[ { "uniprot_canonical_ac": "B0S525-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "B0S525", "url": "https://www.uniprot.org/uniprotkb/B0S525" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 265, "chemical_mass": 29225.0, "gene_names": "igfbp5b;igfbp5a;igfbp5b;igfbp5", "protein_name": "Insulin-like growth factor-binding protein 5", "disease": [ { "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 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "B0S525", "url": "https://www.uniprot.org/uniprotkb/B0S525" } ], "pmid": "" } ], "molecular_function": [ { "name": "fibronectin binding", "id": "GO:0001968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001968", "evidence": [ { "database": "UniProtKB", "id": "B0S525", "url": "https://www.uniprot.org/uniprotkb/B0S525" } ], "pmid": "" }, { "name": "insulin-like growth factor I binding", "id": "GO:0031994", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031994", "evidence": [ { "database": "UniProtKB", "id": "B0S525", "url": "https://www.uniprot.org/uniprotkb/B0S525" } ], "pmid": "" }, { "name": "insulin-like growth factor II binding", "id": "GO:0031995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031995", "evidence": [ { "database": "UniProtKB", "id": "B0S525", "url": "https://www.uniprot.org/uniprotkb/B0S525" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of insulin-like growth factor receptor signaling pathway", "id": "GO:0043567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043567", "evidence": [ { "database": "UniProtKB", "id": "B0S525", "url": "https://www.uniprot.org/uniprotkb/B0S525" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.10" }, { "uniprot_canonical_ac": "B0S533-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "B0S533", "url": "https://www.uniprot.org/uniprotkb/B0S533" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 1058, "chemical_mass": 118794.0, "gene_names": "lig1;lig1;si:dkeyp-35b8.5;si:dkeyp-35b8.7;wu:fc54a11", "protein_name": "DNA ligase", "disease": [ { "disease_id": "DOID:0061066", "name": "immunodeficiency 96", "description": "A primary immunodeficiency disease that is characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the LIG1 gene on chromosome 19q13.", "url": "https://disease-ontology.org/term/DOID:0061066", "evidence": [ { "id": "0061066", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061066" } ], "weight": 0.0 }, { "disease_id": "DOID:612", "name": "primary immunodeficiency disease", "description": "An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation.", "url": "https://disease-ontology.org/term/DOID:612", "evidence": [ { "id": "612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:612" } ], "weight": 0.0 }, { "disease_id": "DOID:655", "name": "inherited metabolic disorder", "description": "A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.", "url": "https://disease-ontology.org/term/DOID:655", "evidence": [ { "id": "655", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:655" } ], "weight": 0.0 } ], "biological_process": [ { "name": "DNA biosynthetic process", "id": "GO:0071897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071897", "evidence": [ { "database": "UniProtKB", "id": "B0S533", "url": "https://www.uniprot.org/uniprotkb/B0S533" } ], "pmid": "" }, { "name": "lagging strand elongation", "id": "GO:0006273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006273", "evidence": [ { "database": "UniProtKB", "id": "B0S533", "url": "https://www.uniprot.org/uniprotkb/B0S533" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "B0S533", "url": "https://www.uniprot.org/uniprotkb/B0S533" } ], "pmid": "" }, { "name": "DNA recombination", "id": "GO:0006310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006310", "evidence": [ { "database": "UniProtKB", "id": "B0S533", "url": "https://www.uniprot.org/uniprotkb/B0S533" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "B0S533", "url": "https://www.uniprot.org/uniprotkb/B0S533" } ], "pmid": "" }, { "name": "Okazaki fragment processing involved in mitotic DNA replication", "id": "GO:1903461", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903461", "evidence": [ { "database": "UniProtKB", "id": "B0S533", "url": "https://www.uniprot.org/uniprotkb/B0S533" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "B0S533", "url": "https://www.uniprot.org/uniprotkb/B0S533" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "B0S533", "url": "https://www.uniprot.org/uniprotkb/B0S533" } ], "pmid": "" }, { "name": "DNA ligase (ATP) activity", "id": "GO:0003910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003910", "evidence": [ { "database": "UniProtKB", "id": "B0S533", "url": "https://www.uniprot.org/uniprotkb/B0S533" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "B0S533", "url": "https://www.uniprot.org/uniprotkb/B0S533" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "B0S533-1", "start_pos": "131", "end_pos": "131", "site_lbl": "Thr131", "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": 131, "start_aa": "Thr", "end_pos": 131, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr131", "evidence": [ { "id": "", "database": "GlyGen", "url": "https://data.glygen.org/" } ] } ] }, { "uniprot_canonical_ac": "B0S533-1", "start_pos": "134", "end_pos": "134", "site_lbl": "Thr134", "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": 134, "start_aa": "Thr", "end_pos": 134, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr134", "evidence": [ { "id": "", "database": "GlyGen", "url": "https://data.glygen.org/" } ] } ] } ], "record_id": "batch.zebrafish.10" }, { "uniprot_canonical_ac": "B0S553-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "B0S553", "url": "https://www.uniprot.org/uniprotkb/B0S553" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 717, "chemical_mass": 81611.0, "gene_names": "nefmb;nefmb;nefm;zgc:158491", "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: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: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:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:1459", "evidence": [ { "id": "1459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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 } ], "molecular_function": [ { "name": "structural constituent of cytoskeleton", "id": "GO:0005200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005200", "evidence": [ { "database": "UniProtKB", "id": "B0S553", "url": "https://www.uniprot.org/uniprotkb/B0S553" } ], "pmid": "" } ], "cellular_component": [ { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "B0S553", "url": "https://www.uniprot.org/uniprotkb/B0S553" } ], "pmid": "" }, { "name": "intermediate filament", "id": "GO:0005882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005882", "evidence": [ { "database": "UniProtKB", "id": "B0S553", "url": "https://www.uniprot.org/uniprotkb/B0S553" } ], "pmid": "" }, { "name": "postsynaptic intermediate filament cytoskeleton", "id": "GO:0099160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099160", "evidence": [ { "database": "UniProtKB", "id": "B0S553", "url": "https://www.uniprot.org/uniprotkb/B0S553" } ], "pmid": "" } ], "biological_process": [ { "name": "neurofilament bundle assembly", "id": "GO:0033693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033693", "evidence": [ { "database": "UniProtKB", "id": "B0S553", "url": "https://www.uniprot.org/uniprotkb/B0S553" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.10" }, { "uniprot_canonical_ac": "B0S585-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "B0S585", "url": "https://www.uniprot.org/uniprotkb/B0S585" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 272, "chemical_mass": 30195.0, "gene_names": "mapre1a;MAPRE1;mapre1a;mapre1l;wu:fi33c06;zgc:55428;zgc:77807", "protein_name": "Microtubule-associated protein RP/EB family member 1", "disease": [], "biological_process": [ { "name": "regulation of microtubule polymerization or depolymerization", "id": "GO:0031110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031110", "evidence": [ { "database": "UniProtKB", "id": "B0S585", "url": "https://www.uniprot.org/uniprotkb/B0S585" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "B0S585", "url": "https://www.uniprot.org/uniprotkb/B0S585" } ], "pmid": "" }, { "name": "spindle assembly", "id": "GO:0051225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051225", "evidence": [ { "database": "UniProtKB", "id": "B0S585", "url": "https://www.uniprot.org/uniprotkb/B0S585" } ], "pmid": "" }, { "name": "protein localization to microtubule", "id": "GO:0035372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035372", "evidence": [ { "database": "UniProtKB", "id": "B0S585", "url": "https://www.uniprot.org/uniprotkb/B0S585" } ], "pmid": "" } ], "cellular_component": [ { "name": "spindle pole", "id": "GO:0000922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000922", "evidence": [ { "database": "UniProtKB", "id": "B0S585", "url": "https://www.uniprot.org/uniprotkb/B0S585" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "B0S585", "url": "https://www.uniprot.org/uniprotkb/B0S585" } ], "pmid": "" }, { "name": "spindle midzone", "id": "GO:0051233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051233", "evidence": [ { "database": "UniProtKB", "id": "B0S585", "url": "https://www.uniprot.org/uniprotkb/B0S585" } ], "pmid": "" }, { "name": "microtubule organizing center", "id": "GO:0005815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005815", "evidence": [ { "database": "UniProtKB", "id": "B0S585", "url": "https://www.uniprot.org/uniprotkb/B0S585" } ], "pmid": "" }, { "name": "cytoplasmic microtubule", "id": "GO:0005881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005881", "evidence": [ { "database": "UniProtKB", "id": "B0S585", "url": "https://www.uniprot.org/uniprotkb/B0S585" } ], "pmid": "" }, { "name": "microtubule plus-end", "id": "GO:0035371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035371", "evidence": [ { "database": "UniProtKB", "id": "B0S585", "url": "https://www.uniprot.org/uniprotkb/B0S585" } ], "pmid": "" } ], "molecular_function": [ { "name": "microtubule plus-end binding", "id": "GO:0051010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051010", "evidence": [ { "database": "UniProtKB", "id": "B0S585", "url": "https://www.uniprot.org/uniprotkb/B0S585" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.10" }, { "uniprot_canonical_ac": "B0S5A7-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "B0S5A7", "url": "https://www.uniprot.org/uniprotkb/B0S5A7" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 700, "chemical_mass": 79503.0, "gene_names": "slc44a5b;ctl5b;si:dkey-267j14.1", "protein_name": "Choline transporter-like protein 5-B", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "B0S5A7", "url": "https://www.uniprot.org/uniprotkb/B0S5A7" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "B0S5A7", "url": "https://www.uniprot.org/uniprotkb/B0S5A7" } ], "pmid": "" } ], "molecular_function": [ { "name": "transmembrane transporter activity", "id": "GO:0022857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "B0S5A7", "url": "https://www.uniprot.org/uniprotkb/B0S5A7" } ], "pmid": "" }, { "name": "antiporter activity", "id": "GO:0015297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015297", "evidence": [ { "database": "UniProtKB", "id": "B0S5A7", "url": "https://www.uniprot.org/uniprotkb/B0S5A7" } ], "pmid": "" }, { "name": "choline transmembrane transporter activity", "id": "GO:0015220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015220", "evidence": [ { "database": "UniProtKB", "id": "B0S5A7", "url": "https://www.uniprot.org/uniprotkb/B0S5A7" } ], "pmid": "" } ], "biological_process": [ { "name": "transmembrane 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"" }, { "name": "regulation of mitotic cell cycle", "id": "GO:0007346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007346", "evidence": [ { "database": "UniProtKB", "id": "B0S7G1", "url": "https://www.uniprot.org/uniprotkb/B0S7G1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.10" }, { "uniprot_canonical_ac": "B0S7G2-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "B0S7G2", "url": "https://www.uniprot.org/uniprotkb/B0S7G2" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 700, "chemical_mass": 78129.0, "gene_names": "kif2c;kif2c;si:ch211-61f14.1", "protein_name": "Kinesin-like protein", "disease": [ { "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": 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"url": "https://www.uniprot.org/uniprotkb/B0UXK1" } ], "pmid": "" }, { "name": "tumor necrosis factor-mediated signaling pathway", "id": "GO:0033209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033209", "evidence": [ { "database": "UniProtKB", "id": "B0UXK1", "url": "https://www.uniprot.org/uniprotkb/B0UXK1" } ], "pmid": "" }, { "name": "regulation of canonical NF-kappaB signal transduction", "id": "GO:0043122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043122", "evidence": [ { "database": "UniProtKB", "id": "B0UXK1", "url": "https://www.uniprot.org/uniprotkb/B0UXK1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.10" }, { "uniprot_canonical_ac": "B0UXN0-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "B0UXN0", "url": "https://www.uniprot.org/uniprotkb/B0UXN0" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], 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"biomarkers": [], "sites": [], "record_id": "batch.zebrafish.10" }, { "uniprot_canonical_ac": "B0UXR9-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "B0UXR9", "url": "https://www.uniprot.org/uniprotkb/B0UXR9" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 643, "chemical_mass": 70442.0, "gene_names": "hsp70.2;hsp70.2;si:ch73-46h18.6;si:dkeyp-69e1.1;zgc:174006", "protein_name": "Heat shock cognate 71 kDa protein", "disease": [], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "B0UXR9", "url": "https://www.uniprot.org/uniprotkb/B0UXR9" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "B0UXR9", "url": "https://www.uniprot.org/uniprotkb/B0UXR9" } ], "pmid": "" }, { "name": "heat shock protein binding", "id": "GO:0031072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031072", "evidence": [ { "database": "UniProtKB", "id": "B0UXR9", "url": "https://www.uniprot.org/uniprotkb/B0UXR9" } ], "pmid": "" }, { "name": "protein folding chaperone", "id": "GO:0044183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044183", "evidence": [ { "database": "UniProtKB", "id": "B0UXR9", "url": "https://www.uniprot.org/uniprotkb/B0UXR9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "B0UXR9", "url": "https://www.uniprot.org/uniprotkb/B0UXR9" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "B0UXR9", "url": "https://www.uniprot.org/uniprotkb/B0UXR9" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "B0UXR9", "url": "https://www.uniprot.org/uniprotkb/B0UXR9" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "B0UXR9", "url": "https://www.uniprot.org/uniprotkb/B0UXR9" } ], "pmid": "" } ], "biological_process": [ { "name": "protein refolding", "id": "GO:0042026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042026", "evidence": [ { "database": "UniProtKB", "id": "B0UXR9", "url": "https://www.uniprot.org/uniprotkb/B0UXR9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.10" }, { "uniprot_canonical_ac": "B0UY88-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "B0UY88", "url": "https://www.uniprot.org/uniprotkb/B0UY88" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 288, "chemical_mass": 32235.0, "gene_names": "f3b;f3b;zgc:112151", "protein_name": "Tissue factor", "disease": [ { "disease_id": "DOID:0050156", "name": "idiopathic pulmonary fibrosis", "description": "A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe.", "url": "https://disease-ontology.org/term/DOID:0050156", "evidence": [ { "id": "0050156", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050156" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:0070004", "name": "myeloid neoplasm", "description": "A bone marrow cancer that is formed of any one of the bone marrow cells belonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages.", "url": "https://disease-ontology.org/term/DOID:0070004", "evidence": [ { "id": "0070004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070004" } ], "weight": 0.0 }, { "disease_id": "DOID: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:0080630", "name": "B-lymphoblastic leukemia/lymphoma", "description": "A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow.", "url": "https://disease-ontology.org/term/DOID:0080630", "evidence": [ { "id": "0080630", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080630" } ], "weight": 0.0 }, { "disease_id": "DOID:0081267", "name": "graft-versus-host disease", "description": "An immune system disease that is characterized by recognition by mature donor T cells, that contaminate the allogeneic bone marrow, of the recipient's tissue as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease, and that has_material_basis_in an associated with variation in the interleukin-10 gene (IL10) on chromosome 1q32.", "url": "https://disease-ontology.org/term/DOID:0081267", "evidence": [ { "id": "0081267", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081267" } ], "weight": 0.0 }, { "disease_id": "DOID:0111144", "name": "preterm premature rupture of the membranes", "description": "A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation.", "url": "https://disease-ontology.org/term/DOID:0111144", "evidence": [ { "id": "0111144", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111144" } ], "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: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: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: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: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:12531", "name": "von Willebrand's disease", "description": "A hemophilia that is a hereditary abnormality which slows the blood clotting process. It arises from a qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion.", "url": "https://disease-ontology.org/term/DOID:12531", "evidence": [ { "id": "12531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12531" } ], "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:3410", "name": "carotid artery thrombosis", "description": "", "url": "https://disease-ontology.org/term/DOID:3410", "evidence": [ { "id": "3410", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3410" } ], "weight": 0.0 }, { "disease_id": "DOID:4138", "name": "bile duct disease", "description": "A biliary tract disease located_in one or more bile ducts.", "url": "https://disease-ontology.org/term/DOID:4138", "evidence": [ { "id": "4138", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4138" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:5425", "name": "ovarian hyperstimulation syndrome", "description": "An ovarian disease that is characterized by cystic enlargement of the ovaries and a fluid shift from the intravascular to the third space and has_symptom abdominal pain, has_symptom nausea and has_symptom vomiting. 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"pmid": "" } ], "biological_process": [ { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "B0UZC8", "url": "https://www.uniprot.org/uniprotkb/B0UZC8" } ], "pmid": "" }, { "name": "negative regulation of BMP signaling pathway", "id": "GO:0030514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030514", "evidence": [ { "database": "UniProtKB", "id": "B0UZC8", "url": "https://www.uniprot.org/uniprotkb/B0UZC8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.10" }, { "uniprot_canonical_ac": "B0V153-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "B0V153", "url": "https://www.uniprot.org/uniprotkb/B0V153" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 656, "chemical_mass": 74655.0, "gene_names": "mthfr;fa92h12;im:7144504;mthfr;si:dkeyp-100a1.4;wu:fa92h12", "protein_name": "Methylenetetrahydrofolate reductase (NADPH)", "disease": [ { "disease_id": "DOID:0050589", "name": "inflammatory bowel disease", "description": "An intestinal disease characterized by inflammation located in all parts of digestive tract.", "url": "https://disease-ontology.org/term/DOID:0050589", "evidence": [ { "id": "0050589", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050589" } ], "weight": 0.0 }, { "disease_id": "DOID:0050745", "name": "diffuse large B-cell lymphoma", "description": "A large B-cell lymphoma that is consisting of medium-sized to large B cells with a diffuse growth pattern.", "url": "https://disease-ontology.org/term/DOID:0050745", "evidence": [ { "id": "0050745", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050745" } ], "weight": 0.0 }, { "disease_id": "DOID:0050830", "name": "peripheral artery disease", "description": "An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs.", "url": "https://disease-ontology.org/term/DOID:0050830", "evidence": [ { "id": "0050830", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050830" } ], "weight": 0.0 }, { "disease_id": "DOID:0050864", "name": "non-arteritic anterior ischemic optic neuropathy", "description": "An anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by acute ischemic damage to the optic nerve due to non-inflammatory small vessel disease.", "url": "https://disease-ontology.org/term/DOID:0050864", "evidence": [ { "id": "0050864", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050864" } ], "weight": 0.0 }, { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID:0051054", "name": "coarctation of the aorta", "description": "A congenital heart disease that is characterized by the luminal narrowing of the thoracic aortic arch, typically located just beyond the left subclavian artery. This narrowing creates an obstruction that can lead to significant cardiovascular complications, including systemic hypertension, left ventricular hypertrophy, and eventually heart failure.", "url": "https://disease-ontology.org/term/DOID:0051054", "evidence": [ { "id": "0051054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051054" } ], "weight": 0.0 }, { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:0060770", "name": "dextro-looped transposition of the great arteries", "description": "A congenital heart disease characterized by complete inversion of the great vessels where the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle.", "url": "https://disease-ontology.org/term/DOID:0060770", "evidence": [ { "id": "0060770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060770" } ], "weight": 0.0 }, { "disease_id": "DOID:0070004", "name": "myeloid neoplasm", "description": "A bone marrow cancer that is formed of any one of the bone marrow cells belonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages.", "url": "https://disease-ontology.org/term/DOID:0070004", "evidence": [ { "id": "0070004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070004" } ], "weight": 0.0 }, { "disease_id": "DOID:0080016", "name": "spina bifida", "description": "A neural tube defect that is characterized by incomplete closing of the spine and membranes around the spinal cord during early development.", "url": "https://disease-ontology.org/term/DOID:0080016", "evidence": [ { "id": "0080016", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080016" } ], "weight": 0.0 }, { "disease_id": "DOID:0080074", "name": "neural tube defect", "description": "A physical disorder characterized by incomplete closure of the neural tube.", "url": "https://disease-ontology.org/term/DOID:0080074", "evidence": [ { "id": "0080074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080074" } ], "weight": 0.0 }, { "disease_id": "DOID:0080177", "name": "hepatic veno-occlusive disease", "description": "A hepatic vascular disease that is characterized by obstruction of some of the small veins of the liver.", "url": "https://disease-ontology.org/term/DOID:0080177", "evidence": [ { "id": "0080177", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080177" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0081267", "name": "graft-versus-host disease", "description": "An immune system disease that is characterized by recognition by mature donor T cells, that contaminate the allogeneic bone marrow, of the recipient's tissue as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease, and that has_material_basis_in an associated with variation in the interleukin-10 gene (IL10) on chromosome 1q32.", "url": "https://disease-ontology.org/term/DOID:0081267", "evidence": [ { "id": "0081267", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081267" } ], "weight": 0.0 }, { "disease_id": "DOID:0111907", "name": "thrombophilia due to thrombin defect", "description": "A thrombophilia characterized by recurrent thrombophilia that has_material_basis_in heterozygous mutation in F2 on chromosome 11p11.2.", "url": "https://disease-ontology.org/term/DOID:0111907", "evidence": [ { "id": "0111907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111907" } ], "weight": 0.0 }, { "disease_id": "DOID:10024", "name": "migraine with aura", "description": "A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon.", "url": "https://disease-ontology.org/term/DOID:10024", "evidence": [ { "id": "10024", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10024" } ], "weight": 0.0 }, { "disease_id": "DOID:1067", "name": "open-angle glaucoma", "description": "A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage.", "url": "https://disease-ontology.org/term/DOID:1067", "evidence": [ { "id": "1067", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1067" } ], "weight": 0.0 }, { "disease_id": "DOID:1074", "name": "kidney failure", "description": "A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood.", "url": "https://disease-ontology.org/term/DOID:1074", "evidence": [ { "id": "1074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1074" } ], "weight": 0.0 }, { "disease_id": "DOID:10873", "name": "Kuhnt-Junius degeneration", "description": "", "url": "https://disease-ontology.org/term/DOID:10873", "evidence": [ { "id": "10873", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10873" } ], "weight": 0.0 }, { "disease_id": "DOID:10923", "name": "sickle cell anemia", "description": "A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain.", "url": "https://disease-ontology.org/term/DOID:10923", "evidence": [ { "id": "10923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10923" } ], "weight": 0.0 }, { "disease_id": "DOID:1094", "name": "attention deficit hyperactivity disorder", "description": "A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age.", "url": "https://disease-ontology.org/term/DOID:1094", "evidence": [ { "id": "1094", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1094" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:11512", "name": "Budd-Chiari syndrome", "description": "A hepatic vascular disease that is characterized by a spectrum of disease states, including anatomic abnormalities and hypercoagulable disorders, resulting in hepatic venous outflow occlusion.", "url": "https://disease-ontology.org/term/DOID:11512", "evidence": [ { "id": "11512", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11512" } ], "weight": 0.0 }, { "disease_id": "DOID:11664", "name": "nephrosclerosis", "description": "", "url": "https://disease-ontology.org/term/DOID:11664", "evidence": [ { "id": "11664", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11664" } ], "weight": 0.0 }, { "disease_id": "DOID:11695", "name": "portal vein thrombosis", "description": "A hepatic vascular disease that is characterized by a blood clot that forms within the hepatic portal vein.", "url": "https://disease-ontology.org/term/DOID:11695", "evidence": [ { "id": "11695", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11695" } ], "weight": 0.0 }, { "disease_id": "DOID:12134", "name": "factor VIII deficiency", "description": "A hemophilia that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged.", "url": "https://disease-ontology.org/term/DOID:12134", "evidence": [ { "id": "12134", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12134" } ], "weight": 0.0 }, { "disease_id": "DOID:12336", "name": "male infertility", "description": "", "url": "https://disease-ontology.org/term/DOID:12336", "evidence": [ { "id": "12336", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12336" } ], "weight": 0.0 }, { "disease_id": "DOID:12361", "name": "Graves' disease", "description": "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.", "url": "https://disease-ontology.org/term/DOID:12361", "evidence": [ { "id": "12361", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12361" } ], "weight": 0.0 }, { "disease_id": "DOID:1287", "name": "cardiovascular system disease", "description": "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.", "url": "https://disease-ontology.org/term/DOID:1287", "evidence": [ { "id": "1287", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1287" } ], "weight": 0.0 }, { "disease_id": "DOID:13001", "name": "carotid stenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:13001", "evidence": [ { "id": "13001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13001" } ], "weight": 0.0 }, { "disease_id": "DOID:13550", "name": "angle-closure glaucoma", "description": "A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis.", "url": "https://disease-ontology.org/term/DOID:13550", "evidence": [ { "id": "13550", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13550" } ], "weight": 0.0 }, { "disease_id": "DOID:14018", "name": "alcoholic liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:14018", "evidence": [ { "id": "14018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14018" } ], "weight": 0.0 }, { "disease_id": "DOID:14250", "name": "Down syndrome", "description": "A chromosomal duplication syndrome that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability.", "url": "https://disease-ontology.org/term/DOID:14250", "evidence": [ { "id": "14250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14250" } ], "weight": 0.0 }, { "disease_id": "DOID:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:1459", "evidence": [ { "id": "1459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ], "weight": 0.0 }, { "disease_id": "DOID:1588", "name": "thrombocytopenia", "description": "A blood platelet disease that is characterized by low a platelet count in the blood.", "url": "https://disease-ontology.org/term/DOID:1588", "evidence": [ { "id": "1588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1588" } ], "weight": 0.0 }, { "disease_id": "DOID:1727", "name": "retinal vein occlusion", "description": "", "url": "https://disease-ontology.org/term/DOID:1727", "evidence": [ { "id": "1727", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1727" } ], "weight": 0.0 }, { "disease_id": "DOID:1749", "name": "squamous cell carcinoma", "description": "A carcinoma that derives_from squamous epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1749", "evidence": [ { "id": "1749", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1749" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID:1984", "name": "rectal benign neoplasm", "description": "An intestinal benign neoplasm located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:1984", "evidence": [ { "id": "1984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1984" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID:2154", "name": "nephroblastoma", "description": "A kidney cancer that affects the kidneys and typically occuring in children.", "url": "https://disease-ontology.org/term/DOID:2154", "evidence": [ { "id": "2154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2154" } ], "weight": 0.0 }, { "disease_id": "DOID:2355", "name": "anemia", "description": "A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.", "url": "https://disease-ontology.org/term/DOID:2355", "evidence": [ { "id": "2355", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2355" } ], "weight": 0.0 }, { "disease_id": "DOID:2388", "name": "renal artery disease", "description": "", "url": "https://disease-ontology.org/term/DOID:2388", "evidence": [ { "id": "2388", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2388" } ], "weight": 0.0 }, { "disease_id": "DOID:2452", "name": "thrombophilia", "description": "A blood coagulation disease that is characterized by an increased tendency to form clots.", "url": "https://disease-ontology.org/term/DOID:2452", "evidence": [ { "id": "2452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2452" } ], "weight": 0.0 }, { "disease_id": "DOID:2671", "name": "transitional cell carcinoma", "description": "A carcinoma that derives_from transitional epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2671", "evidence": [ { "id": "2671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2671" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney.", "url": "https://disease-ontology.org/term/DOID:2921", "evidence": [ { "id": "2921", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ], "weight": 0.0 }, { "disease_id": "DOID:2987", "name": "familial Mediterranean fever", "description": "An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.", "url": "https://disease-ontology.org/term/DOID:2987", "evidence": [ { "id": "2987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2987" } ], "weight": 0.0 }, { "disease_id": "DOID:3146", "name": "lipid metabolism disorder", "description": "An inherited metabolic disorder that involves the creation and degradation of lipids.", "url": "https://disease-ontology.org/term/DOID:3146", "evidence": [ { "id": "3146", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3146" } ], "weight": 0.0 }, { "disease_id": "DOID:326", "name": "ischemia", "description": "A vascular disease that is characterized by a restriction in blood supply to tissues.", "url": "https://disease-ontology.org/term/DOID:326", "evidence": [ { "id": "326", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:326" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:3347", "name": "osteosarcoma", "description": "A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus).", "url": "https://disease-ontology.org/term/DOID:3347", "evidence": [ { "id": "3347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3347" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "weight": 0.0 }, { "disease_id": "DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix.", "url": "https://disease-ontology.org/term/DOID:4362", "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4467", "name": "clear cell renal cell carcinoma", "description": "A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope.", "url": "https://disease-ontology.org/term/DOID:4467", "evidence": [ { "id": "4467", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4467" } ], "weight": 0.0 }, { "disease_id": "DOID:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4947", "evidence": [ { "id": "4947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4947" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:5409", "evidence": [ { "id": "5409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5409" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:5614", "name": "eye disease", "description": "An eye and adnexa disease that is located_in the eye.", "url": "https://disease-ontology.org/term/DOID:5614", "evidence": [ { "id": "5614", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5614" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:61", "name": "mitral valve disease", "description": "", "url": "https://disease-ontology.org/term/DOID:61", "evidence": [ { "id": "61", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:61" } ], "weight": 0.0 }, { "disease_id": "DOID:6364", "name": "migraine", "description": "A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing.", "url": "https://disease-ontology.org/term/DOID:6364", "evidence": [ { "id": "6364", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6364" } ], "weight": 0.0 }, { "disease_id": "DOID:6419", "name": "tetralogy of Fallot", "description": "", "url": "https://disease-ontology.org/term/DOID:6419", "evidence": [ { "id": "6419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6419" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:7147", "name": "ankylosing spondylitis", "description": "An arthritis that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.", "url": "https://disease-ontology.org/term/DOID:7147", "evidence": [ { "id": "7147", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7147" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", "evidence": [ { "id": "7693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:784", "name": "chronic kidney disease", "description": "A kidney failure that is characterized by the gradual loss of kidney function, present for a minimum of 3 months. CKD is classified based on cause, glomerular filtration rate (GFR) category (G2-G5), and albuminuria category (A1-A3).", "url": "https://disease-ontology.org/term/DOID:784", "evidence": [ { "id": "784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:784" } ], "weight": 0.0 }, { "disease_id": "DOID:7998", "name": "hyperthyroidism", "description": "A thyroid gland disease that involves an over production of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:7998", "evidence": [ { "id": "7998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7998" } ], "weight": 0.0 }, { "disease_id": "DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.", "url": "https://disease-ontology.org/term/DOID:83", "evidence": [ { "id": "83", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:83" } ], "weight": 0.0 }, { "disease_id": "DOID:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells.", "url": "https://disease-ontology.org/term/DOID:8552", "evidence": [ { "id": "8552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8552" } ], "weight": 0.0 }, { "disease_id": "DOID:8736", "name": "smallpox", "description": "A viral infectious disease that results in infection located in skin, has_material_basis_in Variola virus (Orthopoxvirus variola), which is transmitted by droplets from oral, nasal or pharyngeal mucosa, transmitted by contact with the body fluids, or transmitted by fomites. The infection results in formation of lesions, first on the face, hands and forearms and later on the trunk.", "url": "https://disease-ontology.org/term/DOID:8736", "evidence": [ { "id": "8736", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8736" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:916", "name": "liver benign neoplasm", "description": "", "url": "https://disease-ontology.org/term/DOID:916", "evidence": [ { "id": "916", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:916" } ], "weight": 0.0 }, { "disease_id": "DOID:9279", "name": "hyperhomocysteinemia", "description": "An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood.", "url": "https://disease-ontology.org/term/DOID:9279", "evidence": [ { "id": "9279", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9279" } ], "weight": 0.0 }, { "disease_id": "DOID:9296", "name": "cleft lip", "description": "An orofacial cleft that is characterized by a congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences.", "url": "https://disease-ontology.org/term/DOID:9296", "evidence": [ { "id": "9296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9296" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9406", "name": "hypopituitarism", "description": "A pituitary gland disease characterized by the decreased secretion of one or more of the eight hormones normally produced by the pituitary gland.", "url": "https://disease-ontology.org/term/DOID:9406", "evidence": [ { "id": "9406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9406" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID:9663", "name": "aphthous stomatitis", "description": "A stomatitis characterized by the repeated formation of benign and non-contagious mouth ulcers.", "url": "https://disease-ontology.org/term/DOID:9663", "evidence": [ { "id": "9663", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9663" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9849", "name": "Meniere's disease", "description": "A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss.", "url": "https://disease-ontology.org/term/DOID:9849", "evidence": [ { "id": "9849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9849" } ], "weight": 0.0 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "B0V153", "url": "https://www.uniprot.org/uniprotkb/B0V153" } ], "pmid": "" } ], "molecular_function": [ { "name": "FAD binding", "id": "GO:0071949", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071949", "evidence": [ { "database": "UniProtKB", "id": "B0V153", "url": "https://www.uniprot.org/uniprotkb/B0V153" } ], "pmid": "" }, { "name": "methylenetetrahydrofolate reductase [NAD(P)H] activity", "id": "GO:0004489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004489", "evidence": [ { "database": "UniProtKB", "id": "B0V153", "url": "https://www.uniprot.org/uniprotkb/B0V153" } ], "pmid": "" }, { "name": "methylenetetrahydrofolate reductase (NADPH) activity", "id": "GO:0106313", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106313", "evidence": [ { "database": "UniProtKB", "id": "B0V153", "url": "https://www.uniprot.org/uniprotkb/B0V153" } ], "pmid": "" } ], "biological_process": [ { "name": "tetrahydrofolate interconversion", "id": "GO:0035999", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035999", "evidence": [ { "database": "UniProtKB", "id": "B0V153", "url": "https://www.uniprot.org/uniprotkb/B0V153" } ], "pmid": "" }, { "name": "methionine biosynthetic process", "id": "GO:0009086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009086", "evidence": [ { "database": "UniProtKB", "id": "B0V153", "url": "https://www.uniprot.org/uniprotkb/B0V153" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "B0V153-1", "start_pos": "560", "end_pos": "560", "site_lbl": "Thr560", "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": 560, "start_aa": "Thr", "end_pos": 560, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr560", "evidence": [ { "id": "", "database": "GlyGen", "url": "https://data.glygen.org/" } ] } ] } ], "record_id": "batch.zebrafish.10" }, { "uniprot_canonical_ac": "B0V1I9-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "B0V1I9", "url": "https://www.uniprot.org/uniprotkb/B0V1I9" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 360, "chemical_mass": 41037.0, "gene_names": "ghsra;ghsra;si:ch211-244m8.1", "protein_name": "Growth hormone secretagogue receptor type 1", "disease": [ { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "B0V1I9", "url": "https://www.uniprot.org/uniprotkb/B0V1I9" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "B0V1I9", "url": "https://www.uniprot.org/uniprotkb/B0V1I9" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "B0V1I9", "url": "https://www.uniprot.org/uniprotkb/B0V1I9" } ], "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": "B0V1I9", "url": "https://www.uniprot.org/uniprotkb/B0V1I9" } ], "pmid": "" }, { "name": "hormone-mediated signaling pathway", "id": "GO:0009755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009755", "evidence": [ { "database": "UniProtKB", "id": "B0V1I9", "url": "https://www.uniprot.org/uniprotkb/B0V1I9" } ], "pmid": "" } ], "molecular_function": [ { "name": "growth hormone secretagogue receptor activity", "id": "GO:0001616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001616", "evidence": [ { "database": "UniProtKB", "id": "B0V1I9", "url": "https://www.uniprot.org/uniprotkb/B0V1I9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.10" }, { "uniprot_canonical_ac": "B0V1J1-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "B0V1J1", "url": "https://www.uniprot.org/uniprotkb/B0V1J1" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 1022, "chemical_mass": 117865.0, "gene_names": "pld1a;pld1a;pld1;si:ch211-244m8.2", "protein_name": "Phospholipase", "disease": [ { "disease_id": "DOID:0080633", "name": "developmental cardiac valvular defect", "description": "A physical disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PLD1 gene on chromosome 3q26.", "url": "https://disease-ontology.org/term/DOID:0080633", "evidence": [ { "id": "0080633", "database": "AGR", "url": 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"GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "B0V1J1", "url": "https://www.uniprot.org/uniprotkb/B0V1J1" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "B0V1J1", "url": "https://www.uniprot.org/uniprotkb/B0V1J1" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "B0V1J1", "url": "https://www.uniprot.org/uniprotkb/B0V1J1" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "B0V1J1", "url": "https://www.uniprot.org/uniprotkb/B0V1J1" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": 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"nucleosome array spacer activity", "id": "GO:0140750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140750", "evidence": [ { "database": "UniProtKB", "id": "B8A552", "url": "https://www.uniprot.org/uniprotkb/B8A552" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "B8A552", "url": "https://www.uniprot.org/uniprotkb/B8A552" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "B8A552", "url": "https://www.uniprot.org/uniprotkb/B8A552" } ], "pmid": "" }, { "name": "ISWI-type complex", "id": "GO:0031010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031010", "evidence": [ { "database": "UniProtKB", "id": "B8A552", "url": "https://www.uniprot.org/uniprotkb/B8A552" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], 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"name": "positive regulation of cell growth", "id": "GO:0030307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030307", "evidence": [ { "database": "UniProtKB", "id": "B8A556", "url": "https://www.uniprot.org/uniprotkb/B8A556" } ], "pmid": "" }, { "name": "purine nucleotide catabolic process", "id": "GO:0006195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006195", "evidence": [ { "database": "UniProtKB", "id": "B8A556", "url": "https://www.uniprot.org/uniprotkb/B8A556" } ], "pmid": "" }, { "name": "deoxyribonucleoside monophosphate catabolic process", "id": "GO:0009159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009159", "evidence": [ { "database": "UniProtKB", "id": "B8A556", "url": "https://www.uniprot.org/uniprotkb/B8A556" } ], "pmid": "" }, { "name": "nucleoside salvage", "id": "GO:0043174", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043174", "evidence": [ { "database": "UniProtKB", "id": "B8A556", "url": "https://www.uniprot.org/uniprotkb/B8A556" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "B8A556", "url": "https://www.uniprot.org/uniprotkb/B8A556" } ], "pmid": "" }, { "name": "5-hydroxymethyl-dUMP N-hydrolase activity", "id": "GO:0070694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070694", "evidence": [ { "database": "UniProtKB", "id": "B8A556", "url": "https://www.uniprot.org/uniprotkb/B8A556" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.10" }, { "uniprot_canonical_ac": "B8A568-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "B8A568", "url": "https://www.uniprot.org/uniprotkb/B8A568" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 1937, "chemical_mass": 222150.0, "gene_names": "myhz1.1;cb20;etID37302.5;fb37e12;fmyhc1.1;myhc3;myhc4;myhz1.1;myhz1;myo2hc1;sb:cb20;si:ch211-158m24.7;wu:fb26a08;wu:fb26f12;wu:fb37e12", "protein_name": "", "disease": [ { "disease_id": "DOID:0050646", "name": "distal arthrogryposis", "description": "A muscle tissue disease characterized by congenital joint contractures of hand and feet.", "url": "https://disease-ontology.org/term/DOID:0050646", "evidence": [ { "id": "0050646", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050646" } ], "weight": 0.0 }, { "disease_id": "DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:0050700", "evidence": [ { "id": "0050700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050700" } ], "weight": 0.0 }, { "disease_id": "DOID:0080326", "name": "familial hypertrophic cardiomyopathy", 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"disease_id": "DOID:0080954", "name": "arthrogryposis multiplex congenita", "description": "A nervous system disease that is characterized by development of multiple joint contractures affecting two or more areas of the body prior to birth.", "url": "https://disease-ontology.org/term/DOID:0080954", "evidence": [ { "id": "0080954", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080954" } ], "weight": 0.0 }, { "disease_id": "DOID:0110454", "name": "dilated cardiomyopathy 1S", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the MYH7 gene on chromosome 14q12.", "url": "https://disease-ontology.org/term/DOID:0110454", "evidence": [ { "id": "0110454", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110454" } ], "weight": 0.0 }, { "disease_id": "DOID:0111269", "name": "autosomal dominant hyaline body myopathy", "description": "A hyaline body myopathy that has_material_basis_in heterozygous mutation in MYH7 on 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"evidence": [ { "database": "UniProtKB", "id": "B8JKC0", "url": "https://www.uniprot.org/uniprotkb/B8JKC0" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "B8JKC0", "url": "https://www.uniprot.org/uniprotkb/B8JKC0" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "B8JKC0", "url": "https://www.uniprot.org/uniprotkb/B8JKC0" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "B8JKC0", "url": "https://www.uniprot.org/uniprotkb/B8JKC0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.10" }, { "uniprot_canonical_ac": "B8JKD5-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "B8JKD5", "url": "https://www.uniprot.org/uniprotkb/B8JKD5" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 526, "chemical_mass": 59950.0, "gene_names": "cyp1b1;CYP1B;zgc:136223", "protein_name": "Cytochrome P450 1A", "disease": [ { "disease_id": "DOID:0060673", "name": "Peters anomaly", "description": "A corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and Descemet membrane that has_material_basis_in mutation in the PAX6 gene on chromosome 11p13, the PITX2 gene on chromosome 4q25, the CYP1B1 gene on chromosome 2p22.2, or the FOXC1 gene on chromosome 6p25.3.", "url": "https://disease-ontology.org/term/DOID:0060673", "evidence": [ { "id": "0060673", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060673" } ], "weight": 0.0 }, { "disease_id": "DOID:0080611", "name": "anterior segment dysgenesis 6", "description": "An anterior segment dysgenesis that has_material_basis_in compound heterozygous mutation in the CYP1B1 gene on 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:1070", "name": "primary open angle glaucoma", "description": "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure.", "url": "https://disease-ontology.org/term/DOID:1070", "evidence": [ { "id": "1070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1070" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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: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": "estrogen metabolic process", "id": "GO:0008210", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008210", "evidence": [ { "database": "UniProtKB", "id": "B8JKD5", "url": "https://www.uniprot.org/uniprotkb/B8JKD5" } ], "pmid": "" }, { "name": "xenobiotic catabolic process", "id": "GO:0042178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042178", "evidence": [ { "database": "UniProtKB", "id": "B8JKD5", "url": "https://www.uniprot.org/uniprotkb/B8JKD5" } ], "pmid": "" }, { "name": "toxin metabolic process", "id": "GO:0009404", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009404", "evidence": [ { "database": "UniProtKB", "id": "B8JKD5", "url": "https://www.uniprot.org/uniprotkb/B8JKD5" } ], "pmid": "" }, { "name": "eye development", "id": "GO:0001654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001654", "evidence": [ { "database": "UniProtKB", "id": "B8JKD5", "url": "https://www.uniprot.org/uniprotkb/B8JKD5" } ], "pmid": "" }, { "name": "steroid catabolic process", "id": "GO:0006706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006706", "evidence": [ { "database": "UniProtKB", "id": "B8JKD5", "url": "https://www.uniprot.org/uniprotkb/B8JKD5" } ], "pmid": "" } ], "molecular_function": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "B8JKD5", "url": "https://www.uniprot.org/uniprotkb/B8JKD5" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "B8JKD5", "url": "https://www.uniprot.org/uniprotkb/B8JKD5" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen", "id": "GO:0016712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016712", "evidence": [ { "database": "UniProtKB", "id": "B8JKD5", "url": "https://www.uniprot.org/uniprotkb/B8JKD5" } ], "pmid": "" }, { "name": "steroid hydroxylase activity", "id": "GO:0008395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008395", "evidence": [ { "database": "UniProtKB", "id": "B8JKD5", "url": "https://www.uniprot.org/uniprotkb/B8JKD5" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "B8JKD5", "url": "https://www.uniprot.org/uniprotkb/B8JKD5" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "B8JKD5", "url": "https://www.uniprot.org/uniprotkb/B8JKD5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.10" }, { "uniprot_canonical_ac": "B8JKQ1-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "B8JKQ1", "url": "https://www.uniprot.org/uniprotkb/B8JKQ1" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 757, "chemical_mass": 88802.0, "gene_names": "esf1;esf1;fe06g12;im:7138472;wu:fe06g12;zgc:66241", "protein_name": "", "disease": [], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "B8JKQ1", "url": "https://www.uniprot.org/uniprotkb/B8JKQ1" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "B8JKQ1", "url": "https://www.uniprot.org/uniprotkb/B8JKQ1" } ], "pmid": "" } ], "biological_process": [ { "name": "neural crest cell development", "id": "GO:0014032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014032", "evidence": [ { "database": "UniProtKB", "id": "B8JKQ1", "url": "https://www.uniprot.org/uniprotkb/B8JKQ1" } ], "pmid": "" }, { "name": "pharyngeal system development", "id": "GO:0060037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060037", "evidence": [ { "database": "UniProtKB", "id": "B8JKQ1", "url": "https://www.uniprot.org/uniprotkb/B8JKQ1" } ], "pmid": "" }, { "name": "rRNA processing", "id": "GO:0006364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006364", "evidence": [ { "database": "UniProtKB", "id": "B8JKQ1", "url": "https://www.uniprot.org/uniprotkb/B8JKQ1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.10" }, { "uniprot_canonical_ac": "B8JKS6-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "B8JKS6", "url": "https://www.uniprot.org/uniprotkb/B8JKS6" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 689, "chemical_mass": 75160.0, "gene_names": "tbx3a;tbx-b;tbx3a;tbx3b;tbx3;tbxb;zgc:158110", "protein_name": "", "disease": [ { "disease_id": "DOID:0060614", "name": "ulnar-mammary syndrome", "description": "A syndrome that is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies and that has_material_basis_in heterozygous mutation in the TBX3 gene.", "url": "https://disease-ontology.org/term/DOID:0060614", "evidence": [ { "id": "0060614", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060614" } ], "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: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: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 } ], "biological_process": [ { "name": "cell fate specification", "id": "GO:0001708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001708", "evidence": [ { "database": "UniProtKB", "id": "B8JKS6", "url": "https://www.uniprot.org/uniprotkb/B8JKS6" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "B8JKS6", "url": "https://www.uniprot.org/uniprotkb/B8JKS6" } ], "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": "B8JKS6", "url": "https://www.uniprot.org/uniprotkb/B8JKS6" } ], "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": "B8JKS6", "url": "https://www.uniprot.org/uniprotkb/B8JKS6" } ], "pmid": "" }, { "name": "embryonic heart tube development", "id": "GO:0035050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035050", "evidence": [ { "database": "UniProtKB", "id": "B8JKS6", "url": "https://www.uniprot.org/uniprotkb/B8JKS6" } ], "pmid": "" }, { "name": "anatomical structure morphogenesis", "id": "GO:0009653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009653", "evidence": [ { "database": "UniProtKB", "id": "B8JKS6", "url": "https://www.uniprot.org/uniprotkb/B8JKS6" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "B8JKS6", "url": "https://www.uniprot.org/uniprotkb/B8JKS6" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "B8JKS6", "url": "https://www.uniprot.org/uniprotkb/B8JKS6" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "B8JKS6", "url": "https://www.uniprot.org/uniprotkb/B8JKS6" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "B8JKS6", "url": "https://www.uniprot.org/uniprotkb/B8JKS6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.10" }, { "uniprot_canonical_ac": "B8JLJ7-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "B8JLJ7", "url": "https://www.uniprot.org/uniprotkb/B8JLJ7" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 359, "chemical_mass": 42155.0, "gene_names": "gnaq;gnaq;si:ch73-270f14.2", "protein_name": "Guanine nucleotide-binding protein subunit alpha", "disease": [ { "disease_id": "DOID:0111529", "name": "familial multiple nevi flammei", "description": "A capillary disease characterized by dark red to purple, nonelevated, sharply circumscribed patches which blanch on pressure with a glass, do not spontaneously regress, and have normal rates endothelial cell turnover.", "url": "https://disease-ontology.org/term/DOID:0111529", "evidence": [ { "id": "0111529", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111529" } ], "weight": 0.0 }, { "disease_id": "DOID:0111563", "name": "Sturge-Weber syndrome", "description": "A vascular disease characterized by intracranial vascular anomaly, leptomeningeal angiomatosis, facial cutaneous vascular malformations, and glaucoma that has_material_basis_in somatic mutation in the GNAQ gene on chromosome 9q21.2.", "url": "https://disease-ontology.org/term/DOID:0111563", "evidence": [ { "id": "0111563", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111563" } ], "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: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: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 } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "B8JLJ7", "url": "https://www.uniprot.org/uniprotkb/B8JLJ7" } ], "pmid": "" }, { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "B8JLJ7", "url": "https://www.uniprot.org/uniprotkb/B8JLJ7" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "B8JLJ7", "url": "https://www.uniprot.org/uniprotkb/B8JLJ7" } ], "pmid": "" }, { "name": 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"pmid": "" } ], "molecular_function": [ { "name": "phosphatidylinositol-4,5-bisphosphate binding", "id": "GO:0005546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005546", "evidence": [ { "database": "UniProtKB", "id": "E7EZP2", "url": "https://www.uniprot.org/uniprotkb/E7EZP2" } ], "pmid": "" } ], "biological_process": [ { "name": "TORC2 signaling", "id": "GO:0038203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038203", "evidence": [ { "database": "UniProtKB", "id": "E7EZP2", "url": "https://www.uniprot.org/uniprotkb/E7EZP2" } ], "pmid": "" }, { "name": "regulation of cell projection assembly", "id": "GO:0060491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060491", "evidence": [ { "database": "UniProtKB", "id": "E7EZP2", "url": "https://www.uniprot.org/uniprotkb/E7EZP2" } ], "pmid": "" }, { "name": "cell migration involved in mesendoderm migration", "id": "GO:0090134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090134", "evidence": [ { "database": "UniProtKB", "id": 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"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: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: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 } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "E7F2M5", "url": "https://www.uniprot.org/uniprotkb/E7F2M5" } ], "pmid": "" }, { "name": "side of membrane", "id": "GO:0098552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098552", "evidence": [ { "database": "UniProtKB", "id": "E7F2M5", "url": "https://www.uniprot.org/uniprotkb/E7F2M5" } ], "pmid": "" } ], "biological_process": [ { "name": "defense response to Gram-negative bacterium", "id": "GO:0050829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050829", "evidence": [ { "database": "UniProtKB", "id": "E7F2M5", "url": "https://www.uniprot.org/uniprotkb/E7F2M5" } ], "pmid": "" }, { "name": "defense response to Gram-positive bacterium", "id": "GO:0050830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050830", "evidence": [ { "database": "UniProtKB", "id": "E7F2M5", "url": "https://www.uniprot.org/uniprotkb/E7F2M5" } ], "pmid": "" } ], "molecular_function": [ { "name": "lipopolysaccharide binding", "id": "GO:0001530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001530", "evidence": [ { "database": "UniProtKB", "id": "E7F2M5", "url": "https://www.uniprot.org/uniprotkb/E7F2M5" } ], "pmid": "" }, { "name": "lipoteichoic acid binding", "id": "GO:0070891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070891", "evidence": [ { "database": "UniProtKB", "id": "E7F2M5", "url": "https://www.uniprot.org/uniprotkb/E7F2M5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "E7F2M7-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "E7F2M7", "url": "https://www.uniprot.org/uniprotkb/E7F2M7" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 1459, "chemical_mass": 163224.0, "gene_names": "recql4;recql4", "protein_name": "ATP-dependent DNA helicase Q4", "disease": [ { "disease_id": "DOID:0050654", "name": "Baller-Gerold syndrome", "description": "A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone.", "url": "https://disease-ontology.org/term/DOID:0050654", "evidence": [ { "id": "0050654", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050654" } ], "weight": 0.0 }, { "disease_id": "DOID:0050774", "name": "rapadilino syndrome", "description": "A syndrome that is characterized by radial ray defect, patellae hypoplasia, cleft palate, diarrhea, dislocated joints, limb malformations, long nose and normal intelligence, has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24.", "url": "https://disease-ontology.org/term/DOID:0050774", "evidence": [ { "id": "0050774", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050774" } ], "weight": 0.0 }, { "disease_id": "DOID:2732", "name": "Rothmund-Thomson syndrome", "description": "A skin disease characterized by poikiloderma, congenital bone defects, and an increased risk of osteosarcoma in childhood and skin cancer later in life that has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24.", "url": "https://disease-ontology.org/term/DOID:2732", "evidence": [ { "id": "2732", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2732" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "3'-5' DNA helicase activity", "id": "GO:0043138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043138", "evidence": [ { "database": "UniProtKB", "id": "E7F2M7", "url": "https://www.uniprot.org/uniprotkb/E7F2M7" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "E7F2M7", "url": "https://www.uniprot.org/uniprotkb/E7F2M7" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "E7F2M7", "url": "https://www.uniprot.org/uniprotkb/E7F2M7" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "E7F2M7", "url": "https://www.uniprot.org/uniprotkb/E7F2M7" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "E7F2M7", "url": "https://www.uniprot.org/uniprotkb/E7F2M7" } ], "pmid": "" }, { "name": "four-way junction helicase activity", "id": "GO:0009378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009378", "evidence": [ { "database": "UniProtKB", "id": "E7F2M7", "url": "https://www.uniprot.org/uniprotkb/E7F2M7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "E7F2M7", "url": "https://www.uniprot.org/uniprotkb/E7F2M7" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "E7F2M7", "url": "https://www.uniprot.org/uniprotkb/E7F2M7" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "E7F2M7", "url": "https://www.uniprot.org/uniprotkb/E7F2M7" } ], "pmid": "" } ], "biological_process": [ { "name": "telomere maintenance", "id": "GO:0000723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000723", "evidence": [ { "database": "UniProtKB", "id": "E7F2M7", "url": "https://www.uniprot.org/uniprotkb/E7F2M7" } ], "pmid": "" }, { "name": "DNA replication", "id": "GO:0006260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006260", "evidence": [ { "database": "UniProtKB", "id": "E7F2M7", "url": "https://www.uniprot.org/uniprotkb/E7F2M7" } ], "pmid": "" }, { "name": "double-strand break repair via homologous recombination", "id": "GO:0000724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000724", "evidence": [ { "database": "UniProtKB", "id": "E7F2M7", "url": "https://www.uniprot.org/uniprotkb/E7F2M7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "E7F2S4-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "E7F2S4", "url": "https://www.uniprot.org/uniprotkb/E7F2S4" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 788, "chemical_mass": 88188.0, "gene_names": "spg7;spg7", "protein_name": "Mitochondrial inner membrane m-AAA protease component paraplegin", "disease": [ { "disease_id": "DOID:0110816", "name": 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processing", "id": "GO:0034982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034982", "evidence": [ { "database": "UniProtKB", "id": "E7F2S4", "url": "https://www.uniprot.org/uniprotkb/E7F2S4" } ], "pmid": "" }, { "name": "anatomical structure morphogenesis", "id": "GO:0009653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009653", "evidence": [ { "database": "UniProtKB", "id": "E7F2S4", "url": "https://www.uniprot.org/uniprotkb/E7F2S4" } ], "pmid": "" } ], "cellular_component": [ { "name": "m-AAA complex", "id": "GO:0005745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005745", "evidence": [ { "database": "UniProtKB", "id": "E7F2S4", "url": "https://www.uniprot.org/uniprotkb/E7F2S4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "E7F2Y6-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "E7F2Y6", "url": "https://www.uniprot.org/uniprotkb/E7F2Y6" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 2282, "chemical_mass": 255434.0, "gene_names": "abca1b;abca1b;im:7136239;sb:cb407;wu:fa07e06;zgc:171581", "protein_name": "P-type phospholipid transporter", "disease": [ { "disease_id": "DOID:0080957", "name": "primary hypoalphalipoproteinemia 1", "description": "A hypolipoproteinemia that is characterized by low levels of high-density lipoprotein in the blood and that has_material_basis_in heterozygous mutation in the ABC1 gene on chromosome 9q31, which is also the site of mutations causing Tangier disease.", "url": "https://disease-ontology.org/term/DOID:0080957", "evidence": [ { "id": "0080957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080957" } ], "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: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:1387", "name": "hypolipoproteinemia", "description": "A lipid metabolism disorder that is characterized by unusually low levels of fats in the blood.", "url": "https://disease-ontology.org/term/DOID:1387", "evidence": [ { "id": "1387", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1387" } ], "weight": 0.0 }, { "disease_id": "DOID:1388", "name": "Tangier disease", "description": "A hypolipoproteinemia that is characterized by markedly reduced levels of plasma high density lipoproteins resulting in tissue accumulation of cholesterol esters and that has_material_basis_in homozygous or compound heterozygous 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"name": "90S preribosome", "id": "GO:0030686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030686", "evidence": [ { "database": "UniProtKB", "id": "E7F349", "url": "https://www.uniprot.org/uniprotkb/E7F349" } ], "pmid": "" }, { "name": "small-subunit processome", "id": "GO:0032040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032040", "evidence": [ { "database": "UniProtKB", "id": "E7F349", "url": "https://www.uniprot.org/uniprotkb/E7F349" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "E7F350-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "E7F350", "url": "https://www.uniprot.org/uniprotkb/E7F350" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 995, "chemical_mass": 110941.0, "gene_names": "dis3l2;dis3l2", "protein_name": "DIS3-like exonuclease 2", "disease": [ { 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "E7F3S4", "url": "https://www.uniprot.org/uniprotkb/E7F3S4" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "E7F3S4", "url": "https://www.uniprot.org/uniprotkb/E7F3S4" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "E7F3S4", "url": "https://www.uniprot.org/uniprotkb/E7F3S4" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay", "id": "GO:1900153", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900153", "evidence": [ { "database": "UniProtKB", "id": "E7F3S4", "url": "https://www.uniprot.org/uniprotkb/E7F3S4" } ], "pmid": "" }, { "name": "nuclear-transcribed mRNA poly(A) tail shortening", "id": "GO:0000289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000289", "evidence": [ { "database": "UniProtKB", "id": "E7F3S4", "url": "https://www.uniprot.org/uniprotkb/E7F3S4" } ], "pmid": "" }, { "name": "3'-UTR-mediated mRNA destabilization", "id": "GO:0061158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061158", "evidence": [ { "database": "UniProtKB", "id": "E7F3S4", "url": "https://www.uniprot.org/uniprotkb/E7F3S4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "E7F3U8-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "E7F3U8", "url": "https://www.uniprot.org/uniprotkb/E7F3U8" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 513, "chemical_mass": 56085.0, "gene_names": "chrm4a;chrm4a", "protein_name": 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"evidence": [ { "database": "UniProtKB", "id": "E7F3U8", "url": "https://www.uniprot.org/uniprotkb/E7F3U8" } ], "pmid": "" } ], "molecular_function": [ { "name": "G protein-coupled acetylcholine receptor activity", "id": "GO:0016907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016907", "evidence": [ { "database": "UniProtKB", "id": "E7F3U8", "url": "https://www.uniprot.org/uniprotkb/E7F3U8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "E7F3V2-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "E7F3V2", "url": "https://www.uniprot.org/uniprotkb/E7F3V2" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 4212, "chemical_mass": 455003.0, "gene_names": "hmcn2;hmcn2", "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": "E7F3V2", "url": "https://www.uniprot.org/uniprotkb/E7F3V2" } ], "pmid": "" } ], "biological_process": [ { "name": "extracellular matrix organization", "id": "GO:0030198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", "evidence": [ { "database": "UniProtKB", "id": "E7F3V2", "url": "https://www.uniprot.org/uniprotkb/E7F3V2" } ], "pmid": "" }, { "name": "epithelial cell differentiation", "id": "GO:0030855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030855", "evidence": [ { "database": "UniProtKB", "id": "E7F3V2", "url": "https://www.uniprot.org/uniprotkb/E7F3V2" } ], "pmid": "" }, { "name": "skin morphogenesis", "id": "GO:0043589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043589", "evidence": [ { "database": "UniProtKB", "id": "E7F3V2", "url": "https://www.uniprot.org/uniprotkb/E7F3V2" } ], "pmid": "" }, { "name": "mesenchymal cell migration", "id": "GO:0090497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090497", "evidence": [ { "database": "UniProtKB", "id": "E7F3V2", "url": "https://www.uniprot.org/uniprotkb/E7F3V2" } ], "pmid": "" }, { "name": "embryonic medial fin morphogenesis", "id": "GO:0035122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035122", "evidence": [ { "database": "UniProtKB", "id": "E7F3V2", "url": "https://www.uniprot.org/uniprotkb/E7F3V2" } ], "pmid": "" } ], "molecular_function": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "E7F3V2", "url": "https://www.uniprot.org/uniprotkb/E7F3V2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "E7F3X9-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "E7F3X9", "url": "https://www.uniprot.org/uniprotkb/E7F3X9" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 974, "chemical_mass": 108010.0, "gene_names": "ddr1;ddr1", "protein_name": "receptor protein-tyrosine kinase", "disease": [ { "disease_id": "DOID:0050156", "name": "idiopathic pulmonary fibrosis", "description": "A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe.", "url": "https://disease-ontology.org/term/DOID:0050156", "evidence": [ { "id": "0050156", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050156" } ], "weight": 0.0 }, { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID: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:14018", "name": "alcoholic liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:14018", "evidence": [ { "id": "14018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14018" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the 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"name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "E7F3X9", "url": "https://www.uniprot.org/uniprotkb/E7F3X9" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "E7F3X9", "url": "https://www.uniprot.org/uniprotkb/E7F3X9" } ], "pmid": "" } ], "biological_process": [ { "name": "cell surface receptor protein tyrosine kinase signaling pathway", "id": "GO:0007169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007169", "evidence": [ { "database": "UniProtKB", "id": "E7F3X9", "url": "https://www.uniprot.org/uniprotkb/E7F3X9" } ], "pmid": "" }, { "name": "positive regulation of neuron projection development", "id": "GO:0010976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010976", "evidence": [ { "database": "UniProtKB", "id": "E7F3X9", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0015467", "evidence": [ { "database": "UniProtKB", "id": "E7F7K0", "url": "https://www.uniprot.org/uniprotkb/E7F7K0" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "E7F7K0", "url": "https://www.uniprot.org/uniprotkb/E7F7K0" } ], "pmid": "" }, { "name": "monoatomic ion channel complex", "id": "GO:0034702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034702", "evidence": [ { "database": "UniProtKB", "id": "E7F7K0", "url": "https://www.uniprot.org/uniprotkb/E7F7K0" } ], "pmid": "" } ], "biological_process": [ { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "E7F7K0", "url": "https://www.uniprot.org/uniprotkb/E7F7K0" } ], "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": "E7F7K0", "url": "https://www.uniprot.org/uniprotkb/E7F7K0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "E7F829-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "E7F829", "url": "https://www.uniprot.org/uniprotkb/E7F829" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 1022, "chemical_mass": 116324.0, "gene_names": "aebp1a;aebp1a;aebp1;fc06f06;si:dkey-24n17.4;wu:fc06f06", "protein_name": "Adipocyte enhancer-binding protein 1", "disease": [ { "disease_id": "DOID:0080732", "name": "Ehlers-Danlos syndrome classic-like 2", "description": "An Ehlers-Danlos syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the AEBP1 gene on chromosome 7p13 and that is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations.", "url": "https://disease-ontology.org/term/DOID:0080732", "evidence": [ { "id": "0080732", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080732" } ], "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": "E7F829", "url": "https://www.uniprot.org/uniprotkb/E7F829" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "E7F829", "url": "https://www.uniprot.org/uniprotkb/E7F829" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulatory region sequence-specific DNA binding", "id": "GO:0000977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000977", "evidence": [ { "database": "UniProtKB", "id": "E7F829", "url": "https://www.uniprot.org/uniprotkb/E7F829" } ], "pmid": "" }, { "name": "DNA-binding transcription repressor activity, RNA polymerase II-specific", "id": "GO:0001227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001227", "evidence": [ { "database": "UniProtKB", "id": "E7F829", "url": "https://www.uniprot.org/uniprotkb/E7F829" } ], "pmid": "" }, { "name": "metallocarboxypeptidase activity", "id": "GO:0004181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004181", "evidence": [ { "database": "UniProtKB", "id": "E7F829", "url": "https://www.uniprot.org/uniprotkb/E7F829" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "E7F829", "url": "https://www.uniprot.org/uniprotkb/E7F829" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "E7F829", "url": "https://www.uniprot.org/uniprotkb/E7F829" } ], "pmid": "" }, { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "E7F829", "url": "https://www.uniprot.org/uniprotkb/E7F829" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "E7F829", "url": "https://www.uniprot.org/uniprotkb/E7F829" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "E7F8D4-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "E7F8D4", "url": "https://www.uniprot.org/uniprotkb/E7F8D4" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 413, "chemical_mass": 44462.0, "gene_names": "nradd;nradd", "protein_name": "", "disease": [], "molecular_function": [ { "name": "nerve growth factor binding", "id": "GO:0048406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048406", "evidence": [ { "database": "UniProtKB", "id": "E7F8D4", "url": "https://www.uniprot.org/uniprotkb/E7F8D4" } ], "pmid": "" }, { "name": "coreceptor activity", "id": "GO:0015026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015026", "evidence": [ { "database": "UniProtKB", "id": "E7F8D4", "url": "https://www.uniprot.org/uniprotkb/E7F8D4" } ], "pmid": "" }, { "name": "death receptor activity", "id": "GO:0005035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005035", "evidence": [ { "database": "UniProtKB", "id": "E7F8D4", "url": "https://www.uniprot.org/uniprotkb/E7F8D4" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "E7F8D4", "url": "https://www.uniprot.org/uniprotkb/E7F8D4" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "E7F8D4", "url": "https://www.uniprot.org/uniprotkb/E7F8D4" } ], "pmid": "" } ], "biological_process": [ { "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": "E7F8D4", "url": "https://www.uniprot.org/uniprotkb/E7F8D4" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "E7F8D4", "url": "https://www.uniprot.org/uniprotkb/E7F8D4" } ], "pmid": "" }, { "name": "Rho protein signal transduction", "id": "GO:0007266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007266", "evidence": [ { "database": "UniProtKB", "id": "E7F8D4", "url": "https://www.uniprot.org/uniprotkb/E7F8D4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "E7F8E5-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "E7F8E5", "url": "https://www.uniprot.org/uniprotkb/E7F8E5" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 153, "chemical_mass": 17274.0, "gene_names": "ltc4s;ltc4s", "protein_name": "Leukotriene C4 synthase", "disease": [ { "disease_id": "DOID:0040002", "name": "aspirin allergy", "description": "A drug allergy that has_allergic_trigger acetylsalicylic acid.", "url": "https://disease-ontology.org/term/DOID:0040002", "evidence": [ { "id": "0040002", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0040002" } ], "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: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:0080821", "name": "exercise-induced bronchoconstriction", "description": "An intrinsic asthma that is characterized by narrowing of the airways during or shortly after exercise.", "url": "https://disease-ontology.org/term/DOID:0080821", "evidence": [ { "id": "0080821", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080821" } ], "weight": 0.0 }, { "disease_id": "DOID:0080822", "name": "aspirin-induced respiratory disease", "description": "An intrinsic asthma that is characterized by severe and prolonged airway obstruction after the ingestion of aspirin or other non-steroidal anti-inflammatory drugs.", "url": "https://disease-ontology.org/term/DOID:0080822", "evidence": [ { "id": "0080822", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080822" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1555", "name": "urticaria", "description": "A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis.", "url": "https://disease-ontology.org/term/DOID:1555", "evidence": [ { "id": "1555", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1555" } ], "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: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: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: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: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 } ], "molecular_function": [ { "name": "glutathione transferase activity", "id": "GO:0004364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004364", "evidence": [ { "database": "UniProtKB", "id": "E7F8E5", "url": "https://www.uniprot.org/uniprotkb/E7F8E5" } ], "pmid": "" }, { "name": "leukotriene-C4 synthase activity", "id": "GO:0004464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004464", "evidence": [ { "database": "UniProtKB", "id": "E7F8E5", "url": "https://www.uniprot.org/uniprotkb/E7F8E5" } ], "pmid": "" }, { "name": "enzyme activator activity", "id": "GO:0008047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008047", "evidence": [ { "database": "UniProtKB", "id": "E7F8E5", "url": "https://www.uniprot.org/uniprotkb/E7F8E5" } ], "pmid": "" }, { "name": "glutathione peroxidase activity", "id": "GO:0004602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004602", "evidence": [ { "database": "UniProtKB", "id": "E7F8E5", "url": "https://www.uniprot.org/uniprotkb/E7F8E5" } ], "pmid": "" } ], "cellular_component": [ { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "E7F8E5", "url": "https://www.uniprot.org/uniprotkb/E7F8E5" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "E7F8E5", "url": "https://www.uniprot.org/uniprotkb/E7F8E5" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "E7F8E5", "url": "https://www.uniprot.org/uniprotkb/E7F8E5" } ], "pmid": "" }, { "name": "nuclear outer membrane", "id": "GO:0005640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005640", "evidence": [ { "database": "UniProtKB", "id": "E7F8E5", "url": "https://www.uniprot.org/uniprotkb/E7F8E5" } ], "pmid": "" } ], "biological_process": [ { "name": "leukotriene biosynthetic process", "id": "GO:0019370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019370", "evidence": [ { "database": "UniProtKB", "id": "E7F8E5", "url": "https://www.uniprot.org/uniprotkb/E7F8E5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "E7F8G5-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "E7F8G5", "url": "https://www.uniprot.org/uniprotkb/E7F8G5" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 1536, "chemical_mass": 173556.0, "gene_names": "arhgap35a;arhgap35a", "protein_name": "Rho GTPase-activating protein 35", "disease": [], "biological_process": [ { "name": "regulation of axonogenesis", "id": "GO:0050770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050770", "evidence": [ { "database": "UniProtKB", "id": "E7F8G5", "url": "https://www.uniprot.org/uniprotkb/E7F8G5" } ], "pmid": "" }, { "name": "Rho protein signal transduction", "id": "GO:0007266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007266", "evidence": [ { "database": "UniProtKB", "id": "E7F8G5", "url": "https://www.uniprot.org/uniprotkb/E7F8G5" } ], "pmid": "" }, { "name": "regulation of cell size", "id": "GO:0008361", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008361", "evidence": [ { "database": "UniProtKB", "id": "E7F8G5", "url": "https://www.uniprot.org/uniprotkb/E7F8G5" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": 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"evidence": [ { "database": "UniProtKB", "id": "E7F8G5", "url": "https://www.uniprot.org/uniprotkb/E7F8G5" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "E7F8G5", "url": "https://www.uniprot.org/uniprotkb/E7F8G5" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "E7F8G5", "url": "https://www.uniprot.org/uniprotkb/E7F8G5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "E7F8G5-1", "start_pos": "1512", "end_pos": "1512", "site_lbl": "Thr1512", "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 }, 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"species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "E7F8M2", "url": "https://www.uniprot.org/uniprotkb/E7F8M2" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 493, "chemical_mass": 56058.0, "gene_names": "kcna2a;LOC100537815", "protein_name": "Potassium voltage-gated channel subfamily A member 2", "disease": [], "molecular_function": [ { "name": "delayed rectifier potassium channel activity", "id": "GO:0005251", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005251", "evidence": [ { "database": "UniProtKB", "id": "E7F8M2", "url": "https://www.uniprot.org/uniprotkb/E7F8M2" } ], "pmid": "" } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "E7F8M2", "url": "https://www.uniprot.org/uniprotkb/E7F8M2" } ], "pmid": "" }, { "name": "dendrite", "id": 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"uniprot_canonical_ac": "E7F8R4-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "E7F8R4", "url": "https://www.uniprot.org/uniprotkb/E7F8R4" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 341, "chemical_mass": 37241.0, "gene_names": "arg1;SI:zC146F4.4;arg1;si:ch211-146f4.3;zC146F4.3", "protein_name": "Arginase", "disease": [ { "disease_id": "DOID:0060180", "name": "colitis", "description": "An inflammatory bowel disease that involves inflammation located_in colon.", "url": "https://disease-ontology.org/term/DOID:0060180", "evidence": [ { "id": "0060180", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060180" } ], "weight": 0.0 }, { "disease_id": "DOID: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 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"url": "https://www.uniprot.org/uniprotkb/E7F9X7" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "E7F9X7", "url": "https://www.uniprot.org/uniprotkb/E7F9X7" } ], "pmid": "" } ], "biological_process": [ { "name": "ceramide biosynthetic process", "id": "GO:0046513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046513", "evidence": [ { "database": "UniProtKB", "id": "E7F9X7", "url": "https://www.uniprot.org/uniprotkb/E7F9X7" } ], "pmid": "" }, { "name": "cellular response to ceramide", "id": "GO:0106097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106097", "evidence": [ { "database": "UniProtKB", "id": "E7F9X7", "url": "https://www.uniprot.org/uniprotkb/E7F9X7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "E7F9Y7-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "E7F9Y7", "url": "https://www.uniprot.org/uniprotkb/E7F9Y7" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 289, "chemical_mass": 31940.0, "gene_names": "abhd10b;abhd10b;im:7144007", "protein_name": "Palmitoyl-protein thioesterase ABHD10, mitochondrial", "disease": [], "molecular_function": [ { "name": "hydrolase activity, hydrolyzing O-glycosyl compounds", "id": "GO:0004553", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004553", "evidence": [ { "database": "UniProtKB", "id": "E7F9Y7", "url": "https://www.uniprot.org/uniprotkb/E7F9Y7" } ], "pmid": "" }, { "name": "mycophenolic acid acyl-glucuronide esterase activity", "id": "GO:0102390", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0102390", "evidence": [ { "database": "UniProtKB", "id": "E7F9Y7", "url": "https://www.uniprot.org/uniprotkb/E7F9Y7" } ], "pmid": "" }, { "name": "palmitoyl-(protein) hydrolase activity", "id": "GO:0008474", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008474", "evidence": [ { "database": "UniProtKB", "id": "E7F9Y7", "url": "https://www.uniprot.org/uniprotkb/E7F9Y7" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "E7F9Y7", "url": "https://www.uniprot.org/uniprotkb/E7F9Y7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "E7FA20-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "E7FA20", "url": "https://www.uniprot.org/uniprotkb/E7FA20" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 1574, "chemical_mass": 173872.0, "gene_names": "si:ch211-256m1.8;si:ch211-256m1.8", "protein_name": "Isoaspartyl peptidase/L-asparaginase", "disease": [], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "E7FA20", "url": "https://www.uniprot.org/uniprotkb/E7FA20" } ], "pmid": "" }, { "name": "asparaginase activity", "id": "GO:0004067", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004067", "evidence": [ { "database": "UniProtKB", "id": "E7FA20", "url": "https://www.uniprot.org/uniprotkb/E7FA20" } ], "pmid": "" }, { "name": "beta-aspartyl-peptidase activity", "id": "GO:0008798", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008798", "evidence": [ { "database": "UniProtKB", "id": "E7FA20", "url": "https://www.uniprot.org/uniprotkb/E7FA20" } ], "pmid": "" }, { "name": "aminoacyl-tRNA ligase activity", "id": "GO:0004812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004812", "evidence": [ { "database": "UniProtKB", "id": "E7FA20", "url": "https://www.uniprot.org/uniprotkb/E7FA20" } ], "pmid": "" }, { "name": "carnitine O-acyltransferase activity", "id": "GO:0016406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016406", "evidence": [ { "database": "UniProtKB", "id": "E7FA20", "url": "https://www.uniprot.org/uniprotkb/E7FA20" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "E7FA20", "url": "https://www.uniprot.org/uniprotkb/E7FA20" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "E7FA20", "url": "https://www.uniprot.org/uniprotkb/E7FA20" } ], "pmid": "" }, { "name": "fatty acid beta-oxidation", "id": "GO:0006635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006635", "evidence": [ { "database": "UniProtKB", "id": "E7FA20", "url": "https://www.uniprot.org/uniprotkb/E7FA20" } ], "pmid": "" }, { "name": "tRNA aminoacylation for protein translation", "id": "GO:0006418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006418", "evidence": [ { "database": "UniProtKB", "id": "E7FA20", "url": "https://www.uniprot.org/uniprotkb/E7FA20" } ], "pmid": "" }, { "name": "L-asparagine catabolic process via L-aspartate", "id": "GO:0033345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033345", "evidence": [ { "database": "UniProtKB", "id": "E7FA20", "url": "https://www.uniprot.org/uniprotkb/E7FA20" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "E7FA21-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "E7FA21", "url": "https://www.uniprot.org/uniprotkb/E7FA21" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 853, "chemical_mass": 95427.0, "gene_names": "smcr8a;smcr8a", "protein_name": "Guanine nucleotide exchange protein smcr8a", "disease": [], "molecular_function": [ { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "E7FA21", "url": "https://www.uniprot.org/uniprotkb/E7FA21" } ], "pmid": "" }, { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "E7FA21", "url": "https://www.uniprot.org/uniprotkb/E7FA21" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "E7FA21", "url": "https://www.uniprot.org/uniprotkb/E7FA21" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "E7FA21", "url": "https://www.uniprot.org/uniprotkb/E7FA21" } ], "pmid": "" }, { "name": "guanyl-nucleotide exchange factor complex", "id": "GO:0032045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032045", "evidence": [ { "database": "UniProtKB", "id": "E7FA21", "url": "https://www.uniprot.org/uniprotkb/E7FA21" } ], "pmid": "" } ], "biological_process": [ { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "E7FA21", "url": "https://www.uniprot.org/uniprotkb/E7FA21" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "E7FAN5-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "E7FAN5", "url": "https://www.uniprot.org/uniprotkb/E7FAN5" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 635, "chemical_mass": 71820.0, "gene_names": "f2;wu:fb57c10;wu:fd42e09;wu:fd59d01;zgc:66319", "protein_name": "Prothrombin", "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:0051064", "name": "left ventricular failure", "description": "A congestive heart failure that is characterized by dysfunction of the left ventricle, resulting insufficient delivery of blood to vital organs.", "url": "https://disease-ontology.org/term/DOID:0051064", "evidence": [ { "id": "0051064", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051064" } ], "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: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:0080941", "name": "acquired angioedema", "description": "An angioedema that is characterized by an acquired deficiency of (C1-INH) caused by either consumption or inactivation.", "url": "https://disease-ontology.org/term/DOID:0080941", "evidence": [ { "id": "0080941", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080941" } ], "weight": 0.0 }, { "disease_id": "DOID:0111907", "name": "thrombophilia due to thrombin defect", "description": "A thrombophilia characterized by recurrent thrombophilia that has_material_basis_in heterozygous mutation in F2 on chromosome 11p11.2.", "url": "https://disease-ontology.org/term/DOID:0111907", "evidence": [ { "id": "0111907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111907" } ], "weight": 0.0 }, { "disease_id": "DOID:10003", "name": "sensorineural hearing loss", "description": "An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem.", "url": "https://disease-ontology.org/term/DOID:10003", "evidence": [ { "id": "10003", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10003" } ], "weight": 0.0 }, { "disease_id": "DOID: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:10608", "name": "celiac disease", "description": "An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.", "url": "https://disease-ontology.org/term/DOID:10608", "evidence": [ { "id": "10608", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10608" } ], "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: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:11695", "name": "portal vein thrombosis", "description": "A hepatic vascular disease that is characterized by a blood clot that forms within the hepatic portal vein.", "url": "https://disease-ontology.org/term/DOID:11695", "evidence": [ { "id": "11695", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11695" } ], "weight": 0.0 }, { "disease_id": "DOID:12134", "name": "factor VIII deficiency", "description": "A hemophilia that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged.", "url": "https://disease-ontology.org/term/DOID:12134", "evidence": [ { "id": "12134", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12134" } ], "weight": 0.0 }, { "disease_id": "DOID:12140", "name": "Chagas disease", "description": "A trypanosomiasis that is a tropical parasitic disease caused by the flagellate protozoan Trypanosoma cruzi, which is transmitted to humans and other mammals by an insect vector, the blood-sucking assassin bugs of the subfamily Triatominae (family Reduviidae), most commonly species belonging to the Triatoma, Rhodnius, and Panstrongylus genera. The symptoms include fever, fatigue, body aches, headache, rash, loss of appetite, diarrhea, vomiting, swelling of the eyelids and myocarditis.", "url": "https://disease-ontology.org/term/DOID:12140", "evidence": [ { "id": "12140", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12140" } ], "weight": 0.0 }, { "disease_id": "DOID:12205", "name": "dengue disease", "description": "A viral infectious disease that results in infection, has_material_basis_in Dengue virus (Orthoflavivirus denguei), which are transmitted by Aedes mosquito bite. The infection has symptom fever, has symptom severe headache, has symptom severe pain behind the eyes, has symptom joint pain, has symptom muscle and bone pain, has symptom rash, and has symptom mild bleeding.", "url": "https://disease-ontology.org/term/DOID:12205", "evidence": [ { "id": "12205", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12205" } ], "weight": 0.0 }, { "disease_id": "DOID:12259", "name": "hemophilia B", "description": "A hemophilia that has_material_basis_in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait.", "url": "https://disease-ontology.org/term/DOID:12259", "evidence": [ { "id": "12259", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12259" } ], "weight": 0.0 }, { "disease_id": "DOID:12554", "name": "hemolytic-uremic syndrome", "description": "A kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs.", "url": "https://disease-ontology.org/term/DOID:12554", "evidence": [ { "id": "12554", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12554" } ], "weight": 0.0 }, { "disease_id": "DOID:12858", "name": "Huntington's disease", "description": "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.", "url": "https://disease-ontology.org/term/DOID:12858", "evidence": [ { "id": "12858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12858" } ], "weight": 0.0 }, { "disease_id": "DOID:13001", "name": "carotid stenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:13001", "evidence": [ { "id": "13001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13001" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:1555", "name": "urticaria", "description": "A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis.", "url": "https://disease-ontology.org/term/DOID:1555", "evidence": [ { "id": "1555", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1555" } ], "weight": 0.0 }, { "disease_id": "DOID:1727", "name": "retinal vein occlusion", "description": "", "url": "https://disease-ontology.org/term/DOID:1727", "evidence": [ { "id": "1727", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1727" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2048", "name": "autoimmune hepatitis", "description": "An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells.", "url": "https://disease-ontology.org/term/DOID:2048", "evidence": [ { "id": "2048", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2048" } ], "weight": 0.0 }, { "disease_id": "DOID:2235", "name": "prothrombin deficiency", "description": "A thrombophilia that is characterized by bleeding symptoms due to low levels of circulating prothrombin, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding coagulation factor II, also known as prothrombin, on chromosome 11p11.", "url": "https://disease-ontology.org/term/DOID:2235", "evidence": [ { "id": "2235", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2235" } ], "weight": 0.0 }, { "disease_id": "DOID:2297", "name": "leptospirosis", "description": "A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted by contact with water, food, or soil containing urine from the infected animals. The infection has symptom jaundice, has symptom chills, has symptom fever, has symptom muscle pain, and has symptom hepatomegaly.", "url": "https://disease-ontology.org/term/DOID:2297", "evidence": [ { "id": "2297", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2297" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney.", "url": "https://disease-ontology.org/term/DOID:2921", "evidence": [ { "id": "2921", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ], "weight": 0.0 }, { "disease_id": "DOID:2987", "name": "familial Mediterranean fever", "description": "An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.", "url": "https://disease-ontology.org/term/DOID:2987", "evidence": [ { "id": "2987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2987" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:4195", "name": "hyperglycemia", "description": "", "url": "https://disease-ontology.org/term/DOID:4195", "evidence": [ { "id": "4195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4195" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:5614", "name": "eye disease", "description": "An eye and adnexa disease that is located_in the eye.", "url": "https://disease-ontology.org/term/DOID:5614", "evidence": [ { "id": "5614", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5614" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:8337", "name": "appendicitis", "description": "An appendix disease that involves inflammation and infection of the appendix caused by the blockage of the lumen with a small, hard piece of stool, a foreign body or worms. Mucus backs up in the appendiceal lumen, causing bacteria that live inside the appendix to multiply. The infection has_symptom pain, in the upper abdomen initially and later in the lower abdomen, has_symptom nausea, has_symptom vomiting and has_symptom fever.", "url": "https://disease-ontology.org/term/DOID:8337", "evidence": [ { "id": "8337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8337" } ], "weight": 0.0 }, { "disease_id": "DOID:8506", "name": "bullous pemphigoid", "description": "A pemphigoid that is characterized by large blisters.", "url": "https://disease-ontology.org/term/DOID:8506", "evidence": [ { "id": "8506", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8506" } ], "weight": 0.0 }, { "disease_id": "DOID:8536", "name": "herpes zoster", "description": "A viral infectious disease that results_in infection located_in nerve fiber, has_material_basis_in Human herpesvirus 3 (Varicellovirus humanalpha3), which reactivates after appearing as chickenpox in childhood. The virus is transmitted_by direct contact with the rash, which can develop into chickenpox in newly-infected individuals. The infection has_symptom rash which is followed by blisters, has_symptom headache, has_symptom fever, has_symptom malaise, has_symptom itching, has_symptom burning pain, and has_symptom paresthesia.", "url": "https://disease-ontology.org/term/DOID:8536", "evidence": [ { "id": "8536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8536" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:9477", "name": "pulmonary embolism", "description": "An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot.", "url": "https://disease-ontology.org/term/DOID:9477", "evidence": [ { "id": "9477", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9477" } ], "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 } ], "molecular_function": [ { "name": "serine-type endopeptidase activity", "id": "GO:0004252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004252", "evidence": [ { "database": "UniProtKB", "id": "E7FAN5", "url": "https://www.uniprot.org/uniprotkb/E7FAN5" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "E7FAN5", "url": "https://www.uniprot.org/uniprotkb/E7FAN5" } ], "pmid": "" }, { "name": "serine-type peptidase activity", "id": "GO:0008236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008236", "evidence": [ { "database": "UniProtKB", "id": "E7FAN5", "url": "https://www.uniprot.org/uniprotkb/E7FAN5" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "E7FAN5", "url": "https://www.uniprot.org/uniprotkb/E7FAN5" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "E7FAN5", "url": "https://www.uniprot.org/uniprotkb/E7FAN5" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "E7FAN5", "url": "https://www.uniprot.org/uniprotkb/E7FAN5" } ], "pmid": "" }, { "name": "acute-phase response", "id": "GO:0006953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006953", "evidence": [ { "database": "UniProtKB", "id": "E7FAN5", "url": "https://www.uniprot.org/uniprotkb/E7FAN5" } ], "pmid": "" }, { "name": "blood coagulation", "id": "GO:0007596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007596", "evidence": [ { "database": "UniProtKB", "id": "E7FAN5", "url": "https://www.uniprot.org/uniprotkb/E7FAN5" } ], "pmid": "" }, { "name": "platelet activation", "id": "GO:0030168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030168", "evidence": [ { "database": "UniProtKB", "id": "E7FAN5", "url": "https://www.uniprot.org/uniprotkb/E7FAN5" } ], "pmid": "" }, { "name": "positive regulation of blood coagulation", "id": "GO:0030194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030194", "evidence": [ { "database": "UniProtKB", "id": "E7FAN5", "url": "https://www.uniprot.org/uniprotkb/E7FAN5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "E7FAS0-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "E7FAS0", "url": "https://www.uniprot.org/uniprotkb/E7FAS0" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 777, "chemical_mass": 88434.0, "gene_names": "pde4a;pde4a", "protein_name": "Phosphodiesterase", "disease": [], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "E7FAS0", "url": "https://www.uniprot.org/uniprotkb/E7FAS0" } ], "pmid": "" }, { "name": "cAMP catabolic process", "id": "GO:0006198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006198", "evidence": [ { "database": "UniProtKB", "id": "E7FAS0", "url": "https://www.uniprot.org/uniprotkb/E7FAS0" } ], "pmid": "" }, { "name": "negative regulation of cAMP/PKA signal transduction", "id": "GO:0141162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141162", "evidence": [ { "database": "UniProtKB", "id": "E7FAS0", "url": "https://www.uniprot.org/uniprotkb/E7FAS0" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "E7FAS0", "url": "https://www.uniprot.org/uniprotkb/E7FAS0" } ], "pmid": "" }, { "name": "3',5'-cyclic-GMP phosphodiesterase activity", "id": "GO:0047555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047555", "evidence": [ { "database": "UniProtKB", "id": "E7FAS0", "url": "https://www.uniprot.org/uniprotkb/E7FAS0" } ], "pmid": "" }, { "name": "3',5'-cyclic-AMP phosphodiesterase activity", "id": "GO:0004115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004115", "evidence": [ { "database": "UniProtKB", "id": "E7FAS0", "url": "https://www.uniprot.org/uniprotkb/E7FAS0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "E7FAU2-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "E7FAU2", "url": "https://www.uniprot.org/uniprotkb/E7FAU2" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 225, "chemical_mass": 25562.0, "gene_names": "prtfdc1a;prtfdc1a", "protein_name": "Hypoxanthine phosphoribosyltransferase", "disease": [], "molecular_function": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "E7FAU2", "url": "https://www.uniprot.org/uniprotkb/E7FAU2" } ], "pmid": "" }, { "name": "nucleotide binding", "id": "GO:0000166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000166", "evidence": [ { "database": "UniProtKB", "id": "E7FAU2", "url": "https://www.uniprot.org/uniprotkb/E7FAU2" } ], "pmid": "" }, { "name": "hypoxanthine phosphoribosyltransferase activity", "id": "GO:0004422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004422", "evidence": [ { "database": "UniProtKB", "id": "E7FAU2", "url": "https://www.uniprot.org/uniprotkb/E7FAU2" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "E7FAU2", "url": "https://www.uniprot.org/uniprotkb/E7FAU2" } ], "pmid": "" } ], "biological_process": [ { "name": "IMP salvage", "id": "GO:0032264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032264", "evidence": [ { "database": "UniProtKB", "id": "E7FAU2", "url": "https://www.uniprot.org/uniprotkb/E7FAU2" } ], "pmid": "" }, { "name": "purine ribonucleoside salvage", "id": "GO:0006166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006166", "evidence": [ { "database": "UniProtKB", "id": "E7FAU2", "url": "https://www.uniprot.org/uniprotkb/E7FAU2" } ], "pmid": "" }, { "name": "guanine salvage", "id": "GO:0006178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006178", "evidence": [ { "database": "UniProtKB", "id": "E7FAU2", "url": "https://www.uniprot.org/uniprotkb/E7FAU2" } ], "pmid": "" }, { "name": "hypoxanthine metabolic process", "id": "GO:0046100", "url": 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"species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "E7FBZ4", "url": "https://www.uniprot.org/uniprotkb/E7FBZ4" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 354, "chemical_mass": 40787.0, "gene_names": "gja1a;gja1a", "protein_name": "Gap junction 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 }, { 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association with a severe and early-onset form of dysfunctional urinary voiding.", "url": "https://disease-ontology.org/term/DOID:0050816", "evidence": [ { "id": "0050816", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050816" } ], "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": "A0A8M3B5H5", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B5H5" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B5H5", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B5H5" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B5H5", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B5H5" 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[7955]" } ], "length": 1768, "chemical_mass": 197735.0, "gene_names": "c3b.1;c3b.1;si:dkey-21e7.2;wu:fb99g02", "protein_name": "", "disease": [ { "disease_id": "DOID:0060284", "name": "paroxysmal nocturnal hemoglobinuria", "description": "An acquired hemolytic anemia that is characterized by abdominal pain, hematuria, esophageal dysmotility and thrombosis, has_material_basis_in defect in the cell membrane glycosyl phosphatidylinositols that protect red blood cells from the innate complement immune system.", "url": "https://disease-ontology.org/term/DOID:0060284", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ], "weight": 0.0 }, { "disease_id": "DOID:0080162", "name": "lupus nephritis", "description": "A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus.", "url": "https://disease-ontology.org/term/DOID:0080162", "evidence": [ { "id": "0080162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080162" } ], "weight": 0.0 }, { "disease_id": "DOID:0080301", "name": "atypical hemolytic-uremic syndrome", "description": "A complement deficiency that is characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction.", "url": "https://disease-ontology.org/term/DOID:0080301", "evidence": [ { "id": "0080301", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080301" } ], "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:0080750", "name": "erythema nodosum", "description": "A panniculitis that is characterized by sudden onset of painful, erythematous, subcutaneous nodules mainly localized to the pretibial areas. Lesions are usually bilateral and symmetrical, ranging from 1 to 5 cm in diameter.", "url": "https://disease-ontology.org/term/DOID:0080750", "evidence": [ { "id": "0080750", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080750" } ], "weight": 0.0 }, { "disease_id": "DOID:0110019", "name": "age related macular degeneration 7", "description": "An age related macular degeneration conferred by variation in the HTRA1 gene on chromosome 10q26.", "url": "https://disease-ontology.org/term/DOID:0110019", "evidence": [ { "id": "0110019", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110019" } ], "weight": 0.0 }, { "disease_id": "DOID:0110021", "name": "age related macular degeneration 9", "description": "An age related macular degeneration conferred by variation in the C3 gene on chromosome 19p13.", "url": "https://disease-ontology.org/term/DOID:0110021", "evidence": [ { "id": "0110021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110021" } ], "weight": 0.0 }, { "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:10140", "name": "dry eye syndrome", "description": "A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface.", "url": "https://disease-ontology.org/term/DOID:10140", "evidence": [ { "id": "10140", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10140" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:10887", "name": "lepromatous leprosy", "description": "A leprosy that results in early cutaneous lesions which consist of pale macules that are small, diffuse, and symmetric. This form of leprosy is characterized by hypoesthesia over extensor surfaces of the distal extremities, alopecia affecting lateral aspects of the eyebrows, saddle-nose deformity and oral lepromas.", "url": "https://disease-ontology.org/term/DOID:10887", "evidence": [ { "id": "10887", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10887" } ], "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: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:11555", "name": "Fuchs' endothelial dystrophy", "description": "A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision.", "url": "https://disease-ontology.org/term/DOID:11555", "evidence": [ { "id": "11555", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11555" } ], "weight": 0.0 }, { "disease_id": "DOID:12134", "name": "factor VIII deficiency", "description": "A hemophilia that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged.", "url": "https://disease-ontology.org/term/DOID:12134", "evidence": [ { "id": "12134", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12134" } ], "weight": 0.0 }, { "disease_id": "DOID:13406", "name": "pulmonary sarcoidosis", "description": "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.", "url": "https://disease-ontology.org/term/DOID:13406", "evidence": [ { "id": "13406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13406" } ], "weight": 0.0 }, { "disease_id": "DOID:14018", "name": "alcoholic liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:14018", "evidence": [ { "id": "14018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14018" } ], "weight": 0.0 }, { "disease_id": "DOID:1407", "name": "anterior uveitis", "description": "", "url": "https://disease-ontology.org/term/DOID:1407", "evidence": [ { "id": "1407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1407" } ], "weight": 0.0 }, { "disease_id": "DOID:14095", "name": "boutonneuse fever", "description": "A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities.", "url": "https://disease-ontology.org/term/DOID:14095", "evidence": [ { "id": "14095", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14095" } ], "weight": 0.0 }, { "disease_id": "DOID:2559", "name": "opiate dependence", "description": "A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2559", "evidence": [ { "id": "2559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2559" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:321", "name": "HTLV-1-associated myelopathy/tropical spastic paraparesis", "description": "A viral infectious disease that results in inflammation located in spinal cord, has_material_basis_in human T-cell leukemia virus type 1 (Deltaretrovirus priTlym1), which is transmitted by sexual contact, and transmitted by breast feeding. The infection has symptom spastic weakness of both legs, has symptom muscle stiffness, has symptom sensory disturbance, and has symptom spasms.", "url": "https://disease-ontology.org/term/DOID:321", "evidence": [ { "id": "321", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:321" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3324", "name": "mood disorder", "description": "A cognitive disorder that involves a disturbance in mood as the predominant underlying feature.", "url": "https://disease-ontology.org/term/DOID:3324", "evidence": [ { "id": "3324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3324" } ], "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:4483", "name": "rhinitis", "description": "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.", "url": "https://disease-ontology.org/term/DOID:4483", "evidence": [ { "id": "4483", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4483" } ], "weight": 0.0 }, { "disease_id": "DOID:5162", "name": "arteriolosclerosis", "description": "An arteriosclerosis that is characterized by thickening of the wall of the small arteries and arterioles, caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy, and results in lumen narrowing and tissue ischemia.", "url": "https://disease-ontology.org/term/DOID:5162", "evidence": [ { "id": "5162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5162" } ], "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: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 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:8354", "name": "complement component 3 deficiency", "description": "A complement deficiency that is characterized by deficiency of complement component 3 that increases susceptibility to infection and autoimmune diseases and has_material_basis_in autosomal recessive inheritance of mutation in the C3 gene on chromosome 19p13.3, has_symptom recurrent bacterial infections.", "url": "https://disease-ontology.org/term/DOID:8354", "evidence": [ { "id": "8354", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8354" } ], "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:9282", "name": "ocular hypertension", "description": "An eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss.", "url": "https://disease-ontology.org/term/DOID:9282", "evidence": [ { "id": "9282", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9282" } ], "weight": 0.0 }, { "disease_id": "DOID:9408", "name": "acute myocardial infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:9408", "evidence": [ { "id": "9408", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9408" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "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": "A0A8M3B5N7", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B5N7" } ], "pmid": "" }, { "name": "endopeptidase inhibitor activity", "id": "GO:0004866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004866", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B5N7", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B5N7" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": 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Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. 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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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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: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 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": 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This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus.", "url": "https://disease-ontology.org/term/DOID:10459", "evidence": [ { "id": "10459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10459" } ], "weight": 0.0 }, { "disease_id": "DOID:11077", "name": "brucellosis", "description": "A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue.", "url": "https://disease-ontology.org/term/DOID:11077", "evidence": [ { "id": "11077", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11077" } ], "weight": 0.0 }, { "disease_id": "DOID:11265", "name": "trachoma", "description": "A commensal bacterial infectious disease that results_in infection located_in eye, has_material_basis_in Chlamydia trachomatis (A, B, Ba and C serovars), which is transmitted_by contact with eye discharge from the infected person and transmitted_by congenital method. The infection causes eyelid to turn inward which makes eyelashes to scratch the cornea.", "url": "https://disease-ontology.org/term/DOID:11265", "evidence": [ { "id": "11265", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11265" } ], "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: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:1273", "name": "respiratory syncytial virus infectious disease", "description": "A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus (Orthopneumovirus hominis), which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress.", "url": "https://disease-ontology.org/term/DOID:1273", "evidence": [ { "id": "1273", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1273" } ], "weight": 0.0 }, { "disease_id": "DOID:13078", "name": "eumycotic mycetoma", "description": "A dermatomycosis that effects skin and subcutaneous tissue located in foot, located in trunk, located in buttocks, located in eyelids, located in lacrimal glands, located in paranasal sinuses, located in mandible, located in scalp, located in neck, located in perineum, or located in testes and has symptom sinus discharge and results in formation of nodules.", "url": "https://disease-ontology.org/term/DOID:13078", "evidence": [ { "id": "13078", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13078" } ], "weight": 0.0 }, { "disease_id": "DOID:13608", "name": "biliary atresia", "description": "A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder.", "url": "https://disease-ontology.org/term/DOID:13608", "evidence": [ { "id": "13608", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13608" } ], "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:1852", "name": "intrahepatic cholestasis", "description": "A cholestasis characterized by impairment of the bile flow caused by obstruction located_in liver.", "url": "https://disease-ontology.org/term/DOID:1852", "evidence": [ { "id": "1852", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1852" } ], "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:2272", "name": "vulvovaginal candidiasis", "description": "A candidiasis that involves fungal infection of the vaginal mucous membranes in women caused by Candida albicans. The symptoms include intense vulval pruritus, burning, erythema and dyspareunia associated with a creamy white, curd-like discharge.", "url": "https://disease-ontology.org/term/DOID:2272", "evidence": [ { "id": "2272", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2272" } ], "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:2755", "name": "Mycobacterium avium complex disease", "description": "A primary bacterial infectious disease that results_in infection, has_material_basis_in Mycobacterium avium complex (MAC), which is transmitted_by inhalation or transmitted_by ingestion of via the respiratory or gastrointestinal tract respectively. The bacteria cause disseminated infection in HIV infected people, while pulmonary disease in immunocompetent persons.", "url": "https://disease-ontology.org/term/DOID:2755", "evidence": [ { "id": "2755", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2755" } ], "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:2945", "name": "severe acute respiratory syndrome", "description": "A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Severe acute respiratory syndrome coronavirus (SARS-CoV or SARS-CoV-1), a subtype of Betacoronavirus pandemicum, which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:321", "name": "HTLV-1-associated myelopathy/tropical spastic paraparesis", "description": "A viral infectious disease that results in inflammation located in spinal cord, has_material_basis_in human T-cell leukemia virus type 1 (Deltaretrovirus priTlym1), which is transmitted by sexual contact, and transmitted by breast feeding. The infection has symptom spastic weakness of both legs, has symptom muscle stiffness, has symptom sensory disturbance, and has symptom spasms.", "url": "https://disease-ontology.org/term/DOID:321", "evidence": [ { "id": "321", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:321" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4029", "name": "gastritis", "description": "A stomach disease that is an inflammation of the lining of the stomach.", "url": "https://disease-ontology.org/term/DOID:4029", "evidence": [ { "id": "4029", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4029" } ], "weight": 0.0 }, { "disease_id": "DOID:4033", "name": "bacterial gastritis", "description": "A gastritis that involves inflammation of the stomach lining caused by bacteria. The disease has_symptom abdominal pain, has_symptom indigestion, has_symptom ulcer formation, has_symptom abdominal bloating, has_symptom nausea and has_symptom vomiting.", "url": "https://disease-ontology.org/term/DOID:4033", "evidence": [ { "id": "4033", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4033" } ], "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:5517", "name": "stomach carcinoma", "description": "A stomach cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:5517", "evidence": [ { "id": "5517", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5517" } ], "weight": 0.0 }, { "disease_id": "DOID:559", "name": "acute pyelonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:559", "evidence": [ { "id": "559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:559" } ], "weight": 0.0 }, { "disease_id": "DOID:646", "name": "viral encephalitis", "description": "An encephalitis that involves inflammation of the brain caused by viral infection.", "url": "https://disease-ontology.org/term/DOID:646", "evidence": [ { "id": "646", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:646" } ], "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:9146", "name": "visceral leishmaniasis", "description": "A leishmaniasis that is the most severe form of the disease caused by protozoan parasites of the Leishmania genus, resulting in the infection of the internal organs such as liver, spleen and bone marrow. The symptoms include fever, weight loss, and an enlarged spleen and liver.", "url": "https://disease-ontology.org/term/DOID:9146", "evidence": [ { "id": "9146", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9146" } ], "weight": 0.0 } ], "biological_process": [ { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KYH9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2KYH9" } ], "pmid": "" }, { "name": "vasculogenesis", "id": "GO:0001570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001570", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KYH9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2KYH9" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KYH9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2KYH9" } ], "pmid": "" }, { "name": "antimicrobial humoral immune response mediated by antimicrobial peptide", "id": "GO:0061844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061844", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KYH9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2KYH9" } ], "pmid": "" }, { "name": "hematopoietic stem cell differentiation", "id": "GO:0060218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060218", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KYH9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2KYH9" } ], "pmid": "" }, { "name": "leukocyte migration involved in inflammatory response", "id": "GO:0002523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002523", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KYH9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2KYH9" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KYH9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2KYH9" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KYH9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2KYH9" } ], "pmid": "" }, { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KYH9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2KYH9" } ], "pmid": "" }, { "name": "hematopoietic progenitor cell differentiation", "id": "GO:0002244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002244", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KYH9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2KYH9" } ], "pmid": "" }, { "name": "granulocyte chemotaxis", "id": "GO:0071621", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071621", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KYH9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2KYH9" } ], "pmid": "" }, { "name": "cellular response to vitamin D", "id": "GO:0071305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071305", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KYH9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2KYH9" } ], "pmid": "" }, { "name": "neutrophil chemotaxis", "id": "GO:0030593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030593", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KYH9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2KYH9" } ], "pmid": "" }, { "name": "cellular response to molecule of bacterial origin", "id": "GO:0071219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071219", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KYH9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2KYH9" } ], "pmid": "" }, { "name": "neutrophil migration", "id": "GO:1990266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990266", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KYH9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2KYH9" } ], "pmid": "" }, { "name": "endothelial to hematopoietic transition", "id": "GO:0098508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098508", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KYH9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2KYH9" } ], "pmid": "" }, { "name": "regulation of granuloma formation", "id": "GO:0002631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002631", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KYH9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2KYH9" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KYH9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2KYH9" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KYH9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2KYH9" } ], "pmid": "" } ], "molecular_function": [ { "name": "chemoattractant activity", "id": "GO:0042056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042056", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KYH9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2KYH9" } ], "pmid": "" }, { "name": "chemokine activity", "id": "GO:0008009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008009", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KYH9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2KYH9" } ], "pmid": "" }, { "name": "CXCR chemokine receptor binding", "id": "GO:0045236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045236", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KYH9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2KYH9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "A0A0G2L7I0-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A0G2L7I0", "url": "https://www.uniprot.org/uniprotkb/A0A0G2L7I0" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 636, "chemical_mass": 70224.0, "gene_names": "sprtn", "protein_name": "DNA-dependent metalloprotease SPRTN", "disease": [ { "disease_id": "DOID:0111264", "name": "Ruijs-Aalfs syndrome", "description": "A syndrome characterized by genomic instability and susceptibility toward early onset hepatocellular carcinoma that has_material_basis_in homozygous or compound heterozygous mutation in SPRTN on 1q42.2.", "url": "https://disease-ontology.org/term/DOID:0111264", "evidence": [ { "id": "0111264", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111264" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "metalloendopeptidase activity", "id": "GO:0004222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004222", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2L7I0", "url": "https://www.uniprot.org/uniprotkb/A0A0G2L7I0" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2L7I0", "url": "https://www.uniprot.org/uniprotkb/A0A0G2L7I0" } ], "pmid": "" }, { "name": "polyubiquitin modification-dependent protein binding", "id": "GO:0031593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031593", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2L7I0", "url": "https://www.uniprot.org/uniprotkb/A0A0G2L7I0" } ], "pmid": "" }, { "name": "double-stranded DNA binding", "id": "GO:0003690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003690", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2L7I0", "url": 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"pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IN60", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IN60" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IN60", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IN60" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IN60", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IN60" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IN60", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0008083", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IN60", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IN60" } ], "pmid": "" }, { "name": "fibroblast growth factor receptor