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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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"https://www.ebi.ac.uk/QuickGO/term/GO:0090657", "evidence": [ { "database": "UniProtKB", "id": "Q9W484", "url": "https://www.uniprot.org/uniprotkb/Q9W484" } ], "pmid": "" }, { "name": "negative regulation of t-circle formation", "id": "GO:1904430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904430", "evidence": [ { "database": "UniProtKB", "id": "Q9W484", "url": "https://www.uniprot.org/uniprotkb/Q9W484" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "Q9W484", "url": "https://www.uniprot.org/uniprotkb/Q9W484" } ], "pmid": "" }, { "name": "DNA recombination", "id": "GO:0006310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006310", "evidence": [ { "database": "UniProtKB", "id": "Q9W484", "url": "https://www.uniprot.org/uniprotkb/Q9W484" } ], "pmid": "" }, { "name": "DNA replication", "id": "GO:0006260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006260", "evidence": [ { "database": "UniProtKB", "id": "Q9W484", "url": "https://www.uniprot.org/uniprotkb/Q9W484" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q9W484", "url": "https://www.uniprot.org/uniprotkb/Q9W484" } ], "pmid": "" }, { "name": "negative regulation of DNA recombination", "id": "GO:0045910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045910", "evidence": [ { "database": "UniProtKB", "id": "Q9W484", "url": "https://www.uniprot.org/uniprotkb/Q9W484" } ], "pmid": "" }, { "name": "male germ-line stem cell population maintenance", "id": "GO:0036098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036098", "evidence": [ { "database": "UniProtKB", "id": "Q9W484", "url": "https://www.uniprot.org/uniprotkb/Q9W484" } ], "pmid": "" }, { "name": "regulation of double-strand break repair via homologous recombination", "id": "GO:0010569", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010569", "evidence": [ { "database": "UniProtKB", "id": "Q9W484", "url": "https://www.uniprot.org/uniprotkb/Q9W484" } ], "pmid": "" }, { "name": "telomere maintenance", "id": "GO:0000723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000723", "evidence": [ { "database": "UniProtKB", "id": "Q9W484", "url": "https://www.uniprot.org/uniprotkb/Q9W484" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9W484", "url": "https://www.uniprot.org/uniprotkb/Q9W484" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q9W484", "url": "https://www.uniprot.org/uniprotkb/Q9W484" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9W484", "url": "https://www.uniprot.org/uniprotkb/Q9W484" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9W484", "url": "https://www.uniprot.org/uniprotkb/Q9W484" } ], "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": "Q9W484", "url": "https://www.uniprot.org/uniprotkb/Q9W484" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q9W484", "url": "https://www.uniprot.org/uniprotkb/Q9W484" } ], "pmid": "" }, { "name": "DNA polymerase binding", "id": "GO:0070182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070182", "evidence": [ { "database": "UniProtKB", "id": "Q9W484", "url": "https://www.uniprot.org/uniprotkb/Q9W484" } ], "pmid": "" }, { "name": "DNA helicase activity", "id": "GO:0003678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003678", "evidence": [ { "database": "UniProtKB", "id": "Q9W484", "url": "https://www.uniprot.org/uniprotkb/Q9W484" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9W484", "url": "https://www.uniprot.org/uniprotkb/Q9W484" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "Q9W484", "url": "https://www.uniprot.org/uniprotkb/Q9W484" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9W484-1", "start_pos": "874", "end_pos": "874", "site_lbl": "Thr874", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9W484", "url": "https://www.uniprot.org/uniprotkb/Q9W484" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q9W484", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9W484" } ] } ] } ], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q9W4S7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W4S7", "url": "https://www.uniprot.org/uniprotkb/Q9W4S7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 717, "chemical_mass": 79308.0, "gene_names": "Myc;CG10798;D-Myc;DMYc;DM;Diminutive;Dmel\\CG10798;Dmel_CG10798;Dmyc;Dm;EG:BACN5I9.1;MYC;Myc;anon-WO03040301.171;bHLHe57;c-MYC;c-Myc;c-myc;cMyc;d-myc;dMYC;dMyc1;dMyc;dm/dMyc;dm/myc;dmyc1;dmyc;dm;l(1)G0139;l(1)G0354;l(1)G0359;myc", "protein_name": "Myc proto-oncogene protein", "disease": [ { "disease_id": "DOID:0001816", "name": "angiosarcoma", "description": "A vascular cancer that derives_from the cells that line the walls of blood vessels or lymphatic vessels.", "url": "https://disease-ontology.org/term/DOID:0001816", "evidence": [ { "id": "0001816", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0001816" } ], "weight": 0.0 }, { "disease_id": "DOID:0060318", "name": "acute promyelocytic leukemia", "description": "An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17.", "url": "https://disease-ontology.org/term/DOID:0060318", "evidence": [ { "id": "0060318", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060318" } ], "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:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure.", "url": "https://disease-ontology.org/term/DOID:0080322", "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ], "weight": 0.0 }, { "disease_id": "DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3.", "url": "https://disease-ontology.org/term/DOID:0110858", "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ], "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:1040", "name": "chronic lymphocytic leukemia", "description": "A lymphocytic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood.", "url": "https://disease-ontology.org/term/DOID:1040", "evidence": [ { "id": "1040", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1040" } ], "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: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: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: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:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain.", "url": "https://disease-ontology.org/term/DOID:1319", "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ], "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: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": "https://disease-ontology.org/term/DOID:13543", "evidence": [ { "id": "13543", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13543" } ], "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: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: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:3213", "name": "demyelinating disease", "description": "A central nervous system disease that is characterized by damage to the myelin sheath present around nerve axons.", "url": "https://disease-ontology.org/term/DOID:3213", "evidence": [ { "id": "3213", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3213" } ], "weight": 0.0 }, { "disease_id": "DOID:3672", "name": "rhabdoid cancer", "description": "A childhood kidney neoplasm that is located_in the kidney, liver, muscle, heart, lung, soft tissues, skin and central nervous system.", "url": "https://disease-ontology.org/term/DOID:3672", "evidence": [ { "id": "3672", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3672" } ], "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:3969", "name": "papillary thyroid carcinoma", "description": "A differentiated thyroid gland carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer and arises from the follicular cells of the thyroid gland.", "url": "https://disease-ontology.org/term/DOID:3969", "evidence": [ { "id": "3969", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3969" } ], "weight": 0.0 }, { "disease_id": "DOID:4247", "name": "coronary restenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:4247", "evidence": [ { "id": "4247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4247" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4467", "name": "clear cell renal cell carcinoma", "description": "A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope.", "url": "https://disease-ontology.org/term/DOID:4467", "evidence": [ { "id": "4467", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4467" } ], "weight": 0.0 }, { "disease_id": "DOID:4905", "name": "pancreatic carcinoma", "description": "A pancreas cancer that derives_from epithelial cells located_in the exocrine pancreas.", "url": "https://disease-ontology.org/term/DOID:4905", "evidence": [ { "id": "4905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4905" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5394", "name": "prolactinoma", "description": "", "url": "https://disease-ontology.org/term/DOID:5394", "evidence": [ { "id": "5394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5394" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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": "https://www.alliancegenome.org/disease/DOID:8584" } ], "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: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 }, { "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 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"evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "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: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:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic 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"cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VT90", "url": "https://www.uniprot.org/uniprotkb/Q9VT90" } ], "pmid": "" }, { "name": "dendrite membrane", "id": "GO:0032590", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032590", "evidence": [ { "database": "UniProtKB", "id": "Q9VT90", "url": "https://www.uniprot.org/uniprotkb/Q9VT90" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q9VT90", "url": "https://www.uniprot.org/uniprotkb/Q9VT90" } ], "pmid": "" }, { "name": "detection of chemical stimulus involved in sensory perception of smell", "id": "GO:0050911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050911", "evidence": [ { "database": "UniProtKB", "id": "Q9VT90", "url": 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"taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VTE2", "url": "https://www.uniprot.org/uniprotkb/Q9VTE2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 962, "chemical_mass": 107625.0, "gene_names": "SuUR;CG7869;Dmel\\CG7869;Dromel_CG7869_FBtr0076203_suur_mORF;SU(UR);SUUR;Su(UR)ES;Su(UR);SuUR;su(UR)ES", "protein_name": "Protein suppressor of underreplication", "disease": [], "biological_process": [ { "name": "positive regulation of DNA endoreduplication", "id": "GO:0032877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032877", "evidence": [ { "database": "UniProtKB", "id": "Q9VTE2", "url": "https://www.uniprot.org/uniprotkb/Q9VTE2" } ], "pmid": "" }, { "name": "negative regulation of DNA-templated DNA replication", "id": "GO:2000104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000104", "evidence": [ { "database": "UniProtKB", "id": "Q9VTE2", "url": 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"" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q9VTY6", "url": "https://www.uniprot.org/uniprotkb/Q9VTY6" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9VTY6", "url": "https://www.uniprot.org/uniprotkb/Q9VTY6" } ], "pmid": "" }, { "name": "ubiquitin conjugating enzyme activity", "id": "GO:0061631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061631", "evidence": [ { "database": "UniProtKB", "id": "Q9VTY6", "url": "https://www.uniprot.org/uniprotkb/Q9VTY6" } ], "pmid": "" } ], "biological_process": [ { "name": "exit from mitosis", "id": "GO:0010458", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010458", "evidence": [ { "database": "UniProtKB", "id": "Q9VTY6", "url": "https://www.uniprot.org/uniprotkb/Q9VTY6" } ], "pmid": "" }, { "name": "anaphase-promoting complex-dependent catabolic process", "id": "GO:0031145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031145", "evidence": [ { "database": "UniProtKB", "id": "Q9VTY6", "url": "https://www.uniprot.org/uniprotkb/Q9VTY6" } ], "pmid": "" }, { "name": "positive regulation of protein catabolic process", "id": "GO:0045732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045732", "evidence": [ { "database": "UniProtKB", "id": "Q9VTY6", "url": "https://www.uniprot.org/uniprotkb/Q9VTY6" } ], "pmid": "" }, { "name": "positive regulation of mitotic metaphase/anaphase transition", "id": "GO:0045842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045842", "evidence": [ { "database": "UniProtKB", "id": "Q9VTY6", "url": "https://www.uniprot.org/uniprotkb/Q9VTY6" } ], "pmid": "" }, { "name": "protein polyubiquitination", "id": "GO:0000209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000209", "evidence": [ { "database": "UniProtKB", "id": "Q9VTY6", "url": 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"SmD1;BcDNA:RE39488;CG10753;D1-Sm;Dmel\\CG10753;SmD1;dD1;l(2)SH3 003;l(3)SH003;smd1;snRNP-69D;snRNP69D;snRNP", "protein_name": "Probable small nuclear ribonucleoprotein Sm D1", "disease": [ { "disease_id": "DOID:10952", "name": "nephritis", "description": "A kidney disease that is characterized by an inflammation of the kidneys.", "url": "https://disease-ontology.org/term/DOID:10952", "evidence": [ { "id": "10952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10952" } ], "weight": 0.0 }, { "disease_id": "DOID:576", "name": "proteinuria", "description": "A kidney disease that is characterized by the presence of excess proteins in the urine.", "url": "https://disease-ontology.org/term/DOID:576", "evidence": [ { "id": "576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:576" } ], "weight": 0.0 }, { "disease_id": "DOID:65", "name": "connective tissue disease", "description": "A musculoskeletal system disease that affects tissues such as 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], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9VVR6", "url": "https://www.uniprot.org/uniprotkb/Q9VVR6" } ], "pmid": "" }, { "name": "mRNA export from nucleus", "id": "GO:0006406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006406", "evidence": [ { "database": "UniProtKB", "id": "Q9VVR6", "url": "https://www.uniprot.org/uniprotkb/Q9VVR6" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q9VVR6", "url": "https://www.uniprot.org/uniprotkb/Q9VVR6" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q9VVR6", "url": "https://www.uniprot.org/uniprotkb/Q9VVR6" } ], "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": "Q9VVR6", "url": "https://www.uniprot.org/uniprotkb/Q9VVR6" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "Q9VVR6", "url": "https://www.uniprot.org/uniprotkb/Q9VVR6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VVR6-1", "start_pos": "172", "end_pos": "172", "site_lbl": "Ser172", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9VVR6", "url": "https://www.uniprot.org/uniprotkb/Q9VVR6" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q9VVR6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9VVR6" } ] } ] } ], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q9VVW3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VVW3", "url": "https://www.uniprot.org/uniprotkb/Q9VVW3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 327, "chemical_mass": 36496.0, "gene_names": "Sfxn2;CG6812;Dmel\\CG6812;SFXN3;Sfxn2", "protein_name": "Sideroflexin-2", "disease": [], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9VVW3", "url": "https://www.uniprot.org/uniprotkb/Q9VVW3" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q9VVW3", "url": "https://www.uniprot.org/uniprotkb/Q9VVW3" } ], "pmid": "" } ], "molecular_function": [ { "name": "transmembrane transporter activity", "id": "GO:0022857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "Q9VVW3", "url": "https://www.uniprot.org/uniprotkb/Q9VVW3" } ], "pmid": "" }, { "name": "L-serine transmembrane transporter activity", "id": "GO:0015194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015194", "evidence": [ { "database": "UniProtKB", "id": "Q9VVW3", "url": "https://www.uniprot.org/uniprotkb/Q9VVW3" } ], "pmid": "" }, { "name": "monoatomic ion transmembrane transporter activity", "id": "GO:0015075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015075", "evidence": [ { "database": "UniProtKB", "id": "Q9VVW3", "url": "https://www.uniprot.org/uniprotkb/Q9VVW3" } ], "pmid": "" } ], "biological_process": [ { "name": "one-carbon metabolic process", "id": 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], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 245, "chemical_mass": 28751.0, "gene_names": "Gem2;CG10419;Dmel\\CG10419;Gem2;dGem2", "protein_name": "Gem-associated protein 2", "disease": [ { "disease_id": "DOID:12377", "name": "spinal muscular atrophy", "description": "A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy.", "url": "https://disease-ontology.org/term/DOID:12377", "evidence": [ { "id": "12377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12377" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VVX0", "url": "https://www.uniprot.org/uniprotkb/Q9VVX0" } ], "pmid": "" }, { "name": "spliceosomal complex", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0022618", "evidence": [ { "database": "UniProtKB", "id": "Q9VVX0", "url": "https://www.uniprot.org/uniprotkb/Q9VVX0" } ], "pmid": "" }, { "name": "flight behavior", "id": "GO:0007629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007629", "evidence": [ { "database": "UniProtKB", "id": "Q9VVX0", "url": "https://www.uniprot.org/uniprotkb/Q9VVX0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q9VW09-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VW09", "url": "https://www.uniprot.org/uniprotkb/Q9VW09" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1747, "chemical_mass": 198640.0, "gene_names": "Ltn1;CG32210;CG9268;CG9274;Dmel\\CG32210;Ltn1;l(3)76BDr", "protein_name": "E3 ubiquitin-protein ligase listerin", "disease": [], "biological_process": [ { "name": "rescue of stalled ribosome", "id": "GO:0072344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072344", "evidence": [ { "database": "UniProtKB", "id": "Q9VW09", "url": "https://www.uniprot.org/uniprotkb/Q9VW09" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q9VW09", "url": "https://www.uniprot.org/uniprotkb/Q9VW09" } ], "pmid": "" }, { "name": "ribosome-associated ubiquitin-dependent protein catabolic process", "id": "GO:1990116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990116", "evidence": [ { "database": "UniProtKB", "id": "Q9VW09", "url": "https://www.uniprot.org/uniprotkb/Q9VW09" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9VW09", "url": 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"https://www.uniprot.org/uniprotkb/Q9VW09" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VW09-1", "start_pos": "566", "end_pos": "566", "site_lbl": "Ser566", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9VW09", "url": "https://www.uniprot.org/uniprotkb/Q9VW09" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q9VW09", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9VW09" } ] } ] } ], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q9VW26-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VW26", "url": "https://www.uniprot.org/uniprotkb/Q9VW26" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster 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"id": "Q9VW26", "url": "https://www.uniprot.org/uniprotkb/Q9VW26" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9VW26", "url": "https://www.uniprot.org/uniprotkb/Q9VW26" } ], "pmid": "" }, { "name": "ornithine aminotransferase activity", "id": "GO:0004587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004587", "evidence": [ { "database": "UniProtKB", "id": "Q9VW26", "url": "https://www.uniprot.org/uniprotkb/Q9VW26" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q9VW58-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VW58", "url": "https://www.uniprot.org/uniprotkb/Q9VW58" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], 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"batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q9VW87-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VW87", "url": "https://www.uniprot.org/uniprotkb/Q9VW87" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 162, "chemical_mass": 17637.0, "gene_names": "Ssk;CG6981;CT21613;Dmel\\CG6981;Ssk;ssk", "protein_name": "Protein snakeskin", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VW87", "url": "https://www.uniprot.org/uniprotkb/Q9VW87" } ], "pmid": "" }, { "name": "apicolateral plasma membrane", "id": "GO:0016327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016327", "evidence": [ { "database": "UniProtKB", "id": "Q9VW87", "url": "https://www.uniprot.org/uniprotkb/Q9VW87" } ], "pmid": "" }, { "name": "smooth septate junction", "id": "GO:0005920", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005920", "evidence": [ { "database": "UniProtKB", "id": "Q9VW87", "url": "https://www.uniprot.org/uniprotkb/Q9VW87" } ], "pmid": "" } ], "biological_process": [ { "name": "anterior midgut development", "id": "GO:0007496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007496", "evidence": [ { "database": "UniProtKB", "id": "Q9VW87", "url": "https://www.uniprot.org/uniprotkb/Q9VW87" } ], "pmid": "" }, { "name": "septate junction assembly", "id": "GO:0019991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019991", "evidence": [ { "database": "UniProtKB", "id": "Q9VW87", "url": "https://www.uniprot.org/uniprotkb/Q9VW87" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q9VWD9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VWD9", "url": "https://www.uniprot.org/uniprotkb/Q9VWD9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 547, "chemical_mass": 58836.0, "gene_names": "Ubqn;BEST:LD26923;CG14224;Chap;DSK2;Dmel\\CG14224;Dmel_CG14224;Dsk2;UBQLN homolog;UBQLN1;UBQLN;Ubqn;anon-18DEa;clone 5.42;dUbqln;dUbqn;dsk2;ubqn", "protein_name": "Ubiquilin-like protein", "disease": [ { "disease_id": "DOID:0060206", "name": "amyotrophic lateral sclerosis type 15", "description": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the UBQLN2 gene on chromosome X.", "url": "https://disease-ontology.org/term/DOID:0060206", "evidence": [ { "id": "0060206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060206" } ], "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: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:9255", "name": "frontotemporal dementia", "description": "A dementia characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language.", "url": "https://disease-ontology.org/term/DOID:9255", "evidence": [ { "id": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0042982", "evidence": [ { "database": "UniProtKB", "id": "Q9VWD9", "url": "https://www.uniprot.org/uniprotkb/Q9VWD9" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "Q9VWD9", "url": "https://www.uniprot.org/uniprotkb/Q9VWD9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q9VWI0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VWI0", "url": "https://www.uniprot.org/uniprotkb/Q9VWI0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 183, "chemical_mass": 20681.0, "gene_names": "ND-18;CG12203;Dmel\\CG12203;IP11020p;ND-18;NDUFS4;NUYM;Q9VWI0;dNDUFS4", "protein_name": 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"id": "GO:0035330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035330", "evidence": [ { "database": "UniProtKB", "id": "Q9W2E7", "url": "https://www.uniprot.org/uniprotkb/Q9W2E7" } ], "pmid": "" }, { "name": "mitotic cell cycle", "id": "GO:0000278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000278", "evidence": [ { "database": "UniProtKB", "id": "Q9W2E7", "url": "https://www.uniprot.org/uniprotkb/Q9W2E7" } ], "pmid": "" }, { "name": "nucleocytoplasmic transport", "id": "GO:0006913", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006913", "evidence": [ { "database": "UniProtKB", "id": "Q9W2E7", "url": "https://www.uniprot.org/uniprotkb/Q9W2E7" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q9W2E7", "url": "https://www.uniprot.org/uniprotkb/Q9W2E7" } ], "pmid": "" }, { "name": "regulation of autophagy", "id": "GO:0010506", "url": 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], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9W2E7", "url": "https://www.uniprot.org/uniprotkb/Q9W2E7" } ], "pmid": "" }, { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "Q9W2E7", "url": "https://www.uniprot.org/uniprotkb/Q9W2E7" } ], "pmid": "" }, { "name": "nuclear pore", "id": "GO:0005643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005643", "evidence": [ { "database": "UniProtKB", "id": "Q9W2E7", "url": "https://www.uniprot.org/uniprotkb/Q9W2E7" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9W2E7", "url": "https://www.uniprot.org/uniprotkb/Q9W2E7" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9W2E7", "url": "https://www.uniprot.org/uniprotkb/Q9W2E7" } ], "pmid": "" }, { "name": "sperm flagellum", "id": "GO:0036126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036126", "evidence": [ { "database": "UniProtKB", "id": "Q9W2E7", "url": "https://www.uniprot.org/uniprotkb/Q9W2E7" } ], "pmid": "" }, { "name": "cell periphery", "id": "GO:0071944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071944", "evidence": [ { "database": "UniProtKB", "id": "Q9W2E7", "url": "https://www.uniprot.org/uniprotkb/Q9W2E7" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "Q9W2E7", "url": "https://www.uniprot.org/uniprotkb/Q9W2E7" } ], "pmid": "" }, { "name": "Nebenkern", "id": "GO:0016006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016006", "evidence": [ { "database": 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34037.0, "gene_names": "RpL5;CG17489;Dmel\\CG17489;Dmel_CG17489;E-2d;L18;L5;M(2)40B;RPL5;Rp L5;RpL5;Rpl5;dRPL5;yip6", "protein_name": "Large ribosomal subunit protein uL18", "disease": [ { "disease_id": "DOID:0060036", "name": "intrinsic cardiomyopathy", "description": "A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause.", "url": "https://disease-ontology.org/term/DOID:0060036", "evidence": [ { "id": "0060036", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060036" } ], "weight": 0.0 }, { "disease_id": "DOID:0111879", "name": "Diamond-Blackfan anemia 6", "description": "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL5 gene on chromosome 1p22.1.", "url": "https://disease-ontology.org/term/DOID:0111879", "evidence": [ { "id": "0111879", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111879" } ], "weight": 0.0 }, { 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placental abruption.", "url": "https://disease-ontology.org/term/DOID:13129", "evidence": [ { "id": "13129", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13129" } ], "weight": 0.0 }, { "disease_id": "DOID:13374", "name": "fibrodysplasia ossificans progressiva", "description": "A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene.", "url": "https://disease-ontology.org/term/DOID:13374", "evidence": [ { "id": "13374", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13374" } ], "weight": 0.0 }, { "disease_id": "DOID: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 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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:1405", "name": "primary angle-closure glaucoma", "description": "An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component.", "url": "https://disease-ontology.org/term/DOID:1405", "evidence": [ { "id": "1405", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1405" } ], "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: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: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 } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "pmid": "" }, { "name": "transmembrane receptor protein serine/threonine kinase activity", "id": "GO:0004675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004675", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "pmid": "" }, { "name": "transforming growth factor beta receptor activity, type I", "id": "GO:0005025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005025", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "pmid": "" }, { "name": "SMAD binding", "id": "GO:0046332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046332", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "pmid": "" }, { "name": "BMP receptor activity", "id": "GO:0098821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098821", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "pmid": "" }, { "name": "I-SMAD binding", "id": "GO:0070411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070411", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "pmid": "" }, { "name": "BMP binding", "id": "GO:0036122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036122", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "pmid": "" }, { "name": "BMP receptor complex", "id": "GO:0070724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070724", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "pmid": "" } ], "biological_process": [ { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "pmid": "" }, { "name": "defense response to Gram-negative bacterium", "id": "GO:0050829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050829", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "pmid": "" }, { "name": "cellular response to growth factor stimulus", "id": "GO:0071363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071363", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "pmid": "" }, { "name": "BMP signaling pathway", "id": "GO:0030509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030509", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "pmid": "" }, { "name": "dorsal/ventral pattern formation", "id": "GO:0009953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009953", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "pmid": "" }, { "name": "positive regulation of synaptic assembly at neuromuscular junction", "id": "GO:0045887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045887", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "pmid": "" }, { "name": "negative regulation of innate immune response", "id": "GO:0045824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045824", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "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": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "pmid": "" }, { "name": "maternal determination of anterior/posterior axis, embryo", "id": "GO:0008358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008358", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification, imaginal disc", "id": "GO:0007448", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007448", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "pmid": "" }, { "name": "imaginal disc-derived wing morphogenesis", "id": "GO:0007476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007476", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "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": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "pmid": "" }, { "name": "wing disc pattern formation", "id": "GO:0035222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035222", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "pmid": "" }, { "name": "germ-line stem cell division", "id": "GO:0042078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042078", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7J3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "A0A0B4K7M8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7M8", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7M8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 120, "chemical_mass": 13161.0, "gene_names": "CG13169;Dmel\\CG43315;CG13169;CG43315;Dmel\\CG43315;Dmel_CG43315", "protein_name": "Seminal fluid protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "A0A0B4K7Q6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7Q6", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7Q6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 2008, "chemical_mass": 230672.0, "gene_names": "mbc;CED-5;CG10379;DOCK180;Dm MBC;Dmel\\CG10379;Dmel_CG10379;Dock180;MBC/DOCK180;MBC;Mbc;Su(rac)1;dock180;mbc", "protein_name": "", "disease": [ { "disease_id": "DOID:0111951", "name": "immunodeficiency 40", "description": "A combined T cell and B cell immunodeficiency characterized by reduced T-cell number and function, with variable defects in B-cell and NK-cell function resulting in onset in early childhood of invasive bacterial and viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK2 gene on chromosome 5q35.1.", "url": "https://disease-ontology.org/term/DOID:0111951", "evidence": [ { "id": "0111951", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111951" } ], "weight": 0.0 }, { "disease_id": "DOID:11198", "name": "DiGeorge syndrome", "description": "A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production.", "url": "https://disease-ontology.org/term/DOID:11198", "evidence": [ { "id": "11198", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11198" } ], "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 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7Q6", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7Q6" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7Q6", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7Q6" } ], "pmid": "" }, { "name": "extrinsic component of cytoplasmic side of plasma membrane", "id": "GO:0031234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031234", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7Q6", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7Q6" } ], "pmid": "" }, { "name": "ruffle", "id": "GO:0001726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001726", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7Q6", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7Q6" } ], "pmid": "" } ], "biological_process": [ { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7Q6", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7Q6" } ], "pmid": "" }, { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7Q6", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7Q6" } ], "pmid": "" }, { "name": "cell morphogenesis", "id": "GO:0000902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000902", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7Q6", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7Q6" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7Q6", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7Q6" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7Q6", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7Q6" } ], "pmid": "" }, { "name": "cytoskeleton organization", "id": "GO:0007010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7Q6", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7Q6" } ], "pmid": "" }, { "name": "small GTPase-mediated signal transduction", "id": "GO:0007264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007264", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7Q6", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7Q6" } ], "pmid": "" }, { "name": "myoblast fusion", "id": "GO:0007520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007520", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7Q6", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7Q6" } ], "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": "A0A0B4K7Q6", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7Q6" } ], "pmid": "" }, { "name": "positive regulation of Rac protein signal transduction", "id": "GO:0035022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035022", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7Q6", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7Q6" } ], "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": "A0A0B4K7Q6", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7Q6" } ], "pmid": "" }, { "name": "border follicle cell migration", "id": "GO:0007298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007298", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7Q6", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7Q6" } ], "pmid": "" }, { "name": "dorsal closure", "id": "GO:0007391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007391", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7Q6", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7Q6" } ], "pmid": "" }, { "name": "larval visceral muscle development", "id": "GO:0007523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007523", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7Q6", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7Q6" } ], "pmid": "" }, { "name": "imaginal disc fusion, thorax closure", "id": "GO:0046529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046529", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7Q6", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7Q6" } ], "pmid": "" }, { "name": "anterior Malpighian tubule development", "id": "GO:0061327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061327", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7Q6", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7Q6" } ], "pmid": "" }, { "name": "positive regulation of border follicle cell migration", "id": "GO:1903688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903688", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7Q6", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7Q6" } ], "pmid": "" }, { "name": "somatic muscle attachment to chitin-based cuticle", "id": "GO:0160175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160175", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7Q6", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7Q6" } ], "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": "A0A0B4K7Q6", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7Q6" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7Q6", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7Q6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A0A0B4K7Q6-1", "start_pos": "1995", "end_pos": "1995", "site_lbl": "Thr1995", "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": 1995, "start_aa": "Thr", "end_pos": 1995, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1995", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "A0A0B4K7V7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7V7", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7V7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 126, "chemical_mass": 14598.0, "gene_names": "Dmel\\CG43070;CG43070;Dmel\\CG43070;Dmel_CG43070;lincRNA.347", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "A0A0B4K7X6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7X6", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K7X6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 61, "chemical_mass": 6821.0, "gene_names": "chr2R_8318110_8318385.0;CG43204;Dmel\\CG43204;Dmel_CG43204;chr2R_8318110_8318385.0", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "A0A0B4LH44-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4LH44", "url": "https://www.uniprot.org/uniprotkb/A0A0B4LH44" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 234, "chemical_mass": 27408.0, "gene_names": "Dmel\\CG13488;CG13488;Dmel\\CG13488;Dmel_CG13488", "protein_name": "", "disease": [], 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"https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KGD0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KGD0" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KGD0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KGD0" } ], "pmid": "" }, { "name": "negative regulation of receptor signaling pathway via JAK-STAT", "id": "GO:0046426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046426", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KGD0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KGD0" } ], "pmid": "" }, { "name": "border follicle cell migration", "id": "GO:0007298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007298", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KGD0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KGD0" } ], "pmid": "" }, { "name": "negative regulation of oskar mRNA translation", "id": "GO:0007319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007319", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KGD0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KGD0" } ], "pmid": "" }, { "name": "open tracheal system development", "id": "GO:0007424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007424", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KGD0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KGD0" } ], "pmid": "" }, { "name": "epithelial cell migration, open tracheal system", "id": "GO:0007427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007427", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KGD0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KGD0" } ], "pmid": "" }, { "name": "posterior head segmentation", "id": "GO:0035289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035289", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KGD0", "url": 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"A0A0B4KI23", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KI23" } ], "pmid": "" } ], "biological_process": [ { "name": "detection of wounding", "id": "GO:0014822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014822", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KI23", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KI23" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "A0A0B4KI42-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KI42", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KI42" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 42, "chemical_mass": 4810.0, "gene_names": "Dmel\\CG43935;CG43935;Dmel\\CG43935;Dmel_CG43935", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "A0A0B4LEX3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4LEX3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4LEX3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 44, "chemical_mass": 4798.0, "gene_names": "Dmel\\CG44439;CG44439;Dmel\\CG44439;Dmel_CG44439;FBgn0265632;lincRNA.265", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "A0A0B4LEX9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4LEX9", "url": "https://www.uniprot.org/uniprotkb/A0A0B4LEX9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1376, "chemical_mass": 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hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves.", "url": "https://disease-ontology.org/term/DOID:0050534", "evidence": [ { "id": "0050534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050534" } ], "weight": 0.0 }, { "disease_id": "DOID:0110078", "name": "Leber congenital amaurosis 1", "description": "A Leber congenital amaurosis characterized by severe cone-rod dystrophy with photophobia, high hyperopia, and poor but stable vision with no visual improvement and that has_material_basis_in mutation in the GUCY2D gene on chromosome 17p13.", "url": "https://disease-ontology.org/term/DOID:0110078", "evidence": [ { "id": "0110078", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110078" } ], "weight": 0.0 }, { "disease_id": "DOID:0111011", "name": "cone-rod dystrophy 6", "description": "A 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} ], "pmid": "" } ], "biological_process": [ { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "A1Z9J3", "url": "https://www.uniprot.org/uniprotkb/A1Z9J3" } ], "pmid": "" }, { "name": "axon midline choice point recognition", "id": "GO:0016199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016199", "evidence": [ { "database": "UniProtKB", "id": "A1Z9J3", "url": "https://www.uniprot.org/uniprotkb/A1Z9J3" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "A1Z9J3", "url": "https://www.uniprot.org/uniprotkb/A1Z9J3" } ], "pmid": "" }, { "name": "regulation of axon extension", "id": "GO:0030516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030516", "evidence": [ { "database": "UniProtKB", "id": "A1Z9J3", "url": "https://www.uniprot.org/uniprotkb/A1Z9J3" } ], "pmid": "" }, { "name": "dendrite morphogenesis", "id": "GO:0048813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048813", "evidence": [ { "database": "UniProtKB", "id": "A1Z9J3", "url": "https://www.uniprot.org/uniprotkb/A1Z9J3" } ], "pmid": "" }, { "name": "negative regulation of microtubule depolymerization", "id": "GO:0007026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007026", "evidence": [ { "database": "UniProtKB", "id": "A1Z9J3", "url": "https://www.uniprot.org/uniprotkb/A1Z9J3" } ], "pmid": "" }, { "name": "positive regulation of axon extension", "id": "GO:0045773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045773", "evidence": [ { "database": "UniProtKB", "id": "A1Z9J3", "url": "https://www.uniprot.org/uniprotkb/A1Z9J3" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "A1Z9J3", "url": 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"url": "https://www.uniprot.org/uniprotkb/A1Z9J3" } ], "pmid": "" }, { "name": "open tracheal system development", "id": "GO:0007424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007424", "evidence": [ { "database": "UniProtKB", "id": "A1Z9J3", "url": "https://www.uniprot.org/uniprotkb/A1Z9J3" } ], "pmid": "" }, { "name": "mushroom body development", "id": "GO:0016319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016319", "evidence": [ { "database": "UniProtKB", "id": "A1Z9J3", "url": "https://www.uniprot.org/uniprotkb/A1Z9J3" } ], "pmid": "" }, { "name": "oocyte fate determination", "id": "GO:0030716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030716", "evidence": [ { "database": "UniProtKB", "id": "A1Z9J3", "url": "https://www.uniprot.org/uniprotkb/A1Z9J3" } ], "pmid": "" }, { "name": "branch fusion, open tracheal system", "id": "GO:0035147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035147", "evidence": [ { "database": "UniProtKB", "id": "A1Z9J3", "url": 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"https://www.uniprot.org/uniprotkb/A1Z7C1" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "A1Z7C1", "url": "https://www.uniprot.org/uniprotkb/A1Z7C1" } ], "pmid": "" }, { "name": "mismatched DNA binding", "id": "GO:0030983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030983", "evidence": [ { "database": "UniProtKB", "id": "A1Z7C1", "url": "https://www.uniprot.org/uniprotkb/A1Z7C1" } ], "pmid": "" }, { "name": "ATP-dependent DNA damage sensor activity", "id": "GO:0140664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140664", "evidence": [ { "database": "UniProtKB", "id": "A1Z7C1", "url": "https://www.uniprot.org/uniprotkb/A1Z7C1" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A1Z7C1", "url": "https://www.uniprot.org/uniprotkb/A1Z7C1" } ], "pmid": "" }, { "name": "mismatch repair complex", "id": "GO:0032300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032300", "evidence": [ { "database": "UniProtKB", "id": "A1Z7C1", "url": "https://www.uniprot.org/uniprotkb/A1Z7C1" } ], "pmid": "" }, { "name": "MutLalpha complex", "id": "GO:0032389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032389", "evidence": [ { "database": "UniProtKB", "id": "A1Z7C1", "url": "https://www.uniprot.org/uniprotkb/A1Z7C1" } ], "pmid": "" } ], "biological_process": [ { "name": "mismatch repair", "id": "GO:0006298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006298", "evidence": [ { "database": "UniProtKB", "id": "A1Z7C1", "url": "https://www.uniprot.org/uniprotkb/A1Z7C1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "E1JIZ9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "E1JIZ9", "url": "https://www.uniprot.org/uniprotkb/E1JIZ9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 651, "chemical_mass": 69812.0, "gene_names": "trv;BcDNA:RE10833;CG12870;CG12872;CG34362;Dmel\\CG34362;Dmel_CG34362;Tia1-like;trv", "protein_name": "", "disease": [ { "disease_id": "DOID:0081380", "name": "amyotrophic lateral sclerosis type 26", "description": "An amyotrophic lateral sclerosis that is characterized by adult onset of upper and low motor neuron disease causing bulbar dysfunction and limb weakness and that has_material_basis_in heterozygous mutation in the TIA1 gene on chromosome 2p13.", "url": "https://disease-ontology.org/term/DOID:0081380", "evidence": [ { "id": "0081380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081380" } ], "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 } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "E1JIZ9", "url": "https://www.uniprot.org/uniprotkb/E1JIZ9" } ], "pmid": "" }, { "name": "protein-RNA adaptor activity", "id": "GO:0140517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140517", "evidence": [ { "database": "UniProtKB", "id": "E1JIZ9", "url": "https://www.uniprot.org/uniprotkb/E1JIZ9" } ], "pmid": "" } ], "biological_process": [ { "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": "E1JIZ9", "url": "https://www.uniprot.org/uniprotkb/E1JIZ9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "E1JIZ9-1", "start_pos": "557", "end_pos": "557", "site_lbl": "Thr557", "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": 557, "start_aa": "Thr", "end_pos": 557, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr557", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "A8JRD0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A8JRD0", "url": "https://www.uniprot.org/uniprotkb/A8JRD0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1076, "chemical_mass": 119060.0, "gene_names": "LpR1;CG31094;CG31095;CG4861;CG4870;CG4874;CT15569;Dmel\\CG31094;Dmel_CG31094;LpR1;lpr1", "protein_name": "", "disease": [ { "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: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:0070556", "name": "cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1", "description": "A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the VLDLR gene, which encodes the very low density lipoprotein receptor, on chromosome 9p24.2.", "url": "https://disease-ontology.org/term/DOID:0070556", "evidence": [ { "id": "0070556", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070556" } ], "weight": 0.0 }, { "disease_id": "DOID:0110014", "name": "age related macular degeneration 1", "description": "An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1.", "url": "https://disease-ontology.org/term/DOID:0110014", "evidence": [ { "id": "0110014", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110014" } ], "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: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: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: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: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:12783", "name": "migraine without aura", "description": "A migraine that is characterized by migraine headaches that are not accompanied by an aura.", "url": "https://disease-ontology.org/term/DOID:12783", "evidence": [ { "id": "12783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12783" } ], "weight": 0.0 }, { "disease_id": "DOID:12849", "name": "autistic disorder", "description": "An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years.", "url": "https://disease-ontology.org/term/DOID:12849", "evidence": [ { "id": "12849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12849" } ], "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: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:13810", "name": "familial hypercholesterolemia", "description": "A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.", "url": "https://disease-ontology.org/term/DOID:13810", "evidence": [ { "id": "13810", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13810" } ], "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: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: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:3345", "name": "xanthomatosis", "description": "A lipid storage disease that is characterized by the desposition of yellowish cholesterol-rich material in tendons or other body parts.", "url": "https://disease-ontology.org/term/DOID:3345", "evidence": [ { "id": "3345", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3345" } ], "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: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: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: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 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A8JRD0", "url": "https://www.uniprot.org/uniprotkb/A8JRD0" } ], "pmid": "" } ], "biological_process": [ { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "A8JRD0", "url": "https://www.uniprot.org/uniprotkb/A8JRD0" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "A8JRD0", "url": "https://www.uniprot.org/uniprotkb/A8JRD0" } ], "pmid": "" }, { "name": "transport across blood-brain barrier", "id": "GO:0150104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150104", "evidence": [ { "database": "UniProtKB", "id": "A8JRD0", "url": "https://www.uniprot.org/uniprotkb/A8JRD0" } ], "pmid": "" }, { "name": "mushroom body development", "id": "GO:0016319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016319", "evidence": [ { "database": "UniProtKB", "id": "A8JRD0", "url": "https://www.uniprot.org/uniprotkb/A8JRD0" } ], "pmid": "" }, { "name": "lipid homeostasis", "id": "GO:0055088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055088", "evidence": [ { "database": "UniProtKB", "id": "A8JRD0", "url": "https://www.uniprot.org/uniprotkb/A8JRD0" } ], "pmid": "" } ], "molecular_function": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "A8JRD0", "url": "https://www.uniprot.org/uniprotkb/A8JRD0" } ], "pmid": "" }, { "name": "cargo receptor activity", "id": "GO:0038024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038024", "evidence": [ { "database": "UniProtKB", "id": "A8JRD0", "url": "https://www.uniprot.org/uniprotkb/A8JRD0" } ], "pmid": "" }, { "name": "lipoprotein particle receptor activity", "id": "GO:0030228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030228", "evidence": [ { "database": "UniProtKB", "id": "A8JRD0", "url": "https://www.uniprot.org/uniprotkb/A8JRD0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "B7YZU4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "B7YZU4", "url": "https://www.uniprot.org/uniprotkb/B7YZU4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 2044, "chemical_mass": 223647.0, "gene_names": "Camta;CG13952;CG13953;CG42332;CG8809;Camta;DmCAMTA;Dmel\\CG42332;Dmel_CG42332;camta;cro;dCAMTA;tes", "protein_name": "", "disease": [ { "disease_id": "DOID:0050998", "name": "nonprogressive cerebellar ataxia with mental retardation", "description": "An autosomal dominant cerebellar ataxia that is characterized by early onset of nonprogressive cerebellar ataxia, developmental delay, intellectual impairment and cerebellar atrophy, and has_material_basis_in autosomal dominant inheritance of mutation in the CAMTA1 gene.", "url": "https://disease-ontology.org/term/DOID:0050998", "evidence": [ { "id": "0050998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050998" } ], "weight": 0.0 } ], "biological_process": [ { "name": "system development", "id": "GO:0048731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048731", "evidence": [ { "database": "UniProtKB", "id": "B7YZU4", "url": "https://www.uniprot.org/uniprotkb/B7YZU4" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "B7YZU4", "url": 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"id": "A1Z6S4", "url": "https://www.uniprot.org/uniprotkb/A1Z6S4" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "A1Z6S4", "url": "https://www.uniprot.org/uniprotkb/A1Z6S4" } ], "pmid": "" } ], "molecular_function": [ { "name": "calcium-activated cation channel activity", "id": "GO:0005227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005227", "evidence": [ { "database": "UniProtKB", "id": "A1Z6S4", "url": "https://www.uniprot.org/uniprotkb/A1Z6S4" } ], "pmid": "" }, { "name": "ligand-gated sodium channel activity", "id": "GO:0015280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015280", "evidence": [ { "database": "UniProtKB", "id": "A1Z6S4", "url": "https://www.uniprot.org/uniprotkb/A1Z6S4" } ], "pmid": "" }, { "name": "sodium channel activity", "id": "GO:0005272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005272", "evidence": [ { "database": "UniProtKB", "id": "A1Z6S4", "url": "https://www.uniprot.org/uniprotkb/A1Z6S4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "A1Z7G6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1Z7G6", "url": "https://www.uniprot.org/uniprotkb/A1Z7G6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 429, "chemical_mass": 49153.0, "gene_names": "AAF59068;AAF59068;CG8642;Dmel\\CG8642;Dmel_CG8642;FBpp0087808", "protein_name": "Fibrinogen C-terminal domain-containing protein", "disease": [ { "disease_id": "DOID:2236", "name": "congenital afibrinogenemia", "description": "A blood coagulation disease that is characterized by an impaired blood clotting resulting from a lack deficiency of a the fibrinogen protein (coagulation factor I).", "url": "https://disease-ontology.org/term/DOID:2236", "evidence": [ { "id": "2236", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2236" } ], "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": "A1Z7G6", "url": "https://www.uniprot.org/uniprotkb/A1Z7G6" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A1Z7G6", "url": "https://www.uniprot.org/uniprotkb/A1Z7G6" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "A1Z7G6", "url": "https://www.uniprot.org/uniprotkb/A1Z7G6" } ], "pmid": "" } ], "biological_process": [ { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "A1Z7G6", "url": "https://www.uniprot.org/uniprotkb/A1Z7G6" } ], "pmid": "" } ], "molecular_function": [ { "name": "G protein-coupled receptor binding", "id": "GO:0001664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001664", "evidence": [ { "database": "UniProtKB", "id": "A1Z7G6", "url": "https://www.uniprot.org/uniprotkb/A1Z7G6" } ], "pmid": "" }, { "name": "chitin binding", "id": "GO:0008061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008061", "evidence": [ { "database": "UniProtKB", "id": "A1Z7G6", "url": "https://www.uniprot.org/uniprotkb/A1Z7G6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "A1Z7I2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1Z7I2", "url": "https://www.uniprot.org/uniprotkb/A1Z7I2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 611, "chemical_mass": 69906.0, "gene_names": "Dmel\\CG14743;CG14743;Dmel\\CG14743;Dmel_CG14743", "protein_name": "Sodium/calcium exchanger membrane region domain-containing protein", "disease": [], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A1Z7I2", "url": "https://www.uniprot.org/uniprotkb/A1Z7I2" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "A1Z7I2", "url": "https://www.uniprot.org/uniprotkb/A1Z7I2" } ], "pmid": "" }, { "name": "monoatomic cation transport", "id": "GO:0006812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006812", "evidence": [ { "database": "UniProtKB", "id": "A1Z7I2", "url": "https://www.uniprot.org/uniprotkb/A1Z7I2" } ], "pmid": "" } ], "molecular_function": [ { "name": "calcium:sodium antiporter activity", "id": "GO:0005432", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005432", "evidence": [ { "database": "UniProtKB", "id": "A1Z7I2", "url": "https://www.uniprot.org/uniprotkb/A1Z7I2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "A1Z7M5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1Z7M5", "url": "https://www.uniprot.org/uniprotkb/A1Z7M5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 389, "chemical_mass": 43186.0, "gene_names": "SP67;CG13744;Dmel\\CG13744;Dmel_CG13744;SP67;c-SP67;cSP67", "protein_name": "Peptidase S1 domain-containing protein", "disease": [ { "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:0111592", "name": "plasminogen deficiency type I", "description": "A syndrome characterized by decreased serum plasminogen activity, decreased plasminogen antigen levels, and chronic mucosal pseudomembranous lesions typically manifesting as ligneous conjunctivitis that has_material_basis_in homozygous or compound heterozygous mutation in PLG on chromosome 6q26.", "url": "https://disease-ontology.org/term/DOID:0111592", "evidence": [ { "id": "0111592", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111592" } ], "weight": 0.0 }, { "disease_id": "DOID:0111667", "name": "enterokinase deficiency", "description": "An intestinal disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption that has_material_basis_in homozygous or compound heterozygous mutation in the TMPRSS15 gene on chromosome 21q21.1.", "url": "https://disease-ontology.org/term/DOID:0111667", "evidence": [ { "id": "0111667", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111667" } ], "weight": 0.0 }, { "disease_id": "DOID:10159", "name": "osteonecrosis", "description": "An ischemic bone disease that results_in necrosis located_in bone.", "url": "https://disease-ontology.org/term/DOID:10159", "evidence": [ { "id": "10159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10159" } ], "weight": 0.0 }, { "disease_id": "DOID:14735", "name": "hereditary angioedema", "description": "An angioedema that is characterized by recurrent episodes of severe swelling of the skin and mucous membranes.", "url": "https://disease-ontology.org/term/DOID:14735", "evidence": [ { "id": "14735", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14735" } ], "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:3490", "name": "Noonan syndrome", "description": "A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.", "url": "https://disease-ontology.org/term/DOID:3490", "evidence": [ { "id": "3490", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3490" } ], "weight": 0.0 }, { "disease_id": "DOID:6195", "name": "conjunctivitis", "description": "A conjunctival disease characterized by an inflammation of the conjunctiva, the outermost layer of the eye and the inner surface of the eyelids.", "url": "https://disease-ontology.org/term/DOID:6195", "evidence": [ { "id": "6195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6195" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "serine-type endopeptidase activity", "id": "GO:0004252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004252", "evidence": [ { "database": "UniProtKB", "id": "A1Z7M5", "url": "https://www.uniprot.org/uniprotkb/A1Z7M5" } ], "pmid": "" }, { "name": "serine-type peptidase activity", "id": "GO:0008236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008236", "evidence": [ { "database": "UniProtKB", "id": "A1Z7M5", "url": "https://www.uniprot.org/uniprotkb/A1Z7M5" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "A1Z7M5", "url": "https://www.uniprot.org/uniprotkb/A1Z7M5" } ], "pmid": "" }, { "name": "protein processing", "id": "GO:0016485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016485", "evidence": [ { "database": "UniProtKB", "id": "A1Z7M5", "url": "https://www.uniprot.org/uniprotkb/A1Z7M5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "A1Z7M6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1Z7M6", "url": "https://www.uniprot.org/uniprotkb/A1Z7M6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 222, "chemical_mass": 24679.0, "gene_names": "Dmel\\CG13747;CG13747;Dmel\\CG13747;Dmel_CG13747;dmCG13747", "protein_name": "", "disease": [], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A1Z7M6", "url": "https://www.uniprot.org/uniprotkb/A1Z7M6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "A1Z7R6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1Z7R6", "url": "https://www.uniprot.org/uniprotkb/A1Z7R6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 519, "chemical_mass": 56997.0, "gene_names": "SLC46;CG8046;Dmel\\CG8046;Dmel_CG8046;SLC46", "protein_name": "Probable peptidoglycan muropeptide transporter SLC46", "disease": [ { "disease_id": "DOID:0111678", "name": "hereditary folate malabsorption", "description": "A vitamin metabolic disorder characterized by impaired intestinal folate absorption and impaired transport of folate into the central nervous system resulting in megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the SLC46A1 gene on chromosome 17q11.2.", "url": "https://disease-ontology.org/term/DOID:0111678", "evidence": [ { "id": "0111678", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111678" } ], "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 } ], "biological_process": [ { "name": "positive regulation of antimicrobial humoral response", "id": "GO:0002760", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002760", "evidence": [ { "database": "UniProtKB", "id": "A1Z7R6", "url": "https://www.uniprot.org/uniprotkb/A1Z7R6" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "A1Z7R6", "url": "https://www.uniprot.org/uniprotkb/A1Z7R6" } ], "pmid": "" }, { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "A1Z7R6", "url": "https://www.uniprot.org/uniprotkb/A1Z7R6" } ], "pmid": "" }, { "name": "peptidoglycan transport", "id": "GO:0015835", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015835", "evidence": [ { "database": "UniProtKB", "id": "A1Z7R6", "url": "https://www.uniprot.org/uniprotkb/A1Z7R6" } ], "pmid": "" }, { "name": "positive regulation of peptidoglycan recognition protein signaling pathway", "id": "GO:0061059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061059", "evidence": [ { "database": "UniProtKB", "id": "A1Z7R6", "url": "https://www.uniprot.org/uniprotkb/A1Z7R6" } ], "pmid": "" } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A1Z7R6", "url": "https://www.uniprot.org/uniprotkb/A1Z7R6" } ], "pmid": "" }, { "name": "phagocytic vesicle membrane", "id": "GO:0030670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030670", "evidence": [ { "database": "UniProtKB", "id": "A1Z7R6", "url": "https://www.uniprot.org/uniprotkb/A1Z7R6" } ], "pmid": "" } ], "molecular_function": [ { "name": "transmembrane transporter activity", "id": "GO:0022857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "A1Z7R6", "url": "https://www.uniprot.org/uniprotkb/A1Z7R6" } ], "pmid": "" }, { "name": "peptidoglycan transmembrane transporter activity", "id": "GO:0015647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015647", "evidence": [ { "database": "UniProtKB", "id": "A1Z7R6", "url": "https://www.uniprot.org/uniprotkb/A1Z7R6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "A1Z7S4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1Z7S4", "url": "https://www.uniprot.org/uniprotkb/A1Z7S4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 322, "chemical_mass": 36082.0, "gene_names": "anon-WO0242455.53;CG8026;Dmel\\CG8026;Dmel_CG8026;Dromel_CG8026_FBtr0088611_mORF;anon-WO0242455.53;anon-WO0242455.6;anon-WO0242455.7", "protein_name": "Mitochondrial folate transporter/carrier", "disease": [ { "disease_id": "DOID:0060358", "name": "multiple acyl-CoA dehydrogenase deficiency", "description": "An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has_material_basis_in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal.", "url": "https://disease-ontology.org/term/DOID:0060358", "evidence": [ { "id": "0060358", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060358" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "A1Z7S4", "url": "https://www.uniprot.org/uniprotkb/A1Z7S4" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A1Z7S4", "url": "https://www.uniprot.org/uniprotkb/A1Z7S4" } ], "pmid": "" } ], "biological_process": [ { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "A1Z7S4", "url": "https://www.uniprot.org/uniprotkb/A1Z7S4" } ], "pmid": "" } ], "molecular_function": [ { "name": "FAD transmembrane transporter activity", "id": "GO:0015230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015230", "evidence": [ { "database": "UniProtKB", "id": "A1Z7S4", "url": "https://www.uniprot.org/uniprotkb/A1Z7S4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "A1Z7Z4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1Z7Z4", "url": "https://www.uniprot.org/uniprotkb/A1Z7Z4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 232, "chemical_mass": 24220.0, "gene_names": "Dmel\\CG1648;CG1648;Dmel\\CG1648;Dmel_CG1648", "protein_name": "Late embryogenesis abundant protein ECP63", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": 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chromosome 2p22.", "url": "https://disease-ontology.org/term/DOID:0080611", "evidence": [ { "id": "0080611", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080611" } ], "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:1070", "name": "primary open angle glaucoma", "description": "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure.", "url": "https://disease-ontology.org/term/DOID:1070", "evidence": [ { "id": "1070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1070" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10892", "name": "hypospadias", "description": "A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum.", "url": "https://disease-ontology.org/term/DOID:10892", "evidence": [ { "id": "10892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ], "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:11211", "name": "buphthalmos", "description": "A hydrophthalmos characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure, increased corneal diameter, and swelling of the globe and has_symptom early vision loss, photophobia, blepharospasm, tearing, increased corneal diameter, increased corneal thickness, and enlarged globe. Buphthalmos is caused by severe congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss.", "url": "https://disease-ontology.org/term/DOID:11211", "evidence": [ { "id": "11211", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11211" } ], "weight": 0.0 }, { "disease_id": "DOID:11212", "name": "hydrophthalmos", "description": "A primary congenital glaucoma characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure and increased corneal diameter and has_symptom early vision loss, increased corneal diameter, and increased corneal thickness. Hydrophthalmus is caused by congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss.", "url": "https://disease-ontology.org/term/DOID:11212", "evidence": [ { "id": "11212", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11212" } ], "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:11612", "name": "polycystic ovary syndrome", "description": "An ovarian dysfunction that is characterized by hyperandrogenism, 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: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:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx.", "url": "https://disease-ontology.org/term/DOID:11934", "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ], "weight": 0.0 }, { "disease_id": "DOID: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:12361", "name": "Graves' disease", "description": "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.", "url": "https://disease-ontology.org/term/DOID:12361", "evidence": [ { "id": "12361", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12361" } ], "weight": 0.0 }, { "disease_id": "DOID:12894", "name": "Sjogren's syndrome", "description": "An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.", "url": "https://disease-ontology.org/term/DOID:12894", "evidence": [ { "id": "12894", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12894" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:289", "name": "endometriosis", "description": "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.", "url": "https://disease-ontology.org/term/DOID:289", "evidence": [ { "id": "289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:289" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3121", "name": "gallbladder cancer", "description": "A biliary tract cancer that is located_in the gallbladder.", "url": "https://disease-ontology.org/term/DOID:3121", "evidence": [ { "id": "3121", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3121" } ], "weight": 0.0 }, { "disease_id": "DOID:3132", "name": "porphyria cutanea tarda", "description": "An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin.", "url": "https://disease-ontology.org/term/DOID:3132", "evidence": [ { "id": "3132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3132" } ], "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:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3907", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell.", "url": "https://disease-ontology.org/term/DOID:3907", "evidence": [ { "id": "3907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3907" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4607", "name": "biliary tract cancer", "description": "A hepatobiliary system cancer that results_in malignant growth located_in the gallbladder or located_in the bile duct.", "url": "https://disease-ontology.org/term/DOID:4607", "evidence": [ { "id": "4607", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4607" } ], "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: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:6132", "name": "bronchitis", "description": "A bronchial disease that is an inflammation of the bronchial tubes. It is caused by bacteria and viruses. The disease has_symptom cough with mucus, has_symptom shortness of breath, has_symptom low fever and has_symptom chest tightness.", "url": "https://disease-ontology.org/term/DOID:6132", "evidence": [ { "id": "6132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6132" } ], "weight": 0.0 }, { "disease_id": "DOID:6196", "name": "reactive arthritis", "description": "An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body.", "url": "https://disease-ontology.org/term/DOID:6196", "evidence": [ { "id": "6196", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6196" } ], "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:824", "name": "periodontitis", "description": "", "url": "https://disease-ontology.org/term/DOID:824", "evidence": [ { "id": "824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:824" } ], "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:8618", "name": "oral cavity cancer", "description": "A gastrointestinal system cancer that is located_in the oral cavity.", "url": "https://disease-ontology.org/term/DOID:8618", "evidence": [ { "id": "8618", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8618" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9008", "name": "psoriatic arthritis", "description": "An arthritis that is characterized by joint inflammation that usually occurs in combination with psoriasis.", "url": "https://disease-ontology.org/term/DOID:9008", "evidence": [ { "id": "9008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9008" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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 } ], "molecular_function": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "A8Y592", "url": "https://www.uniprot.org/uniprotkb/A8Y592" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "A8Y592", "url": "https://www.uniprot.org/uniprotkb/A8Y592" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "A8Y592", "url": "https://www.uniprot.org/uniprotkb/A8Y592" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004497", "evidence": [ { "database": "UniProtKB", "id": "A8Y592", "url": "https://www.uniprot.org/uniprotkb/A8Y592" } ], "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": "A8Y592", "url": "https://www.uniprot.org/uniprotkb/A8Y592" } ], "pmid": "" } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A8Y592", "url": "https://www.uniprot.org/uniprotkb/A8Y592" } ], "pmid": "" } ], "biological_process": [ { "name": "ecdysone biosynthetic process", "id": "GO:0006697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006697", "evidence": [ { "database": "UniProtKB", "id": "A8Y592", "url": "https://www.uniprot.org/uniprotkb/A8Y592" } ], "pmid": "" }, { "name": "molting cycle, chitin-based cuticle", "id": "GO:0007591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007591", "evidence": [ { "database": "UniProtKB", "id": "A8Y592", "url": "https://www.uniprot.org/uniprotkb/A8Y592" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "B7YZE5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "B7YZE5", "url": "https://www.uniprot.org/uniprotkb/B7YZE5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 452, "chemical_mass": 50544.0, "gene_names": "CG17041;CG17041;CG17042;CG42319;Dmel\\CG42319;Dmel_CG42319", "protein_name": "PDZ domain-containing protein", "disease": [ { "disease_id": "DOID:0050431", "name": "arrhythmogenic right ventricular cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle and limited or no involvement of the left ventricle.", "url": "https://disease-ontology.org/term/DOID:0050431", "evidence": [ { "id": "0050431", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050431" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "muscle alpha-actinin binding", "id": "GO:0051371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051371", "evidence": [ { "database": "UniProtKB", "id": "B7YZE5", "url": "https://www.uniprot.org/uniprotkb/B7YZE5" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "B7YZE5", "url": "https://www.uniprot.org/uniprotkb/B7YZE5" } ], "pmid": "" } ], "cellular_component": [ { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "B7YZE5", "url": "https://www.uniprot.org/uniprotkb/B7YZE5" } ], "pmid": "" }, { "name": "stress fiber", "id": "GO:0001725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001725", "evidence": [ { "database": "UniProtKB", "id": "B7YZE5", "url": "https://www.uniprot.org/uniprotkb/B7YZE5" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "B7YZE5", "url": "https://www.uniprot.org/uniprotkb/B7YZE5" } ], "pmid": "" }, { "name": "filamentous actin", "id": "GO:0031941", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031941", "evidence": [ { "database": "UniProtKB", "id": "B7YZE5", "url": "https://www.uniprot.org/uniprotkb/B7YZE5" } ], "pmid": "" } ], "biological_process": [ { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "B7YZE5", "url": "https://www.uniprot.org/uniprotkb/B7YZE5" } ], "pmid": "" }, { "name": "muscle structure development", "id": "GO:0061061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061061", "evidence": [ { "database": "UniProtKB", "id": "B7YZE5", "url": "https://www.uniprot.org/uniprotkb/B7YZE5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "B7YZI3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "B7YZI3", "url": "https://www.uniprot.org/uniprotkb/B7YZI3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 74, "chemical_mass": 8772.0, "gene_names": "Dmel\\CG42392;CG42392;Dmel\\CG42392;Dmel_CG42392", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "B7YZQ4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "B7YZQ4", "url": 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"batch.fruitfly.4" }, { "uniprot_canonical_ac": "M9ND55-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "M9ND55", "url": "https://www.uniprot.org/uniprotkb/M9ND55" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1039, "chemical_mass": 109673.0, "gene_names": "Mp;CG14822;CG33171;CG42543;CG8645;CG8647;COL18A1;CT14872;Dmel\\CG42543;Dmel_CG42543;Dmp;Mp;dmp;mp;multiplexin", "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:0060680", "name": "pigment dispersion syndrome", "description": "An eye disease characterized by slit-like depigmented areas of the iris with up to 50% of patients going on to develop glaucoma.", "url": "https://disease-ontology.org/term/DOID:0060680", "evidence": [ { "id": "0060680", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060680" } ], "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: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" } ], 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Primary angle-closure glaucoma has a strong genetic component.", "url": "https://disease-ontology.org/term/DOID:1405", "evidence": [ { "id": "1405", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1405" } ], "weight": 0.0 }, { "disease_id": "DOID:423", "name": "myopathy", "description": "A muscular disease in which the muscle fibers do not function resulting in muscular weakness.", "url": "https://disease-ontology.org/term/DOID:423", "evidence": [ { "id": "423", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:423" } ], "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:699", "name": "mitochondrial myopathy", "description": "A myopathy that is characterized by mitochondrial dysfunction.", "url": "https://disease-ontology.org/term/DOID:699", "evidence": [ { "id": "699", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:699" } ], "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 } ], "molecular_function": [ { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "M9ND55", "url": "https://www.uniprot.org/uniprotkb/M9ND55" } ], "pmid": "" }, { "name": "extracellular matrix structural constituent conferring tensile 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"name": "myelodysplastic syndrome", "description": "A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets.", "url": "https://disease-ontology.org/term/DOID:0050908", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ], "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:0060318", "name": "acute promyelocytic leukemia", "description": "An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17.", "url": "https://disease-ontology.org/term/DOID:0060318", "evidence": [ { "id": "0060318", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060318" } ], "weight": 0.0 }, { "disease_id": "DOID:0060500", "name": "drug allergy", "description": "An allergic disease that is triggered by a drug.", "url": "https://disease-ontology.org/term/DOID:0060500", "evidence": [ { "id": "0060500", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060500" } ], "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: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:0080199", "name": "colorectal carcinoma", "description": "A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa.", "url": "https://disease-ontology.org/term/DOID:0080199", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ], "weight": 0.0 }, { "disease_id": "DOID: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:10128", "name": "venous insufficiency", "description": "A vein disease that is characterized by impaired flow of blood through the veins.", "url": "https://disease-ontology.org/term/DOID:10128", "evidence": [ { "id": "10128", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10128" } ], "weight": 0.0 }, { "disease_id": "DOID:10159", "name": "osteonecrosis", "description": "An ischemic bone disease that results_in necrosis located_in bone.", "url": "https://disease-ontology.org/term/DOID:10159", "evidence": [ { "id": "10159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10159" } ], "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:1037", "name": "lymphoid leukemia", "description": "A leukemia that has_material_basis_in a B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood.", "url": "https://disease-ontology.org/term/DOID:1037", "evidence": [ { "id": "1037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1037" } ], "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: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: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:1070", "name": "primary open angle glaucoma", "description": "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure.", "url": "https://disease-ontology.org/term/DOID:1070", "evidence": [ { "id": "1070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1070" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID: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:10892", "name": "hypospadias", "description": "A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum.", "url": "https://disease-ontology.org/term/DOID:10892", "evidence": [ { "id": "10892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ], "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:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:11650", "name": "bronchopulmonary dysplasia", "description": "A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.", "url": "https://disease-ontology.org/term/DOID:11650", "evidence": [ { "id": "11650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ], "weight": 0.0 }, { "disease_id": "DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx.", "url": "https://disease-ontology.org/term/DOID:11934", "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ], "weight": 0.0 }, { "disease_id": "DOID:1210", "name": "optic neuritis", "description": "An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision.", "url": "https://disease-ontology.org/term/DOID:1210", "evidence": [ { "id": "1210", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1210" } ], "weight": 0.0 }, { "disease_id": "DOID:12241", "name": "beta thalassemia", "description": "A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.", "url": "https://disease-ontology.org/term/DOID:12241", "evidence": [ { "id": "12241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12241" } ], "weight": 0.0 }, { "disease_id": "DOID:1227", "name": "neutropenia", "description": "", "url": "https://disease-ontology.org/term/DOID:1227", "evidence": [ { "id": "1227", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1227" } ], "weight": 0.0 }, { "disease_id": "DOID:12449", "name": "aplastic anemia", "description": "A normocytic anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow.", "url": "https://disease-ontology.org/term/DOID:12449", "evidence": [ { "id": "12449", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12449" } ], "weight": 0.0 }, { "disease_id": "DOID:1287", "name": "cardiovascular system disease", "description": "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.", "url": "https://disease-ontology.org/term/DOID:1287", "evidence": [ { "id": "1287", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1287" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:13636", "name": "Fanconi anemia", "description": "A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair.", "url": "https://disease-ontology.org/term/DOID:13636", "evidence": [ { "id": "13636", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13636" } ], "weight": 0.0 }, { "disease_id": "DOID:13641", "name": "exfoliation syndrome", "description": "A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures.", "url": "https://disease-ontology.org/term/DOID:13641", "evidence": [ { "id": "13641", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13641" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1474", "name": "aggressive periodontitis", "description": "A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium.", "url": "https://disease-ontology.org/term/DOID:1474", "evidence": [ { "id": "1474", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1474" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:1584", "name": "acute chest syndrome", "description": "A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph.", "url": "https://disease-ontology.org/term/DOID:1584", "evidence": [ { "id": "1584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1584" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:1682", "name": "congenital heart disease", "description": "A physical disorder that is characterized by problems with the heart's structure that are present at birth.", "url": "https://disease-ontology.org/term/DOID:1682", "evidence": [ { "id": "1682", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1682" } ], "weight": 0.0 }, { "disease_id": "DOID:2152", "name": "ovary epithelial cancer", "description": "An ovarian cancer that is derives_from ovarian surface epithelium.", "url": "https://disease-ontology.org/term/DOID:2152", "evidence": [ { "id": "2152", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2152" } ], "weight": 0.0 }, { "disease_id": "DOID:231", "name": "motor neuron disease", "description": "A neurodegenerative disease that is located_in the motor neurons.", "url": "https://disease-ontology.org/term/DOID:231", "evidence": [ { "id": "231", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:231" } ], "weight": 0.0 }, { "disease_id": "DOID:234", "name": "colon adenocarcinoma", "description": "A colon carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:234", "evidence": [ { "id": "234", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:234" } ], "weight": 0.0 }, { "disease_id": "DOID:2355", "name": "anemia", "description": "A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.", "url": "https://disease-ontology.org/term/DOID:2355", "evidence": [ { "id": "2355", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2355" } ], "weight": 0.0 }, { "disease_id": "DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID:2671", "name": "transitional cell carcinoma", "description": "A carcinoma that derives_from transitional epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2671", "evidence": [ { "id": "2671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2671" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2893", "name": "cervix carcinoma", "description": "A cervical cancer that is located_in the cervix uteri or located_in the cervical area and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2893", "evidence": [ { "id": "2893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2893" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3883", "name": "Lynch syndrome", "description": "A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers.", "url": "https://disease-ontology.org/term/DOID:3883", "evidence": [ { "id": "3883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3883" } ], "weight": 0.0 }, { "disease_id": "DOID:4074", "name": "pancreatic adenocarcinoma", "description": "A pancreatic carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4074", "evidence": [ { "id": "4074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4074" } ], "weight": 0.0 }, { "disease_id": "DOID:409", "name": "liver disease", "description": "", "url": "https://disease-ontology.org/term/DOID:409", "evidence": [ { "id": "409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:409" } ], "weight": 0.0 }, { "disease_id": "DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix.", "url": "https://disease-ontology.org/term/DOID:4362", "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4914", "name": "esophagus adenocarcinoma", "description": "An esophageal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4914", "evidence": [ { "id": "4914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4914" } ], "weight": 0.0 }, { "disease_id": "DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:5041", "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:574", "name": "peripheral nervous system disease", "description": "A nervous system disease that affects the peripheral nervous system.", "url": "https://disease-ontology.org/term/DOID:574", "evidence": [ { "id": "574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:574" } ], "weight": 0.0 }, { "disease_id": "DOID:5773", "name": "oral submucous fibrosis", "description": "A mouth disease that is characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues.", "url": "https://disease-ontology.org/term/DOID:5773", "evidence": [ { "id": "5773", "database": "AGR", "url": 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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": "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:0016298", "evidence": [ { "database": "UniProtKB", "id": "M9NFL7", "url": "https://www.uniprot.org/uniprotkb/M9NFL7" } ], "pmid": "" }, { "name": "triacylglycerol lipase activity", "id": "GO:0004806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004806", "evidence": [ { "database": "UniProtKB", "id": "M9NFL7", "url": "https://www.uniprot.org/uniprotkb/M9NFL7" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "M9NFL7", "url": "https://www.uniprot.org/uniprotkb/M9NFL7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "M9NFN8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "M9NFN8", "url": "https://www.uniprot.org/uniprotkb/M9NFN8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 211, "chemical_mass": 24018.0, "gene_names": "Dmel\\CG43312;CG43312;Dmel\\CG43312;Dmel_CG43312", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "M9NFN9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "M9NFN9", "url": "https://www.uniprot.org/uniprotkb/M9NFN9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 56, "chemical_mass": 6476.0, "gene_names": "Dmel\\CG43439;CG43439;Dmel\\CG43439;Dmel_CG43439", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "M9NGJ4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "M9NGJ4", "url": "https://www.uniprot.org/uniprotkb/M9NGJ4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 217, "chemical_mass": 23194.0, "gene_names": "Dmel\\CG13004;CG13004;Dmel\\CG13004;Dmel_CG13004", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "M9PAZ8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "M9PAZ8", "url": "https://www.uniprot.org/uniprotkb/M9PAZ8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 388, "chemical_mass": 43067.0, "gene_names": "Dmel\\CG7420;CG7420;Dmel\\CG7420;Dmel_CG7420", "protein_name": "RCC1-like domain-containing protein", "disease": [ { "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. 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"https://www.uniprot.org/uniprotkb/M9PAZ8" } ], "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": "M9PAZ8", "url": "https://www.uniprot.org/uniprotkb/M9PAZ8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "M9PB06-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "M9PB06", "url": "https://www.uniprot.org/uniprotkb/M9PB06" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 317, "chemical_mass": 35112.0, "gene_names": "Dmel\\CG10874;FBgn 31395;CG10874;Dmel\\CG10874;Dmel_CG10874;FBgn 31395", "protein_name": "Coiled-coil domain-containing protein 28B", "disease": [ { "disease_id": "DOID:0110123", "name": "Bardet-Biedl syndrome 1", "description": "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS1 gene on chromosome 11q13.", "url": "https://disease-ontology.org/term/DOID:0110123", "evidence": [ { "id": "0110123", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110123" } ], "weight": 0.0 }, { "disease_id": "DOID:1935", "name": "Bardet-Biedl syndrome", "description": "A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.", "url": "https://disease-ontology.org/term/DOID:1935", "evidence": [ { "id": "1935", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1935" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "M9PB06", "url": "https://www.uniprot.org/uniprotkb/M9PB06" } ], "pmid": "" } ], "biological_process": [ { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "M9PB06", "url": "https://www.uniprot.org/uniprotkb/M9PB06" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "M9PB06-1", "start_pos": "31", "end_pos": "31", "site_lbl": "Thr31", "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": 31, "start_aa": "Thr", "end_pos": 31, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr31", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "M9PBE1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "M9PBE1", "url": "https://www.uniprot.org/uniprotkb/M9PBE1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1319, "chemical_mass": 146182.0, "gene_names": "cyst;CG10188;Cysts;Cyst;Dmel\\CG10188;Dmel_CG10188;Dp114/Cysts;Dp114RhoGEF;cyst", "protein_name": "", "disease": [ { "disease_id": "DOID:0061113", "name": "retinitis pigmentosa 78", "description": "A retinitis pigmentosa characterized by central visual disturbance, visual field defects, and nyctalopia that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGEF18 gene on chromosome 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"https://www.uniprot.org/uniprotkb/M9PBE1" } ], "pmid": "" }, { "name": "cleavage furrow rim", "id": "GO:0090688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090688", "evidence": [ { "database": "UniProtKB", "id": "M9PBE1", "url": "https://www.uniprot.org/uniprotkb/M9PBE1" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "M9PBE1", "url": "https://www.uniprot.org/uniprotkb/M9PBE1" } ], "pmid": "" }, { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "M9PBE1", "url": "https://www.uniprot.org/uniprotkb/M9PBE1" } ], "pmid": "" } ], "biological_process": [ { "name": "small GTPase-mediated signal transduction", "id": "GO:0007264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007264", "evidence": [ { "database": "UniProtKB", "id": "M9PBE1", "url": "https://www.uniprot.org/uniprotkb/M9PBE1" } ], "pmid": "" }, { "name": "regulation of Rho protein signal transduction", "id": "GO:0035023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035023", "evidence": [ { "database": "UniProtKB", "id": "M9PBE1", "url": "https://www.uniprot.org/uniprotkb/M9PBE1" } ], "pmid": "" }, { "name": "positive regulation of Rho protein signal transduction", "id": "GO:0035025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035025", "evidence": [ { "database": "UniProtKB", "id": "M9PBE1", "url": "https://www.uniprot.org/uniprotkb/M9PBE1" } ], "pmid": "" }, { "name": "mitotic cytokinesis, division site positioning", "id": "GO:1902408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902408", "evidence": [ { "database": "UniProtKB", "id": "M9PBE1", "url": "https://www.uniprot.org/uniprotkb/M9PBE1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "M9PBF3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "M9PBF3", "url": "https://www.uniprot.org/uniprotkb/M9PBF3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 15, "chemical_mass": 1722.0, "gene_names": "Dmel\\CG43739;CG43739;Dm_2L:110584;Dmel\\CG43739;Dmel_CG43739", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "M9PBN2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "M9PBN2", "url": "https://www.uniprot.org/uniprotkb/M9PBN2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 245, "chemical_mass": 27155.0, "gene_names": "NLaz;BcDNA:RE67583;CG16933;CG33126;CT33980;DNLaz;Dmel\\CG33126;Dmel_CG33126;NLaz;Nlaz;nlaz", "protein_name": "Apolipoprotein D", "disease": [ { "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: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: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: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:4762", "name": "vasculogenic impotence", "description": "An impotence that is characterized by an inability to achieve and maintain an erection due to defects in the arterial blood flow to the penis or a defect in venous occlusive function allowing blood drainage from the erectile tissue.", "url": "https://disease-ontology.org/term/DOID:4762", "evidence": [ { "id": "4762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4762" } ], "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 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"GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "M9PBN2", "url": "https://www.uniprot.org/uniprotkb/M9PBN2" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "M9PBN2", "url": "https://www.uniprot.org/uniprotkb/M9PBN2" } ], "pmid": "" }, { "name": "response to reactive oxygen species", "id": "GO:0000302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000302", "evidence": [ { "database": "UniProtKB", "id": "M9PBN2", "url": "https://www.uniprot.org/uniprotkb/M9PBN2" } ], "pmid": "" }, { "name": "triglyceride homeostasis", "id": "GO:0070328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070328", "evidence": [ { "database": "UniProtKB", "id": "M9PBN2", "url": "https://www.uniprot.org/uniprotkb/M9PBN2" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "M9PBN2", "url": "https://www.uniprot.org/uniprotkb/M9PBN2" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "M9PBN2", "url": "https://www.uniprot.org/uniprotkb/M9PBN2" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "M9PBN2", "url": "https://www.uniprot.org/uniprotkb/M9PBN2" } ], "pmid": "" } ], "molecular_function": [ { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "M9PBN2", "url": "https://www.uniprot.org/uniprotkb/M9PBN2" } ], "pmid": "" }, { "name": "pigment binding", "id": "GO:0031409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031409", "evidence": [ { "database": "UniProtKB", "id": "M9PBN2", "url": "https://www.uniprot.org/uniprotkb/M9PBN2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "M9PBT0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "M9PBT0", "url": "https://www.uniprot.org/uniprotkb/M9PBT0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 56, "chemical_mass": 6806.0, "gene_names": "Dmel\\CG44139;CG44139;Dmel\\CG44139;Dmel_CG44139;FBgn0264988", "protein_name": "Seminal fluid protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "M9PBX3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "M9PBX3", "url": "https://www.uniprot.org/uniprotkb/M9PBX3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 624, "chemical_mass": 70223.0, "gene_names": "Dmel\\CG31689;CG31689;CG9892;DmCG31689;Dmel\\CG31689;Dmel_CG31689", "protein_name": "ABC transporter domain-containing protein", "disease": [ { "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": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "M9PBX3", "url": "https://www.uniprot.org/uniprotkb/M9PBX3" } ], "pmid": "" }, { "name": "ATPase-coupled transmembrane transporter activity", "id": "GO:0042626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042626", "evidence": [ { "database": "UniProtKB", "id": "M9PBX3", "url": "https://www.uniprot.org/uniprotkb/M9PBX3" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "M9PBX3", "url": "https://www.uniprot.org/uniprotkb/M9PBX3" } ], "pmid": "" }, { "name": "ABC-type transporter activity", "id": "GO:0140359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140359", "evidence": [ { "database": "UniProtKB", "id": "M9PBX3", "url": "https://www.uniprot.org/uniprotkb/M9PBX3" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "M9PBX3", "url": "https://www.uniprot.org/uniprotkb/M9PBX3" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "M9PBX3", "url": "https://www.uniprot.org/uniprotkb/M9PBX3" } ], "pmid": "" } ], "biological_process": [ { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "M9PBX3", "url": "https://www.uniprot.org/uniprotkb/M9PBX3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "M9PBZ7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "M9PBZ7", "url": "https://www.uniprot.org/uniprotkb/M9PBZ7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 213, "chemical_mass": 23898.0, "gene_names": "lincRNA.43;CG43798;Dmel\\CG43798;Dmel_CG43798;lincRNA.43", "protein_name": "", "disease": [], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "M9PBZ7", "url": "https://www.uniprot.org/uniprotkb/M9PBZ7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "M9PBZ7-1", "start_pos": "195", "end_pos": "195", "site_lbl": "Thr195", "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": 195, "start_aa": "Thr", "end_pos": 195, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr195", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "M9PC46-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "M9PC46", "url": "https://www.uniprot.org/uniprotkb/M9PC46" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1519, "chemical_mass": 166243.0, "gene_names": "robo2;CG14347;CG14348;CG5481;CG5574;CT17326;D-Robo2;D-robo2;Dmel\\CG5481;Dmel_CG5481;ROBO2;Robo 2;Robo-2;Robo2 (Lea);Robo2;Robo;anon-EST:Liang-1.75;clone 1.75;dRobo-2;fus4;lea;robo-2;robo2;robo", "protein_name": "", "disease": [ { "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:0061018", "name": "combined or isolated pituitary hormone deficiency 8", "description": "A combined pituitary hormone deficiency that has_material_basis_in heterozygous mutation in the ROBO1 gene on chromosome 3p12.", "url": "https://disease-ontology.org/term/DOID:0061018", "evidence": [ { "id": "0061018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061018" } ], "weight": 0.0 }, { "disease_id": "DOID:0061178", "name": "autosomal recessive congenital nystagmus 8", "description": "A congenital nystagmus that has_material_basis_in mutation in the FRMD7 gene on chromosome Xq26.2.", "url": "https://disease-ontology.org/term/DOID:0061178", "evidence": [ { "id": "0061178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061178" } ], "weight": 0.0 }, { "disease_id": "DOID:0080745", "name": "polymyositis", "description": "A myositis that is characterized by muscle weakness affecting both sides of your body.", "url": "https://disease-ontology.org/term/DOID:0080745", "evidence": [ { "id": "0080745", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080745" } ], "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: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: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: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:2975", "name": "cystic kidney disease", "description": "A kidney disease that is characterized by the formation of cysts (fluid-filled sacs) in and around the kidney.", "url": "https://disease-ontology.org/term/DOID:2975", "evidence": [ { "id": "2975", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2975" } ], "weight": 0.0 }, { "disease_id": "DOID:3721", "name": "plasmacytoma", "description": "", "url": "https://disease-ontology.org/term/DOID:3721", "evidence": [ { "id": "3721", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3721" } ], "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 } ], "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": "M9PC46", "url": "https://www.uniprot.org/uniprotkb/M9PC46" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "M9PC46", "url": "https://www.uniprot.org/uniprotkb/M9PC46" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "M9PC46", "url": "https://www.uniprot.org/uniprotkb/M9PC46" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "M9PC46", "url": "https://www.uniprot.org/uniprotkb/M9PC46" } ], "pmid": "" }, { "name": "outflow tract morphogenesis", "id": "GO:0003151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003151", "evidence": [ { "database": "UniProtKB", "id": "M9PC46", "url": "https://www.uniprot.org/uniprotkb/M9PC46" } ], "pmid": "" }, { "name": "embryonic heart tube development", "id": "GO:0035050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035050", "evidence": [ { "database": "UniProtKB", "id": "M9PC46", "url": "https://www.uniprot.org/uniprotkb/M9PC46" } ], "pmid": "" }, { "name": "gonad development", "id": "GO:0008406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008406", "evidence": [ { "database": "UniProtKB", "id": "M9PC46", "url": "https://www.uniprot.org/uniprotkb/M9PC46" } ], "pmid": "" }, { "name": "synaptic target recognition", "id": "GO:0008039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008039", "evidence": [ { "database": "UniProtKB", "id": "M9PC46", "url": "https://www.uniprot.org/uniprotkb/M9PC46" } ], "pmid": "" }, { "name": "cardioblast cell fate specification", "id": "GO:0042685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042685", "evidence": [ { "database": "UniProtKB", "id": "M9PC46", "url": "https://www.uniprot.org/uniprotkb/M9PC46" } ], "pmid": "" }, { "name": "ventral cord development", "id": "GO:0007419", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007419", "evidence": [ { "database": "UniProtKB", "id": "M9PC46", "url": "https://www.uniprot.org/uniprotkb/M9PC46" } ], "pmid": "" }, { "name": "salivary gland boundary specification", "id": "GO:0007432", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007432", "evidence": [ { "database": "UniProtKB", "id": "M9PC46", "url": "https://www.uniprot.org/uniprotkb/M9PC46" } ], "pmid": "" }, { "name": "synaptic target inhibition", "id": "GO:0016201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016201", "evidence": [ { "database": "UniProtKB", "id": "M9PC46", "url": "https://www.uniprot.org/uniprotkb/M9PC46" } ], "pmid": "" }, { "name": "mushroom body development", "id": "GO:0016319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016319", "evidence": [ { "database": "UniProtKB", "id": "M9PC46", "url": "https://www.uniprot.org/uniprotkb/M9PC46" } ], "pmid": "" }, { "name": "central complex development", "id": "GO:0048036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048036", "evidence": [ { "database": "UniProtKB", "id": "M9PC46", "url": "https://www.uniprot.org/uniprotkb/M9PC46" } ], "pmid": "" }, { "name": "regulation of epithelial cell migration, open tracheal system", "id": "GO:2000274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000274", "evidence": [ { "database": "UniProtKB", "id": "M9PC46", 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"url": "https://www.uniprot.org/uniprotkb/M9PI37" } ], "pmid": "" } ], "molecular_function": [ { "name": "amino acid transmembrane transporter activity", "id": "GO:0015171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015171", "evidence": [ { "database": "UniProtKB", "id": "M9PI37", "url": "https://www.uniprot.org/uniprotkb/M9PI37" } ], "pmid": "" }, { "name": "sodium:potassium:chloride symporter activity", "id": "GO:0008511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008511", "evidence": [ { "database": "UniProtKB", "id": "M9PI37", "url": "https://www.uniprot.org/uniprotkb/M9PI37" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "M9PIH9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "M9PIH9", "url": "https://www.uniprot.org/uniprotkb/M9PIH9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 471, "chemical_mass": 51785.0, "gene_names": "TfAP-2;AP-2alpha;AP-2;CG7807;DAP-2;Dmel\\CG7807;Dmel_CG7807;TfAP-2;TfaP-2;Tfap-2;Tfap2;dAP-2alpha;dAP-2;dTfap2;l(3)1215;tfAP-2", "protein_name": "", "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:0050691", "name": "branchiooculofacial syndrome", "description": "A syndrome that is characterized by low birth weight and growth retardation, bilateral branchial clefts.", "url": "https://disease-ontology.org/term/DOID:0050691", "evidence": [ { "id": "0050691", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050691" } ], "weight": 0.0 }, { "disease_id": "DOID:0060563", "name": "Char syndrome", "description": "A patent ductus arteriosus with facial dysmorphism and abnormal fifth digits.", "url": "https://disease-ontology.org/term/DOID:0060563", "evidence": [ { "id": "0060563", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060563" } ], "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:13550", "name": "angle-closure glaucoma", "description": "A glaucoma characterized by closure of the anterior chamber angle such 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"male courtship behavior", "id": "GO:0008049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008049", "evidence": [ { "database": "UniProtKB", "id": "M9PIH9", "url": "https://www.uniprot.org/uniprotkb/M9PIH9" } ], "pmid": "" }, { "name": "inter-male aggressive behavior", "id": "GO:0002121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002121", "evidence": [ { "database": "UniProtKB", "id": "M9PIH9", "url": "https://www.uniprot.org/uniprotkb/M9PIH9" } ], "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": "M9PIH9", "url": "https://www.uniprot.org/uniprotkb/M9PIH9" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "M9PIH9", "url": "https://www.uniprot.org/uniprotkb/M9PIH9" } ], "pmid": "" }, { "name": "adult locomotory behavior", "id": "GO:0008344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008344", "evidence": [ { "database": "UniProtKB", "id": "M9PIH9", "url": "https://www.uniprot.org/uniprotkb/M9PIH9" } ], "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": "M9PIH9", "url": "https://www.uniprot.org/uniprotkb/M9PIH9" } ], "pmid": "" }, { "name": "adult feeding behavior", "id": "GO:0008343", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008343", "evidence": [ { "database": "UniProtKB", "id": "M9PIH9", "url": "https://www.uniprot.org/uniprotkb/M9PIH9" } ], "pmid": "" }, { "name": "imaginal disc-derived leg joint morphogenesis", "id": "GO:0016348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016348", "evidence": [ { "database": "UniProtKB", "id": "M9PIH9", "url": "https://www.uniprot.org/uniprotkb/M9PIH9" } ], "pmid": "" }, { "name": "proboscis development", "id": "GO:0048728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048728", "evidence": [ { "database": "UniProtKB", "id": "M9PIH9", "url": "https://www.uniprot.org/uniprotkb/M9PIH9" } ], "pmid": "" }, { "name": "imaginal disc-derived leg morphogenesis", "id": "GO:0007480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007480", "evidence": [ { "database": "UniProtKB", "id": "M9PIH9", "url": "https://www.uniprot.org/uniprotkb/M9PIH9" } ], "pmid": "" }, { "name": "imaginal disc-derived male genitalia development", "id": "GO:0007485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007485", "evidence": [ { "database": "UniProtKB", "id": "M9PIH9", "url": "https://www.uniprot.org/uniprotkb/M9PIH9" } ], "pmid": "" }, { "name": "regulation of circadian sleep/wake cycle, sleep", "id": "GO:0045187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045187", "evidence": [ { "database": "UniProtKB", "id": "M9PIH9", "url": 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"database": "UniProtKB", "id": "Q59E13", "url": "https://www.uniprot.org/uniprotkb/Q59E13" } ], "pmid": "" }, { "name": "sensory perception of chemical stimulus", "id": "GO:0007606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007606", "evidence": [ { "database": "UniProtKB", "id": "Q59E13", "url": "https://www.uniprot.org/uniprotkb/Q59E13" } ], "pmid": "" }, { "name": "store-operated calcium entry", "id": "GO:0002115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002115", "evidence": [ { "database": "UniProtKB", "id": "Q59E13", "url": "https://www.uniprot.org/uniprotkb/Q59E13" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q7KRS6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7KRS6", "url": "https://www.uniprot.org/uniprotkb/Q7KRS6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 857, "chemical_mass": 97169.0, "gene_names": "nompB;146590_s_at;CG12548;CG14465;CG15190;CG4137;Dmel\\CG12548;Dmel_CG12548;IFT88;NOMPB;NompB;OSM-5;Tg737;nompB;nomp;osm-5", "protein_name": "", "disease": [ { "disease_id": "DOID:0110861", "name": "autosomal recessive 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 recessive fashion.", "url": "https://disease-ontology.org/term/DOID:0110861", "evidence": [ { "id": "0110861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110861" } ], "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 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"https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q7KRZ3", "url": "https://www.uniprot.org/uniprotkb/Q7KRZ3" } ], "pmid": "" }, { "name": "exocyst", "id": "GO:0000145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000145", "evidence": [ { "database": "UniProtKB", "id": "Q7KRZ3", "url": "https://www.uniprot.org/uniprotkb/Q7KRZ3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q7KS23-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7KS23", "url": "https://www.uniprot.org/uniprotkb/Q7KS23" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 306, "chemical_mass": 35707.0, "gene_names": "Dmel\\CG33341;CG33341;Dmel\\CG33341;Dmel_CG33341", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": 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}, { "uniprot_canonical_ac": "Q9VGH9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VGH9", "url": "https://www.uniprot.org/uniprotkb/Q9VGH9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1993, "chemical_mass": 225091.0, "gene_names": "Sbf;13;CG6939;DSbf1;Dmel\\CG6939;Dmel_CG6939;MTMR5/13;SBF1;SBF;Sbf1;Sbf;dSbf1;sbf", "protein_name": "", "disease": [ { "disease_id": "DOID:0110190", "name": "Charcot-Marie-Tooth disease type 4B2", "description": "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the SBF2 gene.", "url": "https://disease-ontology.org/term/DOID:0110190", "evidence": [ { "id": "0110190", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110190" } ], "weight": 0.0 }, { "disease_id": "DOID:0110194", "name": "Charcot-Marie-Tooth disease type 4B3", "description": "A 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"name": "phosphatidylinositol 3-kinase catalytic subunit binding", "id": "GO:0036313", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036313", "evidence": [ { "database": "UniProtKB", "id": "Q9VGH9", "url": "https://www.uniprot.org/uniprotkb/Q9VGH9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VGH9", "url": "https://www.uniprot.org/uniprotkb/Q9VGH9" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q9VGH9", "url": "https://www.uniprot.org/uniprotkb/Q9VGH9" } ], "pmid": "" }, { "name": "transcription elongation factor complex", "id": "GO:0008023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008023", "evidence": [ { "database": "UniProtKB", "id": "Q9VGH9", "url": "https://www.uniprot.org/uniprotkb/Q9VGH9" } ], "pmid": "" }, 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"cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q7KT13", "url": "https://www.uniprot.org/uniprotkb/Q7KT13" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q7KT13", "url": "https://www.uniprot.org/uniprotkb/Q7KT13" } ], "pmid": "" } ], "molecular_function": [ { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "Q7KT13", "url": "https://www.uniprot.org/uniprotkb/Q7KT13" } ], "pmid": "" } ], "biological_process": [ { "name": "sensory perception of chemical stimulus", "id": "GO:0007606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007606", "evidence": [ { "database": "UniProtKB", "id": "Q7KT13", "url": 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"regulation of chitin-based cuticle tanning", "id": "GO:0007564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007564", "evidence": [ { "database": "UniProtKB", "id": "Q7KTA0", "url": "https://www.uniprot.org/uniprotkb/Q7KTA0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q7KTF6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7KTF6", "url": "https://www.uniprot.org/uniprotkb/Q7KTF6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1702, "chemical_mass": 191009.0, "gene_names": "Muc30E;CG33300;Dmel\\CG33300;Dmel_CG33300;Muc30E", "protein_name": "", "disease": [], "cellular_component": [ { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "Q7KTF6", "url": "https://www.uniprot.org/uniprotkb/Q7KTF6" } ], "pmid": "" } ], "molecular_function": [ { "name": "extracellular matrix structural constituent", "id": "GO:0005201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005201", "evidence": [ { "database": "UniProtKB", "id": "Q7KTF6", "url": "https://www.uniprot.org/uniprotkb/Q7KTF6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q7KTG6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7KTG6", "url": "https://www.uniprot.org/uniprotkb/Q7KTG6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1517, "chemical_mass": 168562.0, "gene_names": "CG18419;DmCG33298;CG13112;CG18419;CG33298;DmCG33298;Dmel\\CG33298;Dmel_CG33298", "protein_name": "Phospholipid-transporting ATPase", "disease": [ { 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"TFAM;CG4217;D-mtTFA;Dmel\\CG4217;Dmel_CG4217;DmtTFA;MTTFA;TFAM;Tfam;d-TFAM;d-mttfa;d-tfam;mtTFA;mttfa;tfam", "protein_name": "", "disease": [ { "disease_id": "DOID:0080337", "name": "mitochondrial DNA depletion syndrome 15", "description": "A mitochondrial DNA depletion syndrome that is characterized by severe intrauterine growth restriction, neonatal-onset hypoglycemia and liver dysfunction, mitochondrial DNA depletion in liver and skeletal muscle, and abnormal mitochondrial morphology observed in skeletal muscle and has_material_basis_in homozygous mutation in the TFAM gene on chromosome 10q21.", "url": "https://disease-ontology.org/term/DOID:0080337", "evidence": [ { "id": "0080337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080337" } ], "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: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 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], "biological_process": [ { "name": "transcription initiation at mitochondrial promoter", "id": "GO:0006391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006391", "evidence": [ { "database": "UniProtKB", "id": "Q86BR8", "url": "https://www.uniprot.org/uniprotkb/Q86BR8" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "Q86BR8", "url": "https://www.uniprot.org/uniprotkb/Q86BR8" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "Q86BR8", "url": "https://www.uniprot.org/uniprotkb/Q86BR8" } ], "pmid": "" } ], "molecular_function": [ { "name": "mitochondrial promoter sequence-specific DNA binding", "id": "GO:0001018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001018", "evidence": [ { "database": "UniProtKB", "id": "Q86BR8", 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"Q8IMK6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IMK6", "url": "https://www.uniprot.org/uniprotkb/Q8IMK6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 297, "chemical_mass": 33136.0, "gene_names": "Dmel\\CG15506;CG15506;Dmel\\CG15506;Dmel_CG15506", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q8IMQ2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IMQ2", "url": "https://www.uniprot.org/uniprotkb/Q8IMQ2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 882, "chemical_mass": 100246.0, "gene_names": "Nep5;CG6265;DmeNEP5;Dmel\\CG6265;Dmel_CG6265;NEP5;Nep5;nep5", "protein_name": 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"batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q8IMT0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IMT0", "url": "https://www.uniprot.org/uniprotkb/Q8IMT0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 265, "chemical_mass": 28326.0, "gene_names": "Dmel\\CG31437;CG31437;Dmel\\CG31437;Dmel_CG31437", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q8IMY4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IMY4", "url": "https://www.uniprot.org/uniprotkb/Q8IMY4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 561, "chemical_mass": 64603.0, "gene_names": "Qsox4;CG10299;CG31413;Dmel\\CG31413;Dmel_CG31413;QSox4;Qsox4", "protein_name": "Sulfhydryl oxidase", "disease": [ { "disease_id": "DOID:14679", "name": "VACTERL association", "description": "A syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.", "url": "https://disease-ontology.org/term/DOID:14679", "evidence": [ { "id": "14679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14679" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q8IMY4", "url": "https://www.uniprot.org/uniprotkb/Q8IMY4" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": 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"UniProtKB", "id": "Q8IMY4", "url": "https://www.uniprot.org/uniprotkb/Q8IMY4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q8IN10-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IN10", "url": "https://www.uniprot.org/uniprotkb/Q8IN10" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 595, "chemical_mass": 70041.0, "gene_names": "Ir94a;94a;CG31164;DmelIR94a;Dmel\\CG31164;Dmel_CG31164;IR94a;Ir94a", "protein_name": "", "disease": [], "biological_process": [ { "name": "detection of chemical stimulus", "id": "GO:0009593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009593", "evidence": [ { "database": "UniProtKB", "id": "Q8IN10", "url": "https://www.uniprot.org/uniprotkb/Q8IN10" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma 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"url": "https://www.uniprot.org/uniprotkb/Q8IND5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q8INQ8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8INQ8", "url": "https://www.uniprot.org/uniprotkb/Q8INQ8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 455, "chemical_mass": 50240.0, "gene_names": "CG11740;CG11740;CG31454;Dmel\\CG31454;Dmel_CG31454", "protein_name": "Transmembrane protein 135 N-terminal domain-containing protein", "disease": [], "cellular_component": [ { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "Q8INQ8", "url": "https://www.uniprot.org/uniprotkb/Q8INQ8" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", 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"Protein TsetseEP domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q8INS6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8INS6", "url": "https://www.uniprot.org/uniprotkb/Q8INS6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 301, "chemical_mass": 35384.0, "gene_names": "nxf4;BcDNA:AT07692;CG14604;CG31501;Dmel\\CG31501;Dmel_CG31501;nxf4", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q8INU1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8INU1", "url": "https://www.uniprot.org/uniprotkb/Q8INU1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 262, "chemical_mass": 30454.0, "gene_names": "Dmel\\CG31627;CG31627;Dmel\\CG31627;Dmel_CG31627;NEST:bs05g10", "protein_name": "MADF domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q8INY1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8INY1", "url": "https://www.uniprot.org/uniprotkb/Q8INY1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 737, "chemical_mass": 80331.0, "gene_names": "Socs36E;CG15154;Dmel\\CG15154;Dmel_CG15154;SCOS36E;SOCS36E;SOCS36;SOCS;SocS36E;Socs36E;Socs36e;Socs36;Socs;anon-EST:Liang-2.2;clone 2.2;dSOCS;dmSocs36E;socs36E;socs36e;socs60E1", "protein_name": "", "disease": [], "molecular_function": [ { "name": "sevenless binding", "id": 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"biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q9V9Y5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V9Y5", "url": "https://www.uniprot.org/uniprotkb/Q9V9Y5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 595, "chemical_mass": 67920.0, "gene_names": "ppk24;CG15555;Dmel\\CG15555;Dmel_CG15555;Ppk24;ppk24", "protein_name": "", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9V9Y5", "url": "https://www.uniprot.org/uniprotkb/Q9V9Y5" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9V9Y5", "url": 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"Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V9Y6", "url": "https://www.uniprot.org/uniprotkb/Q9V9Y6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 302, "chemical_mass": 34355.0, "gene_names": "CAH5;CAH5;CG18673;Dmel\\CG18673;Dmel_CG18673", "protein_name": "Carbonic anhydrase", "disease": [ { "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:0050997", "name": "cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome", "description": "A syndrome characterized by congenital onset of nonprogressive cerebellar 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"reference_species": "Drosophila melanogaster [7227]" } ], "length": 137, "chemical_mass": 15491.0, "gene_names": "Dmel\\CG15549;BcDNA:AT07554;CG15549;Dmel\\CG15549;Dmel_CG15549", "protein_name": "Transmembrane protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q9VAN4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VAN4", "url": "https://www.uniprot.org/uniprotkb/Q9VAN4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1320, "chemical_mass": 150101.0, "gene_names": "Dmel\\CG11898;CG11898;DmCG11898;Dme_CG11898;Dmel\\CG11898;Dmel_CG11898", "protein_name": "", "disease": [ { "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": 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], "pmid": "" }, { "name": "ABC-type transporter activity", "id": "GO:0140359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140359", "evidence": [ { "database": "UniProtKB", "id": "Q9VAN4", "url": "https://www.uniprot.org/uniprotkb/Q9VAN4" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VAN4", "url": "https://www.uniprot.org/uniprotkb/Q9VAN4" } ], "pmid": "" } ], "biological_process": [ { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q9VAN4", "url": "https://www.uniprot.org/uniprotkb/Q9VAN4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q9VAR6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VAR6", "url": "https://www.uniprot.org/uniprotkb/Q9VAR6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 413, "chemical_mass": 45292.0, "gene_names": "DIP-gamma;14521;CG14521;CT34248;DIP-gamma;DIPgamma;Dmel\\CG14521;Dmel_CG14521;anon-WO0140519.196", "protein_name": "", "disease": [ { "disease_id": "DOID:1070", "name": "primary open angle glaucoma", "description": "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure.", "url": "https://disease-ontology.org/term/DOID:1070", "evidence": [ { "id": "1070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1070" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:13223", "name": "uterine fibroid", "description": "An uterine benign neoplasm derived from the smooth muscle layer of the uterus.", "url": "https://disease-ontology.org/term/DOID:13223", "evidence": [ { "id": "13223", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13223" } ], "weight": 0.0 }, { "disease_id": "DOID:2152", "name": "ovary epithelial cancer", "description": "An ovarian cancer that is derives_from ovarian surface epithelium.", "url": "https://disease-ontology.org/term/DOID:2152", "evidence": [ { "id": "2152", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2152" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is 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"name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VAR6", "url": "https://www.uniprot.org/uniprotkb/Q9VAR6" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q9VAR6", "url": "https://www.uniprot.org/uniprotkb/Q9VAR6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q9VAS0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VAS0", "url": "https://www.uniprot.org/uniprotkb/Q9VAS0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 700, "chemical_mass": 81201.0, "gene_names": "Nepl20;CG14527;Dmel\\CG14527;Dmel_CG14527;Nepl20", 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"evidence": [ { "database": "UniProtKB", "id": "Q9VC80", "url": "https://www.uniprot.org/uniprotkb/Q9VC80" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 479, "chemical_mass": 54022.0, "gene_names": "Dmel\\CG17782;CG17782;Dmel\\CG17782;Dmel_CG17782", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q9VC81-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VC81", "url": "https://www.uniprot.org/uniprotkb/Q9VC81" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 348, "chemical_mass": 41352.0, "gene_names": "Dmel\\CG13614;CG13614;Dmel\\CG13614;Dmel_CG13614", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q9VCU3", "url": "https://www.uniprot.org/uniprotkb/Q9VCU3" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9VCU3", "url": "https://www.uniprot.org/uniprotkb/Q9VCU3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q9VCY1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VCY1", "url": "https://www.uniprot.org/uniprotkb/Q9VCY1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 356, "chemical_mass": 39561.0, "gene_names": "Dmel\\CG6937;CG6937;Dmel\\CG6937;Dmel_CG6937;NIFK;cg6937", "protein_name": "RRM domain-containing protein", 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"url": "https://www.uniprot.org/uniprotkb/Q9VDD5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 554, "chemical_mass": 62148.0, "gene_names": "cDIP;10824;CG10824;CT11359;DIPc;Dmel\\CG10824;Dmel_CG10824;cDIP", "protein_name": "", "disease": [ { "disease_id": "DOID:0060870", "name": "isolated growth hormone deficiency", "description": "A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones.", "url": "https://disease-ontology.org/term/DOID:0060870", "evidence": [ { "id": "0060870", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060870" } ], "weight": 0.0 }, { "disease_id": "DOID:0080552", "name": "congenital disorder of glycosylation Ia", "description": "A congenital disorder of glycosylation I that is characterized by a severe encephalopathy with axial hypotonia, abnormal 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"url": "https://www.uniprot.org/uniprotkb/Q9VDF6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 245, "chemical_mass": 27417.0, "gene_names": "Jhbp15;CG17279;Dmel\\CG17279;Dmel_CG17279;JHBP15;Jhbp15", "protein_name": "", "disease": [], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VDF6", "url": "https://www.uniprot.org/uniprotkb/Q9VDF6" } ], "pmid": "" } ], "biological_process": [ { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "Q9VDF6", "url": "https://www.uniprot.org/uniprotkb/Q9VDF6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q9VDU2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VDU2", "url": "https://www.uniprot.org/uniprotkb/Q9VDU2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 542, "chemical_mass": 59881.0, "gene_names": "Acsx2;Acsx2;CG11391;Dmel\\CG11391;Dmel_CG11391", "protein_name": "", "disease": [ { "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 } ], "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": "Q9VDU2", "url": 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"Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VDV8", "url": "https://www.uniprot.org/uniprotkb/Q9VDV8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 533, "chemical_mass": 59874.0, "gene_names": "Dmel\\CG17751;CG17751;Dmel\\CG17751;Dmel_CG17751", "protein_name": "Major facilitator superfamily (MFS) profile domain-containing protein", "disease": [ { "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:13619", "name": "extrahepatic cholestasis", "description": "A cholestasis resulting from causes located_in bile ducts outside the 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{ "name": "triacylglycerol lipase activity", "id": "GO:0004806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004806", "evidence": [ { "database": "UniProtKB", "id": "Q9VG48", "url": "https://www.uniprot.org/uniprotkb/Q9VG48" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q9VG50-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VG50", "url": "https://www.uniprot.org/uniprotkb/Q9VG50" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 389, "chemical_mass": 44002.0, "gene_names": "CG12294;CG12294;CG18530;Dmel\\CG18530;Dmel_CG18530", "protein_name": "Lipase", "disease": [], "biological_process": [ { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", 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"" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q9VH32-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VH32", "url": "https://www.uniprot.org/uniprotkb/Q9VH32" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 173, "chemical_mass": 19040.0, "gene_names": "Npc2d;CG12813;Dmel\\CG12813;Dmel_CG12813;Npc2d;npc2d", "protein_name": "", "disease": [ { "disease_id": "DOID:0070114", "name": "Niemann-Pick disease type C2", "description": "A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC2 gene on chromosome 14q24.3.", "url": "https://disease-ontology.org/term/DOID:0070114", "evidence": [ { "id": "0070114", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070114" } ], "weight": 0.0 }, { "disease_id": 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activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q9VHR4", "url": "https://www.uniprot.org/uniprotkb/Q9VHR4" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9VHR4", "url": "https://www.uniprot.org/uniprotkb/Q9VHR4" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q9VHR4", "url": "https://www.uniprot.org/uniprotkb/Q9VHR4" } ], "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": "Q9VHR4", "url": "https://www.uniprot.org/uniprotkb/Q9VHR4" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VHR4", "url": "https://www.uniprot.org/uniprotkb/Q9VHR4" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9VHR4", "url": "https://www.uniprot.org/uniprotkb/Q9VHR4" } ], "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": "Q9VHR4", "url": "https://www.uniprot.org/uniprotkb/Q9VHR4" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q9VHR4", "url": "https://www.uniprot.org/uniprotkb/Q9VHR4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q9VII7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VII7", "url": "https://www.uniprot.org/uniprotkb/Q9VII7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 372, "chemical_mass": 41687.0, "gene_names": "Spn38F;CG9334;Dmel\\CG9334;Dmel_CG9334;Sp3;Spn38F;Spn3;sp3", "protein_name": "", "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": 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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:0060186", "name": "chemical colitis", "description": "A colitis caused_by introduction of various chemicals.", "url": "https://disease-ontology.org/term/DOID:0060186", "evidence": [ { "id": "0060186", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060186" } ], "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:0060903", "name": "thrombosis", "description": "A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system.", "url": "https://disease-ontology.org/term/DOID:0060903", "evidence": [ { "id": "0060903", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060903" } ], "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:0070555", "name": "Nagashima-type palmoplantar keratosis", "description": "A nonepidermolytic palmoplantar keratoderma characterized by mild, well-demarcated, diffuse erythematous hyperkeratosis that is nonprogressive after the second decade of life which extends onto the dorsal surfaces of the palms and feet and the Achilles tendon area, with a high frequency of hyperhidrosis on the palms and soles and without flexion contractures or constricting bands that has_material_basis_in homozygous or compound heterozygous mutation in the SERPINB7 gene on chromosome 18q21.33.", "url": "https://disease-ontology.org/term/DOID:0070555", "evidence": [ { "id": "0070555", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070555" } ], "weight": 0.0 }, { "disease_id": "DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure.", "url": "https://disease-ontology.org/term/DOID:0080322", "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ], "weight": 0.0 }, { "disease_id": "DOID:0090030", "name": "corticosteroid-binding globulin deficiency", "description": "An adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that has_material_basis_in heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32.", "url": "https://disease-ontology.org/term/DOID:0090030", "evidence": [ { "id": "0090030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090030" } ], "weight": 0.0 }, { "disease_id": "DOID:10159", "name": "osteonecrosis", "description": "An ischemic bone disease that results_in necrosis located_in bone.", "url": "https://disease-ontology.org/term/DOID:10159", "evidence": [ { "id": "10159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10159" } ], "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: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:10762", "name": "portal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:10762", "evidence": [ { "id": "10762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ], "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:10952", "name": "nephritis", "description": "A kidney disease that is characterized by an inflammation of the kidneys.", "url": "https://disease-ontology.org/term/DOID:10952", "evidence": [ { "id": "10952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10952" } ], "weight": 0.0 }, { "disease_id": "DOID:11049", "name": "meconium aspiration syndrome", "description": "A lung disease that is characterized by a newborn breathing in a mixture of meconium and amniotic fluid into the lungs around the time of delivery.", "url": "https://disease-ontology.org/term/DOID:11049", "evidence": [ { "id": "11049", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11049" } ], "weight": 0.0 }, { "disease_id": "DOID:11111", "name": "hydronephrosis", "description": "An urinary system disease that is characterized by swelling of one or both kidneys due to incomplete voiding of urine.", "url": "https://disease-ontology.org/term/DOID:11111", "evidence": [ { "id": "11111", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11111" } ], "weight": 0.0 }, { "disease_id": "DOID:11123", "name": "IgA vasculitis", "description": "A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection.", "url": "https://disease-ontology.org/term/DOID:11123", "evidence": [ { "id": "11123", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11123" } ], "weight": 0.0 }, { "disease_id": "DOID:11247", "name": "disseminated intravascular coagulation", "description": "", "url": "https://disease-ontology.org/term/DOID:11247", "evidence": [ { "id": "11247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11247" } ], "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:11396", "name": "pulmonary edema", "description": "A respiratory failure that is characterized by the accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure.", "url": "https://disease-ontology.org/term/DOID:11396", "evidence": [ { "id": "11396", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11396" } ], "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:11716", "name": "prediabetes syndrome", "description": "A glucose metabolism disease that is characterized by blood glucose levels are high, but not high enough to be classified as type 2 diabetes.", "url": "https://disease-ontology.org/term/DOID:11716", "evidence": [ { "id": "11716", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11716" } ], "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:11949", "name": "Creutzfeldt-Jakob disease", "description": "", "url": "https://disease-ontology.org/term/DOID:11949", "evidence": [ { "id": "11949", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11949" } ], "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: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:12185", "name": "otosclerosis", "description": "An otitis interna characterized by isolated endochondral bone sclerosis of the labyrinthine capsule.", "url": "https://disease-ontology.org/term/DOID:12185", "evidence": [ { "id": "12185", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12185" } ], "weight": 0.0 }, { "disease_id": "DOID:12236", "name": "primary biliary cholangitis", "description": "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.", "url": "https://disease-ontology.org/term/DOID:12236", "evidence": [ { "id": "12236", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12236" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:13025", "name": "retinopathy of prematurity", "description": "", "url": "https://disease-ontology.org/term/DOID:13025", "evidence": [ { "id": "13025", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13025" } ], "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: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:13372", "name": "alpha 1-antitrypsin deficiency", "description": "A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells.", "url": "https://disease-ontology.org/term/DOID:13372", "evidence": [ { "id": "13372", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13372" } ], "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: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:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22.", "url": "https://disease-ontology.org/term/DOID:14499", "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ], "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: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: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: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:2018", "name": "hyperinsulinism", "description": "", "url": "https://disease-ontology.org/term/DOID:2018", "evidence": [ { "id": "2018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2018" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2450", "name": "central retinal vein occlusion", "description": "", "url": "https://disease-ontology.org/term/DOID:2450", "evidence": [ { "id": "2450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2450" } ], "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:2913", "name": "acute pancreatitis", "description": "A pancreatitis that is characterized by inflammation of the pancreas over a short period of time and has symptoms of severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock.", "url": "https://disease-ontology.org/term/DOID:2913", "evidence": [ { "id": "2913", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2913" } ], "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: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: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:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3328", "name": "temporal lobe epilepsy", "description": "A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.", "url": "https://disease-ontology.org/term/DOID:3328", "evidence": [ { "id": "3328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3328" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3755", "name": "antithrombin III deficiency", "description": "A thrombophilia that is characterized by the tendency to form clots in the veins.", "url": "https://disease-ontology.org/term/DOID:3755", "evidence": [ { "id": "3755", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3755" } ], "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: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:409", "name": "liver disease", "description": "", "url": "https://disease-ontology.org/term/DOID:409", "evidence": [ { "id": "409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:409" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "weight": 0.0 }, { "disease_id": "DOID:4780", "name": "anti-basement membrane glomerulonephritis", "description": "A Goodpasture syndrome that is characterized by damage to only kidney capillaries.", "url": "https://disease-ontology.org/term/DOID:4780", "evidence": [ { "id": "4780", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4780" } ], "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: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:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:6713", "name": "cerebrovascular disease", "description": "An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain.", "url": "https://disease-ontology.org/term/DOID:6713", "evidence": [ { "id": "6713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6713" } ], "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: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:865", "name": "vasculitis", "description": "A vascular disease that is characterized by inflammation of the blood vessels.", "url": "https://disease-ontology.org/term/DOID:865", "evidence": [ { "id": "865", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:865" } ], "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:8923", "name": "skin melanoma", "description": "A skin cancer that has_material_basis_in melanocytes.", "url": "https://disease-ontology.org/term/DOID:8923", "evidence": [ { "id": "8923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8923" } ], "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: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:988", "name": "mitral valve prolapse", "description": "A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole.", "url": "https://disease-ontology.org/term/DOID:988", "evidence": [ { "id": "988", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:988" } ], "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": "insemination", "id": "GO:0007320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007320", "evidence": [ { "database": "UniProtKB", "id": "Q9VII7", "url": "https://www.uniprot.org/uniprotkb/Q9VII7" } ], "pmid": "" }, { "name": "defense response to Gram-negative bacterium", "id": "GO:0050829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050829", "evidence": [ { "database": "UniProtKB", "id": "Q9VII7", "url": "https://www.uniprot.org/uniprotkb/Q9VII7" } ], "pmid": "" }, { "name": "negative regulation of proteolysis", "id": "GO:0045861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045861", "evidence": [ { "database": "UniProtKB", "id": "Q9VII7", "url": "https://www.uniprot.org/uniprotkb/Q9VII7" } ], "pmid": "" }, { "name": "mating", "id": "GO:0007618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007618", "evidence": [ { "database": "UniProtKB", "id": "Q9VII7", "url": "https://www.uniprot.org/uniprotkb/Q9VII7" } ], "pmid": "" } ], "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": "Q9VII7", "url": "https://www.uniprot.org/uniprotkb/Q9VII7" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VII7", "url": "https://www.uniprot.org/uniprotkb/Q9VII7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q9VIJ1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VIJ1", "url": "https://www.uniprot.org/uniprotkb/Q9VIJ1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 198, "chemical_mass": 22652.0, "gene_names": "CheB38c;CG14405;CheB38c;Dmel\\CG14405;Dmel_CG14405", "protein_name": "", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9VIJ1", "url": "https://www.uniprot.org/uniprotkb/Q9VIJ1" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VIJ1", "url": "https://www.uniprot.org/uniprotkb/Q9VIJ1" } ], "pmid": "" } ], "molecular_function": [ { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "Q9VIJ1", "url": "https://www.uniprot.org/uniprotkb/Q9VIJ1" } ], "pmid": "" } ], "biological_process": [ { "name": "sensory perception of chemical stimulus", "id": "GO:0007606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007606", "evidence": [ { "database": "UniProtKB", "id": "Q9VIJ1", "url": "https://www.uniprot.org/uniprotkb/Q9VIJ1" } ], "pmid": "" }, { "name": "detection of pheromone", "id": "GO:0043695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043695", "evidence": [ { "database": "UniProtKB", "id": "Q9VIJ1", "url": "https://www.uniprot.org/uniprotkb/Q9VIJ1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q9VIS5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VIS5", "url": "https://www.uniprot.org/uniprotkb/Q9VIS5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } 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"site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 200, "start_aa": "Thr", "end_pos": 200, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr200", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q9VJP6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VJP6", "url": "https://www.uniprot.org/uniprotkb/Q9VJP6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 230, "chemical_mass": 26424.0, "gene_names": "BG:DS07851.8;BG:DS07851.8;CG15260;Dmel\\CG15260;Dmel_CG15260", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q9VJR8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VJR8", "url": "https://www.uniprot.org/uniprotkb/Q9VJR8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 299, "chemical_mass": 33289.0, "gene_names": "Dmel\\CG4650;CG4650;Dmel\\CG4650;Dmel_CG4650;SPH197", "protein_name": "Peptidase S1 domain-containing protein", "disease": [], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VJR8", "url": "https://www.uniprot.org/uniprotkb/Q9VJR8" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q9VJR8", "url": 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"chemical_mass": 71133.0, "gene_names": "Ance-2;Ance-2;CG16869;CG31844;Dmel\\CG16869;Dmel_CG16869;ance-2", "protein_name": "Angiotensin-converting enzyme", "disease": [ { "disease_id": "DOID:0050152", "name": "aspiration pneumonia", "description": "A bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. It is seen in individuals with dysphagia and gastric dysmotility. The disease has_symptom tachypnea and has_symptom cough.", "url": "https://disease-ontology.org/term/DOID:0050152", "evidence": [ { "id": "0050152", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050152" } ], "weight": 0.0 }, { "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: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: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: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: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: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: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: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: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:10952", "name": "nephritis", "description": "A kidney disease that is characterized by an inflammation of the kidneys.", "url": "https://disease-ontology.org/term/DOID:10952", "evidence": [ { "id": "10952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10952" } ], "weight": 0.0 }, { "disease_id": "DOID:11123", "name": "IgA vasculitis", "description": "A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection.", "url": "https://disease-ontology.org/term/DOID:11123", "evidence": [ { "id": "11123", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11123" } ], "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: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:11713", "name": "diabetic angiopathy", "description": "A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes.", "url": "https://disease-ontology.org/term/DOID:11713", "evidence": [ { "id": "11713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11713" } ], "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: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:12549", "name": "hepatitis A", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus (Hepatovirus ahepa), which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected 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:12549", "evidence": [ { "id": "12549", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12549" } ], "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: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: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: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:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22.", "url": "https://disease-ontology.org/term/DOID:14499", "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ], "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: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: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: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: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: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:3500", "name": "gallbladder adenocarcinoma", "description": "A gallbladder carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3500", "evidence": [ { "id": "3500", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3500" } ], "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: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: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:4079", "name": "heart valve disease", "description": "A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right).", "url": "https://disease-ontology.org/term/DOID:4079", "evidence": [ { "id": "4079", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4079" } ], "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: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: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. 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"Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1007, "chemical_mass": 114947.0, "gene_names": "LManVI;CG9468;Dmel\\CG9468;Dmel_CG9468;LManVI", "protein_name": "Alpha-mannosidase", "disease": [ { "disease_id": "DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome.", "url": "https://disease-ontology.org/term/DOID:3413", "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9VLH9", "url": "https://www.uniprot.org/uniprotkb/Q9VLH9" } ], "pmid": "" }, { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "Q9VLH9", "url": "https://www.uniprot.org/uniprotkb/Q9VLH9" } ], "pmid": "" }, { "name": "alpha-mannosidase activity", "id": "GO:0004559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004559", "evidence": [ { "database": "UniProtKB", "id": "Q9VLH9", "url": "https://www.uniprot.org/uniprotkb/Q9VLH9" } ], "pmid": "" } ], "cellular_component": [ { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q9VLH9", "url": "https://www.uniprot.org/uniprotkb/Q9VLH9" } ], "pmid": "" } ], "biological_process": [ { "name": "mannose metabolic process", "id": "GO:0006013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006013", "evidence": [ { "database": "UniProtKB", "id": "Q9VLH9", "url": "https://www.uniprot.org/uniprotkb/Q9VLH9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q9VLI1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLI1", "url": "https://www.uniprot.org/uniprotkb/Q9VLI1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 978, "chemical_mass": 111621.0, "gene_names": "LManIV;CG9465;Dmel\\CG9465;Dmel_CG9465;LManIV", "protein_name": "Alpha-mannosidase", "disease": [ { "disease_id": "DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome.", "url": "https://disease-ontology.org/term/DOID:3413", "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9VLI1", "url": "https://www.uniprot.org/uniprotkb/Q9VLI1" } ], "pmid": "" }, { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "Q9VLI1", "url": "https://www.uniprot.org/uniprotkb/Q9VLI1" } ], "pmid": "" }, { "name": "alpha-mannosidase activity", "id": "GO:0004559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004559", "evidence": [ { "database": "UniProtKB", "id": "Q9VLI1", "url": "https://www.uniprot.org/uniprotkb/Q9VLI1" } ], "pmid": "" } ], "cellular_component": [ { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q9VLI1", "url": "https://www.uniprot.org/uniprotkb/Q9VLI1" } ], "pmid": "" } ], "biological_process": [ { "name": "mannose metabolic process", "id": "GO:0006013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006013", "evidence": [ { "database": "UniProtKB", "id": "Q9VLI1", "url": "https://www.uniprot.org/uniprotkb/Q9VLI1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q9VLJ2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLJ2", "url": "https://www.uniprot.org/uniprotkb/Q9VLJ2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 625, "chemical_mass": 70800.0, "gene_names": "Dmel\\CG9287;CG9287;Dmel\\CG9287;Dmel_CG9287", "protein_name": "Carboxylesterase type B domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q9VLL8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLL8", "url": "https://www.uniprot.org/uniprotkb/Q9VLL8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 92, "chemical_mass": 10271.0, "gene_names": "Peritrophin-15a;CG17814;CT39472;Dm15a;Dmel\\CG17814;Dmel_CG17814;Peritrophin-15A;Peritrophin-15a;peritrophin-15a", "protein_name": "", "disease": [], "molecular_function": [ { "name": "chitin binding", "id": "GO:0008061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008061", "evidence": [ { "database": "UniProtKB", "id": "Q9VLL8", "url": "https://www.uniprot.org/uniprotkb/Q9VLL8" } ], "pmid": "" }, { "name": "structural constituent of peritrophic membrane", "id": "GO:0016490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016490", "evidence": [ { "database": "UniProtKB", "id": "Q9VLL8", "url": "https://www.uniprot.org/uniprotkb/Q9VLL8" } ], "pmid": "" } ], "cellular_component": [ { "name": "chitin-based extracellular matrix", "id": "GO:0062129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062129", "evidence": [ { "database": "UniProtKB", "id": "Q9VLL8", "url": "https://www.uniprot.org/uniprotkb/Q9VLL8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q9VLQ7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLQ7", "url": "https://www.uniprot.org/uniprotkb/Q9VLQ7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 375, "chemical_mass": 42563.0, "gene_names": "Spn28F;CG8137;Dmel\\CG8137;Dmel_CG8137;Sp2;Spn28F;Spn2;sp2;spn2", "protein_name": "", "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:0050831", "name": "familial encephalopathy with neuroserpin inclusion bodies", "description": "A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern.", "url": "https://disease-ontology.org/term/DOID:0050831", "evidence": [ { "id": "0050831", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050831" } ], "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:0060186", "name": "chemical colitis", "description": "A colitis caused_by introduction of various chemicals.", "url": "https://disease-ontology.org/term/DOID:0060186", "evidence": [ { "id": "0060186", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060186" } ], "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:0060903", "name": "thrombosis", "description": "A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system.", "url": "https://disease-ontology.org/term/DOID:0060903", "evidence": [ { "id": "0060903", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060903" } ], "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:0070555", "name": "Nagashima-type palmoplantar keratosis", "description": "A nonepidermolytic palmoplantar keratoderma characterized by mild, well-demarcated, diffuse erythematous hyperkeratosis that is nonprogressive after the second decade of life which extends onto the dorsal surfaces of the palms and feet and the Achilles tendon area, with a high frequency of hyperhidrosis on the palms and soles and without flexion contractures or constricting bands that has_material_basis_in homozygous or compound heterozygous mutation in the SERPINB7 gene on chromosome 18q21.33.", "url": "https://disease-ontology.org/term/DOID:0070555", "evidence": [ { "id": "0070555", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070555" } ], "weight": 0.0 }, { "disease_id": "DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure.", "url": "https://disease-ontology.org/term/DOID:0080322", "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ], "weight": 0.0 }, { "disease_id": "DOID:0090030", "name": "corticosteroid-binding globulin deficiency", "description": "An adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that has_material_basis_in heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32.", "url": "https://disease-ontology.org/term/DOID:0090030", "evidence": [ { "id": "0090030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090030" } ], "weight": 0.0 }, { "disease_id": "DOID:10159", "name": "osteonecrosis", "description": "An ischemic bone disease that results_in necrosis located_in bone.", "url": "https://disease-ontology.org/term/DOID:10159", "evidence": [ { "id": "10159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10159" } ], "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: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:10762", "name": "portal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:10762", "evidence": [ { "id": "10762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ], "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:10952", "name": "nephritis", "description": "A kidney disease that is characterized by an inflammation of the kidneys.", "url": "https://disease-ontology.org/term/DOID:10952", "evidence": [ { "id": "10952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10952" } ], "weight": 0.0 }, { "disease_id": "DOID:11049", "name": "meconium aspiration syndrome", "description": "A lung disease that is characterized by a newborn breathing in a mixture of meconium and amniotic fluid into the lungs around the time of delivery.", "url": "https://disease-ontology.org/term/DOID:11049", "evidence": [ { "id": "11049", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11049" } ], "weight": 0.0 }, { "disease_id": "DOID:11111", "name": "hydronephrosis", "description": "An urinary system disease that is characterized by swelling of one or both kidneys due to incomplete voiding of urine.", "url": "https://disease-ontology.org/term/DOID:11111", "evidence": [ { "id": "11111", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11111" } ], "weight": 0.0 }, { "disease_id": "DOID:11123", "name": "IgA vasculitis", "description": "A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection.", "url": "https://disease-ontology.org/term/DOID:11123", "evidence": [ { "id": "11123", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11123" } ], "weight": 0.0 }, { "disease_id": "DOID:11247", "name": "disseminated intravascular coagulation", "description": "", "url": "https://disease-ontology.org/term/DOID:11247", "evidence": [ { "id": "11247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11247" } ], "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:11396", "name": "pulmonary edema", "description": "A respiratory failure that is characterized by the accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure.", "url": "https://disease-ontology.org/term/DOID:11396", "evidence": [ { "id": "11396", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11396" } ], "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:11716", "name": "prediabetes syndrome", "description": "A glucose metabolism disease that is characterized by blood glucose levels are high, but not high enough to be classified as type 2 diabetes.", "url": "https://disease-ontology.org/term/DOID:11716", "evidence": [ { "id": "11716", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11716" } ], "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:11949", "name": "Creutzfeldt-Jakob disease", "description": "", "url": "https://disease-ontology.org/term/DOID:11949", "evidence": [ { "id": "11949", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11949" } ], "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: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:12185", "name": "otosclerosis", "description": "An otitis interna characterized by isolated endochondral bone sclerosis of the labyrinthine capsule.", "url": "https://disease-ontology.org/term/DOID:12185", "evidence": [ { "id": "12185", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12185" } ], "weight": 0.0 }, { "disease_id": "DOID:12236", "name": "primary biliary cholangitis", "description": "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.", "url": "https://disease-ontology.org/term/DOID:12236", "evidence": [ { "id": "12236", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12236" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:13025", "name": "retinopathy of prematurity", "description": "", "url": "https://disease-ontology.org/term/DOID:13025", "evidence": [ { "id": "13025", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13025" } ], "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: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:13372", "name": "alpha 1-antitrypsin