayed psychomotor development and has_symptom hypotonia that may lead to death in childhood.", "url": "https://disease-ontology.org/term/DOID:0070347", "evidence": [ { "id": "0070347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070347" } ], "weight": 0.0 }, { "disease_id": "DOID:0110197", "name": "Charcot-Marie-Tooth disease dominant intermediate B", "description": "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in mutation in the gene encoding dynamin-2 (DNM2).", "url": "https://disease-ontology.org/term/DOID:0110197", "evidence": [ { "id": "0110197", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110197" } ], "weight": 0.0 }, { "disease_id": "DOID:0111223", "name": "centronuclear myopathy 1", "description": "An autosomal dominant centronuclear myopathy characterized by slowly progressive muscle wasting and weakness involving mainly the limb girdle, trunk, and neck muscles that has_material_basis_in heterozygous mutation in DNM2 on 19p13.2.", "url": "https://disease-ontology.org/term/DOID:0111223", "evidence": [ { "id": "0111223", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111223" } ], "weight": 0.0 }, { "disease_id": "DOID:0111438", "name": "optic atrophy 5", "description": "An optic atrophy characterized by degeneration of retinal ganglion cells resulting in slowly progressive visual loss with variable onset from the first to third decades that has_material_basis_in heterozygous of mutation in DNM1L on chromosome 12p11.21.", "url": "https://disease-ontology.org/term/DOID:0111438", "evidence": [ { "id": "0111438", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111438" } ], "weight": 0.0 }, { "disease_id": "DOID:0112202", "name": "developmental and epileptic encephalopathy", "description": "An electroclinical syndrome characterized by epileptiform activity and at least one other pathology that together contribute to cognitive and behavioral impairments including developmental delay or regression with onset anywhere from birth to adulthood.", "url": "https://disease-ontology.org/term/DOID:0112202", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:11252", "name": "microcytic anemia", "description": "An anemia that is characterized by a low normal mean corpuscular volume (MCV) (less than 80 fL) and is defined by the presence of small, often hypochromic, red blood cells in a peripheral blood smear.", "url": "https://disease-ontology.org/term/DOID:11252", "evidence": [ { "id": "11252", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11252" } ], "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:13711", "name": "dental fluorosis", "description": "A tooth disease characterized by enamel discoloration resulting from excess fluoride ingestion during tooth formation.", "url": "https://disease-ontology.org/term/DOID:13711", "evidence": [ { "id": "13711", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13711" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:2476", "name": "hereditary spastic paraplegia", "description": "A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs.", "url": "https://disease-ontology.org/term/DOID:2476", "evidence": [ { "id": "2476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2476" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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 } ], "biological_process": [ { "name": "sperm mitochondrion organization", "id": "GO:0030382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030382", "evidence": [ { "database": "UniProtKB", "id": "Q9VQE0", "url": "https://www.uniprot.org/uniprotkb/Q9VQE0" } ], "pmid": "" }, { "name": "regulation of mitochondrial fission", "id": "GO:0090140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090140", "evidence": [ { "database": "UniProtKB", "id": "Q9VQE0", "url": "https://www.uniprot.org/uniprotkb/Q9VQE0" } ], "pmid": "" }, { "name": "peroxisome fission", "id": "GO:0016559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016559", "evidence": [ { "database": "UniProtKB", "id": "Q9VQE0", "url": "https://www.uniprot.org/uniprotkb/Q9VQE0" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q9VQE0", "url": "https://www.uniprot.org/uniprotkb/Q9VQE0" } ], "pmid": "" }, { "name": "mitochondrion localization", "id": "GO:0051646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051646", "evidence": [ { "database": "UniProtKB", "id": "Q9VQE0", "url": "https://www.uniprot.org/uniprotkb/Q9VQE0" } ], "pmid": "" }, { "name": "mitochondrial fission", "id": "GO:0000266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000266", "evidence": [ { "database": "UniProtKB", "id": "Q9VQE0", "url": "https://www.uniprot.org/uniprotkb/Q9VQE0" } ], "pmid": "" }, { "name": "intracellular distribution of mitochondria", "id": "GO:0048312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048312", "evidence": [ { "database": "UniProtKB", "id": "Q9VQE0", "url": "https://www.uniprot.org/uniprotkb/Q9VQE0" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial fission", "id": "GO:0090141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090141", "evidence": [ { "database": "UniProtKB", "id": "Q9VQE0", "url": "https://www.uniprot.org/uniprotkb/Q9VQE0" } ], "pmid": "" }, { "name": "lymph gland crystal cell differentiation", "id": "GO:0035170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035170", "evidence": [ { "database": "UniProtKB", "id": "Q9VQE0", "url": "https://www.uniprot.org/uniprotkb/Q9VQE0" } ], "pmid": "" }, { "name": "ventral furrow formation", "id": "GO:0007370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007370", "evidence": [ { "database": "UniProtKB", "id": "Q9VQE0", "url": "https://www.uniprot.org/uniprotkb/Q9VQE0" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q9VQE0", "url": "https://www.uniprot.org/uniprotkb/Q9VQE0" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q9VQE0", "url": "https://www.uniprot.org/uniprotkb/Q9VQE0" } ], "pmid": "" }, { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q9VQE0", "url": "https://www.uniprot.org/uniprotkb/Q9VQE0" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "Q9VQE0", "url": "https://www.uniprot.org/uniprotkb/Q9VQE0" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VQE0", "url": "https://www.uniprot.org/uniprotkb/Q9VQE0" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9VQE0", "url": "https://www.uniprot.org/uniprotkb/Q9VQE0" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q9VQE0", "url": "https://www.uniprot.org/uniprotkb/Q9VQE0" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9VQE0", "url": "https://www.uniprot.org/uniprotkb/Q9VQE0" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q9VQE0", "url": "https://www.uniprot.org/uniprotkb/Q9VQE0" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VQE0", "url": "https://www.uniprot.org/uniprotkb/Q9VQE0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VQE3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQE3", "url": "https://www.uniprot.org/uniprotkb/Q9VQE3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 319, "chemical_mass": 37156.0, "gene_names": "Dmel\\CG9962;CG9962;Dmel\\CG9962;Dmel_CG9962", "protein_name": "non-specific serine/threonine protein kinase", "disease": [], "molecular_function": [ { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q9VQE3", "url": "https://www.uniprot.org/uniprotkb/Q9VQE3" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9VQE3", "url": "https://www.uniprot.org/uniprotkb/Q9VQE3" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VQE3", "url": "https://www.uniprot.org/uniprotkb/Q9VQE3" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VQE3", "url": "https://www.uniprot.org/uniprotkb/Q9VQE3" } ], "pmid": "" } ], "biological_process": [ { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q9VQE3", "url": "https://www.uniprot.org/uniprotkb/Q9VQE3" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q9VQE3", "url": "https://www.uniprot.org/uniprotkb/Q9VQE3" } ], "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": "Q9VQE3", "url": "https://www.uniprot.org/uniprotkb/Q9VQE3" } ], "pmid": "" }, { "name": "positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032436", "evidence": [ { "database": "UniProtKB", "id": "Q9VQE3", "url": "https://www.uniprot.org/uniprotkb/Q9VQE3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VQI1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQI1", "url": "https://www.uniprot.org/uniprotkb/Q9VQI1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 321, "chemical_mass": 33984.0, "gene_names": "Dmel\\CG3104;CG3104;Dmel\\CG3104;Dmel_CG3104", "protein_name": "Ankyrin repeat domain-containing protein 29", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VQI1", "url": "https://www.uniprot.org/uniprotkb/Q9VQI1" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VQI1", "url": "https://www.uniprot.org/uniprotkb/Q9VQI1" } ], "pmid": "" } ], "molecular_function": [ { "name": "cytoskeletal anchor activity", "id": "GO:0008093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008093", "evidence": [ { "database": "UniProtKB", "id": "Q9VQI1", "url": "https://www.uniprot.org/uniprotkb/Q9VQI1" } ], "pmid": "" } ], "biological_process": [ { "name": "endoplasmic reticulum to Golgi vesicle-mediated transport", "id": "GO:0006888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006888", "evidence": [ { "database": "UniProtKB", "id": "Q9VQI1", "url": "https://www.uniprot.org/uniprotkb/Q9VQI1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VQJ8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQJ8", "url": "https://www.uniprot.org/uniprotkb/Q9VQJ8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 219, "chemical_mass": 24738.0, "gene_names": "Dmel\\CG9643;CG9643;Dmel\\CG9643;Dmel_CG9643;METTL10", "protein_name": "Protein-lysine N-methyltransferase CG9643", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VQJ8", "url": "https://www.uniprot.org/uniprotkb/Q9VQJ8" } ], "pmid": "" } ], "biological_process": [ { "name": "methylation", "id": "GO:0032259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032259", "evidence": [ { "database": "UniProtKB", "id": "Q9VQJ8", "url": "https://www.uniprot.org/uniprotkb/Q9VQJ8" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein-lysine N-methyltransferase activity", "id": "GO:0016279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016279", "evidence": [ { "database": "UniProtKB", "id": "Q9VQJ8", "url": "https://www.uniprot.org/uniprotkb/Q9VQJ8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VQK7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQK7", "url": "https://www.uniprot.org/uniprotkb/Q9VQK7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 749, "chemical_mass": 84781.0, "gene_names": "Sf3b2;CG3605;Dmel\\CG3605;Dmel_CG3605;SF3B2;Sf3b2", "protein_name": "", "disease": [ { "disease_id": "DOID:2907", "name": "Goldenhar syndrome", "description": "A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch.", "url": "https://disease-ontology.org/term/DOID:2907", "evidence": [ { "id": "2907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2907" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q9VQK7", "url": "https://www.uniprot.org/uniprotkb/Q9VQK7" } ], "pmid": "" } ], "biological_process": [ { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "Q9VQK7", "url": "https://www.uniprot.org/uniprotkb/Q9VQK7" } ], "pmid": "" } ], "cellular_component": [ { "name": "catalytic step 2 spliceosome", "id": "GO:0071013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071013", "evidence": [ { "database": "UniProtKB", "id": "Q9VQK7", "url": "https://www.uniprot.org/uniprotkb/Q9VQK7" } ], "pmid": "" }, { "name": "U2 snRNP", "id": "GO:0005686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005686", "evidence": [ { "database": "UniProtKB", "id": "Q9VQK7", "url": "https://www.uniprot.org/uniprotkb/Q9VQK7" } ], "pmid": "" }, { "name": "precatalytic spliceosome", "id": "GO:0071011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071011", "evidence": [ { "database": "UniProtKB", "id": "Q9VQK7", "url": "https://www.uniprot.org/uniprotkb/Q9VQK7" } ], "pmid": "" }, { "name": "U12-type spliceosomal complex", "id": "GO:0005689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005689", "evidence": [ { "database": "UniProtKB", "id": "Q9VQK7", "url": "https://www.uniprot.org/uniprotkb/Q9VQK7" } ], "pmid": "" }, { "name": "U2-type spliceosomal complex", "id": "GO:0005684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005684", "evidence": [ { "database": "UniProtKB", "id": "Q9VQK7", "url": "https://www.uniprot.org/uniprotkb/Q9VQK7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VQQ3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ3", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 138, "chemical_mass": 15791.0, "gene_names": "Dmel\\CG8840;CG8840;Dmel\\CG8840;Dmel_CG8840", "protein_name": "BLOC-1-related complex subunit 7", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VQQ4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ4", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 181, "chemical_mass": 16678.0, "gene_names": "CG15413;BcDNA:AT14709;CG15413;CG31952;Dmel\\CG31952;Dmel_CG31952", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VQQ5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ5", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 416, "chemical_mass": 46306.0, "gene_names": "Dmel\\CG2772;BcDNA:RE45077;CG2772;Dmel\\CG2772;Dmel_CG2772", "protein_name": "Lipase", "disease": [ { "disease_id": "DOID:0080217", "name": "lysosomal acid lipase deficiency", "description": "A lipid storage disease characterized by dyslipidemia and accumulation of cholesteryl esters and triglycerides within various organs that has_material_basis_in homozygous or compound heterozygous mutation in the LIPA gene on chromosome 10q23.31.", "url": "https://disease-ontology.org/term/DOID:0080217", "evidence": [ { "id": "0080217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080217" } ], "weight": 0.0 }, { "disease_id": "DOID:14497", "name": "Wolman disease", "description": "A lysosomal acid lipase deficiency characterized by infantile onset of rapidly progressive accumulation of cholesteryl esters and triglycerides throughout the body, resulting in hepatosplenomegaly, severe malnutrition, jaundice, vomiting, diarrhea, steatorrhea. Death usually occurs within the first year of life.", "url": "https://disease-ontology.org/term/DOID:14497", "evidence": [ { "id": "14497", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14497" } ], "weight": 0.0 } ], "biological_process": [ { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ5", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ5" } ], "pmid": "" }, { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ5", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ5" } ], "pmid": "" } ], "molecular_function": [ { "name": "lipase activity", "id": "GO:0016298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016298", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ5", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ5" } ], "pmid": "" }, { "name": "triacylglycerol lipase activity", "id": "GO:0004806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004806", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ5", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VQR2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQR2", "url": "https://www.uniprot.org/uniprotkb/Q9VQR2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 159, "chemical_mass": 18918.0, "gene_names": "ND-PDSW;BcDNA:RE65754;CG8844;Dmel\\CG8844;Dmel_CG8844;ND-PDSW;NDUFB10;NIDM;PDSW;Pdsw;Q9VQR2;anon-EST:Posey91;dNDUFB10;l(2)k10101;mito;pdsw", "protein_name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 10", "disease": [ { "disease_id": "DOID:0112139", "name": "nuclear type mitochondrial complex I deficiency 35", "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB10 gene on chromosome 16p13.3.", "url": "https://disease-ontology.org/term/DOID:0112139", "evidence": [ { "id": "0112139", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112139" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9VQR2", "url": "https://www.uniprot.org/uniprotkb/Q9VQR2" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q9VQR2", "url": "https://www.uniprot.org/uniprotkb/Q9VQR2" } ], "pmid": "" }, { "name": "respiratory chain complex I", "id": "GO:0045271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045271", "evidence": [ { "database": "UniProtKB", "id": "Q9VQR2", "url": "https://www.uniprot.org/uniprotkb/Q9VQR2" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial electron transport, NADH to ubiquinone", "id": "GO:0006120", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006120", "evidence": [ { "database": "UniProtKB", "id": "Q9VQR2", "url": "https://www.uniprot.org/uniprotkb/Q9VQR2" } ], "pmid": "" }, { "name": "proton transmembrane transport", "id": "GO:1902600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902600", "evidence": [ { "database": "UniProtKB", "id": "Q9VQR2", "url": "https://www.uniprot.org/uniprotkb/Q9VQR2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VQS0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQS0", "url": "https://www.uniprot.org/uniprotkb/Q9VQS0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 676, "chemical_mass": 76420.0, "gene_names": "bs30c03.y1;CG3213;Dmel\\CG3213;Dmel_CG3213;FBgn0031545;bs30c03.y1", "protein_name": "", "disease": [], "cellular_component": [ { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q9VQS0", "url": "https://www.uniprot.org/uniprotkb/Q9VQS0" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of cilium assembly", "id": "GO:1902017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902017", "evidence": [ { "database": "UniProtKB", "id": "Q9VQS0", "url": "https://www.uniprot.org/uniprotkb/Q9VQS0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VQT6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQT6", "url": "https://www.uniprot.org/uniprotkb/Q9VQT6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 88, "chemical_mass": 9491.0, "gene_names": "Dmel\\CG3513;CG3513;Dmel\\CG3513;Dmel_CG3513", "protein_name": "BPTI/Kunitz inhibitor domain-containing protein", "disease": [], "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": "Q9VQT6", "url": "https://www.uniprot.org/uniprotkb/Q9VQT6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VQU4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQU4", "url": "https://www.uniprot.org/uniprotkb/Q9VQU4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 282, "chemical_mass": 32320.0, "gene_names": "lectin-24A;AC 005149A;AC005149a;CG3410;Dmel\\CG3410;Dmel_CG3410;Lectin-24A;lectin-24A", "protein_name": "", "disease": [ { "disease_id": "DOID:0050127", "name": "sinusitis", "description": "A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip.", "url": "https://disease-ontology.org/term/DOID:0050127", "evidence": [ { "id": "0050127", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050127" } ], "weight": 0.0 }, { "disease_id": "DOID:0050598", "name": "extrapulmonary tuberculosis", "description": "A tuberculosis that occurs at body sites other than the lung.", "url": "https://disease-ontology.org/term/DOID:0050598", "evidence": [ { "id": "0050598", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050598" } ], "weight": 0.0 }, { "disease_id": "DOID:0050827", "name": "rheumatic heart disease", "description": "A heart valve disease that is characterized by repeated inflammation with fibrinous repair caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords.", "url": "https://disease-ontology.org/term/DOID:0050827", "evidence": [ { "id": "0050827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050827" } ], "weight": 0.0 }, { "disease_id": "DOID:0060071", "name": "pre-malignant neoplasm", "description": "A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer.", "url": "https://disease-ontology.org/term/DOID:0060071", "evidence": [ { "id": "0060071", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060071" } ], "weight": 0.0 }, { "disease_id": "DOID:0080599", "name": "Coronavirus infectious disease", "description": "A viral infectious disease that has_material_basis_in Coronavirus.", "url": "https://disease-ontology.org/term/DOID:0080599", "evidence": [ { "id": "0080599", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080599" } ], "weight": 0.0 }, { "disease_id": "DOID:11335", "name": "sarcoidosis", "description": "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.", "url": "https://disease-ontology.org/term/DOID:11335", "evidence": [ { "id": "11335", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11335" } ], "weight": 0.0 }, { "disease_id": "DOID:11394", "name": "adult respiratory distress syndrome", "description": "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia.", "url": "https://disease-ontology.org/term/DOID:11394", "evidence": [ { "id": "11394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11394" } ], "weight": 0.0 }, { "disease_id": "DOID:11650", "name": "bronchopulmonary dysplasia", "description": "A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.", "url": "https://disease-ontology.org/term/DOID:11650", "evidence": [ { "id": "11650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ], "weight": 0.0 }, { "disease_id": "DOID:12120", "name": "pulmonary alveolar proteinosis", "description": "A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange.", "url": "https://disease-ontology.org/term/DOID:12120", "evidence": [ { "id": "12120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12120" } ], "weight": 0.0 }, { "disease_id": "DOID:12205", "name": "dengue disease", "description": "A viral infectious disease that results in infection, has_material_basis_in Dengue virus (Orthoflavivirus denguei), which are transmitted by Aedes mosquito bite. The infection has symptom fever, has symptom severe headache, has symptom severe pain behind the eyes, has symptom joint pain, has symptom muscle and bone pain, has symptom rash, and has symptom mild bleeding.", "url": "https://disease-ontology.org/term/DOID:12205", "evidence": [ { "id": "12205", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12205" } ], "weight": 0.0 }, { "disease_id": "DOID:12206", "name": "dengue hemorrhagic fever", "description": "A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus (Orthoflavivirus denguei) serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever. Four distinct Dengue virus serotypes have been identified.", "url": "https://disease-ontology.org/term/DOID:12206", "evidence": [ { "id": "12206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12206" } ], "weight": 0.0 }, { "disease_id": "DOID:12716", "name": "newborn respiratory distress syndrome", "description": "A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts.", "url": "https://disease-ontology.org/term/DOID:12716", "evidence": [ { "id": "12716", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12716" } ], "weight": 0.0 }, { "disease_id": "DOID:1273", "name": "respiratory syncytial virus infectious disease", "description": "A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus (Orthopneumovirus hominis), which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress.", "url": "https://disease-ontology.org/term/DOID:1273", "evidence": [ { "id": "1273", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1273" } ], "weight": 0.0 }, { "disease_id": "DOID:13564", "name": "aspergillosis", "description": "An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system.", "url": "https://disease-ontology.org/term/DOID:13564", "evidence": [ { "id": "13564", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13564" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:2799", "name": "bronchiolitis obliterans", "description": "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults.", "url": "https://disease-ontology.org/term/DOID:2799", "evidence": [ { "id": "2799", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2799" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:3082", "name": "interstitial lung disease", "description": "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough.", "url": "https://disease-ontology.org/term/DOID:3082", "evidence": [ { "id": "3082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3082" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:399", "name": "tuberculosis", "description": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.", "url": "https://disease-ontology.org/term/DOID:399", "evidence": [ { "id": "399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:399" } ], "weight": 0.0 }, { "disease_id": "DOID:4483", "name": "rhinitis", "description": "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.", "url": "https://disease-ontology.org/term/DOID:4483", "evidence": [ { "id": "4483", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4483" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID:635", "name": "acquired immunodeficiency syndrome", "description": "A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS.", "url": "https://disease-ontology.org/term/DOID:635", "evidence": [ { "id": "635", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:635" } ], "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:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:874", "name": "bacterial pneumonia", "description": "A pneumonia involving inflammation of the lungs caused by bacteria.", "url": "https://disease-ontology.org/term/DOID:874", "evidence": [ { "id": "874", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:874" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9VQU4", "url": "https://www.uniprot.org/uniprotkb/Q9VQU4" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q9VQU4", "url": "https://www.uniprot.org/uniprotkb/Q9VQU4" } ], "pmid": "" } ], "biological_process": [ { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q9VQU4", "url": "https://www.uniprot.org/uniprotkb/Q9VQU4" } ], "pmid": "" }, { "name": "calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules", "id": "GO:0016339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016339", "evidence": [ { "database": "UniProtKB", "id": "Q9VQU4", "url": "https://www.uniprot.org/uniprotkb/Q9VQU4" } ], "pmid": "" }, { "name": "induction of bacterial agglutination", "id": "GO:0043152", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043152", "evidence": [ { "database": "UniProtKB", "id": "Q9VQU4", "url": "https://www.uniprot.org/uniprotkb/Q9VQU4" } ], "pmid": "" } ], "molecular_function": [ { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "Q9VQU4", "url": "https://www.uniprot.org/uniprotkb/Q9VQU4" } ], "pmid": "" }, { "name": "pattern recognition receptor activity", "id": "GO:0038187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038187", "evidence": [ { "database": "UniProtKB", "id": "Q9VQU4", "url": "https://www.uniprot.org/uniprotkb/Q9VQU4" } ], "pmid": "" }, { "name": "galactose binding", "id": "GO:0005534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005534", "evidence": [ { "database": "UniProtKB", "id": "Q9VQU4", "url": "https://www.uniprot.org/uniprotkb/Q9VQU4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VQW4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQW4", "url": "https://www.uniprot.org/uniprotkb/Q9VQW4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 104, "chemical_mass": 11979.0, "gene_names": "Dmel\\CG15422;CG15422;Dmel\\CG15422;Dmel_CG15422", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VQW5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQW5", "url": "https://www.uniprot.org/uniprotkb/Q9VQW5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 107, "chemical_mass": 12275.0, "gene_names": "Dmel\\CG15423;CG15423;Dmel\\CG15423;Dmel_CG15423", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VQX3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQX3", "url": "https://www.uniprot.org/uniprotkb/Q9VQX3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 359, "chemical_mass": 41546.0, "gene_names": "lectin-24Db;AC 004371A;AC004371a;CG2958;Dmel\\CG2958;Dmel_CG2958;Lectin 24Db;lectin-24Db", "protein_name": "", "disease": [ { "disease_id": "DOID:0050598", "name": "extrapulmonary tuberculosis", "description": "A tuberculosis that occurs at body sites other than the lung.", "url": "https://disease-ontology.org/term/DOID:0050598", "evidence": [ { "id": "0050598", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050598" } ], "weight": 0.0 }, { "disease_id": "DOID:2945", "name": "severe acute respiratory syndrome", "description": "A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Severe acute respiratory syndrome coronavirus (SARS-CoV or SARS-CoV-1), a subtype of Betacoronavirus pandemicum, which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "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 } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9VQX3", "url": "https://www.uniprot.org/uniprotkb/Q9VQX3" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q9VQX3", "url": "https://www.uniprot.org/uniprotkb/Q9VQX3" } ], "pmid": "" } ], "biological_process": [ { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q9VQX3", "url": "https://www.uniprot.org/uniprotkb/Q9VQX3" } ], "pmid": "" } ], "molecular_function": [ { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "Q9VQX3", "url": "https://www.uniprot.org/uniprotkb/Q9VQX3" } ], "pmid": "" }, { "name": "D-mannose binding", "id": "GO:0005537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005537", "evidence": [ { "database": "UniProtKB", "id": "Q9VQX3", "url": "https://www.uniprot.org/uniprotkb/Q9VQX3" } ], "pmid": "" }, { "name": "fucose binding", "id": "GO:0042806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042806", "evidence": [ { "database": "UniProtKB", "id": "Q9VQX3", "url": "https://www.uniprot.org/uniprotkb/Q9VQX3" } ], "pmid": "" }, { "name": "pattern recognition receptor activity", "id": "GO:0038187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038187", "evidence": [ { "database": "UniProtKB", "id": "Q9VQX3", "url": "https://www.uniprot.org/uniprotkb/Q9VQX3" } ], "pmid": "" }, { "name": "glycosylated region protein binding", "id": "GO:0140081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140081", "evidence": [ { "database": "UniProtKB", "id": "Q9VQX3", "url": "https://www.uniprot.org/uniprotkb/Q9VQX3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VR05-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VR05", "url": "https://www.uniprot.org/uniprotkb/Q9VR05" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 346, "chemical_mass": 40502.0, "gene_names": "Paris;CG15436;Dmel\\CG15436;Paris;dPARIS", "protein_name": "Zinc finger protein Paris", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9VR05", "url": "https://www.uniprot.org/uniprotkb/Q9VR05" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q9VR05", "url": "https://www.uniprot.org/uniprotkb/Q9VR05" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9VR05", "url": "https://www.uniprot.org/uniprotkb/Q9VR05" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q9VR05", "url": "https://www.uniprot.org/uniprotkb/Q9VR05" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "Q9VR05", "url": "https://www.uniprot.org/uniprotkb/Q9VR05" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VR05", "url": "https://www.uniprot.org/uniprotkb/Q9VR05" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9VR05", "url": "https://www.uniprot.org/uniprotkb/Q9VR05" } ], "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": "Q9VR05", "url": "https://www.uniprot.org/uniprotkb/Q9VR05" } ], "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": "Q9VR05", "url": "https://www.uniprot.org/uniprotkb/Q9VR05" } ], "pmid": "" }, { "name": "negative regulation of mitochondrial fission", "id": "GO:0090258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090258", "evidence": [ { "database": "UniProtKB", "id": "Q9VR05", "url": "https://www.uniprot.org/uniprotkb/Q9VR05" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VR20-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VR20", "url": "https://www.uniprot.org/uniprotkb/Q9VR20" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 495, "chemical_mass": 57417.0, "gene_names": "CG3251;Dmel\\CG3251", "protein_name": "OTU domain-containing protein CG3251", "disease": [], "biological_process": [ { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q9VR20", "url": "https://www.uniprot.org/uniprotkb/Q9VR20" } ], "pmid": "" }, { "name": "regulation of signal transduction", "id": "GO:0009966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009966", "evidence": [ { "database": "UniProtKB", "id": "Q9VR20", "url": "https://www.uniprot.org/uniprotkb/Q9VR20" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q9VR20", 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"reference_species": "Drosophila melanogaster [7227]" } ], "length": 603, "chemical_mass": 69278.0, "gene_names": "Dmel\\CG3008;CG3008;Dmel\\CG3008;Dmel_CG3008", "protein_name": "Serine/threonine-protein kinase RIO3", "disease": [], "molecular_function": [ { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "Q9VR42", "url": "https://www.uniprot.org/uniprotkb/Q9VR42" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q9VR42", "url": "https://www.uniprot.org/uniprotkb/Q9VR42" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9VR42", "url": "https://www.uniprot.org/uniprotkb/Q9VR42" } ], "pmid": "" }, { "name": "metal ion 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"batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VR69-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VR69", "url": "https://www.uniprot.org/uniprotkb/Q9VR69" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 486, "chemical_mass": 55417.0, "gene_names": "Cda4;BcDNA:RE51076;CG12447;CG13238;CG32499;CG9557;CG9558;Cda4;DmCDA4;Dmel\\CG32499;Dmel_CG32499", "protein_name": "", "disease": [], "molecular_function": [ { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q9VR69", "url": "https://www.uniprot.org/uniprotkb/Q9VR69" } ], "pmid": "" }, { "name": "chitin binding", "id": "GO:0008061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008061", "evidence": [ { "database": "UniProtKB", "id": "Q9VR69", "url": 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"https://www.uniprot.org/uniprotkb/Q9VR79" } ], "pmid": "" }, { "name": "regulation of tube size, open tracheal system", "id": "GO:0035151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035151", "evidence": [ { "database": "UniProtKB", "id": "Q9VR79", "url": "https://www.uniprot.org/uniprotkb/Q9VR79" } ], "pmid": "" }, { "name": "chitin-based cuticle development", "id": "GO:0040003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040003", "evidence": [ { "database": "UniProtKB", "id": "Q9VR79", "url": "https://www.uniprot.org/uniprotkb/Q9VR79" } ], "pmid": "" } ], "molecular_function": [ { "name": "chitin binding", "id": "GO:0008061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008061", "evidence": [ { "database": "UniProtKB", "id": "Q9VR79", "url": "https://www.uniprot.org/uniprotkb/Q9VR79" } ], "pmid": "" }, { "name": "structural constituent of chitin-based cuticle", "id": "GO:0005214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005214", "evidence": [ { "database": 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"batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VRA5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRA5", "url": "https://www.uniprot.org/uniprotkb/Q9VRA5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 58, "chemical_mass": 6643.0, "gene_names": "Dmel\\CG15461;CG15461;Dmel\\CG15461;Dmel_CG15461", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VRG3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRG3", "url": "https://www.uniprot.org/uniprotkb/Q9VRG3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1695, "chemical_mass": 194190.0, "gene_names": "Dmel\\CG1494;CG1494;DmCG1494;Dmel\\CG1494;Dmel_CG1494", "protein_name": "ABC transporter domain-containing protein", "disease": [], "molecular_function": [ { "name": "lipid transporter activity", "id": "GO:0005319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005319", "evidence": [ { "database": "UniProtKB", "id": "Q9VRG3", "url": "https://www.uniprot.org/uniprotkb/Q9VRG3" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9VRG3", "url": "https://www.uniprot.org/uniprotkb/Q9VRG3" } ], "pmid": "" }, { "name": "ATPase-coupled transmembrane transporter activity", "id": "GO:0042626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042626", "evidence": [ { "database": "UniProtKB", "id": "Q9VRG3", "url": "https://www.uniprot.org/uniprotkb/Q9VRG3" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q9VRG3", "url": "https://www.uniprot.org/uniprotkb/Q9VRG3" } ], "pmid": "" }, { "name": "ABC-type transporter activity", "id": "GO:0140359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140359", "evidence": [ { "database": "UniProtKB", "id": "Q9VRG3", "url": "https://www.uniprot.org/uniprotkb/Q9VRG3" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid transport", "id": "GO:0006869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006869", "evidence": [ { "database": "UniProtKB", "id": "Q9VRG3", "url": "https://www.uniprot.org/uniprotkb/Q9VRG3" } ], "pmid": "" } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VRG3", "url": "https://www.uniprot.org/uniprotkb/Q9VRG3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VRI1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRI1", "url": "https://www.uniprot.org/uniprotkb/Q9VRI1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 85, "chemical_mass": 8360.0, "gene_names": "whe;BcDNA:GH04760;CG1678;Dmel\\CG1678;Dmel_CG1678;whe", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VRL0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRL0", "url": "https://www.uniprot.org/uniprotkb/Q9VRL0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 307, "chemical_mass": 33764.0, "gene_names": "Cyt-c1;CG4769;CY1;Cyc1;Cyt-c1;Dmel\\CG4769;Dmel_CG4769;anon-EST:Posey141", "protein_name": "Cytochrome c1, heme protein, mitochondrial", "disease": [ { "disease_id": "DOID:0080115", "name": "mitochondrial complex III deficiency nuclear type 6", "description": "A mitochondrial complex III deficiency characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection and that has_material_basis_in homozygous mutation in the CYC1 gene on chromosome 8q24.", "url": "https://disease-ontology.org/term/DOID:0080115", "evidence": [ { "id": "0080115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080115" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9VRL0", "url": "https://www.uniprot.org/uniprotkb/Q9VRL0" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q9VRL0", "url": "https://www.uniprot.org/uniprotkb/Q9VRL0" } ], "pmid": "" }, { "name": "respiratory chain complex III", "id": "GO:0045275", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045275", "evidence": [ { "database": "UniProtKB", "id": "Q9VRL0", "url": "https://www.uniprot.org/uniprotkb/Q9VRL0" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9VRL0", "url": "https://www.uniprot.org/uniprotkb/Q9VRL0" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q9VRL0", "url": "https://www.uniprot.org/uniprotkb/Q9VRL0" } ], "pmid": "" }, { "name": "quinol-cytochrome-c reductase activity", "id": "GO:0008121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008121", "evidence": [ { "database": "UniProtKB", "id": "Q9VRL0", "url": "https://www.uniprot.org/uniprotkb/Q9VRL0" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial electron transport, ubiquinol to cytochrome c", "id": "GO:0006122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006122", "evidence": [ { "database": "UniProtKB", "id": "Q9VRL0", "url": "https://www.uniprot.org/uniprotkb/Q9VRL0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VRL8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRL8", "url": "https://www.uniprot.org/uniprotkb/Q9VRL8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 324, "chemical_mass": 35625.0, "gene_names": "blanks;Blanks;CG10630;Dmel\\CG10630;Dmel_CG10630;blanks;lump", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VRL8", "url": "https://www.uniprot.org/uniprotkb/Q9VRL8" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VRL8", "url": "https://www.uniprot.org/uniprotkb/Q9VRL8" } ], "pmid": "" }, { "name": "RISC complex", "id": "GO:0016442", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016442", "evidence": [ { "database": "UniProtKB", "id": "Q9VRL8", "url": "https://www.uniprot.org/uniprotkb/Q9VRL8" } ], "pmid": "" }, { "name": "RISC-loading complex", "id": "GO:0070578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070578", "evidence": [ { "database": "UniProtKB", "id": "Q9VRL8", "url": "https://www.uniprot.org/uniprotkb/Q9VRL8" } ], "pmid": "" }, { "name": "heterochromatin", "id": "GO:0000792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000792", "evidence": [ { "database": "UniProtKB", "id": "Q9VRL8", "url": "https://www.uniprot.org/uniprotkb/Q9VRL8" } ], "pmid": "" } ], "molecular_function": [ { "name": "double-stranded RNA binding", "id": "GO:0003725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003725", "evidence": [ { "database": "UniProtKB", "id": "Q9VRL8", "url": "https://www.uniprot.org/uniprotkb/Q9VRL8" } ], "pmid": "" }, { "name": "siRNA binding", "id": "GO:0035197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035197", "evidence": [ { "database": "UniProtKB", "id": "Q9VRL8", "url": "https://www.uniprot.org/uniprotkb/Q9VRL8" } ], "pmid": "" } ], "biological_process": [ { "name": "regulatory ncRNA-mediated post-transcriptional gene silencing", "id": "GO:0035194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035194", "evidence": [ { "database": "UniProtKB", "id": "Q9VRL8", "url": "https://www.uniprot.org/uniprotkb/Q9VRL8" } ], "pmid": "" }, { "name": "siRNA processing", "id": "GO:0030422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030422", "evidence": [ { "database": "UniProtKB", "id": "Q9VRL8", "url": "https://www.uniprot.org/uniprotkb/Q9VRL8" } ], "pmid": "" }, { "name": "sperm individualization", "id": "GO:0007291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007291", "evidence": [ { "database": "UniProtKB", "id": "Q9VRL8", "url": "https://www.uniprot.org/uniprotkb/Q9VRL8" } ], "pmid": "" }, { "name": "regulation of regulatory ncRNA processing", "id": "GO:0070920", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070920", "evidence": [ { "database": "UniProtKB", "id": "Q9VRL8", "url": "https://www.uniprot.org/uniprotkb/Q9VRL8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VRM8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRM8", "url": "https://www.uniprot.org/uniprotkb/Q9VRM8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 524, "chemical_mass": 58141.0, "gene_names": "Alp10;Alp10;CG10592;Dmel\\CG10592;Dmel_CG10592", "protein_name": "alkaline phosphatase", "disease": [ { "disease_id": "DOID:0050589", "name": "inflammatory bowel disease", "description": "An intestinal disease characterized by inflammation located in all parts of digestive tract.", "url": "https://disease-ontology.org/term/DOID:0050589", "evidence": [ { "id": "0050589", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050589" } ], "weight": 0.0 }, { "disease_id": "DOID:0110913", "name": "adult hypophosphatasia", "description": "A hypophosphatasia that has_material_basis_in a heterozygous or compound heterozygous mutation of the ALPL gene on chromosome 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"https://www.alliancegenome.org/disease/DOID:0110915" } ], "weight": 0.0 }, { "disease_id": "DOID:13809", "name": "familial combined hyperlipidemia", "description": "", "url": "https://disease-ontology.org/term/DOID:13809", "evidence": [ { "id": "13809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13809" } ], "weight": 0.0 }, { "disease_id": "DOID:14213", "name": "hypophosphatasia", "description": "A syndrome characterized by disruption of mineralization of bones and teeth that has_material_basis_in mutation in the ALPL gene on chromosome 1p36.12.", "url": "https://disease-ontology.org/term/DOID:14213", "evidence": [ { "id": "14213", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14213" } ], "weight": 0.0 }, { "disease_id": "DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0004035", "evidence": [ { "database": "UniProtKB", "id": "Q9VRM8", "url": "https://www.uniprot.org/uniprotkb/Q9VRM8" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9VRM8", "url": "https://www.uniprot.org/uniprotkb/Q9VRM8" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VRM8", "url": "https://www.uniprot.org/uniprotkb/Q9VRM8" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q9VRM8", "url": "https://www.uniprot.org/uniprotkb/Q9VRM8" } ], "pmid": "" }, { "name": "side of membrane", "id": "GO:0098552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098552", 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"mad2;CG17498;Dmel\\CG17498;Dmel_CG17498;MAD2;Mad2;mad2", "protein_name": "Mitotic spindle assembly checkpoint protein MAD2A", "disease": [ { "disease_id": "DOID:10907", "name": "microcephaly", "description": "A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants.", "url": "https://disease-ontology.org/term/DOID:10907", "evidence": [ { "id": "10907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10907" } ], "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 } ], "cellular_component": [ { "name": "kinetochore microtubule", "id": "GO:0005828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005828", "evidence": [ { "database": "UniProtKB", "id": "Q9VRQ2", "url": "https://www.uniprot.org/uniprotkb/Q9VRQ2" } ], "pmid": "" }, { "name": "spindle pole", "id": "GO:0000922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000922", "evidence": [ { "database": "UniProtKB", "id": "Q9VRQ2", "url": "https://www.uniprot.org/uniprotkb/Q9VRQ2" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VRQ2", "url": "https://www.uniprot.org/uniprotkb/Q9VRQ2" } ], "pmid": "" }, { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "Q9VRQ2", "url": "https://www.uniprot.org/uniprotkb/Q9VRQ2" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": 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"https://www.uniprot.org/uniprotkb/Q9VRQ2" } ], "pmid": "" }, { "name": "mitotic spindle assembly checkpoint signaling", "id": "GO:0007094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007094", "evidence": [ { "database": "UniProtKB", "id": "Q9VRQ2", "url": "https://www.uniprot.org/uniprotkb/Q9VRQ2" } ], "pmid": "" }, { "name": "regulation of mitotic cell cycle spindle assembly checkpoint", "id": "GO:0090266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090266", "evidence": [ { "database": "UniProtKB", "id": "Q9VRQ2", "url": "https://www.uniprot.org/uniprotkb/Q9VRQ2" } ], "pmid": "" }, { "name": "regulation of mitotic spindle assembly", "id": "GO:1901673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901673", "evidence": [ { "database": "UniProtKB", "id": "Q9VRQ2", "url": "https://www.uniprot.org/uniprotkb/Q9VRQ2" } ], "pmid": "" }, { "name": "chromosome organization", "id": "GO:0051276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051276", "evidence": [ { "database": "UniProtKB", "id": "Q9VRQ2", "url": "https://www.uniprot.org/uniprotkb/Q9VRQ2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VRQ4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRQ4", "url": "https://www.uniprot.org/uniprotkb/Q9VRQ4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 545, "chemical_mass": 60958.0, "gene_names": "Dmel\\CG5568;CG5568;Dmel\\CG5568;Dmel_CG5568", "protein_name": "Long-chain-fatty-acid--CoA ligase", "disease": [], "biological_process": [ { "name": "long-chain fatty acid metabolic process", "id": "GO:0001676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001676", "evidence": [ { "database": "UniProtKB", "id": "Q9VRQ4", "url": "https://www.uniprot.org/uniprotkb/Q9VRQ4" } ], "pmid": "" }, { "name": "fatty-acyl-CoA 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"id": "Q9VRS9", "url": "https://www.uniprot.org/uniprotkb/Q9VRS9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 262, "chemical_mass": 28511.0, "gene_names": "Jon65Ai;CG10475;CT29408;Dmel\\CG10475;Dmel_CG10475;Jon65Ai;Jon65A;Jon65;SP145", "protein_name": "trypsin", "disease": [], "molecular_function": [ { "name": "serine-type endopeptidase activity", "id": "GO:0004252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004252", "evidence": [ { "database": "UniProtKB", "id": "Q9VRS9", "url": "https://www.uniprot.org/uniprotkb/Q9VRS9" } ], "pmid": "" }, { "name": "serine hydrolase activity", "id": "GO:0017171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017171", "evidence": [ { "database": "UniProtKB", "id": "Q9VRS9", "url": "https://www.uniprot.org/uniprotkb/Q9VRS9" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VRS9", "url": "https://www.uniprot.org/uniprotkb/Q9VRS9" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q9VRS9", "url": "https://www.uniprot.org/uniprotkb/Q9VRS9" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q9VRS9", "url": "https://www.uniprot.org/uniprotkb/Q9VRS9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VRU8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRU8", "url": "https://www.uniprot.org/uniprotkb/Q9VRU8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 145, "chemical_mass": 15729.0, "gene_names": "Dmel\\CG13297;BcDNA:RE64858;CG13297;Dmel\\CG13297;Dmel_CG13297", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VRV0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRV0", "url": "https://www.uniprot.org/uniprotkb/Q9VRV0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 465, "chemical_mass": 50511.0, "gene_names": "Prdm13;CG13296;Dmel\\CG13296;Dmel_CG13296;PRDM13;Prdm13", "protein_name": "", "disease": [ { "disease_id": "DOID:0060264", "name": "pontocerebellar hypoplasia", "description": "A neurodegenerative disease that is characterized by underdevelopment of the pons and cerebellum.", "url": "https://disease-ontology.org/term/DOID:0060264", "evidence": [ { "id": "0060264", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060264" } ], "weight": 0.0 }, { "disease_id": "DOID:0070439", "name": "North Carolina macular dystrophy", "description": "A retinal macular dystrophy characterized by limited drusen, larger confluent drusen, or severe colobomatous-like chorioretinal atrophy in the central macular region present at birth that are nonprogressive that has_material_basis_in heterozygous mutation in a DNase I hypersensitivity site on chromosome 6q16 upstream of the PRDM13 gene.", "url": "https://disease-ontology.org/term/DOID:0070439", "evidence": [ { "id": "0070439", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070439" } ], "weight": 0.0 } ], "biological_process": [ { "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": "Q9VRV0", "url": "https://www.uniprot.org/uniprotkb/Q9VRV0" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q9VRV0", "url": "https://www.uniprot.org/uniprotkb/Q9VRV0" } ], "pmid": "" } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q9VRV0", "url": "https://www.uniprot.org/uniprotkb/Q9VRV0" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q9VRV0", "url": "https://www.uniprot.org/uniprotkb/Q9VRV0" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": 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fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 434, "chemical_mass": 48095.0, "gene_names": "Q9VS10;CG8641;Dmel\\CG8641;Dmel_CG8641;Q9VS10", "protein_name": "GTP-binding protein Rhes", "disease": [], "molecular_function": [ { "name": "G-protein beta-subunit binding", "id": "GO:0031681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031681", "evidence": [ { "database": "UniProtKB", "id": "Q9VS10", "url": "https://www.uniprot.org/uniprotkb/Q9VS10" } ], "pmid": "" }, { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q9VS10", "url": "https://www.uniprot.org/uniprotkb/Q9VS10" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q9VS10", "url": "https://www.uniprot.org/uniprotkb/Q9VS10" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VS10", "url": "https://www.uniprot.org/uniprotkb/Q9VS10" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q9VS10", "url": "https://www.uniprot.org/uniprotkb/Q9VS10" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VS21-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VS21", "url": "https://www.uniprot.org/uniprotkb/Q9VS21" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 82, "chemical_mass": 9695.0, "gene_names": "Acbp6;ACBP;Acbp6;CG15829;DmCG15829;Dmel\\CG15829;Dmel_CG15829", "protein_name": "", "disease": [], "biological_process": [ { "name": "fatty acid metabolic process", "id": "GO:0006631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006631", "evidence": [ { "database": "UniProtKB", "id": "Q9VS21", "url": "https://www.uniprot.org/uniprotkb/Q9VS21" } ], "pmid": "" } ], "molecular_function": [ { "name": "fatty-acyl-CoA binding", "id": "GO:0000062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000062", "evidence": [ { "database": "UniProtKB", "id": "Q9VS21", "url": "https://www.uniprot.org/uniprotkb/Q9VS21" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VS22-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VS22", "url": "https://www.uniprot.org/uniprotkb/Q9VS22" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 84, "chemical_mass": 9436.0, "gene_names": "Acbp3;ACBP;Acbp3;CG8628;DmCG8628;Dmel\\CG8628;Dmel_CG8628;anon-SAGE:Wang-073", "protein_name": "", "disease": [ { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:1287", "name": "cardiovascular system disease", "description": "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), 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"molecular_function": [ { "name": "fatty-acyl-CoA binding", "id": "GO:0000062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000062", "evidence": [ { "database": "UniProtKB", "id": "Q9VS22", "url": "https://www.uniprot.org/uniprotkb/Q9VS22" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VS39-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VS39", "url": "https://www.uniprot.org/uniprotkb/Q9VS39" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 323, "chemical_mass": 36256.0, "gene_names": "Dmel\\CG14830;CG14830;Dmel\\CG14830;Dmel_CG14830", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VS80-1", "species": [ { "name": "Drosophila 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"species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VSA9", "url": "https://www.uniprot.org/uniprotkb/Q9VSA9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 154, "chemical_mass": 17966.0, "gene_names": "Dmel\\CG7409;CG7409;CT16169;Dmel46.9;Dmel\\CG7409;Dmel_CG7409", "protein_name": "SHSP domain-containing protein", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VSA9", "url": "https://www.uniprot.org/uniprotkb/Q9VSA9" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VSA9", "url": "https://www.uniprot.org/uniprotkb/Q9VSA9" } ], "pmid": "" } ], "molecular_function": [ { "name": "unfolded 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"record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VSD3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VSD3", "url": "https://www.uniprot.org/uniprotkb/Q9VSD3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 218, "chemical_mass": 24591.0, "gene_names": "fan;CG7919;Dmel\\CG7919;Dmel_CG7919;FAN;dVAP-C;fan", "protein_name": "", "disease": [ { "disease_id": "DOID:0050752", "name": "amyotrophic lateral sclerosis type 8", "description": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VAPB gene on chromosome 20.", "url": "https://disease-ontology.org/term/DOID:0050752", "evidence": [ { "id": "0050752", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050752" } ], "weight": 0.0 }, { "disease_id": "DOID:0111194", "name": "autosomal dominant adult-onset proximal spinal muscular 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"GO:0043495", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043495", "evidence": [ { "database": "UniProtKB", "id": "Q9VSD3", "url": "https://www.uniprot.org/uniprotkb/Q9VSD3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VSD6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VSD6", "url": "https://www.uniprot.org/uniprotkb/Q9VSD6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1049, "chemical_mass": 119311.0, "gene_names": "msk;61;8;CG7935;CIP-61;DIM-7;Dim-7;Dim7;DmRanBP7;Dmel\\CG7935;Dmel_CG7935;Imp 7;Imp7/8;Imp7;Msk;S(ls)2;dim-7;dim7;msk", "protein_name": "", "disease": [], "molecular_function": [ { "name": "U4 snRNA binding", "id": "GO:0030621", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030621", "evidence": [ { "database": 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"https://www.uniprot.org/uniprotkb/Q9VSD6" } ], "pmid": "" } ], "biological_process": [ { "name": "compound eye development", "id": "GO:0048749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048749", "evidence": [ { "database": "UniProtKB", "id": "Q9VSD6", "url": "https://www.uniprot.org/uniprotkb/Q9VSD6" } ], "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": "Q9VSD6", "url": "https://www.uniprot.org/uniprotkb/Q9VSD6" } ], "pmid": "" }, { "name": "Cajal body organization", "id": "GO:0030576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030576", "evidence": [ { "database": "UniProtKB", "id": "Q9VSD6", "url": "https://www.uniprot.org/uniprotkb/Q9VSD6" } ], "pmid": "" }, { "name": "protein import into nucleus", "id": "GO:0006606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006606", "evidence": [ { "database": "UniProtKB", "id": 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"batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VSE2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VSE2", "url": "https://www.uniprot.org/uniprotkb/Q9VSE2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1051, "chemical_mass": 117332.0, "gene_names": "mus301;CG7972;Dmel\\CG7972;Mus301;SpnC;anon-WO0118547.354;cg7972;helq;mus(3)301;mus301;spn-C;spnC", "protein_name": "Helicase POLQ-like", "disease": [], "molecular_function": [ { "name": "single-stranded 3'-5' DNA helicase activity", "id": "GO:1990518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990518", "evidence": [ { "database": "UniProtKB", "id": "Q9VSE2", "url": "https://www.uniprot.org/uniprotkb/Q9VSE2" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": 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"sodium-dependent phosphate transport", "id": "GO:0044341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044341", "evidence": [ { "database": "UniProtKB", "id": "Q9VTG0", "url": "https://www.uniprot.org/uniprotkb/Q9VTG0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VTH8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VTH8", "url": "https://www.uniprot.org/uniprotkb/Q9VTH8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 428, "chemical_mass": 48535.0, "gene_names": "Dmel\\CG6163;CG6163;Dmel\\CG6163;Dmel_CG6163", "protein_name": "MADF domain-containing protein", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VTH8", "url": "https://www.uniprot.org/uniprotkb/Q9VTH8" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "Q9VTH8", "url": "https://www.uniprot.org/uniprotkb/Q9VTH8" } ], "pmid": "" } ], "biological_process": [ { "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": "Q9VTH8", "url": "https://www.uniprot.org/uniprotkb/Q9VTH8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VTI0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VTI0", "url": "https://www.uniprot.org/uniprotkb/Q9VTI0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 349, "chemical_mass": 39370.0, "gene_names": "Dmel\\CG7560;BEST:GH18008;CG7560;Dmel\\CG7560;Dmel_CG7560;gh18008", "protein_name": "Methylenetetrahydrofolate reductase-like catalytic domain-containing protein", "disease": [ { "disease_id": "DOID:0050589", "name": "inflammatory bowel disease", "description": "An intestinal disease characterized by inflammation located in all parts of digestive tract.", "url": "https://disease-ontology.org/term/DOID:0050589", "evidence": [ { "id": "0050589", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050589" } ], "weight": 0.0 }, { "disease_id": "DOID:0050745", "name": "diffuse large B-cell lymphoma", "description": "A large B-cell lymphoma that is consisting of medium-sized to large B cells with a diffuse growth pattern.", "url": "https://disease-ontology.org/term/DOID:0050745", "evidence": [ { "id": "0050745", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050745" } ], "weight": 0.0 }, { "disease_id": "DOID:0050830", "name": "peripheral artery disease", "description": "An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs.", "url": "https://disease-ontology.org/term/DOID:0050830", "evidence": [ { "id": "0050830", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050830" } ], "weight": 0.0 }, { "disease_id": "DOID:0050864", "name": "non-arteritic anterior ischemic optic neuropathy", "description": "An anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by acute ischemic damage to the optic nerve due to non-inflammatory small vessel disease.", "url": "https://disease-ontology.org/term/DOID:0050864", "evidence": [ { "id": "0050864", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050864" } ], "weight": 0.0 }, { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID:0051054", "name": "coarctation of the aorta", "description": "A congenital heart disease that is characterized by the luminal narrowing of the thoracic aortic arch, typically located just beyond the left subclavian artery. This narrowing creates an obstruction that can lead to significant cardiovascular complications, including systemic hypertension, left ventricular hypertrophy, and eventually heart failure.", "url": "https://disease-ontology.org/term/DOID:0051054", "evidence": [ { "id": "0051054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051054" } ], "weight": 0.0 }, { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:0060770", "name": "dextro-looped transposition of the great arteries", "description": "A congenital heart disease characterized by complete inversion of the great vessels where the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle.", "url": "https://disease-ontology.org/term/DOID:0060770", "evidence": [ { "id": "0060770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060770" } ], "weight": 0.0 }, { "disease_id": "DOID:0070004", "name": "myeloid neoplasm", "description": "A bone marrow cancer that is formed of any one of the bone marrow cells belonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages.", "url": "https://disease-ontology.org/term/DOID:0070004", "evidence": [ { "id": "0070004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070004" } ], "weight": 0.0 }, { "disease_id": "DOID:0080016", "name": "spina bifida", "description": "A neural tube defect that is characterized by incomplete closing of the spine and membranes around the spinal cord during early development.", "url": "https://disease-ontology.org/term/DOID:0080016", "evidence": [ { "id": "0080016", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080016" } ], "weight": 0.0 }, { "disease_id": "DOID:0080074", "name": "neural tube defect", "description": "A physical disorder characterized by incomplete closure of the neural tube.", "url": "https://disease-ontology.org/term/DOID:0080074", "evidence": [ { "id": "0080074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080074" } ], "weight": 0.0 }, { "disease_id": "DOID:0080177", "name": "hepatic veno-occlusive disease", "description": "A hepatic vascular disease that is characterized by obstruction of some of the small veins of the liver.", "url": "https://disease-ontology.org/term/DOID:0080177", "evidence": [ { "id": "0080177", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080177" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0081267", "name": "graft-versus-host disease", "description": "An immune system disease that is characterized by recognition by mature donor T cells, that contaminate the allogeneic bone marrow, of the recipient's tissue as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease, and that has_material_basis_in an associated with variation in the interleukin-10 gene (IL10) on chromosome 1q32.", "url": "https://disease-ontology.org/term/DOID:0081267", "evidence": [ { "id": "0081267", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081267" } ], "weight": 0.0 }, { "disease_id": "DOID:0111907", "name": "thrombophilia due to thrombin defect", "description": "A thrombophilia characterized by recurrent thrombophilia that has_material_basis_in heterozygous mutation in F2 on chromosome 11p11.2.", "url": "https://disease-ontology.org/term/DOID:0111907", "evidence": [ { "id": "0111907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111907" } ], "weight": 0.0 }, { "disease_id": "DOID:10024", "name": "migraine with aura", "description": "A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon.", "url": "https://disease-ontology.org/term/DOID:10024", "evidence": [ { "id": "10024", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10024" } ], "weight": 0.0 }, { "disease_id": "DOID:1067", "name": "open-angle glaucoma", "description": "A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage.", "url": "https://disease-ontology.org/term/DOID:1067", "evidence": [ { "id": "1067", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1067" } ], "weight": 0.0 }, { "disease_id": "DOID:1074", "name": "kidney failure", "description": "A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood.", "url": "https://disease-ontology.org/term/DOID:1074", "evidence": [ { "id": "1074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1074" } ], "weight": 0.0 }, { "disease_id": "DOID:10873", "name": "Kuhnt-Junius degeneration", "description": "", "url": "https://disease-ontology.org/term/DOID:10873", "evidence": [ { "id": "10873", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10873" } ], "weight": 0.0 }, { "disease_id": "DOID:10923", "name": "sickle cell anemia", "description": "A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain.", "url": "https://disease-ontology.org/term/DOID:10923", "evidence": [ { "id": "10923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10923" } ], "weight": 0.0 }, { "disease_id": "DOID:1094", "name": "attention deficit hyperactivity disorder", "description": "A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age.", "url": "https://disease-ontology.org/term/DOID:1094", "evidence": [ { "id": "1094", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1094" } ], "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:11512", "name": "Budd-Chiari syndrome", "description": "A hepatic vascular disease that is characterized by a spectrum of disease states, including anatomic abnormalities and hypercoagulable disorders, resulting in hepatic venous outflow occlusion.", "url": "https://disease-ontology.org/term/DOID:11512", "evidence": [ { "id": "11512", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11512" } ], "weight": 0.0 }, { "disease_id": "DOID:11664", "name": "nephrosclerosis", "description": "", "url": "https://disease-ontology.org/term/DOID:11664", "evidence": [ { "id": "11664", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11664" } ], "weight": 0.0 }, { "disease_id": "DOID:11695", "name": "portal vein thrombosis", "description": "A hepatic vascular disease that is characterized by a blood clot that forms within the hepatic portal vein.", "url": "https://disease-ontology.org/term/DOID:11695", "evidence": [ { "id": "11695", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11695" } ], "weight": 0.0 }, { "disease_id": "DOID:12134", "name": "factor VIII deficiency", "description": "A hemophilia that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged.", "url": "https://disease-ontology.org/term/DOID:12134", "evidence": [ { "id": "12134", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12134" } ], "weight": 0.0 }, { "disease_id": "DOID:12336", "name": "male infertility", "description": "", "url": "https://disease-ontology.org/term/DOID:12336", "evidence": [ { "id": "12336", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12336" } ], "weight": 0.0 }, { "disease_id": "DOID:12361", "name": "Graves' disease", "description": "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.", "url": "https://disease-ontology.org/term/DOID:12361", "evidence": [ { "id": "12361", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12361" } ], "weight": 0.0 }, { "disease_id": "DOID:1287", "name": "cardiovascular system disease", "description": "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.", "url": "https://disease-ontology.org/term/DOID:1287", "evidence": [ { "id": "1287", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1287" } ], "weight": 0.0 }, { "disease_id": "DOID:13001", "name": "carotid stenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:13001", "evidence": [ { "id": "13001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13001" } ], "weight": 0.0 }, { "disease_id": "DOID:13550", "name": "angle-closure glaucoma", "description": "A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis.", "url": "https://disease-ontology.org/term/DOID:13550", "evidence": [ { "id": "13550", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13550" } ], "weight": 0.0 }, { "disease_id": "DOID:14018", "name": "alcoholic liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:14018", "evidence": [ { "id": "14018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14018" } ], "weight": 0.0 }, { "disease_id": "DOID:14250", "name": "Down syndrome", "description": "A chromosomal duplication syndrome that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability.", "url": "https://disease-ontology.org/term/DOID:14250", "evidence": [ { "id": "14250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14250" } ], "weight": 0.0 }, { "disease_id": "DOID:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:1459", "evidence": [ { "id": "1459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ], "weight": 0.0 }, { "disease_id": "DOID:1588", "name": "thrombocytopenia", "description": "A blood platelet disease that is characterized by low a platelet count in the blood.", "url": "https://disease-ontology.org/term/DOID:1588", "evidence": [ { "id": "1588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1588" } ], "weight": 0.0 }, { "disease_id": "DOID:1727", "name": "retinal vein occlusion", "description": "", "url": "https://disease-ontology.org/term/DOID:1727", "evidence": [ { "id": "1727", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1727" } ], "weight": 0.0 }, { "disease_id": "DOID:1749", "name": "squamous cell carcinoma", "description": "A carcinoma that derives_from squamous epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1749", "evidence": [ { "id": "1749", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1749" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID:1984", "name": "rectal benign neoplasm", "description": "An intestinal benign neoplasm located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:1984", "evidence": [ { "id": "1984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1984" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID:2154", "name": "nephroblastoma", "description": "A kidney cancer that affects the kidneys and typically occuring in children.", "url": "https://disease-ontology.org/term/DOID:2154", "evidence": [ { "id": "2154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2154" } ], "weight": 0.0 }, { "disease_id": "DOID:2355", "name": "anemia", "description": "A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.", "url": "https://disease-ontology.org/term/DOID:2355", "evidence": [ { "id": "2355", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2355" } ], "weight": 0.0 }, { "disease_id": "DOID:2388", "name": "renal artery disease", "description": "", "url": "https://disease-ontology.org/term/DOID:2388", "evidence": [ { "id": "2388", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2388" } ], "weight": 0.0 }, { "disease_id": "DOID:2452", "name": "thrombophilia", "description": "A blood coagulation disease that is characterized by an increased tendency to form clots.", "url": "https://disease-ontology.org/term/DOID:2452", "evidence": [ { "id": "2452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2452" } ], "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: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:2987", "name": "familial Mediterranean fever", "description": "An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.", "url": "https://disease-ontology.org/term/DOID:2987", "evidence": [ { "id": "2987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2987" } ], "weight": 0.0 }, { "disease_id": "DOID:3146", "name": "lipid metabolism disorder", "description": "An inherited metabolic disorder that involves the creation and degradation of lipids.", "url": "https://disease-ontology.org/term/DOID:3146", "evidence": [ { "id": "3146", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3146" } ], "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:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "weight": 0.0 }, { "disease_id": "DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix.", "url": "https://disease-ontology.org/term/DOID:4362", "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4947", "evidence": [ { "id": "4947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4947" } ], "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: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:5614", "name": "eye disease", "description": "An eye and adnexa disease that is located_in the eye.", "url": "https://disease-ontology.org/term/DOID:5614", "evidence": [ { "id": "5614", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5614" } ], "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:61", "name": "mitral valve disease", "description": "", "url": "https://disease-ontology.org/term/DOID:61", "evidence": [ { "id": "61", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:61" } ], "weight": 0.0 }, { "disease_id": "DOID:6364", "name": "migraine", "description": "A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing.", "url": "https://disease-ontology.org/term/DOID:6364", "evidence": [ { "id": "6364", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6364" } ], "weight": 0.0 }, { "disease_id": "DOID:6419", "name": "tetralogy of Fallot", "description": "", "url": "https://disease-ontology.org/term/DOID:6419", "evidence": [ { "id": "6419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6419" } ], "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:7147", "name": "ankylosing spondylitis", "description": "An arthritis that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.", "url": "https://disease-ontology.org/term/DOID:7147", "evidence": [ { "id": "7147", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7147" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", "evidence": [ { "id": "7693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ], "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: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:7998", "name": "hyperthyroidism", "description": "A thyroid gland disease that involves an over production of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:7998", "evidence": [ { "id": "7998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7998" } ], "weight": 0.0 }, { "disease_id": "DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.", "url": "https://disease-ontology.org/term/DOID:83", "evidence": [ { "id": "83", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:83" } ], "weight": 0.0 }, { "disease_id": "DOID:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells.", "url": "https://disease-ontology.org/term/DOID:8552", "evidence": [ { "id": "8552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8552" } ], "weight": 0.0 }, { "disease_id": "DOID:8736", "name": "smallpox", "description": "A viral infectious disease that results in infection located in skin, has_material_basis_in Variola virus (Orthopoxvirus variola), which is transmitted by droplets from oral, nasal or pharyngeal mucosa, transmitted by contact with the body fluids, or transmitted by fomites. The infection results in formation of lesions, first on the face, hands and forearms and later on the trunk.", "url": "https://disease-ontology.org/term/DOID:8736", "evidence": [ { "id": "8736", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8736" } ], "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: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: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:9279", "name": "hyperhomocysteinemia", "description": "An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood.", "url": "https://disease-ontology.org/term/DOID:9279", "evidence": [ { "id": "9279", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9279" } ], "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: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:9406", "name": "hypopituitarism", "description": "A pituitary gland disease characterized by the decreased secretion of one or more of the eight hormones normally produced by the pituitary gland.", "url": "https://disease-ontology.org/term/DOID:9406", "evidence": [ { "id": "9406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9406" } ], "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: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:9663", "name": "aphthous stomatitis", "description": "A stomatitis characterized by the repeated formation of benign and non-contagious mouth ulcers.", "url": "https://disease-ontology.org/term/DOID:9663", "evidence": [ { "id": "9663", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9663" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9849", "name": "Meniere's disease", "description": "A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss.", "url": "https://disease-ontology.org/term/DOID:9849", "evidence": [ { "id": "9849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9849" } ], "weight": 0.0 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9VTI0", "url": "https://www.uniprot.org/uniprotkb/Q9VTI0" } ], "pmid": "" } ], "molecular_function": [ { "name": "FAD binding", "id": "GO:0071949", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071949", "evidence": [ { "database": "UniProtKB", "id": "Q9VTI0", "url": "https://www.uniprot.org/uniprotkb/Q9VTI0" } ], "pmid": "" }, { "name": "methylenetetrahydrofolate reductase [NAD(P)H] activity", "id": "GO:0004489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004489", "evidence": [ { "database": "UniProtKB", "id": "Q9VTI0", "url": "https://www.uniprot.org/uniprotkb/Q9VTI0" } ], "pmid": "" }, { "name": "methylenetetrahydrofolate reductase (NADPH) activity", "id": "GO:0106313", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106313", "evidence": [ { "database": "UniProtKB", "id": "Q9VTI0", "url": "https://www.uniprot.org/uniprotkb/Q9VTI0" } ], "pmid": "" } ], "biological_process": [ { "name": "tetrahydrofolate interconversion", "id": "GO:0035999", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035999", "evidence": [ { "database": "UniProtKB", "id": "Q9VTI0", "url": "https://www.uniprot.org/uniprotkb/Q9VTI0" } ], "pmid": "" }, { "name": "methionine biosynthetic process", "id": "GO:0009086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009086", "evidence": [ { "database": "UniProtKB", "id": "Q9VTI0", "url": "https://www.uniprot.org/uniprotkb/Q9VTI0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VTK6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VTK6", "url": "https://www.uniprot.org/uniprotkb/Q9VTK6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 530, "chemical_mass": 58697.0, "gene_names": "Dmel\\CG7368;CG7368;Dmel\\CG7368;Dmel_CG7368", "protein_name": "C2H2-type domain-containing protein", "disease": [], "biological_process": [ { "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": "Q9VTK6", "url": "https://www.uniprot.org/uniprotkb/Q9VTK6" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q9VTK6", "url": "https://www.uniprot.org/uniprotkb/Q9VTK6" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "Q9VTK6", "url": "https://www.uniprot.org/uniprotkb/Q9VTK6" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q9VTK6", "url": "https://www.uniprot.org/uniprotkb/Q9VTK6" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9VTK6", "url": "https://www.uniprot.org/uniprotkb/Q9VTK6" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q9VTK6", "url": "https://www.uniprot.org/uniprotkb/Q9VTK6" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", 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has_material_basis_in mutation in the PRPF31 gene on chromosome 19q13.", "url": "https://disease-ontology.org/term/DOID:0110408", "evidence": [ { "id": "0110408", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110408" } ], "weight": 0.0 }, { "disease_id": "DOID:10584", "name": "retinitis pigmentosa", "description": "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.", "url": "https://disease-ontology.org/term/DOID:10584", "evidence": [ { "id": "10584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10584" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q9VUM1", "url": "https://www.uniprot.org/uniprotkb/Q9VUM1" } ], "pmid": "" }, { "name": "ribonucleoprotein complex binding", "id": "GO:0043021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043021", "evidence": [ { "database": "UniProtKB", "id": "Q9VUM1", "url": "https://www.uniprot.org/uniprotkb/Q9VUM1" } ], "pmid": "" } ], "biological_process": [ { "name": "spliceosomal tri-snRNP complex assembly", "id": "GO:0000244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000244", "evidence": [ { "database": "UniProtKB", "id": "Q9VUM1", "url": "https://www.uniprot.org/uniprotkb/Q9VUM1" } ], "pmid": "" }, { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "Q9VUM1", "url": "https://www.uniprot.org/uniprotkb/Q9VUM1" } ], "pmid": "" } ], "cellular_component": [ { "name": "spliceosomal complex", "id": "GO:0005681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005681", "evidence": [ { "database": "UniProtKB", "id": "Q9VUM1", "url": "https://www.uniprot.org/uniprotkb/Q9VUM1" } ], "pmid": "" }, { "name": "precatalytic spliceosome", "id": "GO:0071011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071011", "evidence": [ { "database": "UniProtKB", "id": "Q9VUM1", "url": "https://www.uniprot.org/uniprotkb/Q9VUM1" } ], "pmid": "" }, { "name": "U4 snRNP", "id": "GO:0005687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005687", "evidence": [ { "database": "UniProtKB", "id": "Q9VUM1", "url": "https://www.uniprot.org/uniprotkb/Q9VUM1" } ], "pmid": "" }, { "name": "U4/U6 x U5 tri-snRNP complex", "id": "GO:0046540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046540", "evidence": [ { "database": "UniProtKB", "id": "Q9VUM1", "url": "https://www.uniprot.org/uniprotkb/Q9VUM1" } ], "pmid": "" }, { "name": "spliceosomal tri-snRNP complex", "id": "GO:0097526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097526", "evidence": [ { "database": "UniProtKB", "id": "Q9VUM1", "url": "https://www.uniprot.org/uniprotkb/Q9VUM1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VUM2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VUM2", "url": "https://www.uniprot.org/uniprotkb/Q9VUM2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 79, "chemical_mass": 8237.0, "gene_names": "Dmel\\CG6878;CG6878;Dmel\\CG6878;Dmel_CG6878;Romo1", "protein_name": "Reactive oxygen species modulator 1", "disease": [ { "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 } ], "biological_process": [ { "name": "positive regulation of mitophagy", "id": "GO:1901526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901526", "evidence": [ { "database": "UniProtKB", "id": "Q9VUM2", "url": "https://www.uniprot.org/uniprotkb/Q9VUM2" } ], "pmid": "" }, { "name": "protein insertion into mitochondrial inner membrane", "id": "GO:0045039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045039", "evidence": [ { "database": "UniProtKB", "id": "Q9VUM2", "url": "https://www.uniprot.org/uniprotkb/Q9VUM2" } ], "pmid": "" }, { "name": "monoatomic cation transmembrane transport", "id": "GO:0098655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098655", "evidence": [ { "database": "UniProtKB", "id": "Q9VUM2", "url": "https://www.uniprot.org/uniprotkb/Q9VUM2" } ], "pmid": "" }, { "name": "protein import into mitochondrial matrix", "id": "GO:0030150", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030150", "evidence": [ { "database": "UniProtKB", "id": "Q9VUM2", "url": "https://www.uniprot.org/uniprotkb/Q9VUM2" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q9VUM2", "url": "https://www.uniprot.org/uniprotkb/Q9VUM2" } ], "pmid": "" }, { "name": "TIM23 mitochondrial import inner membrane translocase complex", "id": "GO:0005744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005744", "evidence": [ { "database": "UniProtKB", "id": "Q9VUM2", "url": "https://www.uniprot.org/uniprotkb/Q9VUM2" } ], "pmid": "" } ], "molecular_function": [ { "name": "monoatomic cation transmembrane transporter activity", "id": "GO:0008324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008324", "evidence": [ { "database": "UniProtKB", "id": "Q9VUM2", "url": "https://www.uniprot.org/uniprotkb/Q9VUM2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VUN2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VUN2", "url": "https://www.uniprot.org/uniprotkb/Q9VUN2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 318, "chemical_mass": 36525.0, "gene_names": "cocoon;CG7804;Dmel\\CG7804;Dmel_CG7804;cg7804;cocoon", "protein_name": "TAR DNA-binding protein 43", "disease": [ { "disease_id": "DOID:0050848", "name": "obstructive sleep apnea", "description": "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.", "url": "https://disease-ontology.org/term/DOID:0050848", "evidence": [ { "id": "0050848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050848" } ], "weight": 0.0 }, { "disease_id": "DOID:0060201", "name": "amyotrophic lateral sclerosis type 10", "description": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TARDBP gene on chromosome 1.", "url": "https://disease-ontology.org/term/DOID:0060201", "evidence": [ { "id": "0060201", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060201" } ], "weight": 0.0 }, { "disease_id": "DOID:0060672", "name": "frontotemporal dementia 2", "description": "A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has_material_basis_in mutation in the GRN gene on chromosome 17q21.31.", "url": "https://disease-ontology.org/term/DOID:0060672", "evidence": [ { "id": "0060672", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060672" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:11870", "name": "Pick's disease", "description": "A frontotemporal dementia that is characterized by a spectrum of neuropsychiatric symptoms ranging from those that affect the patient's personality 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} ], "pmid": "" }, { "name": "small-subunit processome", "id": "GO:0032040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032040", "evidence": [ { "database": "UniProtKB", "id": "Q9VUN7", "url": "https://www.uniprot.org/uniprotkb/Q9VUN7" } ], "pmid": "" } ], "biological_process": [ { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q9VUN7", "url": "https://www.uniprot.org/uniprotkb/Q9VUN7" } ], "pmid": "" }, { "name": "maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)", "id": "GO:0000462", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000462", "evidence": [ { "database": "UniProtKB", "id": "Q9VUN7", "url": "https://www.uniprot.org/uniprotkb/Q9VUN7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VUP0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VUP0", "url": "https://www.uniprot.org/uniprotkb/Q9VUP0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 174, "chemical_mass": 19514.0, "gene_names": "Dmel\\CG7841;CG7841;Dmel\\CG7841;Dmel_CG7841", "protein_name": "Protein FAM195A", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VUP0", "url": "https://www.uniprot.org/uniprotkb/Q9VUP0" } ], "pmid": "" }, { "name": "cytoplasmic stress granule", "id": "GO:0010494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010494", "evidence": [ { "database": "UniProtKB", "id": "Q9VUP0", "url": "https://www.uniprot.org/uniprotkb/Q9VUP0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VUQ9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VUQ9", "url": "https://www.uniprot.org/uniprotkb/Q9VUQ9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 2139, "chemical_mass": 225509.0, "gene_names": "dop;CG6498;Dmel\\CG6498;Dmel_CG6498;MAST 205;MAST205;dop", "protein_name": "non-specific serine/threonine protein kinase", "disease": [ { "disease_id": "DOID:0050457", "name": "Sertoli cell-only syndrome", "description": "A male infertility disease characterized by male sterility, has_material_basis_in azospermia without abnormal sexual development.", "url": "https://disease-ontology.org/term/DOID:0050457", "evidence": [ { "id": "0050457", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050457" } ], "weight": 0.0 }, { "disease_id": "DOID:0050671", "name": "female breast cancer", 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dystrophy that has_material_basis_in homozygous mutation in the CDHR1 gene on chromosome 10q23.", "url": "https://disease-ontology.org/term/DOID:0111021", "evidence": [ { "id": "0111021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111021" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VVG0", "url": "https://www.uniprot.org/uniprotkb/Q9VVG0" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "Q9VVG0", "url": "https://www.uniprot.org/uniprotkb/Q9VVG0" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q9VVG0", "url": "https://www.uniprot.org/uniprotkb/Q9VVG0" } 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"https://www.uniprot.org/uniprotkb/Q9VVG0" } ], "pmid": "" }, { "name": "developmental growth", "id": "GO:0048589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048589", "evidence": [ { "database": "UniProtKB", "id": "Q9VVG0", "url": "https://www.uniprot.org/uniprotkb/Q9VVG0" } ], "pmid": "" }, { "name": "calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules", "id": "GO:0016339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016339", "evidence": [ { "database": "UniProtKB", "id": "Q9VVG0", "url": "https://www.uniprot.org/uniprotkb/Q9VVG0" } ], "pmid": "" }, { "name": "establishment or maintenance of cell polarity", "id": "GO:0007163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007163", "evidence": [ { "database": "UniProtKB", "id": "Q9VVG0", "url": "https://www.uniprot.org/uniprotkb/Q9VVG0" } ], "pmid": "" }, { "name": "animal organ development", "id": "GO:0048513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048513", "evidence": [ { "database": "UniProtKB", "id": "Q9VVG0", "url": "https://www.uniprot.org/uniprotkb/Q9VVG0" } ], "pmid": "" }, { "name": "cell-cell adhesion mediated by cadherin", "id": "GO:0044331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044331", "evidence": [ { "database": "UniProtKB", "id": "Q9VVG0", "url": "https://www.uniprot.org/uniprotkb/Q9VVG0" } ], "pmid": "" }, { "name": "establishment of planar polarity", "id": "GO:0001736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001736", "evidence": [ { "database": "UniProtKB", "id": "Q9VVG0", "url": "https://www.uniprot.org/uniprotkb/Q9VVG0" } ], "pmid": "" }, { "name": "dorsal appendage formation", "id": "GO:0046843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046843", "evidence": [ { "database": "UniProtKB", "id": "Q9VVG0", "url": "https://www.uniprot.org/uniprotkb/Q9VVG0" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q9VVG0", "url": "https://www.uniprot.org/uniprotkb/Q9VVG0" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q9VVG0", "url": "https://www.uniprot.org/uniprotkb/Q9VVG0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VVG0-1", "start_pos": "1523", "end_pos": "1523", "site_lbl": "Thr1523", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1523, "start_aa": "Thr", "end_pos": 1523, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1523", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VVH0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VVH0", "url": "https://www.uniprot.org/uniprotkb/Q9VVH0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 571, "chemical_mass": 65508.0, "gene_names": "Pykl4;CG12229;Dmel\\CG12229;Dmel_CG12229", "protein_name": "Pyruvate kinase C-terminal domain-containing protein", "disease": [], "molecular_function": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "Q9VVH0", "url": "https://www.uniprot.org/uniprotkb/Q9VVH0" } ], "pmid": "" }, { "name": "transferase activity", "id": "GO:0016740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016740", "evidence": [ { "database": "UniProtKB", "id": "Q9VVH0", "url": "https://www.uniprot.org/uniprotkb/Q9VVH0" } ], "pmid": "" }, { "name": "potassium ion binding", "id": "GO:0030955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030955", "evidence": [ { "database": "UniProtKB", "id": "Q9VVH0", "url": "https://www.uniprot.org/uniprotkb/Q9VVH0" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VVH0", "url": "https://www.uniprot.org/uniprotkb/Q9VVH0" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9VVH0", "url": "https://www.uniprot.org/uniprotkb/Q9VVH0" } ], "pmid": "" } ], "biological_process": [ { "name": "glycolytic process", "id": "GO:0006096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006096", "evidence": [ { "database": "UniProtKB", "id": "Q9VVH0", "url": "https://www.uniprot.org/uniprotkb/Q9VVH0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VVJ1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VVJ1", "url": "https://www.uniprot.org/uniprotkb/Q9VVJ1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 412, "chemical_mass": 46152.0, "gene_names": "Pgr;BcDNA:GH27361;CG7497;CHED-related;Dmel\\CG7497;Dmel_CG7497;anon-WO0170980.88;anon-WO0170980.89", "protein_name": "G-protein coupled receptors family 1 profile domain-containing protein", "disease": [ { "disease_id": "DOID:0060001", "name": "withdrawal disorder", "description": "A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol.", "url": "https://disease-ontology.org/term/DOID:0060001", "evidence": [ { "id": "0060001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060001" } ], "weight": 0.0 }, { "disease_id": "DOID:0080822", "name": "aspirin-induced respiratory disease", "description": "An intrinsic asthma that is characterized by severe and prolonged airway obstruction after the ingestion of aspirin or other non-steroidal anti-inflammatory drugs.", "url": "https://disease-ontology.org/term/DOID:0080822", "evidence": [ { "id": "0080822", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080822" } ], "weight": 0.0 }, { "disease_id": "DOID:0111579", "name": "asthma, nasal polyps, and aspirin intolerance", "description": "A respiratory system disease characterized by asthma, aspirin-induced bronchoconstriction, and nasal polyps.", "url": "https://disease-ontology.org/term/DOID:0111579", "evidence": [ { "id": "0111579", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111579" } ], "weight": 0.0 }, { "disease_id": "DOID:1074", "name": "kidney failure", "description": "A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood.", "url": "https://disease-ontology.org/term/DOID:1074", "evidence": [ { "id": "1074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1074" } ], "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:10808", "name": "gastric ulcer", "description": "", "url": "https://disease-ontology.org/term/DOID:10808", "evidence": [ { "id": "10808", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10808" } ], "weight": 0.0 }, { "disease_id": "DOID:10976", "name": "membranous glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:10976", "evidence": [ { "id": "10976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10976" } ], "weight": 0.0 }, { "disease_id": "DOID:11394", "name": "adult respiratory distress syndrome", "description": "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia.", "url": "https://disease-ontology.org/term/DOID:11394", "evidence": [ { "id": "11394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11394" } ], "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: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:12510", "name": "retinal ischemia", "description": "An ischemia that is characterized by restriction in blood supply to the retina.", "url": "https://disease-ontology.org/term/DOID:12510", "evidence": [ { "id": "12510", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12510" } ], "weight": 0.0 }, { "disease_id": "DOID:127", "name": "leiomyoma", "description": "A cell type benign neoplasm that is a benign tumor of smooth muscle cells.", "url": "https://disease-ontology.org/term/DOID:127", "evidence": [ { "id": "127", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:127" } ], "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:14115", "name": "toxic shock syndrome", "description": "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.", "url": "https://disease-ontology.org/term/DOID:14115", "evidence": [ { "id": "14115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ], "weight": 0.0 }, { "disease_id": "DOID:1588", "name": "thrombocytopenia", "description": "A blood platelet disease that is characterized by low a platelet count in the blood.", "url": "https://disease-ontology.org/term/DOID:1588", "evidence": [ { "id": "1588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1588" } ], "weight": 0.0 }, { "disease_id": "DOID:1591", "name": "renovascular hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:1591", "evidence": [ { "id": "1591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1591" } ], "weight": 0.0 }, { "disease_id": "DOID:1679", "name": "cystitis", "description": "A bladder disease that is characterized by inflammation of the bladder.", "url": "https://disease-ontology.org/term/DOID:1679", "evidence": [ { "id": "1679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1679" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2218", "name": "blood platelet disease", "description": "A blood coagulation disease that is characterized by an abnormal increase or decrease in platelets or platelet dysfunction.", "url": "https://disease-ontology.org/term/DOID:2218", "evidence": [ { "id": "2218", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2218" } ], "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:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:3907", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell.", "url": "https://disease-ontology.org/term/DOID:3907", "evidence": [ { "id": "3907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3907" } ], "weight": 0.0 }, { "disease_id": "DOID: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:7147", "name": "ankylosing spondylitis", "description": "An arthritis that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.", "url": "https://disease-ontology.org/term/DOID:7147", "evidence": [ { "id": "7147", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7147" } ], "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:820", "name": "myocarditis", "description": "An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:820", "evidence": [ { "id": "820", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:820" } ], "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:9415", "name": "allergic asthma", "description": "An extrinsic asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. 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"https://disease-ontology.org/term/DOID:0110731", "evidence": [ { "id": "0110731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110731" } ], "weight": 0.0 }, { "disease_id": "DOID:14503", "name": "neuronal ceroid lipofuscinosis", "description": "", "url": "https://disease-ontology.org/term/DOID:14503", "evidence": [ { "id": "14503", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14503" } ], "weight": 0.0 } ], "biological_process": [ { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "Q9VVL0", "url": "https://www.uniprot.org/uniprotkb/Q9VVL0" } ], "pmid": "" }, { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q9VVL0", "url": "https://www.uniprot.org/uniprotkb/Q9VVL0" } ], "pmid": "" }, { "name": "lysosome 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"id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VVL0", "url": "https://www.uniprot.org/uniprotkb/Q9VVL0" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q9VVL0", "url": "https://www.uniprot.org/uniprotkb/Q9VVL0" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q9VVL0", "url": "https://www.uniprot.org/uniprotkb/Q9VVL0" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q9VVL0", "url": "https://www.uniprot.org/uniprotkb/Q9VVL0" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": 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"Q9VX12", "url": "https://www.uniprot.org/uniprotkb/Q9VX12" } ], "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": "Q9VX12", "url": "https://www.uniprot.org/uniprotkb/Q9VX12" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VX15-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VX15", "url": "https://www.uniprot.org/uniprotkb/Q9VX15" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 353, "chemical_mass": 39555.0, "gene_names": "Rfc37;CG8142;DmRFC2;Dmel\\CG8142;Dmel_CG8142;RFC2;RfC;Rfc37;rfc4", "protein_name": "Replication factor C subunit 2", "disease": [], "biological_process": [ { "name": "DNA 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"name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9VX15", "url": "https://www.uniprot.org/uniprotkb/Q9VX15" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9VX15", "url": "https://www.uniprot.org/uniprotkb/Q9VX15" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q9VX15", "url": "https://www.uniprot.org/uniprotkb/Q9VX15" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VX15", "url": "https://www.uniprot.org/uniprotkb/Q9VX15" } ], "pmid": "" }, { "name": "Elg1 RFC-like complex", "id": "GO:0031391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031391", "evidence": [ { "database": "UniProtKB", "id": "Q9VX15", "url": "https://www.uniprot.org/uniprotkb/Q9VX15" } ], "pmid": "" }, { "name": "DNA replication factor C complex", "id": "GO:0005663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005663", "evidence": [ { "database": "UniProtKB", "id": "Q9VX15", "url": "https://www.uniprot.org/uniprotkb/Q9VX15" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VX49-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VX49", "url": "https://www.uniprot.org/uniprotkb/Q9VX49" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 759, "chemical_mass": 84990.0, "gene_names": "Dmel\\CG8568;CG8568;Dmel\\CG8568;Dmel_CG8568", "protein_name": "DUF4773 domain-containing 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"batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VX69-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VX69", "url": "https://www.uniprot.org/uniprotkb/Q9VX69" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 411, "chemical_mass": 44427.0, "gene_names": "Dmel\\CG5162;CG5162;Dmel\\CG5162;Dmel_CG5162", "protein_name": "Lipase domain-containing protein", "disease": [ { "disease_id": "DOID:0070658", "name": "alcohol-associated liver disease", "description": "A liver disease resulting from excessive alcohol intake.", "url": "https://disease-ontology.org/term/DOID:0070658", "evidence": [ { "id": "0070658", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070658" } ], "weight": 0.0 }, { "disease_id": "DOID:0080000", "name": "muscular disease", "description": "A musculoskeletal system disease that affects the muscles.", "url": "https://disease-ontology.org/term/DOID:0080000", "evidence": [ { "id": "0080000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080000" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. 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functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1168", "name": "familial hyperlipidemia", "description": "A lipid metabolism disease that is characterized by elevated levels of lipids in the blood.", "url": "https://disease-ontology.org/term/DOID:1168", "evidence": [ { "id": "1168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1168" } ], "weight": 0.0 }, { "disease_id": "DOID:1287", "name": "cardiovascular system disease", "description": "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.", "url": "https://disease-ontology.org/term/DOID:1287", "evidence": [ { "id": "1287", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1287" } ], "weight": 0.0 }, { "disease_id": "DOID:1312", "name": "focal segmental glomerulosclerosis", "description": "", "url": "https://disease-ontology.org/term/DOID:1312", "evidence": [ { "id": "1312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1312" } ], "weight": 0.0 }, { "disease_id": "DOID:13809", "name": "familial combined hyperlipidemia", "description": "", "url": "https://disease-ontology.org/term/DOID:13809", "evidence": [ { "id": "13809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13809" } ], "weight": 0.0 }, { "disease_id": "DOID:14118", "name": "familial lipoprotein lipase deficiency", "description": "A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides.", "url": "https://disease-ontology.org/term/DOID:14118", "evidence": [ { "id": "14118", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14118" } ], "weight": 0.0 }, { "disease_id": "DOID:14221", "name": "abdominal obesity-metabolic syndrome 1", "description": "An abdominal obesity-metabolic syndrome characterized by insulin resistance and hyperinsulinemia, dyslipidemia, essential hypertension, abdominal obesity, glucose intolerance or noninsulin-dependent diabetes mellitus and an increased risk of cardiovascular events.", "url": "https://disease-ontology.org/term/DOID:14221", "evidence": [ { "id": "14221", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14221" } ], "weight": 0.0 }, { "disease_id": "DOID:2018", "name": "hyperinsulinism", "description": "", "url": "https://disease-ontology.org/term/DOID:2018", "evidence": [ { "id": "2018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2018" } ], "weight": 0.0 }, { "disease_id": "DOID: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:341", "name": "peripheral vascular disease", "description": "A vascular disease that is characterized by obstruction of vessels not within the coronary, aortic arch vasculature, or brain.", "url": "https://disease-ontology.org/term/DOID:341", "evidence": [ { "id": "341", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:341" } ], "weight": 0.0 }, { "disease_id": "DOID:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "weight": 0.0 }, { "disease_id": "DOID:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:557", "evidence": [ { "id": "557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:557" } ], "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:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", 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"batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VX70-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VX70", "url": "https://www.uniprot.org/uniprotkb/Q9VX70" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 468, "chemical_mass": 51167.0, "gene_names": "CT41369;CG18258;CT41369;Dmel\\CG18258;Dmel_CG18258;anon-SAGE:Wang-051", "protein_name": "Lipase domain-containing protein", "disease": [ { "disease_id": "DOID:0070658", "name": "alcohol-associated liver disease", "description": "A liver disease resulting from excessive alcohol intake.", "url": "https://disease-ontology.org/term/DOID:0070658", "evidence": [ { "id": "0070658", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070658" } ], "weight": 0.0 }, { "disease_id": "DOID:0080000", "name": "muscular disease", "description": "A musculoskeletal system disease 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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:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1168", "name": "familial hyperlipidemia", "description": "A lipid metabolism disease that is characterized by elevated levels of lipids in the blood.", "url": "https://disease-ontology.org/term/DOID:1168", "evidence": [ { "id": "1168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1168" } ], "weight": 0.0 }, { "disease_id": "DOID:1287", "name": "cardiovascular system disease", "description": "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.", "url": "https://disease-ontology.org/term/DOID:1287", "evidence": [ { "id": "1287", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1287" } ], "weight": 0.0 }, { "disease_id": "DOID:1312", "name": "focal segmental glomerulosclerosis", "description": "", "url": "https://disease-ontology.org/term/DOID:1312", "evidence": [ { "id": "1312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1312" } ], "weight": 0.0 }, { "disease_id": "DOID:13809", "name": "familial combined hyperlipidemia", "description": "", "url": "https://disease-ontology.org/term/DOID:13809", "evidence": [ { "id": "13809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13809" } ], "weight": 0.0 }, { "disease_id": "DOID:14118", "name": "familial lipoprotein lipase deficiency", "description": "A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides.", "url": "https://disease-ontology.org/term/DOID:14118", "evidence": [ { "id": "14118", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14118" } ], "weight": 0.0 }, { "disease_id": "DOID:14221", "name": "abdominal obesity-metabolic syndrome 1", "description": "An abdominal obesity-metabolic syndrome characterized by insulin resistance and hyperinsulinemia, dyslipidemia, essential hypertension, abdominal obesity, glucose intolerance or noninsulin-dependent diabetes mellitus and an increased risk of cardiovascular events.", "url": "https://disease-ontology.org/term/DOID:14221", "evidence": [ { "id": "14221", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14221" } ], "weight": 0.0 }, { "disease_id": "DOID:2018", "name": "hyperinsulinism", "description": "", "url": "https://disease-ontology.org/term/DOID:2018", "evidence": [ { "id": "2018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2018" } ], "weight": 0.0 }, { "disease_id": "DOID: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:341", "name": "peripheral vascular disease", "description": "A vascular disease that is characterized by obstruction of vessels not within the coronary, aortic arch vasculature, or brain.", "url": "https://disease-ontology.org/term/DOID:341", "evidence": [ { "id": "341", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:341" } ], "weight": 0.0 }, { "disease_id": "DOID:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "weight": 0.0 }, { "disease_id": "DOID:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:557", "evidence": [ { "id": "557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:557" } ], "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:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID: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 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"https://www.ebi.ac.uk/QuickGO/term/GO:0017171", "evidence": [ { "database": "UniProtKB", "id": "Q9VX70", "url": "https://www.uniprot.org/uniprotkb/Q9VX70" } ], "pmid": "" }, { "name": "triacylglycerol lipase activity", "id": "GO:0004806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004806", "evidence": [ { "database": "UniProtKB", "id": "Q9VX70", "url": "https://www.uniprot.org/uniprotkb/Q9VX70" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "Q9VX70", "url": "https://www.uniprot.org/uniprotkb/Q9VX70" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VX85-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VX85", "url": "https://www.uniprot.org/uniprotkb/Q9VX85" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 517, "chemical_mass": 54986.0, "gene_names": "Dmel\\CG4955;CG4955;Dmel\\CG4955;Dmel_CG4955;anon-WO0140519.97", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VXA9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VXA9", "url": "https://www.uniprot.org/uniprotkb/Q9VXA9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 274, "chemical_mass": 30049.0, "gene_names": "Q9VXA9;CG4789;Dmel\\CG4789;Dmel_CG4789;Q9VXA9", "protein_name": "Rab-like protein 3", "disease": [ { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": 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"GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q9VXA9", "url": "https://www.uniprot.org/uniprotkb/Q9VXA9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VXB4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VXB4", "url": "https://www.uniprot.org/uniprotkb/Q9VXB4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 403, "chemical_mass": 46615.0, "gene_names": "Dmel\\CG9609;CG9609;Dmel\\CG9609;Dmel_CG9609", "protein_name": "C2H2-type domain-containing protein", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VXB4", "url": 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"https://www.uniprot.org/uniprotkb/Q9VXB8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 575, "chemical_mass": 64052.0, "gene_names": "CG13007;CG13006;CG13007;CG32572;Dmel\\CG32572;Dmel_CG32572", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VXB8-1", "start_pos": "246", "end_pos": "246", "site_lbl": "Thr246", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 246, "start_aa": "Thr", "end_pos": 246, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr246", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": 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"GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VXC8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VXC8", "url": "https://www.uniprot.org/uniprotkb/Q9VXC8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 249, "chemical_mass": 26336.0, "gene_names": "sphe;CG9675;Dmel\\CG9675;Dmel_CG9675;SPH114;Spheroide;Sphe;anon-EST:ParkEST153;anon-WO0140519.154;sphe", "protein_name": "trypsin", "disease": [ { "disease_id": "DOID:0080178", "name": "mucositis", "description": "A gastrointestinal system disease that is characterized by painful inflammation and ulceration of the mucous membranes lining the digestive tract.", "url": "https://disease-ontology.org/term/DOID:0080178", "evidence": [ { "id": "0080178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080178" } ], "weight": 0.0 }, { "disease_id": "DOID:10247", "name": "pleurisy", "description": "A pleural disease that is characterized by inflammation of the pleura, the lining of the pleural cavity surrounding the lungs.", "url": "https://disease-ontology.org/term/DOID:10247", "evidence": [ { "id": "10247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10247" } ], "weight": 0.0 }, { "disease_id": "DOID:14115", "name": "toxic shock syndrome", "description": "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.", "url": "https://disease-ontology.org/term/DOID:14115", "evidence": [ { "id": "14115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ], "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:2562", "name": "suppurative periapical periodontitis", "description": "", "url": "https://disease-ontology.org/term/DOID:2562", "evidence": [ { "id": "2562", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2562" } ], "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: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:8997", "name": "polycythemia vera", "description": "A myeloproliferative neoplasm characterized by erythroid hyperplasia, myeloid leukocytosis, thrombocytosis, and splenomegaly.", "url": "https://disease-ontology.org/term/DOID:8997", "evidence": [ { "id": "8997", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8997" } ], "weight": 0.0 }, { "disease_id": "DOID:9675", "name": "pulmonary emphysema", "description": "A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls.", "url": "https://disease-ontology.org/term/DOID:9675", "evidence": [ { "id": "9675", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9675" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9VXC8", "url": "https://www.uniprot.org/uniprotkb/Q9VXC8" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q9VXC8", "url": "https://www.uniprot.org/uniprotkb/Q9VXC8" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q9VXC8", "url": "https://www.uniprot.org/uniprotkb/Q9VXC8" } ], "pmid": "" }, { "name": "defense response to Gram-positive bacterium", "id": "GO:0050830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050830", "evidence": [ { "database": "UniProtKB", "id": "Q9VXC8", "url": "https://www.uniprot.org/uniprotkb/Q9VXC8" } ], "pmid": "" }, { "name": "defense response to fungus", "id": "GO:0050832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050832", "evidence": [ { "database": "UniProtKB", "id": "Q9VXC8", "url": "https://www.uniprot.org/uniprotkb/Q9VXC8" } ], "pmid": "" }, { "name": "positive regulation of antibacterial peptide biosynthetic process", "id": "GO:0006963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006963", "evidence": [ { "database": "UniProtKB", "id": "Q9VXC8", "url": "https://www.uniprot.org/uniprotkb/Q9VXC8" } ], "pmid": "" }, { "name": "Toll receptor ligand protein activation cascade", "id": "GO:0160032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160032", "evidence": [ { "database": "UniProtKB", "id": "Q9VXC8", "url": "https://www.uniprot.org/uniprotkb/Q9VXC8" } ], "pmid": "" } ], "molecular_function": [ { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q9VXC8", "url": "https://www.uniprot.org/uniprotkb/Q9VXC8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VXE2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VXE2", "url": "https://www.uniprot.org/uniprotkb/Q9VXE2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 413, "chemical_mass": 46837.0, "gene_names": "Dmel\\CG9777;CG9777;Dmel\\CG9777;Dmel_CG9777", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VXF0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VXF0", "url": "https://www.uniprot.org/uniprotkb/Q9VXF0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 232, "chemical_mass": 25393.0, "gene_names": "Dmel\\CG13014;CG13014;Dmel\\CG13014;Dmel_CG13014", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VXF4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VXF4", "url": "https://www.uniprot.org/uniprotkb/Q9VXF4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1137, "chemical_mass": 129333.0, "gene_names": "Dmel\\CG9902;CG9902;Dmel\\CG9902;Dmel_CG9902", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VXF4-1", "start_pos": "837", "end_pos": "837", "site_lbl": "Thr837", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 837, "start_aa": "Thr", "end_pos": 837, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr837", "evidence": [ { "id": "40245499", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40245499" }, { "id": "Q9VXF4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9VXF4" } ] } ] } ], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VXH3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VXH3", "url": "https://www.uniprot.org/uniprotkb/Q9VXH3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1236, "chemical_mass": 142053.0, "gene_names": "sl;CG4200;DPLCgamma;Dmel\\CG4200;Dmel_CG4200;PLC-gamma D;PLC-gammaD;PLC-gamma;PLCgamma1;PLCgammaDmel;PLCgamma;PLC;Plcgamma;Sl;p145;plc-gammad;plc-gamma;sl", "protein_name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma", "disease": [ { "disease_id": "DOID:0050424", "name": "familial adenomatous polyposis", "description": "An intestinal disease that is characterized by predisposition to colon cancer.", "url": "https://disease-ontology.org/term/DOID:0050424", "evidence": [ { "id": "0050424", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050424" } ], "weight": 0.0 }, { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID:0070615", "name": "autoinflammation, antibody deficiency, and immune dysregulation syndrome", "description": "An autoimmune disease characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract that has_material_basis in heterozygous mutation in the PLCG2 gene on chromosome 16q23.", "url": "https://disease-ontology.org/term/DOID:0070615", "evidence": [ { "id": "0070615", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070615" } ], "weight": 0.0 }, { "disease_id": "DOID:0090064", "name": "familial cold autoinflammatory syndrome 3", "description": "A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance of development of cutaneous urticaria, erythema and pruritus in response to cold exposure with. FCAS3 has_material_basis_in heterozygous deletion within the PLCG2 gene on chromosome 16q.", "url": "https://disease-ontology.org/term/DOID:0090064", "evidence": [ { "id": "0090064", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090064" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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: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: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: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:9408", "name": "acute myocardial infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:9408", "evidence": [ { "id": "9408", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9408" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "phosphatidylinositol-4,5-bisphosphate phospholipase C activity", "id": "GO:0004435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004435", "evidence": [ { "database": "UniProtKB", "id": "Q9VXH3", "url": "https://www.uniprot.org/uniprotkb/Q9VXH3" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of cell growth", "id": "GO:0030307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030307", "evidence": [ { "database": "UniProtKB", "id": "Q9VXH3", "url": "https://www.uniprot.org/uniprotkb/Q9VXH3" } ], "pmid": "" }, { "name": "phospholipid catabolic process", "id": "GO:0009395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009395", "evidence": [ { "database": "UniProtKB", "id": "Q9VXH3", "url": "https://www.uniprot.org/uniprotkb/Q9VXH3" } ], "pmid": "" }, { "name": "response to insulin", "id": "GO:0032868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032868", "evidence": [ { "database": "UniProtKB", "id": "Q9VXH3", "url": "https://www.uniprot.org/uniprotkb/Q9VXH3" } ], "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": "Q9VXH3", "url": "https://www.uniprot.org/uniprotkb/Q9VXH3" } ], "pmid": "" }, { "name": "negative regulation of ERK1 and ERK2 cascade", "id": "GO:0070373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070373", "evidence": [ { "database": "UniProtKB", "id": "Q9VXH3", "url": "https://www.uniprot.org/uniprotkb/Q9VXH3" } ], "pmid": "" }, { "name": "phosphatidylinositol-mediated signaling", "id": "GO:0048015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048015", "evidence": [ { "database": "UniProtKB", "id": "Q9VXH3", "url": "https://www.uniprot.org/uniprotkb/Q9VXH3" } ], "pmid": "" }, { "name": "negative regulation of cell differentiation", "id": "GO:0045596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045596", "evidence": [ { "database": "UniProtKB", "id": "Q9VXH3", "url": "https://www.uniprot.org/uniprotkb/Q9VXH3" } ], "pmid": "" }, { "name": "negative regulation of epidermal growth factor receptor signaling pathway", "id": "GO:0042059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042059", "evidence": [ { "database": "UniProtKB", "id": "Q9VXH3", "url": "https://www.uniprot.org/uniprotkb/Q9VXH3" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell migration", "id": "GO:0010634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010634", "evidence": [ { "database": "UniProtKB", "id": "Q9VXH3", "url": "https://www.uniprot.org/uniprotkb/Q9VXH3" } ], "pmid": "" }, { "name": "phosphatidylinositol metabolic process", "id": "GO:0046488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046488", "evidence": [ { "database": "UniProtKB", "id": "Q9VXH3", "url": "https://www.uniprot.org/uniprotkb/Q9VXH3" } ], "pmid": "" }, { "name": "anatomical structure morphogenesis", "id": "GO:0009653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009653", "evidence": [ { "database": "UniProtKB", "id": "Q9VXH3", "url": "https://www.uniprot.org/uniprotkb/Q9VXH3" } ], "pmid": "" }, { "name": "border follicle cell migration", "id": "GO:0007298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007298", "evidence": [ { "database": "UniProtKB", "id": "Q9VXH3", "url": "https://www.uniprot.org/uniprotkb/Q9VXH3" } ], "pmid": "" }, { "name": "negative regulation of crystal cell differentiation", "id": "GO:0042690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042690", "evidence": [ { "database": "UniProtKB", "id": "Q9VXH3", "url": "https://www.uniprot.org/uniprotkb/Q9VXH3" } ], "pmid": "" }, { "name": "negative regulation of R7 cell differentiation", "id": "GO:0045677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045677", "evidence": [ { "database": "UniProtKB", "id": "Q9VXH3", "url": "https://www.uniprot.org/uniprotkb/Q9VXH3" } ], "pmid": "" }, { "name": "negative regulation of sevenless signaling pathway", "id": "GO:0045873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045873", "evidence": [ { "database": "UniProtKB", "id": "Q9VXH3", "url": "https://www.uniprot.org/uniprotkb/Q9VXH3" } ], "pmid": "" } ], "cellular_component": [ { "name": "ruffle membrane", "id": "GO:0032587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032587", "evidence": [ { "database": "UniProtKB", "id": "Q9VXH3", "url": "https://www.uniprot.org/uniprotkb/Q9VXH3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VXK5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VXK5", "url": "https://www.uniprot.org/uniprotkb/Q9VXK5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", 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"reference_species": "Drosophila melanogaster [7227]" } ], "length": 428, "chemical_mass": 45022.0, "gene_names": "tth;CG12175;Dmel\\CG12175;Dmel_CG12175;anon-EST:fe2G7;tth", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VYA9", "url": "https://www.uniprot.org/uniprotkb/Q9VYA9" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9VYA9", "url": "https://www.uniprot.org/uniprotkb/Q9VYA9" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9VYA9", "url": "https://www.uniprot.org/uniprotkb/Q9VYA9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VYG4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VYG4", "url": "https://www.uniprot.org/uniprotkb/Q9VYG4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 236, "chemical_mass": 26906.0, "gene_names": "Dmel\\CG4318;CG4318;Dmel\\CG4318;Dmel_CG4318", "protein_name": "", "disease": [], "molecular_function": [ { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q9VYG4", "url": "https://www.uniprot.org/uniprotkb/Q9VYG4" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": 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"id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "Q9VYI4", "url": "https://www.uniprot.org/uniprotkb/Q9VYI4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VYI6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VYI6", "url": "https://www.uniprot.org/uniprotkb/Q9VYI6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 661, "chemical_mass": 74473.0, "gene_names": "Coq8;4;Adck4;CG32649;CG4410;Coq8;Dmel\\CG32649;Dmel_CG32649;dADCK3/4;dcoq8", "protein_name": "", "disease": [ { "disease_id": "DOID:0050730", "name": "coenzyme Q10 deficiency disease", "description": "A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced 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The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage.", "url": "https://disease-ontology.org/term/DOID:1024", "evidence": [ { "id": "1024", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1024" } ], "weight": 0.0 }, { "disease_id": "DOID:10286", "name": "prostate carcinoma", "description": "A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:10286", "evidence": [ { "id": "10286", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10286" } ], "weight": 0.0 }, { "disease_id": "DOID:10320", "name": "asbestosis", "description": "A pneumoconiosis caused by inhalation and retention of asbestos fibers.", "url": "https://disease-ontology.org/term/DOID:10320", "evidence": [ { "id": "10320", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10320" } ], "weight": 0.0 }, { "disease_id": "DOID:10325", "name": "silicosis", "description": "A