binding", "id": "GO:0005104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005104", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IN60", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IN60" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "A0A0R4IPY6-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IPY6", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IPY6" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 961, "chemical_mass": 109779.0, "gene_names": "ocrl;ocrl;wu:fi09g03;zgc:152864", "protein_name": "Inositol polyphosphate 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"A0A0R4IPY6", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IPY6" } ], "pmid": "" } ], "molecular_function": [ { "name": "phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity", "id": "GO:0004439", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004439", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IPY6", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IPY6" } ], "pmid": "" }, { "name": "inositol-polyphosphate 5-phosphatase activity", "id": "GO:0004445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004445", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IPY6", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IPY6" } ], "pmid": "" }, { "name": "phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity", "id": "GO:0034485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034485", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IPY6", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IPY6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "A0A0R4IQG7-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IQG7", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IQG7" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 1431, "chemical_mass": 161845.0, "gene_names": "nos1;nNOS;nos1;nos", "protein_name": "Nitric oxide synthase", "disease": [ { "disease_id": "DOID:0050453", "name": "lissencephaly", "description": "A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation.", "url": "https://disease-ontology.org/term/DOID:0050453", "evidence": [ { "id": "0050453", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050453" } ], "weight": 0.0 }, { "disease_id": "DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:0050700", "evidence": [ { "id": "0050700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050700" } ], "weight": 0.0 }, { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:0080855", "name": "Parkinsonism", "description": "A movement disorder that is characterized by disturbances of balance, gait and posture.", "url": "https://disease-ontology.org/term/DOID:0080855", "evidence": [ { "id": "0080855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080855" } ], "weight": 0.0 }, { "disease_id": "DOID:0080998", "name": "acute necrotizing pancreatitis", "description": "An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems.", "url": "https://disease-ontology.org/term/DOID:0080998", "evidence": [ { "id": "0080998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080998" } ], "weight": 0.0 }, { "disease_id": "DOID: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:11723", "name": "Duchenne muscular dystrophy", "description": "A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.", "url": "https://disease-ontology.org/term/DOID:11723", "evidence": [ { "id": "11723", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11723" } ], "weight": 0.0 }, { "disease_id": "DOID: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:12577", "name": "urethral obstruction", "description": "", "url": "https://disease-ontology.org/term/DOID:12577", "evidence": [ { "id": "12577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12577" } ], "weight": 0.0 }, { "disease_id": "DOID:12638", "name": "hypertrophic pyloric stenosis", "description": "A pyloric stenosis characterized by the enlargement of the muscle surrounding the pylorus, causing severe projectile non-bilious vomiting.", "url": "https://disease-ontology.org/term/DOID:12638", "evidence": [ { "id": "12638", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12638" } ], "weight": 0.0 }, { "disease_id": "DOID:12935", "name": "alcoholic cardiomyopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:12935", "evidence": [ { "id": "12935", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12935" } ], "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: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: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:1470", "name": "major depressive disorder", "description": "A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality.", "url": "https://disease-ontology.org/term/DOID:1470", "evidence": [ { "id": "1470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1470" } ], "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: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:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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: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: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: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: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: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: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:9164", "name": "achalasia", "description": "An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing.", "url": "https://disease-ontology.org/term/DOID:9164", "evidence": [ { "id": "9164", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9164" } ], "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: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: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 } ], "molecular_function": [ { "name": "nitric-oxide synthase activity", "id": "GO:0004517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004517", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IQG7", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IQG7" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IQG7", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IQG7" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IQG7", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IQG7" } ], "pmid": "" }, { "name": "flavin adenine dinucleotide binding", "id": "GO:0050660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050660", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IQG7", "url": 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"endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IVV0", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IVV0" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IVV0", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IVV0" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IVV0", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IVV0" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IVV0", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IVV0" } ], "pmid": "" }, { 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"url": "https://www.uniprot.org/uniprotkb/A0A0R4IWH7" } ], "pmid": "" }, { "name": "otic vesicle development", "id": "GO:0071599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071599", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IWH7", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IWH7" } ], "pmid": "" }, { "name": "digestive tract development", "id": "GO:0048565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048565", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IWH7", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IWH7" } ], "pmid": "" }, { "name": "endocrine pancreas development", "id": "GO:0031018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031018", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IWH7", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IWH7" } ], "pmid": "" }, { "name": "pattern specification process", "id": "GO:0007389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007389", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IWH7", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IWH7" } ], "pmid": "" }, { "name": "hepatocyte differentiation", "id": "GO:0070365", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070365", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IWH7", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IWH7" } ], "pmid": "" }, { "name": "spindle organization", "id": "GO:0007051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007051", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IWH7", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IWH7" } ], "pmid": "" }, { "name": "digestive system development", "id": "GO:0055123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055123", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IWH7", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IWH7" } ], "pmid": "" }, { "name": "embryonic heart tube development", "id": "GO:0035050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035050", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IWH7", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IWH7" } ], "pmid": "" }, { "name": "midbrain-hindbrain boundary development", "id": "GO:0030917", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030917", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IWH7", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IWH7" } ], "pmid": "" }, { "name": "retinal ganglion cell axon guidance", "id": "GO:0031290", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031290", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IWH7", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IWH7" } ], "pmid": "" }, { "name": "muscle cell development", "id": "GO:0055001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055001", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IWH7", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IWH7" } ], "pmid": "" }, { "name": "eye photoreceptor cell differentiation", "id": "GO:0001754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001754", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IWH7", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IWH7" } ], "pmid": "" }, { "name": "exocrine pancreas development", "id": "GO:0031017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031017", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IWH7", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IWH7" } ], "pmid": "" }, { "name": "endocardium development", "id": "GO:0003157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003157", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IWH7", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IWH7" } ], "pmid": "" }, { "name": "zona limitans intrathalamica formation", "id": "GO:0022006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022006", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IWH7", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IWH7" } ], "pmid": "" }, { "name": "heart jogging", "id": "GO:0003146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003146", 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"GO:0008347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008347", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B8M4", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B8M4" } ], "pmid": "" }, { "name": "neural crest cell migration involved in heart formation", "id": "GO:0003147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003147", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B8M4", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B8M4" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B8M4", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B8M4" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B8M4", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B8M4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "A0A0R4IXX0-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IXX0", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IXX0" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 3609, "chemical_mass": 414358.0, "gene_names": "dmd;Dp71;cb664;dmd;im:6911785;zfDYS;zgc:110165", "protein_name": "Dystrophin", "disease": [ { "disease_id": "DOID:0110461", "name": "dilated cardiomyopathy 3B", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the dystrophin (DMD) gene encoding dystrophin on chromosome Xp21.", "url": "https://disease-ontology.org/term/DOID:0110461", "evidence": [ { "id": "0110461", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110461" } ], "weight": 0.0 }, { "disease_id": "DOID:1059", "name": "intellectual 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} ], "pmid": "" }, { "name": "lens fiber cell differentiation", "id": "GO:0070306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070306", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IY06", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IY06" } ], "pmid": "" }, { "name": "N-acylphosphatidylethanolamine metabolic process", "id": "GO:0070292", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070292", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IY06", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IY06" } ], "pmid": "" }, { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IY06", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IY06" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IY06", "url": 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"gene_names": "myh9a;fi22c04;fj85e11;myh9a;myh9l2;myh9;wu:fi22c04;wu:fj85e11;zgc:162029;zgc:66164", "protein_name": "Myosin-9", "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: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:0060651", "name": "MYH-9 related disease", 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"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: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: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": "calmodulin 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"AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0050782", "name": "Zollinger-Ellison syndrome", "description": "A syndrome that is characterized by the development of a one or more tumors (gastrinoma) in the pancreas, duodenum, or both that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach.", "url": "https://disease-ontology.org/term/DOID:0050782", "evidence": [ { "id": "0050782", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050782" } ], "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": 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prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:10286", "evidence": [ { "id": "10286", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10286" } ], "weight": 0.0 }, { "disease_id": "DOID: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": 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vascular disease that is characterized by a blood clot that forms within the hepatic portal vein.", "url": "https://disease-ontology.org/term/DOID:11695", "evidence": [ { "id": "11695", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11695" } ], "weight": 0.0 }, { "disease_id": "DOID:11714", "name": "gestational diabetes", "description": "A diabetes mellitus that manifests during pregnancy.", "url": "https://disease-ontology.org/term/DOID:11714", "evidence": [ { "id": "11714", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11714" } ], "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": 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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1307" } ], "weight": 0.0 }, { "disease_id": "DOID:14183", "name": "alcoholic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:14183", "evidence": [ { "id": "14183", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14183" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:2154", "name": "nephroblastoma", "description": "A kidney cancer that affects the kidneys and typically occuring in children.", "url": "https://disease-ontology.org/term/DOID:2154", "evidence": [ { "id": "2154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2154" } ], "weight": 0.0 }, { "disease_id": "DOID:2526", "name": "prostate adenocarcinoma", "description": "A prostate carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:2526", "evidence": [ { "id": "2526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2526" } ], "weight": 0.0 }, { "disease_id": "DOID:2986", "name": "IgA glomerulonephritis", "description": "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.", "url": "https://disease-ontology.org/term/DOID:2986", "evidence": [ { "id": "2986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2986" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ], "weight": 0.0 }, { "disease_id": "DOID:3602", "name": "toxic encephalopathy", "description": "A nervous system disease that results from exposure to neurotoxicants and is characterized by an altered mental status, memory loss, and visual problems.", "url": "https://disease-ontology.org/term/DOID:3602", "evidence": [ { "id": "3602", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3602" } ], "weight": 0.0 }, { "disease_id": "DOID:4194", "name": "glucose metabolism disease", "description": "A carbohydrate metabolic disorder that is characterized by blood glucose levels which cannot be maintained within the normal range.", "url": "https://disease-ontology.org/term/DOID:4194", "evidence": [ { "id": "4194", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4194" } ], "weight": 0.0 }, { "disease_id": "DOID:4248", "name": "coronary stenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:4248", "evidence": [ { "id": "4248", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4248" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4467", "name": "clear cell renal cell carcinoma", "description": "A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope.", "url": "https://disease-ontology.org/term/DOID:4467", "evidence": [ { "id": "4467", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4467" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:535", "name": "sleep disorder", "description": "A disease of mental health that involves disruption of sleep patterns.", "url": "https://disease-ontology.org/term/DOID:535", "evidence": [ { "id": "535", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:535" } ], "weight": 0.0 }, { "disease_id": "DOID:5577", "name": "gastrinoma", "description": "A neuroendocrine tumor that results_in an overproduction of gastric acid.", "url": "https://disease-ontology.org/term/DOID:5577", "evidence": [ { "id": "5577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5577" } ], "weight": 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"url": "https://www.alliancegenome.org/disease/DOID:769" } ], "weight": 0.0 }, { "disease_id": "DOID:7998", "name": "hyperthyroidism", "description": "A thyroid gland disease that involves an over production of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:7998", "evidence": [ { "id": "7998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7998" } ], "weight": 0.0 }, { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", 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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:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter.", "url": "https://disease-ontology.org/term/DOID:9620", "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ], "weight": 0.0 }, { "disease_id": 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"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:1470", "name": "major depressive disorder", "description": "A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality.", "url": "https://disease-ontology.org/term/DOID:1470", "evidence": [ { "id": "1470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1470" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the 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"https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID: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:264", "name": "hemangiopericytoma", "description": "A hemangiopericytic tumor that is a soft tissue sarcoma and 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"https://www.alliancegenome.org/disease/DOID:303" } ], "weight": 0.0 }, { "disease_id": "DOID:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:3314", "name": "angiomyolipoma", "description": "A cell type benign neoplasm that is primarily located in the kidneys but may be found in the lungs, liver or other organs and is derived from perivascular epithelioid cells.", "url": "https://disease-ontology.org/term/DOID:3314", "evidence": [ { "id": "3314", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3314" } ], "weight": 0.0 }, { "disease_id": "DOID:3742", "name": "bladder squamous cell carcinoma", "description": "A carcinoma of bladder that is manifested in squamous cells of the bladder.", "url": "https://disease-ontology.org/term/DOID:3742", "evidence": [ { "id": "3742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3742" } ], "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:3962", "name": "follicular thyroid carcinoma", "description": "A differentiated thyroid gland carcinoma that has_material_basis_in follicular cells.", "url": "https://disease-ontology.org/term/DOID:3962", "evidence": [ { "id": "3962", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3962" } ], "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:4586", "name": "familial meningioma", "description": "", "url": "https://disease-ontology.org/term/DOID:4586", "evidence": [ { "id": "4586", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4586" } ], "weight": 0.0 }, { "disease_id": "DOID:4928", "name": "intrahepatic cholangiocarcinoma", "description": "A cholangiocarcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree.", "url": "https://disease-ontology.org/term/DOID:4928", "evidence": [ { "id": "4928", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4928" } ], "weight": 0.0 }, { 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"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:76", "name": "stomach disease", "description": "A gastrointestinal system disease that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:76", "evidence": [ { "id": "76", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:76" } ], "weight": 0.0 }, { "disease_id": "DOID:8029", "name": "sporadic breast cancer", "description": "A breast carcinoma that occurs in people who do not have a family history of that cancer or an inherited change in their DNA that would increase their risk for that cancer.", "url": "https://disease-ontology.org/term/DOID:8029", "evidence": [ { "id": "8029", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8029" } ], "weight": 0.0 }, { "disease_id": "DOID:8719", "name": "in situ carcinoma", "description": "A carcinoma that is an early development defined by the absence of invasion of surrounding tissues.", "url": "https://disease-ontology.org/term/DOID:8719", "evidence": [ { "id": "8719", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8719" } ], "weight": 0.0 }, { "disease_id": "DOID:8805", "name": "intermediate coronary syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:8805", "evidence": [ { "id": "8805", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8805" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:8991", "name": "cervix uteri carcinoma in situ", "description": "An uterus carcinoma in situ that is located_in the uterine cervix.", "url": "https://disease-ontology.org/term/DOID:8991", "evidence": [ { "id": "8991", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8991" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { 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"https://www.ebi.ac.uk/QuickGO/term/GO:0030097", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1PHN1", "url": "https://www.uniprot.org/uniprotkb/A0A8M1PHN1" } ], "pmid": "" }, { "name": "regulation of cell differentiation", "id": "GO:0045595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045595", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1PHN1", "url": "https://www.uniprot.org/uniprotkb/A0A8M1PHN1" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0043491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043491", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1PHN1", "url": "https://www.uniprot.org/uniprotkb/A0A8M1PHN1" } ], "pmid": "" }, { "name": "cell motility", "id": "GO:0048870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048870", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1PHN1", "url": "https://www.uniprot.org/uniprotkb/A0A8M1PHN1" } ], "pmid": "" }, { "name": "phosphatidylinositol dephosphorylation", "id": "GO:0046856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046856", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1PHN1", "url": "https://www.uniprot.org/uniprotkb/A0A8M1PHN1" } ], "pmid": "" }, { "name": "myeloid cell development", "id": "GO:0061515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061515", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1PHN1", "url": "https://www.uniprot.org/uniprotkb/A0A8M1PHN1" } ], "pmid": "" }, { "name": "positive regulation of macromolecule metabolic process", "id": "GO:0010604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010604", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1PHN1", "url": "https://www.uniprot.org/uniprotkb/A0A8M1PHN1" } ], "pmid": "" }, { "name": "axon regeneration", "id": "GO:0031103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031103", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1PHN1", "url": "https://www.uniprot.org/uniprotkb/A0A8M1PHN1" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1PHN1", "url": "https://www.uniprot.org/uniprotkb/A0A8M1PHN1" } ], "pmid": "" }, { "name": "negative regulation of signaling", "id": "GO:0023057", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023057", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1PHN1", "url": "https://www.uniprot.org/uniprotkb/A0A8M1PHN1" } ], "pmid": "" }, { "name": "negative regulation of cell communication", "id": "GO:0010648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010648", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1PHN1", "url": "https://www.uniprot.org/uniprotkb/A0A8M1PHN1" } ], "pmid": "" }, { "name": "myeloid cell activation involved in immune response", "id": "GO:0002275", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002275", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1PHN1", "url": "https://www.uniprot.org/uniprotkb/A0A8M1PHN1" } ], "pmid": "" }, { "name": "lifelong otolith mineralization", "id": "GO:0031174", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031174", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1PHN1", "url": "https://www.uniprot.org/uniprotkb/A0A8M1PHN1" } ], "pmid": "" }, { "name": "negative regulation of cellular component organization", "id": "GO:0051129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051129", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1PHN1", "url": "https://www.uniprot.org/uniprotkb/A0A8M1PHN1" } ], "pmid": "" } ], "molecular_function": [ { "name": "phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity", "id": "GO:0016314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016314", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1PHN1", "url": "https://www.uniprot.org/uniprotkb/A0A8M1PHN1" } ], "pmid": "" }, { "name": "phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity", "id": "GO:0051800", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051800", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1PHN1", "url": "https://www.uniprot.org/uniprotkb/A0A8M1PHN1" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1PHN1", "url": "https://www.uniprot.org/uniprotkb/A0A8M1PHN1" } ], "pmid": "" }, { "name": "protein serine/threonine phosphatase activity", "id": "GO:0004722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004722", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1PHN1", "url": "https://www.uniprot.org/uniprotkb/A0A8M1PHN1" } ], "pmid": "" }, { "name": "lipid phosphatase activity", "id": "GO:0042577", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042577", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1PHN1", "url": "https://www.uniprot.org/uniprotkb/A0A8M1PHN1" } ], "pmid": "" }, { "name": "phosphatidylinositol-3-phosphate phosphatase activity", "id": "GO:0004438", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004438", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1PHN1", "url": "https://www.uniprot.org/uniprotkb/A0A8M1PHN1" } ], "pmid": "" }, { "name": "phosphatase activity", "id": "GO:0016791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016791", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1PHN1", "url": "https://www.uniprot.org/uniprotkb/A0A8M1PHN1" } ], "pmid": "" }, { "name": "inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity", "id": "GO:0051717", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051717", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1PHN1", "url": "https://www.uniprot.org/uniprotkb/A0A8M1PHN1" } ], "pmid": "" }, { "name": "protein tyrosine phosphatase activity", "id": "GO:0004725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004725", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1PHN1", "url": 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formation", "id": "GO:0001707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001707", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B949", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B949" } ], "pmid": "" }, { "name": "dorsal/ventral pattern formation", "id": "GO:0009953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009953", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B949", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B949" } ], "pmid": "" }, { "name": "endoderm formation", "id": "GO:0001706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001706", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B949", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B949" } ], "pmid": "" }, { "name": "endodermal cell fate determination", "id": "GO:0007493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007493", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B949", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B949" } ], "pmid": "" }, { "name": "fin regeneration", "id": "GO:0031101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031101", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B949", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B949" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "A0A8M3AZL6-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AZL6", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AZL6" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 2741, "chemical_mass": 317691.0, "gene_names": "cep290;cep290;im:7145703;im:7147820;nphp6", "protein_name": "", "disease": [ { "disease_id": "DOID:0050545", "name": "visceral heterotaxy", "description": "A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen.", "url": "https://disease-ontology.org/term/DOID:0050545", "evidence": [ { "id": "0050545", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050545" } ], "weight": 0.0 }, { "disease_id": "DOID:0050576", "name": "Senior-Loken syndrome", "description": "A syndrome characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease.", "url": "https://disease-ontology.org/term/DOID:0050576", "evidence": [ { "id": "0050576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050576" } ], "weight": 0.0 }, { "disease_id": "DOID:0060340", "name": "ciliopathy", "description": "A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia.", "url": "https://disease-ontology.org/term/DOID:0060340", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ], "weight": 0.0 }, { "disease_id": "DOID:0070118", "name": "Meckel syndrome 4", "description": "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CEP290 gene on chromosome 12q21.32.", "url": "https://disease-ontology.org/term/DOID:0070118", "evidence": [ { "id": "0070118", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070118" } ], "weight": 0.0 }, { "disease_id": "DOID:0110136", "name": "Bardet-Biedl syndrome 14", "description": "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the CEP290 gene on chromosome 12q21.", "url": "https://disease-ontology.org/term/DOID:0110136", "evidence": [ { "id": "0110136", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110136" } ], "weight": 0.0 }, { "disease_id": "DOID:0110291", "name": "Leber congenital amaurosis 10", "description": "A Leber congenital amaurosis that is characterized by severe infantile-onset cone-rod dystrophy with high hyperopia and severe ERG abnormalities and has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.32.", "url": "https://disease-ontology.org/term/DOID:0110291", "evidence": [ { "id": "0110291", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110291" } ], "weight": 0.0 }, { "disease_id": "DOID:0111000", "name": "Joubert syndrome 5", "description": "A Joubert syndrome that has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.", "url": "https://disease-ontology.org/term/DOID:0111000", "evidence": [ { "id": "0111000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111000" } ], "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: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: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:8466", "name": "retinal degeneration", "description": "A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.", "url": "https://disease-ontology.org/term/DOID:8466", "evidence": [ { "id": "8466", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8466" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AZL6", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AZL6" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AZL6", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AZL6" } ], "pmid": "" }, { "name": "photoreceptor cell maintenance", "id": "GO:0045494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045494", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AZL6", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AZL6" } ], "pmid": "" }, { "name": "retina layer formation", "id": "GO:0010842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010842", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AZL6", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AZL6" } ], "pmid": "" }, { "name": "inner ear development", "id": "GO:0048839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048839", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AZL6", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AZL6" } ], "pmid": "" }, { "name": "cell projection organization", "id": "GO:0030030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030030", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AZL6", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AZL6" } ], "pmid": "" }, { "name": "gastrulation", "id": "GO:0007369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007369", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AZL6", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AZL6" } ], "pmid": "" }, { "name": "regulation of cilium assembly", "id": "GO:1902017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902017", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AZL6", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AZL6" } ], "pmid": "" }, { "name": "cerebellum development", "id": "GO:0021549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021549", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AZL6", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AZL6" } ], "pmid": "" }, { "name": "eye photoreceptor cell development", "id": "GO:0042462", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042462", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AZL6", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AZL6" } ], "pmid": "" }, { "name": "otolith formation", "id": "GO:0032475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032475", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AZL6", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AZL6" } ], "pmid": "" }, { "name": "head development", "id": "GO:0060322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060322", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AZL6", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AZL6" } ], "pmid": "" }, { "name": "eye development", "id": "GO:0001654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001654", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AZL6", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AZL6" } ], "pmid": "" }, { "name": "camera-type eye development", "id": "GO:0043010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AZL6", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AZL6" } ], "pmid": "" }, { "name": "determination of heart left/right asymmetry", "id": "GO:0061371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061371", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AZL6", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AZL6" } ], "pmid": "" }, { "name": "otic vesicle formation", "id": "GO:0030916", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030916", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AZL6", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AZL6" } ], "pmid": "" }, { "name": "pronephros development", "id": "GO:0048793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048793", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AZL6", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AZL6" } ], "pmid": "" }, { "name": "otolith mineralization", "id": "GO:0045299", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045299", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AZL6", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AZL6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "A0A8M2BB24-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BB24", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BB24" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 821, "chemical_mass": 93797.0, "gene_names": "stat3;STAT3b1;STAT3b2;stat3;wu:fc15d02;wu:fl59g06;z-Stat3", "protein_name": "Signal transducer and activator of transcription", "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: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: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: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:0060704", "name": "lymphoproliferative syndrome", "description": "A primary immunodeficiency disease characterized by immune dysregulation typically after viral infection, usually associated with Epstein-Barr viral infection.", "url": "https://disease-ontology.org/term/DOID:0060704", "evidence": [ { "id": "0060704", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060704" } ], "weight": 0.0 }, { "disease_id": "DOID:0061160", "name": "infantile onset multisystem autoimmune disease 1", "description": "An infantile onset multisystem autoimmune disease characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs that has_material_basis_in heterozygous gain of function mutation in the STAT3 gene on chromosome 17q21.", "url": "https://disease-ontology.org/term/DOID:0061160", "evidence": [ { "id": "0061160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061160" } ], "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:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0080797", "name": "nasal type extranodal NK/T-cell lymphoma", "description": "A mature T-cell and NK-cell lymphoma that is characterized by an often angiocentric and angiodestructive cellular infiltrate composed of EBV positive NK/T cells.", "url": "https://disease-ontology.org/term/DOID:0080797", "evidence": [ { "id": "0080797", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080797" } ], "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:10286", "name": "prostate carcinoma", "description": "A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:10286", "evidence": [ { "id": "10286", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10286" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:1107", "name": "esophageal carcinoma", "description": "A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1107", "evidence": [ { "id": "1107", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1107" } ], "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: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: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: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:1724", "name": "duodenal ulcer", "description": "", "url": "https://disease-ontology.org/term/DOID:1724", "evidence": [ { "id": "1724", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1724" } ], "weight": 0.0 }, { "disease_id": "DOID:1749", "name": "squamous cell carcinoma", "description": "A carcinoma that derives_from squamous epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1749", "evidence": [ { "id": "1749", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1749" } ], "weight": 0.0 }, { "disease_id": "DOID:1920", "name": "hyperuricemia", "description": "An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood.", "url": "https://disease-ontology.org/term/DOID:1920", "evidence": [ { "id": "1920", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1920" } ], 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Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID:1996", "name": "rectum adenocarcinoma", "description": "A rectum cancer that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:1996", "evidence": [ { "id": "1996", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1996" } ], "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:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3049", "name": "Churg-Strauss syndrome", "description": "A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding.", "url": "https://disease-ontology.org/term/DOID:3049", "evidence": [ { "id": "3049", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3049" } ], "weight": 0.0 }, { "disease_id": "DOID:3068", "name": "glioblastoma", "description": "A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.", "url": "https://disease-ontology.org/term/DOID:3068", "evidence": [ { "id": "3068", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3068" } ], "weight": 0.0 }, { "disease_id": "DOID:3261", "name": "autosomal dominant hyper-IgE syndrome 1 with recurrent infections", "description": "A hyper IgE syndrome that has_material_basis_in heterozygous mutation in the STAT3 gene on chromosome 17q21.", "url": "https://disease-ontology.org/term/DOID:3261", "evidence": [ { "id": "3261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3261" } ], "weight": 0.0 }, { "disease_id": "DOID:3314", "name": "angiomyolipoma", "description": "A cell type benign neoplasm that is primarily located in the kidneys but may be found in the lungs, liver or other organs and is derived from perivascular epithelioid cells.", "url": "https://disease-ontology.org/term/DOID:3314", "evidence": [ { "id": "3314", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3314" } ], "weight": 0.0 }, { "disease_id": "DOID:3319", "name": "lymphangioleiomyomatosis", "description": "A lung disease that is characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas.", "url": "https://disease-ontology.org/term/DOID:3319", "evidence": [ { "id": "3319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3319" } ], "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: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:5520", "name": "head and neck squamous cell carcinoma", "description": "A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck.", "url": "https://disease-ontology.org/term/DOID:5520", "evidence": [ { "id": "5520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5520" } ], "weight": 0.0 }, { "disease_id": "DOID: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:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:8991", "name": "cervix uteri carcinoma in situ", "description": "An uterus carcinoma in situ that is located_in the uterine cervix.", "url": "https://disease-ontology.org/term/DOID:8991", "evidence": [ { "id": "8991", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8991" } ], "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:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 }, { "disease_id": "DOID:9997", "name": "peripartum cardiomyopathy", "description": "A dilated cardiomyopathy that is characterized by a weakness of the heart muscle that begins sometime during the final month of pregnancy through about five months after delivery.", "url": "https://disease-ontology.org/term/DOID:9997", "evidence": [ { "id": "9997", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9997" } ], "weight": 0.0 } ], "biological_process": [ { "name": "retina morphogenesis in camera-type eye", "id": "GO:0060042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060042", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BB24", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BB24" } ], "pmid": "" }, { "name": "cardiac muscle tissue regeneration", "id": "GO:0061026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061026", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BB24", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BB24" } ], "pmid": "" }, { "name": "regulation of bone development", "id": "GO:1903010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903010", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BB24", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BB24" } ], "pmid": "" }, { "name": "notochord morphogenesis", "id": "GO:0048570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048570", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BB24", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BB24" } ], "pmid": "" }, { "name": "positive regulation of glial cell proliferation", "id": "GO:0060252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060252", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BB24", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BB24" } ], "pmid": "" }, { "name": "regeneration", "id": "GO:0031099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031099", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BB24", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BB24" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BB24", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BB24" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BB24", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BB24" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BB24", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BB24" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BB24", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BB24" } ], "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": "A0A8M2BB24", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BB24" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BB24", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BB24" } ], "pmid": "" }, { "name": "cell migration involved in gastrulation", "id": "GO:0042074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042074", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BB24", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BB24" } ], "pmid": "" }, { "name": "germ cell development", "id": "GO:0007281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007281", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BB24", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BB24" } ], "pmid": "" }, { "name": "epithelial to mesenchymal transition", "id": "GO:0001837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001837", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BB24", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BB24" } ], "pmid": "" }, { "name": "inner ear receptor cell development", "id": "GO:0060119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060119", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BB24", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BB24" } ], "pmid": "" }, { "name": "hepatocyte differentiation", "id": "GO:0070365", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070365", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BB24", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BB24" } ], "pmid": "" }, { "name": "establishment of cell polarity", "id": "GO:0030010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030010", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BB24", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BB24" } ], "pmid": "" }, { "name": "axis elongation", "id": "GO:0003401", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003401", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BB24", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BB24" } ], "pmid": "" }, { "name": "motor neuron axon guidance", "id": "GO:0008045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008045", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BB24", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BB24" } ], "pmid": "" }, { "name": "establishment of planar polarity", "id": "GO:0001736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001736", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BB24", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BB24" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway via JAK-STAT", "id": "GO:0007259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007259", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BB24", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BB24" } ], "pmid": "" }, { "name": "posterior lateral line neuromast hair cell development", "id": "GO:0035677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035677", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BB24", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BB24" } ], "pmid": "" }, { "name": "regulation of cell size", "id": "GO:0008361", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008361", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BB24", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BB24" } ], "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": "A0A8M2BB24", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BB24" } ], "pmid": "" }, { "name": "defense response", "id": "GO:0006952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006952", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BB24", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BB24" } ], "pmid": "" }, { "name": "response to peptide hormone", "id": "GO:0043434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043434", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BB24", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BB24" } ], "pmid": "" }, { "name": "growth hormone receptor signaling pathway via JAK-STAT", "id": "GO:0060397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060397", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BB24", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BB24" } ], "pmid": "" }, { "name": "leptin-mediated signaling pathway", "id": "GO:0033210", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033210", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BB24", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BB24" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BB24", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BB24" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BB24", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BB24" } ], "pmid": "" }, { "name": "RNA 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"GO:0009953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009953", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BB70", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BB70" } ], "pmid": "" }, { "name": "notochord development", "id": "GO:0030903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030903", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BB70", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BB70" } ], "pmid": "" }, { "name": "midbrain-hindbrain boundary development", "id": "GO:0030917", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030917", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BB70", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BB70" } ], "pmid": "" }, { "name": "mesoderm development", "id": "GO:0007498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007498", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BB70", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BB70" } ], "pmid": "" }, { "name": "embryonic viscerocranium 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"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": 126, "start_aa": "Thr", "end_pos": 126, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr126", "evidence": [ { "id": "", "database": "GlyGen", "url": "https://data.glygen.org/" } ] } ] } ], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "A2BGM5-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A2BGM5", "url": "https://www.uniprot.org/uniprotkb/A2BGM5" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 550, "chemical_mass": 60968.0, "gene_names": "foxn4;foxn4;slipjig;sli;whna;whn", "protein_name": "Forkhead box protein N4", "disease": [], "biological_process": [ { "name": 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"name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "A2BGM5", "url": "https://www.uniprot.org/uniprotkb/A2BGM5" } ], "pmid": "" }, { "name": "regulation of heart contraction", "id": "GO:0008016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008016", "evidence": [ { "database": "UniProtKB", "id": "A2BGM5", "url": "https://www.uniprot.org/uniprotkb/A2BGM5" } ], "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": "A2BGM5", "url": "https://www.uniprot.org/uniprotkb/A2BGM5" } ], "pmid": "" }, { "name": "retina layer formation", "id": "GO:0010842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010842", "evidence": [ { "database": "UniProtKB", "id": "A2BGM5", "url": "https://www.uniprot.org/uniprotkb/A2BGM5" } ], "pmid": "" }, { "name": "heart looping", "id": "GO:0001947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001947", "evidence": [ { "database": "UniProtKB", "id": "A2BGM5", "url": "https://www.uniprot.org/uniprotkb/A2BGM5" } ], "pmid": "" }, { "name": "ventral spinal cord interneuron fate commitment", "id": "GO:0060579", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060579", "evidence": [ { "database": "UniProtKB", "id": "A2BGM5", "url": "https://www.uniprot.org/uniprotkb/A2BGM5" } ], "pmid": "" }, { "name": "amacrine cell differentiation", "id": "GO:0035881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035881", "evidence": [ { "database": "UniProtKB", "id": "A2BGM5", "url": "https://www.uniprot.org/uniprotkb/A2BGM5" } ], "pmid": "" } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "A2BGM5", "url": "https://www.uniprot.org/uniprotkb/A2BGM5" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "A2BGM5", "url": "https://www.uniprot.org/uniprotkb/A2BGM5" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "A2BGM5", "url": "https://www.uniprot.org/uniprotkb/A2BGM5" } ], "pmid": "" }, { "name": "cis-regulatory region sequence-specific DNA binding", "id": "GO:0000987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000987", "evidence": [ { "database": "UniProtKB", "id": "A2BGM5", "url": "https://www.uniprot.org/uniprotkb/A2BGM5" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "A2BGM5", "url": 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"heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B3N7", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B3N7" } ], "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": "A0A8M3B3N7", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B3N7" } ], "pmid": "" }, { "name": "bone morphogenesis", "id": "GO:0060349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060349", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B3N7", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B3N7" } ], "pmid": "" }, { "name": "cardiac muscle cell differentiation", "id": "GO:0055007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055007", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B3N7", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B3N7" } ], 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} ], "pmid": "" }, { "name": "skeletal muscle myosin thick filament assembly", "id": "GO:0030241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030241", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B3N7", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B3N7" } ], "pmid": "" }, { "name": "ligamentous ossification", "id": "GO:0036076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036076", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B3N7", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B3N7" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B3N7", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B3N7" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B3N7", "url": 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"name": "transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential", "id": "GO:1904315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904315", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BI34", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BI34" } ], "pmid": "" }, { "name": "AMPA glutamate receptor activity", "id": "GO:0004971", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004971", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BI34", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BI34" } ], "pmid": "" }, { "name": "transmitter-gated monoatomic ion channel activity", "id": "GO:0022824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022824", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BI34", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BI34" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "A0A8M2BID5-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BID5", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BID5" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 2059, "chemical_mass": 235142.0, "gene_names": "dspa;dspa;im:6911953;sb:cb570;wu:fc17a08;wu:fk73d01", "protein_name": "Desmoplakin-A", "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": 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"https://www.uniprot.org/uniprotkb/A0A8M2BID5" } ], "pmid": "" }, { "name": "intermediate filament cytoskeleton organization", "id": "GO:0045104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045104", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BID5", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BID5" } ], "pmid": "" }, { "name": "camera-type eye development", "id": "GO:0043010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BID5", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BID5" } ], "pmid": "" }, { "name": "desmosome organization", "id": "GO:0002934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002934", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BID5", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BID5" } ], "pmid": "" }, { "name": "fin regeneration", "id": "GO:0031101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031101", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BID5", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BID5" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural molecule activity", "id": "GO:0005198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005198", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BID5", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BID5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "A0A8M2BJ34-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BJ34", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BJ34" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 542, "chemical_mass": 61528.0, "gene_names": "hexb;fc04h11;hexa;hexb;si:dkey-35i22.2;wu:fc04h11;wu:fv09f06", "protein_name": "Beta-hexosaminidase", "disease": [ { "disease_id": "DOID:12377", "name": "spinal muscular atrophy", 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"glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 755, "chemical_mass": 83777.0, "gene_names": "bap1;si:dkey-42i9.9", "protein_name": "Ubiquitin carboxyl-terminal hydrolase BAP1", "disease": [ { "disease_id": "DOID:0050908", "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:2513", "name": "basal cell carcinoma", "description": "A skin carcinoma affecting basal cells.", "url": "https://disease-ontology.org/term/DOID:2513", "evidence": [ { "id": "2513", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2513" } ], "weight": 0.0 }, { "disease_id": "DOID:3495", "name": "extrahepatic bile duct 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"id": "A0A8M3B525", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B525" } ], "pmid": "" }, { "name": "cysteine-type deubiquitinase activity", "id": "GO:0004843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004843", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B525", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B525" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "A0A8M9P4Z5-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M9P4Z5", "url": "https://www.uniprot.org/uniprotkb/A0A8M9P4Z5" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 507, "chemical_mass": 57400.0, "gene_names": "acvrl1;acvrl1;alk1;hm:zehn1109;vgb;zehn1109", "protein_name": "receptor protein serine/threonine kinase", "disease": [ { "disease_id": "DOID:0060688", "name": "arteriovenous 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"reference_species": "Danio rerio [7955]" } ], "length": 4967, "chemical_mass": 540850.0, "gene_names": "kmt2d;kmt2d", "protein_name": "Histone-lysine N-methyltransferase 2C", "disease": [ { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID:0060473", "name": "Kabuki syndrome", "description": "A syndrome characterized by multiple congenital anomalies and mental retardation. 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"nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3BAQ1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3BAQ1" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3BAQ1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3BAQ1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3BAQ1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3BAQ1" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3BAQ1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3BAQ1" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3BAQ1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3BAQ1" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3BAQ1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3BAQ1" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3BAQ1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3BAQ1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "A0A8M6YTI2-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M6YTI2", "url": "https://www.uniprot.org/uniprotkb/A0A8M6YTI2" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 5109, "chemical_mass": 578788.0, "gene_names": "ryr1b;im:7137738;ryr1b;ryrab;si:dkey-250i19.1", "protein_name": "Ryanodine receptor 1", "disease": [ { "disease_id": "DOID:0080990", "name": "King Denborough syndrome", "description": "A myopathy that is characterized by distinctive facies, ptosis, downslanted palpebral fissures, widely spaced eyes, epicanthal folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, single palmar crease, pectus excavatum, winging of the scapulae, lumbar lordosis, and mild thoracic scoliosis. Pathogenic variants in RYR1 have been found in some individuals with King-Denborough syndrome.", "url": "https://disease-ontology.org/term/DOID:0080990", "evidence": [ { "id": "0080990", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080990" } ], "weight": 0.0 }, { "disease_id": "DOID:0080991", "name": "congenital myopathy 1B", "description": "A congenital myopathy that is characterized by multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores' and that has_material_basis_in homozygous or compound heterozygous mutation in the RYR1 gene on chromosome 19q13. Multiminocore disease is broadly classified into four groups: classic form, moderate form with hand involvement, antenatal form with arthrogryposis multiplex congenita, and ophthalmoplegic form.", "url": "https://disease-ontology.org/term/DOID:0080991", "evidence": [ { "id": "0080991", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080991" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:11714", "name": "gestational diabetes", "description": "A diabetes mellitus that manifests during pregnancy.", "url": "https://disease-ontology.org/term/DOID:11714", "evidence": [ { "id": "11714", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11714" } ], "weight": 0.0 }, { "disease_id": "DOID:13100", "name": "intracranial vasospasm", "description": "", "url": "https://disease-ontology.org/term/DOID:13100", "evidence": [ { "id": "13100", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13100" } ], "weight": 0.0 }, { "disease_id": "DOID:14557", "name": "primary pulmonary hypertension", "description": "A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling.", "url": "https://disease-ontology.org/term/DOID:14557", "evidence": [ { "id": "14557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14557" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:2256", "name": "osteochondrodysplasia", "description": "A bone development disease that results_in defective development of cartilage or bone.", "url": "https://disease-ontology.org/term/DOID:2256", "evidence": [ { "id": "2256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2256" } ], "weight": 0.0 }, { "disease_id": "DOID:3529", "name": "congenital myopathy 1A", "description": "A congenital myopathy that is characterized by muscle weakness primarily affecting the proximal muscles of the lower limbs beginning in infancy or early childhood, although later onset of symptoms has been reported and that has_material_basis_in heterozygous mutation in the ryanodine receptor-1 gene (RYR1) on chromosome 19q13. Heterozygous mutation in the RYR1 gene also causes susceptibility to malignant hyperthermia-1 (MHS1), patients with CMYP1A are at risk for MHS. Biallelic mutations in the RYR1 gene cause autosomal recessive CMYP1B, which shows overlapping features, but is typically more severe.", "url": "https://disease-ontology.org/term/DOID:3529", "evidence": [ { "id": "3529", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3529" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:8545", "name": "malignant hyperthermia", "description": "A muscle tissue disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature and that has_material_basis_in heterozygous mutation in the ryanodine receptor gene (RYR1) on chromosome 19q13. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine).", "url": "https://disease-ontology.org/term/DOID:8545", "evidence": [ { "id": "8545", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8545" } ], "weight": 0.0 } ], "biological_process": [ { "name": "skeletal muscle contraction", "id": "GO:0003009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003009", "evidence": [ { "database": "UniProtKB", "id": "A0A8M6YTI2", "url": "https://www.uniprot.org/uniprotkb/A0A8M6YTI2" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "A0A8M6YTI2", "url": "https://www.uniprot.org/uniprotkb/A0A8M6YTI2" } ], "pmid": "" }, { "name": "skeletal muscle fiber development", "id": "GO:0048741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048741", "evidence": [ { "database": "UniProtKB", "id": "A0A8M6YTI2", "url": "https://www.uniprot.org/uniprotkb/A0A8M6YTI2" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "A0A8M6YTI2", "url": "https://www.uniprot.org/uniprotkb/A0A8M6YTI2" } ], "pmid": "" }, { "name": "striated muscle contraction", "id": "GO:0006941", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006941", "evidence": [ { "database": "UniProtKB", "id": "A0A8M6YTI2", "url": "https://www.uniprot.org/uniprotkb/A0A8M6YTI2" } ], "pmid": "" }, { "name": "smoothened signaling pathway", "id": "GO:0007224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007224", "evidence": [ { "database": "UniProtKB", "id": "A0A8M6YTI2", "url": "https://www.uniprot.org/uniprotkb/A0A8M6YTI2" } ], "pmid": "" }, { "name": "release of sequestered calcium ion into cytosol by sarcoplasmic reticulum", "id": "GO:0014808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014808", "evidence": [ { "database": "UniProtKB", "id": "A0A8M6YTI2", "url": "https://www.uniprot.org/uniprotkb/A0A8M6YTI2" } ], "pmid": "" }, { "name": "slow-twitch skeletal muscle fiber contraction", "id": "GO:0031444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031444", "evidence": [ { "database": "UniProtKB", "id": "A0A8M6YTI2", "url": "https://www.uniprot.org/uniprotkb/A0A8M6YTI2" } ], "pmid": "" }, { "name": "fast-twitch skeletal muscle fiber contraction", "id": "GO:0031443", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031443", "evidence": [ { "database": "UniProtKB", "id": "A0A8M6YTI2", "url": "https://www.uniprot.org/uniprotkb/A0A8M6YTI2" } ], "pmid": "" }, { "name": "larval locomotory behavior", "id": "GO:0008345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008345", "evidence": [ { "database": "UniProtKB", "id": "A0A8M6YTI2", "url": "https://www.uniprot.org/uniprotkb/A0A8M6YTI2" } ], "pmid": "" } ], "molecular_function": [ { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "A0A8M6YTI2", "url": "https://www.uniprot.org/uniprotkb/A0A8M6YTI2" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "A0A8M6YTI2", "url": "https://www.uniprot.org/uniprotkb/A0A8M6YTI2" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "A0A8M6YTI2", "url": "https://www.uniprot.org/uniprotkb/A0A8M6YTI2" } ], "pmid": "" }, { "name": "ryanodine-sensitive calcium-release channel activity", "id": "GO:0005219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005219", "evidence": [ { "database": "UniProtKB", "id": "A0A8M6YTI2", "url": "https://www.uniprot.org/uniprotkb/A0A8M6YTI2" } ], "pmid": "" } ], "cellular_component": [ { "name": "smooth endoplasmic reticulum", "id": "GO:0005790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005790", "evidence": [ { "database": "UniProtKB", "id": "A0A8M6YTI2", "url": "https://www.uniprot.org/uniprotkb/A0A8M6YTI2" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "A0A8M6YTI2", "url": "https://www.uniprot.org/uniprotkb/A0A8M6YTI2" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "A0A8M6YTI2", "url": "https://www.uniprot.org/uniprotkb/A0A8M6YTI2" } ], "pmid": "" }, { "name": "calcium channel complex", "id": "GO:0034704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034704", "evidence": 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"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:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:8456", "name": "choline deficiency disease", "description": "A nutritional deficiency disease that is characterized by deficiency of choline, which has been associated with development of fatty liver, and possibly has_material_basis_in inadequate intake and exacerbated by a genetic predisposition.", "url": 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and ERK2 cascade", "id": "GO:0070371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070371", "evidence": [ { "database": "UniProtKB", "id": "A0A8M6YW86", "url": "https://www.uniprot.org/uniprotkb/A0A8M6YW86" } ], "pmid": "" }, { "name": "atrioventricular valve morphogenesis", "id": "GO:0003181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003181", "evidence": [ { "database": "UniProtKB", "id": "A0A8M6YW86", "url": "https://www.uniprot.org/uniprotkb/A0A8M6YW86" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0043491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043491", "evidence": [ { "database": "UniProtKB", "id": "A0A8M6YW86", "url": "https://www.uniprot.org/uniprotkb/A0A8M6YW86" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "A0A8M6YW86", "url": "https://www.uniprot.org/uniprotkb/A0A8M6YW86" } ], "pmid": "" } ], "molecular_function": [ { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "A0A8M6YW86", "url": "https://www.uniprot.org/uniprotkb/A0A8M6YW86" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "A0A8M6YW86", "url": "https://www.uniprot.org/uniprotkb/A0A8M6YW86" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "A0A8M6YW86", "url": "https://www.uniprot.org/uniprotkb/A0A8M6YW86" } ], "pmid": "" }, { "name": "fibronectin binding", "id": "GO:0001968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001968", "evidence": [ { "database": "UniProtKB", "id": "A0A8M6YW86", "url": "https://www.uniprot.org/uniprotkb/A0A8M6YW86" } ], "pmid": "" }, { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "A0A8M6YW86", "url": "https://www.uniprot.org/uniprotkb/A0A8M6YW86" } ], "pmid": "" }, { "name": "collagen binding involved in cell-matrix adhesion", "id": "GO:0098639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098639", "evidence": [ { "database": "UniProtKB", "id": "A0A8M6YW86", "url": "https://www.uniprot.org/uniprotkb/A0A8M6YW86" } ], "pmid": "" } ], "cellular_component": [ { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "A0A8M6YW86", "url": "https://www.uniprot.org/uniprotkb/A0A8M6YW86" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "A0A8M6YW86", "url": "https://www.uniprot.org/uniprotkb/A0A8M6YW86" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "A0A8M6YW86", "url": "https://www.uniprot.org/uniprotkb/A0A8M6YW86" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "A0A8M6YW86", "url": "https://www.uniprot.org/uniprotkb/A0A8M6YW86" } ], "pmid": "" }, { "name": "melanosome", "id": "GO:0042470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042470", "evidence": [ { "database": "UniProtKB", "id": "A0A8M6YW86", "url": "https://www.uniprot.org/uniprotkb/A0A8M6YW86" } ], "pmid": "" }, { "name": "ruffle membrane", "id": "GO:0032587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032587", "evidence": [ { "database": "UniProtKB", "id": "A0A8M6YW86", "url": "https://www.uniprot.org/uniprotkb/A0A8M6YW86" } ], "pmid": "" }, { "name": "integrin complex", "id": "GO:0008305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008305", "evidence": [ { "database": "UniProtKB", "id": "A0A8M6YW86", "url": "https://www.uniprot.org/uniprotkb/A0A8M6YW86" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "A8WGB1-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A8WGB1", "url": "https://www.uniprot.org/uniprotkb/A8WGB1" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 401, "chemical_mass": 43849.0, "gene_names": "ccbe1;ccbe1;fof", "protein_name": "Collagen and calcium-binding EGF domain-containing protein 1", "disease": [ { "disease_id": "DOID:0060366", "name": "Hennekam syndrome", "description": "A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and 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It is inherited in an autosomal recessive pattern. Most individuals with Hennekam syndrome have characteristic facial abnormalities, such as a flat face with accompanying puffy eyelids and hypertelorism; the nasal bridge is typically flat and the ears are typically small. Congenital extremity and genital lymphedema is present in most patients.", "url": "https://disease-ontology.org/term/DOID:0060366", "evidence": [ { "id": "0060366", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060366" } ], "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": "A8WGB1", "url": "https://www.uniprot.org/uniprotkb/A8WGB1" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "A8WGB1", "url": "https://www.uniprot.org/uniprotkb/A8WGB1" } ], "pmid": "" } ], "molecular_function": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "A8WGB1", "url": "https://www.uniprot.org/uniprotkb/A8WGB1" } ], "pmid": "" } ], "biological_process": [ { "name": "blood vessel morphogenesis", "id": "GO:0048514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048514", "evidence": [ { "database": "UniProtKB", "id": "A8WGB1", "url": "https://www.uniprot.org/uniprotkb/A8WGB1" } ], "pmid": "" }, { "name": "lymphangiogenesis", "id": "GO:0001946", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001946", "evidence": [ { "database": "UniProtKB", "id": "A8WGB1", "url": "https://www.uniprot.org/uniprotkb/A8WGB1" } ], "pmid": "" }, { "name": "sprouting angiogenesis", "id": "GO:0002040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002040", "evidence": [ { "database": "UniProtKB", "id": "A8WGB1", "url": "https://www.uniprot.org/uniprotkb/A8WGB1" } ], "pmid": "" }, { "name": "vascular endothelial growth factor signaling pathway", "id": "GO:0038084", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038084", "evidence": [ { "database": "UniProtKB", "id": "A8WGB1", "url": "https://www.uniprot.org/uniprotkb/A8WGB1" } ], "pmid": "" }, { "name": "lymph vessel development", "id": "GO:0001945", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001945", "evidence": [ { "database": "UniProtKB", "id": "A8WGB1", "url": "https://www.uniprot.org/uniprotkb/A8WGB1" } ], "pmid": "" }, { "name": "venous blood vessel morphogenesis", "id": "GO:0048845", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048845", "evidence": [ { "database": "UniProtKB", "id": "A8WGB1", "url": "https://www.uniprot.org/uniprotkb/A8WGB1" } ], "pmid": "" }, { "name": "venous endothelial cell migration involved in lymph vessel development", "id": "GO:0060855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060855", "evidence": [ { "database": "UniProtKB", "id": "A8WGB1", "url": "https://www.uniprot.org/uniprotkb/A8WGB1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A8WGB1-1", "start_pos": "134", "end_pos": "134", "site_lbl": "Asn134", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 134, "start_aa": "Asn", "end_pos": 134, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn134", "evidence": [ { "id": "A8WGB1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A8WGB1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "A8WGB1-1", "start_pos": "246", "end_pos": "246", "site_lbl": "Thr246", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 246, "start_aa": "Thr", "end_pos": 246, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr246", "evidence": [ { "id": "", "database": "GlyGen", "url": "https://data.glygen.org/" } ] } ] }, { "uniprot_canonical_ac": "A8WGB1-1", "start_pos": "162", "end_pos": "162", "site_lbl": "Asp162", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "In fof(hu3613); lacks the thoracic duct and the previously unidentified intersegmental (ISLVs) and dorsal longitudinal lymphatic vessels (DLLVs) but retains a seemingly normal blood vasculature. Mutants show edema, initiating in the lower intestine and around the eyes from 6 dpf. At 36 dpf, surviving mutants show severe edema.", "evidence": [ { "database": "UniProtKB", "id": "A8WGB1", "url": "https://www.uniprot.org/uniprotkb/A8WGB1" }, { "database": "PubMed", "id": "19287381", "url": "https://glygen.org/publication/PubMed/19287381" } ] } ] } ], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "A0A8M6Z2Y5-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M6Z2Y5", "url": "https://www.uniprot.org/uniprotkb/A0A8M6Z2Y5" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 548, "chemical_mass": 59482.0, "gene_names": "smad4a;madh4;smad4a;smad4;zmp:0000000768", "protein_name": "Mothers against decapentaplegic homolog", "disease": [ { "disease_id": "DOID:0050787", "name": "juvenile polyposis syndrome", "description": "A gastrointestinal system disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum.", "url": "https://disease-ontology.org/term/DOID:0050787", "evidence": [ { "id": "0050787", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050787" } ], "weight": 0.0 }, { "disease_id": "DOID:0050860", "name": "colorectal adenoma", "description": "An intestinal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin and is located_in colon and located_in rectum.", "url": "https://disease-ontology.org/term/DOID:0050860", "evidence": [ { "id": "0050860", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050860" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:0080547", "name": "metabolic dysfunction-associated steatohepatitis", "description": "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis.", "url": "https://disease-ontology.org/term/DOID:0080547", "evidence": [ { "id": "0080547", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080547" } ], "weight": 0.0 }, { "disease_id": "DOID:0111543", "name": "juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome", "description": "A syndrome characterized by hamartomatous polyps in the gastrointestinal tract, telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations of the lungs, liver, brain, and gastrointestinal tract that has_material_basis_in heterozygous mutation in the SMAD4 gene on chromosome 18q21.2.", "url": "https://disease-ontology.org/term/DOID:0111543", "evidence": [ { "id": "0111543", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111543" } ], "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: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:12347", "name": "osteogenesis imperfecta", "description": "An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue.", "url": "https://disease-ontology.org/term/DOID:12347", "evidence": [ { "id": "12347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12347" } ], "weight": 0.0 }, { "disease_id": "DOID:1270", "name": "hereditary hemorrhagic telangiectasia", "description": "A vascular disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins.", "url": "https://disease-ontology.org/term/DOID:1270", "evidence": [ { "id": "1270", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1270" } ], "weight": 0.0 }, { "disease_id": "DOID:14654", "name": "prostatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:14654", "evidence": [ { "id": "14654", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14654" } ], "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: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: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:3119", "name": "gastrointestinal system cancer", "description": "An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system.", "url": "https://disease-ontology.org/term/DOID:3119", "evidence": [ { "id": "3119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3119" } ], "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: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: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:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix.", "url": 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"evidence": [ { "database": "UniProtKB", "id": "A1L1N5", "url": "https://www.uniprot.org/uniprotkb/A1L1N5" } ], "pmid": "" }, { "name": "endoderm formation", "id": "GO:0001706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001706", "evidence": [ { "database": "UniProtKB", "id": "A1L1N5", "url": "https://www.uniprot.org/uniprotkb/A1L1N5" } ], "pmid": "" }, { "name": "type B pancreatic cell development", "id": "GO:0003323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003323", "evidence": [ { "database": "UniProtKB", "id": "A1L1N5", "url": "https://www.uniprot.org/uniprotkb/A1L1N5" } ], "pmid": "" }, { "name": "otic vesicle formation", "id": "GO:0030916", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030916", "evidence": [ { "database": "UniProtKB", "id": "A1L1N5", "url": "https://www.uniprot.org/uniprotkb/A1L1N5" } ], "pmid": "" }, { "name": "hindbrain morphogenesis", "id": "GO:0021575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021575", "evidence": [ { "database": 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{ "database": "UniProtKB", "id": "A1L1N5", "url": "https://www.uniprot.org/uniprotkb/A1L1N5" } ], "pmid": "" }, { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "A1L1N5", "url": "https://www.uniprot.org/uniprotkb/A1L1N5" } ], "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": "A1L1N5", "url": "https://www.uniprot.org/uniprotkb/A1L1N5" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "A1L1N5", "url": "https://www.uniprot.org/uniprotkb/A1L1N5" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A1L1N5", "url": "https://www.uniprot.org/uniprotkb/A1L1N5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "A0A8M9Q308-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M9Q308", "url": "https://www.uniprot.org/uniprotkb/A0A8M9Q308" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 485, "chemical_mass": 54005.0, "gene_names": "flvcr2b;Mfsd7c-b", "protein_name": "Choline/ethanolamine transporter flvcr2b", "disease": [ { "disease_id": "DOID:0111666", "name": "proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome", "description": "A syndrome characterized by hydranencephaly, glomeruloid vasculopathy of the central nervous system and retinal vessels, diffuse clastic 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"GO:0016412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016412", "evidence": [ { "database": "UniProtKB", "id": "B1Q006", "url": "https://www.uniprot.org/uniprotkb/B1Q006" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "A0A8M9QA20-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M9QA20", "url": "https://www.uniprot.org/uniprotkb/A0A8M9QA20" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 1418, "chemical_mass": 158266.0, "gene_names": "nphp4;nphp4", "protein_name": "", "disease": [ { "disease_id": "DOID:0050576", "name": "Senior-Loken syndrome", "description": "A syndrome characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease.", "url": 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failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy).", "url": "https://disease-ontology.org/term/DOID:12712", "evidence": [ { "id": "12712", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12712" } ], "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 } ], "biological_process": [ { "name": "determination of left/right asymmetry in lateral mesoderm", "id": "GO:0003140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003140", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9QA20", "url": "https://www.uniprot.org/uniprotkb/A0A8M9QA20" } ], "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": "A0A8M9QA20", "url": "https://www.uniprot.org/uniprotkb/A0A8M9QA20" } ], "pmid": "" }, { "name": "positive regulation of Wnt signaling pathway, planar cell polarity pathway", "id": "GO:2000096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000096", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9QA20", "url": "https://www.uniprot.org/uniprotkb/A0A8M9QA20" } ], "pmid": "" }, { "name": "regulation of canonical Wnt signaling pathway", "id": "GO:0060828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060828", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9QA20", "url": "https://www.uniprot.org/uniprotkb/A0A8M9QA20" } ], "pmid": "" }, { "name": "cloaca development", "id": "GO:0035844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035844", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9QA20", "url": "https://www.uniprot.org/uniprotkb/A0A8M9QA20" } ], "pmid": "" }, { "name": "Kupffer's vesicle development", "id": "GO:0070121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070121", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9QA20", "url": "https://www.uniprot.org/uniprotkb/A0A8M9QA20" } ], "pmid": "" }, { "name": "axis elongation", "id": "GO:0003401", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003401", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9QA20", "url": "https://www.uniprot.org/uniprotkb/A0A8M9QA20" } ], "pmid": "" }, { "name": "regulation of heart looping", "id": "GO:1901207", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901207", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9QA20", "url": "https://www.uniprot.org/uniprotkb/A0A8M9QA20" } ], "pmid": "" }, { "name": "convergent extension involved in axis elongation", "id": 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"record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "A2BGT3-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A2BGT3", "url": "https://www.uniprot.org/uniprotkb/A2BGT3" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 348, "chemical_mass": 39346.0, "gene_names": "dao.1;dao.1;wu:fb55b11;zgc:113922", "protein_name": "D-amino-acid oxidase", "disease": [ { "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 } ], "biological_process": [ { "name": "D-serine catabolic process", "id": "GO:0036088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036088", "evidence": [ { "database": "UniProtKB", "id": "A2BGT3", "url": "https://www.uniprot.org/uniprotkb/A2BGT3" } ], "pmid": "" }, { "name": "D-alanine catabolic process", "id": "GO:0055130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055130", "evidence": [ { "database": "UniProtKB", "id": "A2BGT3", "url": "https://www.uniprot.org/uniprotkb/A2BGT3" } ], "pmid": "" }, { "name": "L-proline catabolic process", "id": "GO:0006562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006562", "evidence": [ { "database": "UniProtKB", "id": "A2BGT3", "url": "https://www.uniprot.org/uniprotkb/A2BGT3" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "A2BGT3", "url": "https://www.uniprot.org/uniprotkb/A2BGT3" } ], "pmid": "" }, { "name": "peroxisomal matrix", "id": "GO:0005782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005782", "evidence": [ { "database": "UniProtKB", "id": "A2BGT3", "url": "https://www.uniprot.org/uniprotkb/A2BGT3" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "A2BGT3", "url": "https://www.uniprot.org/uniprotkb/A2BGT3" } ], "pmid": "" }, { "name": "presynaptic active zone", "id": "GO:0048786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048786", "evidence": [ { "database": "UniProtKB", "id": "A2BGT3", "url": "https://www.uniprot.org/uniprotkb/A2BGT3" } ], "pmid": "" } ], "molecular_function": [ { "name": "FAD binding", "id": "GO:0071949", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071949", "evidence": [ { "database": "UniProtKB", "id": "A2BGT3", "url": "https://www.uniprot.org/uniprotkb/A2BGT3" } ], "pmid": "" }, { "name": "D-amino-acid oxidase activity", "id": "GO:0003884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003884", "evidence": [ { "database": "UniProtKB", "id": "A2BGT3", "url": "https://www.uniprot.org/uniprotkb/A2BGT3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "A2BIN8-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A2BIN8", "url": "https://www.uniprot.org/uniprotkb/A2BIN8" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 1079, "chemical_mass": 121848.0, "gene_names": "nos2a;inosa;nos2a;nos2;si:dkey-57m14.4", "protein_name": "Nitric oxide synthase", "disease": [ { "disease_id": "DOID:0050453", "name": "lissencephaly", "description": "A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation.", "url": "https://disease-ontology.org/term/DOID:0050453", "evidence": [ { "id": "0050453", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050453" } ], "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: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: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:0060180", "name": "colitis", "description": "An inflammatory bowel disease that involves inflammation located_in colon.", "url": "https://disease-ontology.org/term/DOID:0060180", "evidence": [ { "id": "0060180", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060180" } ], "weight": 0.0 }, { "disease_id": "DOID:0060496", "name": "respiratory allergy", "description": "An allergic disease that is located_in the respiratory tract.", "url": "https://disease-ontology.org/term/DOID:0060496", "evidence": [ { "id": "0060496", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060496" } ], "weight": 0.0 }, { "disease_id": "DOID: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:0080998", "name": "acute necrotizing pancreatitis", "description": "An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems.", "url": "https://disease-ontology.org/term/DOID:0080998", "evidence": [ { "id": "0080998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080998" } ], "weight": 0.0 }, { "disease_id": "DOID:0111579", "name": "asthma, nasal polyps, and aspirin intolerance", "description": "A respiratory system disease characterized by asthma, aspirin-induced bronchoconstriction, and nasal polyps.", "url": "https://disease-ontology.org/term/DOID:0111579", "evidence": [ { "id": "0111579", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111579" } ], "weight": 0.0 }, { "disease_id": "DOID:10112", "name": "sleeping sickness", "description": "A trypanosomiasis that results from infection by Trypanosoma brucei and gambiense, which is transmitted by the bite of an infected tsetse fly (Glossina spp). The symptoms include fever, headache, joint pain, itching, confusion, sensory disturbances, poor coordination and sleep disturbances.", "url": "https://disease-ontology.org/term/DOID:10112", "evidence": [ { "id": "10112", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10112" } ], "weight": 0.0 }, { "disease_id": "DOID:10247", "name": "pleurisy", "description": "A pleural disease that is characterized by inflammation of the pleura, the lining of the pleural cavity surrounding the lungs.", "url": "https://disease-ontology.org/term/DOID:10247", "evidence": [ { "id": "10247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10247" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:1073", "name": "renal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:1073", "evidence": [ { "id": "1073", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1073" } ], "weight": 0.0 }, { "disease_id": "DOID:10754", "name": "otitis media", "description": "A otitis which involves inflammation of the middle ear.", "url": "https://disease-ontology.org/term/DOID:10754", "evidence": [ { "id": "10754", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10754" } ], "weight": 0.0 }, { "disease_id": "DOID: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:10825", "name": "essential hypertension", "description": "A hypertension with no known cause. It is the most common type of hypertension.", "url": "https://disease-ontology.org/term/DOID:10825", "evidence": [ { "id": "10825", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10825" } ], "weight": 0.0 }, { "disease_id": "DOID:11044", "name": "gastroschisis", "description": "", "url": "https://disease-ontology.org/term/DOID:11044", "evidence": [ { "id": "11044", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11044" } ], "weight": 0.0 }, { "disease_id": "DOID: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:11339", "name": "pneumocystosis", "description": "An opportunistic mycosis that is located in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has symptom nonproductive cough, has symptom shortness of breath, and has symptom fever.", "url": "https://disease-ontology.org/term/DOID:11339", "evidence": [ { "id": "11339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11339" } ], "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: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:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies.", "url": "https://disease-ontology.org/term/DOID:12217", "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ], "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: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:1273", "name": "respiratory syncytial virus infectious disease", "description": "A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus (Orthopneumovirus hominis), which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress.", "url": "https://disease-ontology.org/term/DOID:1273", "evidence": [ { "id": "1273", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1273" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1307", "name": "dementia", "description": "A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior.", "url": "https://disease-ontology.org/term/DOID:1307", "evidence": [ { "id": "1307", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1307" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:13406", "name": "pulmonary sarcoidosis", "description": "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.", "url": "https://disease-ontology.org/term/DOID:13406", "evidence": [ { "id": "13406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13406" } ], "weight": 0.0 }, { "disease_id": "DOID: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:13949", "name": "interstitial cystitis", "description": "", "url": "https://disease-ontology.org/term/DOID:13949", "evidence": [ { "id": "13949", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13949" } ], "weight": 0.0 }, { "disease_id": "DOID:1407", "name": "anterior uveitis", "description": "", "url": "https://disease-ontology.org/term/DOID:1407", "evidence": [ { "id": "1407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1407" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:1459", "evidence": [ { "id": "1459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2237", "name": "hepatitis", "description": "A liver disease that is characterized as an inflammation of the liver.", "url": "https://disease-ontology.org/term/DOID:2237", "evidence": [ { "id": "2237", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2237" } ], "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:2799", "name": "bronchiolitis obliterans", "description": "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults.", "url": "https://disease-ontology.org/term/DOID:2799", "evidence": [ { "id": "2799", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2799" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:3082", "name": "interstitial lung disease", "description": "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough.", "url": "https://disease-ontology.org/term/DOID:3082", "evidence": [ { "id": "3082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3082" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:4481", "name": "allergic rhinitis", "description": "A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.", "url": "https://disease-ontology.org/term/DOID:4481", "evidence": [ { "id": "4481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4481" } ], "weight": 0.0 }, { "disease_id": "DOID:4483", "name": "rhinitis", "description": "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.", "url": "https://disease-ontology.org/term/DOID:4483", "evidence": [ { "id": "4483", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4483" } ], "weight": 0.0 }, { "disease_id": "DOID:4676", "name": "uremia", "description": "", "url": "https://disease-ontology.org/term/DOID:4676", "evidence": [ { "id": "4676", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4676" } ], "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: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: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:607", "name": "paraplegia", "description": "", "url": "https://disease-ontology.org/term/DOID:607", "evidence": [ { "id": "607", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:607" } ], "weight": 0.0 }, { "disease_id": "DOID: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:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", "evidence": [ { "id": "7693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ], "weight": 0.0 }, { "disease_id": "DOID:841", "name": "extrinsic allergic