deficiency", "description": "A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells.", "url": "https://disease-ontology.org/term/DOID:13372", "evidence": [ { "id": "13372", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13372" } ], "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: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:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22.", "url": "https://disease-ontology.org/term/DOID:14499", "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ], "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: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: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: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:2018", "name": "hyperinsulinism", "description": "", "url": "https://disease-ontology.org/term/DOID:2018", "evidence": [ { "id": "2018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2018" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2450", "name": "central retinal vein occlusion", "description": "", "url": "https://disease-ontology.org/term/DOID:2450", "evidence": [ { "id": "2450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2450" } ], "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:2913", "name": "acute pancreatitis", "description": "A pancreatitis that is characterized by inflammation of the pancreas over a short period of time and has symptoms of severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock.", "url": "https://disease-ontology.org/term/DOID:2913", "evidence": [ { "id": "2913", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2913" } ], "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: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: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:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3328", "name": "temporal lobe epilepsy", "description": "A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.", "url": "https://disease-ontology.org/term/DOID:3328", "evidence": [ { "id": "3328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3328" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3755", "name": "antithrombin III deficiency", "description": "A thrombophilia that is characterized by the tendency to form clots in the veins.", "url": "https://disease-ontology.org/term/DOID:3755", "evidence": [ { "id": "3755", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3755" } ], "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: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:409", "name": "liver disease", "description": "", "url": "https://disease-ontology.org/term/DOID:409", "evidence": [ { "id": "409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:409" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "weight": 0.0 }, { "disease_id": "DOID:4780", "name": "anti-basement membrane glomerulonephritis", "description": "A Goodpasture syndrome that is characterized by damage to only kidney capillaries.", "url": "https://disease-ontology.org/term/DOID:4780", "evidence": [ { "id": "4780", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4780" } ], "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: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:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:6713", "name": "cerebrovascular disease", "description": "An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain.", "url": "https://disease-ontology.org/term/DOID:6713", "evidence": [ { "id": "6713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6713" } ], "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: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:865", "name": "vasculitis", "description": "A vascular disease that is characterized by inflammation of the blood vessels.", "url": "https://disease-ontology.org/term/DOID:865", "evidence": [ { "id": "865", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:865" } ], "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:8923", "name": "skin melanoma", "description": "A skin cancer that has_material_basis_in melanocytes.", "url": "https://disease-ontology.org/term/DOID:8923", "evidence": [ { "id": "8923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8923" } ], "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: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:988", "name": "mitral valve prolapse", "description": "A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole.", "url": "https://disease-ontology.org/term/DOID:988", "evidence": [ { "id": "988", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:988" } ], "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": "insemination", "id": "GO:0007320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007320", "evidence": [ { "database": "UniProtKB", "id": "Q9VLQ7", "url": "https://www.uniprot.org/uniprotkb/Q9VLQ7" } ], "pmid": "" }, { "name": "negative regulation of proteolysis", "id": "GO:0045861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045861", "evidence": [ { "database": "UniProtKB", "id": "Q9VLQ7", "url": "https://www.uniprot.org/uniprotkb/Q9VLQ7" } ], "pmid": "" }, { "name": "mating", "id": "GO:0007618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007618", "evidence": [ { "database": "UniProtKB", "id": "Q9VLQ7", "url": "https://www.uniprot.org/uniprotkb/Q9VLQ7" } ], "pmid": "" } ], "molecular_function": [ { "name": "serine-type endopeptidase inhibitor activity", "id": 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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: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": "glutamate-gated calcium ion channel activity", "id": "GO:0022849", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022849", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP3", "url": "https://www.uniprot.org/uniprotkb/Q9VMP3" } ], "pmid": "" }, { "name": 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"url": "https://www.uniprot.org/uniprotkb/Q9VMP3" } ], "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": "Q9VMP3", "url": "https://www.uniprot.org/uniprotkb/Q9VMP3" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP3", "url": "https://www.uniprot.org/uniprotkb/Q9VMP3" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP3", "url": "https://www.uniprot.org/uniprotkb/Q9VMP3" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP3", "url": 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"Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VMP5", "url": "https://www.uniprot.org/uniprotkb/Q9VMP5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 238, "chemical_mass": 27408.0, "gene_names": "Dmel\\CG14017;CG14017;Dmel\\CG14017;Dmel_CG14017", "protein_name": "Cilia- and flagella-associated protein 299", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP5", "url": "https://www.uniprot.org/uniprotkb/Q9VMP5" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP5", "url": "https://www.uniprot.org/uniprotkb/Q9VMP5" } ], "pmid": "" } ], "biological_process": [ { "name": "motile cilium assembly", "id": 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"protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VN31", "url": "https://www.uniprot.org/uniprotkb/Q9VN31" } ], "pmid": "" }, { "name": "mRNA cleavage and polyadenylation specificity factor complex", "id": "GO:0005847", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005847", "evidence": [ { "database": "UniProtKB", "id": "Q9VN31", "url": "https://www.uniprot.org/uniprotkb/Q9VN31" } ], "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": "Q9VN31", "url": "https://www.uniprot.org/uniprotkb/Q9VN31" } ], "pmid": "" }, { "name": "mRNA 3'-end processing by stem-loop binding and cleavage", "id": "GO:0006398", "url": 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"cellular_component": [ { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "Q9VN36", "url": "https://www.uniprot.org/uniprotkb/Q9VN36" } ], "pmid": "" } ], "molecular_function": [ { "name": "extracellular matrix structural constituent", "id": "GO:0005201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005201", "evidence": [ { "database": "UniProtKB", "id": "Q9VN36", "url": "https://www.uniprot.org/uniprotkb/Q9VN36" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q9VNQ5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VNQ5", "url": "https://www.uniprot.org/uniprotkb/Q9VNQ5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 152, "chemical_mass": 16007.0, "gene_names": "Dmel\\CG13239;CG13239;Dmel\\CG13239;Dmel_CG13239", "protein_name": "DUF4794 domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q9VNW4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VNW4", "url": "https://www.uniprot.org/uniprotkb/Q9VNW4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 533, "chemical_mass": 61946.0, "gene_names": "G6pdl;CG7140;Dmel\\CG7140;Dmel_CG7140", "protein_name": "Glucose-6-phosphate 1-dehydrogenase", "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": 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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:12365", "name": "malaria", "description": "A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle.", "url": "https://disease-ontology.org/term/DOID:12365", "evidence": [ { "id": "12365", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12365" } ], "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: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:13628", "name": "favism", "description": "A glucosephosphate dehydrogenase deficiency characterized by a hemolytic reaction to consumption of broad beans.", "url": "https://disease-ontology.org/term/DOID:13628", "evidence": [ { "id": "13628", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13628" } ], "weight": 0.0 }, { "disease_id": "DOID:14067", "name": "Plasmodium falciparum malaria", "description": "A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever.", "url": "https://disease-ontology.org/term/DOID:14067", "evidence": [ { "id": "14067", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14067" } ], "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: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: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:2383", "name": "neonatal jaundice", "description": "A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant.", "url": "https://disease-ontology.org/term/DOID:2383", "evidence": [ { "id": "2383", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2383" } ], "weight": 0.0 }, { "disease_id": "DOID:2861", "name": "congenital nonspherocytic hemolytic anemia", "description": "", "url": "https://disease-ontology.org/term/DOID:2861", "evidence": [ { "id": "2861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2861" } ], "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: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: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:6713", "name": "cerebrovascular disease", "description": "An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain.", "url": "https://disease-ontology.org/term/DOID:6713", "evidence": [ { "id": "6713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6713" } ], "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: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: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: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:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by 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"uniprot_canonical_ac": "Q9VPT6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VPT6", "url": "https://www.uniprot.org/uniprotkb/Q9VPT6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 263, "chemical_mass": 30421.0, "gene_names": "Dmel\\CG15880;CG15880;Dmel\\CG15880;Dmel_CG15880", "protein_name": "CWH43-like N-terminal domain-containing protein", "disease": [], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q9VPT6", "url": "https://www.uniprot.org/uniprotkb/Q9VPT6" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9VPT6", "url": "https://www.uniprot.org/uniprotkb/Q9VPT6" } ], "pmid": "" } ], "biological_process": [ { "name": "GPI anchor biosynthetic process", "id": "GO:0006506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006506", "evidence": [ { "database": "UniProtKB", "id": "Q9VPT6", "url": "https://www.uniprot.org/uniprotkb/Q9VPT6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q9VQ46-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQ46", "url": "https://www.uniprot.org/uniprotkb/Q9VQ46" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 201, "chemical_mass": 21935.0, "gene_names": "c-cup;CG15623;Dmel\\CG15623;Dmel_CG15623;c-cup", "protein_name": "", "disease": [], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": 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"batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q9VQ68-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQ68", "url": "https://www.uniprot.org/uniprotkb/Q9VQ68" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 994, "chemical_mass": 109481.0, "gene_names": "Dmel\\CG42296;CG15378;CG42296;Dmel\\CG42296;Dmel_CG42296", "protein_name": "Chitin-binding type-2 domain-containing protein", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ68", "url": "https://www.uniprot.org/uniprotkb/Q9VQ68" } ], "pmid": "" }, { "name": "external encapsulating structure", "id": "GO:0030312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030312", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ68", "url": 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"name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQS4", "url": "https://www.uniprot.org/uniprotkb/Q9VQS4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 781, "chemical_mass": 88609.0, "gene_names": "Spindly;CG15415;Dmel\\CG15415;Dmel_CG15415;Spindly;spindly", "protein_name": "", "disease": [], "cellular_component": [ { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q9VQS4", "url": "https://www.uniprot.org/uniprotkb/Q9VQS4" } ], "pmid": "" }, { "name": "kinetochore", "id": "GO:0000776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000776", "evidence": [ { "database": "UniProtKB", "id": "Q9VQS4", "url": "https://www.uniprot.org/uniprotkb/Q9VQS4" } ], "pmid": "" } ], "biological_process": [ { "name": "mitotic spindle assembly checkpoint signaling", "id": 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"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": "Q9VQU0", "url": "https://www.uniprot.org/uniprotkb/Q9VQU0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q9VR49-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VR49", "url": "https://www.uniprot.org/uniprotkb/Q9VR49" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1286, "chemical_mass": 134908.0, "gene_names": "Sgs1;CG3047;Dmel\\CG3047;Dmel_CG3047;Muc25B;SGS1;Sgs-1;Sgs1;Sgs;sgs-1;sgs1;sgs", "protein_name": "", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9VR49", "url": "https://www.uniprot.org/uniprotkb/Q9VR49" } ], "pmid": "" } ], "biological_process": [ { "name": "puparial adhesion", "id": "GO:0007594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007594", "evidence": [ { "database": "UniProtKB", "id": "Q9VR49", "url": "https://www.uniprot.org/uniprotkb/Q9VR49" } ], "pmid": "" } ], "molecular_function": [ { "name": "bioadhesive activity", "id": "GO:0140073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140073", "evidence": [ { "database": "UniProtKB", "id": "Q9VR49", "url": "https://www.uniprot.org/uniprotkb/Q9VR49" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VR49-1", "start_pos": "204", "end_pos": "204", "site_lbl": "Thr204", "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": 204, "start_aa": "Thr", "end_pos": 204, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr204", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q9VR90-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VR90", "url": "https://www.uniprot.org/uniprotkb/Q9VR90" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 352, "chemical_mass": 40399.0, "gene_names": "Syx16;CG1467;Dm Syx16;DmSyx16;Dmel\\CG1467;Dmel_CG1467;SYX16;Syx16;Syx;dStx16;dSyx 16;dSyx16", "protein_name": "", "disease": [ { "disease_id": "DOID:0080222", "name": "pseudohypoparathyroidism type 1B", "description": "A pseudohypoparathyroidism characterized by isolated renal parathyroid hormone (PTH) resistance resulting in hypocalcemia, hyperphosphatemia and elevated PTH levels that has_material_basis_in mutations that alter the methylation pattern of GNAS on 20q13.32. Mutations in GNAS, GNAS-AS1, and STX16 have been shown to alter the methylation pattern of GNAS.", "url": "https://disease-ontology.org/term/DOID:0080222", "evidence": [ { "id": "0080222", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080222" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q9VR90", "url": "https://www.uniprot.org/uniprotkb/Q9VR90" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9VR90", "url": "https://www.uniprot.org/uniprotkb/Q9VR90" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VR90", "url": "https://www.uniprot.org/uniprotkb/Q9VR90" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VR90", "url": "https://www.uniprot.org/uniprotkb/Q9VR90" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q9VR90", "url": "https://www.uniprot.org/uniprotkb/Q9VR90" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q9VR90", "url": "https://www.uniprot.org/uniprotkb/Q9VR90" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q9VR90", "url": "https://www.uniprot.org/uniprotkb/Q9VR90" } ], "pmid": "" }, { "name": "SNARE complex", "id": "GO:0031201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031201", "evidence": [ { "database": "UniProtKB", "id": "Q9VR90", "url": "https://www.uniprot.org/uniprotkb/Q9VR90" } ], "pmid": "" }, { "name": "Golgi trans cisterna", "id": "GO:0000138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000138", "evidence": [ { "database": "UniProtKB", "id": "Q9VR90", "url": "https://www.uniprot.org/uniprotkb/Q9VR90" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "Q9VR90", "url": "https://www.uniprot.org/uniprotkb/Q9VR90" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "Q9VR90", "url": "https://www.uniprot.org/uniprotkb/Q9VR90" } ], "pmid": "" }, { "name": "neurotransmitter secretion", "id": "GO:0007269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007269", "evidence": [ { "database": "UniProtKB", "id": "Q9VR90", "url": "https://www.uniprot.org/uniprotkb/Q9VR90" } ], "pmid": "" }, { "name": "Golgi vesicle transport", "id": "GO:0048193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048193", "evidence": [ { "database": "UniProtKB", "id": "Q9VR90", "url": "https://www.uniprot.org/uniprotkb/Q9VR90" } ], "pmid": "" }, { "name": "vesicle fusion", "id": "GO:0006906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006906", "evidence": [ { "database": "UniProtKB", "id": "Q9VR90", "url": "https://www.uniprot.org/uniprotkb/Q9VR90" } ], "pmid": "" }, { "name": "synaptic vesicle docking", "id": "GO:0016081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016081", "evidence": [ { "database": "UniProtKB", "id": "Q9VR90", "url": "https://www.uniprot.org/uniprotkb/Q9VR90" } ], "pmid": "" }, { "name": "vesicle docking", "id": "GO:0048278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048278", "evidence": [ { "database": "UniProtKB", "id": "Q9VR90", "url": "https://www.uniprot.org/uniprotkb/Q9VR90" } ], "pmid": "" } ], "molecular_function": [ { "name": "SNARE binding", "id": "GO:0000149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000149", "evidence": [ { "database": "UniProtKB", "id": "Q9VR90", "url": "https://www.uniprot.org/uniprotkb/Q9VR90" } ], "pmid": "" }, { "name": "SNAP receptor activity", "id": "GO:0005484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005484", "evidence": [ { "database": "UniProtKB", "id": "Q9VR90", "url": "https://www.uniprot.org/uniprotkb/Q9VR90" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q9VRA9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRA9", "url": "https://www.uniprot.org/uniprotkb/Q9VRA9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 663, "chemical_mass": 70326.0, "gene_names": "RunxB;CG15454;CG15455;CG42267;Dmel\\CG42267;Dmel_CG42267;RUNXB;RunxB", "protein_name": "", "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: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: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:0060037", "name": "developmental disorder of mental health", "description": "A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development.", "url": "https://disease-ontology.org/term/DOID:0060037", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ], "weight": 0.0 }, { "disease_id": "DOID:0060250", "name": "idiopathic scoliosis", "description": "A scoliosis with no known cause.", "url": "https://disease-ontology.org/term/DOID:0060250", "evidence": [ { "id": "0060250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060250" } ], "weight": 0.0 }, { "disease_id": "DOID:0111513", "name": "metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome", "description": "An osteochondrodysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth that has_material_basis_in heterozygous duplication of the RUNX2 gene on chromosome 6p21.1.", "url": "https://disease-ontology.org/term/DOID:0111513", "evidence": [ { "id": "0111513", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111513" } ], "weight": 0.0 }, { "disease_id": "DOID:10159", "name": "osteonecrosis", "description": "An ischemic bone disease that results_in necrosis located_in bone.", "url": "https://disease-ontology.org/term/DOID:10159", "evidence": [ { "id": "10159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10159" } ], "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: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: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:13994", "name": "cleidocranial dysplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull.", "url": "https://disease-ontology.org/term/DOID:13994", "evidence": [ { "id": "13994", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13994" } ], "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: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:2152", "name": "ovary epithelial cancer", "description": "An ovarian cancer that is derives_from ovarian surface epithelium.", "url": "https://disease-ontology.org/term/DOID:2152", "evidence": [ { "id": "2152", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2152" } ], "weight": 0.0 }, { "disease_id": "DOID: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. 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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:289" } ], "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:3033", "name": "colon signet ring adenocarcinoma", "description": "", "url": "https://disease-ontology.org/term/DOID:3033", "evidence": [ { "id": "3033", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3033" } ], "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: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": 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{ "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRM1", "url": "https://www.uniprot.org/uniprotkb/Q9VRM1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 198, "chemical_mass": 21716.0, "gene_names": "Dmel\\CG13285;FBgn0035611;CG13285;Dmel\\CG13285;Dmel_CG13285;FBgn0035611", "protein_name": "Prisilkin-39", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q9VRM6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRM6", "url": "https://www.uniprot.org/uniprotkb/Q9VRM6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1929, "chemical_mass": 215362.0, "gene_names": "l(3)psg2;CG5146;Dmel\\CG5146;Dmel_CG5146;anon-EST:Liang-1.47;clone 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"database": "UniProtKB", "id": "Q9VS02", "url": "https://www.uniprot.org/uniprotkb/Q9VS02" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q9VS02", "url": "https://www.uniprot.org/uniprotkb/Q9VS02" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q9VS32-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VS32", "url": "https://www.uniprot.org/uniprotkb/Q9VS32" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 219, "chemical_mass": 24744.0, "gene_names": "Dmel\\CG14829;CG14829;Dmel\\CG14829;Dmel_CG14829", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": 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], "pmid": "" }, { "name": "ABC-type transporter activity", "id": "GO:0140359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140359", "evidence": [ { "database": "UniProtKB", "id": "Q9W2I5", "url": "https://www.uniprot.org/uniprotkb/Q9W2I5" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9W2I5", "url": "https://www.uniprot.org/uniprotkb/Q9W2I5" } ], "pmid": "" } ], "biological_process": [ { "name": "response to zinc ion", "id": "GO:0010043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010043", "evidence": [ { "database": "UniProtKB", "id": "Q9W2I5", "url": "https://www.uniprot.org/uniprotkb/Q9W2I5" } ], "pmid": "" }, { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q9W2I5", "url": "https://www.uniprot.org/uniprotkb/Q9W2I5" } ], "pmid": "" }, { "name": "response to copper ion", "id": "GO:0046688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046688", "evidence": [ { "database": "UniProtKB", "id": "Q9W2I5", "url": "https://www.uniprot.org/uniprotkb/Q9W2I5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q9W2M7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W2M7", "url": "https://www.uniprot.org/uniprotkb/Q9W2M7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 476, "chemical_mass": 52765.0, "gene_names": "Cht8;CG9357;Cht8;Cht;DmCht8;Dmel\\CG9357;Dmel_CG9357;cht8", "protein_name": "chitinase", "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: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: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: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: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:1205", "name": "allergic disease", "description": "An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods.", "url": "https://disease-ontology.org/term/DOID:1205", "evidence": [ { "id": "1205", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1205" } ], "weight": 0.0 }, { "disease_id": "DOID:12053", "name": "cryptococcosis", "description": "An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii.", "url": "https://disease-ontology.org/term/DOID:12053", "evidence": [ { "id": "12053", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12053" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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: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: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: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: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: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: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: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 } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9W2M7", "url": "https://www.uniprot.org/uniprotkb/Q9W2M7" } ], "pmid": "" } ], "biological_process": [ { "name": "polysaccharide catabolic process", "id": "GO:0000272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000272", "evidence": [ { "database": "UniProtKB", "id": "Q9W2M7", "url": "https://www.uniprot.org/uniprotkb/Q9W2M7" } ], "pmid": "" }, { "name": "chitin catabolic process", "id": "GO:0006032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006032", "evidence": [ { "database": "UniProtKB", "id": "Q9W2M7", "url": "https://www.uniprot.org/uniprotkb/Q9W2M7" } ], "pmid": "" }, { "name": "ecdysis, chitin-based cuticle", "id": "GO:0018990", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018990", "evidence": [ { "database": "UniProtKB", "id": "Q9W2M7", "url": "https://www.uniprot.org/uniprotkb/Q9W2M7" } ], "pmid": "" } ], "molecular_function": [ { "name": "chitinase activity", "id": "GO:0004568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004568", "evidence": [ { "database": "UniProtKB", "id": "Q9W2M7", "url": "https://www.uniprot.org/uniprotkb/Q9W2M7" } ], "pmid": "" }, { "name": "endochitinase activity", "id": "GO:0008843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008843", "evidence": [ { "database": "UniProtKB", "id": "Q9W2M7", "url": "https://www.uniprot.org/uniprotkb/Q9W2M7" } ], "pmid": "" }, { "name": "chitin binding", "id": "GO:0008061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008061", "evidence": [ { "database": "UniProtKB", "id": "Q9W2M7", "url": "https://www.uniprot.org/uniprotkb/Q9W2M7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q9W2R5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W2R5", "url": "https://www.uniprot.org/uniprotkb/Q9W2R5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 225, "chemical_mass": 24595.0, "gene_names": "Dmel\\CG15225;CG15225;Dmel\\CG15225;Dmel_CG15225", "protein_name": "", "disease": [], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9W2R5", "url": "https://www.uniprot.org/uniprotkb/Q9W2R5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q9W2S8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W2S8", "url": "https://www.uniprot.org/uniprotkb/Q9W2S8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 911, "chemical_mass": 103366.0, "gene_names": "Dmel\\CG9806;CG9806;Dmel\\CG9806;Dmel_CG9806", "protein_name": "Aminopeptidase", "disease": [ { "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 } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9W2S8", "url": "https://www.uniprot.org/uniprotkb/Q9W2S8" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9W2S8", "url": "https://www.uniprot.org/uniprotkb/Q9W2S8" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9W2S8", "url": "https://www.uniprot.org/uniprotkb/Q9W2S8" } ], "pmid": "" }, { "name": "side of membrane", "id": "GO:0098552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098552", "evidence": [ { "database": "UniProtKB", "id": "Q9W2S8", "url": "https://www.uniprot.org/uniprotkb/Q9W2S8" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": 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} ], "pmid": "" } ], "biological_process": [ { "name": "carnitine biosynthetic process", "id": "GO:0045329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045329", "evidence": [ { "database": "UniProtKB", "id": "Q9W5B5", "url": "https://www.uniprot.org/uniprotkb/Q9W5B5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q9W5C8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W5C8", "url": "https://www.uniprot.org/uniprotkb/Q9W5C8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 93, "chemical_mass": 10305.0, "gene_names": "Dmel\\CG14634;CG14634;Dmel\\CG14634;Dmel_CG14634", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q9XZ53-1", "species": [ { 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"A0A0B4KGL7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KGL7", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KGL7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 750, "chemical_mass": 84713.0, "gene_names": "Osi17;CG15598;Dmel\\CG15598;Dmel_CG15598;Osi17;mdcds_43703", "protein_name": "", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KGL7", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KGL7" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KGL7", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KGL7" } ], "pmid": "" }, { "name": "endosome membrane", "id": 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"Drosophila melanogaster [7227]" } ], "length": 652, "chemical_mass": 71724.0, "gene_names": "Irk1;CG13836;CG44159;CG6747;DIR;Dir;Dm_3R:100326;Dm_3R:100349;Dmel\\CG44159;Dmel_CG44159;Irk1;Ir;Kir1;dIRK;dKirI;irk1;ir", "protein_name": "", "disease": [ { "disease_id": "DOID:0050434", "name": "Andersen-Tawil syndrome", "description": "A long QT syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly.", "url": "https://disease-ontology.org/term/DOID:0050434", "evidence": [ { "id": "0050434", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050434" } ], "weight": 0.0 }, { "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:0050758", "name": "metabolic acidosis", "description": "An acquired metabolic disease that characterized by excessive production of acid.", "url": "https://disease-ontology.org/term/DOID:0050758", "evidence": [ { "id": "0050758", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050758" } ], "weight": 0.0 }, { "disease_id": "DOID:0050793", "name": "short QT syndrome", "description": "A heart conduction disease that is characterized by heart arrhythmia defined as a short QT interval on an EKG (less than 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart.", "url": "https://disease-ontology.org/term/DOID:0050793", "evidence": [ { "id": "0050793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050793" } ], "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:0060569", "name": "hypertrichotic osteochondrodysplasia Cantu type", "description": "An osteochondrodysplasia that is characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly.", "url": "https://disease-ontology.org/term/DOID:0060569", "evidence": [ { "id": "0060569", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060569" } ], "weight": 0.0 }, { "disease_id": "DOID:0060639", "name": "permanent neonatal diabetes mellitus", "description": "A neonatal diabetes that has_material_basis_in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene.", "url": "https://disease-ontology.org/term/DOID:0060639", "evidence": [ { "id": "0060639", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060639" } ], "weight": 0.0 }, { "disease_id": "DOID:0061172", "name": "transient neonatal diabetes mellitus 3", "description": "A transient neonatal diabetes mellitus that has_material_basis_in heterozygous mutation in the KCNJ11 gene on chromosome 11p15.", "url": "https://disease-ontology.org/term/DOID:0061172", "evidence": [ { "id": "0061172", "database": "AGR", "url": 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"name": "long QT syndrome 13", "description": "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNJ5 gene on chromosome 11q24.3.", "url": "https://disease-ontology.org/term/DOID:0110654", "evidence": [ { "id": "0110654", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110654" } ], "weight": 0.0 }, { "disease_id": "DOID:0111110", "name": "maturity-onset diabetes of the young type 13", "description": "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KCNJ11 gene on chromosome 11p15.", "url": "https://disease-ontology.org/term/DOID:0111110", "evidence": [ { "id": "0111110", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111110" } ], "weight": 0.0 }, { "disease_id": "DOID:1029", "name": "familial periodic paralysis", "description": "A metal metabolism disorder that is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally, and that are caused by mutations in genes involved in the sodium and calcium channels in nerve cells.", "url": "https://disease-ontology.org/term/DOID:1029", "evidence": [ { "id": "1029", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1029" } ], "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: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:11716", "name": "prediabetes syndrome", "description": "A glucose metabolism disease that is characterized by blood glucose levels are high, but not high enough to be classified as type 2 diabetes.", "url": "https://disease-ontology.org/term/DOID:11716", "evidence": [ { "id": "11716", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11716" } ], "weight": 0.0 }, { "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": "https://disease-ontology.org/term/DOID:14791", "evidence": [ { "id": "14791", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14791" } ], "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: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: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:446", "name": "primary hyperaldosteronism", "description": "An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands.", "url": "https://disease-ontology.org/term/DOID:446", "evidence": [ { "id": "446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:446" } ], "weight": 0.0 }, { "disease_id": "DOID:4500", "name": "hypokalemia", "description": "", "url": "https://disease-ontology.org/term/DOID:4500", "evidence": [ { "id": "4500", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4500" } ], "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: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 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KH86", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KH86" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KH86", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KH86" } ], "pmid": "" }, { "name": "monoatomic ion channel complex", "id": "GO:0034702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034702", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KH86", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KH86" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of membrane potential", "id": "GO:0042391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042391", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KH86", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KH86" } ], "pmid": "" }, { "name": "potassium ion transport", "id": "GO:0006813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006813", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KH86", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KH86" } ], "pmid": "" }, { "name": "locomotor rhythm", "id": "GO:0045475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045475", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KH86", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KH86" } ], "pmid": "" }, { "name": "potassium ion import across plasma membrane", "id": "GO:1990573", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990573", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KH86", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KH86" } ], "pmid": "" }, { "name": "wing disc development", "id": "GO:0035220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035220", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KH86", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KH86" } ], "pmid": "" } ], "molecular_function": [ { "name": "inward rectifier potassium channel activity", "id": "GO:0005242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005242", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KH86", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KH86" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "A0A0B4LFP0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4LFP0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4LFP0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 732, "chemical_mass": 82231.0, "gene_names": "Dmel\\CG44435;CG15086;CG44435;Dmel\\CG44435;Dmel_CG44435", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "A1ZBJ8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1ZBJ8", "url": "https://www.uniprot.org/uniprotkb/A1ZBJ8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 513, "chemical_mass": 55330.0, "gene_names": "fest;CG9975;Dmel\\CG9975;Dmel_CG9975;fest", "protein_name": "", "disease": [], "biological_process": [ { "name": "insemination", "id": "GO:0007320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007320", "evidence": [ { "database": "UniProtKB", "id": "A1ZBJ8", "url": "https://www.uniprot.org/uniprotkb/A1ZBJ8" } ], "pmid": "" }, { "name": "negative regulation of translation", "id": "GO:0017148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017148", "evidence": [ { "database": "UniProtKB", "id": "A1ZBJ8", "url": "https://www.uniprot.org/uniprotkb/A1ZBJ8" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "A1ZBJ8", "url": "https://www.uniprot.org/uniprotkb/A1ZBJ8" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "A1ZBJ8", "url": "https://www.uniprot.org/uniprotkb/A1ZBJ8" } ], "pmid": "" }, { "name": "translation repressor complex", "id": "GO:1903502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903502", "evidence": [ { "database": "UniProtKB", "id": "A1ZBJ8", "url": "https://www.uniprot.org/uniprotkb/A1ZBJ8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q9VI54-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VI54", "url": "https://www.uniprot.org/uniprotkb/Q9VI54" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 905, "chemical_mass": 102625.0, "gene_names": "Dmel\\CG1965;CG1965;Dmel\\CG1965;Dmel_CG1965", "protein_name": "GCF C-terminal domain-containing protein", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9VI54", "url": "https://www.uniprot.org/uniprotkb/Q9VI54" } ], "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": "Q9VI54", "url": "https://www.uniprot.org/uniprotkb/Q9VI54" } ], "pmid": "" }, { "name": "spliceosomal complex disassembly", "id": "GO:0000390", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000390", "evidence": [ { "database": "UniProtKB", "id": "Q9VI54", "url": "https://www.uniprot.org/uniprotkb/Q9VI54" } ], "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": "Q9VI54", "url": "https://www.uniprot.org/uniprotkb/Q9VI54" } ], "pmid": "" }, { "name": "precatalytic spliceosome", "id": "GO:0071011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071011", "evidence": [ { "database": "UniProtKB", "id": "Q9VI54", "url": "https://www.uniprot.org/uniprotkb/Q9VI54" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VI54", "url": "https://www.uniprot.org/uniprotkb/Q9VI54" } ], "pmid": "" }, { "name": "U2-type post-mRNA release spliceosomal complex", "id": "GO:0071008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071008", "evidence": [ { "database": "UniProtKB", "id": "Q9VI54", "url": "https://www.uniprot.org/uniprotkb/Q9VI54" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q9VDG5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VDG5", "url": "https://www.uniprot.org/uniprotkb/Q9VDG5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 950, "chemical_mass": 106149.0, "gene_names": "Calx;9C5;CALX1.1;CALX;CG5685;CalX;Calx;Dmel/Ncx;Dmel\\CG5685;Dmel_CG5685;NCX;Ncx;anon-93ABa;calX;calx", "protein_name": "Sodium/calcium exchanger Calx", "disease": [ { "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: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: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: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:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q9VDG5", "url": "https://www.uniprot.org/uniprotkb/Q9VDG5" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q9VDG5", "url": "https://www.uniprot.org/uniprotkb/Q9VDG5" } ], "pmid": "" }, { "name": "calcium:sodium antiporter activity", "id": "GO:0005432", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005432", "evidence": [ { "database": "UniProtKB", "id": "Q9VDG5", "url": "https://www.uniprot.org/uniprotkb/Q9VDG5" } ], "pmid": "" } ], "biological_process": [ { "name": "response to endoplasmic reticulum stress", "id": "GO:0034976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034976", "evidence": [ { "database": "UniProtKB", "id": "Q9VDG5", "url": "https://www.uniprot.org/uniprotkb/Q9VDG5" } ], "pmid": "" }, { "name": "phototransduction", "id": "GO:0007602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007602", "evidence": [ { "database": "UniProtKB", "id": "Q9VDG5", "url": "https://www.uniprot.org/uniprotkb/Q9VDG5" } ], "pmid": "" }, { "name": "neuromuscular process controlling posture", "id": "GO:0050884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050884", "evidence": [ { "database": "UniProtKB", "id": "Q9VDG5", "url": "https://www.uniprot.org/uniprotkb/Q9VDG5" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "Q9VDG5", "url": "https://www.uniprot.org/uniprotkb/Q9VDG5" } ], "pmid": "" }, { "name": "sodium ion transmembrane transport", "id": "GO:0035725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035725", "evidence": [ { "database": "UniProtKB", "id": "Q9VDG5", "url": "https://www.uniprot.org/uniprotkb/Q9VDG5" } ], "pmid": "" }, { "name": "calcium ion export across plasma membrane", "id": "GO:1990034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990034", "evidence": [ { "database": "UniProtKB", "id": "Q9VDG5", "url": "https://www.uniprot.org/uniprotkb/Q9VDG5" } ], "pmid": "" } ], "cellular_component": [ { "name": 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"biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "A0A0B4LHI2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4LHI2", "url": "https://www.uniprot.org/uniprotkb/A0A0B4LHI2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 107, "chemical_mass": 12315.0, "gene_names": "pre-mod(mdg4)-K;CG44879;Dmel\\CG44879;Dmel_CG44879;pre-mod(mdg4)-K", "protein_name": "", "disease": [], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4LHI2", "url": "https://www.uniprot.org/uniprotkb/A0A0B4LHI2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "A0A0S0WP43-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0S0WP43", "url": "https://www.uniprot.org/uniprotkb/A0A0S0WP43" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 156, "chemical_mass": 17854.0, "gene_names": "Dmel\\CG14459;CG14459;Dmel_CG14459", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "Q9VAS9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VAS9", "url": "https://www.uniprot.org/uniprotkb/Q9VAS9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 2417, "chemical_mass": 261285.0, "gene_names": "Apc;APC1;APC;Apc1;Apc;CG1451;D-APC1;D-APC;DAPC;Dm APC1;Dmel\\CG1451;Dmel_CG1451;apc 1;apc1;apc;d-APC;dAPC1;dAPC;dApc;dapc1", "protein_name": "", "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: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:0050902", "name": "medulloblastoma", "description": "An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor.", "url": "https://disease-ontology.org/term/DOID:0050902", "evidence": [ { "id": "0050902", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050902" } ], "weight": 0.0 }, { "disease_id": "DOID:0061143", "name": "complex cortical dysplasia with other brain malformations 10", "description": "A complex cortical dysplasia with other brain malformations characterized by severely impaired global development associated with abnormalities on brain imaging, including lissencephaly, cortical dysplasia, subcortical heterotopia, and paucity of white matter that has_material_basis_in homozygous or compound heterozygous mutation in the APC2 gene on chromosome 19p13.", "url": "https://disease-ontology.org/term/DOID:0061143", "evidence": [ { "id": "0061143", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061143" } ], "weight": 0.0 }, { "disease_id": "DOID:0080409", "name": "familial adenomatous polyposis 1", "description": "A familial adenomatous polyposis that is characterized by predisposition to cancer and that has_material_basis_in heterozygous mutation in the APC gene on chromosome 5q22. Affected individuals usually develop hundreds to thousands of adenomatous polyps of the colon and rectum, a small proportion of which will progress to colorectal carcinoma if not surgically treated.", "url": "https://disease-ontology.org/term/DOID:0080409", "evidence": [ { "id": "0080409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080409" } ], "weight": 0.0 }, { "disease_id": "DOID:0081218", "name": "autosomal recessive intellectual developmental disorder 74", "description": "An autosomal recessive intellectual developmental disorder that is characterized by intellectual impairment, macrocephaly, and dysmorphic features and that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13. Epilepsy with eyelid myoclonus has also been reported.", "url": "https://disease-ontology.org/term/DOID:0081218", "evidence": [ { "id": "0081218", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081218" } ], "weight": 0.0 }, { "disease_id": "DOID:0111349", "name": "hereditary desmoid disease", "description": "A syndrome characterized by extraintestinal manifestation of familial adenomatous polyposis that has_material_basis_in in some cases by extreme 3' mutation in APC on 5q22.2.", "url": "https://disease-ontology.org/term/DOID:0111349", "evidence": [ { "id": "0111349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111349" } ], "weight": 0.0 }, { "disease_id": "DOID:0112104", "name": "Sotos syndrome 3", "description": "A Sotos syndrome that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13.3.", "url": "https://disease-ontology.org/term/DOID:0112104", "evidence": [ { "id": "0112104", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112104" } ], "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: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: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: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: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: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: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: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: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:2871", "name": "endometrial carcinoma", "description": "A endometrial cancer that is located_in the tissue lining the uterus.", "url": "https://disease-ontology.org/term/DOID:2871", "evidence": [ { "id": "2871", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2871" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3025", "name": "acinar cell carcinoma", "description": "A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from spindle cells and/or derives_from giant cells.", "url": "https://disease-ontology.org/term/DOID:3025", "evidence": [ { "id": "3025", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3025" } ], "weight": 0.0 }, { "disease_id": "DOID:3121", "name": "gallbladder cancer", "description": "A biliary tract cancer that is located_in the gallbladder.", "url": "https://disease-ontology.org/term/DOID:3121", "evidence": [ { "id": "3121", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3121" } ], "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: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:657", "name": "adenoma", "description": "A cell type benign neoplasm that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures.", "url": "https://disease-ontology.org/term/DOID:657", "evidence": [ { "id": "657", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:657" } ], "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": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VAS9", "url": "https://www.uniprot.org/uniprotkb/Q9VAS9" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q9VAS9", "url": "https://www.uniprot.org/uniprotkb/Q9VAS9" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "Q9VAS9", "url": "https://www.uniprot.org/uniprotkb/Q9VAS9" } ], "pmid": "" }, { "name": "cell periphery", "id": "GO:0071944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071944", "evidence": [ { "database": "UniProtKB", "id": "Q9VAS9", "url": "https://www.uniprot.org/uniprotkb/Q9VAS9" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9VAS9", "url": "https://www.uniprot.org/uniprotkb/Q9VAS9" } ], "pmid": "" }, { "name": "catenin complex", "id": "GO:0016342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016342", "evidence": [ { "database": "UniProtKB", "id": "Q9VAS9", "url": "https://www.uniprot.org/uniprotkb/Q9VAS9" } ], "pmid": "" }, { "name": "beta-catenin destruction complex", "id": "GO:0030877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030877", "evidence": [ { "database": "UniProtKB", "id": "Q9VAS9", "url": "https://www.uniprot.org/uniprotkb/Q9VAS9" } ], "pmid": "" } ], "biological_process": [ { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q9VAS9", "url": "https://www.uniprot.org/uniprotkb/Q9VAS9" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q9VAS9", "url": "https://www.uniprot.org/uniprotkb/Q9VAS9" } ], "pmid": "" }, { "name": "negative regulation of Wnt signaling pathway", "id": "GO:0030178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030178", "evidence": [ { "database": "UniProtKB", "id": "Q9VAS9", "url": "https://www.uniprot.org/uniprotkb/Q9VAS9" } ], "pmid": "" }, { "name": "neuroblast proliferation", "id": "GO:0007405", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007405", "evidence": [ { "database": "UniProtKB", "id": "Q9VAS9", "url": "https://www.uniprot.org/uniprotkb/Q9VAS9" } ], "pmid": "" }, { "name": "establishment or maintenance of microtubule cytoskeleton polarity", "id": "GO:0030951", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030951", "evidence": [ { "database": "UniProtKB", "id": "Q9VAS9", "url": "https://www.uniprot.org/uniprotkb/Q9VAS9" } ], "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": "Q9VAS9", "url": "https://www.uniprot.org/uniprotkb/Q9VAS9" } ], "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": "Q9VAS9", "url": "https://www.uniprot.org/uniprotkb/Q9VAS9" } ], "pmid": "" }, { "name": "cell fate specification", "id": "GO:0001708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001708", "evidence": [ { "database": "UniProtKB", "id": "Q9VAS9", "url": "https://www.uniprot.org/uniprotkb/Q9VAS9" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q9VAS9", "url": "https://www.uniprot.org/uniprotkb/Q9VAS9" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q9VAS9", "url": "https://www.uniprot.org/uniprotkb/Q9VAS9" } ], "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": "Q9VAS9", "url": "https://www.uniprot.org/uniprotkb/Q9VAS9" } ], "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": "Q9VAS9", "url": "https://www.uniprot.org/uniprotkb/Q9VAS9" } ], "pmid": "" }, { "name": "negative regulation of microtubule depolymerization", "id": "GO:0007026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007026", "evidence": [ { 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"name": "regulation of innate immune response", "id": "GO:0045088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045088", "evidence": [ { "database": "UniProtKB", "id": "A0ZWY4", "url": "https://www.uniprot.org/uniprotkb/A0ZWY4" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "A0ZWY4", "url": "https://www.uniprot.org/uniprotkb/A0ZWY4" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "A0ZWY4", "url": "https://www.uniprot.org/uniprotkb/A0ZWY4" } ], "pmid": "" } ], "molecular_function": [ { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "A0ZWY4", "url": "https://www.uniprot.org/uniprotkb/A0ZWY4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.5" }, { "uniprot_canonical_ac": "A1Z6L9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1Z6L9", "url": "https://www.uniprot.org/uniprotkb/A1Z6L9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 691, "chemical_mass": 77963.0, "gene_names": "Trap1;AAN71071;CG3152;Dmel\\CG3152;Dmel_CG3152;TRAP1dr;TRAP1;Trap1;dtrap-1;trap1", "protein_name": "Heat shock protein 75 kDa, mitochondrial", "disease": [], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "A1Z6L9", "url": "https://www.uniprot.org/uniprotkb/A1Z6L9" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": 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"id": "A1Z6L9", "url": "https://www.uniprot.org/uniprotkb/A1Z6L9" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "A1Z6L9", "url": "https://www.uniprot.org/uniprotkb/A1Z6L9" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "A1Z6L9", "url": "https://www.uniprot.org/uniprotkb/A1Z6L9" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "A1Z6L9", "url": "https://www.uniprot.org/uniprotkb/A1Z6L9" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "A1Z6L9", "url": 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