pneumoconiosis that is an inflammation and scarring of the upper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles.", "url": "https://disease-ontology.org/term/DOID:10325", "evidence": [ { "id": "10325", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10325" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:11335", "name": "sarcoidosis", "description": "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.", "url": "https://disease-ontology.org/term/DOID:11335", "evidence": [ { "id": "11335", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11335" } ], "weight": 0.0 }, { "disease_id": "DOID:11650", "name": "bronchopulmonary dysplasia", "description": "A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.", "url": "https://disease-ontology.org/term/DOID:11650", "evidence": [ { "id": "11650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ], "weight": 0.0 }, { "disease_id": "DOID:1205", "name": "allergic disease", "description": "An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods.", "url": "https://disease-ontology.org/term/DOID:1205", "evidence": [ { "id": "1205", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1205" } ], "weight": 0.0 }, { "disease_id": "DOID:13375", "name": "temporal arteritis", "description": "A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head.", "url": "https://disease-ontology.org/term/DOID:13375", "evidence": [ { "id": "13375", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13375" } ], "weight": 0.0 }, { "disease_id": "DOID:13406", "name": "pulmonary sarcoidosis", "description": "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.", "url": "https://disease-ontology.org/term/DOID:13406", "evidence": [ { "id": "13406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13406" } ], "weight": 0.0 }, { "disease_id": "DOID:13564", "name": "aspergillosis", "description": "An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system.", "url": "https://disease-ontology.org/term/DOID:13564", "evidence": [ { "id": "13564", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13564" } ], "weight": 0.0 }, { "disease_id": "DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus.", "url": "https://disease-ontology.org/term/DOID:1380", "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:1508", "name": "candidiasis", "description": "An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. Systemic Candida infections are usually confined to severely immunocompromised persons.", "url": "https://disease-ontology.org/term/DOID:1508", "evidence": [ { "id": "1508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1508" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.", "url": "https://disease-ontology.org/term/DOID:1909", "evidence": [ { "id": "1909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ], "weight": 0.0 }, { "disease_id": "DOID:1926", "name": "Gaucher's disease", "description": "A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver.", "url": "https://disease-ontology.org/term/DOID:1926", "evidence": [ { "id": "1926", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1926" } ], "weight": 0.0 }, { "disease_id": "DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID:2378", "name": "relapsing-remitting multiple sclerosis", "description": "A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles.", "url": "https://disease-ontology.org/term/DOID:2378", "evidence": [ { "id": "2378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2378" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:3068", "name": "glioblastoma", "description": "A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.", "url": "https://disease-ontology.org/term/DOID:3068", "evidence": [ { "id": "3068", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3068" } ], "weight": 0.0 }, { "disease_id": "DOID:3082", "name": "interstitial lung disease", "description": "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough.", "url": "https://disease-ontology.org/term/DOID:3082", "evidence": [ { "id": "3082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3082" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3371", "name": "chondrosarcoma", "description": "A bone sarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage.", "url": "https://disease-ontology.org/term/DOID:3371", "evidence": [ { "id": "3371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3371" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:399", "name": "tuberculosis", "description": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.", "url": "https://disease-ontology.org/term/DOID:399", "evidence": [ { "id": "399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:399" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:4481", "name": "allergic rhinitis", "description": "A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.", "url": "https://disease-ontology.org/term/DOID:4481", "evidence": [ { "id": "4481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4481" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:8869", "name": "neuromyelitis optica", "description": "A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis).", "url": "https://disease-ontology.org/term/DOID:8869", "evidence": [ { "id": "8869", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8869" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9360", "name": "intrinsic asthma", "description": "A chronic asthma that is triggered by factors not attributable to allergies.", "url": "https://disease-ontology.org/term/DOID:9360", "evidence": [ { "id": "9360", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9360" } ], "weight": 0.0 }, { "disease_id": "DOID:9415", "name": "allergic asthma", "description": "An extrinsic asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. The disease has_symptom coughing, has_symptom wheezing, has_symptom shortness of breath or has_symptom rapid breathing, and has_symptom chest tightness.", "url": "https://disease-ontology.org/term/DOID:9415", "evidence": [ { "id": "9415", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9415" } ], "weight": 0.0 }, { "disease_id": "DOID:9470", "name": "bacterial meningitis", "description": "A meningitis that has_material_basis_in a bacterial infection.", "url": "https://disease-ontology.org/term/DOID:9470", "evidence": [ { "id": "9470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9470" } ], "weight": 0.0 }, { "disease_id": "DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID:9563", "name": "bronchiectasis", "description": "A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances.", "url": "https://disease-ontology.org/term/DOID:9563", "evidence": [ { "id": "9563", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9563" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9VZV2", "url": "https://www.uniprot.org/uniprotkb/Q9VZV2" } ], "pmid": "" } ], "biological_process": [ { "name": "carbohydrate metabolic process", "id": "GO:0005975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005975", "evidence": [ { "database": "UniProtKB", "id": "Q9VZV2", "url": "https://www.uniprot.org/uniprotkb/Q9VZV2" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "Q9VZV2", "url": "https://www.uniprot.org/uniprotkb/Q9VZV2" } ], "pmid": "" }, { "name": "chitin catabolic process", "id": "GO:0006032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006032", "evidence": [ { "database": "UniProtKB", "id": "Q9VZV2", "url": "https://www.uniprot.org/uniprotkb/Q9VZV2" } ], "pmid": "" }, { "name": "regulation of tube architecture, open tracheal system", "id": "GO:0035152", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035152", "evidence": [ { "database": "UniProtKB", "id": "Q9VZV2", "url": "https://www.uniprot.org/uniprotkb/Q9VZV2" } ], "pmid": "" }, { "name": "ecdysis, chitin-based cuticle", "id": "GO:0018990", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018990", "evidence": [ { "database": "UniProtKB", "id": "Q9VZV2", "url": "https://www.uniprot.org/uniprotkb/Q9VZV2" } ], "pmid": "" }, { "name": "chitin-based cuticle development", "id": "GO:0040003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040003", "evidence": [ { "database": "UniProtKB", "id": "Q9VZV2", "url": "https://www.uniprot.org/uniprotkb/Q9VZV2" } ], "pmid": "" } ], "molecular_function": [ { "name": "chitinase activity", "id": "GO:0004568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004568", "evidence": [ { "database": "UniProtKB", "id": "Q9VZV2", "url": "https://www.uniprot.org/uniprotkb/Q9VZV2" } ], "pmid": "" }, { "name": "endochitinase activity", "id": "GO:0008843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008843", "evidence": [ { "database": "UniProtKB", "id": "Q9VZV2", "url": "https://www.uniprot.org/uniprotkb/Q9VZV2" } ], "pmid": "" }, { "name": "chitin binding", "id": "GO:0008061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008061", "evidence": [ { "database": "UniProtKB", "id": "Q9VZV2", "url": "https://www.uniprot.org/uniprotkb/Q9VZV2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9VZX0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VZX0", "url": "https://www.uniprot.org/uniprotkb/Q9VZX0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 484, "chemical_mass": 56143.0, "gene_names": "Dmel\\CG9970;CG9970;Dmel\\CG9970;Dmel_CG9970", "protein_name": "BACK domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9W024-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W024", "url": "https://www.uniprot.org/uniprotkb/Q9W024" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 690, "chemical_mass": 77678.0, "gene_names": "Dmel\\CG13801;CG13801;Dmel\\CG13801;Dmel_CG13801", "protein_name": "Citrate transporter-like domain-containing protein", "disease": [ { "disease_id": "DOID:0050632", "name": "oculocutaneous albinism", "description": "A syndrome characterized by abnormal pigmentation of the skin, hair and eyes.", "url": "https://disease-ontology.org/term/DOID:0050632", "evidence": [ { "id": "0050632", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050632" } ], "weight": 0.0 }, { "disease_id": "DOID:0070096", "name": "oculocutaneous albinism type II", "description": "An 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"name": "ubiquitin ligase complex", "id": "GO:0000151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000151", "evidence": [ { "database": "UniProtKB", "id": "Q9W1E5", "url": "https://www.uniprot.org/uniprotkb/Q9W1E5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9W1E9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W1E9", "url": "https://www.uniprot.org/uniprotkb/Q9W1E9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 416, "chemical_mass": 47714.0, "gene_names": "Fmo1;CG3006;DmFMO-1;Dmel\\CG3006;Dmel_CG3006;Dmfmo1;FMO-1;Fmo-1", "protein_name": "Flavin-containing monooxygenase", "disease": [ { "disease_id": "DOID:0080361", "name": "trimethylaminuria", "description": "An inherited metabolic disorder characterized by the inability to break down 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"mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9W1F7", "url": "https://www.uniprot.org/uniprotkb/Q9W1F7" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q9W1F7", "url": "https://www.uniprot.org/uniprotkb/Q9W1F7" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q9W1F7", "url": "https://www.uniprot.org/uniprotkb/Q9W1F7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9W1G7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W1G7", "url": 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"species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W222", "url": "https://www.uniprot.org/uniprotkb/Q9W222" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 147, "chemical_mass": 16889.0, "gene_names": "CG13514;CG13514;CG30196;Dmel\\CG30196;Dmel_CG30196", "protein_name": "LITAF domain-containing protein", "disease": [], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9W222", "url": "https://www.uniprot.org/uniprotkb/Q9W222" } ], "pmid": "" } ], "cellular_component": [ { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q9W222", "url": "https://www.uniprot.org/uniprotkb/Q9W222" } ], "pmid": "" }, { "name": "late 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"protein_name": "Protein TsetseEP domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9W392-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W392", "url": "https://www.uniprot.org/uniprotkb/Q9W392" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 535, "chemical_mass": 58064.0, "gene_names": "CCT2;CCT2;CG7033;Cct2;Dmel\\CG7033;Dmel_CG7033;Q8IRM8_DROME;Q9W392_DROME;SD02216p;TCP-1beta;TCP1-beta;TCP1beta;Tcp1-beta;cct2", "protein_name": "T-complex protein 1 subunit beta", "disease": [ { "disease_id": "DOID:14791", "name": "Leber congenital amaurosis", "description": "A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.", "url": 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"" }, { "name": "ATP-dependent protein folding chaperone", "id": "GO:0140662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140662", "evidence": [ { "database": "UniProtKB", "id": "Q9W392", "url": "https://www.uniprot.org/uniprotkb/Q9W392" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9W392", "url": "https://www.uniprot.org/uniprotkb/Q9W392" } ], "pmid": "" }, { "name": "chaperonin-containing T-complex", "id": "GO:0005832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005832", "evidence": [ { "database": "UniProtKB", "id": "Q9W392", "url": "https://www.uniprot.org/uniprotkb/Q9W392" } ], "pmid": "" } ], "biological_process": [ { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "Q9W392", "url": "https://www.uniprot.org/uniprotkb/Q9W392" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9W397-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W397", "url": "https://www.uniprot.org/uniprotkb/Q9W397" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 602, "chemical_mass": 70104.0, "gene_names": "Dmel\\CG7246;CG7246;Dmel\\CG7246;Dmel_CG7246;UTP6;dUTP6", "protein_name": "U3 small nucleolar RNA-associated protein 6 homolog", "disease": [], "cellular_component": [ { "name": "Pwp2p-containing subcomplex of 90S preribosome", "id": "GO:0034388", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034388", "evidence": [ { "database": "UniProtKB", "id": "Q9W397", "url": "https://www.uniprot.org/uniprotkb/Q9W397" } ], "pmid": "" }, { "name": "small-subunit processome", "id": "GO:0032040", "url": 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7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W3G8", "url": "https://www.uniprot.org/uniprotkb/Q9W3G8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 213, "chemical_mass": 24557.0, "gene_names": "Dmel\\CG15343;CG15343;Dmel\\CG15343;Dmel_CG15343", "protein_name": "pyridoxal 5'-phosphate synthase", "disease": [], "molecular_function": [ { "name": "FMN binding", "id": "GO:0010181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010181", "evidence": [ { "database": "UniProtKB", "id": "Q9W3G8", "url": "https://www.uniprot.org/uniprotkb/Q9W3G8" } ], "pmid": "" }, { "name": "pyridoxamine phosphate oxidase activity", "id": "GO:0004733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004733", "evidence": [ { "database": "UniProtKB", "id": "Q9W3G8", "url": "https://www.uniprot.org/uniprotkb/Q9W3G8" } ], "pmid": "" } ], "biological_process": [ { "name": "pyridoxine biosynthetic process", "id": "GO:0008615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008615", "evidence": [ { "database": "UniProtKB", "id": "Q9W3G8", "url": "https://www.uniprot.org/uniprotkb/Q9W3G8" } ], "pmid": "" }, { "name": "pyridoxal phosphate biosynthetic process", "id": "GO:0042823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042823", "evidence": [ { "database": "UniProtKB", "id": "Q9W3G8", "url": "https://www.uniprot.org/uniprotkb/Q9W3G8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9W3I7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W3I7", "url": "https://www.uniprot.org/uniprotkb/Q9W3I7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 405, "chemical_mass": 45224.0, "gene_names": "Dmel\\CG15337;CG15337;Dmel\\CG15337;Dmel_CG15337", "protein_name": "PARP16 N-terminal domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9W3K6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W3K6", "url": "https://www.uniprot.org/uniprotkb/Q9W3K6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 801, "chemical_mass": 89234.0, "gene_names": "Dmel\\CG2258;CG2258;Dmel\\CG2258;Dmel_CG2258", "protein_name": "SH3 domain-containing protein", "disease": [], "biological_process": [ { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q9W3K6", "url": "https://www.uniprot.org/uniprotkb/Q9W3K6" } ], "pmid": "" } ], "molecular_function": [ { "name": "myosin binding", "id": "GO:0017022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017022", "evidence": [ { "database": "UniProtKB", "id": "Q9W3K6", "url": "https://www.uniprot.org/uniprotkb/Q9W3K6" } ], "pmid": "" }, { "name": "Arp2/3 complex binding", "id": "GO:0071933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071933", "evidence": [ { "database": "UniProtKB", "id": "Q9W3K6", "url": "https://www.uniprot.org/uniprotkb/Q9W3K6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9W3P6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W3P6", "url": "https://www.uniprot.org/uniprotkb/Q9W3P6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 397, "chemical_mass": 44712.0, "gene_names": "Dmel\\CG10920;CG10920;Dmel\\CG10920;Dmel_CG10920", "protein_name": "", "disease": [], "cellular_component": [ { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q9W3P6", "url": "https://www.uniprot.org/uniprotkb/Q9W3P6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9W3P7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W3P7", "url": "https://www.uniprot.org/uniprotkb/Q9W3P7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 333, "chemical_mass": 38233.0, "gene_names": "CARPA;CARPA;CG1402;Dmel\\CG1402;Dmel_CG1402", "protein_name": "", "disease": [ { "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 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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 } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9W3P7", "url": "https://www.uniprot.org/uniprotkb/Q9W3P7" } ], "pmid": "" }, { "name": "hydro-lyase activity", "id": "GO:0016836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016836", "evidence": [ { "database": "UniProtKB", "id": "Q9W3P7", "url": "https://www.uniprot.org/uniprotkb/Q9W3P7" } ], "pmid": "" }, { "name": "carbonate dehydratase activity", "id": "GO:0004089", "url": 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"pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9W3R0", "url": "https://www.uniprot.org/uniprotkb/Q9W3R0" } ], "pmid": "" } ], "biological_process": [ { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q9W3R0", "url": "https://www.uniprot.org/uniprotkb/Q9W3R0" } ], "pmid": "" }, { "name": "sodium ion transport", "id": "GO:0006814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006814", "evidence": [ { "database": "UniProtKB", "id": "Q9W3R0", "url": "https://www.uniprot.org/uniprotkb/Q9W3R0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9W3R1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": 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"pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9W3S8", "url": "https://www.uniprot.org/uniprotkb/Q9W3S8" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9W3S8", "url": "https://www.uniprot.org/uniprotkb/Q9W3S8" } ], "pmid": "" } ], "biological_process": [ { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q9W3S8", "url": "https://www.uniprot.org/uniprotkb/Q9W3S8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "Q9W3T2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", 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cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q9Y162", "url": "https://www.uniprot.org/uniprotkb/Q9Y162" } ], "pmid": "" }, { "name": "positive regulation of epidermal growth factor receptor signaling pathway", "id": "GO:0045742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045742", "evidence": [ { "database": "UniProtKB", "id": "Q9Y162", "url": "https://www.uniprot.org/uniprotkb/Q9Y162" } ], "pmid": "" }, { "name": "endosomal transport", "id": "GO:0016197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016197", "evidence": [ { "database": "UniProtKB", "id": "Q9Y162", "url": "https://www.uniprot.org/uniprotkb/Q9Y162" } ], "pmid": "" }, { "name": "symbiont entry into host cell", "id": "GO:0046718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046718", "evidence": [ { "database": "UniProtKB", "id": "Q9Y162", "url": "https://www.uniprot.org/uniprotkb/Q9Y162" } ], "pmid": "" }, { "name": "vacuole organization", "id": "GO:0007033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007033", "evidence": [ { "database": "UniProtKB", "id": "Q9Y162", "url": "https://www.uniprot.org/uniprotkb/Q9Y162" } ], "pmid": "" }, { "name": "establishment or maintenance of epithelial cell apical/basal polarity", "id": "GO:0045197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045197", "evidence": [ { "database": "UniProtKB", "id": "Q9Y162", "url": "https://www.uniprot.org/uniprotkb/Q9Y162" } ], "pmid": "" }, { "name": "membrane fission", "id": "GO:0090148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090148", "evidence": [ { "database": "UniProtKB", "id": "Q9Y162", "url": "https://www.uniprot.org/uniprotkb/Q9Y162" } ], "pmid": "" }, { "name": "ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway", "id": "GO:0090611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090611", "evidence": [ { "database": "UniProtKB", "id": "Q9Y162", "url": "https://www.uniprot.org/uniprotkb/Q9Y162" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway", "id": "GO:0043162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043162", "evidence": [ { "database": "UniProtKB", "id": "Q9Y162", "url": "https://www.uniprot.org/uniprotkb/Q9Y162" } ], "pmid": "" }, { "name": "R8 cell development", "id": "GO:0045463", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045463", "evidence": [ { "database": "UniProtKB", "id": "Q9Y162", "url": "https://www.uniprot.org/uniprotkb/Q9Y162" } ], "pmid": "" }, { "name": "R8 cell-mediated photoreceptor organization", "id": "GO:0045470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045470", "evidence": [ { "database": "UniProtKB", "id": "Q9Y162", "url": "https://www.uniprot.org/uniprotkb/Q9Y162" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9Y162", "url": "https://www.uniprot.org/uniprotkb/Q9Y162" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q9Y162", "url": "https://www.uniprot.org/uniprotkb/Q9Y162" } ], "pmid": "" }, { "name": "ATP-dependent protein disaggregase activity", "id": "GO:0140545", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140545", "evidence": [ { "database": "UniProtKB", "id": "Q9Y162", "url": "https://www.uniprot.org/uniprotkb/Q9Y162" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9Y162", "url": "https://www.uniprot.org/uniprotkb/Q9Y162" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q9Y162", "url": "https://www.uniprot.org/uniprotkb/Q9Y162" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "Q9Y162", "url": "https://www.uniprot.org/uniprotkb/Q9Y162" } ], "pmid": "" }, { "name": "ESCRT IV complex", "id": "GO:1990621", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990621", "evidence": [ { "database": "UniProtKB", "id": "Q9Y162", "url": "https://www.uniprot.org/uniprotkb/Q9Y162" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "X2J8R6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "X2J8R6", "url": "https://www.uniprot.org/uniprotkb/X2J8R6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 148, "chemical_mass": 17417.0, "gene_names": "Dmel\\CG45413;CG45413;Dmel\\CG45413;Dmel_CG45413", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.13" }, { "uniprot_canonical_ac": "X2J9F6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "X2J9F6", "url": "https://www.uniprot.org/uniprotkb/X2J9F6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 500, "chemical_mass": 57486.0, "gene_names": "Cyp6a16;6a16;CG7249;CR7249;Cyp6a16Psi;Cyp6a16p;Cyp6a16;Dmel\\CG7249;Dmel_CG7249", "protein_name": "", "disease": [ { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0070658", "name": "alcohol-associated liver disease", "description": "A liver disease resulting from excessive alcohol intake.", "url": "https://disease-ontology.org/term/DOID:0070658", "evidence": [ { "id": "0070658", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070658" } ], "weight": 0.0 }, { "disease_id": "DOID:0080630", "name": "B-lymphoblastic leukemia/lymphoma", "description": "A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow.", "url": "https://disease-ontology.org/term/DOID:0080630", "evidence": [ { "id": "0080630", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080630" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10825", "name": "essential hypertension", "description": "A hypertension with no known cause. It is the most common type of hypertension.", "url": "https://disease-ontology.org/term/DOID:10825", "evidence": [ { "id": "10825", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10825" } ], "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:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:2030", "name": "anxiety disorder", "description": "A cognitive disorder that involves an excessive, irrational dread of everyday situations.", "url": "https://disease-ontology.org/term/DOID:2030", "evidence": [ { "id": "2030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2030" } ], "weight": 0.0 }, { "disease_id": "DOID:2987", "name": "familial Mediterranean fever", "description": "An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.", "url": "https://disease-ontology.org/term/DOID:2987", "evidence": [ { "id": "2987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2987" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": 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"https://www.uniprot.org/uniprotkb/Q9W3A0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 103, "chemical_mass": 11688.0, "gene_names": "BcDNA:HL08157;BcDNA:HL08157;CG10970;Dmel\\CG10970;Dmel_CG10970", "protein_name": "Acylphosphatase-like domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9W3B3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W3B3", "url": "https://www.uniprot.org/uniprotkb/Q9W3B3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 277, "chemical_mass": 30895.0, "gene_names": "Uros1;CG1885;Dmel\\CG1885;Dmel_CG1885;Uros1", "protein_name": "Uroporphyrinogen-III synthase", "disease": [ { "disease_id": "DOID:13270", "name": "erythropoietic protoporphyria", "description": "An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue.", "url": "https://disease-ontology.org/term/DOID:13270", "evidence": [ { "id": "13270", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13270" } ], "weight": 0.0 }, { "disease_id": "DOID:13271", "name": "cutaneous porphyria", "description": "", "url": "https://disease-ontology.org/term/DOID:13271", "evidence": [ { "id": "13271", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13271" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9W3B3", "url": "https://www.uniprot.org/uniprotkb/Q9W3B3" } ], "pmid": "" } ], "biological_process": [ { "name": "heme biosynthetic process", "id": "GO:0006783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006783", "evidence": [ { "database": "UniProtKB", "id": "Q9W3B3", "url": "https://www.uniprot.org/uniprotkb/Q9W3B3" } ], "pmid": "" }, { "name": "protoporphyrinogen IX biosynthetic process", "id": "GO:0006782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006782", "evidence": [ { "database": "UniProtKB", "id": "Q9W3B3", "url": "https://www.uniprot.org/uniprotkb/Q9W3B3" } ], "pmid": "" }, { "name": "uroporphyrinogen III biosynthetic process", "id": "GO:0006780", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006780", "evidence": [ { "database": "UniProtKB", "id": "Q9W3B3", "url": "https://www.uniprot.org/uniprotkb/Q9W3B3" } ], "pmid": "" }, { "name": "heme B biosynthetic process", "id": "GO:0006785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006785", "evidence": [ { "database": "UniProtKB", "id": "Q9W3B3", "url": "https://www.uniprot.org/uniprotkb/Q9W3B3" } ], "pmid": "" } ], "molecular_function": [ { "name": "uroporphyrinogen-III synthase activity", "id": "GO:0004852", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004852", "evidence": [ { "database": "UniProtKB", "id": "Q9W3B3", "url": "https://www.uniprot.org/uniprotkb/Q9W3B3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9W3C8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W3C8", "url": "https://www.uniprot.org/uniprotkb/Q9W3C8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 250, "chemical_mass": 28804.0, "gene_names": "CAH3;CAH3;CG11284;CG11285;Dmel\\CG11284;Dmel_CG11284", "protein_name": "", "disease": [ { "disease_id": "DOID:0051065", "name": "chronic pancreatitis", "description": "A pancreatitis that is characterized by long-term inflamation of the pancreas.", "url": "https://disease-ontology.org/term/DOID:0051065", "evidence": [ { "id": "0051065", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051065" } ], "weight": 0.0 }, { "disease_id": "DOID:0060180", "name": "colitis", "description": "An inflammatory bowel disease that involves inflammation located_in colon.", "url": "https://disease-ontology.org/term/DOID:0060180", "evidence": [ { "id": "0060180", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060180" } ], "weight": 0.0 }, { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. 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:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:0070658", "name": "alcohol-associated liver disease", "description": "A liver disease resulting from excessive alcohol intake.", "url": "https://disease-ontology.org/term/DOID:0070658", "evidence": [ { "id": "0070658", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070658" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0081120", "name": "Graves ophthalmopathy", "description": "An autoimmune disease of eyes, ear, nose and throat that is characterized by upper eyelid retraction, lid lag, swelling, redness, conjunctivitis, and bulging eyes.", "url": "https://disease-ontology.org/term/DOID:0081120", "evidence": [ { "id": "0081120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081120" } ], "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:12528", "name": "lesion of sciatic nerve", "description": "", "url": "https://disease-ontology.org/term/DOID:12528", "evidence": [ { "id": "12528", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12528" } ], "weight": 0.0 }, { "disease_id": "DOID:12894", "name": "Sjogren's syndrome", "description": "An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.", "url": "https://disease-ontology.org/term/DOID:12894", "evidence": [ { "id": "12894", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12894" } ], "weight": 0.0 }, { "disease_id": "DOID:1884", "name": "viral hepatitis", "description": "A hepatitis that involves viral infection causing inflammation of the liver.", "url": "https://disease-ontology.org/term/DOID:1884", "evidence": [ { "id": "1884", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1884" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and 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"GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9W3C8", "url": "https://www.uniprot.org/uniprotkb/Q9W3C8" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9W3C8", "url": "https://www.uniprot.org/uniprotkb/Q9W3C8" } ], "pmid": "" }, { "name": "carbonate dehydratase activity", "id": "GO:0004089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004089", "evidence": [ { "database": "UniProtKB", "id": "Q9W3C8", "url": "https://www.uniprot.org/uniprotkb/Q9W3C8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9W3F1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W3F1", "url": "https://www.uniprot.org/uniprotkb/Q9W3F1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 273, "chemical_mass": 31013.0, "gene_names": "144701_at;144701_at;CG12116;Dmel\\CG12116;Dmel_CG12116", "protein_name": "Sepiapterin reductase", "disease": [ { "disease_id": "DOID:0111168", "name": "sepiapterin reductase deficiency", "description": "A dystonia characterized by sustained muscle contractions with diurnal fluctuations, axial hypotonia, oculogyric crises, delays in motor and cognitive development and severe dopamine and serotonin deficiencies that has_material_basis_in mutation in the SPR gene on chromosome 2p resulting in sepiapterin reductase deficiency.", "url": "https://disease-ontology.org/term/DOID:0111168", "evidence": [ { "id": "0111168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111168" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that 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"start_aa": "Thr", "end_pos": 225, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr225", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9W3H0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W3H0", "url": "https://www.uniprot.org/uniprotkb/Q9W3H0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1056, "chemical_mass": 117927.0, "gene_names": "SPH198;CG1632;Dmel\\CG1632;Dmel_CG1632;SPH198", "protein_name": "Atrial natriuretic peptide-converting enzyme", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9W3H0", "url": "https://www.uniprot.org/uniprotkb/Q9W3H0" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q9W3H0", "url": "https://www.uniprot.org/uniprotkb/Q9W3H0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9W3H0-1", "start_pos": "1031", "end_pos": "1031", "site_lbl": "Thr1031", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1031, "start_aa": "Thr", "end_pos": 1031, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1031", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] }, { "uniprot_canonical_ac": "Q9W3H0-1", "start_pos": "456", "end_pos": "456", "site_lbl": "Thr456", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 456, "start_aa": "Thr", "end_pos": 456, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr456", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9W3H4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W3H4", "url": "https://www.uniprot.org/uniprotkb/Q9W3H4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila 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] } ] } ], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9W4E5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W4E5", "url": "https://www.uniprot.org/uniprotkb/Q9W4E5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 422, "chemical_mass": 46793.0, "gene_names": "Dmel\\CG15465;CG15465;Dmel\\CG15465;Dmel_CG15465", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9W4E6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W4E6", "url": "https://www.uniprot.org/uniprotkb/Q9W4E6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 324, "chemical_mass": 36472.0, "gene_names": 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} ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9W4W8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W4W8", "url": "https://www.uniprot.org/uniprotkb/Q9W4W8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 819, "chemical_mass": 90082.0, "gene_names": "Spg7;CG2658;Dm100G10.aj;Dmel\\CG2658;Dmel_CG2658;EG:100G10.7;SPG7;Spg7;anon-3Ba", "protein_name": "", "disease": [ { "disease_id": "DOID:0110816", "name": "hereditary spastic paraplegia 7", "description": "A hereditary spastic paraplegia that is characterized by slowly progressive onset, usually between 18-60 years of age, and generally more severe spasticity and has_material_basis_in mutation in the SPG7 gene on chromosome 16q24.", "url": "https://disease-ontology.org/term/DOID:0110816", 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"Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9XYW6", "url": "https://www.uniprot.org/uniprotkb/Q9XYW6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 289, "chemical_mass": 33864.0, "gene_names": "STUB1;CG5203;CHIP;Chip;Dmel\\CG5203;Dmel_CG5203;STUB1;Stub1;dCHIP", "protein_name": "E3 ubiquitin-protein ligase CHIP", "disease": [ { "disease_id": "DOID:0080029", "name": "autosomal recessive spinocerebellar ataxia 16", "description": "An autosomal recessive cerebellar ataxia that is characterized by truncal and limb ataxia resulting in gait instability and that has_material_basis_in homozygous or compound heterozygous mutation in the STUB1 gene on chromosome 16p13.", "url": "https://disease-ontology.org/term/DOID:0080029", "evidence": [ { "id": "0080029", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080029" } ], "weight": 0.0 }, { 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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 } ], "molecular_function": [ { "name": "TPR domain binding", "id": "GO:0030911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030911", "evidence": [ { "database": "UniProtKB", "id": "Q9XYW6", "url": "https://www.uniprot.org/uniprotkb/Q9XYW6" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "Q9XYW6", "url": "https://www.uniprot.org/uniprotkb/Q9XYW6" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q9XYW6", "url": "https://www.uniprot.org/uniprotkb/Q9XYW6" } ], "pmid": "" }, { "name": "Hsp90 protein binding", "id": "GO:0051879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051879", "evidence": [ { "database": "UniProtKB", "id": "Q9XYW6", "url": "https://www.uniprot.org/uniprotkb/Q9XYW6" } ], "pmid": "" }, { "name": "Hsp70 protein binding", "id": "GO:0030544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030544", "evidence": [ { "database": "UniProtKB", "id": "Q9XYW6", "url": "https://www.uniprot.org/uniprotkb/Q9XYW6" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of glucocorticoid metabolic process", "id": "GO:0031943", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031943", "evidence": [ { "database": "UniProtKB", "id": "Q9XYW6", "url": "https://www.uniprot.org/uniprotkb/Q9XYW6" } ], "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": "Q9XYW6", "url": "https://www.uniprot.org/uniprotkb/Q9XYW6" } ], "pmid": "" }, { "name": "proteasome-mediated ubiquitin-dependent protein catabolic process", "id": "GO:0043161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043161", "evidence": [ { "database": "UniProtKB", "id": "Q9XYW6", "url": "https://www.uniprot.org/uniprotkb/Q9XYW6" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q9XYW6", "url": "https://www.uniprot.org/uniprotkb/Q9XYW6" } ], "pmid": "" }, { "name": "positive regulation of protein ubiquitination", "id": "GO:0031398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031398", "evidence": [ { "database": "UniProtKB", "id": "Q9XYW6", "url": "https://www.uniprot.org/uniprotkb/Q9XYW6" } ], "pmid": "" }, { "name": "protein polyubiquitination", "id": "GO:0000209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000209", "evidence": [ { "database": "UniProtKB", "id": "Q9XYW6", "url": "https://www.uniprot.org/uniprotkb/Q9XYW6" } ], "pmid": "" }, { "name": "positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032436", "evidence": [ { "database": "UniProtKB", "id": "Q9XYW6", "url": "https://www.uniprot.org/uniprotkb/Q9XYW6" } ], "pmid": "" }, { "name": "positive regulation of proteolysis", "id": "GO:0045862", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045862", "evidence": [ { "database": "UniProtKB", "id": "Q9XYW6", "url": "https://www.uniprot.org/uniprotkb/Q9XYW6" } ], "pmid": "" }, { "name": "protein quality control for misfolded or incompletely synthesized proteins", "id": "GO:0006515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006515", "evidence": [ { "database": "UniProtKB", "id": "Q9XYW6", "url": "https://www.uniprot.org/uniprotkb/Q9XYW6" } ], "pmid": "" }, { "name": "cellular response to misfolded protein", "id": "GO:0071218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071218", "evidence": [ { "database": "UniProtKB", "id": "Q9XYW6", "url": "https://www.uniprot.org/uniprotkb/Q9XYW6" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9XYW6", "url": "https://www.uniprot.org/uniprotkb/Q9XYW6" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "Q9XYW6", "url": "https://www.uniprot.org/uniprotkb/Q9XYW6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9XZ32-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9XZ32", "url": "https://www.uniprot.org/uniprotkb/Q9XZ32" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1398, "chemical_mass": 156646.0, "gene_names": "BcDNA:LD22087;Dmel\\CG10254;BcDNA:LD22087;CG10254;Dmel\\CG10254;Dmel_CG10254", "protein_name": "UBC core domain-containing protein", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9XZ32", "url": "https://www.uniprot.org/uniprotkb/Q9XZ32" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9XZ32", "url": "https://www.uniprot.org/uniprotkb/Q9XZ32" } ], "pmid": "" } ], "biological_process": [ { "name": "retrograde transport, endosome to Golgi", "id": "GO:0042147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042147", "evidence": [ { "database": "UniProtKB", "id": "Q9XZ32", "url": "https://www.uniprot.org/uniprotkb/Q9XZ32" } ], "pmid": "" }, { "name": "protein monoubiquitination", "id": "GO:0006513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006513", "evidence": [ { "database": "UniProtKB", "id": "Q9XZ32", "url": "https://www.uniprot.org/uniprotkb/Q9XZ32" } ], "pmid": "" } ], "molecular_function": [ { "name": "ubiquitin conjugating enzyme activity", "id": "GO:0061631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061631", "evidence": [ { "database": "UniProtKB", "id": "Q9XZ32", "url": "https://www.uniprot.org/uniprotkb/Q9XZ32" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9XZ32-1", "start_pos": "14", "end_pos": "14", "site_lbl": "Thr14", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 14, "start_aa": "Thr", "end_pos": 14, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr14", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9XZS4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9XZS4", "url": "https://www.uniprot.org/uniprotkb/Q9XZS4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 158, "chemical_mass": 17741.0, "gene_names": "Dmel\\CG4325;CG4325;Dmel\\CG4325;Dmel_CG4325;EG:22E5.12", "protein_name": "RING-type domain-containing protein", "disease": [], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9XZS4", "url": "https://www.uniprot.org/uniprotkb/Q9XZS4" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q9XZS4", "url": "https://www.uniprot.org/uniprotkb/Q9XZS4" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q9XZS4", "url": "https://www.uniprot.org/uniprotkb/Q9XZS4" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q9XZS4", "url": "https://www.uniprot.org/uniprotkb/Q9XZS4" } ], "pmid": "" }, { "name": "positive regulation of antibacterial peptide biosynthetic process", "id": "GO:0006963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006963", "evidence": [ { "database": "UniProtKB", "id": "Q9XZS4", "url": "https://www.uniprot.org/uniprotkb/Q9XZS4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9XZS9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9XZS9", "url": "https://www.uniprot.org/uniprotkb/Q9XZS9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 861, "chemical_mass": 96596.0, "gene_names": "cg11403;CG11403;Chl1;Dmel\\CG11403;Dmel_CG11403;EG:33C11.2;cg11403", "protein_name": "DNA 5'-3' helicase", "disease": [ { "disease_id": "DOID:0060535", "name": "Warsaw breakage syndrome", "description": "A syndrome mainly characterized by severe congenital microcephaly, growth restriction, and sensorineural hearing loss due to cochlear hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11.", "url": "https://disease-ontology.org/term/DOID:0060535", "evidence": [ { "id": "0060535", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060535" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9XZS9", "url": "https://www.uniprot.org/uniprotkb/Q9XZS9" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9XZS9", "url": "https://www.uniprot.org/uniprotkb/Q9XZS9" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9XZS9", "url": "https://www.uniprot.org/uniprotkb/Q9XZS9" } ], "pmid": "" }, { "name": "helicase activity", "id": "GO:0004386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004386", "evidence": [ { "database": "UniProtKB", "id": "Q9XZS9", "url": "https://www.uniprot.org/uniprotkb/Q9XZS9" } ], "pmid": "" }, { "name": "DNA helicase activity", "id": "GO:0003678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003678", "evidence": [ { "database": "UniProtKB", "id": "Q9XZS9", "url": "https://www.uniprot.org/uniprotkb/Q9XZS9" } ], "pmid": "" }, { "name": "5'-3' DNA helicase activity", "id": "GO:0043139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043139", "evidence": [ { "database": "UniProtKB", "id": "Q9XZS9", "url": "https://www.uniprot.org/uniprotkb/Q9XZS9" } ], "pmid": "" }, { "name": "hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides", "id": "GO:0016818", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016818", "evidence": [ { "database": "UniProtKB", "id": "Q9XZS9", "url": "https://www.uniprot.org/uniprotkb/Q9XZS9" } ], "pmid": "" }, { "name": "iron-sulfur cluster binding", "id": "GO:0051536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051536", "evidence": [ { "database": "UniProtKB", "id": "Q9XZS9", "url": "https://www.uniprot.org/uniprotkb/Q9XZS9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9XZS9", "url": "https://www.uniprot.org/uniprotkb/Q9XZS9" } ], "pmid": "" } ], "biological_process": [ { "name": "nucleobase-containing compound metabolic process", "id": "GO:0006139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006139", "evidence": [ { "database": "UniProtKB", "id": "Q9XZS9", "url": "https://www.uniprot.org/uniprotkb/Q9XZS9" } ], "pmid": "" }, { "name": "establishment of sister chromatid cohesion", "id": "GO:0034085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034085", "evidence": [ { "database": "UniProtKB", "id": "Q9XZS9", "url": "https://www.uniprot.org/uniprotkb/Q9XZS9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9XZU0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9XZU0", "url": "https://www.uniprot.org/uniprotkb/Q9XZU0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 357, "chemical_mass": 39335.0, "gene_names": "Pph13;60Mun1;CG2819;Dmel\\CG2819;Dmel_CG2819;Mu;PPH13;Pph13;hazy;pph13", "protein_name": "", "disease": [ { "disease_id": "DOID:0060285", "name": "parietal foramina", "description": "An inherited neural tube defect that is characterized by enlarged openings in the parietal bones of the skull, has_material_basis_in mutation in the ALX4 gene or MSX2 gene.", "url": "https://disease-ontology.org/term/DOID:0060285", "evidence": [ { "id": "0060285", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060285" } ], "weight": 0.0 }, { "disease_id": "DOID:0081045", "name": "frontonasal dysplasia 1", "description": "A frontonasal dysplasia that is characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline, and has_material_basis_in homozygous mutation in the aristaless-like homeobox-3 gene (ALX3) on chromosome 1p13.", "url": "https://disease-ontology.org/term/DOID:0081045", "evidence": [ { "id": "0081045", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081045" } ], "weight": 0.0 }, { "disease_id": "DOID:0081046", "name": "frontonasal dysplasia 2", "description": "A frontonasal dysplasia that has_material_basis_in homozygous mutation in the ALX4 gene on chromosome 11p11.", "url": "https://disease-ontology.org/term/DOID:0081046", "evidence": [ { "id": "0081046", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081046" } ], "weight": 0.0 }, { "disease_id": "DOID:0081047", "name": "frontonasal dysplasia 3", "description": "A frontonasal dysplasia that has_material_basis_in homozygous mutation in the ALX1 gene on chromosome 12q21.", "url": "https://disease-ontology.org/term/DOID:0081047", "evidence": [ { "id": "0081047", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081047" } ], "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:2340", "name": "craniosynostosis", "description": "A synostosis that results_in premature fusion located_in skull.", "url": "https://disease-ontology.org/term/DOID:2340", "evidence": [ { "id": "2340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2340" } ], "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: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: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: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: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 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9XZU0", "url": "https://www.uniprot.org/uniprotkb/Q9XZU0" } ], "pmid": "" } ], "biological_process": [ { "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": "Q9XZU0", "url": "https://www.uniprot.org/uniprotkb/Q9XZU0" } ], "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": "Q9XZU0", "url": "https://www.uniprot.org/uniprotkb/Q9XZU0" } ], "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": "Q9XZU0", "url": "https://www.uniprot.org/uniprotkb/Q9XZU0" } ], "pmid": "" }, { "name": "neuron development", "id": "GO:0048666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048666", "evidence": [ { "database": "UniProtKB", "id": "Q9XZU0", "url": "https://www.uniprot.org/uniprotkb/Q9XZU0" } ], "pmid": "" }, { "name": "photoreceptor cell development", "id": "GO:0042461", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042461", "evidence": [ { "database": "UniProtKB", "id": "Q9XZU0", "url": "https://www.uniprot.org/uniprotkb/Q9XZU0" } ], "pmid": "" }, { "name": "ocellus photoreceptor cell development", "id": "GO:0042463", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042463", "evidence": [ { "database": "UniProtKB", "id": "Q9XZU0", "url": "https://www.uniprot.org/uniprotkb/Q9XZU0" } ], "pmid": "" }, { "name": "compound eye photoreceptor development", "id": "GO:0042051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042051", "evidence": [ { "database": "UniProtKB", "id": "Q9XZU0", "url": "https://www.uniprot.org/uniprotkb/Q9XZU0" } ], "pmid": "" }, { "name": "rhabdomere development", "id": "GO:0042052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042052", "evidence": [ { "database": "UniProtKB", "id": "Q9XZU0", "url": "https://www.uniprot.org/uniprotkb/Q9XZU0" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q9XZU0", "url": "https://www.uniprot.org/uniprotkb/Q9XZU0" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulatory region sequence-specific DNA binding", "id": "GO:0000977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000977", "evidence": [ { "database": "UniProtKB", "id": "Q9XZU0", "url": "https://www.uniprot.org/uniprotkb/Q9XZU0" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q9XZU0", "url": "https://www.uniprot.org/uniprotkb/Q9XZU0" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "Q9XZU0", "url": "https://www.uniprot.org/uniprotkb/Q9XZU0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9Y112-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9Y112", "url": "https://www.uniprot.org/uniprotkb/Q9Y112" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 316, "chemical_mass": 36312.0, "gene_names": "Ar3;AKR2E3;Akr2E3;BcDNA:GH10614;CG10863;Dmel\\CG10863;Dmel_CG10863;dm1/AKR2E3", "protein_name": "NADP-dependent oxidoreductase domain-containing protein", "disease": [ { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0060074", "name": "ductal carcinoma in situ", "description": "A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:0060074", "evidence": [ { "id": "0060074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060074" } ], "weight": 0.0 }, { "disease_id": "DOID:0080630", "name": "B-lymphoblastic leukemia/lymphoma", "description": "A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow.", "url": "https://disease-ontology.org/term/DOID:0080630", "evidence": [ { "id": "0080630", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080630" } ], "weight": 0.0 }, { "disease_id": "DOID:0080909", "name": "castration-resistant prostate carcinoma", "description": "A prostate carcinoma that is characterized by continued growth and spread despite the surgical removal of the testes or medical intervention to block androgen production.", "url": "https://disease-ontology.org/term/DOID:0080909", "evidence": [ { "id": "0080909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080909" } ], "weight": 0.0 }, { "disease_id": "DOID:0111069", "name": "congenital bile acid synthesis defect 2", "description": "A congenital bile acid synthesis defect characterized by rapid progession of severe cholestatic liver disease, decreased levels of chenodeoxycholic acid and cholic acid in the serum and urine, and malabsorption of fat and fat-soluble vitamins that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1D1 gene on chromosome 7q33.", "url": "https://disease-ontology.org/term/DOID:0111069", "evidence": [ { "id": "0111069", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111069" } ], "weight": 0.0 }, { "disease_id": "DOID:0111773", "name": "46,XY sex reversal 8", "description": "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1C2 gene on chromosome 10p15.1.", "url": "https://disease-ontology.org/term/DOID:0111773", "evidence": [ { "id": "0111773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111773" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1240", "name": "leukemia", "description": "A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.", "url": "https://disease-ontology.org/term/DOID:1240", "evidence": [ { "id": "1240", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1240" } ], "weight": 0.0 }, { "disease_id": "DOID:5603", "name": "T-cell acute lymphoblastic leukemia", "description": "An acute lymphoblastic leukemia that is characterized by too many T-cell lymphoblasts found in the bone marrow and blood.", "url": "https://disease-ontology.org/term/DOID:5603", "evidence": [ { "id": "5603", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5603" } ], "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": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9Y112", "url": "https://www.uniprot.org/uniprotkb/Q9Y112" } ], "pmid": "" } ], "molecular_function": [ { "name": "aldose reductase (NADPH) activity", "id": "GO:0004032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004032", "evidence": [ { "database": "UniProtKB", "id": "Q9Y112", "url": "https://www.uniprot.org/uniprotkb/Q9Y112" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor", "id": "GO:0016616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016616", "evidence": [ { "database": "UniProtKB", "id": "Q9Y112", "url": "https://www.uniprot.org/uniprotkb/Q9Y112" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9Y125-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9Y125", "url": "https://www.uniprot.org/uniprotkb/Q9Y125" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 953, "chemical_mass": 105963.0, "gene_names": "Sap-r;Apa;BcDNA:GH08312;CG12070;DAPA;Dmel\\CG12070;Dmel_CG12070;Ov9;P110;Sap-R;Sap-r;Sapr;anon-EST:ParkEST270;sap-r", "protein_name": "", "disease": [ { "disease_id": "DOID:0050848", "name": "obstructive sleep apnea", "description": "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.", "url": "https://disease-ontology.org/term/DOID:0050848", "evidence": [ { "id": "0050848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050848" } ], "weight": 0.0 }, { "disease_id": "DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age.", "url": "https://disease-ontology.org/term/DOID:0060892", "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ], "weight": 0.0 }, { "disease_id": "DOID:0110961", "name": "atypical Gaucher's disease due to saposin c deficiency", "description": "A Gaucher's disease that has_material_basis_in compound heterozygous mutation in the PSAP gene on chromosome 10q22.1.", "url": "https://disease-ontology.org/term/DOID:0110961", "evidence": [ { "id": "0110961", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110961" } ], "weight": 0.0 }, { "disease_id": "DOID:0111330", "name": "combined saposin deficiency", "description": "A sphingolipidosis characterized by absence of expression of both isoforms of PSAP (SAP1 and SAP2) resulting in hepatosplenomegaly and severe neurological disease that has_material_basis_in homozygous or compound heterozygous mutation in PSAP on 10q22.1.", "url": "https://disease-ontology.org/term/DOID:0111330", "evidence": [ { "id": "0111330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111330" } ], "weight": 0.0 }, { "disease_id": "DOID:10581", "name": "metachromatic leukodystrophy", "description": "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.", "url": "https://disease-ontology.org/term/DOID:10581", "evidence": [ { "id": "10581", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10581" } ], "weight": 0.0 }, { "disease_id": "DOID:10587", "name": "Krabbe disease", "description": "", "url": "https://disease-ontology.org/term/DOID:10587", "evidence": [ { "id": "10587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10587" } ], "weight": 0.0 }, { "disease_id": "DOID:11162", "name": "respiratory failure", "description": "A lung disease characterized by inadequate gas exchange by the respiratory system.", "url": "https://disease-ontology.org/term/DOID:11162", "evidence": [ { "id": "11162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11162" } ], "weight": 0.0 }, { "disease_id": "DOID:11394", "name": "adult respiratory distress syndrome", "description": "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia.", "url": "https://disease-ontology.org/term/DOID:11394", "evidence": [ { "id": "11394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11394" } ], "weight": 0.0 }, { "disease_id": "DOID:11650", "name": "bronchopulmonary dysplasia", "description": "A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.", "url": "https://disease-ontology.org/term/DOID:11650", "evidence": [ { "id": "11650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ], "weight": 0.0 }, { "disease_id": "DOID:12120", "name": "pulmonary alveolar proteinosis", "description": "A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange.", "url": "https://disease-ontology.org/term/DOID:12120", "evidence": [ { "id": "12120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12120" } ], "weight": 0.0 }, { "disease_id": "DOID:12716", "name": "newborn respiratory distress syndrome", "description": "A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts.", "url": "https://disease-ontology.org/term/DOID:12716", "evidence": [ { "id": "12716", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12716" } ], "weight": 0.0 }, { "disease_id": "DOID:1273", "name": "respiratory syncytial virus infectious disease", "description": "A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus (Orthopneumovirus hominis), which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress.", "url": "https://disease-ontology.org/term/DOID:1273", "evidence": [ { "id": "1273", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1273" } ], "weight": 0.0 }, { "disease_id": "DOID: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:14115", "name": "toxic shock syndrome", "description": "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.", "url": "https://disease-ontology.org/term/DOID:14115", "evidence": [ { "id": "14115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3082", "name": "interstitial lung disease", "description": "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough.", "url": "https://disease-ontology.org/term/DOID:3082", "evidence": [ { "id": "3082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3082" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3907", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell.", "url": "https://disease-ontology.org/term/DOID:3907", "evidence": [ { "id": "3907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3907" } ], "weight": 0.0 }, { "disease_id": "DOID: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:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:874", "name": "bacterial pneumonia", "description": "A pneumonia involving inflammation of the lungs caused by bacteria.", "url": "https://disease-ontology.org/term/DOID:874", "evidence": [ { "id": "874", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:874" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9Y125", "url": "https://www.uniprot.org/uniprotkb/Q9Y125" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9Y125", "url": "https://www.uniprot.org/uniprotkb/Q9Y125" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q9Y125", "url": "https://www.uniprot.org/uniprotkb/Q9Y125" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "Q9Y125", "url": "https://www.uniprot.org/uniprotkb/Q9Y125" } ], "pmid": "" }, { "name": "autophagosome", "id": "GO:0005776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005776", "evidence": [ { "database": "UniProtKB", "id": "Q9Y125", "url": "https://www.uniprot.org/uniprotkb/Q9Y125" } ], "pmid": "" }, { "name": "fusome", "id": "GO:0045169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045169", "evidence": [ { "database": "UniProtKB", "id": "Q9Y125", "url": "https://www.uniprot.org/uniprotkb/Q9Y125" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9Y125", "url": "https://www.uniprot.org/uniprotkb/Q9Y125" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid homeostasis", "id": "GO:0055088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055088", "evidence": [ { "database": "UniProtKB", "id": "Q9Y125", "url": "https://www.uniprot.org/uniprotkb/Q9Y125" } ], "pmid": "" }, { "name": "sphingolipid metabolic process", "id": "GO:0006665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006665", "evidence": [ { "database": "UniProtKB", "id": "Q9Y125", "url": "https://www.uniprot.org/uniprotkb/Q9Y125" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "R9PY35-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "R9PY35", "url": "https://www.uniprot.org/uniprotkb/R9PY35" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 345, "chemical_mass": 39688.0, "gene_names": "CG34406;CG18555;CG34406-2;CG34406;CG44002;Dmel\\CG44002;Dmel_CG44002", "protein_name": "", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "R9PY35", "url": "https://www.uniprot.org/uniprotkb/R9PY35" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "R9PY35", "url": "https://www.uniprot.org/uniprotkb/R9PY35" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "R9PY35", "url": "https://www.uniprot.org/uniprotkb/R9PY35" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "R9PY35", "url": "https://www.uniprot.org/uniprotkb/R9PY35" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "R9PY35", "url": "https://www.uniprot.org/uniprotkb/R9PY35" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "R9PY62-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "R9PY62", "url": "https://www.uniprot.org/uniprotkb/R9PY62" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1249, "chemical_mass": 136562.0, "gene_names": "GramD1B;BcDNA:RE58243;CG15411;CG3304;CG34394;Dmel\\CG34394;Dmel_CG34394;GramD1B", "protein_name": "", "disease": [], "biological_process": [ { "name": "intracellular sterol transport", "id": "GO:0032366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032366", "evidence": [ { "database": "UniProtKB", "id": "R9PY62", "url": "https://www.uniprot.org/uniprotkb/R9PY62" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "R9PY62", "url": "https://www.uniprot.org/uniprotkb/R9PY62" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "R9PY62", "url": "https://www.uniprot.org/uniprotkb/R9PY62" } ], "pmid": "" }, { "name": "endoplasmic reticulum-plasma membrane contact site", "id": "GO:0140268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140268", "evidence": [ { "database": "UniProtKB", "id": "R9PY62", "url": "https://www.uniprot.org/uniprotkb/R9PY62" } ], "pmid": "" }, { "name": "organelle membrane contact site", "id": "GO:0044232", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044232", "evidence": [ { "database": "UniProtKB", "id": "R9PY62", "url": "https://www.uniprot.org/uniprotkb/R9PY62" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "R9PY62", "url": "https://www.uniprot.org/uniprotkb/R9PY62" } ], "pmid": "" } ], "molecular_function": [ { "name": "sterol binding", "id": "GO:0032934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032934", "evidence": [ { "database": "UniProtKB", "id": "R9PY62", "url": "https://www.uniprot.org/uniprotkb/R9PY62" } ], "pmid": "" }, { "name": "sterol transfer activity", "id": "GO:0120015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120015", "evidence": [ { "database": "UniProtKB", "id": "R9PY62", "url": "https://www.uniprot.org/uniprotkb/R9PY62" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "V9HVU8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "V9HVU8", "url": "https://www.uniprot.org/uniprotkb/V9HVU8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 199, "chemical_mass": 22849.0, "gene_names": "Dmel\\CG18545;CG18545-PA;CG18545;Dmel\\CG18545;Dmel_CG18545", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "X2JD93-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "X2JD93", "url": "https://www.uniprot.org/uniprotkb/X2JD93" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 90, "chemical_mass": 10544.0, "gene_names": "COX6CL;BcDNA:AT20031;CG31644;COX6CL;Dmel\\CG31644;Dmel_CG31644", "protein_name": "", "disease": [], "cellular_component": [ { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "X2JD93", "url": "https://www.uniprot.org/uniprotkb/X2JD93" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "X2JD93", "url": "https://www.uniprot.org/uniprotkb/X2JD93" } ], "pmid": "" }, { "name": "respiratory chain complex IV", "id": "GO:0045277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045277", "evidence": [ { "database": "UniProtKB", "id": "X2JD93", "url": "https://www.uniprot.org/uniprotkb/X2JD93" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial electron transport, cytochrome c to oxygen", "id": "GO:0006123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006123", "evidence": [ { "database": "UniProtKB", "id": "X2JD93", "url": "https://www.uniprot.org/uniprotkb/X2JD93" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "X2J7Z6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "X2J7Z6", "url": "https://www.uniprot.org/uniprotkb/X2J7Z6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 65, "chemical_mass": 7293.0, "gene_names": "Dmel\\CG45012;CG45012;Dmel\\CG45012;Dmel_CG45012", "protein_name": "Kazal-like domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "X2JBU2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "X2JBU2", "url": "https://www.uniprot.org/uniprotkb/X2JBU2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 213, "chemical_mass": 23339.0, "gene_names": "BcDNA:AT01764;Dmel\\CG14414;BcDNA:AT01764;CG14414;Dmel\\CG14414;Dmel_CG14414;cg14414", "protein_name": "Probable RNA-binding protein 18", "disease": [], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "X2JBU2", "url": "https://www.uniprot.org/uniprotkb/X2JBU2" } ], "pmid": "" }, { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "X2JBU2", "url": "https://www.uniprot.org/uniprotkb/X2JBU2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "A1Z9X0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1Z9X0", "url": "https://www.uniprot.org/uniprotkb/A1Z9X0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 606, "chemical_mass": 69556.0, "gene_names": "aPKC;CG10261;CG30475;CG42783;DaPKC;Dmel\\CG42783;Dmel_CG42783;PKCl;PKCzeta;PKC;a-PKC;aPKC zeta;aPKC-zeta;aPKCzeta;aPKC;aPkc;alphaPKCzeta;alphaPKC;apkc;daPKC;dapkc;i;l(2)k06403;pkc-3;psu", "protein_name": "Atypical protein kinase C", "disease": [ { "disease_id": "DOID:0060611", "name": "abdominal obesity-metabolic syndrome", "description": "A syndrome that is characterized by abdominal obesity, blood lipid disorders, inflammation, insulin resistance or full-blown diabetes, and increased risk of developing cardiovascular disease.", "url": "https://disease-ontology.org/term/DOID:0060611", "evidence": [ { "id": "0060611", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060611" } ], "weight": 0.0 }, { "disease_id": "DOID:3008", "name": "invasive ductal carcinoma", "description": "A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated.", "url": "https://disease-ontology.org/term/DOID:3008", "evidence": [ { "id": "3008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3008" } ], "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:4001", "name": "ovarian carcinoma", "description": "An ovarian cancer that has_material_basis_in epithelial tissue and is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:4001", "evidence": [ { "id": "4001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4001" } ], "weight": 0.0 }, { "disease_id": "DOID:4195", "name": "hyperglycemia", "description": "", "url": "https://disease-ontology.org/term/DOID:4195", "evidence": [ { "id": "4195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4195" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "biological_process": [ { "name": "positive regulation of smoothened signaling pathway", "id": "GO:0045880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045880", "evidence": [ { "database": "UniProtKB", "id": "A1Z9X0", "url": "https://www.uniprot.org/uniprotkb/A1Z9X0" } ], "pmid": "" }, { "name": "exocyst localization", "id": "GO:0051601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051601", "evidence": [ { "database": "UniProtKB", "id": "A1Z9X0", "url": "https://www.uniprot.org/uniprotkb/A1Z9X0" } ], "pmid": "" }, { "name": "establishment or maintenance of polarity of embryonic epithelium", "id": "GO:0016332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016332", "evidence": [ { "database": "UniProtKB", "id": "A1Z9X0", "url": "https://www.uniprot.org/uniprotkb/A1Z9X0" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "A1Z9X0", "url": "https://www.uniprot.org/uniprotkb/A1Z9X0" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "A1Z9X0", "url": "https://www.uniprot.org/uniprotkb/A1Z9X0" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "A1Z9X0", "url": "https://www.uniprot.org/uniprotkb/A1Z9X0" } ], "pmid": "" }, { "name": "establishment of epithelial cell apical/basal polarity", "id": "GO:0045198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045198", "evidence": [ { "database": "UniProtKB", "id": "A1Z9X0", "url": "https://www.uniprot.org/uniprotkb/A1Z9X0" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "A1Z9X0", "url": "https://www.uniprot.org/uniprotkb/A1Z9X0" } ], "pmid": "" }, { "name": "synapse assembly", "id": 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"cellular_component": [ { "name": "apical cortex", "id": "GO:0045179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045179", "evidence": [ { "database": "UniProtKB", "id": "A2VEY9", "url": "https://www.uniprot.org/uniprotkb/A2VEY9" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "A2VEY9", "url": "https://www.uniprot.org/uniprotkb/A2VEY9" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "A2VEY9", "url": "https://www.uniprot.org/uniprotkb/A2VEY9" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "A2VEY9", "url": "https://www.uniprot.org/uniprotkb/A2VEY9" } ], "pmid": "" }, { "name": "apical plasma 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"evidence": [ { "database": "UniProtKB", "id": "A3RLR1", "url": "https://www.uniprot.org/uniprotkb/A3RLR1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 32, "chemical_mass": 3855.0, "gene_names": "tal-AA;CG42387;Dm4;Dm_3R:52381;Dmel\\CG42387;ORF AA;ORF4;Pep4;pri;tal-AA;tal", "protein_name": "Peptide tarsal-less AA", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A3RLR1", "url": "https://www.uniprot.org/uniprotkb/A3RLR1" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A3RLR1", "url": "https://www.uniprot.org/uniprotkb/A3RLR1" } ], "pmid": "" } ], "biological_process": [ { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "A3RLR1", "url": "https://www.uniprot.org/uniprotkb/A3RLR1" } ], "pmid": "" }, { "name": "morphogenesis of an epithelium", "id": "GO:0002009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002009", "evidence": [ { "database": "UniProtKB", "id": "A3RLR1", "url": "https://www.uniprot.org/uniprotkb/A3RLR1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "O61267-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "O61267", "url": "https://www.uniprot.org/uniprotkb/O61267" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 476, "chemical_mass": 54261.0, "gene_names": "lok;10895;38B.4;CG10895;CHK-2;CHK2;Chk2;DChk2;DmCHk2;DmChk2;Dmchk2;Dmel\\CG10895;Dmel_CG10895;Dmnk-L;Dmnk-S;Dmnk/DChk2;Dmnk;LOKI/CHK2;Loki;Lok;MNK;Mnk;chk-2;chk2/lok;chk2;chk;loki;lok;mnk", "protein_name": "Ovarian-specific serine/threonine-protein kinase Lok", "disease": [ { "disease_id": "DOID:0050671", "name": "female breast cancer", "description": "A breast cancer that develops from breast tissue in females.", "url": "https://disease-ontology.org/term/DOID:0050671", "evidence": [ { "id": "0050671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050671" } ], "weight": 0.0 }, { "disease_id": "DOID:0111504", "name": "Li-Fraumeni syndrome 2", "description": "A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the CHEK2 gene on chromosome 22q12.1.", "url": "https://disease-ontology.org/term/DOID:0111504", "evidence": [ { "id": "0111504", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111504" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:1614", "name": "male breast cancer", "description": "A breast cancer that occurs in males.", "url": "https://disease-ontology.org/term/DOID:1614", "evidence": [ { "id": "1614", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1614" } ], "weight": 0.0 }, { "disease_id": "DOID:3308", "name": "embryonal carcinoma", "description": "An embryonal cancer that is a type of germ cell tumour that is located_in the ovaries or located_in the testes.", "url": "https://disease-ontology.org/term/DOID:3308", "evidence": [ { "id": "3308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3308" } ], "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. 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"id": "GO:0007281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007281", "evidence": [ { "database": "UniProtKB", "id": "O61267", "url": "https://www.uniprot.org/uniprotkb/O61267" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway by p53 class mediator", "id": "GO:0072332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072332", "evidence": [ { "database": "UniProtKB", "id": "O61267", "url": "https://www.uniprot.org/uniprotkb/O61267" } ], "pmid": "" }, { "name": "ectopic germ cell programmed cell death", "id": "GO:0035234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035234", "evidence": [ { "database": "UniProtKB", "id": "O61267", "url": "https://www.uniprot.org/uniprotkb/O61267" } ], "pmid": "" }, { "name": "DNA damage checkpoint signaling", "id": "GO:0000077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000077", "evidence": [ { "database": "UniProtKB", "id": "O61267", "url": "https://www.uniprot.org/uniprotkb/O61267" } ], "pmid": "" }, { "name": "cellular 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"uniprot_canonical_ac": "A8JNV4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A8JNV4", "url": "https://www.uniprot.org/uniprotkb/A8JNV4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 144, "chemical_mass": 16070.0, "gene_names": "Blos3;BLOS3;Blos3;CG34255;Dm Blos3;Dmel\\CG34255;NP_001097640;blos3", "protein_name": "Biogenesis of lysosome-related organelles complex 1 subunit 3", "disease": [ { "disease_id": "DOID:0060546", "name": "Hermansky-Pudlak syndrome 8", "description": "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the BLOC1S3 gene on chromosome 19q13.", "url": "https://disease-ontology.org/term/DOID:0060546", "evidence": [ { "id": "0060546", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060546" } ], "weight": 0.0 } ], "biological_process": [ { "name": "eye pigment 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This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. 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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 } ], "molecular_function": [ { "name": "scavenger receptor activity", "id": "GO:0005044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005044", "evidence": [ { "database": "UniProtKB", "id": "B7Z031", "url": "https://www.uniprot.org/uniprotkb/B7Z031" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "B7Z031", "url": "https://www.uniprot.org/uniprotkb/B7Z031" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "B7Z031", "url": "https://www.uniprot.org/uniprotkb/B7Z031" } ], "pmid": "" } ], 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213, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn213", "evidence": [ { "id": "B7Z031", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/B7Z031#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-ProRule", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ] }, { "uniprot_canonical_ac": "B7Z031-1", "start_pos": "242", "end_pos": "242", "site_lbl": "Asn242", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 242, "start_aa": "Asn", "end_pos": 242, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn242", "evidence": [ { "id": "B7Z031", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/B7Z031#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-ProRule", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ] }, { "uniprot_canonical_ac": "B7Z031-1", "start_pos": "312", "end_pos": "312", "site_lbl": "Asn312", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 312, "start_aa": "Asn", "end_pos": 312, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn312", "evidence": [ { "id": "B7Z031", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/B7Z031#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-ProRule", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ] }, { "uniprot_canonical_ac": "B7Z031-1", "start_pos": "342", "end_pos": "342", "site_lbl": "Asn342", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 342, "start_aa": "Asn", "end_pos": 342, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn342", "evidence": [ { "id": "B7Z031", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/B7Z031#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-ProRule", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ] }, { "uniprot_canonical_ac": "B7Z031-1", "start_pos": "70", "end_pos": "70", "site_lbl": "Asn70", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 70, "start_aa": "Asn", "end_pos": 70, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn70", "evidence": [ { "id": "B7Z031", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/B7Z031#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-ProRule", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ] } ], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "B7Z0I7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "B7Z0I7", "url": "https://www.uniprot.org/uniprotkb/B7Z0I7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 351, "chemical_mass": 41504.0, "gene_names": "Snup;CG1247;CG32297;CG42303;Dmel\\CG42303;Snup;dSNUP", "protein_name": "Snurportin-1", "disease": [ { "disease_id": "DOID:0061134", "name": "autosomal recessive limb-girdle muscular dystrophy type 29", "description": "An autosomal recessive limb-girdle muscular dystrophy characterized by onset of muscle weakness predominantly affecting the proximal lower limbs, although upper limb involvement also occurs that has_material_basis_in homozygous or compound heterozygous mutation in the SNUPN gene on chromosome 15q24.", "url": "https://disease-ontology.org/term/DOID:0061134", "evidence": [ { "id": "0061134", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061134" } ], "weight": 0.0 }, { "disease_id": "DOID:0110274", "name": "autosomal recessive limb-girdle muscular dystrophy", "description": "A limb-girdle muscular dystrophy has_material_basis_in autosomal recessive inheritance.", "url": "https://disease-ontology.org/term/DOID:0110274", "evidence": [ { "id": "0110274", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110274" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "U4 snRNA binding", "id": "GO:0030621", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030621", "evidence": [ { "database": "UniProtKB", "id": "B7Z0I7", "url": "https://www.uniprot.org/uniprotkb/B7Z0I7" } ], "pmid": "" }, { "name": "U2 snRNA binding", "id": "GO:0030620", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030620", "evidence": [ { "database": "UniProtKB", "id": "B7Z0I7", "url": "https://www.uniprot.org/uniprotkb/B7Z0I7" } ], "pmid": "" }, { "name": "U1 snRNA binding", "id": "GO:0030619", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030619", "evidence": [ { "database": "UniProtKB", "id": "B7Z0I7", "url": "https://www.uniprot.org/uniprotkb/B7Z0I7" } ], "pmid": "" } ], "biological_process": [ { "name": "snRNA import into nucleus", "id": "GO:0061015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061015", "evidence": [ { "database": "UniProtKB", "id": "B7Z0I7", "url": "https://www.uniprot.org/uniprotkb/B7Z0I7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "B7Z0I7", "url": "https://www.uniprot.org/uniprotkb/B7Z0I7" } ], "pmid": "" }, { "name": "Cajal body", "id": "GO:0015030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015030", "evidence": [ { "database": "UniProtKB", "id": "B7Z0I7", "url": "https://www.uniprot.org/uniprotkb/B7Z0I7" } ], "pmid": "" }, { "name": "cytoplasmic U snRNP body", "id": "GO:0071254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071254", "evidence": [ { "database": "UniProtKB", "id": "B7Z0I7", "url": "https://www.uniprot.org/uniprotkb/B7Z0I7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "O18400-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "O18400", "url": "https://www.uniprot.org/uniprotkb/O18400" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 509, "chemical_mass": 53217.0, "gene_names": "Ptx1;CG1447;D-Ptx1;Dmel\\CG1447;Dmel_CG1447;Ptx1;Ptx;ptx1", "protein_name": "Pituitary homeobox homolog Ptx1", "disease": [ { "disease_id": "DOID:0050647", "name": "Arts syndrome", "description": "An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene.", "url": "https://disease-ontology.org/term/DOID:0050647", "evidence": [ { "id": "0050647", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050647" } ], "weight": 0.0 }, { "disease_id": "DOID:0060648", "name": "anterior segment dysgenesis", "description": "An eye disease that is characterized by iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface and is located_in the anterior segment of the eye.", "url": "https://disease-ontology.org/term/DOID:0060648", "evidence": [ { "id": "0060648", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060648" } ], "weight": 0.0 }, { "disease_id": "DOID:0080606", "name": "anterior segment dysgenesis 1", "description": "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24.", "url": "https://disease-ontology.org/term/DOID:0080606", "evidence": [ { "id": "0080606", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080606" } ], "weight": 0.0 }, { "disease_id": "DOID:0080609", "name": "anterior segment dysgenesis 4", "description": "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PITX2 gene on chromosome 4q25.", "url": "https://disease-ontology.org/term/DOID:0080609", "evidence": [ { "id": "0080609", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080609" } ], "weight": 0.0 }, { "disease_id": "DOID:0110120", "name": "Axenfeld-Rieger syndrome type 1", "description": "An Axenfeld-Rieger syndrome characterized by abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals that has_material_basis_in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25.", "url": "https://disease-ontology.org/term/DOID:0110120", "evidence": [ { "id": "0110120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110120" } ], "weight": 0.0 }, { "disease_id": "DOID:0110249", "name": "cataract 11 multiple types", "description": "A cataract that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24.", "url": "https://disease-ontology.org/term/DOID:0110249", "evidence": [ { "id": "0110249", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110249" } ], "weight": 0.0 }, { "disease_id": "DOID:0110266", "name": "cataract 9 multiple types", "description": "A cataract that has_material_basis_in autosomal recessive or autosomal dominant inheritance of heterozygous or homozygous mutation in the CRYAA gene, which encodes alpha-A-crystallin, on chromosome 21q22.", "url": "https://disease-ontology.org/term/DOID:0110266", "evidence": [ { "id": "0110266", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110266" } ], "weight": 0.0 }, { "disease_id": "DOID:0111548", "name": "ring dermoid of cornea", "description": "A corneal disease characterized by annular limbal dermoids with corneal and conjunctival extension that has_material_basis_in heterozygous mutation in the PITX2 gene on chromosome 4q25.", "url": "https://disease-ontology.org/term/DOID:0111548", "evidence": [ { "id": "0111548", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111548" } ], "weight": 0.0 }, { "disease_id": "DOID:11836", "name": "clubfoot", "description": "A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities.", "url": "https://disease-ontology.org/term/DOID:11836", "evidence": [ { "id": "11836", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11836" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:1459", "evidence": [ { "id": "1459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ], "weight": 0.0 }, { "disease_id": "DOID:14686", "name": "Axenfeld-Rieger syndrome", "description": "An eye disease characterized by anterior segment ocular dysgenesis in addition to systemic abnormalities such as dental, cardiac, craniofacial, and abdominal wall defects.", "url": "https://disease-ontology.org/term/DOID:14686", "evidence": [ { "id": "14686", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14686" } ], "weight": 0.0 }, { "disease_id": "DOID:1686", "name": "glaucoma", "description": "An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its 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"https://www.alliancegenome.org/disease/DOID:898" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "O18400", "url": "https://www.uniprot.org/uniprotkb/O18400" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "O18400", "url": "https://www.uniprot.org/uniprotkb/O18400" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "O18400", "url": "https://www.uniprot.org/uniprotkb/O18400" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": 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Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "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: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:2945", "name": "severe acute respiratory syndrome", "description": "A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Severe acute respiratory syndrome coronavirus (SARS-CoV or SARS-CoV-1), a subtype of Betacoronavirus pandemicum, which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "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:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3669", "name": "intermittent claudication", "description": "", "url": "https://disease-ontology.org/term/DOID:3669", "evidence": [ { "id": "3669", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3669" } ], "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:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix.", "url": "https://disease-ontology.org/term/DOID:4362", "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas.", "url": "https://disease-ontology.org/term/DOID:4989", "evidence": [ { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" } ], "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:5295", "name": "intestinal disease", "description": "A gastrointestinal system disease that is located_in the intestine.", "url": "https://disease-ontology.org/term/DOID:5295", "evidence": [ { "id": "5295", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5295" } ], "weight": 0.0 }, { "disease_id": "DOID:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:557", "evidence": [ { "id": "557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:557" } ], "weight": 0.0 }, { "disease_id": "DOID:5679", "name": "retinal disease", "description": "An eye disease that is located_in the retina.", "url": "https://disease-ontology.org/term/DOID:5679", "evidence": [ { "id": "5679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5679" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", "evidence": [ { "id": "7693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ], "weight": 0.0 }, { "disease_id": "DOID:7998", "name": "hyperthyroidism", "description": "A thyroid gland disease that involves an over production of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:7998", "evidence": [ { "id": "7998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7998" } ], "weight": 0.0 }, { "disease_id": "DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.", "url": "https://disease-ontology.org/term/DOID:83", "evidence": [ { "id": "83", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:83" } ], "weight": 0.0 }, { "disease_id": "DOID: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": 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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9408", "name": "acute myocardial infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:9408", "evidence": [ { "id": "9408", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9408" } ], "weight": 0.0 }, { "disease_id": "DOID:9743", "name": "diabetic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:9743", "evidence": [ { "id": "9743", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9743" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O01382", "url": "https://www.uniprot.org/uniprotkb/O01382" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O01382", "url": "https://www.uniprot.org/uniprotkb/O01382" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O01382", "url": "https://www.uniprot.org/uniprotkb/O01382" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "O01382", "url": "https://www.uniprot.org/uniprotkb/O01382" } ], "pmid": "" }, { "name": "neuron remodeling", "id": "GO:0016322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016322", "evidence": [ { "database": "UniProtKB", "id": "O01382", "url": "https://www.uniprot.org/uniprotkb/O01382" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "O01382", "url": "https://www.uniprot.org/uniprotkb/O01382" } ], "pmid": "" }, { "name": "execution phase of apoptosis", "id": "GO:0097194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097194", "evidence": [ { "database": "UniProtKB", "id": "O01382", "url": "https://www.uniprot.org/uniprotkb/O01382" } ], "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": "O01382", "url": 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"https://www.uniprot.org/uniprotkb/O01382" } ], "pmid": "" }, { "name": "negative regulation of Toll signaling pathway", "id": "GO:0045751", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045751", "evidence": [ { "database": "UniProtKB", "id": "O01382", "url": "https://www.uniprot.org/uniprotkb/O01382" } ], "pmid": "" }, { "name": "salivary gland histolysis", "id": "GO:0035070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035070", "evidence": [ { "database": "UniProtKB", "id": "O01382", "url": "https://www.uniprot.org/uniprotkb/O01382" } ], "pmid": "" }, { "name": "nurse cell apoptotic process", "id": "GO:0045476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045476", "evidence": [ { "database": "UniProtKB", "id": "O01382", "url": "https://www.uniprot.org/uniprotkb/O01382" } ], "pmid": "" }, { "name": "compound eye retinal cell programmed cell death", "id": "GO:0046667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046667", "evidence": [ { "database": "UniProtKB", "id": 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"https://www.uniprot.org/uniprotkb/O18335" } ], "pmid": "" }, { "name": "Rab protein signal transduction", "id": "GO:0032482", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032482", "evidence": [ { "database": "UniProtKB", "id": "O18335", "url": "https://www.uniprot.org/uniprotkb/O18335" } ], "pmid": "" }, { "name": "oocyte development", "id": "GO:0048599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048599", "evidence": [ { "database": "UniProtKB", "id": "O18335", "url": "https://www.uniprot.org/uniprotkb/O18335" } ], "pmid": "" }, { "name": "centrosome localization", "id": "GO:0051642", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051642", "evidence": [ { "database": "UniProtKB", "id": "O18335", "url": "https://www.uniprot.org/uniprotkb/O18335" } ], "pmid": "" }, { "name": "regulation of synapse organization", "id": "GO:0050807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050807", "evidence": [ { "database": "UniProtKB", "id": "O18335", "url": "https://www.uniprot.org/uniprotkb/O18335" } ], "pmid": "" }, { "name": "synaptic vesicle endocytosis", "id": "GO:0048488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048488", "evidence": [ { "database": "UniProtKB", "id": "O18335", "url": "https://www.uniprot.org/uniprotkb/O18335" } ], "pmid": "" }, { "name": "actomyosin contractile ring contraction", "id": "GO:0000916", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000916", "evidence": [ { "database": "UniProtKB", "id": "O18335", "url": "https://www.uniprot.org/uniprotkb/O18335" } ], "pmid": "" }, { "name": "germ-line stem cell population maintenance", "id": "GO:0030718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030718", "evidence": [ { "database": "UniProtKB", "id": "O18335", "url": "https://www.uniprot.org/uniprotkb/O18335" } ], "pmid": "" }, { "name": "spermatocyte division", "id": "GO:0048137", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048137", "evidence": [ { "database": "UniProtKB", "id": "O18335", "url": "https://www.uniprot.org/uniprotkb/O18335" } ], "pmid": "" }, { "name": "male meiosis cytokinesis", "id": "GO:0007112", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007112", "evidence": [ { "database": "UniProtKB", "id": "O18335", "url": "https://www.uniprot.org/uniprotkb/O18335" } ], "pmid": "" }, { "name": "ovarian fusome organization", "id": "GO:0030723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030723", "evidence": [ { "database": "UniProtKB", "id": "O18335", "url": "https://www.uniprot.org/uniprotkb/O18335" } ], "pmid": "" }, { "name": "fusome organization", "id": "GO:0045478", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045478", "evidence": [ { "database": "UniProtKB", "id": "O18335", "url": "https://www.uniprot.org/uniprotkb/O18335" } ], "pmid": "" }, { "name": "compound eye morphogenesis", "id": "GO:0001745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001745", "evidence": [ { "database": "UniProtKB", "id": "O18335", "url": "https://www.uniprot.org/uniprotkb/O18335" } ], "pmid": "" }, { "name": "border follicle cell migration", "id": "GO:0007298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007298", "evidence": [ { "database": "UniProtKB", "id": "O18335", "url": "https://www.uniprot.org/uniprotkb/O18335" } ], "pmid": "" }, { "name": "regulation of pole plasm oskar mRNA localization", "id": "GO:0007317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007317", "evidence": [ { "database": "UniProtKB", "id": "O18335", "url": "https://www.uniprot.org/uniprotkb/O18335" } ], "pmid": "" }, { "name": "cellularization", "id": "GO:0007349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007349", "evidence": [ { "database": "UniProtKB", "id": "O18335", "url": "https://www.uniprot.org/uniprotkb/O18335" } ], "pmid": "" }, { "name": "dorsal closure", "id": "GO:0007391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007391", "evidence": [ { "database": "UniProtKB", "id": "O18335", "url": "https://www.uniprot.org/uniprotkb/O18335" } ], "pmid": "" }, { "name": "dorsal closure, elongation of leading edge cells", "id": "GO:0007394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007394", "evidence": [ { "database": "UniProtKB", "id": "O18335", "url": "https://www.uniprot.org/uniprotkb/O18335" } ], "pmid": "" }, { "name": "oocyte microtubule cytoskeleton polarization", "id": "GO:0008103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008103", "evidence": [ { "database": "UniProtKB", "id": "O18335", "url": "https://www.uniprot.org/uniprotkb/O18335" } ], "pmid": "" }, { "name": "sensory organ precursor cell fate determination", "id": "GO:0016360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016360", "evidence": [ { "database": "UniProtKB", "id": "O18335", "url": "https://www.uniprot.org/uniprotkb/O18335" } ], "pmid": "" }, { "name": "chaeta development", "id": "GO:0022416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022416", "evidence": [ { "database": "UniProtKB", "id": "O18335", "url": "https://www.uniprot.org/uniprotkb/O18335" } ], "pmid": "" }, { "name": "follicle cell of egg chamber development", "id": "GO:0030707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030707", "evidence": [ { "database": "UniProtKB", "id": "O18335", "url": "https://www.uniprot.org/uniprotkb/O18335" } ], "pmid": "" }, { "name": "liquid clearance, open tracheal system", "id": "GO:0035002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035002", "evidence": [ { "database": "UniProtKB", "id": "O18335", "url": "https://www.uniprot.org/uniprotkb/O18335" } ], "pmid": "" }, { "name": "rhabdomere development", "id": "GO:0042052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042052", "evidence": [ { "database": "UniProtKB", "id": "O18335", "url": "https://www.uniprot.org/uniprotkb/O18335" } ], "pmid": "" }, { "name": "germ-line stem cell division", "id": "GO:0042078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042078", "evidence": [ { "database": "UniProtKB", "id": "O18335", "url": "https://www.uniprot.org/uniprotkb/O18335" } ], "pmid": "" }, { "name": "dorsal closure, amnioserosa morphology change", "id": "GO:0046664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046664", "evidence": [ { "database": "UniProtKB", "id": "O18335", "url": "https://www.uniprot.org/uniprotkb/O18335" } ], "pmid": "" }, { "name": "antimicrobial peptide secretion", "id": "GO:0002776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002776", "evidence": [ { "database": "UniProtKB", "id": "O18335", "url": "https://www.uniprot.org/uniprotkb/O18335" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "O18335", "url": "https://www.uniprot.org/uniprotkb/O18335" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "O18335", "url": "https://www.uniprot.org/uniprotkb/O18335" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "O18335", "url": "https://www.uniprot.org/uniprotkb/O18335" } ], "pmid": "" }, { "name": "GTPase activating protein binding", "id": "GO:0032794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032794", "evidence": [ { "database": "UniProtKB", "id": "O18335", "url": "https://www.uniprot.org/uniprotkb/O18335" } ], "pmid": "" } ], "cellular_component": [ { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "O18335", "url": "https://www.uniprot.org/uniprotkb/O18335" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O18335", "url": "https://www.uniprot.org/uniprotkb/O18335" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "O18335", "url": "https://www.uniprot.org/uniprotkb/O18335" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "O18335", "url": "https://www.uniprot.org/uniprotkb/O18335" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O18335", "url": "https://www.uniprot.org/uniprotkb/O18335" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "O18335", "url": "https://www.uniprot.org/uniprotkb/O18335" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "O18335", "url": "https://www.uniprot.org/uniprotkb/O18335" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "O18335", "url": "https://www.uniprot.org/uniprotkb/O18335" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "O18335", "url": "https://www.uniprot.org/uniprotkb/O18335" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "O18335", "url": "https://www.uniprot.org/uniprotkb/O18335" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0007435", "evidence": [ { "database": "UniProtKB", "id": "P10040", "url": "https://www.uniprot.org/uniprotkb/P10040" } ], "pmid": "" }, { "name": "trachea development", "id": "GO:0060438", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060438", "evidence": [ { "database": "UniProtKB", "id": "P10040", "url": "https://www.uniprot.org/uniprotkb/P10040" } ], "pmid": "" }, { "name": "apical constriction", "id": "GO:0003383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003383", "evidence": [ { "database": "UniProtKB", "id": "P10040", "url": "https://www.uniprot.org/uniprotkb/P10040" } ], "pmid": "" }, { "name": "zonula adherens maintenance", "id": "GO:0045218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045218", "evidence": [ { "database": "UniProtKB", "id": "P10040", "url": "https://www.uniprot.org/uniprotkb/P10040" } ], "pmid": "" }, { "name": "establishment or maintenance of epithelial cell apical/basal polarity", "id": "GO:0045197", "url": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045176", "evidence": [ { "database": "UniProtKB", "id": "P10040", "url": "https://www.uniprot.org/uniprotkb/P10040" } ], "pmid": "" }, { "name": "nuclear chromosome segregation", "id": "GO:0098813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098813", "evidence": [ { "database": "UniProtKB", "id": "P10040", "url": "https://www.uniprot.org/uniprotkb/P10040" } ], "pmid": "" }, { "name": "establishment or maintenance of polarity of follicular epithelium", "id": "GO:0016334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016334", "evidence": [ { "database": "UniProtKB", "id": "P10040", "url": "https://www.uniprot.org/uniprotkb/P10040" } ], "pmid": "" }, { "name": "rhabdomere morphogenesis", "id": "GO:0061541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061541", "evidence": [ { "database": "UniProtKB", "id": "P10040", "url": "https://www.uniprot.org/uniprotkb/P10040" } ], "pmid": "" }, { "name": "cell morphogenesis involved in Malpighian tubule morphogenesis", "id": "GO:0061336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061336", "evidence": [ { "database": "UniProtKB", "id": "P10040", "url": "https://www.uniprot.org/uniprotkb/P10040" } ], "pmid": "" }, { "name": "assembly of apicomedial cortex actomyosin", "id": "GO:0106036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106036", "evidence": [ { "database": "UniProtKB", "id": "P10040", "url": "https://www.uniprot.org/uniprotkb/P10040" } ], "pmid": "" }, { "name": "compound eye morphogenesis", "id": "GO:0001745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001745", "evidence": [ { "database": "UniProtKB", "id": "P10040", "url": "https://www.uniprot.org/uniprotkb/P10040" } ], "pmid": "" }, { "name": "dorsal closure", "id": "GO:0007391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007391", "evidence": [ { "database": "UniProtKB", "id": "P10040", "url": "https://www.uniprot.org/uniprotkb/P10040" } ], "pmid": "" }, { "name": "open tracheal system development", "id": "GO:0007424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007424", "evidence": [ { "database": "UniProtKB", "id": "P10040", "url": "https://www.uniprot.org/uniprotkb/P10040" } ], "pmid": "" }, { "name": "Malpighian tubule morphogenesis", "id": "GO:0007443", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007443", "evidence": [ { "database": "UniProtKB", "id": "P10040", "url": "https://www.uniprot.org/uniprotkb/P10040" } ], "pmid": "" }, { "name": "liquid clearance, open tracheal system", "id": "GO:0035002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035002", "evidence": [ { "database": "UniProtKB", "id": "P10040", "url": "https://www.uniprot.org/uniprotkb/P10040" } ], "pmid": "" }, { "name": "compound eye photoreceptor development", "id": "GO:0042051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042051", "evidence": [ { "database": "UniProtKB", "id": "P10040", "url": "https://www.uniprot.org/uniprotkb/P10040" } ], "pmid": "" }, { "name": "rhabdomere development", "id": "GO:0042052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042052", "evidence": [ { "database": "UniProtKB", "id": "P10040", "url": "https://www.uniprot.org/uniprotkb/P10040" } ], "pmid": "" }, { "name": "regulation of imaginal disc growth", "id": "GO:0045570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045570", "evidence": [ { "database": "UniProtKB", "id": "P10040", "url": "https://www.uniprot.org/uniprotkb/P10040" } ], "pmid": "" }, { "name": "dorsal closure, amnioserosa morphology change", "id": "GO:0046664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046664", "evidence": [ { "database": "UniProtKB", "id": "P10040", "url": "https://www.uniprot.org/uniprotkb/P10040" } ], "pmid": "" }, { "name": "amnioserosa maintenance", "id": "GO:0046665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046665", "evidence": [ { "database": "UniProtKB", "id": "P10040", "url": "https://www.uniprot.org/uniprotkb/P10040" } ], "pmid": "" }, { "name": "wing disc dorsal/ventral pattern formation", "id": "GO:0048190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048190", "evidence": [ { "database": "UniProtKB", "id": "P10040", "url": "https://www.uniprot.org/uniprotkb/P10040" } ], "pmid": "" }, { "name": "epithelial tube morphogenesis", "id": "GO:0060562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060562", "evidence": [ { "database": "UniProtKB", "id": "P10040", "url": "https://www.uniprot.org/uniprotkb/P10040" } ], "pmid": "" }, { "name": "embryo development ending in birth or egg hatching", "id": "GO:0009792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009792", "evidence": [ { "database": "UniProtKB", "id": "P10040", "url": "https://www.uniprot.org/uniprotkb/P10040" } ], "pmid": "" }, { "name": "renal tubule development", "id": "GO:0061326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061326", "evidence": [ { "database": "UniProtKB", "id": "P10040", "url": "https://www.uniprot.org/uniprotkb/P10040" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "P10040", "url": "https://www.uniprot.org/uniprotkb/P10040" } ], "pmid": "" }, { "name": "embryonic morphogenesis", "id": "GO:0048598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048598", "evidence": [ { "database": "UniProtKB", "id": "P10040", "url": "https://www.uniprot.org/uniprotkb/P10040" } ], "pmid": "" }, { "name": "regulation of developmental growth", "id": "GO:0048638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048638", "evidence": [ { "database": "UniProtKB", "id": "P10040", "url": "https://www.uniprot.org/uniprotkb/P10040" } ], "pmid": "" }, { "name": "positive regulation of signal transduction", "id": "GO:0009967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009967", "evidence": [ { "database": "UniProtKB", "id": "P10040", "url": "https://www.uniprot.org/uniprotkb/P10040" } ], "pmid": "" }, { "name": "epithelial cell development", "id": "GO:0002064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002064", "evidence": [ { "database": "UniProtKB", "id": "P10040", "url": "https://www.uniprot.org/uniprotkb/P10040" } ], "pmid": "" }, { "name": "regulation of transport", "id": "GO:0051049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051049", "evidence": [ { "database": "UniProtKB", "id": "P10040", "url": "https://www.uniprot.org/uniprotkb/P10040" } ], "pmid": "" }, { "name": "regulation of Notch signaling pathway", "id": "GO:0008593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008593", "evidence": [ { "database": "UniProtKB", "id": "P10040", "url": "https://www.uniprot.org/uniprotkb/P10040" } ], "pmid": "" }, { "name": "multicellular organismal-level homeostasis", "id": "GO:0048871", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048871", "evidence": [ { "database": "UniProtKB", "id": "P10040", "url": "https://www.uniprot.org/uniprotkb/P10040" } ], "pmid": "" }, { "name": "regulation of primary metabolic process", "id": "GO:0080090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0080090", "evidence": [ { "database": "UniProtKB", "id": "P10040", "url": "https://www.uniprot.org/uniprotkb/P10040" } ], "pmid": "" }, { "name": "wing disc pattern formation", "id": "GO:0035222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035222", "evidence": [ { "database": "UniProtKB", "id": "P10040", "url": "https://www.uniprot.org/uniprotkb/P10040" } ], "pmid": "" }, { "name": "regulation of macromolecule metabolic process", "id": "GO:0060255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060255", "evidence": [ { "database": "UniProtKB", "id": "P10040", "url": "https://www.uniprot.org/uniprotkb/P10040" } ], "pmid": "" }, { "name": "negative regulation of developmental process", "id": "GO:0051093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051093", "evidence": [ { "database": "UniProtKB", "id": "P10040", "url": "https://www.uniprot.org/uniprotkb/P10040" } ], "pmid": "" }, { "name": "negative regulation of multicellular organismal process", "id": "GO:0051241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051241", "evidence": [ { "database": "UniProtKB", "id": "P10040", "url": "https://www.uniprot.org/uniprotkb/P10040" } ], "pmid": "" }, { "name": "gland development", "id": "GO:0048732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048732", "evidence": [ { "database": "UniProtKB", "id": "P10040", "url": "https://www.uniprot.org/uniprotkb/P10040" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P10040", "url": "https://www.uniprot.org/uniprotkb/P10040" } ], "pmid": "" }, { "name": "spindle", "id": "GO:0005819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005819", "evidence": [ { "database": "UniProtKB", "id": "P10040", "url": "https://www.uniprot.org/uniprotkb/P10040" } ], "pmid": "" }, { "name": "plasma 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"https://www.ebi.ac.uk/QuickGO/term/GO:0035003", "evidence": [ { "database": "UniProtKB", "id": "P10040", "url": "https://www.uniprot.org/uniprotkb/P10040" } ], "pmid": "" }, { "name": "apicolateral plasma membrane", "id": "GO:0016327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016327", "evidence": [ { "database": "UniProtKB", "id": "P10040", "url": "https://www.uniprot.org/uniprotkb/P10040" } ], "pmid": "" }, { "name": "rhabdomere", "id": "GO:0016028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016028", "evidence": [ { "database": "UniProtKB", "id": "P10040", "url": "https://www.uniprot.org/uniprotkb/P10040" } ], "pmid": "" }, { "name": "rhabdomere membrane", "id": "GO:0033583", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033583", "evidence": [ { "database": "UniProtKB", "id": "P10040", "url": "https://www.uniprot.org/uniprotkb/P10040" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { 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"https://www.ebi.ac.uk/QuickGO/term/GO:0022627", "evidence": [ { "database": "UniProtKB", "id": "Q7KS38", "url": "https://www.uniprot.org/uniprotkb/Q7KS38" } ], "pmid": "" }, { "name": "ribosome", "id": "GO:0005840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005840", "evidence": [ { "database": "UniProtKB", "id": "Q7KS38", "url": "https://www.uniprot.org/uniprotkb/Q7KS38" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "Q7KS38", "url": "https://www.uniprot.org/uniprotkb/Q7KS38" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "P09087-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P09087", "url": "https://www.uniprot.org/uniprotkb/P09087" } ], "common_name": "Fruit fly", "glygen_name": "Fruit 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} ], "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": "P09087", "url": "https://www.uniprot.org/uniprotkb/P09087" } ], "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": "P09087", "url": "https://www.uniprot.org/uniprotkb/P09087" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "P09087", "url": "https://www.uniprot.org/uniprotkb/P09087" } ], "pmid": "" }, { "name": "midgut development", "id": "GO:0007494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007494", "evidence": [ { "database": "UniProtKB", "id": "P09087", "url": "https://www.uniprot.org/uniprotkb/P09087" } ], "pmid": "" }, { "name": "segment specification", "id": "GO:0007379", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007379", "evidence": [ { "database": "UniProtKB", "id": "P09087", "url": "https://www.uniprot.org/uniprotkb/P09087" } ], "pmid": "" }, { "name": "male genitalia development", "id": "GO:0030539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030539", "evidence": [ { "database": "UniProtKB", "id": "P09087", "url": "https://www.uniprot.org/uniprotkb/P09087" } ], "pmid": "" }, { "name": "germ cell migration", "id": "GO:0008354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008354", "evidence": [ { "database": "UniProtKB", "id": "P09087", "url": "https://www.uniprot.org/uniprotkb/P09087" } ], "pmid": "" }, { "name": "gonadal mesoderm development", "id": "GO:0007506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007506", "evidence": [ { "database": "UniProtKB", "id": "P09087", "url": "https://www.uniprot.org/uniprotkb/P09087" } ], "pmid": "" }, { "name": "neuroendocrine cell differentiation", "id": "GO:0061101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061101", "evidence": [ { "database": "UniProtKB", "id": "P09087", "url": "https://www.uniprot.org/uniprotkb/P09087" } ], "pmid": "" }, { "name": "negative regulation of striated muscle tissue development", "id": "GO:0045843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045843", "evidence": [ { "database": "UniProtKB", "id": "P09087", "url": "https://www.uniprot.org/uniprotkb/P09087" } ], "pmid": "" }, { "name": "external genitalia morphogenesis", "id": "GO:0035261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035261", "evidence": [ { "database": "UniProtKB", "id": "P09087", "url": "https://www.uniprot.org/uniprotkb/P09087" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process involved in morphogenesis", "id": "GO:1902339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902339", "evidence": [ { "database": "UniProtKB", "id": "P09087", "url": "https://www.uniprot.org/uniprotkb/P09087" } ], "pmid": "" }, { "name": "specification of segmental identity, abdomen", "id": "GO:0007385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007385", "evidence": [ { "database": "UniProtKB", "id": "P09087", "url": "https://www.uniprot.org/uniprotkb/P09087" } ], "pmid": "" }, { "name": "imaginal disc-derived female genitalia development", "id": "GO:0007486", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007486", "evidence": [ { "database": "UniProtKB", "id": "P09087", "url": "https://www.uniprot.org/uniprotkb/P09087" } ], "pmid": "" }, { "name": "negative regulation of cardioblast cell fate specification", "id": "GO:0009997", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009997", "evidence": [ { "database": "UniProtKB", "id": "P09087", "url": "https://www.uniprot.org/uniprotkb/P09087" } ], "pmid": "" }, { "name": "male pigmentation", "id": "GO:0048094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048094", "evidence": [ 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"https://www.ebi.ac.uk/QuickGO/term/GO:0035263", "evidence": [ { "database": "UniProtKB", "id": "P09087", "url": "https://www.uniprot.org/uniprotkb/P09087" } ], "pmid": "" }, { "name": "spiracle morphogenesis, open tracheal system", "id": "GO:0035277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035277", "evidence": [ { "database": "UniProtKB", "id": "P09087", "url": "https://www.uniprot.org/uniprotkb/P09087" } ], "pmid": "" }, { "name": "negative regulation of salivary gland boundary specification", "id": "GO:0045705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045705", "evidence": [ { "database": "UniProtKB", "id": "P09087", "url": "https://www.uniprot.org/uniprotkb/P09087" } ], "pmid": "" }, { "name": "sperm storage", "id": "GO:0046693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046693", "evidence": [ { "database": "UniProtKB", "id": "P09087", "url": "https://www.uniprot.org/uniprotkb/P09087" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "P09087", "url": "https://www.uniprot.org/uniprotkb/P09087" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "P09087", "url": "https://www.uniprot.org/uniprotkb/P09087" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "P09087", "url": "https://www.uniprot.org/uniprotkb/P09087" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "P09087", "url": "https://www.uniprot.org/uniprotkb/P09087" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P09087", "url": "https://www.uniprot.org/uniprotkb/P09087" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P09087", "url": "https://www.uniprot.org/uniprotkb/P09087" } ], "pmid": "" }, { "name": "polytene chromosome band", "id": "GO:0005704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005704", "evidence": [ { "database": "UniProtKB", "id": "P09087", "url": "https://www.uniprot.org/uniprotkb/P09087" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "P61849-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008344", "evidence": [ { "database": "UniProtKB", "id": "P61849", "url": "https://www.uniprot.org/uniprotkb/P61849" } ], "pmid": "" }, { "name": "negative regulation of heart rate", "id": "GO:0010459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010459", "evidence": [ { "database": "UniProtKB", "id": "P61849", "url": "https://www.uniprot.org/uniprotkb/P61849" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle contraction", "id": "GO:0045986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045986", "evidence": [ { "database": "UniProtKB", "id": "P61849", "url": "https://www.uniprot.org/uniprotkb/P61849" } ], "pmid": "" }, { "name": "negative regulation of heart contraction", "id": "GO:0045822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045822", "evidence": [ { "database": "UniProtKB", "id": "P61849", "url": "https://www.uniprot.org/uniprotkb/P61849" } ], "pmid": "" }, { "name": "negative regulation of digestive system process", "id": "GO:0060457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060457", "evidence": [ { "database": "UniProtKB", "id": "P61849", "url": "https://www.uniprot.org/uniprotkb/P61849" } ], "pmid": "" } ], "molecular_function": [ { "name": "neuropeptide hormone activity", "id": "GO:0005184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005184", "evidence": [ { "database": "UniProtKB", "id": "P61849", "url": "https://www.uniprot.org/uniprotkb/P61849" } ], "pmid": "" }, { "name": "neuropeptide receptor binding", "id": "GO:0071855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071855", "evidence": [ { "database": "UniProtKB", "id": "P61849", "url": "https://www.uniprot.org/uniprotkb/P61849" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "O97176-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "O97176", "url": 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fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 540, "chemical_mass": 57036.0, "gene_names": "pnr;CG3978-PA;CG3978;Dmel\\CG3978;Dmel_CG3978;GATA-A;GATA4;GATAa/Pannier;GATAa;GATA;PNR;Pannier;Pnr;dGATAa/pannier;dGATAa;l(3)89B3;pannier;pnr;prn", "protein_name": "GATA-binding factor A", "disease": [ { "disease_id": "DOID:0050650", "name": "familial atrial fibrillation", "description": "An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes.", "url": "https://disease-ontology.org/term/DOID:0050650", "evidence": [ { "id": "0050650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050650" } ], "weight": 0.0 }, { "disease_id": "DOID:0050651", "name": "atrioventricular septal defect", "description": "A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs.", "url": "https://disease-ontology.org/term/DOID:0050651", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ], "weight": 0.0 }, { "disease_id": "DOID:0050861", "name": "colorectal adenocarcinoma", "description": "A colorectal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:0050861", "evidence": [ { "id": "0050861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050861" } ], "weight": 0.0 }, { "disease_id": "DOID:0060224", "name": "atrial fibrillation", "description": "A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, 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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110107" } ], "weight": 0.0 }, { "disease_id": "DOID:0110114", "name": "atrial heart septal defect 9", "description": "An atrial heart septal defect that has_material_basis_in heterozygous mutation in the GATA6 gene on chromosome 18q11.", "url": "https://disease-ontology.org/term/DOID:0110114", "evidence": [ { "id": "0110114", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110114" } ], "weight": 0.0 }, { "disease_id": "DOID:0111733", "name": "pancreatic hypoplasia-diabetes-congenital heart disease syndrome", "description": "A syndrome characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies that has_material_basis_in heterozygous mutation in GATA6 on chromosome 18q11.2.", "url": "https://disease-ontology.org/term/DOID:0111733", "evidence": [ { "id": "0111733", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111733" } ], "weight": 0.0 }, { 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"UniProtKB", "id": "P22807", "url": "https://www.uniprot.org/uniprotkb/P22807" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 659, "chemical_mass": 69955.0, "gene_names": "slou;CG6534;Dmel\\CG6534;Dmel_CG6534;NK-1;NK1/S59;NK1;Nk1;S-59;S59/NK-1;S59;Slou;prd9;s59;slou/NK1;slou", "protein_name": "Homeobox protein slou", "disease": [], "biological_process": [ { "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": "P22807", "url": "https://www.uniprot.org/uniprotkb/P22807" } ], "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": "P22807", "url": "https://www.uniprot.org/uniprotkb/P22807" } ], "pmid": "" }, { "name": "cell 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polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "P22807", "url": "https://www.uniprot.org/uniprotkb/P22807" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "P22807", "url": "https://www.uniprot.org/uniprotkb/P22807" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P22807", "url": "https://www.uniprot.org/uniprotkb/P22807" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q01603-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { 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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:9415", "name": "allergic asthma", "description": "An extrinsic asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. 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"UniProtKB", "id": "Q01603", "url": "https://www.uniprot.org/uniprotkb/Q01603" } ], "pmid": "" }, { "name": "hydrogen peroxide catabolic process", "id": "GO:0042744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042744", "evidence": [ { "database": "UniProtKB", "id": "Q01603", "url": "https://www.uniprot.org/uniprotkb/Q01603" } ], "pmid": "" }, { "name": "egg chorion assembly", "id": "GO:0007306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007306", "evidence": [ { "database": "UniProtKB", "id": "Q01603", "url": "https://www.uniprot.org/uniprotkb/Q01603" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q01603", "url": "https://www.uniprot.org/uniprotkb/Q01603" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q01603", "url": "https://www.uniprot.org/uniprotkb/Q01603" } ], "pmid": "" }, { "name": "peroxidase activity", "id": "GO:0004601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004601", "evidence": [ { "database": "UniProtKB", "id": "Q01603", "url": "https://www.uniprot.org/uniprotkb/Q01603" } ], "pmid": "" }, { "name": "lactoperoxidase activity", "id": "GO:0140825", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140825", "evidence": [ { "database": "UniProtKB", "id": "Q01603", "url": "https://www.uniprot.org/uniprotkb/Q01603" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q01603-1", "start_pos": "310", "end_pos": "310", "site_lbl": "Asn310", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 310, "start_aa": "Asn", "end_pos": 310, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn310", "evidence": [ { "id": "Q01603", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q01603#ptm_processing" } ] } ] } ], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q94900-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q94900", "url": "https://www.uniprot.org/uniprotkb/Q94900" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 456, "chemical_mass": 52334.0, "gene_names": "GluClalpha;BcDNA:HL07853;CG7535;CT23049;Dm-GluCl;DmGluClalpha;DmGlu;Dmel\\CG7535;Dmel_CG7535;DrosGlu-Cl-alpha;DrosGluCl-alpha1;DrosGluCl-alpha;DrosGluCl;GLUCL;GluCalpha;GluClalpha1;GluClalpha;GluCla;GluCl;dGluCl-alpha;glc;gluClalpha;glu", "protein_name": "Glutamate-gated chloride channel", "disease": [ { "disease_id": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "Q94900", "url": "https://www.uniprot.org/uniprotkb/Q94900" } ], "pmid": "" }, { "name": "chloride channel complex", "id": "GO:0034707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034707", "evidence": [ { "database": "UniProtKB", "id": "Q94900", "url": "https://www.uniprot.org/uniprotkb/Q94900" } ], "pmid": "" } ], "biological_process": [ { "name": "chloride transport", "id": "GO:0006821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006821", "evidence": [ { "database": "UniProtKB", "id": "Q94900", "url": "https://www.uniprot.org/uniprotkb/Q94900" } ], "pmid": "" }, { "name": "chloride transmembrane transport", "id": "GO:1902476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902476", "evidence": [ { "database": "UniProtKB", "id": "Q94900", "url": "https://www.uniprot.org/uniprotkb/Q94900" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q94900-1", "start_pos": "278", "end_pos": "278", "site_lbl": "Ser278", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Shows resistance to picrotoxin-induced activity inhibition.", "evidence": [ { "database": "UniProtKB", "id": "Q94900", "url": "https://www.uniprot.org/uniprotkb/Q94900" }, { "database": "PubMed", "id": "31535971", "url": "https://glygen.org/publication/PubMed/31535971" } ] } ] } ], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "P08953-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P08953", "url": "https://www.uniprot.org/uniprotkb/P08953" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1097, "chemical_mass": 124656.0, "gene_names": "Tl;CG5490;CT17414;Dmel\\CG5490;Dmel_CG5490;EP(3)1051;EP1051;Fs(1)Tl;Fs(3)Tl;T1;TL;TOLL;TOL;Tl;Toll-1;Toll10B;Toll1;dToll1;dToll;mat(3)9;mel(3)10;mel(3)9;tl;toll-1;toll", "protein_name": "Protein toll", "disease": [ { "disease_id": "DOID:0050073", "name": "invasive aspergillosis", "description": "An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage.", "url": "https://disease-ontology.org/term/DOID:0050073", "evidence": [ { "id": "0050073", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050073" } ], "weight": 0.0 }, { "disease_id": "DOID:0050127", "name": "sinusitis", "description": "A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip.", "url": "https://disease-ontology.org/term/DOID:0050127", "evidence": [ { "id": "0050127", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050127" } ], "weight": 0.0 }, { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0050855", "name": "renal fibrosis", "description": "A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function.", "url": "https://disease-ontology.org/term/DOID:0050855", "evidence": [ { "id": "0050855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050855" } ], "weight": 0.0 }, { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:0060000", "name": "infective endocarditis", "description": "An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents.", "url": "https://disease-ontology.org/term/DOID:0060000", "evidence": [ { "id": "0060000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060000" } ], "weight": 0.0 }, { "disease_id": "DOID:0060180", "name": "colitis", "description": "An inflammatory bowel disease that involves inflammation located_in colon.", "url": "https://disease-ontology.org/term/DOID:0060180", "evidence": [ { "id": "0060180", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060180" } ], "weight": 0.0 }, { "disease_id": "DOID:0060189", "name": "ileitis", "description": "An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss.", "url": "https://disease-ontology.org/term/DOID:0060189", "evidence": [ { "id": "0060189", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060189" } ], "weight": 0.0 }, { "disease_id": "DOID:0060224", "name": "atrial fibrillation", "description": "A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.", "url": "https://disease-ontology.org/term/DOID:0060224", "evidence": [ { "id": "0060224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060224" } ], "weight": 0.0 }, { "disease_id": "DOID:0060322", "name": "mastoiditis", "description": "A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process.", "url": "https://disease-ontology.org/term/DOID:0060322", "evidence": [ { "id": "0060322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060322" } ], "weight": 0.0 }, { "disease_id": "DOID:0060496", "name": "respiratory allergy", "description": "An allergic disease that is located_in the respiratory tract.", "url": "https://disease-ontology.org/term/DOID:0060496", "evidence": [ { "id": "0060496", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060496" } ], "weight": 0.0 }, { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. 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:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:0080158", "name": "herpes simplex virus keratitis", "description": "A keratitis that has_material_basis_in herpes simplex type infection.", "url": "https://disease-ontology.org/term/DOID:0080158", "evidence": [ { "id": "0080158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080158" } ], "weight": 0.0 }, { "disease_id": "DOID:0080176", "name": "meningococcal meningitis", "description": "A bacterial meningitis that has_material_basis_in Neisseria meningitidis infection.", "url": "https://disease-ontology.org/term/DOID:0080176", "evidence": [ { "id": "0080176", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080176" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0080784", "name": "urinary tract infection", "description": "An urinary system disease that is characterized by an infection in any part of the urinary system, including the kidneys, ureters, bladder or urethra.", "url": "https://disease-ontology.org/term/DOID:0080784", "evidence": [ { "id": "0080784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080784" } ], "weight": 0.0 }, { "disease_id": "DOID:0080998", "name": "acute necrotizing pancreatitis", "description": "An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems.", "url": "https://disease-ontology.org/term/DOID:0080998", "evidence": [ { "id": "0080998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080998" } ], "weight": 0.0 }, { "disease_id": "DOID:10074", "name": "hymenolepiasis", "description": "A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness.", "url": "https://disease-ontology.org/term/DOID:10074", "evidence": [ { "id": "10074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10074" } ], "weight": 0.0 }, { "disease_id": "DOID:10140", "name": "dry eye syndrome", "description": "A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface.", "url": "https://disease-ontology.org/term/DOID:10140", "evidence": [ { "id": "10140", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10140" } ], "weight": 0.0 }, { "disease_id": "DOID:10223", "name": "dermatomyositis", "description": "A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction.", "url": "https://disease-ontology.org/term/DOID:10223", "evidence": [ { "id": "10223", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10223" } ], "weight": 0.0 }, { "disease_id": "DOID:1024", "name": "leprosy", "description": "A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage.", "url": "https://disease-ontology.org/term/DOID:1024", "evidence": [ { "id": "1024", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1024" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID: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" } ], "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:106", "name": "pleural tuberculosis", "description": "An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac.", "url": "https://disease-ontology.org/term/DOID:106", "evidence": [ { "id": "106", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:106" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10690", "name": "mastitis", "description": "A breast disease characterized by painful infection of the breast tissue.", "url": "https://disease-ontology.org/term/DOID:10690", "evidence": [ { "id": "10690", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10690" } ], "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:1074", "name": "kidney failure", "description": "A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood.", "url": "https://disease-ontology.org/term/DOID:1074", "evidence": [ { "id": "1074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1074" } ], "weight": 0.0 }, { "disease_id": "DOID:10754", "name": "otitis media", "description": "A otitis which involves inflammation of the middle ear.", "url": "https://disease-ontology.org/term/DOID:10754", "evidence": [ { "id": "10754", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10754" } ], "weight": 0.0 }, { "disease_id": "DOID:10873", "name": "Kuhnt-Junius degeneration", "description": "", "url": "https://disease-ontology.org/term/DOID:10873", "evidence": [ { "id": "10873", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10873" } ], "weight": 0.0 }, { "disease_id": "DOID:10964", "name": "cholesteatoma of middle ear", "description": "", "url": "https://disease-ontology.org/term/DOID:10964", "evidence": [ { "id": "10964", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10964" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:11121", "name": "pulpitis", "description": "A dental pulp disease characterized by inflammation.", "url": "https://disease-ontology.org/term/DOID:11121", "evidence": [ { "id": "11121", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11121" } ], "weight": 0.0 }, { "disease_id": "DOID:11168", "name": "anogenital venereal wart", "description": "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts.", "url": "https://disease-ontology.org/term/DOID:11168", "evidence": [ { "id": "11168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11168" } ], "weight": 0.0 }, { "disease_id": "DOID:11204", "name": "allergic conjunctivitis", "description": "A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant.", "url": "https://disease-ontology.org/term/DOID:11204", "evidence": [ { "id": "11204", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11204" } ], "weight": 0.0 }, { "disease_id": "DOID:11400", "name": "pyelonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:11400", "evidence": [ { "id": "11400", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11400" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:11506", "name": "suppurative otitis media", "description": "A otitis media which involves inflammation of the middle ear with infected effusion containing pus.", "url": "https://disease-ontology.org/term/DOID:11506", "evidence": [ { "id": "11506", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11506" } ], "weight": 0.0 }, { "disease_id": "DOID:11823", "name": "hepatorenal syndrome", "description": "An acute kidney failure that is characterized by severe renal vasoconstriction.", "url": "https://disease-ontology.org/term/DOID:11823", "evidence": [ { "id": "11823", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11823" } ], "weight": 0.0 }, { "disease_id": "DOID:1214", "name": "tympanosclerosis", "description": "", "url": "https://disease-ontology.org/term/DOID:1214", "evidence": [ { "id": "1214", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1214" } ], "weight": 0.0 }, { "disease_id": "DOID:12148", "name": "alveolar echinococcosis", "description": "An echinococcosis that is caused by the larvae of Echinococcus multilocularis affecting the liver as a slow growing, destructive tumor, with abdominal pain, biliary obstruction, and occasionally metastatic lesions into the lungs and brain.", "url": "https://disease-ontology.org/term/DOID:12148", "evidence": [ { "id": "12148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12148" } ], "weight": 0.0 }, { "disease_id": "DOID:12306", "name": "vitiligo", "description": "An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.", "url": "https://disease-ontology.org/term/DOID:12306", "evidence": [ { "id": "12306", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12306" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1273", "name": "respiratory syncytial virus infectious disease", "description": "A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus (Orthopneumovirus hominis), which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress.", "url": "https://disease-ontology.org/term/DOID:1273", "evidence": [ { "id": "1273", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1273" } ], "weight": 0.0 }, { "disease_id": "DOID:13001", "name": "carotid stenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:13001", "evidence": [ { "id": "13001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13001" } ], "weight": 0.0 }, { "disease_id": "DOID:13141", "name": "uveitis", "description": "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.", "url": "https://disease-ontology.org/term/DOID:13141", "evidence": [ { "id": "13141", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13141" } ], "weight": 0.0 }, { "disease_id": "DOID:13241", "name": "Behcet's disease", "description": "An autoimmune disease that is characterized by mucocutaneous manifestations, including recurrent oral and genital ulcerations, ocular manifestations, especially chronic relapsing uveitis, and systemic vasculitis involving arteries and veins of all sizes.", "url": "https://disease-ontology.org/term/DOID:13241", "evidence": [ { "id": "13241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ], "weight": 0.0 }, { "disease_id": "DOID:13375", "name": "temporal arteritis", "description": "A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head.", "url": "https://disease-ontology.org/term/DOID:13375", "evidence": [ { "id": "13375", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13375" } ], "weight": 0.0 }, { "disease_id": "DOID:13378", "name": "Kawasaki disease", "description": "A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels and that symptoms of fever, congestion of ocular conjunctivae, reddening of lips, reddening of oral cavity, protuberance of tongue papillae and edema of extremities.", "url": "https://disease-ontology.org/term/DOID:13378", "evidence": [ { "id": "13378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13378" } ], "weight": 0.0 }, { "disease_id": "DOID:13406", "name": "pulmonary sarcoidosis", "description": "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.", "url": "https://disease-ontology.org/term/DOID:13406", "evidence": [ { "id": "13406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13406" } ], "weight": 0.0 }, { "disease_id": "DOID:13544", "name": "low tension glaucoma", "description": "An open-angle glaucoma characterized by increased intrinsic resistance to aqueous outflow without known secondary causes, an anatomically narrow anterior chamber angle, or elevated intraocular pressure compared to the average population. Normal tension glaucoma has_symptom progressive decreased vision and progressive loss of peripheral vision.", "url": "https://disease-ontology.org/term/DOID:13544", "evidence": [ { "id": "13544", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13544" } ], "weight": 0.0 }, { "disease_id": "DOID:13564", "name": "aspergillosis", "description": "An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system.", "url": "https://disease-ontology.org/term/DOID:13564", "evidence": [ { "id": "13564", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13564" } ], "weight": 0.0 }, { "disease_id": "DOID:13641", "name": "exfoliation syndrome", "description": "A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures.", "url": "https://disease-ontology.org/term/DOID:13641", "evidence": [ { "id": "13641", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13641" } ], "weight": 0.0 }, { "disease_id": "DOID:13809", "name": "familial combined hyperlipidemia", "description": "", "url": "https://disease-ontology.org/term/DOID:13809", "evidence": [ { "id": "13809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13809" } ], "weight": 0.0 }, { "disease_id": "DOID:14018", "name": "alcoholic liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:14018", "evidence": [ { "id": "14018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14018" } ], "weight": 0.0 }, { "disease_id": "DOID:1407", "name": "anterior uveitis", "description": "", "url": "https://disease-ontology.org/term/DOID:1407", "evidence": [ { "id": "1407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1407" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:1495", "name": "cystic echinococcosis", "description": "An echinococcosis that is caused by the larvae of Echinococcus granulosus. Hepatic involvement can result in abdominal pain, a mass in the hepatic area, and biliary duct obstruction. Pulmonary involvement can produce chest pain, cough, and hemoptysis. Rupture of the cysts produce fever, urticaria, eosinophilia, and anaphylactic shock, as well as cyst dissemination. Brain, bone, heart can also be infected.", "url": "https://disease-ontology.org/term/DOID:1495", "evidence": [ { "id": "1495", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1495" } ], "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:1580", "name": "diffuse scleroderma", "description": "", "url": "https://disease-ontology.org/term/DOID:1580", "evidence": [ { "id": "1580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1580" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.", "url": "https://disease-ontology.org/term/DOID:1909", "evidence": [ { "id": "1909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2945", "name": "severe acute respiratory syndrome", "description": "A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Severe acute respiratory syndrome coronavirus (SARS-CoV or SARS-CoV-1), a subtype of Betacoronavirus pandemicum, which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "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:2986", "name": "IgA glomerulonephritis", "description": "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.", "url": "https://disease-ontology.org/term/DOID:2986", "evidence": [ { "id": "2986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2986" } ], "weight": 0.0 }, { "disease_id": "DOID:2987", "name": "familial Mediterranean fever", "description": "An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.", "url": "https://disease-ontology.org/term/DOID:2987", "evidence": [ { "id": "2987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2987" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3042", "name": "allergic contact dermatitis", "description": "A contact dermatitis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign.", "url": "https://disease-ontology.org/term/DOID:3042", "evidence": [ { "id": "3042", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3042" } ], "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:3178", "name": "skin papilloma", "description": "A skin benign neoplasm that is composed of epithelial cells and a fibrous stalk.", "url": "https://disease-ontology.org/term/DOID:3178", "evidence": [ { "id": "3178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3178" } ], "weight": 0.0 }, { "disease_id": "DOID:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3407", "name": "carotid artery disease", "description": "", "url": "https://disease-ontology.org/term/DOID:3407", "evidence": [ { "id": "3407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3407" } ], "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:399", "name": "tuberculosis", "description": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.", "url": "https://disease-ontology.org/term/DOID:399", "evidence": [ { "id": "399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:399" } ], "weight": 0.0 }, { "disease_id": "DOID:4194", "name": "glucose metabolism disease", "description": "A carbohydrate metabolic disorder that is characterized by blood glucose levels which cannot be maintained within the normal range.", "url": "https://disease-ontology.org/term/DOID:4194", "evidence": [ { "id": "4194", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4194" } ], "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:4481", "name": "allergic rhinitis", "description": "A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.", "url": "https://disease-ontology.org/term/DOID:4481", "evidence": [ { "id": "4481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4481" } ], "weight": 0.0 }, { "disease_id": "DOID:4483", "name": "rhinitis", "description": "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.", "url": "https://disease-ontology.org/term/DOID:4483", "evidence": [ { "id": "4483", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4483" } ], "weight": 0.0 }, { "disease_id": "DOID:4677", "name": "keratitis", "description": "A corneal disease that is characterized by inflammation of the cornea.", "url": "https://disease-ontology.org/term/DOID:4677", "evidence": [ { "id": "4677", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4677" } ], "weight": 0.0 }, { "disease_id": "DOID:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas.", "url": "https://disease-ontology.org/term/DOID:4989", "evidence": [ { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" } ], "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:5614", "name": "eye disease", "description": "An eye and adnexa disease that is located_in the eye.", "url": "https://disease-ontology.org/term/DOID:5614", "evidence": [ { "id": "5614", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5614" } ], "weight": 0.0 }, { "disease_id": "DOID:580", "name": "uric acid nephrolithiasis", "description": "A nephrolithiasis that is characterized by stones composed predominantly uric acid.", "url": "https://disease-ontology.org/term/DOID:580", "evidence": [ { "id": "580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:580" } ], "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:612", "name": "primary immunodeficiency disease", "description": "An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation.", "url": "https://disease-ontology.org/term/DOID:612", "evidence": [ { "id": "612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:612" } ], "weight": 0.0 }, { "disease_id": "DOID:6543", "name": "acne", "description": "A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring.", "url": "https://disease-ontology.org/term/DOID:6543", "evidence": [ { "id": "6543", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6543" } ], "weight": 0.0 }, { "disease_id": "DOID: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:7147", "name": "ankylosing spondylitis", "description": "An arthritis that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.", "url": "https://disease-ontology.org/term/DOID:7147", "evidence": [ { "id": "7147", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7147" } ], "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:8283", "name": "peritonitis", "description": "A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output.", "url": "https://disease-ontology.org/term/DOID:8283", "evidence": [ { "id": "8283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8283" } ], "weight": 0.0 }, { "disease_id": "DOID:848", "name": "arthritis", "description": "A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint.", "url": "https://disease-ontology.org/term/DOID:848", "evidence": [ { "id": "848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:848" } ], "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:8534", "name": "gastroesophageal reflux disease", "description": "", "url": "https://disease-ontology.org/term/DOID:8534", "evidence": [ { "id": "8534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8534" } ], "weight": 0.0 }, { "disease_id": "DOID:854", "name": "collagen disease", "description": "A connective tissue disease that characterized by connective tissue disease that has_material_basis_in inheritable defects in collagen.", "url": "https://disease-ontology.org/term/DOID:854", "evidence": [ { "id": "854", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:854" } ], "weight": 0.0 }, { "disease_id": "DOID:8677", "name": "perinatal necrotizing enterocolitis", "description": "", "url": "https://disease-ontology.org/term/DOID:8677", "evidence": [ { "id": "8677", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8677" } ], "weight": 0.0 }, { "disease_id": "DOID:869", "name": "cholesteatoma", "description": "A keratosis that is characterized by keratinizing squamous epithelium located in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction.", "url": "https://disease-ontology.org/term/DOID:869", "evidence": [ { "id": "869", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:869" } ], "weight": 0.0 }, { "disease_id": "DOID:874", "name": "bacterial pneumonia", "description": "A pneumonia involving inflammation of the lungs caused by bacteria.", "url": "https://disease-ontology.org/term/DOID:874", "evidence": [ { "id": "874", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:874" } ], "weight": 0.0 }, { "disease_id": "DOID:8741", "name": "seborrheic dermatitis", "description": "A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss.", "url": "https://disease-ontology.org/term/DOID:8741", "evidence": [ { "id": "8741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8741" } ], "weight": 0.0 }, { "disease_id": "DOID:8867", "name": "molluscum contagiosum", "description": "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Molluscum contagiosum virus (Molluscipoxvirus molluscum), which is transmitted_by contact with the skin, and transmitted_by fomites. The infection has_symptom lesions which are flesh-colored with a pit in the center.", "url": "https://disease-ontology.org/term/DOID:8867", "evidence": [ { "id": "8867", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8867" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9111", "name": "cutaneous leishmaniasis", "description": "A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions.", "url": "https://disease-ontology.org/term/DOID:9111", "evidence": [ { "id": "9111", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9111" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9368", "name": "keratoconjunctivitis", "description": "", "url": "https://disease-ontology.org/term/DOID:9368", "evidence": [ { "id": "9368", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9368" } ], "weight": 0.0 }, { "disease_id": "DOID:9675", "name": "pulmonary emphysema", "description": "A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls.", "url": "https://disease-ontology.org/term/DOID:9675", "evidence": [ { "id": "9675", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9675" } ], "weight": 0.0 }, { "disease_id": "DOID:9743", "name": "diabetic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:9743", "evidence": [ { "id": "9743", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9743" } ], "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 } ], "biological_process": [ { "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": "P08953", "url": "https://www.uniprot.org/uniprotkb/P08953" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "P08953", "url": 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"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:10609", "name": "rickets", "description": "A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone.", "url": "https://disease-ontology.org/term/DOID:10609", "evidence": [ { "id": "10609", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10609" } ], "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: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:13619", "name": "extrahepatic cholestasis", "description": "A cholestasis resulting from causes located_in bile ducts outside the liver.", "url": "https://disease-ontology.org/term/DOID:13619", "evidence": [ { "id": "13619", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13619" } ], "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:1993", "name": "rectum cancer", "description": "A colorectal cancer that is located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:1993", "evidence": [ { "id": "1993", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1993" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "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:234", "name": "colon adenocarcinoma", "description": "A colon carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:234", "evidence": [ { "id": "234", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:234" } ], "weight": 0.0 }, { "disease_id": "DOID:2527", "name": "nephrosis", "description": "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation.", "url": "https://disease-ontology.org/term/DOID:2527", "evidence": [ { "id": "2527", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2527" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3713", "name": "ovary adenocarcinoma", "description": "An ovarian carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3713", "evidence": [ { "id": "3713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3713" } ], "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:3905", "name": "lung carcinoma", "description": "A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis.", "url": "https://disease-ontology.org/term/DOID:3905", "evidence": [ { "id": "3905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3905" } ], "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:4810", "name": "cerebrotendinous xanthomatosis", "description": "A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in homozygous or compound heterozygous mutation in the CYP27A1 gene, which encodes sterol 27-hydroxylase, on chromosome 2q35.", "url": "https://disease-ontology.org/term/DOID:4810", "evidence": [ { "id": "4810", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4810" } ], "weight": 0.0 }, { "disease_id": "DOID:4914", "name": "esophagus adenocarcinoma", "description": "An esophageal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4914", "evidence": [ { "id": "4914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4914" } ], "weight": 0.0 }, { "disease_id": "DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:5041", "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:893", "name": "Wilson disease", "description": "A metal metabolism disease that is characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes.", "url": "https://disease-ontology.org/term/DOID:893", "evidence": [ { "id": "893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:893" } ], "weight": 0.0 }, { "disease_id": 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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 } ], "molecular_function": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "P82712", "url": "https://www.uniprot.org/uniprotkb/P82712" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "P82712", "url": "https://www.uniprot.org/uniprotkb/P82712" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": 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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. 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"description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the CAPN1 gene on chromosome 11q13.", "url": "https://disease-ontology.org/term/DOID:0110821", "evidence": [ { "id": "0110821", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110821" } ], "weight": 0.0 }, { "disease_id": "DOID:10230", "name": "aortic atherosclerosis", "description": "An atherosclerosis of the aorta.", "url": "https://disease-ontology.org/term/DOID:10230", "evidence": [ { "id": "10230", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10230" } ], "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" } ], "weight": 0.0 }, { "disease_id": "DOID:1059", "name": "intellectual 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especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:1441", "name": "autosomal dominant cerebellar ataxia", "description": "A cerebellar ataxia that has_material_basis_in autosomal dominant inheritance.", "url": "https://disease-ontology.org/term/DOID:1441", "evidence": [ { "id": "1441", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1441" } ], "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:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 }, { "disease_id": "DOID:936", "name": "brain disease", "description": "A central nervous system disease that is located_in the brain.", "url": "https://disease-ontology.org/term/DOID:936", "evidence": [ { "id": "936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:936" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of smoothened signaling pathway", "id": "GO:0045880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045880", "evidence": [ { "database": "UniProtKB", "id": "P36872", "url": "https://www.uniprot.org/uniprotkb/P36872" } ], "pmid": "" }, { "name": "mitotic cell cycle", "id": "GO:0000278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000278", "evidence": [ { "database": "UniProtKB", "id": "P36872", "url": "https://www.uniprot.org/uniprotkb/P36872" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "P36872", "url": "https://www.uniprot.org/uniprotkb/P36872" } ], "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": "P36872", "url": "https://www.uniprot.org/uniprotkb/P36872" } ], "pmid": "" }, { "name": "regulation of mitotic metaphase/anaphase transition", "id": "GO:0030071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030071", "evidence": [ { "database": "UniProtKB", "id": "P36872", "url": "https://www.uniprot.org/uniprotkb/P36872" } ], "pmid": "" }, { "name": "centrosome cycle", "id": "GO:0007098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007098", "evidence": [ { "database": "UniProtKB", "id": "P36872", "url": "https://www.uniprot.org/uniprotkb/P36872" } ], "pmid": "" }, { "name": "meiotic spindle assembly", "id": "GO:0090306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090306", "evidence": [ { "database": "UniProtKB", "id": "P36872", "url": "https://www.uniprot.org/uniprotkb/P36872" } ], "pmid": "" }, { "name": "regulation of centriole replication", "id": "GO:0046599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046599", "evidence": [ { "database": "UniProtKB", "id": "P36872", "url": "https://www.uniprot.org/uniprotkb/P36872" } ], "pmid": "" }, { "name": "negative regulation of neuroblast proliferation", "id": "GO:0007406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007406", "evidence": [ { "database": "UniProtKB", "id": "P36872", "url": "https://www.uniprot.org/uniprotkb/P36872" } ], "pmid": "" }, { "name": "metaphase/anaphase transition of mitotic cell cycle", "id": "GO:0007091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007091", "evidence": [ { "database": "UniProtKB", "id": "P36872", "url": "https://www.uniprot.org/uniprotkb/P36872" } ], "pmid": "" }, { "name": "sensory organ development", "id": "GO:0007423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007423", "evidence": [ { "database": "UniProtKB", "id": "P36872", "url": "https://www.uniprot.org/uniprotkb/P36872" } ], "pmid": "" }, { "name": "positive regulation of Toll signaling pathway", "id": "GO:0045752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045752", "evidence": [ { "database": "UniProtKB", "id": "P36872", "url": "https://www.uniprot.org/uniprotkb/P36872" } ], "pmid": "" }, { "name": "imaginal disc pattern formation", "id": "GO:0007447", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007447", "evidence": [ { "database": "UniProtKB", "id": "P36872", "url": "https://www.uniprot.org/uniprotkb/P36872" } ], "pmid": "" }, { "name": "maintenance of neuroblast polarity", "id": "GO:0045201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045201", "evidence": [ { "database": "UniProtKB", "id": "P36872", "url": "https://www.uniprot.org/uniprotkb/P36872" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P36872", "url": "https://www.uniprot.org/uniprotkb/P36872" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P36872", "url": "https://www.uniprot.org/uniprotkb/P36872" } ], "pmid": "" }, { "name": "protein phosphatase type 2A complex", "id": "GO:0000159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000159", "evidence": [ { "database": "UniProtKB", "id": "P36872", "url": "https://www.uniprot.org/uniprotkb/P36872" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein phosphatase regulator activity", "id": "GO:0019888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019888", "evidence": [ { "database": "UniProtKB", "id": "P36872", "url": "https://www.uniprot.org/uniprotkb/P36872" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q8SY61-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8SY61", "url": "https://www.uniprot.org/uniprotkb/Q8SY61" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 131, "chemical_mass": 14119.0, "gene_names": "Obp56d;56d;BEST:GH09027;BcDNA:RE22207;CG11218;CT31326;DmelObp56d;Dmel\\CG11218;Dmel_CG11218;OBP56d;Obp56d;RH69634p;obp56d", "protein_name": "General odorant-binding protein 56d", "disease": [], "biological_process": [ { "name": "olfactory behavior", "id": "GO:0042048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042048", "evidence": [ { "database": "UniProtKB", "id": "Q8SY61", "url": "https://www.uniprot.org/uniprotkb/Q8SY61" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "Q8SY61", "url": "https://www.uniprot.org/uniprotkb/Q8SY61" } ], "pmid": "" }, { "name": "response to pheromone", "id": "GO:0019236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019236", "evidence": [ { "database": "UniProtKB", "id": "Q8SY61", "url": "https://www.uniprot.org/uniprotkb/Q8SY61" } ], "pmid": "" }, { "name": "sensory perception of chemical stimulus", "id": "GO:0007606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007606", "evidence": [ { "database": "UniProtKB", "id": "Q8SY61", "url": "https://www.uniprot.org/uniprotkb/Q8SY61" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q8SY61", "url": "https://www.uniprot.org/uniprotkb/Q8SY61" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q8SY61", "url": "https://www.uniprot.org/uniprotkb/Q8SY61" } ], "pmid": "" } ], "molecular_function": [ { "name": "odorant binding", "id": "GO:0005549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005549", "evidence": [ { "database": "UniProtKB", "id": "Q8SY61", "url": "https://www.uniprot.org/uniprotkb/Q8SY61" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q05319-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q05319", "url": "https://www.uniprot.org/uniprotkb/Q05319" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 787, "chemical_mass": 85144.0, "gene_names": "Sb;CG4316;Dmel\\CG4316;Dmel_CG4316;SP56;Sb-sbd;Sb;c-SP56;cSP56;sbd;st-sb", "protein_name": "Serine proteinase stubble", "disease": [ { "disease_id": "DOID:0050589", "name": "inflammatory bowel disease", "description": "An intestinal disease characterized by inflammation located in all parts of digestive tract.", "url": "https://disease-ontology.org/term/DOID:0050589", "evidence": [ { "id": "0050589", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050589" } ], "weight": 0.0 }, { "disease_id": "DOID:0060074", "name": "ductal carcinoma in situ", "description": "A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:0060074", "evidence": [ { "id": "0060074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060074" } ], "weight": 0.0 }, { "disease_id": "DOID:0060720", "name": "autosomal recessive congenital ichthyosis 11", "description": "An autosomal recessive congenital ichthyosis characterized by ichthyosis, hypotrichosis, photophobia, corneal opacity, pingueculum, blepharitis, marked acanthosis, otrhohyperkeratosis and hyperkeratosis that has_material_basis_in homozygous mutation in the ST14 gene on chromosome 11q24.", "url": "https://disease-ontology.org/term/DOID:0060720", "evidence": [ { "id": "0060720", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060720" } ], "weight": 0.0 }, { "disease_id": "DOID:0111667", "name": "enterokinase deficiency", "description": "An intestinal disease characterized by early-onset 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} ], "pmid": "" } ], "cellular_component": [ { "name": "sperm flagellum", "id": "GO:0036126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036126", "evidence": [ { "database": "UniProtKB", "id": "P08175", "url": "https://www.uniprot.org/uniprotkb/P08175" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q24251-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q24251", "url": "https://www.uniprot.org/uniprotkb/Q24251" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 178, "chemical_mass": 20201.0, "gene_names": "ATPsynD;ATP syn-d;ATPQ;ATPsyn-D;ATPsyn-delta;ATPsyn-d;ATPsynD;CG6030;Dmel\\CG6030;Dmel_CG6030", "protein_name": "ATP synthase subunit d, mitochondrial", "disease": [ { "disease_id": "DOID:0050328", "name": "congenital hypothyroidism", 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"Akt;AKT-1;AKT/PKB;AKT1;AKT;Akt-1;Akt/PKB;Akt1;Akt;CG4006;D-Akt;DAKT1/PKB;DAKT1;DAKT;DAkt1;DAkt;DPKB;DRAC-PK66;DRAC-PK85;DRAC-PK;Dakt1;Dakt;Dkat1;Dmel\\CG4006;Dmel_CG4006;Dpkb;P-AKT;P-Akt;PBB;PKB/AKT;PKB/Akt;PKB/dAKT;PKB;RAC;RacPK;akt1;akt;dAKT/dPKB;dAKT1;dAKT;dAkt/PKB;dAkt1;dAkt;dPKB;dakt1;dakt;l(3)04226;l(3)89Bq;p-Akt;pAkt", "protein_name": "RAC serine/threonine-protein kinase", "disease": [ { "disease_id": "DOID:0050156", "name": "idiopathic pulmonary fibrosis", "description": "A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe.", "url": "https://disease-ontology.org/term/DOID:0050156", "evidence": [ { "id": "0050156", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050156" } ], "weight": 0.0 }, { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, 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polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight.", "url": "https://disease-ontology.org/term/DOID:11612", "evidence": [ { "id": "11612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11612" } ], "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:1245", "name": "vulva cancer", "description": "A female reproductive organ cancer that is located_in the vulva.", "url": "https://disease-ontology.org/term/DOID:1245", "evidence": [ { "id": "1245", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1245" } ], "weight": 0.0 }, { "disease_id": "DOID:13482", "name": "Proteus syndrome", "description": "A syndrome characterized by highly variable, progressive features including asymmetric and disproportionate overgrowth of body parts, connective tissue nevi, epidermal nevi, dysregulated adipose tissue, vascular malformations, dysmorphic facies with seizures or intellectual disability, and tumors that has_material_basis_in mosaicism for a somatic activating mutation in the AKT1 gene on chromosome 14q32.3. There is significant risk of deep vein thrombosis.", "url": "https://disease-ontology.org/term/DOID:13482", "evidence": [ { "id": "13482", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13482" } ], "weight": 0.0 }, { "disease_id": "DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus.", "url": "https://disease-ontology.org/term/DOID:1380", "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1875", "name": "impotence", "description": "A sexual dysfunction that is characterized by persistent or recurrent inability to achieve or to maintain an erection during sexual activity.", "url": "https://disease-ontology.org/term/DOID:1875", "evidence": [ { "id": "1875", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1875" } ], "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:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID:2526", "name": "prostate adenocarcinoma", "description": "A prostate carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:2526", "evidence": [ { "id": "2526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2526" } ], "weight": 0.0 }, { "disease_id": "DOID:2559", "name": "opiate dependence", "description": "A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2559", "evidence": [ { "id": "2559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2559" } ], "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:3008", "name": "invasive ductal carcinoma", "description": "A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated.", "url": "https://disease-ontology.org/term/DOID:3008", "evidence": [ { "id": "3008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3008" } ], "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: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:3069", "name": "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: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:3312", "name": "bipolar disorder", "description": "A mood disorder that involves alternating periods of mania and depression.", "url": "https://disease-ontology.org/term/DOID:3312", "evidence": [ { "id": "3312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3312" } ], "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:4001", "name": "ovarian carcinoma", "description": "An ovarian cancer that has_material_basis_in epithelial tissue and is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:4001", "evidence": [ { "id": "4001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4001" } ], "weight": 0.0 }, { "disease_id": "DOID:4074", "name": "pancreatic adenocarcinoma", "description": "A pancreatic carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4074", "evidence": [ { "id": "4074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4074" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:607", "name": "paraplegia", "description": "", "url": "https://disease-ontology.org/term/DOID:607", "evidence": [ { "id": "607", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:607" } ], "weight": 0.0 }, { "disease_id": "DOID:670", "name": "amphetamine abuse", "description": "A substance abuse that involves the recurring use of amphetamines despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:670", "evidence": [ { "id": "670", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:670" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells.", "url": "https://disease-ontology.org/term/DOID:8552", "evidence": [ { "id": "8552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8552" } ], "weight": 0.0 }, { "disease_id": "DOID:8719", "name": "in situ carcinoma", "description": "A carcinoma that is an early development defined by the absence of invasion of surrounding tissues.", "url": "https://disease-ontology.org/term/DOID:8719", "evidence": [ { "id": "8719", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8719" } ], "weight": 0.0 }, { "disease_id": "DOID:8805", "name": "intermediate coronary syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:8805", "evidence": [ { "id": "8805", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8805" } ], "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:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID: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": "DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "weight": 0.0 }, { "disease_id": "DOID:9993", "name": "hypoglycemia", "description": "A glucose metabolism disease that is characterized by abnormally low levels of blood glucose.", "url": "https://disease-ontology.org/term/DOID:9993", "evidence": [ { "id": "9993", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9993" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of TORC1 signaling", "id": "GO:1904263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904263", "evidence": [ { "database": "UniProtKB", "id": "Q8INB9", "url": "https://www.uniprot.org/uniprotkb/Q8INB9" } ], "pmid": "" }, { "name": "positive regulation of axon regeneration", "id": "GO:0048680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048680", "evidence": [ { "database": "UniProtKB", "id": "Q8INB9", "url": "https://www.uniprot.org/uniprotkb/Q8INB9" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "Q8INB9", "url": "https://www.uniprot.org/uniprotkb/Q8INB9" } ], "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": "Q8INB9", "url": "https://www.uniprot.org/uniprotkb/Q8INB9" } ], "pmid": "" }, { "name": "positive regulation of cell growth", "id": "GO:0030307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030307", "evidence": [ { "database": "UniProtKB", "id": "Q8INB9", "url": "https://www.uniprot.org/uniprotkb/Q8INB9" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "Q8INB9", "url": "https://www.uniprot.org/uniprotkb/Q8INB9" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q8INB9", "url": "https://www.uniprot.org/uniprotkb/Q8INB9" } ], "pmid": "" }, { "name": "regulation of multicellular organism growth", "id": "GO:0040014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040014", "evidence": [ { "database": "UniProtKB", "id": "Q8INB9", "url": "https://www.uniprot.org/uniprotkb/Q8INB9" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q8INB9", "url": "https://www.uniprot.org/uniprotkb/Q8INB9" } ], "pmid": "" }, { "name": "lipid homeostasis", "id": "GO:0055088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055088", "evidence": [ { "database": "UniProtKB", "id": "Q8INB9", "url": "https://www.uniprot.org/uniprotkb/Q8INB9" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q8INB9", "url": "https://www.uniprot.org/uniprotkb/Q8INB9" } ], "pmid": "" }, { "name": "positive regulation of lipid storage", "id": "GO:0010884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010884", "evidence": [ { "database": "UniProtKB", "id": "Q8INB9", "url": "https://www.uniprot.org/uniprotkb/Q8INB9" } ], "pmid": "" }, { "name": "long-term synaptic depression", "id": "GO:0060292", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060292", "evidence": [ { "database": "UniProtKB", "id": "Q8INB9", "url": "https://www.uniprot.org/uniprotkb/Q8INB9" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "Q8INB9", "url": "https://www.uniprot.org/uniprotkb/Q8INB9" } ], "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": "Q8INB9", "url": "https://www.uniprot.org/uniprotkb/Q8INB9" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "Q8INB9", "url": "https://www.uniprot.org/uniprotkb/Q8INB9" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "Q8INB9", "url": "https://www.uniprot.org/uniprotkb/Q8INB9" } ], "pmid": "" }, { "name": "insulin receptor signaling pathway", "id": "GO:0008286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008286", "evidence": [ { "database": "UniProtKB", "id": "Q8INB9", "url": "https://www.uniprot.org/uniprotkb/Q8INB9" } ], "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": "Q8INB9", "url": "https://www.uniprot.org/uniprotkb/Q8INB9" } ], "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": "Q8INB9", "url": "https://www.uniprot.org/uniprotkb/Q8INB9" } ], "pmid": "" }, { "name": "positive 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"" }, { "name": "vesicle", "id": "GO:0031982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982", "evidence": [ { "database": "UniProtKB", "id": "P25228", "url": "https://www.uniprot.org/uniprotkb/P25228" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "P25228", "url": "https://www.uniprot.org/uniprotkb/P25228" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P25228-1", "start_pos": "80", "end_pos": "80", "site_lbl": "Gln80", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Protein is locked into the activated GTP-bound state.", "evidence": [ { "database": "UniProtKB", "id": "P25228", "url": "https://www.uniprot.org/uniprotkb/P25228" }, { "database": "PubMed", "id": "25615965", "url": "https://glygen.org/publication/PubMed/25615965" } ] } ] } ], "record_id": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0008354", "evidence": [ { "database": "UniProtKB", "id": "P39768", "url": "https://www.uniprot.org/uniprotkb/P39768" } ], "pmid": "" }, { "name": "periodic partitioning by pair rule gene", "id": "GO:0007366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007366", "evidence": [ { "database": "UniProtKB", "id": "P39768", "url": "https://www.uniprot.org/uniprotkb/P39768" } ], "pmid": "" }, { "name": "eye-antennal disc morphogenesis", "id": "GO:0007455", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007455", "evidence": [ { "database": "UniProtKB", "id": "P39768", "url": "https://www.uniprot.org/uniprotkb/P39768" } ], "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": "P39768", "url": "https://www.uniprot.org/uniprotkb/P39768" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA-binding 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"P54361-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P54361", "url": "https://www.uniprot.org/uniprotkb/P54361" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 254, "chemical_mass": 28283.0, "gene_names": "Oda;AZ;CG16747;D-AZ;Dmel\\CG16747;Dmel_CG16747;ODA;Oda;guf;l(2)02833;l(2)k09037;oda", "protein_name": "Ornithine decarboxylase antizyme", "disease": [ { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:4247", "name": "coronary restenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:4247", 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"reference_species": "Drosophila melanogaster [7227]" } ], "length": 614, "chemical_mass": 68302.0, "gene_names": "Vha68-2;A subunit;ATP6V1A;CG3762;Dmel\\CG3762;Dmel_CG3762;MENE-R6;RE30552p;VATA;VHAA2;Vha6-2;Vha68-2;Vha68.2;Vha68;l(2)01510;l(2)s4214;vha67-2;vha68-2", "protein_name": "V-type proton ATPase catalytic subunit A isoform 2", "disease": [ { "disease_id": "DOID:0070129", "name": "autosomal recessive cutis laxa type IID", "description": "An autosomal recessive cutis laxa type II classic type that is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial featuret and that has_material_basis_in homozygous mutation in the ATP6V1A gene on chromosome 3q13.", "url": "https://disease-ontology.org/term/DOID:0070129", "evidence": [ { "id": "0070129", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070129" } ], "weight": 0.0 }, { "disease_id": "DOID:0112275", "name": "developmental and epileptic encephalopathy 93", 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"kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q27331", "url": "https://www.uniprot.org/uniprotkb/Q27331" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q27331", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q27331" } ] } ] } ], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q01083-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q01083", "url": "https://www.uniprot.org/uniprotkb/Q01083" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 234, "chemical_mass": 26424.0, "gene_names": "spi;CG10334;CT29014;Dmel\\CG10334;Dmel_CG10334;EP(2)2378;Spitz;Spi;anon-WO0118547.158;l(2)01068;l(2)37Fa;l(2)s3547;s-spi;s.spi;sSpi;spi", "protein_name": "Protein spitz", "disease": [ { 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q01083", "url": "https://www.uniprot.org/uniprotkb/Q01083" } ], "pmid": "" } ], "biological_process": [ { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "Q01083", "url": "https://www.uniprot.org/uniprotkb/Q01083" } ], "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": "Q01083", "url": "https://www.uniprot.org/uniprotkb/Q01083" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q01083", "url": "https://www.uniprot.org/uniprotkb/Q01083" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q01083", "url": "https://www.uniprot.org/uniprotkb/Q01083" } ], "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": "Q01083", "url": "https://www.uniprot.org/uniprotkb/Q01083" } ], "pmid": "" }, { "name": "behavioral response to ethanol", "id": "GO:0048149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048149", "evidence": [ { "database": "UniProtKB", "id": "Q01083", "url": "https://www.uniprot.org/uniprotkb/Q01083" } ], "pmid": "" }, { "name": "epidermal growth factor receptor signaling pathway", "id": "GO:0007173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007173", "evidence": [ { "database": "UniProtKB", "id": "Q01083", "url": "https://www.uniprot.org/uniprotkb/Q01083" } ], 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}, { "name": "heart process", "id": "GO:0003015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003015", "evidence": [ { "database": "UniProtKB", "id": "Q01083", "url": "https://www.uniprot.org/uniprotkb/Q01083" } ], "pmid": "" }, { "name": "border follicle cell migration", "id": "GO:0007298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007298", "evidence": [ { "database": "UniProtKB", "id": "Q01083", "url": "https://www.uniprot.org/uniprotkb/Q01083" } ], "pmid": "" }, { "name": "dorsal closure", "id": "GO:0007391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007391", "evidence": [ { "database": "UniProtKB", "id": "Q01083", "url": "https://www.uniprot.org/uniprotkb/Q01083" } ], "pmid": "" }, { "name": "oenocyte development", "id": "GO:0007438", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007438", "evidence": [ { "database": "UniProtKB", "id": "Q01083", "url": "https://www.uniprot.org/uniprotkb/Q01083" } ], "pmid": "" }, { "name": "imaginal disc-derived wing morphogenesis", 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], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 530, "chemical_mass": 59920.0, "gene_names": "CaMKII;CAMKIIalpha;CAMKIId;CAMKII;CDPK1;CG18069;Ca2+/calmodulin-dependent protein kinase II;CaM II;CaM KII;CaM kinase;CaMK II;CaMK-II;CaMKII;CaMKii;CaM;Calcium/calmodulin-dependent protein kinase;CamK-II;CamKIIalpha;CamKII;Camkii;Cam;DCK;Dmel\\CG18069;Dmel_CG18069;calcium/calmodulin-dependent protein kinase II;camKII;camk II;camkII;camkii;dCAMKII;dCaMKII;l(4)102EFb;l(4)16;l(4)ar", "protein_name": "Calcium/calmodulin-dependent protein kinase type II alpha chain", "disease": [ { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. 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The infection has symptom spastic weakness of both legs, has symptom muscle stiffness, has symptom sensory disturbance, and has symptom spasms.", "url": "https://disease-ontology.org/term/DOID:321", "evidence": [ { "id": "321", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:321" } ], "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: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": 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"UniProtKB", "id": "P07909", "url": "https://www.uniprot.org/uniprotkb/P07909" } ], "pmid": "" }, { "name": "positive regulation of translation", "id": "GO:0045727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045727", "evidence": [ { "database": "UniProtKB", "id": "P07909", "url": "https://www.uniprot.org/uniprotkb/P07909" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "P07909", "url": "https://www.uniprot.org/uniprotkb/P07909" } ], "pmid": "" }, { "name": "negative regulation of RNA splicing", "id": "GO:0033119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033119", "evidence": [ { "database": "UniProtKB", "id": "P07909", "url": "https://www.uniprot.org/uniprotkb/P07909" } ], "pmid": "" }, { "name": "regulation of alternative mRNA splicing, via spliceosome", "id": "GO:0000381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000381", "evidence": [ { "database": "UniProtKB", "id": "P07909", "url": "https://www.uniprot.org/uniprotkb/P07909" } ], "pmid": "" }, { "name": "compound eye morphogenesis", "id": "GO:0001745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001745", "evidence": [ { "database": "UniProtKB", "id": "P07909", "url": "https://www.uniprot.org/uniprotkb/P07909" } ], "pmid": "" }, { "name": "female germ-line stem cell population maintenance", "id": "GO:0036099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036099", "evidence": [ { "database": "UniProtKB", "id": "P07909", "url": "https://www.uniprot.org/uniprotkb/P07909" } ], "pmid": "" }, { "name": "developmental process involved in reproduction", "id": "GO:0003006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003006", "evidence": [ { "database": "UniProtKB", "id": "P07909", "url": "https://www.uniprot.org/uniprotkb/P07909" } ], "pmid": "" } ], "molecular_function": [ { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "P07909", "url": "https://www.uniprot.org/uniprotkb/P07909" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "P07909", "url": "https://www.uniprot.org/uniprotkb/P07909" } ], "pmid": "" }, { "name": "mRNA 3'-UTR binding", "id": "GO:0003730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003730", "evidence": [ { "database": "UniProtKB", "id": "P07909", "url": "https://www.uniprot.org/uniprotkb/P07909" } ], "pmid": "" }, { "name": "mRNA 5'-UTR binding", "id": "GO:0048027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048027", "evidence": [ { "database": "UniProtKB", "id": "P07909", "url": "https://www.uniprot.org/uniprotkb/P07909" } ], "pmid": "" }, { "name": "poly(G) binding", "id": "GO:0034046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034046", "evidence": [ { "database": "UniProtKB", "id": "P07909", "url": "https://www.uniprot.org/uniprotkb/P07909" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "P07909", "url": "https://www.uniprot.org/uniprotkb/P07909" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P07909", "url": "https://www.uniprot.org/uniprotkb/P07909" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P07909", "url": "https://www.uniprot.org/uniprotkb/P07909" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "P07909", "url": "https://www.uniprot.org/uniprotkb/P07909" } ], "pmid": "" }, { "name": "polytene chromosome puff", "id": "GO:0005703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005703", "evidence": [ { "database": "UniProtKB", "id": "P07909", "url": "https://www.uniprot.org/uniprotkb/P07909" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q94511-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q94511", "url": "https://www.uniprot.org/uniprotkb/Q94511" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 731, "chemical_mass": 78630.0, "gene_names": "ND-75;CG2286;Dmel\\CG2286;Dmel_CG2286;ND-75;ND75;NDUFS1;NDUS1;NUAM;dNDUFS1", "protein_name": "NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial", "disease": [ { "disease_id": "DOID:0060536", "name": "mitochondrial complex I deficiency", "description": "A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded.", "url": "https://disease-ontology.org/term/DOID:0060536", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ], "weight": 0.0 }, { "disease_id": "DOID:0112068", "name": "nuclear type mitochondrial complex I deficiency 5", "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS1 gene on chromosome 2q33.3.", "url": "https://disease-ontology.org/term/DOID:0112068", "evidence": [ { "id": "0112068", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112068" } ], "weight": 0.0 }, { "disease_id": "DOID:655", "name": "inherited metabolic disorder", "description": "A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal 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"UniProtKB", "id": "Q94511", "url": "https://www.uniprot.org/uniprotkb/Q94511" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q94511", "url": "https://www.uniprot.org/uniprotkb/Q94511" } ], "pmid": "" }, { "name": "4 iron, 4 sulfur cluster binding", "id": "GO:0051539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051539", "evidence": [ { "database": "UniProtKB", "id": "Q94511", "url": "https://www.uniprot.org/uniprotkb/Q94511" } ], "pmid": "" }, { "name": "2 iron, 2 sulfur cluster binding", "id": "GO:0051537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051537", "evidence": [ { "database": "UniProtKB", "id": "Q94511", "url": "https://www.uniprot.org/uniprotkb/Q94511" } ], "pmid": "" }, { "name": "NADH dehydrogenase (ubiquinone) activity", "id": "GO:0008137", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008137", "evidence": [ { "database": "UniProtKB", "id": "Q94511", "url": "https://www.uniprot.org/uniprotkb/Q94511" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on NAD(P)H", "id": "GO:0016651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016651", "evidence": [ { "database": "UniProtKB", "id": "Q94511", "url": "https://www.uniprot.org/uniprotkb/Q94511" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial respiratory chain complex I assembly", "id": "GO:0032981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032981", "evidence": [ { "database": "UniProtKB", "id": "Q94511", "url": "https://www.uniprot.org/uniprotkb/Q94511" } ], "pmid": "" }, { "name": "reactive oxygen species metabolic process", "id": "GO:0072593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072593", "evidence": [ { "database": "UniProtKB", "id": "Q94511", "url": "https://www.uniprot.org/uniprotkb/Q94511" } ], "pmid": "" }, { "name": "mitochondrial electron transport, NADH to ubiquinone", "id": "GO:0006120", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006120", "evidence": [ { "database": "UniProtKB", "id": "Q94511", "url": "https://www.uniprot.org/uniprotkb/Q94511" } ], "pmid": "" }, { "name": "cellular respiration", "id": "GO:0045333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045333", "evidence": [ { "database": "UniProtKB", "id": "Q94511", "url": "https://www.uniprot.org/uniprotkb/Q94511" } ], "pmid": "" }, { "name": "ATP synthesis coupled electron transport", "id": "GO:0042773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042773", "evidence": [ { "database": "UniProtKB", "id": "Q94511", "url": "https://www.uniprot.org/uniprotkb/Q94511" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q94511-1", "start_pos": "562", "end_pos": "562", "site_lbl": "Thr562", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 562, "start_aa": "Thr", "end_pos": 562, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr562", "evidence": [ { "id": "40245499", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40245499" }, { "id": "Q94511", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q94511" } ] } ] } ], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "P36188-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P36188", "url": "https://www.uniprot.org/uniprotkb/P36188" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 269, "chemical_mass": 30082.0, "gene_names": "wupA;CG7178;DROTROPONI;DmTpnI;Dmel\\CG7178;Dmel_CG7178;HDP;HL-I;HL08042;HLI;Hdp;Tn I;TnI;TpnI;WupA;chrX:17947374..17947524;fliH;hdp-a;hdp2;hdp;wup-A;wupA;wupa", "protein_name": "Troponin I", "disease": [ { "disease_id": "DOID:0050646", "name": "distal arthrogryposis", "description": "A muscle tissue disease characterized by congenital joint contractures of hand and feet.", "url": "https://disease-ontology.org/term/DOID:0050646", "evidence": [ { "id": "0050646", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050646" } ], "weight": 0.0 }, { "disease_id": "DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:0050700", "evidence": [ { "id": "0050700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050700" } ], "weight": 0.0 }, { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:0080954", "name": "arthrogryposis multiplex congenita", "description": "A nervous system disease that is characterized by development of multiple joint contractures affecting two or more areas of the body prior to birth.", "url": "https://disease-ontology.org/term/DOID:0080954", "evidence": [ { "id": "0080954", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080954" } ], "weight": 0.0 }, { "disease_id": "DOID:0110313", "name": "hypertrophic cardiomyopathy 7", "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNI3 gene on chromosome 19q13.4.", "url": "https://disease-ontology.org/term/DOID:0110313", "evidence": [ { "id": "0110313", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110313" } ], "weight": 0.0 }, { "disease_id": "DOID:0110459", "name": "dilated cardiomyopathy 1FF", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13.42.", "url": "https://disease-ontology.org/term/DOID:0110459", "evidence": [ { "id": "0110459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110459" } ], "weight": 0.0 }, { "disease_id": "DOID:0110460", "name": "dilated cardiomyopathy 2A", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13.", "url": "https://disease-ontology.org/term/DOID:0110460", "evidence": [ { "id": "0110460", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110460" } ], "weight": 0.0 }, { "disease_id": "DOID:0111425", "name": "familial restrictive cardiomyopathy 1", "description": "A restrictive cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNI3 gene on chromosome 19q13.42.", "url": "https://disease-ontology.org/term/DOID:0111425", "evidence": [ { "id": "0111425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111425" } ], "weight": 0.0 }, { "disease_id": "DOID:0111600", "name": "distal arthrogryposis type 2B1", "description": "A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the TNNI2 gene on chromosome 11p15.5.", "url": "https://disease-ontology.org/term/DOID:0111600", "evidence": [ { "id": "0111600", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111600" } ], "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:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "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:299", "name": "adenocarcinoma", "description": "A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue.", "url": "https://disease-ontology.org/term/DOID:299", "evidence": [ { "id": "299", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:299" } ], "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:397", "name": "restrictive cardiomyopathy", "description": "An intrinsic cardiomyopathy characterized by impaired ventricular filling, with normal or decreased diastolic volume of either or both ventricles typically resulting from increased stiffness of the myocardium.", "url": "https://disease-ontology.org/term/DOID:397", "evidence": [ { "id": "397", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:397" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "P36188", "url": "https://www.uniprot.org/uniprotkb/P36188" } ], "pmid": "" } ], "biological_process": [ { "name": "muscle contraction", "id": "GO:0006936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006936", "evidence": [ { "database": "UniProtKB", "id": "P36188", "url": "https://www.uniprot.org/uniprotkb/P36188" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "P36188", "url": "https://www.uniprot.org/uniprotkb/P36188" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P36188", "url": "https://www.uniprot.org/uniprotkb/P36188" } ], "pmid": "" }, { "name": "muscle cell cellular homeostasis", "id": "GO:0046716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046716", "evidence": [ { "database": "UniProtKB", "id": "P36188", "url": "https://www.uniprot.org/uniprotkb/P36188" } ], "pmid": "" }, { "name": "heart contraction", "id": "GO:0060047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060047", "evidence": [ { "database": "UniProtKB", "id": "P36188", "url": "https://www.uniprot.org/uniprotkb/P36188" } ], "pmid": "" }, { "name": "muscle organ development", "id": "GO:0007517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007517", "evidence": [ { "database": "UniProtKB", "id": "P36188", "url": "https://www.uniprot.org/uniprotkb/P36188" } ], "pmid": "" }, { "name": "cardiac muscle 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years of life that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q23.", "url": "https://disease-ontology.org/term/DOID:0060965", "evidence": [ { "id": "0060965", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060965" } ], "weight": 0.0 }, { "disease_id": "DOID:0070149", "name": "hereditary sensory and autonomic neuropathy type 7", "description": "A hereditary sensory and autonomic neuropathy characterized by insensitivity to pain, mild muscle weakness, delayed motor development, hyperhidrosis and gastrointestinal dysfunction that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22.", "url": "https://disease-ontology.org/term/DOID:0070149", "evidence": [ { "id": "0070149", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070149" } ], "weight": 0.0 }, { "disease_id": "DOID:0070379", "name": "developmental and epileptic encephalopathy 6B", "description": "A developmental and epileptic encephalopathy characterized by early-infantile seizure onset, profoundly impaired intellectual development, and a hyperkinetic movement disorder that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24.", "url": "https://disease-ontology.org/term/DOID:0070379", "evidence": [ { "id": "0070379", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070379" } ], "weight": 0.0 }, { "disease_id": "DOID:0080420", "name": "developmental and epileptic encephalopathy 62", "description": "A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first weeks or months of life, severe to profound developmental delay, hypotonia, and impaired motor and cognitive development that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24.", "url": "https://disease-ontology.org/term/DOID:0080420", "evidence": [ { "id": "0080420", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080420" } ], "weight": 0.0 }, { "disease_id": "DOID:0080421", "name": "developmental and epileptic encephalopathy 11", "description": "A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurologic development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q24.", "url": "https://disease-ontology.org/term/DOID:0080421", "evidence": [ { "id": "0080421", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080421" } ], "weight": 0.0 }, { "disease_id": "DOID:0080422", "name": "Dravet syndrome", "description": "A developmental and epileptic encephalopathy characterized by onset of seizures that are usually refractory to treatment in the first year of life after normal early development and impaired psychomoter development starting around the second year of life that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24.", "url": "https://disease-ontology.org/term/DOID:0080422", "evidence": [ { "id": "0080422", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080422" } ], "weight": 0.0 }, { "disease_id": "DOID:0080445", "name": "developmental and epileptic encephalopathy 13", "description": "A developmental and epileptic encephalopathy characterized by onset of intractable seizures in the first year of life with impaired development or developmental regression after seizure onset that has_material_basis_in heterozygous mutation in the SCN8A gene on chromosome 12q13.", "url": "https://disease-ontology.org/term/DOID:0080445", "evidence": [ { "id": "0080445", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080445" } ], "weight": 0.0 }, { "disease_id": "DOID:0081116", "name": "benign familial infantile seizures 3", "description": "A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutations in the SCN2A gene on chromosome 2q24.", "url": "https://disease-ontology.org/term/DOID:0081116", "evidence": [ { "id": "0081116", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081116" } ], "weight": 0.0 }, { "disease_id": "DOID:0081118", "name": "benign familial infantile seizures 5", "description": "A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the SCN8A gene on chromosome 12q13.", "url": "https://disease-ontology.org/term/DOID:0081118", "evidence": [ { "id": "0081118", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081118" } ], "weight": 0.0 }, { "disease_id": "DOID:0081354", "name": "congenital myopathy 22A", "description": "A congenital myopathy that is characterized by onset of muscle weakness in utero or soon after birth and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. Biallelic mutation in the SCN4A gene also causes severe fetal congenital myopathy 22B.", "url": "https://disease-ontology.org/term/DOID:0081354", "evidence": [ { "id": "0081354", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081354" } ], "weight": 0.0 }, { "disease_id": "DOID:0081355", "name": "congenital myopathy 22B", "description": "A congenital myopathy that is characterized by in utero onset of severe muscle weakness manifest as fetal akinesia and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23.", "url": "https://disease-ontology.org/term/DOID:0081355", "evidence": [ { "id": "0081355", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081355" } ], "weight": 0.0 }, { "disease_id": "DOID:0081424", "name": "familial focal epilepsy with variable foci 4", "description": "A familial focal epilepsy with variable foci that is characterized by onset of focal seizures in the first years of life and that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24.", "url": "https://disease-ontology.org/term/DOID:0081424", "evidence": [ { "id": "0081424", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081424" } ], "weight": 0.0 }, { "disease_id": "DOID:0110218", "name": "Brugada syndrome 1", "description": "A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN5A gene on chromosome 3p22.", "url": "https://disease-ontology.org/term/DOID:0110218", "evidence": [ { "id": "0110218", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110218" } ], "weight": 0.0 }, { "disease_id": "DOID:0110433", "name": "dilated cardiomyopathy 1E", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the SCN5A gene on chromosome 3p22.2.", "url": "https://disease-ontology.org/term/DOID:0110433", "evidence": [ { "id": "0110433", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110433" } ], "weight": 0.0 }, { "disease_id": "DOID:0110646", "name": "long QT syndrome 3", "description": "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SCN5A gene on chromosome 3p22.2.", "url": "https://disease-ontology.org/term/DOID:0110646", "evidence": [ { "id": "0110646", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110646" } ], "weight": 0.0 }, { "disease_id": "DOID:0110682", "name": "congenital myasthenic syndrome 16", "description": "A congenital myasthenic syndrome that has_material_basis_in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23.", "url": "https://disease-ontology.org/term/DOID:0110682", "evidence": [ { "id": "0110682", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110682" } ], "weight": 0.0 }, { "disease_id": "DOID:0111074", "name": "progressive familial heart block type IA", "description": "A progressive familial heart block characterized by autosomal dominant inheritance of cardiac bundle branch disorder that may progress to complete heart block that has_material_basis_in mutation in the SCN5A gene on chromosome 3p21.", "url": "https://disease-ontology.org/term/DOID:0111074", "evidence": [ { "id": "0111074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111074" } ], "weight": 0.0 }, { "disease_id": "DOID:0111183", "name": "familial hemiplegic migraine 3", "description": "A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in SCN1A on 2q24.3.", "url": "https://disease-ontology.org/term/DOID:0111183", "evidence": [ { "id": "0111183", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111183" } ], "weight": 0.0 }, { "disease_id": "DOID:0111294", "name": "generalized epilepsy with febrile seizures plus 2", "description": "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1A on chromosome 2q24.3.", "url": "https://disease-ontology.org/term/DOID:0111294", "evidence": [ { "id": "0111294", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111294" } ], "weight": 0.0 }, { "disease_id": "DOID:0111537", "name": "paroxysmal extreme pain disorder", "description": "An autonomic nervous system disease characterized by onset in the neonatal period or infancy of paroxysms of rectal, ocular, or submandibular pain with flushing that has_material_basis_in heterozygous mutation in the SCN9A gene on chromosome 2q24.3.", "url": "https://disease-ontology.org/term/DOID:0111537", "evidence": [ { "id": "0111537", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111537" } ], "weight": 0.0 }, { "disease_id": "DOID:0111538", "name": "paramyotonia congenita of Von Eulenburg", "description": "A neuromuscular disease characterized by onset in infancy or early childhood of bouts of myotonia and muscle weakness that are increased by cold exposure that has_material_basis_in heterozygous mutation in the SCN4A gene on chromosome 17q23.3.", "url": "https://disease-ontology.org/term/DOID:0111538", "evidence": [ { "id": "0111538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111538" } ], "weight": 0.0 }, { "disease_id": "DOID:0111730", "name": "familial episodic pain syndrome 2", "description": "A familial episodic pain syndrome characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities that has_material_basis_in heterozygous mutation in the SCN10A gene on chromosome 3p22.", "url": "https://disease-ontology.org/term/DOID:0111730", "evidence": [ { "id": "0111730", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111730" } ], "weight": 0.0 }, { "disease_id": "DOID:0111731", "name": "familial episodic pain syndrome 3", "description": "A familial episodic pain syndrome characterized by early childhood onset of intense episodic pain mainly affecting the distal lower extremities, but sometimes also the upper extremities, with pain cycles lasting several days and exacerbated by fatigue that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22.", "url": "https://disease-ontology.org/term/DOID:0111731", "evidence": [ { "id": "0111731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111731" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:13884", "name": "sick sinus syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:13884", "evidence": [ { "id": "13884", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13884" } ], "weight": 0.0 }, { "disease_id": "DOID:14451", "name": "hyperkalemic periodic paralysis", "description": "", "url": "https://disease-ontology.org/term/DOID:14451", "evidence": [ { "id": "14451", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14451" } ], "weight": 0.0 }, { "disease_id": "DOID:14452", "name": "hypokalemic periodic paralysis", "description": "", "url": "https://disease-ontology.org/term/DOID:14452", "evidence": [ { "id": "14452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14452" } ], "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:2030", "name": "anxiety disorder", "description": "A cognitive disorder that involves an excessive, irrational dread of everyday situations.", "url": "https://disease-ontology.org/term/DOID:2030", "evidence": [ { "id": "2030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2030" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:2843", "name": "long QT syndrome", "description": "An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles).", "url": "https://disease-ontology.org/term/DOID:2843", "evidence": [ { "id": "2843", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2843" } ], "weight": 0.0 }, { "disease_id": "DOID:3454", "name": "brain infarction", "description": "A cerebrovascular disease that is characterized by tissue necrosis located_in the brain, resulting from inadequate blood flow through the brain.", "url": "https://disease-ontology.org/term/DOID:3454", "evidence": [ { "id": "3454", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3454" } ], "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:9007", "name": "sudden infant death syndrome", "description": "A syndrome that is characterized by the sudden death of an infant that is not predicted by medical history and remains unexplained after a thorough forensic autopsy and detailed death scene investigation.", "url": "https://disease-ontology.org/term/DOID:9007", "evidence": [ { "id": "9007", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9007" } ], "weight": 0.0 }, { "disease_id": "DOID:9240", "name": "erythromelalgia", "description": "A neuropathy that is characterized by intense, burning pain of affected extremities, severe redness and increased skin temperature.", "url": "https://disease-ontology.org/term/DOID:9240", "evidence": 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"database": "UniProtKB", "id": "P35500", "url": "https://www.uniprot.org/uniprotkb/P35500" } ], "pmid": "" }, { "name": "membrane depolarization during action potential", "id": "GO:0086010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086010", "evidence": [ { "database": "UniProtKB", "id": "P35500", "url": "https://www.uniprot.org/uniprotkb/P35500" } ], "pmid": "" }, { "name": "response to mechanical stimulus", "id": "GO:0009612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009612", "evidence": [ { "database": "UniProtKB", "id": "P35500", "url": "https://www.uniprot.org/uniprotkb/P35500" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "P35500", "url": "https://www.uniprot.org/uniprotkb/P35500" } ], "pmid": "" }, { "name": "sodium ion transmembrane transport", "id": "GO:0035725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035725", "evidence": [ 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"" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P31409", "url": "https://www.uniprot.org/uniprotkb/P31409" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P31409", "url": "https://www.uniprot.org/uniprotkb/P31409" } ], "pmid": "" }, { "name": "brush border", "id": "GO:0005903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005903", "evidence": [ { "database": "UniProtKB", "id": "P31409", "url": "https://www.uniprot.org/uniprotkb/P31409" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P31409", "url": "https://www.uniprot.org/uniprotkb/P31409" } ], "pmid": "" }, { "name": "vacuolar proton-transporting V-type ATPase, V1 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"" }, { "name": "vacuolar acidification", "id": "GO:0007035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007035", "evidence": [ { "database": "UniProtKB", "id": "P31409", "url": "https://www.uniprot.org/uniprotkb/P31409" } ], "pmid": "" }, { "name": "proton transmembrane transport", "id": "GO:1902600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902600", "evidence": [ { "database": "UniProtKB", "id": "P31409", "url": "https://www.uniprot.org/uniprotkb/P31409" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q24572-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q24572", "url": "https://www.uniprot.org/uniprotkb/Q24572" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 430, "chemical_mass": 48635.0, "gene_names": "Caf1-55;154659_at;48;55;CAF-1 p55;CAF-1;CAF1-55;CAF1-p55;CAF1p55;CAF1;CG4236;Caf-1;Caf1 (p55);Caf1-55;Caf1-p55;Caf1/p55;Caf1p55;Caf1;Dmel\\CG4236;Dmel_CG4236;LIN-53;MSI1/RbAp48/CAC3/LIN-53;NURF 55;NURF-55;NURF55;NURF;Nurf 55;Nurf-55;Nurf55;Nurf;P55;RBAP48;RbAp46/48;RbAp48;S(ls)3;caf-1;caf1 p55;caf1-55;caf1;d-CAF1;dCAF-1 p55;dCAF-1-p55;dCAF-1;dCAF1-p55;dCAF1;dNURF;dp55;nurf55;p55 CAF1;p55/NURF-55;p55CAF1;p55", "protein_name": "Chromatin assembly factor 1 p55 subunit", "disease": [ { "disease_id": "DOID:0061177", "name": "X-linked spermatogenic failure 9", "description": "A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia resulting from maturation arrest that has_material_basis_in hemizygous mutation in the RBBP7 gene on chromosome Xp22.", "url": "https://disease-ontology.org/term/DOID:0061177", "evidence": [ { "id": "0061177", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061177" } ], "weight": 0.0 }, { "disease_id": "DOID:14227", "name": "azoospermia", "description": "A male infertility disease characterized by the absence of any measurable level of sperm in semen.", "url": "https://disease-ontology.org/term/DOID:14227", "evidence": [ { "id": "14227", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14227" } ], "weight": 0.0 } ], "biological_process": [ { "name": "nucleosome organization", "id": "GO:0034728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034728", "evidence": [ { "database": "UniProtKB", "id": "Q24572", "url": "https://www.uniprot.org/uniprotkb/Q24572" } ], "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": "Q24572", "url": "https://www.uniprot.org/uniprotkb/Q24572" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "Q24572", "url": "https://www.uniprot.org/uniprotkb/Q24572" } ], "pmid": "" }, { "name": "regulation of mitotic cell cycle", "id": "GO:0007346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007346", "evidence": [ { "database": "UniProtKB", "id": "Q24572", "url": "https://www.uniprot.org/uniprotkb/Q24572" } ], "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": "Q24572", "url": "https://www.uniprot.org/uniprotkb/Q24572" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "Q24572", "url": "https://www.uniprot.org/uniprotkb/Q24572" } ], "pmid": "" }, { "name": "segment specification", "id": "GO:0007379", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007379", "evidence": [ { "database": "UniProtKB", "id": "Q24572", "url": "https://www.uniprot.org/uniprotkb/Q24572" } ], "pmid": "" }, { "name": "DNA replication-dependent chromatin assembly", "id": "GO:0006335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006335", "evidence": [ { "database": "UniProtKB", "id": "Q24572", "url": "https://www.uniprot.org/uniprotkb/Q24572" } ], "pmid": "" }, { "name": "heterochromatin formation", "id": "GO:0031507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031507", "evidence": [ { "database": "UniProtKB", "id": "Q24572", "url": "https://www.uniprot.org/uniprotkb/Q24572" } ], "pmid": "" }, { "name": "eggshell chorion gene amplification", "id": "GO:0007307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007307", "evidence": [ { "database": "UniProtKB", "id": "Q24572", "url": "https://www.uniprot.org/uniprotkb/Q24572" } ], "pmid": "" }, { "name": "facultative heterochromatin formation", "id": "GO:0140718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140718", "evidence": [ { "database": "UniProtKB", "id": "Q24572", "url": "https://www.uniprot.org/uniprotkb/Q24572" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q24572", "url": "https://www.uniprot.org/uniprotkb/Q24572" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "Q24572", "url": "https://www.uniprot.org/uniprotkb/Q24572" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q24572", "url": "https://www.uniprot.org/uniprotkb/Q24572" } ], "pmid": "" }, { "name": "ESC/E(Z) complex", "id": "GO:0035098", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0031523", "evidence": [ { "database": "UniProtKB", "id": "Q24572", "url": "https://www.uniprot.org/uniprotkb/Q24572" } ], "pmid": "" }, { "name": "CAF-1 complex", "id": "GO:0033186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033186", "evidence": [ { "database": "UniProtKB", "id": "Q24572", "url": "https://www.uniprot.org/uniprotkb/Q24572" } ], "pmid": "" }, { "name": "Sin3-type complex", "id": "GO:0070822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070822", "evidence": [ { "database": "UniProtKB", "id": "Q24572", "url": "https://www.uniprot.org/uniprotkb/Q24572" } ], "pmid": "" }, { "name": "NuRD complex", "id": "GO:0016581", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016581", "evidence": [ { "database": "UniProtKB", "id": "Q24572", "url": "https://www.uniprot.org/uniprotkb/Q24572" } ], "pmid": "" }, { "name": "polytene chromosome", "id": "GO:0005700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005700", "evidence": [ { "database": "UniProtKB", "id": "Q24572", "url": "https://www.uniprot.org/uniprotkb/Q24572" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q24572", "url": "https://www.uniprot.org/uniprotkb/Q24572" } ], "pmid": "" }, { "name": "histone deacetylase binding", "id": "GO:0042826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042826", "evidence": [ { "database": "UniProtKB", "id": "Q24572", "url": "https://www.uniprot.org/uniprotkb/Q24572" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q24572", "url": "https://www.uniprot.org/uniprotkb/Q24572" } ], "pmid": "" }, { "name": "histone binding", "id": "GO:0042393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042393", "evidence": [ { "database": "UniProtKB", "id": "Q24572", "url": "https://www.uniprot.org/uniprotkb/Q24572" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q24572-1", "start_pos": "100", "end_pos": "100", "site_lbl": "Ser100", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q24572", "url": "https://www.uniprot.org/uniprotkb/Q24572" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q24572", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q24572" } ] } ] }, { "uniprot_canonical_ac": "Q24572-1", "start_pos": "11", "end_pos": "11", "site_lbl": "Ser11", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q24572", "url": 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7227, "evidence": [ { "database": "UniProtKB", "id": "P02516", "url": "https://www.uniprot.org/uniprotkb/P02516" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 186, "chemical_mass": 20629.0, "gene_names": "Hsp23;22;23;CG4463;DmHSP23;DmHsp23;Dmel20.6;Dmel\\CG4463;Dmel_CG4463;HSP23/IAP;HSP23;Hsp-23;Hsp23;IAP;hsp 22K;hsp 23K;hsp 23;hsp-23;hsp23/22;hsp23;small hsp locus 67B", "protein_name": "Heat shock protein 23", "disease": [ { "disease_id": "DOID:0080093", "name": "adult-onset myofibrillar myopathy 2A", "description": "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23.", "url": "https://disease-ontology.org/term/DOID:0080093", "evidence": [ { "id": "0080093", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080093" } ], "weight": 0.0 }, { "disease_id": "DOID:0080309", "name": "infantile-onset myofibrillar 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The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:0060246", "name": "MASA syndrome", "description": "A hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range.", "url": "https://disease-ontology.org/term/DOID:0060246", "evidence": [ { "id": "0060246", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060246" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, 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"url": "https://www.alliancegenome.org/disease/DOID:10908" } ], "weight": 0.0 }, { "disease_id": "DOID:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:1459", "evidence": [ { "id": "1459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "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: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:2030", "name": "anxiety disorder", "description": "A cognitive disorder that involves an excessive, irrational dread of everyday situations.", "url": "https://disease-ontology.org/term/DOID:2030", "evidence": [ { "id": "2030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2030" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3312", "name": "bipolar disorder", "description": "A mood disorder that involves alternating periods of mania and depression.", "url": "https://disease-ontology.org/term/DOID:3312", "evidence": [ { "id": "3312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3312" } ], "weight": 0.0 }, { "disease_id": "DOID:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ], "weight": 0.0 }, { "disease_id": "DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus.", "url": "https://disease-ontology.org/term/DOID:363", "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ], "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:4001", "name": "ovarian carcinoma", "description": "An ovarian cancer that has_material_basis_in epithelial tissue and is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:4001", "evidence": [ { "id": "4001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4001" } ], "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: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": "male courtship behavior", "id": "GO:0008049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008049", "evidence": [ { "database": "UniProtKB", "id": "P20241", "url": "https://www.uniprot.org/uniprotkb/P20241" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "P20241", "url": "https://www.uniprot.org/uniprotkb/P20241" } ], "pmid": "" }, { "name": "synapse organization", "id": "GO:0050808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050808", "evidence": [ { "database": "UniProtKB", "id": "P20241", "url": "https://www.uniprot.org/uniprotkb/P20241" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "P20241", "url": 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}, { "name": "motor neuron axon guidance", "id": "GO:0008045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008045", "evidence": [ { "database": "UniProtKB", "id": "P20241", "url": "https://www.uniprot.org/uniprotkb/P20241" } ], "pmid": "" }, { "name": "establishment of glial blood-brain barrier", "id": "GO:0060857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060857", "evidence": [ { "database": "UniProtKB", "id": "P20241", "url": "https://www.uniprot.org/uniprotkb/P20241" } ], "pmid": "" }, { "name": "nerve maturation", "id": "GO:0021682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021682", "evidence": [ { "database": "UniProtKB", "id": "P20241", "url": "https://www.uniprot.org/uniprotkb/P20241" } ], "pmid": "" }, { "name": "regulation of female receptivity", "id": "GO:0045924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045924", "evidence": [ { "database": "UniProtKB", "id": "P20241", "url": "https://www.uniprot.org/uniprotkb/P20241" } ], "pmid": "" }, { "name": "cell adhesion involved in heart morphogenesis", "id": "GO:0061343", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061343", "evidence": [ { "database": "UniProtKB", "id": "P20241", "url": "https://www.uniprot.org/uniprotkb/P20241" } ], "pmid": "" }, { "name": "female courtship behavior", "id": "GO:0008050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008050", "evidence": [ { "database": "UniProtKB", "id": "P20241", "url": "https://www.uniprot.org/uniprotkb/P20241" } ], "pmid": "" }, { "name": "imaginal disc morphogenesis", "id": "GO:0007560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007560", "evidence": [ { "database": "UniProtKB", "id": "P20241", "url": "https://www.uniprot.org/uniprotkb/P20241" } ], "pmid": "" }, { "name": "mushroom body development", "id": "GO:0016319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016319", "evidence": [ { "database": "UniProtKB", "id": "P20241", "url": "https://www.uniprot.org/uniprotkb/P20241" } ], "pmid": "" }, { "name": "septate junction 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cell axon guidance", "id": "GO:0072499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072499", "evidence": [ { "database": "UniProtKB", "id": "P20241", "url": "https://www.uniprot.org/uniprotkb/P20241" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P20241", "url": "https://www.uniprot.org/uniprotkb/P20241" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P20241", "url": "https://www.uniprot.org/uniprotkb/P20241" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P20241", "url": "https://www.uniprot.org/uniprotkb/P20241" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0009966", "evidence": [ { "database": "UniProtKB", "id": "Q07436", "url": "https://www.uniprot.org/uniprotkb/Q07436" } ], "pmid": "" }, { "name": "regulation of cell differentiation", "id": "GO:0045595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045595", "evidence": [ { "database": "UniProtKB", "id": "Q07436", "url": "https://www.uniprot.org/uniprotkb/Q07436" } ], "pmid": "" }, { "name": "positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032436", "evidence": [ { "database": "UniProtKB", "id": "Q07436", "url": "https://www.uniprot.org/uniprotkb/Q07436" } ], "pmid": "" }, { "name": "regulation of exit from mitosis", "id": "GO:0007096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007096", "evidence": [ { "database": "UniProtKB", "id": "Q07436", "url": "https://www.uniprot.org/uniprotkb/Q07436" } ], "pmid": "" }, { "name": "endocytic recycling", "id": "GO:0032456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032456", "evidence": [ { "database": "UniProtKB", "id": "Q07436", "url": "https://www.uniprot.org/uniprotkb/Q07436" } ], "pmid": "" }, { "name": "negative regulation of TORC1 signaling", "id": "GO:1904262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904262", "evidence": [ { "database": "UniProtKB", "id": "Q07436", "url": "https://www.uniprot.org/uniprotkb/Q07436" } ], "pmid": "" }, { "name": "positive regulation of hippo signaling", "id": "GO:0035332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035332", "evidence": [ { "database": "UniProtKB", "id": "Q07436", "url": "https://www.uniprot.org/uniprotkb/Q07436" } ], "pmid": "" }, { "name": "compound eye morphogenesis", "id": "GO:0001745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001745", "evidence": [ { "database": "UniProtKB", "id": "Q07436", "url": "https://www.uniprot.org/uniprotkb/Q07436" } ], "pmid": "" }, { "name": "compound eye photoreceptor cell differentiation", "id": "GO:0001751", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001751", "evidence": [ { "database": "UniProtKB", "id": "Q07436", "url": "https://www.uniprot.org/uniprotkb/Q07436" } ], "pmid": "" }, { "name": "border follicle cell migration", "id": "GO:0007298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007298", "evidence": [ { "database": "UniProtKB", "id": "Q07436", "url": "https://www.uniprot.org/uniprotkb/Q07436" } ], "pmid": "" }, { "name": "follicle cell of egg chamber development", "id": "GO:0030707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030707", "evidence": [ { "database": "UniProtKB", "id": "Q07436", "url": "https://www.uniprot.org/uniprotkb/Q07436" } ], "pmid": "" }, { "name": "negative regulation of imaginal disc growth", "id": "GO:0045571", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045571", "evidence": [ { "database": "UniProtKB", "id": "Q07436", "url": "https://www.uniprot.org/uniprotkb/Q07436" } ], "pmid": "" }, { "name": "animal organ morphogenesis", "id": "GO:0009887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", "evidence": [ { "database": "UniProtKB", "id": "Q07436", "url": "https://www.uniprot.org/uniprotkb/Q07436" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "Q07436", "url": "https://www.uniprot.org/uniprotkb/Q07436" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasmic side of apical plasma membrane", "id": "GO:0098592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098592", "evidence": [ { "database": "UniProtKB", "id": "Q07436", "url": "https://www.uniprot.org/uniprotkb/Q07436" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q07436", "url": "https://www.uniprot.org/uniprotkb/Q07436" } ], "pmid": "" }, { "name": "apical 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"protein_name": "Tyrosine-protein kinase Btk", "disease": [ { "disease_id": "DOID:0050746", "name": "mantle cell lymphoma", "description": "A B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles.", "url": "https://disease-ontology.org/term/DOID:0050746", "evidence": [ { "id": "0050746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050746" } ], "weight": 0.0 }, { "disease_id": "DOID:0060707", "name": "lymphoproliferative syndrome 1", "description": "A lymphoproliferative syndrome characterized by autosomal recessive inheritance, early childhood onset of Epstein-Barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and-or hypogammaglobulinemia and that has_material_basis_in homozygous mutation in the ITK gene on chromosome 5q32.", "url": "https://disease-ontology.org/term/DOID:0060707", "evidence": [ { "id": "0060707", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060707" } ], "weight": 0.0 }, { "disease_id": "DOID:0060875", "name": "isolated growth hormone deficiency type III", "description": "An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has_material_basis_in mutation in the BTK gene on chromosome Xq22.1.", "url": "https://disease-ontology.org/term/DOID:0060875", "evidence": [ { "id": "0060875", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060875" } ], "weight": 0.0 }, { "disease_id": "DOID:0080600", "name": "COVID-19", "description": "A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a subtype of Betacoronavirus pandemicum.", "url": "https://disease-ontology.org/term/DOID:0080600", "evidence": [ { "id": "0080600", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080600" } ], "weight": 0.0 }, { "disease_id": "DOID:14179", "name": "X-linked agammaglobulinemia", "description": "An agammaglobulinemia that is that has_material_basis_in a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement.", "url": "https://disease-ontology.org/term/DOID:14179", "evidence": [ { "id": "14179", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14179" } ], "weight": 0.0 }, { "disease_id": "DOID:1556", "name": "arthus reaction", "description": "A hypersensitivity reaction type III disease that is characterized by local vasculitis, has_symptom pain, edema, hemorrhage, or necrosis, and has_material_basis_in deposition of antigen-antibody immune complexes in vascular or serosal walls.", "url": "https://disease-ontology.org/term/DOID:1556", "evidence": [ { "id": "1556", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1556" } ], "weight": 0.0 }, { "disease_id": "DOID:2583", "name": "agammaglobulinemia", "description": "A B cell deficiency that is caused by a reduction in all types of gamma globulins.", "url": "https://disease-ontology.org/term/DOID:2583", "evidence": [ { "id": "2583", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2583" } ], "weight": 0.0 }, { "disease_id": "DOID:3234", "name": "central nervous system lymphoma", "description": "A hematologic cancer that has_material_basis_in lymphoma located_in central nervous system.", "url": "https://disease-ontology.org/term/DOID:3234", "evidence": [ { "id": "3234", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3234" } ], "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:707", "name": "B-cell lymphoma", "description": "A non-Hodgkin lymphoma that has_material_basis_in B cells.", "url": "https://disease-ontology.org/term/DOID:707", "evidence": [ { "id": "707", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:707" } ], "weight": 0.0 }, { "disease_id": "DOID:8584", "name": "Burkitt lymphoma", "description": "A mature B-cell neoplasm of B-cells found in the germinal center.", "url": "https://disease-ontology.org/term/DOID:8584", "evidence": [ { "id": "8584", "database": "AGR", "url": 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Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.", "url": "https://disease-ontology.org/term/DOID:11650", "evidence": [ { "id": "11650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ], "weight": 0.0 }, { "disease_id": "DOID:1184", "name": "nephrotic syndrome", "description": "A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability.", "url": "https://disease-ontology.org/term/DOID:1184", "evidence": [ { "id": "1184", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1184" } ], "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:12894", "name": "Sjogren's syndrome", "description": "An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.", "url": "https://disease-ontology.org/term/DOID:12894", "evidence": [ { "id": "12894", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12894" } ], "weight": 0.0 }, { "disease_id": "DOID: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:13250", "name": "diarrhea", "description": "A gastrointestinal system disease described as the condition of having frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. The loss of fluids through diarrhea can cause severe dehydration which is one cause of death in diarrhea sufferers. Along with water, sufferers also lose dangerous amounts of important salts, electrolytes, and other nutrients. There are at least four types of diarrhea: secretory diarrhea, osmotic diarrhea, motility-related diarrhea, and inflammatory diarrhea.", "url": "https://disease-ontology.org/term/DOID:13250", "evidence": [ { "id": "13250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13250" } ], "weight": 0.0 }, { "disease_id": "DOID:14115", "name": "toxic shock syndrome", "description": "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.", "url": "https://disease-ontology.org/term/DOID:14115", "evidence": [ { "id": "14115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ], "weight": 0.0 }, { "disease_id": "DOID:1883", "name": "hepatitis C", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in hepatitis C virus (Hepacivirus hominis), which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.", "url": "https://disease-ontology.org/term/DOID:1883", "evidence": [ { "id": "1883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1883" } ], "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:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "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:2526", "name": "prostate adenocarcinoma", "description": "A prostate carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:2526", "evidence": [ { "id": "2526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2526" } ], "weight": 0.0 }, { "disease_id": "DOID:289", "name": "endometriosis", "description": "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.", "url": "https://disease-ontology.org/term/DOID:289", "evidence": [ { "id": "289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:289" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4029", "name": "gastritis", "description": "A stomach disease that is an inflammation of the lining of the stomach.", "url": "https://disease-ontology.org/term/DOID:4029", "evidence": [ { "id": "4029", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4029" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "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: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:854", "name": "collagen disease", "description": "A connective tissue disease that characterized by connective tissue disease that has_material_basis_in inheritable defects in collagen.", "url": "https://disease-ontology.org/term/DOID:854", "evidence": [ { "id": "854", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:854" } ], "weight": 0.0 }, { "disease_id": "DOID:8567", "name": "Hodgkin's lymphoma", "description": "A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell.", "url": "https://disease-ontology.org/term/DOID:8567", "evidence": [ { "id": "8567", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8567" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:9588", "name": "encephalitis", "description": "A brain disease that is characterized as an acute inflammation of the brain with flu-like symptoms.", "url": "https://disease-ontology.org/term/DOID:9588", "evidence": [ { "id": "9588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9588" } ], "weight": 0.0 }, { "disease_id": "DOID:9675", "name": "pulmonary emphysema", "description": "A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls.", "url": "https://disease-ontology.org/term/DOID:9675", "evidence": [ { "id": "9675", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9675" } ], "weight": 0.0 }, { "disease_id": "DOID:9965", "name": "toxoplasmosis", "description": "A coccidiosis that has_material_basis_in protozoan Toxoplasma gondii. The parasite effects most genera of warm-blooded animals, including humans, but the primary host is the felid (cat) family. Animals are infected by eating infected meat, by ingestion of feces of a cat that has itself recently been infected, or transmission_by mother to fetus. The symptoms include bilateral, nontender cervical or axillary lymphadenopathy, fever, malaise, myalgia, hepatosplenomegaly, anemia and leukopenia.", "url": "https://disease-ontology.org/term/DOID:9965", "evidence": [ { "id": "9965", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9965" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q03017", "url": "https://www.uniprot.org/uniprotkb/Q03017" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q03017", "url": "https://www.uniprot.org/uniprotkb/Q03017" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "Q03017", "url": "https://www.uniprot.org/uniprotkb/Q03017" } ], "pmid": "" }, { "name": "subsynaptic reticulum", "id": "GO:0071212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071212", "evidence": [ { "database": "UniProtKB", "id": "Q03017", "url": "https://www.uniprot.org/uniprotkb/Q03017" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of canonical NF-kappaB signal transduction", "id": "GO:0043124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043124", "evidence": [ { "database": "UniProtKB", "id": "Q03017", "url": "https://www.uniprot.org/uniprotkb/Q03017" } ], "pmid": "" }, { "name": "dorsal/ventral pattern formation", "id": "GO:0009953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009953", "evidence": [ { "database": "UniProtKB", "id": "Q03017", "url": "https://www.uniprot.org/uniprotkb/Q03017" } ], "pmid": "" }, { "name": "antimicrobial humoral response", "id": "GO:0019730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019730", "evidence": [ { "database": 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"evidence": [ { "database": "UniProtKB", "id": "Q07327", "url": "https://www.uniprot.org/uniprotkb/Q07327" } ], "pmid": "" }, { "name": "SNARE binding", "id": "GO:0000149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000149", "evidence": [ { "database": "UniProtKB", "id": "Q07327", "url": "https://www.uniprot.org/uniprotkb/Q07327" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "P46867-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P46867", "url": "https://www.uniprot.org/uniprotkb/P46867" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 784, "chemical_mass": 88207.0, "gene_names": "Klp68D;68D]];CG7293;DmKlp68D;Dmel\\CG7293;Dmel_CG7293;KIF 3B;KIF3B;KLP-5;KLP5;KLP68Ddm;KLP68D;KLP[[64D/68D]];Klp5;Klp68D;klp68d", "protein_name": "Kinesin-like protein 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"record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q27403-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q27403", "url": "https://www.uniprot.org/uniprotkb/Q27403" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 504, "chemical_mass": 56202.0, "gene_names": "gcm;CG12245;Dmel\\CG12245;Dmel_CG12245;GCM1;GCMa;GCM;Gcm;N7-4;gcm;glide/gcm;glide;l(2)N7-4;ucc", "protein_name": "Transcription factor glial cells missing", "disease": [ { "disease_id": "DOID:0061151", "name": "familial isolated hypoparathyroidism 2", "description": "A familial isolated hypoparathyroidism that has_material_basis_in homozygous mutation in the glial cells missing transcription factor-2 GCM2 gene on chromosome 6p24. Some patients have been reported with heterozygous mutations in the GCM2 gene.", "url": "https://disease-ontology.org/term/DOID:0061151", "evidence": [ { "id": "0061151", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061151" } ], "weight": 0.0 }, { "disease_id": "DOID:11199", "name": "hypoparathyroidism", "description": "A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood.", "url": "https://disease-ontology.org/term/DOID:11199", "evidence": [ { "id": "11199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11199" } ], "weight": 0.0 }, { "disease_id": "DOID:13543", "name": "hyperparathyroidism", "description": "A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body.", "url": 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"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": "Q27403", "url": "https://www.uniprot.org/uniprotkb/Q27403" } ], "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": "Q27403", "url": "https://www.uniprot.org/uniprotkb/Q27403" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "Q27403", "url": "https://www.uniprot.org/uniprotkb/Q27403" } ], "pmid": "" }, { "name": "dendrite morphogenesis", "id": "GO:0048813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048813", "evidence": [ { "database": "UniProtKB", "id": "Q27403", "url": "https://www.uniprot.org/uniprotkb/Q27403" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q27403", "url": "https://www.uniprot.org/uniprotkb/Q27403" } ], "pmid": "" }, { "name": "gliogenesis", "id": "GO:0042063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042063", "evidence": [ { "database": "UniProtKB", "id": "Q27403", "url": "https://www.uniprot.org/uniprotkb/Q27403" } ], "pmid": "" }, { "name": "retinal ganglion cell axon guidance", "id": "GO:0031290", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031290", "evidence": [ { "database": "UniProtKB", "id": "Q27403", "url": "https://www.uniprot.org/uniprotkb/Q27403" } ], "pmid": "" }, { "name": "glial cell differentiation", "id": "GO:0010001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010001", "evidence": [ { "database": "UniProtKB", "id": "Q27403", "url": "https://www.uniprot.org/uniprotkb/Q27403" } ], "pmid": "" }, { "name": "establishment of glial blood-brain barrier", "id": "GO:0060857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060857", "evidence": [ { "database": "UniProtKB", "id": "Q27403", "url": "https://www.uniprot.org/uniprotkb/Q27403" } ], "pmid": "" }, { "name": "glial cell fate determination", "id": "GO:0007403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007403", "evidence": [ { "database": "UniProtKB", "id": "Q27403", "url": "https://www.uniprot.org/uniprotkb/Q27403" } ], "pmid": "" }, { "name": "regulation of phagocytosis", "id": "GO:0050764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050764", "evidence": [ { "database": "UniProtKB", "id": "Q27403", "url": "https://www.uniprot.org/uniprotkb/Q27403" } ], "pmid": "" }, { "name": "embryonic crystal cell differentiation", "id": "GO:0035165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035165", "evidence": [ { "database": "UniProtKB", "id": "Q27403", "url": "https://www.uniprot.org/uniprotkb/Q27403" } ], "pmid": "" }, { "name": "hemocyte 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"Q95RI5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q95RI5", "url": "https://www.uniprot.org/uniprotkb/Q95RI5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 418, "chemical_mass": 47105.0, "gene_names": "fax;CG4609;Dmel\\CG4609;Dmel_CG4609;FAX;Fax;anon-EST:Liang-1.34;anon-WO0172774.62;anon-WO0172774.63;anon-WO0172774.65;anon-WO0172774.66;anon-WO0172774.67;anon-WO0172774.68;anon-WO0172774.69;clone 1.34;fac;fax", "protein_name": "Failed axon connections", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q95RI5", "url": "https://www.uniprot.org/uniprotkb/Q95RI5" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { 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"reference_species": "Drosophila melanogaster [7227]" } ], "length": 581, "chemical_mass": 64847.0, "gene_names": "fz;CG17697;CG3646;DFZ1;DFz1;DFz;Dfz1;Dfz;Dm Fz1;Dmel\\CG17697;Dmel_CG17697;FZ1;FZ;Frizzled;Frz;Fz1;Fzd;Fz;dFz;frz;fz1;fz[[1]];fz", "protein_name": "Frizzled", "disease": [ { "disease_id": "DOID:0080845", "name": "omodysplasia 2", "description": "An omodysplasia that is characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies and that has_material_basis_in heterozygous mutation in the FZD2 gene on chromosome 17q21.", "url": "https://disease-ontology.org/term/DOID:0080845", "evidence": [ { "id": "0080845", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080845" } ], "weight": 0.0 }, { "disease_id": "DOID:127", "name": "leiomyoma", "description": "A cell type benign neoplasm that is a benign tumor of smooth muscle cells.", "url": 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"name": "homophilic cell adhesion via plasma membrane adhesion molecules", "id": "GO:0007156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007156", "evidence": [ { "database": "UniProtKB", "id": "P18537", "url": "https://www.uniprot.org/uniprotkb/P18537" } ], "pmid": "" }, { "name": "positive regulation of axon extension", "id": "GO:0045773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045773", "evidence": [ { "database": "UniProtKB", "id": "P18537", "url": "https://www.uniprot.org/uniprotkb/P18537" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "P18537", "url": "https://www.uniprot.org/uniprotkb/P18537" } ], "pmid": "" }, { "name": "morphogenesis of a polarized epithelium", "id": "GO:0001738", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001738", "evidence": [ { "database": "UniProtKB", "id": "P18537", "url": 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"https://www.uniprot.org/uniprotkb/P18537" } ], "pmid": "" }, { "name": "axon extension", "id": "GO:0048675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048675", "evidence": [ { "database": "UniProtKB", "id": "P18537", "url": "https://www.uniprot.org/uniprotkb/P18537" } ], "pmid": "" }, { "name": "non-canonical Wnt signaling pathway", "id": "GO:0035567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035567", "evidence": [ { "database": "UniProtKB", "id": "P18537", "url": "https://www.uniprot.org/uniprotkb/P18537" } ], "pmid": "" }, { "name": "salivary gland morphogenesis", "id": "GO:0007435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007435", "evidence": [ { "database": "UniProtKB", "id": "P18537", "url": "https://www.uniprot.org/uniprotkb/P18537" } ], "pmid": "" }, { "name": "establishment of planar polarity", "id": "GO:0001736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001736", "evidence": [ { "database": "UniProtKB", "id": "P18537", "url": "https://www.uniprot.org/uniprotkb/P18537" } ], "pmid": "" }, { "name": "positive regulation of axon guidance", "id": "GO:1902669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902669", "evidence": [ { "database": "UniProtKB", "id": "P18537", "url": "https://www.uniprot.org/uniprotkb/P18537" } ], "pmid": "" }, { "name": "imaginal disc-derived wing hair site selection", "id": "GO:0035320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035320", "evidence": [ { "database": "UniProtKB", "id": "P18537", "url": "https://www.uniprot.org/uniprotkb/P18537" } ], "pmid": "" }, { "name": "cardioblast cell fate specification", "id": "GO:0042685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042685", "evidence": [ { "database": "UniProtKB", "id": "P18537", "url": "https://www.uniprot.org/uniprotkb/P18537" } ], "pmid": "" }, { "name": "establishment of imaginal disc-derived wing hair orientation", "id": "GO:0001737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001737", "evidence": [ { 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], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P19339", "url": "https://www.uniprot.org/uniprotkb/P19339" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "P19339", "url": "https://www.uniprot.org/uniprotkb/P19339" } ], "pmid": "" }, { "name": "negative regulation of mRNA splicing, via spliceosome", "id": "GO:0048025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048025", "evidence": [ { "database": "UniProtKB", "id": "P19339", "url": "https://www.uniprot.org/uniprotkb/P19339" } ], "pmid": "" }, { "name": "negative regulation of translation", "id": "GO:0017148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017148", "evidence": [ { "database": "UniProtKB", "id": "P19339", "url": "https://www.uniprot.org/uniprotkb/P19339" } ], "pmid": "" }, { "name": "negative regulation of translational initiation", "id": "GO:0045947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045947", "evidence": [ { "database": "UniProtKB", "id": "P19339", "url": "https://www.uniprot.org/uniprotkb/P19339" } ], "pmid": "" }, { "name": "sex differentiation", "id": "GO:0007548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007548", "evidence": [ { "database": "UniProtKB", "id": "P19339", "url": "https://www.uniprot.org/uniprotkb/P19339" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "P19339", "url": "https://www.uniprot.org/uniprotkb/P19339" } ], "pmid": "" }, { "name": "regulation of mRNA splicing, via spliceosome", "id": "GO:0048024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048024", "evidence": [ { "database": "UniProtKB", "id": "P19339", "url": "https://www.uniprot.org/uniprotkb/P19339" } ], "pmid": "" }, 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"https://www.uniprot.org/uniprotkb/P19339" } ], "pmid": "" }, { "name": "somatic sex determination", "id": "GO:0018993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018993", "evidence": [ { "database": "UniProtKB", "id": "P19339", "url": "https://www.uniprot.org/uniprotkb/P19339" } ], "pmid": "" }, { "name": "sex determination, primary response to X:A ratio", "id": "GO:0007541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007541", "evidence": [ { "database": "UniProtKB", "id": "P19339", "url": "https://www.uniprot.org/uniprotkb/P19339" } ], "pmid": "" }, { "name": "female germ-line sex determination", "id": "GO:0019099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019099", "evidence": [ { "database": "UniProtKB", "id": "P19339", "url": "https://www.uniprot.org/uniprotkb/P19339" } ], "pmid": "" }, { "name": "epithelium regeneration", "id": "GO:1990399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990399", "evidence": [ { "database": "UniProtKB", "id": "P19339", "url": 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"pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P19339", "url": "https://www.uniprot.org/uniprotkb/P19339" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P19339", "url": "https://www.uniprot.org/uniprotkb/P19339" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P19339", "url": "https://www.uniprot.org/uniprotkb/P19339" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P19339", "url": "https://www.uniprot.org/uniprotkb/P19339" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": 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A subset of patients have a larger deletion of chromosome 7p22 including the ACTB gene and additional variable genes, consistent with a contiguous gene deletion syndrome.", "url": "https://disease-ontology.org/term/DOID:0081112", "evidence": [ { "id": "0081112", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081112" } ], "weight": 0.0 }, { "disease_id": "DOID:0081113", "name": "Baraitser-Winter syndrome 2", "description": "A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTG1 gene on chromosome 17q25.", "url": "https://disease-ontology.org/term/DOID:0081113", "evidence": [ { "id": "0081113", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081113" } ], "weight": 0.0 }, { "disease_id": "DOID:0110550", "name": "autosomal dominant nonsyndromic deafness 20", "description": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the ACTG1 gene on chromosome 17q25.", "url": "https://disease-ontology.org/term/DOID:0110550", "evidence": [ { "id": "0110550", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110550" } ], "weight": 0.0 }, { "disease_id": "DOID:10486", "name": "intestinal atresia", "description": "", "url": "https://disease-ontology.org/term/DOID:10486", "evidence": [ { "id": "10486", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10486" } ], "weight": 0.0 }, { "disease_id": "DOID:10881", "name": "hand, foot and mouth disease", "description": "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Enterovirus A (Enterovirus alphacoxsackie), which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet.", "url": "https://disease-ontology.org/term/DOID:10881", "evidence": [ { "id": "10881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10881" } ], "weight": 0.0 }, { "disease_id": "DOID:13099", "name": "Moyamoya disease", "description": "A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots.", "url": "https://disease-ontology.org/term/DOID:13099", "evidence": [ { "id": "13099", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13099" } ], "weight": 0.0 }, { "disease_id": "DOID:13832", "name": "patent ductus arteriosus", "description": "", "url": "https://disease-ontology.org/term/DOID:13832", "evidence": [ { "id": "13832", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13832" } ], "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:1588", "name": "thrombocytopenia", "description": "A blood platelet disease that is characterized by low a platelet count in the blood.", "url": "https://disease-ontology.org/term/DOID:1588", "evidence": [ { "id": "1588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1588" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "molecular_function": [ { "name": "structural constituent of cytoskeleton", "id": "GO:0005200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005200", "evidence": [ { "database": "UniProtKB", "id": "P02572", "url": "https://www.uniprot.org/uniprotkb/P02572" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P02572", "url": "https://www.uniprot.org/uniprotkb/P02572" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "P02572", "url": "https://www.uniprot.org/uniprotkb/P02572" } ], "pmid": "" } ], "biological_process": [ { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "P02572", "url": "https://www.uniprot.org/uniprotkb/P02572" } ], "pmid": "" }, { "name": "mitotic cytokinesis", "id": "GO:0000281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000281", "evidence": [ { "database": "UniProtKB", "id": "P02572", "url": "https://www.uniprot.org/uniprotkb/P02572" } ], "pmid": "" }, { "name": "ovarian fusome organization", "id": "GO:0030723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030723", "evidence": [ { "database": "UniProtKB", "id": "P02572", "url": "https://www.uniprot.org/uniprotkb/P02572" } ], "pmid": "" } ], "cellular_component": [ { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "P02572", "url": "https://www.uniprot.org/uniprotkb/P02572" } ], "pmid": "" }, { "name": "brahma complex", "id": "GO:0035060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035060", "evidence": [ { "database": "UniProtKB", "id": "P02572", "url": "https://www.uniprot.org/uniprotkb/P02572" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "P04412-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1426, "chemical_mass": 159718.0, "gene_names": "Egfr;C-erb;CG10079;D-EGFR;D-Egf;DEGFR;DER flb;DER/EGFR;DER/top;DER/torpedo;DER1;DER;DEgfr;Degfr;Der;DmHD-33;Dmel\\CG10079;Dmel_CG10079;EC2-4;EFG-R;EGF-R;EGFR;EGFr;EGF;EGfr;EK2-6;EgFr;Egf-r;EgfR;Egfr;Egf;Elp-1;Elp-B1RB1;Elp-B1;Elp;El;HD-33;TOP;Top;Torpedo/DER;Torpedo/Egfr;Torpedo;c-erbB;d-egf-r;dEGFR1;dEGFR;dEGFr;dEgfr;degfr;der;egfr;flb;l(2)05351;l(2)09261;l(2)57DEFa;l(2)57EFa;l(2)57Ea;mor1;top/DER;top/flb;top;torpedo/Egfr;torpedo/egfr;torpedo", "protein_name": "Epidermal growth factor receptor", "disease": [ { "disease_id": "DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:0050700", "evidence": [ { "id": "0050700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050700" } ], "weight": 0.0 }, { "disease_id": "DOID:0050742", "name": "nicotine dependence", "description": "A substance dependence that is characterized by a physical dependence on nicotine.", "url": "https://disease-ontology.org/term/DOID:0050742", "evidence": [ { "id": "0050742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050742" } ], "weight": 0.0 }, { "disease_id": "DOID:0050861", "name": "colorectal adenocarcinoma", "description": "A colorectal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:0050861", "evidence": [ { "id": "0050861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050861" } ], "weight": 0.0 }, { "disease_id": "DOID:0050865", "name": "tongue squamous cell carcinoma", "description": "A head and neck squamous cell carcinoma that is located_in the tongue.", "url": "https://disease-ontology.org/term/DOID:0050865", "evidence": [ { "id": "0050865", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050865" } ], "weight": 0.0 }, { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:0060074", "name": "ductal carcinoma in situ", "description": "A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:0060074", "evidence": [ { "id": "0060074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060074" } ], "weight": 0.0 }, { "disease_id": "DOID:0060210", "name": "amyotrophic lateral sclerosis type 19", "description": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ERBB4 gene on chromosome 2.", "url": "https://disease-ontology.org/term/DOID:0060210", "evidence": [ { "id": "0060210", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060210" } ], "weight": 0.0 }, { "disease_id": "DOID:0060560", "name": "lethal congenital contracture syndrome 2", "description": "A lethal congenital contracture syndrome that can be that has_material_basis_in homozygous mutation in the ERBB3 gene on chromosome 12q13.", "url": "https://disease-ontology.org/term/DOID:0060560", "evidence": [ { "id": "0060560", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060560" } ], "weight": 0.0 }, { "disease_id": "DOID:0061191", "name": "neonatal nephrocutaneous inflammatory syndrome", "description": "An autoinflammatory disease characterized by intrauterine growth retardation and premature birth, fragile infection-prone skin, and nephromegaly with tubular dysfunction that has_material_basis_in mutation in homozygous or compound heterozygous mutation in the EGFR gene on chromosome 7p11.", "url": "https://disease-ontology.org/term/DOID:0061191", "evidence": [ { "id": "0061191", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061191" } ], "weight": 0.0 }, { "disease_id": "DOID:0080599", "name": "Coronavirus infectious disease", "description": "A viral infectious disease that has_material_basis_in Coronavirus.", "url": "https://disease-ontology.org/term/DOID:0080599", "evidence": [ { "id": "0080599", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080599" } ], "weight": 0.0 }, { "disease_id": "DOID:0080679", "name": "neuronal intestinal dysplasia type A", "description": "An intestinal pseudo-obstruction that is characterized by congenital hypoplasia or aplasia of the sympathetic innervation of the intestine.", "url": "https://disease-ontology.org/term/DOID:0080679", "evidence": [ { "id": "0080679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080679" } ], "weight": 0.0 }, { "disease_id": "DOID:0080855", "name": "Parkinsonism", "description": "A movement disorder that is characterized by disturbances of balance, gait and posture.", "url": "https://disease-ontology.org/term/DOID:0080855", "evidence": [ { "id": "0080855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080855" } ], "weight": 0.0 }, { "disease_id": "DOID:10155", "name": "intestinal cancer", "description": "A gastrointestinal system cancer that is located_in the intestine.", "url": "https://disease-ontology.org/term/DOID:10155", "evidence": [ { "id": "10155", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10155" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10376", "name": "amblyopia", "description": "An eye disease that is characterized by poor vision in one eye resulting from the brain failing to process inputs from one eye and over time favors the other eye. The weaker or lazy eye often wanders inward or outward.", "url": "https://disease-ontology.org/term/DOID:10376", "evidence": [ { "id": "10376", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10376" } ], "weight": 0.0 }, { "disease_id": "DOID:10487", "name": "Hirschsprung's disease", "description": "A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.", "url": "https://disease-ontology.org/term/DOID:10487", "evidence": [ { "id": "10487", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10487" } ], "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" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID: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:11166", "name": "Human papillomavirus infectious disease", "description": "A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. 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:13133", "name": "HELLP syndrome", "description": "A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count.", "url": "https://disease-ontology.org/term/DOID:13133", "evidence": [ { "id": "13133", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13133" } ], "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:13949", "name": "interstitial cystitis", "description": "", "url": "https://disease-ontology.org/term/DOID:13949", "evidence": [ { "id": "13949", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13949" } ], "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" } ], "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: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: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: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:2154", "name": "nephroblastoma", "description": "A kidney cancer that affects the kidneys and typically occuring in children.", "url": "https://disease-ontology.org/term/DOID:2154", "evidence": [ { "id": "2154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2154" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3312", "name": "bipolar disorder", "description": "A mood disorder that involves alternating periods of mania and depression.", "url": "https://disease-ontology.org/term/DOID:3312", "evidence": [ { "id": "3312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3312" } ], "weight": 0.0 }, { "disease_id": "DOID:3443", "name": "mammary Paget's disease", "description": "A breast adenocarcinoma that has_material_basis_in epidermal Paget cells, which are malignant glandular epithelial cells with abundant and clear cytoplasm, usually containing mucin, and pleomorphic and hyperchromatic nucleus.", "url": "https://disease-ontology.org/term/DOID:3443", "evidence": [ { "id": "3443", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3443" } ], "weight": 0.0 }, { "disease_id": "DOID:3457", "name": "invasive lobular carcinoma", "description": "A breast lobular carcinoma that is characterized by infiltration into the tissue of the breast outside of the lobule where it originated.", "url": "https://disease-ontology.org/term/DOID:3457", "evidence": [ { "id": "3457", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3457" } ], "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:4306", "name": "radiculopathy", "description": "A peripheral nervous system disease that is characterized by the pinching of a nerve root in the spine and has symptoms of pain, weakness, numbness and tingling.", "url": "https://disease-ontology.org/term/DOID:4306", "evidence": [ { "id": "4306", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4306" } ], "weight": 0.0 }, { "disease_id": "DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix.", "url": "https://disease-ontology.org/term/DOID:4362", "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5517", "name": "stomach carcinoma", "description": "A stomach cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:5517", "evidence": [ { "id": "5517", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5517" } ], "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" } ], "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: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: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: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: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: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 } ], "biological_process": [ { "name": "embryo development ending in birth or egg hatching", "id": "GO:0009792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009792", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" } ], "pmid": "" }, { "name": "compound eye development", "id": "GO:0048749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048749", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" } ], "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": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" } ], "pmid": "" }, { "name": "establishment of epithelial cell apical/basal polarity", "id": "GO:0045198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045198", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" } ], "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": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" } ], "pmid": "" }, { "name": "behavioral response to ethanol", "id": "GO:0048149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048149", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" } ], "pmid": "" }, { "name": "positive regulation of wound healing", "id": "GO:0090303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090303", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" } ], "pmid": "" }, { "name": "epidermal growth factor receptor signaling pathway", "id": "GO:0007173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007173", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" } ], "pmid": "" }, { "name": "digestive tract morphogenesis", "id": "GO:0048546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048546", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" } ], "pmid": "" }, { "name": "positive regulation of cell division", "id": "GO:0051781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051781", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" } ], "pmid": "" }, { "name": "peripheral nervous system development", "id": "GO:0007422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007422", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" } ], "pmid": "" }, { "name": "positive regulation of phosphorylation", "id": "GO:0042327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042327", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" } ], "pmid": "" }, { "name": "olfactory learning", "id": "GO:0008355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008355", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" } ], "pmid": "" }, { "name": "negative regulation of G1/S transition of mitotic cell cycle", "id": "GO:2000134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000134", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" } ], "pmid": "" }, { "name": "maintenance of epithelial cell apical/basal polarity", "id": "GO:0045199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045199", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell proliferation", "id": "GO:0050679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050679", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" } ], "pmid": "" }, { "name": "neurogenesis", "id": "GO:0022008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022008", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" } ], "pmid": "" }, { "name": "negative regulation of apoptotic signaling pathway", "id": "GO:2001234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001234", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" } ], "pmid": "" }, { "name": "salivary gland development", "id": "GO:0007431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007431", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" } ], "pmid": "" }, { "name": "eye development", "id": "GO:0001654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001654", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" } ], "pmid": "" }, { "name": "morphogenesis of an epithelium", "id": "GO:0002009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002009", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" } ], "pmid": "" }, { "name": "embryonic pattern specification", "id": "GO:0009880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009880", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" } ], "pmid": "" }, { "name": "photoreceptor cell differentiation", "id": "GO:0046530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046530", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" } ], "pmid": "" }, { "name": "gonad development", "id": "GO:0008406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008406", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" } ], "pmid": "" }, { "name": "establishment or maintenance of apical/basal cell polarity", "id": "GO:0035088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035088", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" } ], "pmid": "" }, { "name": "cell projection assembly", "id": "GO:0030031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030031", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" } ], "pmid": "" }, { "name": "germ-line stem cell 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"end_pos": "569", "site_lbl": "Asn569", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 569, "start_aa": "Asn", "end_pos": 569, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn569", "evidence": [ { "id": "P04412", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P04412#ptm_processing" }, { "id": "3LTF", "database": "PDB", "url": "https://www.rcsb.org/sequence/3LTF" } ] } ] }, { "uniprot_canonical_ac": "P04412-1", "start_pos": "599", "end_pos": "599", "site_lbl": "Asn599", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 599, "start_aa": "Asn", "end_pos": 599, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn599", "evidence": [ { "id": "P04412", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P04412#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P04412-1", "start_pos": "617", "end_pos": "617", "site_lbl": "Asn617", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 617, "start_aa": "Asn", "end_pos": 617, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn617", "evidence": [ { "id": "P04412", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P04412#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P04412-1", "start_pos": "816", "end_pos": "816", "site_lbl": "Asn816", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 816, "start_aa": "Asn", "end_pos": 816, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn816", "evidence": [ { "id": "P04412", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P04412#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P04412-1", "start_pos": "823", "end_pos": "823", "site_lbl": "Asn823", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 823, "start_aa": "Asn", "end_pos": 823, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn823", "evidence": [ { "id": "P04412", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P04412#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P04412-1", "start_pos": "828", "end_pos": "828", "site_lbl": "Asn828", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 828, "start_aa": "Asn", "end_pos": 828, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn828", "evidence": [ { "id": "P04412", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P04412#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P04412-1", "start_pos": "1310", "end_pos": "1310", "site_lbl": "Tyr1310", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Weak interaction with EGFRAP; when associated with F-1095; F-1204; F-1218; F-1246; F-1271; F-1342. Very weak interaction with EGFRAP; when associated with F-1095; F-1204; F-1218; F-1246; F-1271; F-1342 and 1405-F-F-1406.", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" }, { "database": "PubMed", "id": "34411095", "url": "https://glygen.org/publication/PubMed/34411095" } ] } ] }, { "uniprot_canonical_ac": "P04412-1", "start_pos": "902", "end_pos": "902", "site_lbl": "Thr902", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" } ] } ] }, { "uniprot_canonical_ac": "P04412-1", "start_pos": "101", "end_pos": "101", "site_lbl": "Ile101", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "A", "comment": "Increased binding to spitz; when associated with A-101; A-358 and S-369.", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" }, { "database": "PubMed", "id": "19718021", "url": "https://glygen.org/publication/PubMed/19718021" } ] } ] }, { "uniprot_canonical_ac": "P04412-1", "start_pos": "1058", "end_pos": "1058", "site_lbl": "Arg1058", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "In EGFR-ELP-B1RB1.", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" } ] } ] }, { "uniprot_canonical_ac": "P04412-1", "start_pos": "1095", "end_pos": "1095", "site_lbl": "Tyr1095", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Weak interaction with EGFRAP; when associated with F-1204; F-1218; F-1246; F-1271; F-1310; F-1342. Very weak interaction with EGFRAP; when associated with F-1204; F-1218; F-1246; F-1271; F-1310; F-1342 and 1405-F-F-1406.", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" }, { "database": "PubMed", "id": "34411095", "url": "https://glygen.org/publication/PubMed/34411095" } ] } ] }, { "uniprot_canonical_ac": "P04412-1", "start_pos": "1135", "end_pos": "1135", "site_lbl": "Thr1135", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "In EGFR-2W74.", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" } ] } ] }, { "uniprot_canonical_ac": "P04412-1", "start_pos": "1156", "end_pos": "1156", "site_lbl": "Gly1156", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "In EGFR-2C82.", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" } ] } ] }, { "uniprot_canonical_ac": "P04412-1", "start_pos": "1162", "end_pos": "1162", "site_lbl": "Pro1162", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "In EGFR-1F26.", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" } ] } ] }, { "uniprot_canonical_ac": "P04412-1", "start_pos": "1166", "end_pos": "1166", "site_lbl": "Ser1166", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "In EGFR-2L65.", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" } ] } ] }, { "uniprot_canonical_ac": "P04412-1", "start_pos": "1204", "end_pos": "1204", "site_lbl": "Tyr1204", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Weak interaction with EGFRAP; when associated with F-1095; F-1218; F-1246; F-1271; F-1310; F-1342. Very weak interaction with EGFRAP; when associated with F-1095; F-1218; F-1246; F-1271; F-1310; F-1342 and 1405-F-F-1406.", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" }, { "database": "PubMed", "id": "34411095", "url": "https://glygen.org/publication/PubMed/34411095" } ] } ] }, { "uniprot_canonical_ac": "P04412-1", "start_pos": "1218", "end_pos": "1218", "site_lbl": "Tyr1218", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Weak interaction with EGFRAP; when associated with F-1095; F-1204; F-1246; F-1271; F-1310; F-1342. Very weak interaction with EGFRAP; when associated with F-1095; F-1204; F-1246; F-1271; F-1310; F-1342 and 1405-F-F-1406.", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" }, { "database": "PubMed", "id": "34411095", "url": "https://glygen.org/publication/PubMed/34411095" } ] } ] }, { "uniprot_canonical_ac": "P04412-1", "start_pos": "1246", "end_pos": "1246", "site_lbl": "Tyr1246", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Weak interaction with EGFRAP; when associated with F-1095; F-1204; F-1218; F-1271; F-1310; F-1342. Very weak interaction with EGFRAP; when associated with F-1095; F-1204; F-1218; F-1271; F-1310; F-1342 and 1405-F-F-1406.", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" }, { "database": "PubMed", "id": "34411095", "url": "https://glygen.org/publication/PubMed/34411095" } ] } ] }, { "uniprot_canonical_ac": "P04412-1", "start_pos": "1271", "end_pos": "1271", "site_lbl": "Tyr1271", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Cbl-mediated ubiquitination, in response to high levels of Egfr ligand spi, is impaired resulting in reduced interaction with Graf and thus decreased GEEC-mediated endocytosis and degradation. Weak interaction with EGFRAP; when associated with F-1095; F-1204; F-1218; F-1246; F-1310; F-1342. Very weak interaction with EGFRAP; when associated with F-1095; F-1204; F-1218; F-1246; F-1310; F-1342 and 1405-F-F-1406.", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" }, { "database": "PubMed", "id": "28993397", "url": "https://glygen.org/publication/PubMed/28993397" }, { "database": "PubMed", "id": "34411095", "url": "https://glygen.org/publication/PubMed/34411095" } ] } ] }, { "uniprot_canonical_ac": "P04412-1", "start_pos": "131", "end_pos": "131", "site_lbl": "Tyr131", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Increased binding to spitz; when associated with A-131; A-358 and S-369.", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" }, { "database": "PubMed", "id": "19718021", "url": "https://glygen.org/publication/PubMed/19718021" } ] } ] }, { "uniprot_canonical_ac": "P04412-1", "start_pos": "1357", "end_pos": "1357", "site_lbl": "Tyr1357", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "No effect on interaction with EGFRAP. Decreased interaction with EGFRAP; when associated with 1405-F-F-1406. Very weak interaction with EGFRAP; when associated with F-1095; F-1204; F-1218; F-1246; F-1271; F-1310.", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" }, { "database": "PubMed", "id": "34411095", "url": "https://glygen.org/publication/PubMed/34411095" } ] } ] }, { "uniprot_canonical_ac": "P04412-1", "start_pos": "341", "end_pos": "341", "site_lbl": "Tyr341", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "E", "comment": "In dim-arm; Does not form dimers even in the presence of spitz; when associated with A-342; D-344; E-346; A-347 and D-348.", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" }, { "database": "PubMed", "id": "19718021", "url": "https://glygen.org/publication/PubMed/19718021" } ] } ] }, { "uniprot_canonical_ac": "P04412-1", "start_pos": "342", "end_pos": "342", "site_lbl": "Asn342", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "In dim-arm; Does not form dimers even in the presence of spitz; when associated with E-341; D-344; E-346; A-347 and D-348.", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" }, { "database": "PubMed", "id": "19718021", "url": "https://glygen.org/publication/PubMed/19718021" } ] } ] }, { "uniprot_canonical_ac": "P04412-1", "start_pos": "344", "end_pos": "344", "site_lbl": "Thr344", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "D", "comment": ">D: In dim-arm; Does not form dimers even in the presence of spitz; when associated with E-341; A-342; E-346; A-347 and D-348.", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" }, { "database": "PubMed", "id": "19718021", "url": "https://glygen.org/publication/PubMed/19718021" } ] } ] }, { "uniprot_canonical_ac": "P04412-1", "start_pos": "346", "end_pos": "346", "site_lbl": "Tyr346", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "E", "comment": "In dim-arm; Does not form dimers even in the presence of spitz; when associated with E-341; A-342; D-344; A-347 and D-348.", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" }, { "database": "PubMed", "id": "19718021", "url": "https://glygen.org/publication/PubMed/19718021" } ] } ] }, { "uniprot_canonical_ac": "P04412-1", "start_pos": "347", "end_pos": "347", "site_lbl": "Val347", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "In dim-arm; Does not form dimers even in the presence of Spitz; when associated with E-341; A-342; D-344; E-346 and D-348.", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" }, { "database": "PubMed", "id": "19718021", "url": "https://glygen.org/publication/PubMed/19718021" } ] } ] }, { "uniprot_canonical_ac": "P04412-1", "start_pos": "348", "end_pos": "348", "site_lbl": "Leu348", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "D", "comment": "In dim-arm; Does not form dimers even in the presence of spitz; when associated with E-341; A-342; D-344; E-346 and A-347.", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" }, { "database": "PubMed", "id": "19718021", "url": "https://glygen.org/publication/PubMed/19718021" } ] } ] }, { "uniprot_canonical_ac": "P04412-1", "start_pos": "358", "end_pos": "358", "site_lbl": "Tyr358", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Reduced dissociation and increased binding to spitz; when associated with S-369. Increased binding to spitz; when associated with A-101; A-131 and S-369.", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" }, { "database": "PubMed", "id": "19718021", "url": "https://glygen.org/publication/PubMed/19718021" } ] } ] }, { "uniprot_canonical_ac": "P04412-1", "start_pos": "369", "end_pos": "369", "site_lbl": "His369", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "S", "comment": "Reduced dissociation and increased binding to spitz; when associated with A-358. Increased binding to spitz; when associated with A-101; A-131 and A-358.", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" }, { "database": "PubMed", "id": "19718021", "url": "https://glygen.org/publication/PubMed/19718021" } ] } ] }, { "uniprot_canonical_ac": "P04412-1", "start_pos": "646", "end_pos": "646", "site_lbl": "Asp646", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "In tether; No effect on binding to spitz; when associated with A-649 and A-658.", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" }, { "database": "PubMed", "id": "19718021", "url": "https://glygen.org/publication/PubMed/19718021" } ] } ] }, { "uniprot_canonical_ac": "P04412-1", "start_pos": "649", "end_pos": "649", "site_lbl": "His649", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "In tether; No effect on binding to spitz; when associated with A-646 and A-658.", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" }, { "database": "PubMed", "id": "19718021", "url": "https://glygen.org/publication/PubMed/19718021" } ] } ] }, { "uniprot_canonical_ac": "P04412-1", "start_pos": "658", "end_pos": "658", "site_lbl": "Lys658", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "In tether; No effect on binding to spitz; when associated with A-646 and A-649.", "evidence": [ { "database": "UniProtKB", "id": "P04412", "url": "https://www.uniprot.org/uniprotkb/P04412" }, { "database": "PubMed", "id": "19718021", "url": "https://glygen.org/publication/PubMed/19718021" } ] } ] }, { "uniprot_canonical_ac": "P04412-1", "start_pos": "793", "end_pos": "793", "site_lbl": "Cys793", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "R", "comment": "In EGFR-ELP-1.", "evidence": [ { "database": "UniProtKB", 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resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:0060071", "name": "pre-malignant neoplasm", "description": "A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer.", "url": "https://disease-ontology.org/term/DOID:0060071", "evidence": [ { "id": "0060071", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060071" } ], "weight": 0.0 }, { "disease_id": "DOID:0070220", "name": "familial hyperinsulinemic hypoglycemia 5", "description": "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio that has_material_basis_in mutation in the INSR gene on chromosome 19p13.", "url": "https://disease-ontology.org/term/DOID:0070220", "evidence": [ { "id": "0070220", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070220" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. 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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:10605", "name": "short bowel syndrome", "description": "An intestinal disease that is characterized by a reduced ability to absorb nutrients due to the physical loss or the loss of function of a portion of the small and/or large intestine.", "url": "https://disease-ontology.org/term/DOID:10605", "evidence": [ { "id": "10605", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10605" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID: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:10873", "name": "Kuhnt-Junius degeneration", "description": "", "url": "https://disease-ontology.org/term/DOID:10873", "evidence": [ { "id": "10873", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10873" } ], "weight": 0.0 }, { "disease_id": "DOID:11044", "name": "gastroschisis", "description": "", "url": "https://disease-ontology.org/term/DOID:11044", "evidence": [ { "id": "11044", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11044" } ], "weight": 0.0 }, { "disease_id": "DOID:11132", "name": "prostatic hypertrophy", "description": "", "url": "https://disease-ontology.org/term/DOID:11132", "evidence": [ { "id": "11132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11132" } ], "weight": 0.0 }, { "disease_id": "DOID:11383", "name": "cryptorchidism", "description": "", "url": "https://disease-ontology.org/term/DOID:11383", "evidence": [ { "id": "11383", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11383" } ], "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:11695", "name": "portal vein thrombosis", "description": "A hepatic vascular disease that is characterized by a blood clot that forms within the hepatic portal vein.", "url": "https://disease-ontology.org/term/DOID:11695", "evidence": [ { "id": "11695", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11695" } ], "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", 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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1307" } ], "weight": 0.0 }, { "disease_id": "DOID:13413", "name": "hepatic encephalopathy", "description": "A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood.", "url": "https://disease-ontology.org/term/DOID:13413", "evidence": [ { "id": "13413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13413" } ], "weight": 0.0 }, { "disease_id": "DOID:14183", "name": "alcoholic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:14183", "evidence": [ { "id": "14183", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14183" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2154", "name": "nephroblastoma", "description": "A kidney cancer that affects the kidneys and typically occuring in children.", "url": "https://disease-ontology.org/term/DOID:2154", "evidence": [ { "id": "2154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2154" } ], "weight": 0.0 }, { "disease_id": "DOID:2526", "name": "prostate adenocarcinoma", "description": "A prostate carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:2526", "evidence": [ { "id": "2526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2526" } ], "weight": 0.0 }, { "disease_id": "DOID:2986", "name": "IgA glomerulonephritis", "description": "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.", "url": "https://disease-ontology.org/term/DOID:2986", "evidence": [ { "id": "2986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2986" } ], "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:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ], "weight": 0.0 }, { "disease_id": "DOID:3594", "name": "choriocarcinoma", "description": "A placenta cancer that has_material_basis_in trophoblastic cells.", "url": "https://disease-ontology.org/term/DOID:3594", "evidence": [ { "id": "3594", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3594" } ], "weight": 0.0 }, { "disease_id": "DOID:3602", "name": "toxic encephalopathy", "description": "A nervous system disease that results from exposure to neurotoxicants and is characterized by an altered mental status, memory loss, and visual problems.", "url": "https://disease-ontology.org/term/DOID:3602", "evidence": [ { "id": "3602", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3602" } ], "weight": 0.0 }, { "disease_id": "DOID:4194", "name": "glucose metabolism disease", "description": "A carbohydrate metabolic disorder that is characterized by blood glucose levels which cannot be maintained within the normal range.", "url": "https://disease-ontology.org/term/DOID:4194", "evidence": [ { "id": "4194", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4194" } ], "weight": 0.0 }, { "disease_id": "DOID:4248", "name": "coronary stenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:4248", "evidence": [ { "id": "4248", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4248" } ], "weight": 0.0 }, { "disease_id": "DOID:4440", "name": "seminoma", "description": "A germinoma that has_material_basis_in cells that make sperm and eggs.", "url": "https://disease-ontology.org/term/DOID:4440", "evidence": [ { "id": "4440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4440" } ], "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: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: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:5577", "name": "gastrinoma", "description": "A neuroendocrine tumor that results_in an overproduction of gastric acid.", "url": "https://disease-ontology.org/term/DOID:5577", "evidence": [ { "id": "5577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5577" } ], "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: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:769", "name": "neuroblastoma", "description": "An autonomic nervous system neoplasm that derives_from immature nerve cells.", "url": "https://disease-ontology.org/term/DOID:769", "evidence": [ { "id": "769", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:769" } ], "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:7998", "name": "hyperthyroidism", "description": "A thyroid gland disease that involves an over production of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:7998", "evidence": [ { "id": "7998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7998" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter.", "url": "https://disease-ontology.org/term/DOID:9620", "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ], "weight": 0.0 }, { "disease_id": "DOID:9743", "name": "diabetic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:9743", "evidence": [ { "id": "9743", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9743" } ], "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 } ], "biological_process": [ { "name": "positive regulation of TORC1 signaling", "id": "GO:1904263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904263", "evidence": [ { "database": "UniProtKB", "id": "P09208", "url": "https://www.uniprot.org/uniprotkb/P09208" } ], "pmid": "" }, { "name": "negative regulation of circadian sleep/wake cycle, sleep", "id": "GO:0042321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042321", "evidence": [ { "database": "UniProtKB", "id": "P09208", "url": "https://www.uniprot.org/uniprotkb/P09208" } ], "pmid": "" }, { "name": "embryo development ending in birth or egg hatching", "id": "GO:0009792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009792", "evidence": [ { "database": "UniProtKB", "id": "P09208", "url": "https://www.uniprot.org/uniprotkb/P09208" } ], "pmid": "" }, { "name": "female mating behavior", "id": "GO:0060180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060180", "evidence": [ { "database": "UniProtKB", "id": "P09208", "url": "https://www.uniprot.org/uniprotkb/P09208" } ], "pmid": "" }, { "name": "carbohydrate homeostasis", "id": "GO:0033500", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033500", "evidence": [ { "database": "UniProtKB", "id": "P09208", "url": "https://www.uniprot.org/uniprotkb/P09208" } ], "pmid": "" }, { "name": "male germ-line stem cell asymmetric division", "id": "GO:0048133", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048133", "evidence": [ { "database": "UniProtKB", "id": "P09208", "url": "https://www.uniprot.org/uniprotkb/P09208" } ], "pmid": "" }, { "name": "negative regulation of feeding behavior", "id": "GO:2000252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000252", "evidence": [ { "database": "UniProtKB", "id": "P09208", "url": "https://www.uniprot.org/uniprotkb/P09208" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "P09208", "url": "https://www.uniprot.org/uniprotkb/P09208" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "P09208", "url": "https://www.uniprot.org/uniprotkb/P09208" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "P09208", "url": "https://www.uniprot.org/uniprotkb/P09208" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "P09208", "url": "https://www.uniprot.org/uniprotkb/P09208" } ], "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": "P09208", "url": "https://www.uniprot.org/uniprotkb/P09208" } ], "pmid": "" }, { "name": "positive regulation of cell growth", "id": "GO:0030307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030307", "evidence": [ { "database": "UniProtKB", "id": "P09208", "url": "https://www.uniprot.org/uniprotkb/P09208" } ], "pmid": "" }, { "name": "regulation of multicellular organism growth", "id": "GO:0040014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040014", "evidence": [ { "database": "UniProtKB", "id": "P09208", "url": "https://www.uniprot.org/uniprotkb/P09208" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "P09208", "url": "https://www.uniprot.org/uniprotkb/P09208" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P09208", "url": "https://www.uniprot.org/uniprotkb/P09208" } ], "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": "P09208", "url": "https://www.uniprot.org/uniprotkb/P09208" } ], "pmid": "" }, { "name": "lipid homeostasis", "id": "GO:0055088", "url": 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A subset of patients have a larger deletion of chromosome 7p22 including the ACTB gene and additional variable genes, consistent with a contiguous gene deletion syndrome.", "url": "https://disease-ontology.org/term/DOID:0081112", "evidence": [ { "id": "0081112", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081112" } ], "weight": 0.0 }, { "disease_id": "DOID:0081113", "name": "Baraitser-Winter syndrome 2", "description": "A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTG1 gene on chromosome 17q25.", "url": "https://disease-ontology.org/term/DOID:0081113", "evidence": [ { "id": "0081113", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081113" } ], "weight": 0.0 }, { "disease_id": "DOID:0110550", "name": "autosomal dominant nonsyndromic deafness 20", "description": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the ACTG1 gene on chromosome 17q25.", "url": "https://disease-ontology.org/term/DOID:0110550", "evidence": [ { "id": "0110550", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110550" } ], "weight": 0.0 }, { "disease_id": "DOID:10486", "name": "intestinal atresia", "description": "", "url": "https://disease-ontology.org/term/DOID:10486", "evidence": [ { "id": "10486", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10486" } ], "weight": 0.0 }, { "disease_id": "DOID:10881", "name": "hand, foot and mouth disease", "description": "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Enterovirus A (Enterovirus alphacoxsackie), which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet.", "url": "https://disease-ontology.org/term/DOID:10881", "evidence": [ { "id": "10881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10881" } ], "weight": 0.0 }, { "disease_id": "DOID:13099", "name": "Moyamoya disease", "description": "A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. 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"https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "P10987", "url": "https://www.uniprot.org/uniprotkb/P10987" } ], "pmid": "" }, { "name": "mitotic cytokinesis", "id": "GO:0000281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000281", "evidence": [ { "database": "UniProtKB", "id": "P10987", "url": "https://www.uniprot.org/uniprotkb/P10987" } ], "pmid": "" }, { "name": "tube formation", "id": "GO:0035148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035148", "evidence": [ { "database": "UniProtKB", "id": "P10987", "url": "https://www.uniprot.org/uniprotkb/P10987" } ], "pmid": "" }, { "name": "sperm individualization", "id": "GO:0007291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007291", "evidence": [ { "database": "UniProtKB", "id": "P10987", "url": "https://www.uniprot.org/uniprotkb/P10987" } ], "pmid": "" }, { "name": "ovarian fusome organization", "id": "GO:0030723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030723", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "P10987", "url": "https://www.uniprot.org/uniprotkb/P10987" } ], "pmid": "" }, { "name": "Ino80 complex", "id": "GO:0031011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031011", "evidence": [ { "database": "UniProtKB", "id": "P10987", "url": "https://www.uniprot.org/uniprotkb/P10987" } ], "pmid": "" }, { "name": "brahma complex", "id": "GO:0035060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035060", "evidence": [ { "database": "UniProtKB", "id": "P10987", "url": "https://www.uniprot.org/uniprotkb/P10987" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "P10987", "url": "https://www.uniprot.org/uniprotkb/P10987" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P10987-1", "start_pos": "45", "end_pos": "45", "site_lbl": "Met45", "weight": 0.0, "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "L", "comment": "Abolishes formation of methionine-sulfoxide and subsequent depolymerization.", "evidence": [ { "database": "UniProtKB", "id": "P10987", "url": "https://www.uniprot.org/uniprotkb/P10987" }, { "database": "PubMed", "id": "22116028", "url": "https://glygen.org/publication/PubMed/22116028" } ] } ] }, { "uniprot_canonical_ac": "P10987-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Met48", "weight": 0.0, "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "L", "comment": "Depolymerizes in the presence of Mical.", "evidence": [ { "database": "UniProtKB", "id": "P10987", "url": "https://www.uniprot.org/uniprotkb/P10987" }, { "database": "PubMed", "id": "22116028", "url": "https://glygen.org/publication/PubMed/22116028" } ] } ] } ], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "P11346-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P11346", "url": "https://www.uniprot.org/uniprotkb/P11346" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 739, "chemical_mass": 83729.0, "gene_names": "Raf;11-29;C110;CG2845;D-RAF;D-Raf;D-raf1;D-raf;DRaf1;DRaf;Dmel\\CG2845;Draf-1;Draf1;Draf;EG:BACH48C10.3;Phl;RAF;Raf/phl;Raf1;Raf;dRaf;draf;l(1)2Fe;l(1)G0475;l(1)phl;l(1)ph;l(1)pole hole;l(1)polehole/draf;l(1)polehole;l(1)raf;lincRNA.937;ph1;phl;ph;raf-1;raf1;rafl;raf", "protein_name": "Raf homolog serine/threonine-protein kinase Raf", "disease": [ { "disease_id": "DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:0050700", "evidence": [ { "id": "0050700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050700" } ], "weight": 0.0 }, { "disease_id": "DOID:0050860", "name": "colorectal adenoma", "description": "An intestinal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin and is located_in colon and located_in rectum.", "url": "https://disease-ontology.org/term/DOID:0050860", "evidence": [ { "id": "0050860", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050860" } ], "weight": 0.0 }, { "disease_id": "DOID:0050861", "name": "colorectal adenocarcinoma", "description": "A colorectal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:0050861", "evidence": [ { "id": "0050861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050861" } ], "weight": 0.0 }, { "disease_id": "DOID:0060233", "name": "cardiofaciocutaneous syndrome", "description": "A RASopathy characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, 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"url": "https://www.alliancegenome.org/disease/DOID:0060585" } ], "weight": 0.0 }, { "disease_id": "DOID:0080549", "name": "Noonan syndrome with multiple lentigines 2", "description": "A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the RAF1 gene on chromosome 3p25.", "url": "https://disease-ontology.org/term/DOID:0080549", "evidence": [ { "id": "0080549", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080549" } ], "weight": 0.0 }, { "disease_id": "DOID:0080550", "name": "Noonan syndrome with multiple lentigines 3", "description": "A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the BRAF gene on chromosome 7q34.", "url": "https://disease-ontology.org/term/DOID:0080550", "evidence": [ { "id": "0080550", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080550" } ], "weight": 0.0 }, { "disease_id": "DOID:0110432", "name": "dilated cardiomyopathy 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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:3069", "name": "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:3304", "name": "germinoma", "description": "A germ cell cancer that lacks histologic differentiation. 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"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:4074", "name": "pancreatic adenocarcinoma", "description": "A pancreatic carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4074", "evidence": [ { "id": "4074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4074" } ], "weight": 0.0 }, { "disease_id": "DOID:4852", "name": "pleomorphic xanthoastrocytoma", "description": "A low grade glioma that is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies.", "url": "https://disease-ontology.org/term/DOID:4852", "evidence": [ { "id": "4852", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4852" } ], "weight": 0.0 }, { "disease_id": "DOID:4905", "name": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002181", "evidence": [ { "database": "UniProtKB", "id": "P15357", "url": "https://www.uniprot.org/uniprotkb/P15357" } ], "pmid": "" }, { "name": "ribosomal small subunit biogenesis", "id": "GO:0042274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042274", "evidence": [ { "database": "UniProtKB", "id": "P15357", "url": "https://www.uniprot.org/uniprotkb/P15357" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "P16163-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P16163", "url": "https://www.uniprot.org/uniprotkb/P16163" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 352, "chemical_mass": 40062.0, "gene_names": "Uro;CG7171;Dm UO;Dmel\\CG7171;OU;UOX;UO;URO;Uo;Uro;anon-WO0140519.210;uro", "protein_name": 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"length": 755, "chemical_mass": 80579.0, "gene_names": "kay;AP-1;AP1;Ap1;CG15507;CG15509;CG33956;D-Fos;D-fos/kay;D-fos;DFOS;DFos;DFra;DM30;DM3;Dfos;Dmel\\CG33956;FOS;Fos;Fra;KAY;Kay;c-Fos;c-fos;d-Fos;d-fos;dAP-1;dFRA;dFos;dFra;dfos;dlhD;fbz;fos;fra;kay", "protein_name": "Transcription factor kayak, isoforms A/B/F", "disease": [ { "disease_id": "DOID:0050156", "name": "idiopathic pulmonary fibrosis", "description": "A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe.", "url": "https://disease-ontology.org/term/DOID:0050156", "evidence": [ { "id": "0050156", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050156" } ], "weight": 0.0 }, { "disease_id": "DOID:0050328", "name": "congenital hypothyroidism", "description": "A hypothyroidism that is present at birth.", "url": "https://disease-ontology.org/term/DOID:0050328", "evidence": [ { "id": "0050328", "database": "AGR", "url": 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dementia that is characterized by a spectrum of neuropsychiatric symptoms ranging from those that affect the patient's personality to those that cause a decline in cognitive function.", "url": "https://disease-ontology.org/term/DOID:11870", "evidence": [ { "id": "11870", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11870" } ], "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:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "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:1984", "name": "rectal benign neoplasm", "description": "An intestinal benign neoplasm located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:1984", "evidence": [ { "id": "1984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1984" } ], "weight": 0.0 }, { "disease_id": "DOID:234", "name": "colon adenocarcinoma", "description": "A colon carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:234", "evidence": [ { "id": "234", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:234" } ], "weight": 0.0 }, { "disease_id": "DOID:2384", "name": "Wernicke encephalopathy", "description": "A brain disease that is characterized by the presence of neurological symptoms of ophthalmoplegia, ataxia, and confusion caused by biochemical lesions of the central nervous system after exhaustion of B-vitamin reserves, in particular thiamine (vitamin B1).", "url": "https://disease-ontology.org/term/DOID:2384", "evidence": [ { "id": "2384", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2384" } ], "weight": 0.0 }, { "disease_id": "DOID:2560", "name": "morphine dependence", "description": "An opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2560", "evidence": [ { "id": "2560", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2560" } ], "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: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: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: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: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:4451", "name": "renal carcinoma", "description": "A kidney cancer that derives_from the lining of the proximal convoluted tubule (the very small tubes in the kidney that filter the blood and remove waste products).", "url": "https://disease-ontology.org/term/DOID:4451", "evidence": [ { "id": "4451", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4451" } ], "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:6364", "name": "migraine", "description": "A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing.", "url": "https://disease-ontology.org/term/DOID:6364", "evidence": [ { "id": "6364", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6364" } ], "weight": 0.0 }, { "disease_id": "DOID:670", "name": "amphetamine abuse", "description": "A substance abuse that involves the recurring use of amphetamines despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:670", "evidence": [ { "id": "670", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:670" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:9408", "name": "acute myocardial infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:9408", "evidence": [ { "id": "9408", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9408" } ], "weight": 0.0 }, { "disease_id": "DOID:9778", "name": "irritable bowel syndrome", "description": "An intestinal disease that is characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause.", "url": "https://disease-ontology.org/term/DOID:9778", "evidence": [ { "id": "9778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9778" } ], "weight": 0.0 }, { "disease_id": "DOID:9975", "name": "cocaine dependence", "description": "A drug dependence that is a psychological dependency on the regular use of cocaine.", "url": "https://disease-ontology.org/term/DOID:9975", "evidence": [ { "id": "9975", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9975" } ], "weight": 0.0 } ], "biological_process": [ { "name": "embryo development ending in birth or egg hatching", "id": "GO:0009792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009792", "evidence": [ { "database": "UniProtKB", "id": "P21525", "url": "https://www.uniprot.org/uniprotkb/P21525" } ], "pmid": "" }, { "name": "compound eye development", "id": "GO:0048749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048749", "evidence": [ { "database": "UniProtKB", "id": "P21525", "url": "https://www.uniprot.org/uniprotkb/P21525" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": 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"name": "G2/M transition of mitotic cell cycle", "id": "GO:0000086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000086", "evidence": [ { "database": "UniProtKB", "id": "P21525", "url": "https://www.uniprot.org/uniprotkb/P21525" } ], "pmid": "" }, { "name": "negative regulation of locomotion", "id": "GO:0040013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040013", "evidence": [ { "database": "UniProtKB", "id": "P21525", "url": "https://www.uniprot.org/uniprotkb/P21525" } ], "pmid": "" }, { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "P21525", "url": "https://www.uniprot.org/uniprotkb/P21525" } ], "pmid": "" }, { "name": "dendrite morphogenesis", "id": "GO:0048813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048813", "evidence": [ { "database": "UniProtKB", "id": "P21525", "url": "https://www.uniprot.org/uniprotkb/P21525" } ], "pmid": "" }, { "name": "germ cell 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antibacterial peptides active against Gram-negative bacteria", "id": "GO:0006964", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006964", "evidence": [ { "database": "UniProtKB", "id": "P21525", "url": "https://www.uniprot.org/uniprotkb/P21525" } ], "pmid": "" }, { "name": "follicle cell of egg chamber migration", "id": "GO:0007297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007297", "evidence": [ { "database": "UniProtKB", "id": "P21525", "url": "https://www.uniprot.org/uniprotkb/P21525" } ], "pmid": "" }, { "name": "dorsal closure", "id": "GO:0007391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007391", "evidence": [ { "database": "UniProtKB", "id": "P21525", "url": "https://www.uniprot.org/uniprotkb/P21525" } ], "pmid": "" }, { "name": "R3/R4 cell fate commitment", "id": "GO:0007464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007464", "evidence": [ { "database": "UniProtKB", "id": "P21525", "url": "https://www.uniprot.org/uniprotkb/P21525" } ], "pmid": "" }, { "name": "second mitotic wave involved in compound eye morphogenesis", "id": "GO:0016330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016330", "evidence": [ { "database": "UniProtKB", "id": "P21525", "url": "https://www.uniprot.org/uniprotkb/P21525" } ], "pmid": "" }, { "name": "wing disc development", "id": "GO:0035220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035220", "evidence": [ { "database": "UniProtKB", "id": "P21525", "url": "https://www.uniprot.org/uniprotkb/P21525" } ], "pmid": "" }, { "name": "imaginal disc fusion, thorax closure", "id": "GO:0046529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046529", "evidence": [ { "database": "UniProtKB", "id": "P21525", "url": "https://www.uniprot.org/uniprotkb/P21525" } ], "pmid": "" }, { "name": "peptidoglycan recognition protein signaling pathway", "id": "GO:0061057", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061057", "evidence": [ { "database": "UniProtKB", "id": "P21525", "url": "https://www.uniprot.org/uniprotkb/P21525" 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} ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P23380", "url": "https://www.uniprot.org/uniprotkb/P23380" } ], "pmid": "" }, { "name": "vacuolar proton-transporting V-type ATPase, V0 domain", "id": "GO:0000220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000220", "evidence": [ { "database": "UniProtKB", "id": "P23380", "url": "https://www.uniprot.org/uniprotkb/P23380" } ], "pmid": "" }, { "name": "plasma membrane proton-transporting V-type ATPase complex", "id": "GO:0033181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033181", "evidence": [ { "database": "UniProtKB", "id": "P23380", "url": "https://www.uniprot.org/uniprotkb/P23380" } ], "pmid": "" }, { "name": "fusome", "id": "GO:0045169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045169", "evidence": [ { "database": "UniProtKB", "id": "P23380", "url": "https://www.uniprot.org/uniprotkb/P23380" } ], "pmid": "" } ], "molecular_function": [ { "name": "proton-transporting ATPase activity, rotational mechanism", "id": "GO:0046961", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046961", "evidence": [ { "database": "UniProtKB", "id": "P23380", "url": "https://www.uniprot.org/uniprotkb/P23380" } ], "pmid": "" } ], "biological_process": [ { "name": "vacuolar acidification", "id": "GO:0007035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007035", "evidence": [ { "database": "UniProtKB", "id": "P23380", "url": "https://www.uniprot.org/uniprotkb/P23380" } ], "pmid": "" }, { "name": "proton transmembrane transport", "id": "GO:1902600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902600", "evidence": [ { "database": "UniProtKB", "id": "P23380", "url": "https://www.uniprot.org/uniprotkb/P23380" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "P23625-1", "species": [ { "name": "Drosophila 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "P23625", "url": "https://www.uniprot.org/uniprotkb/P23625" } ], "pmid": "" }, { "name": "phototransduction", "id": "GO:0007602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007602", "evidence": [ { "database": "UniProtKB", "id": "P23625", "url": "https://www.uniprot.org/uniprotkb/P23625" } ], "pmid": "" }, { "name": "mucosal immune response", "id": "GO:0002385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002385", "evidence": [ { "database": "UniProtKB", "id": "P23625", "url": "https://www.uniprot.org/uniprotkb/P23625" } ], "pmid": "" }, { "name": "cellular response to carbon dioxide", "id": "GO:0071244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071244", "evidence": [ { "database": "UniProtKB", "id": "P23625", "url": "https://www.uniprot.org/uniprotkb/P23625" } ], "pmid": "" }, { "name": "flight behavior", "id": "GO:0007629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007629", "evidence": [ { "database": "UniProtKB", "id": "P23625", "url": "https://www.uniprot.org/uniprotkb/P23625" } ], "pmid": "" }, { "name": "negative regulation of phospholipase C-activating phototransduction signaling pathway", "id": "GO:0016060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016060", "evidence": [ { "database": "UniProtKB", "id": "P23625", "url": "https://www.uniprot.org/uniprotkb/P23625" } ], "pmid": "" }, { "name": "negative regulation of compound eye retinal cell programmed cell death", "id": "GO:0046673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046673", "evidence": [ { "database": "UniProtKB", "id": "P23625", "url": "https://www.uniprot.org/uniprotkb/P23625" } ], "pmid": "" }, { "name": "regulation of neuromuscular synaptic transmission", "id": "GO:1900073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900073", "evidence": [ { "database": "UniProtKB", "id": "P23625", "url": "https://www.uniprot.org/uniprotkb/P23625" } ], "pmid": "" }, { "name": "phospholipase C-activating opsin-mediated signaling pathway", "id": "GO:0030265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030265", "evidence": [ { "database": "UniProtKB", "id": "P23625", "url": "https://www.uniprot.org/uniprotkb/P23625" } ], "pmid": "" }, { "name": "thermotaxis", "id": "GO:0043052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043052", "evidence": [ { "database": "UniProtKB", "id": "P23625", "url": "https://www.uniprot.org/uniprotkb/P23625" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "P23625", "url": "https://www.uniprot.org/uniprotkb/P23625" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "P23625", "url": "https://www.uniprot.org/uniprotkb/P23625" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P23625", "url": "https://www.uniprot.org/uniprotkb/P23625" } ], "pmid": "" }, { "name": "G protein-coupled receptor binding", "id": "GO:0001664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001664", "evidence": [ { "database": "UniProtKB", "id": "P23625", "url": "https://www.uniprot.org/uniprotkb/P23625" } ], "pmid": "" }, { "name": "G-protein beta/gamma-subunit complex binding", "id": "GO:0031683", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031683", "evidence": [ { "database": "UniProtKB", "id": "P23625", "url": "https://www.uniprot.org/uniprotkb/P23625" } ], "pmid": "" }, { "name": "phospholipase activator activity", "id": "GO:0016004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016004", "evidence": [ { "database": "UniProtKB", "id": "P23625", "url": "https://www.uniprot.org/uniprotkb/P23625" } ], "pmid": "" }, { "name": "G protein activity", "id": "GO:0003925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003925", "evidence": [ { "database": "UniProtKB", "id": "P23625", "url": "https://www.uniprot.org/uniprotkb/P23625" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P23625", "url": "https://www.uniprot.org/uniprotkb/P23625" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P23625", "url": "https://www.uniprot.org/uniprotkb/P23625" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P23625", "url": "https://www.uniprot.org/uniprotkb/P23625" } ], "pmid": "" }, { "name": "heterotrimeric G-protein complex", "id": "GO:0005834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005834", "evidence": [ { "database": "UniProtKB", "id": "P23625", "url": "https://www.uniprot.org/uniprotkb/P23625" } ], "pmid": "" }, { "name": "rhabdomere", "id": "GO:0016028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016028", "evidence": [ { "database": "UniProtKB", "id": "P23625", "url": "https://www.uniprot.org/uniprotkb/P23625" } ], "pmid": "" }, { "name": "inaD signaling complex", "id": "GO:0016027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016027", "evidence": [ { "database": "UniProtKB", "id": "P23625", "url": "https://www.uniprot.org/uniprotkb/P23625" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "P23792-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P23792", "url": "https://www.uniprot.org/uniprotkb/P23792" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 568, "chemical_mass": 62369.0, "gene_names": "disco;CG9908;DISCO;Disco;Dmel\\CG9908;disco;disc", "protein_name": "Protein disconnected", "disease": [ { "disease_id": "DOID:0080873", "name": "primary ovarian insufficiency 16", "description": "A primary ovarian insufficiency that is characterized by onset of amenorrhea early in the fourth decade of life, accompanied by elevated follicle-stimulating hormone levels and low estradiol levels and that has_material_basis_in heterozygous mutation in the BNC1 gene on chromosome 15q25.", "url": "https://disease-ontology.org/term/DOID:0080873", "evidence": [ { "id": "0080873", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080873" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P23792", "url": "https://www.uniprot.org/uniprotkb/P23792" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P23792", "url": "https://www.uniprot.org/uniprotkb/P23792" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulatory region sequence-specific DNA binding", "id": "GO:0000977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000977", "evidence": [ { "database": "UniProtKB", "id": "P23792", "url": "https://www.uniprot.org/uniprotkb/P23792" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P23792", "url": "https://www.uniprot.org/uniprotkb/P23792" } ], "pmid": "" } ], "biological_process": [ { "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": "P23792", "url": "https://www.uniprot.org/uniprotkb/P23792" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P23792", "url": "https://www.uniprot.org/uniprotkb/P23792" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "P23792", "url": "https://www.uniprot.org/uniprotkb/P23792" } ], "pmid": "" }, { "name": "visual perception", "id": "GO:0007601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601", "evidence": [ { "database": "UniProtKB", "id": "P23792", "url": "https://www.uniprot.org/uniprotkb/P23792" } ], "pmid": "" }, { "name": "photoreceptor cell maintenance", "id": "GO:0045494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045494", "evidence": [ { "database": "UniProtKB", "id": "P23792", "url": "https://www.uniprot.org/uniprotkb/P23792" } ], "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": "P23792", "url": "https://www.uniprot.org/uniprotkb/P23792" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "P23792", "url": "https://www.uniprot.org/uniprotkb/P23792" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "P23792", "url": "https://www.uniprot.org/uniprotkb/P23792" } ], "pmid": "" }, { "name": "locomotor rhythm", "id": 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"batch.fruitfly.2" }, { "uniprot_canonical_ac": "P25991-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P25991", "url": "https://www.uniprot.org/uniprotkb/P25991" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 765, "chemical_mass": 88214.0, "gene_names": "su(f);19;28;29;3-DES;3DES;CG17170;CstF-77;CstF77;Cstf77;Dmel\\CG17170;EC235;R-9-18;R9-18;SU-f;Su(f);l(1)20Eb;l(1)3DES;l(1)EC235;l(1)G0393;l(1)R-9-18;l(1)X1;l(1)X3;l(1)su(f);l3DES;su(f);su-f;su[+]-f", "protein_name": "Protein suppressor of forked", "disease": [], "molecular_function": [ { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "P25991", "url": "https://www.uniprot.org/uniprotkb/P25991" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": 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"name": "polytene chromosome band", "id": "GO:0005704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005704", "evidence": [ { "database": "UniProtKB", "id": "P26017", "url": "https://www.uniprot.org/uniprotkb/P26017" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P26017-1", "start_pos": "81", "end_pos": "81", "site_lbl": "Thr81", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 81, "start_aa": "Thr", "end_pos": 81, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr81", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.2" }, { 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"B52;B52/SRp55;B52/dSRp55;B52;CG10851;Dmel\\CG10851;E(Dfd);E726;MabB52;RRM8;RS55;RSp55;Rbp8;SR55;SRSF6;SRp55;dSRp55;l(3)s2249;rrm8", "protein_name": "Serine-arginine protein 55", "disease": [ { "disease_id": "DOID:0070168", "name": "spermatogenic failure 3", "description": "A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive asthenozoospermia that has_material_basis_in heterozygous mutation in the SLC26A8 gene on chromosome 6p21.", "url": "https://disease-ontology.org/term/DOID:0070168", "evidence": [ { "id": "0070168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070168" } ], "weight": 0.0 }, { "disease_id": "DOID:12858", "name": "Huntington's disease", "description": "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet 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"pmid": "" } ], "biological_process": [ { "name": "rRNA processing", "id": "GO:0006364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006364", "evidence": [ { "database": "UniProtKB", "id": "P26802", "url": "https://www.uniprot.org/uniprotkb/P26802" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "P27779-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P27779", "url": "https://www.uniprot.org/uniprotkb/P27779" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 122, "chemical_mass": 13347.0, "gene_names": "Edg78E;CG7673;DMLCP78;DmelEdg78E;Dmel\\CG7673;Dmel_CG7673;EDG-78E;EDG-78;EDG78E;EDG78;Edg78E;Edg78e;Edg78", "protein_name": "Pupal cuticle protein Edg-78E", "disease": [], "molecular_function": [ { "name": "structural constituent of chitin-based larval 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} ], "cellular_component": [ { "name": "chitin-based extracellular matrix", "id": "GO:0062129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062129", "evidence": [ { "database": "UniProtKB", "id": "P27779", "url": "https://www.uniprot.org/uniprotkb/P27779" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "P28518-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P28518", "url": "https://www.uniprot.org/uniprotkb/P28518" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 296, "chemical_mass": 33875.0, "gene_names": "Xpac;CG6358;DhR14;DhXPA;DmXPA;Dmel\\CG6358;Dxpa;EG:EG0007.8;XPAC;XPA_DROME;XPA;Xpac;Xpa;dmXPA;dxpa", "protein_name": "DNA repair protein complementing XP-A cells homolog", "disease": [ { "disease_id": "DOID:0050427", "name": "xeroderma 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ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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 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anemia", "description": "A microcytic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes).", "url": "https://disease-ontology.org/term/DOID:8955", "evidence": [ { "id": "8955", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8955" } ], "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", 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"unfolded protein binding", "id": "GO:0051082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051082", "evidence": [ { "database": "UniProtKB", "id": "P29413", "url": "https://www.uniprot.org/uniprotkb/P29413" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P29413", "url": "https://www.uniprot.org/uniprotkb/P29413" } ], "pmid": "" }, { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "P29413", "url": "https://www.uniprot.org/uniprotkb/P29413" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "P29742-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P29742", "url": 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0.0 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P29742", "url": "https://www.uniprot.org/uniprotkb/P29742" } ], "pmid": "" }, { "name": "clathrin-coated pit", "id": "GO:0005905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005905", "evidence": [ { "database": "UniProtKB", "id": "P29742", "url": "https://www.uniprot.org/uniprotkb/P29742" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "P29742", "url": "https://www.uniprot.org/uniprotkb/P29742" } ], "pmid": "" }, { "name": "secretory granule", "id": "GO:0030141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030141", "evidence": [ { "database": "UniProtKB", "id": "P29742", "url": "https://www.uniprot.org/uniprotkb/P29742" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P29742", "url": "https://www.uniprot.org/uniprotkb/P29742" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "P29742", "url": "https://www.uniprot.org/uniprotkb/P29742" } ], "pmid": "" }, { "name": "clathrin-coated vesicle", "id": "GO:0030136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030136", "evidence": [ { "database": "UniProtKB", "id": "P29742", "url": "https://www.uniprot.org/uniprotkb/P29742" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "P29742", "url": "https://www.uniprot.org/uniprotkb/P29742" } ], "pmid": "" }, { "name": "clathrin-coated endocytic vesicle", "id": "GO:0045334", "url": 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"evidence": [ { "database": "UniProtKB", "id": "P33269", "url": "https://www.uniprot.org/uniprotkb/P33269" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "P33270-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P33270", "url": "https://www.uniprot.org/uniprotkb/P33270" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 506, "chemical_mass": 58685.0, "gene_names": "Cyp6a2;143127_at;6a2;91-R;91R;CG9438;CYP6A2;CYP6a2;CYT-P450-B1;Cyp6A2;Cyp6a2;Cyp6a;Cyt-P450-B1;Dmel\\CG9438;P-450-B;P-450;P450-B1;P450-B;P450;cyp6a2", "protein_name": "Cytochrome P450 6a2", "disease": [], "molecular_function": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "P33270", "url": "https://www.uniprot.org/uniprotkb/P33270" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "P33270", "url": "https://www.uniprot.org/uniprotkb/P33270" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004497", "evidence": [ { "database": "UniProtKB", "id": "P33270", "url": "https://www.uniprot.org/uniprotkb/P33270" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen", "id": "GO:0016705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016705", "evidence": [ { "database": "UniProtKB", "id": "P33270", "url": "https://www.uniprot.org/uniprotkb/P33270" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", 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interfere with breathing.", "url": "https://disease-ontology.org/term/DOID:0080171", "evidence": [ { "id": "0080171", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080171" } ], "weight": 0.0 }, { "disease_id": "DOID:0080815", "name": "childhood-onset asthma", "description": "A chronic asthma that is characterized by first presentation in early childhood.", "url": "https://disease-ontology.org/term/DOID:0080815", "evidence": [ { "id": "0080815", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080815" } ], "weight": 0.0 }, { "disease_id": "DOID:0080820", "name": "occupational asthma", "description": "An environmental induced asthma that is characterized by a variable airflow limitation due to exposure to inhaled irritants in the workplace.", "url": "https://disease-ontology.org/term/DOID:0080820", "evidence": [ { "id": "0080820", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080820" } ], "weight": 0.0 }, { 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"" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "P35220", "url": "https://www.uniprot.org/uniprotkb/P35220" } ], "pmid": "" }, { "name": "adherens junction organization", "id": "GO:0034332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034332", "evidence": [ { "database": "UniProtKB", "id": "P35220", "url": "https://www.uniprot.org/uniprotkb/P35220" } ], "pmid": "" }, { "name": "adherens junction assembly", "id": "GO:0034333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034333", "evidence": [ { "database": "UniProtKB", "id": "P35220", "url": "https://www.uniprot.org/uniprotkb/P35220" } ], "pmid": "" }, { "name": "apical constriction", "id": "GO:0003383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003383", "evidence": [ { "database": "UniProtKB", "id": "P35220", "url": "https://www.uniprot.org/uniprotkb/P35220" } ], "pmid": "" }, { "name": "dorsal closure, 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"https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "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": "P48148", "url": "https://www.uniprot.org/uniprotkb/P48148" } ], "pmid": "" }, { "name": "regulation of axonogenesis", "id": "GO:0050770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050770", "evidence": [ { "database": "UniProtKB", "id": "P48148", "url": "https://www.uniprot.org/uniprotkb/P48148" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "P48148", "url": "https://www.uniprot.org/uniprotkb/P48148" } ], "pmid": "" }, { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "P48148", "url": "https://www.uniprot.org/uniprotkb/P48148" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P48148", "url": "https://www.uniprot.org/uniprotkb/P48148" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "P48148", "url": "https://www.uniprot.org/uniprotkb/P48148" } ], "pmid": "" }, { "name": "regulation of actin cytoskeleton organization", "id": "GO:0032956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032956", "evidence": [ { "database": "UniProtKB", "id": "P48148", "url": "https://www.uniprot.org/uniprotkb/P48148" } ], "pmid": "" }, { "name": "negative regulation of canonical Wnt signaling pathway", "id": "GO:0090090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "evidence": [ { "database": "UniProtKB", "id": "P48148", "url": "https://www.uniprot.org/uniprotkb/P48148" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "P48148", "url": "https://www.uniprot.org/uniprotkb/P48148" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "P48148", "url": "https://www.uniprot.org/uniprotkb/P48148" } ], "pmid": "" }, { "name": "actin filament bundle assembly", "id": "GO:0051017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051017", "evidence": [ { "database": "UniProtKB", "id": "P48148", "url": "https://www.uniprot.org/uniprotkb/P48148" } ], "pmid": "" }, { "name": "visual perception", "id": "GO:0007601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601", "evidence": [ { "database": "UniProtKB", "id": "P48148", "url": "https://www.uniprot.org/uniprotkb/P48148" } ], "pmid": "" }, { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "P48148", "url": "https://www.uniprot.org/uniprotkb/P48148" } ], "pmid": "" }, { "name": "positive regulation of wound healing", "id": "GO:0090303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090303", "evidence": [ { "database": "UniProtKB", "id": "P48148", "url": "https://www.uniprot.org/uniprotkb/P48148" } ], "pmid": "" }, { "name": "small GTPase-mediated signal transduction", "id": "GO:0007264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007264", "evidence": [ { "database": "UniProtKB", "id": "P48148", "url": "https://www.uniprot.org/uniprotkb/P48148" } ], "pmid": "" }, { "name": "establishment of protein localization", "id": "GO:0045184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045184", "evidence": [ { "database": "UniProtKB", "id": "P48148", "url": "https://www.uniprot.org/uniprotkb/P48148" } ], "pmid": "" }, { "name": "peripheral nervous system development", "id": "GO:0007422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007422", "evidence": [ { "database": "UniProtKB", "id": "P48148", "url": "https://www.uniprot.org/uniprotkb/P48148" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "P48148", "url": "https://www.uniprot.org/uniprotkb/P48148" } ], "pmid": "" }, { "name": "positive regulation of protein serine/threonine kinase activity", "id": "GO:0071902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071902", "evidence": [ { "database": "UniProtKB", "id": "P48148", "url": "https://www.uniprot.org/uniprotkb/P48148" } ], "pmid": "" }, { "name": "cortical actin cytoskeleton 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"GO:0030030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030030", "evidence": [ { "database": "UniProtKB", "id": "P48148", "url": "https://www.uniprot.org/uniprotkb/P48148" } ], "pmid": "" }, { "name": "maintenance of epithelial cell apical/basal polarity", "id": "GO:0045199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045199", "evidence": [ { "database": "UniProtKB", "id": "P48148", "url": "https://www.uniprot.org/uniprotkb/P48148" } ], "pmid": "" }, { "name": "regulation of cytoskeleton organization", "id": "GO:0051493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051493", "evidence": [ { "database": "UniProtKB", "id": "P48148", "url": "https://www.uniprot.org/uniprotkb/P48148" } ], "pmid": "" }, { "name": "regulation of filopodium assembly", "id": "GO:0051489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051489", "evidence": [ { "database": "UniProtKB", "id": "P48148", "url": "https://www.uniprot.org/uniprotkb/P48148" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "P48148", "url": "https://www.uniprot.org/uniprotkb/P48148" } ], "pmid": "" }, { "name": "neuroblast proliferation", "id": "GO:0007405", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007405", "evidence": [ { "database": "UniProtKB", "id": "P48148", "url": "https://www.uniprot.org/uniprotkb/P48148" } ], "pmid": "" }, { "name": "establishment or maintenance of actin cytoskeleton polarity", "id": "GO:0030950", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030950", "evidence": [ { "database": "UniProtKB", "id": "P48148", "url": "https://www.uniprot.org/uniprotkb/P48148" } ], "pmid": "" }, { "name": "endocytic recycling", "id": "GO:0032456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032456", "evidence": [ { "database": "UniProtKB", "id": "P48148", "url": "https://www.uniprot.org/uniprotkb/P48148" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "P48148", "url": "https://www.uniprot.org/uniprotkb/P48148" } ], "pmid": "" }, { "name": "adherens junction maintenance", "id": "GO:0034334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034334", "evidence": [ { "database": "UniProtKB", "id": "P48148", "url": "https://www.uniprot.org/uniprotkb/P48148" } ], "pmid": "" }, { "name": "motor neuron axon guidance", "id": "GO:0008045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008045", "evidence": [ { "database": "UniProtKB", "id": "P48148", "url": "https://www.uniprot.org/uniprotkb/P48148" } ], "pmid": "" }, { "name": "dendrite self-avoidance", "id": "GO:0070593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070593", "evidence": [ { "database": "UniProtKB", "id": "P48148", "url": "https://www.uniprot.org/uniprotkb/P48148" } ], "pmid": "" }, { "name": "salivary gland morphogenesis", "id": "GO:0007435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007435", "evidence": [ { "database": "UniProtKB", "id": "P48148", "url": "https://www.uniprot.org/uniprotkb/P48148" } ], "pmid": "" }, { "name": "glial cell migration", "id": "GO:0008347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008347", "evidence": [ { "database": "UniProtKB", "id": "P48148", "url": "https://www.uniprot.org/uniprotkb/P48148" } ], "pmid": "" }, { "name": "protein localization to adherens junction", "id": "GO:0071896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071896", "evidence": [ { "database": "UniProtKB", "id": "P48148", "url": "https://www.uniprot.org/uniprotkb/P48148" } ], "pmid": "" }, { "name": "apical constriction", "id": "GO:0003383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003383", "evidence": [ { "database": "UniProtKB", "id": "P48148", "url": "https://www.uniprot.org/uniprotkb/P48148" } ], "pmid": "" }, { "name": "regulation of embryonic cell shape", "id": "GO:0016476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016476", "evidence": [ { "database": "UniProtKB", "id": "P48148", "url": "https://www.uniprot.org/uniprotkb/P48148" } ], "pmid": "" }, { "name": "establishment of planar polarity of embryonic epithelium", "id": "GO:0042249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042249", "evidence": [ { "database": "UniProtKB", "id": "P48148", "url": "https://www.uniprot.org/uniprotkb/P48148" } ], "pmid": "" }, { "name": "protein localization involved in establishment of planar polarity", "id": "GO:0090251", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090251", "evidence": [ { "database": "UniProtKB", "id": "P48148", "url": "https://www.uniprot.org/uniprotkb/P48148" } ], "pmid": "" }, { "name": "actin-mediated cell contraction", "id": "GO:0070252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070252", "evidence": [ { "database": "UniProtKB", "id": "P48148", "url": "https://www.uniprot.org/uniprotkb/P48148" } ], "pmid": "" }, { "name": "regulation of myoblast fusion", "id": "GO:1901739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901739", "evidence": [ { "database": "UniProtKB", "id": "P48148", "url": "https://www.uniprot.org/uniprotkb/P48148" } ], "pmid": "" }, { "name": "tracheal pit formation in open tracheal system", "id": "GO:0035202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035202", "evidence": [ { "database": "UniProtKB", "id": "P48148", "url": "https://www.uniprot.org/uniprotkb/P48148" } ], "pmid": "" }, { "name": "mitotic actomyosin contractile ring assembly", "id": "GO:1903475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903475", "evidence": [ { "database": "UniProtKB", "id": "P48148", "url": "https://www.uniprot.org/uniprotkb/P48148" } ], "pmid": "" }, { "name": "regulation of Malpighian tubule size", "id": "GO:0035298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035298", "evidence": [ { "database": "UniProtKB", "id": "P48148", "url": "https://www.uniprot.org/uniprotkb/P48148" } ], "pmid": "" }, { 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], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 376, "chemical_mass": 41700.0, "gene_names": "Act88F;ACT88F;Act(88F);Act88-F;Act88F;Act88f;Actin88F;Actin;ArpD;CG5178;Dmel\\CG5178;E;Ifm(3)7;P83967;act 88F;act88F;actin;rsd", "protein_name": "Actin, indirect flight muscle", "disease": [ { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0081112", "name": "Baraitser-Winter syndrome 1", "description": "A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTB gene on chromosome 7p22. 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The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet.", "url": "https://disease-ontology.org/term/DOID:10881", "evidence": [ { "id": "10881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10881" } ], "weight": 0.0 }, { "disease_id": "DOID:13099", "name": "Moyamoya disease", "description": "A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. 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The muscle cells contain abnormal clumps of threadlike material called nemaline bodies.", "url": "https://disease-ontology.org/term/DOID:3191", "evidence": [ { "id": "3191", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3191" } ], "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:422", "name": "congenital structural myopathy", "description": "A myopathy that is characterized by hypotonia, muscle weakness, and delayed development of motor skills.", "url": "https://disease-ontology.org/term/DOID:422", "evidence": [ { "id": "422", "database": "AGR", "url": 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"evidence": [ { "database": "UniProtKB", "id": "P83967", "url": "https://www.uniprot.org/uniprotkb/P83967" } ], "pmid": "" } ], "biological_process": [ { "name": "mitotic cytokinesis", "id": "GO:0000281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000281", "evidence": [ { "database": "UniProtKB", "id": "P83967", "url": "https://www.uniprot.org/uniprotkb/P83967" } ], "pmid": "" }, { "name": "myofibril assembly", "id": "GO:0030239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030239", "evidence": [ { "database": "UniProtKB", "id": "P83967", "url": "https://www.uniprot.org/uniprotkb/P83967" } ], "pmid": "" }, { "name": "muscle thin filament assembly", "id": "GO:0071689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071689", "evidence": [ { "database": "UniProtKB", "id": "P83967", "url": "https://www.uniprot.org/uniprotkb/P83967" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "P84051-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P84051", "url": "https://www.uniprot.org/uniprotkb/P84051" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 124, "chemical_mass": 13363.0, "gene_names": "His2A:CG31618;His2A:CG33808;His2A:CG33814;His2A:CG33817;His2A:CG33820;His2A:CG33823;His2A:CG33826;His2A:CG33829;His2A:CG33832;His2A:CG33835;His2A:CG33838;His2A:CG33841;His2A:CG33844;His2A:CG33847;His2A:CG33850;His2A:CG33862;His2A:CG33865;His2A;CG31618;CG33808;CG33814;CG33817;CG33820;CG33823;CG33826;CG33829;CG33832;CG33835;CG33838;CG33841;CG33844;CG33847;CG33850;CG33862;CG33865;Dmel\\CG33808;H2a;His2A:CG33808", "protein_name": "Histone H2A", "disease": [ { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": 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regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q02360", "url": "https://www.uniprot.org/uniprotkb/Q02360" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q02360", "url": "https://www.uniprot.org/uniprotkb/Q02360" } ], "pmid": "" }, { "name": "anatomical structure morphogenesis", "id": "GO:0009653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009653", "evidence": [ { "database": "UniProtKB", "id": "Q02360", "url": "https://www.uniprot.org/uniprotkb/Q02360" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q02360", "url": 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} ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q03372-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q03372", "url": "https://www.uniprot.org/uniprotkb/Q03372" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 515, "chemical_mass": 54250.0, "gene_names": "Dr;153515_at;99B;CG1897;Dmel\\CG1897;Dr/Msh;Dr/msh;Dr;Msh;Msx;l(3)FA30;ltt;msh-1;msh1;msh", "protein_name": "Muscle segmentation homeobox", "disease": [ { "disease_id": "DOID:0050567", "name": "orofacial cleft", "description": "A physical disorder that is characterized by cleft lip and/or cleft palate that result in feeding, speech and hearing problems caused by failures during development.", "url": "https://disease-ontology.org/term/DOID:0050567", "evidence": [ { "id": "0050567", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050567" } ], "weight": 0.0 }, { "disease_id": "DOID:0050591", "name": "tooth agenesis", "description": "A tooth disease characterized by failure to develop one or more missing teeth.", "url": "https://disease-ontology.org/term/DOID:0050591", "evidence": [ { "id": "0050591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050591" } ], "weight": 0.0 }, { "disease_id": "DOID:0060285", "name": "parietal foramina", "description": "An inherited neural tube defect that is characterized by enlarged openings in the parietal bones of the skull, has_material_basis_in mutation in the ALX4 gene or MSX2 gene.", "url": "https://disease-ontology.org/term/DOID:0060285", "evidence": [ { "id": "0060285", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060285" } ], "weight": 0.0 }, { "disease_id": "DOID:0061009", "name": "craniosynostosis 2", "description": "A craniosynostosis characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly that has_material_basis_in heterozygous mutation in the MSX2 gene on chromosome 5q35.", "url": "https://disease-ontology.org/term/DOID:0061009", "evidence": [ { "id": "0061009", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061009" } ], "weight": 0.0 }, { "disease_id": "DOID:0080399", "name": "orofacial cleft 5", "description": "An orofacial cleft that has_material_basis_in mutation in the MSX1 gene on chromosome 4p16.", "url": "https://disease-ontology.org/term/DOID:0080399", "evidence": [ { "id": "0080399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080399" } ], "weight": 0.0 }, { "disease_id": "DOID:13714", "name": "anodontia", "description": "A tooth disease that is characterized by complete absence of permanent teeth.", "url": "https://disease-ontology.org/term/DOID:13714", "evidence": [ { "id": "13714", "database": "AGR", "url": 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Abolishes homomultimerization; when associated with A-571.", "evidence": [ { "database": "UniProtKB", "id": "Q23985", "url": "https://www.uniprot.org/uniprotkb/Q23985" }, { "database": "PubMed", "id": "11861487", "url": "https://glygen.org/publication/PubMed/11861487" } ] } ] } ], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q24087-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q24087", "url": "https://www.uniprot.org/uniprotkb/Q24087" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 961, "chemical_mass": 109519.0, "gene_names": "mei-9;CG3697;DhR1;DmXPF;Dmel\\CG3697;MEI-9;Mei-9;Rad1p;mei-9;mei9;mus(1)110;mus110;xpf/mei-9", "protein_name": "DNA repair endonuclease XPF", "disease": [ { "disease_id": "DOID:0050427", "name": "xeroderma pigmentosum", "description": "A syndrome that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair.", "url": "https://disease-ontology.org/term/DOID:0050427", "evidence": [ { "id": "0050427", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050427" } ], "weight": 0.0 }, { "disease_id": "DOID:0060590", "name": "XFE progeroid syndrome", "description": "A progeroid syndrome that is characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly and that has_material_basis_in homozygous mutation in the ERCC4 gene on chromosome 16p13.", "url": "https://disease-ontology.org/term/DOID:0060590", "evidence": [ { "id": "0060590", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060590" } ], "weight": 0.0 }, { "disease_id": "DOID:0110843", "name": "xeroderma pigmentosum group A", "description": "A xeroderma pigmentosum characterized by involvement of the central and peripheral nervous systems in addition to cutaneous lesions that has_material_basis_in caused by homozygous or compound heterozygous mutation in the XPA gene on chromosome 9q22.", "url": "https://disease-ontology.org/term/DOID:0110843", "evidence": [ { "id": "0110843", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110843" } ], "weight": 0.0 }, { "disease_id": "DOID:0110848", "name": "xeroderma pigmentosum group F", "description": "A xeroderma pigmentosum characterized by milder symptoms and later onset of skin cancer that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC4 gene on chromosome 16p13.", "url": "https://disease-ontology.org/term/DOID:0110848", "evidence": [ { "id": "0110848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110848" } ], "weight": 0.0 }, { "disease_id": "DOID:0111093", "name": "Fanconi anemia complementation group Q", "description": "A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the ERCC4 gene on chromosome 16p13.", "url": "https://disease-ontology.org/term/DOID:0111093", "evidence": [ { "id": "0111093", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111093" } ], "weight": 0.0 }, { "disease_id": "DOID:13636", "name": "Fanconi anemia", "description": "A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. 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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:2962", "name": "Cockayne syndrome", "description": "A syndrome that is characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development.", "url": "https://disease-ontology.org/term/DOID:2962", "evidence": [ { "id": "2962", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2962" } ], "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": "resolution of meiotic recombination intermediates", "id": "GO:0000712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000712", "evidence": [ { "database": "UniProtKB", "id": "Q24087", "url": "https://www.uniprot.org/uniprotkb/Q24087" } ], "pmid": "" }, { "name": "female meiosis chromosome segregation", "id": "GO:0016321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016321", "evidence": [ { "database": "UniProtKB", "id": "Q24087", "url": "https://www.uniprot.org/uniprotkb/Q24087" } ], "pmid": "" }, { "name": "DNA recombination", "id": "GO:0006310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006310", "evidence": [ { "database": "UniProtKB", "id": "Q24087", "url": "https://www.uniprot.org/uniprotkb/Q24087" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q24087", "url": "https://www.uniprot.org/uniprotkb/Q24087" } ], "pmid": "" }, { "name": "mismatch repair", "id": "GO:0006298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006298", "evidence": [ { "database": "UniProtKB", "id": "Q24087", "url": "https://www.uniprot.org/uniprotkb/Q24087" } ], "pmid": "" }, { "name": "double-strand break repair", "id": "GO:0006302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006302", "evidence": [ { "database": "UniProtKB", "id": "Q24087", "url": "https://www.uniprot.org/uniprotkb/Q24087" } ], "pmid": "" }, { "name": "female meiotic nuclear division", "id": "GO:0007143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007143", "evidence": [ { "database": "UniProtKB", "id": "Q24087", "url": "https://www.uniprot.org/uniprotkb/Q24087" } ], "pmid": "" }, { "name": "double-strand break repair via homologous recombination", "id": "GO:0000724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000724", "evidence": [ { "database": "UniProtKB", "id": "Q24087", "url": "https://www.uniprot.org/uniprotkb/Q24087" } ], "pmid": "" }, { "name": "meiotic chromosome segregation", "id": "GO:0045132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045132", "evidence": [ { "database": "UniProtKB", "id": "Q24087", "url": "https://www.uniprot.org/uniprotkb/Q24087" } ], "pmid": "" }, { "name": "nucleotide-excision repair", "id": "GO:0006289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006289", "evidence": [ { "database": "UniProtKB", "id": "Q24087", "url": "https://www.uniprot.org/uniprotkb/Q24087" } ], "pmid": "" }, { "name": "reciprocal meiotic recombination", "id": "GO:0007131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007131", "evidence": [ { "database": "UniProtKB", "id": "Q24087", "url": "https://www.uniprot.org/uniprotkb/Q24087" } ], "pmid": "" }, { "name": "nucleotide-excision repair involved in interstrand cross-link repair", "id": "GO:1901255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901255", "evidence": [ { "database": "UniProtKB", "id": "Q24087", "url": "https://www.uniprot.org/uniprotkb/Q24087" } ], "pmid": "" }, { "name": "oocyte fate determination", "id": "GO:0030716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030716", "evidence": [ { "database": "UniProtKB", "id": "Q24087", "url": "https://www.uniprot.org/uniprotkb/Q24087" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleotide-excision repair factor 1 complex", "id": "GO:0000110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000110", "evidence": [ { "database": "UniProtKB", "id": "Q24087", "url": "https://www.uniprot.org/uniprotkb/Q24087" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q24087", "url": "https://www.uniprot.org/uniprotkb/Q24087" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q24087", "url": "https://www.uniprot.org/uniprotkb/Q24087" } ], "pmid": "" }, { "name": "damaged DNA binding", "id": "GO:0003684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003684", "evidence": [ { "database": "UniProtKB", "id": "Q24087", "url": "https://www.uniprot.org/uniprotkb/Q24087" } ], "pmid": "" }, { "name": "single-stranded DNA binding", "id": "GO:0003697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003697", "evidence": [ { "database": "UniProtKB", "id": "Q24087", "url": "https://www.uniprot.org/uniprotkb/Q24087" } ], "pmid": "" }, { "name": "single-stranded DNA endodeoxyribonuclease activity", "id": "GO:0000014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000014", "evidence": [ { "database": "UniProtKB", "id": "Q24087", "url": "https://www.uniprot.org/uniprotkb/Q24087" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q24155-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q24155", "url": "https://www.uniprot.org/uniprotkb/Q24155" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 226, "chemical_mass": 26348.0, "gene_names": "trk;CG5619;Dmel\\CG5619;Trk;fs(2)trunk;grk;trk", "protein_name": "Protein trunk", "disease": [], "molecular_function": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q24155", "url": "https://www.uniprot.org/uniprotkb/Q24155" } ], "pmid": "" }, { "name": "receptor ligand activity", "id": "GO:0048018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048018", "evidence": [ { "database": "UniProtKB", "id": "Q24155", "url": "https://www.uniprot.org/uniprotkb/Q24155" } ], "pmid": "" }, { "name": "torso binding", "id": "GO:0005122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005122", "evidence": [ { "database": "UniProtKB", "id": "Q24155", "url": "https://www.uniprot.org/uniprotkb/Q24155" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q24155", "url": "https://www.uniprot.org/uniprotkb/Q24155" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of BMP signaling pathway", "id": "GO:0030514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030514", "evidence": [ { "database": "UniProtKB", "id": "Q24155", "url": "https://www.uniprot.org/uniprotkb/Q24155" } ], "pmid": "" }, { "name": "negative regulation of cell differentiation", "id": "GO:0045596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045596", "evidence": [ { "database": "UniProtKB", "id": "Q24155", "url": "https://www.uniprot.org/uniprotkb/Q24155" } ], "pmid": "" }, { "name": "terminal region determination", "id": "GO:0007362", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007362", "evidence": [ { "database": "UniProtKB", "id": "Q24155", "url": "https://www.uniprot.org/uniprotkb/Q24155" } ], "pmid": "" }, { "name": "torso signaling pathway", "id": "GO:0008293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008293", "evidence": [ { "database": "UniProtKB", "id": "Q24155", "url": "https://www.uniprot.org/uniprotkb/Q24155" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q24178-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q24178", "url": "https://www.uniprot.org/uniprotkb/Q24178" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 249, "chemical_mass": 27940.0, "gene_names": "Prosalpha4T1;CG17268;Dmel\\CG17268;Pros28.1A;Pros28.2;Prosalpha4T1;a4-t1;alpha4T1;alpha4t1_dm;alpha4t1;dalpha7;pros28.1A", "protein_name": "Proteasome subunit alpha type-7-1A", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q24178", "url": "https://www.uniprot.org/uniprotkb/Q24178" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q24178", "url": "https://www.uniprot.org/uniprotkb/Q24178" } ], "pmid": "" }, { "name": "proteasome core complex, alpha-subunit complex", "id": "GO:0019773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019773", "evidence": [ { "database": "UniProtKB", "id": "Q24178", "url": "https://www.uniprot.org/uniprotkb/Q24178" } ], "pmid": "" } ], "biological_process": [ { "name": "proteasome-mediated ubiquitin-dependent protein catabolic process", "id": "GO:0043161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043161", "evidence": [ { "database": "UniProtKB", "id": "Q24178", "url": "https://www.uniprot.org/uniprotkb/Q24178" } ], "pmid": "" }, { "name": "proteasomal protein catabolic process", "id": "GO:0010498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010498", "evidence": [ { "database": "UniProtKB", "id": "Q24178", "url": "https://www.uniprot.org/uniprotkb/Q24178" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q24192-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q24192", "url": "https://www.uniprot.org/uniprotkb/Q24192" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 190, "chemical_mass": 21880.0, "gene_names": "RhoL;9366;CG9366;D-RhoL;DRhoL;DmRHO-L;Dmel\\CG9366;Drac3;G;Mes1;Rac3;RhoG;RhoL/Rac3;RhoL;Rhol;anon-EST:CL1c2;rhoL;rhol;rol", "protein_name": "Ras-like GTP-binding protein RhoL", "disease": [], "biological_process": [ { "name": "positive regulation of cell-cell adhesion", "id": "GO:0022409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022409", "evidence": [ { "database": "UniProtKB", "id": "Q24192", "url": "https://www.uniprot.org/uniprotkb/Q24192" } ], "pmid": "" }, { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "Q24192", "url": "https://www.uniprot.org/uniprotkb/Q24192" } ], "pmid": "" }, { "name": "regulation of actin cytoskeleton organization", "id": "GO:0032956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032956", "evidence": [ { "database": "UniProtKB", "id": "Q24192", "url": "https://www.uniprot.org/uniprotkb/Q24192" } ], "pmid": "" }, { "name": "Rac protein signal transduction", "id": "GO:0016601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016601", "evidence": [ { "database": "UniProtKB", "id": "Q24192", "url": "https://www.uniprot.org/uniprotkb/Q24192" } ], "pmid": "" }, { "name": "cell chemotaxis", "id": "GO:0060326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060326", "evidence": [ { "database": "UniProtKB", "id": "Q24192", "url": "https://www.uniprot.org/uniprotkb/Q24192" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "Q24192", "url": "https://www.uniprot.org/uniprotkb/Q24192" } ], "pmid": "" }, { "name": "establishment or maintenance of cell polarity", "id": "GO:0007163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007163", "evidence": [ { "database": "UniProtKB", "id": "Q24192", "url": "https://www.uniprot.org/uniprotkb/Q24192" } ], "pmid": "" }, { "name": "motor neuron axon guidance", "id": "GO:0008045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008045", "evidence": [ { "database": "UniProtKB", "id": "Q24192", "url": "https://www.uniprot.org/uniprotkb/Q24192" } ], "pmid": "" }, { "name": "cortical cytoskeleton organization", "id": "GO:0030865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030865", "evidence": [ { "database": "UniProtKB", "id": "Q24192", "url": "https://www.uniprot.org/uniprotkb/Q24192" } ], "pmid": "" }, { "name": "mesoderm development", "id": "GO:0007498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007498", "evidence": [ { "database": "UniProtKB", "id": "Q24192", "url": "https://www.uniprot.org/uniprotkb/Q24192" } ], "pmid": "" }, { "name": "cell projection assembly", "id": "GO:0030031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030031", "evidence": [ { "database": "UniProtKB", "id": "Q24192", "url": "https://www.uniprot.org/uniprotkb/Q24192" } ], "pmid": "" }, { "name": "border follicle cell migration", "id": "GO:0007298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007298", "evidence": [ { "database": "UniProtKB", "id": "Q24192", "url": "https://www.uniprot.org/uniprotkb/Q24192" } ], "pmid": "" }, { "name": "hemocyte development", "id": "GO:0007516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007516", "evidence": [ { "database": "UniProtKB", "id": "Q24192", "url": "https://www.uniprot.org/uniprotkb/Q24192" } ], "pmid": "" }, { "name": "melanotic encapsulation of foreign target", "id": "GO:0035011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035011", "evidence": [ { "database": "UniProtKB", "id": "Q24192", "url": "https://www.uniprot.org/uniprotkb/Q24192" } ], "pmid": "" }, { "name": "hemocyte migration", "id": "GO:0035099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035099", "evidence": [ { "database": "UniProtKB", "id": "Q24192", "url": "https://www.uniprot.org/uniprotkb/Q24192" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q24192", "url": "https://www.uniprot.org/uniprotkb/Q24192" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q24192", "url": "https://www.uniprot.org/uniprotkb/Q24192" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q24192", "url": "https://www.uniprot.org/uniprotkb/Q24192" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q24192", "url": "https://www.uniprot.org/uniprotkb/Q24192" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q24192", "url": "https://www.uniprot.org/uniprotkb/Q24192" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q24192", "url": "https://www.uniprot.org/uniprotkb/Q24192" } ], "pmid": "" }, { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "Q24192", "url": "https://www.uniprot.org/uniprotkb/Q24192" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q24210-3", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q24210", "url": "https://www.uniprot.org/uniprotkb/Q24210" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 898, "chemical_mass": 100911.0, "gene_names": "CASK;CAKI;CAMGUK;CASK-beta;CASK;CG13412;CG13413;CG6703;CMG/CASK;CMG;CaSK;Caki;CamGUK;CamguK;Camguk;Cask;Cmg;DLin-2;Dmel\\CG6703;RE09582p;caki;camguk;cask;cmg;dCASK", "protein_name": "Peripheral plasma membrane protein CASK", "disease": [ { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:0060309", "name": "syndromic X-linked intellectual disability", "description": "A syndromic intellectual disability characterized by an X-linked inheritance pattern.", "url": "https://disease-ontology.org/term/DOID:0060309", "evidence": [ { "id": "0060309", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060309" } ], "weight": 0.0 }, { "disease_id": "DOID:0060807", "name": "syndromic X-linked intellectual disability Najm type", "description": "A syndromic X-linked intellectual disability characterized by severe intellectual disability, microcephaly with pontine and cerebellar hypoplasia that has_material_basis_in heterozygous mutation or deletion in the CASK gene on chromosome Xp11.", "url": "https://disease-ontology.org/term/DOID:0060807", "evidence": [ { "id": "0060807", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060807" } ], "weight": 0.0 }, { "disease_id": "DOID:14711", "name": "FG syndrome", "description": "A syndrome characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern.", "url": "https://disease-ontology.org/term/DOID:14711", "evidence": [ { "id": "14711", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14711" } ], "weight": 0.0 } ], "biological_process": [ { "name": "male courtship behavior", "id": "GO:0008049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008049", "evidence": [ { "database": "UniProtKB", "id": "Q24210", "url": "https://www.uniprot.org/uniprotkb/Q24210" } ], "pmid": "" }, { "name": "synaptic vesicle targeting", "id": "GO:0016080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016080", "evidence": [ { "database": "UniProtKB", "id": "Q24210", "url": "https://www.uniprot.org/uniprotkb/Q24210" } ], "pmid": "" }, { "name": "positive regulation of synaptic vesicle endocytosis", "id": "GO:1900244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900244", "evidence": [ { "database": "UniProtKB", "id": "Q24210", "url": "https://www.uniprot.org/uniprotkb/Q24210" } ], "pmid": "" }, { "name": "regulation of terminal button organization", "id": "GO:2000331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000331", "evidence": [ { "database": "UniProtKB", "id": "Q24210", "url": "https://www.uniprot.org/uniprotkb/Q24210" } ], "pmid": "" }, { "name": "neuromuscular synaptic transmission", "id": "GO:0007274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007274", "evidence": [ { "database": "UniProtKB", "id": "Q24210", "url": "https://www.uniprot.org/uniprotkb/Q24210" } ], "pmid": "" }, { "name": "adult locomotory behavior", "id": "GO:0008344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008344", "evidence": [ { "database": "UniProtKB", "id": "Q24210", "url": "https://www.uniprot.org/uniprotkb/Q24210" } ], "pmid": "" }, { "name": "regulation of locomotion", "id": "GO:0040012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040012", "evidence": [ { "database": "UniProtKB", "id": "Q24210", "url": "https://www.uniprot.org/uniprotkb/Q24210" } ], "pmid": "" }, { "name": "behavioral response to ethanol", "id": "GO:0048149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048149", "evidence": [ { "database": "UniProtKB", "id": "Q24210", "url": "https://www.uniprot.org/uniprotkb/Q24210" } ], "pmid": "" }, { "name": "regulation of neurotransmitter secretion", "id": "GO:0046928", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046928", "evidence": [ { "database": "UniProtKB", "id": "Q24210", "url": "https://www.uniprot.org/uniprotkb/Q24210" } ], "pmid": "" }, { "name": "adult walking behavior", "id": "GO:0007628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007628", "evidence": [ { "database": "UniProtKB", "id": "Q24210", "url": "https://www.uniprot.org/uniprotkb/Q24210" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q24210", "url": "https://www.uniprot.org/uniprotkb/Q24210" } ], "pmid": "" }, { "name": "long-term memory", "id": "GO:0007616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007616", "evidence": [ { "database": "UniProtKB", "id": "Q24210", "url": "https://www.uniprot.org/uniprotkb/Q24210" } ], "pmid": "" }, { "name": "neurotransmitter secretion", "id": "GO:0007269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007269", "evidence": [ { "database": "UniProtKB", "id": "Q24210", "url": "https://www.uniprot.org/uniprotkb/Q24210" } ], "pmid": "" }, { "name": "locomotion", "id": "GO:0040011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040011", "evidence": [ { "database": "UniProtKB", "id": "Q24210", "url": "https://www.uniprot.org/uniprotkb/Q24210" } ], "pmid": "" }, { "name": "synaptic vesicle endocytosis", "id": "GO:0048488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048488", "evidence": [ { "database": "UniProtKB", "id": "Q24210", "url": "https://www.uniprot.org/uniprotkb/Q24210" } ], "pmid": "" }, { "name": "synaptic vesicle docking", "id": "GO:0016081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016081", "evidence": [ { "database": "UniProtKB", "id": "Q24210", "url": "https://www.uniprot.org/uniprotkb/Q24210" } ], "pmid": "" }, { "name": "regulation of synaptic assembly at neuromuscular junction", "id": "GO:0008582", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008582", "evidence": [ { "database": "UniProtKB", "id": "Q24210", "url": "https://www.uniprot.org/uniprotkb/Q24210" } ], "pmid": "" }, { "name": "border follicle cell migration", "id": "GO:0007298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007298", "evidence": [ { "database": "UniProtKB", "id": "Q24210", "url": "https://www.uniprot.org/uniprotkb/Q24210" } ], "pmid": "" }, { "name": "anesthesia-resistant memory", "id": "GO:0007615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007615", "evidence": [ { "database": "UniProtKB", "id": "Q24210", "url": "https://www.uniprot.org/uniprotkb/Q24210" } ], "pmid": "" }, { "name": "medium-term memory", "id": "GO:0072375", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072375", "evidence": [ { "database": "UniProtKB", "id": "Q24210", "url": "https://www.uniprot.org/uniprotkb/Q24210" } ], "pmid": "" }, { "name": "regulation of neuromuscular synaptic transmission", "id": "GO:1900073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900073", "evidence": [ { "database": "UniProtKB", "id": "Q24210", "url": "https://www.uniprot.org/uniprotkb/Q24210" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q24210", "url": "https://www.uniprot.org/uniprotkb/Q24210" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q24210", "url": "https://www.uniprot.org/uniprotkb/Q24210" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q24210", "url": "https://www.uniprot.org/uniprotkb/Q24210" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q24210", "url": "https://www.uniprot.org/uniprotkb/Q24210" } ], "pmid": "" }, { "name": "calcium/calmodulin-dependent protein kinase activity", "id": "GO:0004683", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004683", "evidence": [ { "database": "UniProtKB", "id": "Q24210", "url": "https://www.uniprot.org/uniprotkb/Q24210" } ], "pmid": "" }, { "name": "neurexin family protein binding", "id": "GO:0042043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042043", "evidence": [ { "database": "UniProtKB", "id": "Q24210", "url": "https://www.uniprot.org/uniprotkb/Q24210" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q24210", "url": "https://www.uniprot.org/uniprotkb/Q24210" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q24210", "url": "https://www.uniprot.org/uniprotkb/Q24210" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "Q24210", "url": "https://www.uniprot.org/uniprotkb/Q24210" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "Q24210", "url": "https://www.uniprot.org/uniprotkb/Q24210" } ], "pmid": "" }, { "name": "synaptic membrane", "id": "GO:0097060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097060", "evidence": [ { "database": "UniProtKB", "id": "Q24210", "url": "https://www.uniprot.org/uniprotkb/Q24210" } ], "pmid": "" }, { "name": "type I terminal bouton", "id": "GO:0061174", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061174", "evidence": [ { "database": "UniProtKB", "id": "Q24210", "url": "https://www.uniprot.org/uniprotkb/Q24210" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q24210-3", "start_pos": "292", "end_pos": "292", "site_lbl": "Thr292", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q24210", "url": "https://www.uniprot.org/uniprotkb/Q24210" } ] } ] } ], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q24239-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q24239", "url": "https://www.uniprot.org/uniprotkb/Q24239" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 354, "chemical_mass": 40306.0, "gene_names": "angel;Angel;CG12273;CG1227;DmAngel;Dmel\\CG12273;angel", "protein_name": "Protein angel", "disease": [], "cellular_component": [ { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q24239", "url": "https://www.uniprot.org/uniprotkb/Q24239" } ], "pmid": "" } ], "molecular_function": [ { "name": "mRNA 3'-UTR binding", "id": "GO:0003730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003730", "evidence": [ { "database": "UniProtKB", "id": "Q24239", "url": "https://www.uniprot.org/uniprotkb/Q24239" } ], "pmid": "" }, { "name": "RNA 2'-phosphatase activity", "id": "GO:0160273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160273", "evidence": [ { "database": "UniProtKB", "id": "Q24239", "url": "https://www.uniprot.org/uniprotkb/Q24239" } ], "pmid": "" }, { "name": "RNA 2',3'-cyclic phosphatase activity", "id": "GO:0160272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160272", "evidence": [ { "database": "UniProtKB", "id": "Q24239", "url": "https://www.uniprot.org/uniprotkb/Q24239" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial mRNA 3'-end processing", "id": "GO:0090616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090616", "evidence": [ { "database": "UniProtKB", "id": "Q24239", "url": "https://www.uniprot.org/uniprotkb/Q24239" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q24266-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q24266", "url": "https://www.uniprot.org/uniprotkb/Q24266" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 644, "chemical_mass": 68581.0, "gene_names": "btd;BTD;Btd;CG12653;Dmel\\CG12653;btd", "protein_name": "Transcription factor btd", "disease": [], "biological_process": [ { "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": "Q24266", "url": "https://www.uniprot.org/uniprotkb/Q24266" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q24266", "url": "https://www.uniprot.org/uniprotkb/Q24266" } ], "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": "Q24266", "url": "https://www.uniprot.org/uniprotkb/Q24266" } ], "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": "Q24266", "url": "https://www.uniprot.org/uniprotkb/Q24266" } ], "pmid": "" }, { "name": "regulation of neuron differentiation", "id": "GO:0045664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045664", "evidence": [ { "database": "UniProtKB", "id": "Q24266", "url": "https://www.uniprot.org/uniprotkb/Q24266" } ], "pmid": "" }, { "name": "regulation of neuroblast proliferation", "id": "GO:1902692", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902692", "evidence": [ { "database": "UniProtKB", "id": "Q24266", "url": "https://www.uniprot.org/uniprotkb/Q24266" } ], "pmid": "" }, { "name": "cephalic furrow formation", "id": "GO:0007376", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007376", "evidence": [ { "database": "UniProtKB", "id": "Q24266", "url": "https://www.uniprot.org/uniprotkb/Q24266" } ], "pmid": "" }, { "name": "imaginal disc-derived leg morphogenesis", "id": "GO:0007480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007480", "evidence": [ { "database": "UniProtKB", "id": "Q24266", "url": "https://www.uniprot.org/uniprotkb/Q24266" } ], "pmid": "" }, { "name": "anterior head 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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:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:9360", "name": "intrinsic asthma", "description": "A chronic asthma that is triggered by factors not attributable to allergies.", "url": "https://disease-ontology.org/term/DOID:9360", "evidence": [ { "id": "9360", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9360" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "filopodium", "id": "GO:0030175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030175", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "catenin complex", "id": "GO:0016342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016342", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "apical junction complex", "id": "GO:0043296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043296", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "spot adherens junction", "id": "GO:0005914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005914", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" } ], "biological_process": [ { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "epithelial cell differentiation", "id": "GO:0030855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030855", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "cell morphogenesis", "id": "GO:0000902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000902", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "homophilic cell adhesion via plasma membrane adhesion molecules", "id": "GO:0007156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007156", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "germ cell development", "id": "GO:0007281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007281", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "positive regulation of receptor signaling pathway via JAK-STAT", "id": "GO:0046427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046427", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "morphogenesis of a polarized epithelium", "id": "GO:0001738", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001738", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "segment specification", "id": "GO:0007379", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007379", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules", "id": "GO:0016339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016339", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "asymmetric cell division", "id": "GO:0008356", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008356", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "somatic stem cell population maintenance", "id": "GO:0035019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035019", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "outflow tract morphogenesis", "id": "GO:0003151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003151", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "germ cell migration", "id": "GO:0008354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008354", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "gonadal mesoderm development", "id": "GO:0007506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007506", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "zonula adherens assembly", "id": "GO:0045186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045186", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "salivary gland morphogenesis", "id": "GO:0007435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007435", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "cell-cell adhesion mediated by cadherin", "id": "GO:0044331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044331", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "gonad development", "id": "GO:0008406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008406", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "determination of digestive tract left/right asymmetry", "id": "GO:0071907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071907", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "cell competition in a multicellular organism", "id": "GO:0035212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035212", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "gonad morphogenesis", "id": "GO:0035262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035262", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "apical protein localization", "id": "GO:0045176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045176", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "cell projection assembly", "id": "GO:0030031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030031", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "compound eye morphogenesis", "id": "GO:0001745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001745", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "insect visual primordium development", "id": "GO:0001748", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001748", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "border follicle cell migration", "id": "GO:0007298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007298", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "ventral furrow formation", "id": "GO:0007370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007370", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "open tracheal system development", "id": "GO:0007424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007424", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "head involution", "id": "GO:0008258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008258", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "gastrulation involving germ band extension", "id": "GO:0010004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010004", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "ommatidial rotation", "id": "GO:0016318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016318", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "oocyte localization involved in germarium-derived egg chamber formation", "id": "GO:0030720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030720", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "hemocyte migration", "id": "GO:0035099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035099", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "branch fusion, open tracheal system", "id": "GO:0035147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035147", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "maintenance of epithelial integrity, open tracheal system", "id": "GO:0035160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035160", "evidence": [ { "database": "UniProtKB", "id": "Q24298", "url": "https://www.uniprot.org/uniprotkb/Q24298" } ], "pmid": "" }, { "name": "female germ-line stem cell 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"https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "Q6WV19", "url": "https://www.uniprot.org/uniprotkb/Q6WV19" } ], "pmid": "" }, { "name": "polypeptide N-acetylgalactosaminyltransferase activity", "id": "GO:0004653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004653", "evidence": [ { "database": "UniProtKB", "id": "Q6WV19", "url": "https://www.uniprot.org/uniprotkb/Q6WV19" } ], "pmid": "" } ], "biological_process": [ { "name": "protein O-linked glycosylation", "id": "GO:0006493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006493", "evidence": [ { "database": "UniProtKB", "id": "Q6WV19", "url": "https://www.uniprot.org/uniprotkb/Q6WV19" } ], "pmid": "" }, { "name": "protein O-linked glycosylation via N-acetyl-galactosamine", "id": "GO:0016266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016266", "evidence": [ { "database": "UniProtKB", "id": "Q6WV19", "url": "https://www.uniprot.org/uniprotkb/Q6WV19" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q7JRP4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7JRP4", "url": "https://www.uniprot.org/uniprotkb/Q7JRP4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 323, "chemical_mass": 36822.0, "gene_names": "CG18335;Dmel\\CG18335", "protein_name": "CIMIP2 protein CG18335", "disease": [], "cellular_component": [ { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "Q7JRP4", "url": "https://www.uniprot.org/uniprotkb/Q7JRP4" } ], "pmid": "" }, { "name": "axoneme", "id": "GO:0005930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005930", "evidence": [ { "database": "UniProtKB", "id": "Q7JRP4", "url": "https://www.uniprot.org/uniprotkb/Q7JRP4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q7JVL3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7JVL3", "url": "https://www.uniprot.org/uniprotkb/Q7JVL3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 330, "chemical_mass": 40088.0, "gene_names": "Prp38;CG30342;CG8054;Dmel\\CG30342;Prp38;dprp38;prp38", "protein_name": "Pre-mRNA-splicing factor 38", "disease": [], "biological_process": [ { "name": "regulation of G2/M transition of mitotic cell cycle", "id": "GO:0010389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010389", "evidence": [ { "database": "UniProtKB", "id": "Q7JVL3", "url": "https://www.uniprot.org/uniprotkb/Q7JVL3" } ], "pmid": "" }, { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "Q7JVL3", "url": "https://www.uniprot.org/uniprotkb/Q7JVL3" } ], "pmid": "" } ], "cellular_component": [ { "name": "catalytic step 2 spliceosome", "id": "GO:0071013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071013", "evidence": [ { "database": "UniProtKB", "id": "Q7JVL3", "url": "https://www.uniprot.org/uniprotkb/Q7JVL3" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q7JVL3", "url": "https://www.uniprot.org/uniprotkb/Q7JVL3" } ], "pmid": "" }, { "name": "precatalytic spliceosome", "id": "GO:0071011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071011", "evidence": [ { "database": "UniProtKB", "id": "Q7JVL3", "url": "https://www.uniprot.org/uniprotkb/Q7JVL3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q7JVR7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7JVR7", "url": "https://www.uniprot.org/uniprotkb/Q7JVR7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 67, "chemical_mass": 7581.0, "gene_names": "BcDNA:GH04581;CG17059;Dmel\\CG17059", "protein_name": "COP9 signalosome complex subunit 9 homolog", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q7JVR7", "url": "https://www.uniprot.org/uniprotkb/Q7JVR7" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q7JVR7", "url": "https://www.uniprot.org/uniprotkb/Q7JVR7" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q7JVR7", "url": "https://www.uniprot.org/uniprotkb/Q7JVR7" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q7JVR7", "url": "https://www.uniprot.org/uniprotkb/Q7JVR7" } ], "pmid": "" }, { "name": "COP9 signalosome", "id": "GO:0008180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008180", "evidence": [ { "database": "UniProtKB", "id": "Q7JVR7", "url": "https://www.uniprot.org/uniprotkb/Q7JVR7" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "Q7JVR7", "url": "https://www.uniprot.org/uniprotkb/Q7JVR7" } ], "pmid": "" }, { "name": "cellular response to UV", "id": "GO:0034644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034644", "evidence": [ { "database": "UniProtKB", "id": "Q7JVR7", "url": "https://www.uniprot.org/uniprotkb/Q7JVR7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" } ]