alveolitis", "description": "An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss.", "url": "https://disease-ontology.org/term/DOID:841", "evidence": [ { "id": "841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:841" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:8680", "name": "alcoholic gastritis", "description": "", "url": "https://disease-ontology.org/term/DOID:8680", "evidence": [ { "id": "8680", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8680" } ], "weight": 0.0 }, { "disease_id": "DOID:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "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: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:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "nitric-oxide synthase activity", "id": "GO:0004517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004517", "evidence": [ { "database": "UniProtKB", "id": "A2BIN8", "url": "https://www.uniprot.org/uniprotkb/A2BIN8" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "A2BIN8", "url": "https://www.uniprot.org/uniprotkb/A2BIN8" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "A2BIN8", "url": "https://www.uniprot.org/uniprotkb/A2BIN8" } ], "pmid": "" }, { "name": "flavin adenine dinucleotide binding", "id": "GO:0050660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050660", "evidence": [ { "database": "UniProtKB", "id": "A2BIN8", "url": "https://www.uniprot.org/uniprotkb/A2BIN8" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "A2BIN8", "url": "https://www.uniprot.org/uniprotkb/A2BIN8" } ], "pmid": "" }, { "name": "FMN binding", "id": "GO:0010181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010181", "evidence": [ { "database": "UniProtKB", "id": "A2BIN8", "url": "https://www.uniprot.org/uniprotkb/A2BIN8" } ], "pmid": "" }, { "name": "NADP binding", "id": "GO:0050661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050661", "evidence": [ { "database": "UniProtKB", "id": "A2BIN8", "url": "https://www.uniprot.org/uniprotkb/A2BIN8" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A2BIN8", "url": "https://www.uniprot.org/uniprotkb/A2BIN8" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "A2BIN8", "url": "https://www.uniprot.org/uniprotkb/A2BIN8" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A2BIN8", "url": "https://www.uniprot.org/uniprotkb/A2BIN8" } ], "pmid": "" } ], "biological_process": [ { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "A2BIN8", "url": "https://www.uniprot.org/uniprotkb/A2BIN8" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "A2BIN8", "url": "https://www.uniprot.org/uniprotkb/A2BIN8" } ], "pmid": "" }, { "name": "negative regulation of blood pressure", "id": "GO:0045776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045776", "evidence": [ { "database": "UniProtKB", "id": "A2BIN8", "url": "https://www.uniprot.org/uniprotkb/A2BIN8" } ], "pmid": "" }, { 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"id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "A4IG62", "url": "https://www.uniprot.org/uniprotkb/A4IG62" } ], "pmid": "" }, { "name": "DNA recombination", "id": "GO:0006310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006310", "evidence": [ { "database": "UniProtKB", "id": "A4IG62", "url": "https://www.uniprot.org/uniprotkb/A4IG62" } ], "pmid": "" }, { "name": "positive regulation of cell growth", "id": "GO:0030307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030307", "evidence": [ { "database": "UniProtKB", "id": "A4IG62", "url": "https://www.uniprot.org/uniprotkb/A4IG62" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "A4IG62", "url": "https://www.uniprot.org/uniprotkb/A4IG62" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "A4IG62", "url": "https://www.uniprot.org/uniprotkb/A4IG62" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial RNA catabolic process", "id": "GO:0000962", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000962", "evidence": [ { "database": "UniProtKB", "id": "A4IG62", "url": "https://www.uniprot.org/uniprotkb/A4IG62" } ], "pmid": "" }, { "name": "mitochondrial RNA 3'-end processing", "id": "GO:0000965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000965", "evidence": [ { "database": "UniProtKB", "id": "A4IG62", "url": "https://www.uniprot.org/uniprotkb/A4IG62" } ], "pmid": "" }, { "name": "mitochondrial ncRNA surveillance", "id": "GO:0035945", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035945", "evidence": [ { "database": "UniProtKB", "id": "A4IG62", "url": "https://www.uniprot.org/uniprotkb/A4IG62" } ], "pmid": "" }, { "name": "mitochondrial mRNA surveillance", "id": "GO:0035946", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035946", "evidence": [ { "database": "UniProtKB", "id": "A4IG62", "url": "https://www.uniprot.org/uniprotkb/A4IG62" } ], "pmid": "" }, { "name": "mitochondrial RNA surveillance", "id": "GO:2000827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000827", "evidence": [ { "database": "UniProtKB", "id": "A4IG62", "url": "https://www.uniprot.org/uniprotkb/A4IG62" } ], "pmid": "" }, { "name": "RNA catabolic process", "id": "GO:0006401", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006401", "evidence": [ { "database": "UniProtKB", "id": "A4IG62", "url": "https://www.uniprot.org/uniprotkb/A4IG62" } ], "pmid": "" }, { "name": "mitochondrial mRNA catabolic process", "id": "GO:0000958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000958", "evidence": [ { "database": "UniProtKB", "id": "A4IG62", "url": "https://www.uniprot.org/uniprotkb/A4IG62" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "A4IG62", "url": "https://www.uniprot.org/uniprotkb/A4IG62" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "A4IG62", "url": "https://www.uniprot.org/uniprotkb/A4IG62" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "A4IG62", "url": "https://www.uniprot.org/uniprotkb/A4IG62" } ], "pmid": "" }, { "name": "double-stranded RNA binding", "id": "GO:0003725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003725", "evidence": [ { "database": "UniProtKB", "id": "A4IG62", "url": "https://www.uniprot.org/uniprotkb/A4IG62" } ], "pmid": "" }, { "name": "DNA helicase activity", "id": "GO:0003678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003678", "evidence": [ { "database": "UniProtKB", "id": "A4IG62", "url": "https://www.uniprot.org/uniprotkb/A4IG62" } ], "pmid": "" }, { "name": "3'-5' RNA helicase activity", "id": "GO:0034458", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034458", "evidence": [ { "database": "UniProtKB", "id": "A4IG62", "url": "https://www.uniprot.org/uniprotkb/A4IG62" } ], "pmid": "" }, { "name": "RNA helicase activity", "id": "GO:0003724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003724", "evidence": [ { "database": "UniProtKB", "id": "A4IG62", "url": "https://www.uniprot.org/uniprotkb/A4IG62" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A4IG62", "url": "https://www.uniprot.org/uniprotkb/A4IG62" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "A4IG62", "url": "https://www.uniprot.org/uniprotkb/A4IG62" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "A4IG62", "url": "https://www.uniprot.org/uniprotkb/A4IG62" } ], "pmid": "" }, { "name": "mitochondrial nucleoid", "id": "GO:0042645", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042645", "evidence": [ { "database": "UniProtKB", "id": "A4IG62", "url": "https://www.uniprot.org/uniprotkb/A4IG62" } ], "pmid": "" }, { "name": "mitochondrial degradosome", "id": "GO:0045025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045025", "evidence": [ { "database": "UniProtKB", "id": "A4IG62", "url": "https://www.uniprot.org/uniprotkb/A4IG62" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "A5HAK0-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A5HAK0", "url": "https://www.uniprot.org/uniprotkb/A5HAK0" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 149, "chemical_mass": 17011.0, "gene_names": "rnasel3;im:6907218;rnasel3", "protein_name": "Ribonuclease-like 3", "disease": [ { "disease_id": "DOID:0050589", "name": "inflammatory bowel disease", "description": "An intestinal disease characterized by inflammation located in all parts of digestive tract.", "url": "https://disease-ontology.org/term/DOID:0050589", "evidence": [ { "id": "0050589", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050589" } ], "weight": 0.0 }, { "disease_id": "DOID:0060074", "name": "ductal carcinoma in situ", "description": "A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:0060074", "evidence": [ { "id": "0060074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060074" } ], "weight": 0.0 }, { "disease_id": "DOID:0060200", "name": "amyotrophic lateral sclerosis type 9", "description": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ANG gene on chromosome 14.", "url": "https://disease-ontology.org/term/DOID:0060200", "evidence": [ { "id": "0060200", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060200" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID: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:13922", "name": "eosinophilic esophagitis", "description": "An esophagitis characterized by inflammation involving eosinophils located_in esophagus.", "url": "https://disease-ontology.org/term/DOID:13922", "evidence": [ { "id": "13922", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13922" } ], "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: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:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:4085", "name": "trophoblastic neoplasm", "description": "A germ cell and embryonal cancer that derives_from trophoblastic tissue.", "url": "https://disease-ontology.org/term/DOID:4085", "evidence": [ { "id": "4085", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4085" } ], "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:4483", "name": "rhinitis", "description": "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.", "url": "https://disease-ontology.org/term/DOID:4483", "evidence": [ { "id": "4483", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4483" } ], "weight": 0.0 }, { "disease_id": "DOID: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:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "biological_process": [ { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "A5HAK0", "url": "https://www.uniprot.org/uniprotkb/A5HAK0" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "A5HAK0", "url": "https://www.uniprot.org/uniprotkb/A5HAK0" } ], "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": "A5HAK0", "url": "https://www.uniprot.org/uniprotkb/A5HAK0" } ], "pmid": "" }, { "name": "defense response to Gram-positive bacterium", "id": "GO:0050830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050830", "evidence": [ { "database": "UniProtKB", "id": "A5HAK0", "url": "https://www.uniprot.org/uniprotkb/A5HAK0" } ], "pmid": "" }, { "name": "immune system process", "id": "GO:0002376", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002376", "evidence": [ { "database": "UniProtKB", "id": "A5HAK0", "url": "https://www.uniprot.org/uniprotkb/A5HAK0" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "A5HAK0", "url": "https://www.uniprot.org/uniprotkb/A5HAK0" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "A5HAK0", "url": "https://www.uniprot.org/uniprotkb/A5HAK0" } ], "pmid": "" }, { "name": "endonuclease activity", "id": "GO:0004519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004519", "evidence": [ { "database": "UniProtKB", "id": "A5HAK0", "url": "https://www.uniprot.org/uniprotkb/A5HAK0" } ], "pmid": "" }, { "name": "RNA nuclease activity", "id": "GO:0004540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004540", "evidence": [ { "database": "UniProtKB", "id": "A5HAK0", "url": "https://www.uniprot.org/uniprotkb/A5HAK0" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "A5HAK0", "url": "https://www.uniprot.org/uniprotkb/A5HAK0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "A5PL98-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A5PL98", "url": "https://www.uniprot.org/uniprotkb/A5PL98" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 280, "chemical_mass": 31740.0, "gene_names": "sdhb;Ip;fj46d06;sdhb;wu:fj46d06", "protein_name": "Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial", "disease": [ { "disease_id": "DOID:0050771", "name": "pheochromocytoma", "description": "An endocrine organ benign neoplasm that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones that cause either episodic or persistent high blood pressure.", "url": "https://disease-ontology.org/term/DOID:0050771", "evidence": [ { "id": "0050771", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050771" } ], "weight": 0.0 }, { "disease_id": "DOID:0050773", "name": "paraganglioma", "description": "A pheochromocytoma that arises in extraadrenal sympathetic ganglia.", "url": "https://disease-ontology.org/term/DOID:0050773", "evidence": [ { "id": "0050773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050773" } ], "weight": 0.0 }, { "disease_id": "DOID:0060537", "name": "mitochondrial complex II deficiency", "description": "A mitochondrial metabolism disease characterized by a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. It has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q, or the nuclear-encoded SDHD gene on chromosome 11q23.", "url": "https://disease-ontology.org/term/DOID:0060537", "evidence": [ { "id": "0060537", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060537" } ], "weight": 0.0 }, { "disease_id": "DOID:0061219", "name": "pheochromocytoma/paraganglioma syndrome 4", "description": "A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material_basis_in heterozygous mutation in the SDHB gene, which encodes the iron sulfur subunit of succinate dehydrogenase, on chromosome 1p36.", "url": "https://disease-ontology.org/term/DOID:0061219", "evidence": [ { "id": "0061219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061219" } ], "weight": 0.0 }, { "disease_id": "DOID:0080533", "name": "Carney-Stratakis syndrome", "description": "A syndrome that is characterized by the presence of multicentric paragangliomas and multifocal gastrointestinal stromal sarcoma tumors.", "url": "https://disease-ontology.org/term/DOID:0080533", "evidence": [ { "id": "0080533", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080533" } ], "weight": 0.0 }, { "disease_id": "DOID:890", "name": "mitochondrial encephalomyopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:890", "evidence": [ { "id": "890", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:890" } ], "weight": 0.0 }, { "disease_id": "DOID:9253", "name": "gastrointestinal stromal tumor", "description": "", "url": "https://disease-ontology.org/term/DOID:9253", "evidence": [ { "id": "9253", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9253" } ], "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:9408", "name": "acute myocardial infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:9408", "evidence": [ { "id": "9408", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9408" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "A5PL98", "url": "https://www.uniprot.org/uniprotkb/A5PL98" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "A5PL98", "url": "https://www.uniprot.org/uniprotkb/A5PL98" } ], "pmid": "" }, { "name": "respiratory chain complex II (succinate dehydrogenase)", "id": "GO:0045273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045273", "evidence": [ { "database": "UniProtKB", "id": "A5PL98", "url": "https://www.uniprot.org/uniprotkb/A5PL98" } ], "pmid": "" } ], "biological_process": [ { "name": "tricarboxylic acid cycle", "id": "GO:0006099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006099", "evidence": [ { "database": "UniProtKB", "id": "A5PL98", "url": "https://www.uniprot.org/uniprotkb/A5PL98" } ], "pmid": "" }, { "name": "respiratory electron transport chain", "id": "GO:0022904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022904", "evidence": [ { "database": "UniProtKB", "id": "A5PL98", "url": "https://www.uniprot.org/uniprotkb/A5PL98" } ], "pmid": "" }, { "name": "aerobic respiration", "id": "GO:0009060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009060", "evidence": [ { "database": "UniProtKB", "id": "A5PL98", "url": "https://www.uniprot.org/uniprotkb/A5PL98" } ], "pmid": "" }, { "name": "mitochondrial electron transport, succinate to ubiquinone", "id": "GO:0006121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006121", "evidence": [ { "database": "UniProtKB", "id": "A5PL98", "url": "https://www.uniprot.org/uniprotkb/A5PL98" } ], "pmid": "" } ], "molecular_function": [ { "name": "electron transfer activity", "id": "GO:0009055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009055", "evidence": [ { "database": "UniProtKB", "id": "A5PL98", "url": "https://www.uniprot.org/uniprotkb/A5PL98" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "A5PL98", "url": "https://www.uniprot.org/uniprotkb/A5PL98" } ], "pmid": "" }, { "name": "3 iron, 4 sulfur cluster binding", "id": "GO:0051538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051538", "evidence": [ { "database": "UniProtKB", "id": "A5PL98", "url": "https://www.uniprot.org/uniprotkb/A5PL98" } ], "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": "A5PL98", "url": "https://www.uniprot.org/uniprotkb/A5PL98" } ], "pmid": "" }, { "name": "2 iron, 2 sulfur cluster binding", "id": "GO:0051537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051537", "evidence": [ { "database": "UniProtKB", "id": "A5PL98", "url": "https://www.uniprot.org/uniprotkb/A5PL98" } ], "pmid": "" }, { "name": "succinate dehydrogenase (quinone) activity", "id": "GO:0008177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008177", "evidence": [ { "database": "UniProtKB", "id": "A5PL98", "url": "https://www.uniprot.org/uniprotkb/A5PL98" } ], "pmid": "" }, { "name": "ubiquinone binding", "id": "GO:0048039", "url": 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"https://www.uniprot.org/uniprotkb/A5PN09" } ], "pmid": "" } ], "cellular_component": [ { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "A5PN09", "url": "https://www.uniprot.org/uniprotkb/A5PN09" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "A5PN09", "url": "https://www.uniprot.org/uniprotkb/A5PN09" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "A5PN09", "url": "https://www.uniprot.org/uniprotkb/A5PN09" } ], "pmid": "" }, { "name": "cysteine-type endopeptidase activity", "id": "GO:0004197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004197", "evidence": [ { "database": "UniProtKB", "id": "A5PN09", "url": "https://www.uniprot.org/uniprotkb/A5PN09" } ], "pmid": "" }, { "name": "cysteine-type deubiquitinase activity", "id": "GO:0004843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004843", "evidence": [ { "database": "UniProtKB", "id": "A5PN09", "url": "https://www.uniprot.org/uniprotkb/A5PN09" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "A5PN09", "url": "https://www.uniprot.org/uniprotkb/A5PN09" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "A5PN28-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A5PN28", "url": "https://www.uniprot.org/uniprotkb/A5PN28" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 489, "chemical_mass": 50792.0, "gene_names": "otol1a;Gm414;otol1a;otol1;si:dkey-119f1.2", "protein_name": "Otolin-1-A", "disease": [], "biological_process": [ { "name": "extracellular matrix organization", "id": "GO:0030198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", "evidence": [ { "database": "UniProtKB", "id": "A5PN28", "url": "https://www.uniprot.org/uniprotkb/A5PN28" } ], "pmid": "" }, { "name": "protein complex oligomerization", "id": "GO:0051259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051259", "evidence": [ { "database": "UniProtKB", "id": "A5PN28", "url": "https://www.uniprot.org/uniprotkb/A5PN28" } ], "pmid": "" }, { "name": "biomineral tissue development", "id": "GO:0031214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031214", "evidence": [ { "database": "UniProtKB", "id": "A5PN28", "url": "https://www.uniprot.org/uniprotkb/A5PN28" } ], "pmid": "" }, { "name": "otolith development", "id": "GO:0048840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048840", "evidence": [ 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"https://www.ebi.ac.uk/QuickGO/term/GO:0031463", "evidence": [ { "database": "UniProtKB", "id": "A9ULR9", "url": "https://www.uniprot.org/uniprotkb/A9ULR9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A9ULR9-1", "start_pos": "15", "end_pos": "15", "site_lbl": "Thr15", "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": 15, "start_aa": "Thr", "end_pos": 15, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr15", "evidence": [ { "id": "", "database": "GlyGen", "url": "https://data.glygen.org/" } ] } ] } ], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "B0BF33-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "B0BF33", "url": "https://www.uniprot.org/uniprotkb/B0BF33" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 815, "chemical_mass": 90767.0, "gene_names": "pkp2;pkp2;si:ch211-11c20.1", "protein_name": "Plakophilin-2", "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 }, { "disease_id": "DOID:0110077", "name": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "B0BF33", "url": "https://www.uniprot.org/uniprotkb/B0BF33" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "B0BF33", "url": "https://www.uniprot.org/uniprotkb/B0BF33" } ], "pmid": "" }, { "name": "heart looping", "id": "GO:0001947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001947", "evidence": [ { "database": "UniProtKB", "id": "B0BF33", "url": "https://www.uniprot.org/uniprotkb/B0BF33" } ], "pmid": "" }, { "name": "desmosome organization", "id": "GO:0002934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002934", "evidence": [ { "database": "UniProtKB", "id": "B0BF33", "url": "https://www.uniprot.org/uniprotkb/B0BF33" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "B0BF33", "url": "https://www.uniprot.org/uniprotkb/B0BF33" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "B0BF33", "url": "https://www.uniprot.org/uniprotkb/B0BF33" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "B0BF33", "url": "https://www.uniprot.org/uniprotkb/B0BF33" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "B0BF33", "url": "https://www.uniprot.org/uniprotkb/B0BF33" } ], "pmid": "" }, { "name": "intercalated disc", "id": "GO:0014704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014704", "evidence": [ { "database": "UniProtKB", "id": "B0BF33", "url": "https://www.uniprot.org/uniprotkb/B0BF33" } ], "pmid": "" }, { "name": "desmosome", "id": "GO:0030057", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030057", "evidence": [ { "database": "UniProtKB", "id": "B0BF33", "url": "https://www.uniprot.org/uniprotkb/B0BF33" } ], "pmid": "" } ], "molecular_function": [ { "name": "cadherin binding", "id": "GO:0045296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045296", "evidence": [ { "database": "UniProtKB", "id": "B0BF33", "url": "https://www.uniprot.org/uniprotkb/B0BF33" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "B0R059-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "B0R059", "url": "https://www.uniprot.org/uniprotkb/B0R059" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 292, "chemical_mass": 31912.0, "gene_names": "atoh1a;Atoh1.1;ZATH-1;Zath1a;ath1;atoh1a;atoh1;zath1;zgc:136417", "protein_name": "", "disease": [ { "disease_id": "DOID:0070612", "name": "autosomal dominant nonsyndromic deafness 89", "description": "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the ATOH1 gene on chromosome 4q22.", "url": "https://disease-ontology.org/term/DOID:0070612", "evidence": [ { "id": "0070612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070612" } ], "weight": 0.0 } ], "biological_process": [ { "name": "inner ear auditory receptor cell differentiation", "id": "GO:0042491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042491", "evidence": [ { "database": "UniProtKB", "id": "B0R059", "url": "https://www.uniprot.org/uniprotkb/B0R059" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "B0R059", "url": 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"https://www.uniprot.org/uniprotkb/B0R059" } ], "pmid": "" }, { "name": "axon development", "id": "GO:0061564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061564", "evidence": [ { "database": "UniProtKB", "id": "B0R059", "url": "https://www.uniprot.org/uniprotkb/B0R059" } ], "pmid": "" }, { "name": "neuromast hair cell development", "id": "GO:0035675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035675", "evidence": [ { "database": "UniProtKB", "id": "B0R059", "url": "https://www.uniprot.org/uniprotkb/B0R059" } ], "pmid": "" }, { "name": "auditory receptor cell fate determination", "id": "GO:0042668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042668", "evidence": [ { "database": "UniProtKB", "id": "B0R059", "url": "https://www.uniprot.org/uniprotkb/B0R059" } ], "pmid": "" }, { "name": "sensory organ development", "id": "GO:0007423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007423", "evidence": [ { "database": "UniProtKB", "id": "B0R059", "url": "https://www.uniprot.org/uniprotkb/B0R059" } ], "pmid": "" }, { "name": "neuromast development", "id": "GO:0048884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048884", "evidence": [ { "database": "UniProtKB", "id": "B0R059", "url": "https://www.uniprot.org/uniprotkb/B0R059" } ], "pmid": "" }, { "name": "posterior lateral line neuromast development", "id": "GO:0048919", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048919", "evidence": [ { "database": "UniProtKB", "id": "B0R059", "url": "https://www.uniprot.org/uniprotkb/B0R059" } ], "pmid": "" }, { "name": "posterior lateral line neuromast hair cell differentiation", "id": "GO:0048923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048923", "evidence": [ { "database": "UniProtKB", "id": "B0R059", "url": "https://www.uniprot.org/uniprotkb/B0R059" } ], "pmid": "" } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "B0R059", "url": "https://www.uniprot.org/uniprotkb/B0R059" } ], "pmid": "" }, { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "B0R059", "url": "https://www.uniprot.org/uniprotkb/B0R059" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "B0R059", "url": "https://www.uniprot.org/uniprotkb/B0R059" } ], "pmid": "" }, { "name": "E-box binding", "id": "GO:0070888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070888", "evidence": [ { "database": "UniProtKB", "id": "B0R059", "url": "https://www.uniprot.org/uniprotkb/B0R059" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "B0R059", "url": "https://www.uniprot.org/uniprotkb/B0R059" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "B0R0I1-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "B0R0I1", "url": "https://www.uniprot.org/uniprotkb/B0R0I1" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 621, "chemical_mass": 71133.0, "gene_names": "mmp14b;MT-MMPbeta;mmp14b", "protein_name": "Matrix metalloproteinase-14", "disease": [ { "disease_id": "DOID:0080696", "name": "Winchester syndrome", "description": "A syndrome that is characterized by a loss of bone tissue particularly in the hands and feet.", "url": "https://disease-ontology.org/term/DOID:0080696", "evidence": [ { "id": "0080696", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080696" } 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"https://www.uniprot.org/uniprotkb/B0S602" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "B0S602", "url": "https://www.uniprot.org/uniprotkb/B0S602" } ], "pmid": "" }, { "name": "pharyngeal system development", "id": "GO:0060037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060037", "evidence": [ { "database": "UniProtKB", "id": "B0S602", "url": "https://www.uniprot.org/uniprotkb/B0S602" } ], "pmid": "" }, { "name": "pronephric nephron tubule morphogenesis", "id": "GO:0039008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0039008", "evidence": [ { "database": "UniProtKB", "id": "B0S602", "url": "https://www.uniprot.org/uniprotkb/B0S602" } ], "pmid": "" }, { "name": "ventricular system development", "id": "GO:0021591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021591", "evidence": [ { "database": "UniProtKB", "id": "B0S602", "url": "https://www.uniprot.org/uniprotkb/B0S602" } ], "pmid": "" }, { "name": "adrenal gland development", "id": "GO:0030325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030325", "evidence": [ { "database": "UniProtKB", "id": "B0S602", "url": "https://www.uniprot.org/uniprotkb/B0S602" } ], "pmid": "" }, { "name": "cartilage development", "id": "GO:0051216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051216", "evidence": [ { "database": "UniProtKB", "id": "B0S602", "url": "https://www.uniprot.org/uniprotkb/B0S602" } ], "pmid": "" }, { "name": "somite specification", "id": "GO:0001757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001757", "evidence": [ { "database": "UniProtKB", "id": "B0S602", "url": "https://www.uniprot.org/uniprotkb/B0S602" } ], "pmid": "" }, { "name": "embryonic heart tube development", "id": "GO:0035050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035050", "evidence": [ { "database": "UniProtKB", "id": "B0S602", "url": 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"name": "positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032436", "evidence": [ { "database": "UniProtKB", "id": "B3DIV9", "url": "https://www.uniprot.org/uniprotkb/B3DIV9" } ], "pmid": "" }, { "name": "muscle structure development", "id": "GO:0061061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061061", "evidence": [ { "database": "UniProtKB", "id": "B3DIV9", "url": "https://www.uniprot.org/uniprotkb/B3DIV9" } ], "pmid": "" }, { "name": "skeletal muscle fiber differentiation", "id": "GO:0098528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098528", "evidence": [ { "database": "UniProtKB", "id": "B3DIV9", "url": "https://www.uniprot.org/uniprotkb/B3DIV9" } ], "pmid": "" }, { "name": "swimming", "id": "GO:0036268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036268", "evidence": [ { "database": "UniProtKB", "id": "B3DIV9", "url": "https://www.uniprot.org/uniprotkb/B3DIV9" } ], "pmid": "" } ], "molecular_function": [ { "name": "ubiquitin-like ligase-substrate adaptor activity", "id": "GO:1990756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990756", "evidence": [ { "database": "UniProtKB", "id": "B3DIV9", "url": "https://www.uniprot.org/uniprotkb/B3DIV9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "B3DJT0-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "B3DJT0", "url": "https://www.uniprot.org/uniprotkb/B3DJT0" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 951, "chemical_mass": 109735.0, "gene_names": "sart3;SART-3;egy;sart3;si:ch211-191d15.4;unm_sm471;wu:fc51h03;zC191D15.4", "protein_name": "Spliceosome associated factor 3, U4/U6 recycling protein", "disease": [ { "disease_id": "DOID:0111910", "name": "spermatogenic failure", 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} ], "pmid": "" }, { "name": "regulation of intrinsic apoptotic signaling pathway by p53 class mediator", "id": "GO:1902253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902253", "evidence": [ { "database": "UniProtKB", "id": "B3DJT0", "url": "https://www.uniprot.org/uniprotkb/B3DJT0" } ], "pmid": "" }, { "name": "spliceosomal complex assembly", "id": "GO:0000245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000245", "evidence": [ { "database": "UniProtKB", "id": "B3DJT0", "url": "https://www.uniprot.org/uniprotkb/B3DJT0" } ], "pmid": "" }, { "name": "hematopoietic stem cell homeostasis", "id": "GO:0061484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061484", "evidence": [ { "database": "UniProtKB", "id": "B3DJT0", "url": "https://www.uniprot.org/uniprotkb/B3DJT0" } ], "pmid": "" }, { "name": "exocrine pancreas development", "id": "GO:0031017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031017", "evidence": [ { "database": "UniProtKB", "id": "B3DJT0", "url": 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"" }, { "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": "B3G515", "url": "https://www.uniprot.org/uniprotkb/B3G515" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "B3G515", "url": "https://www.uniprot.org/uniprotkb/B3G515" } ], "pmid": "" }, { "name": "heart contraction", "id": "GO:0060047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060047", "evidence": [ { "database": "UniProtKB", "id": "B3G515", "url": "https://www.uniprot.org/uniprotkb/B3G515" } ], "pmid": "" }, { "name": "negative regulation of neuron apoptotic process", "id": "GO:0043524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043524", "evidence": [ { "database": "UniProtKB", "id": "B3G515", "url": "https://www.uniprot.org/uniprotkb/B3G515" } ], 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"record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "B8XY56-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "B8XY56", "url": "https://www.uniprot.org/uniprotkb/B8XY56" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 240, "chemical_mass": 27456.0, "gene_names": "rnaset2;dre2;fc10c06;rnaset2;wu:fc10c06;zgc:113369", "protein_name": "Ribonuclease T2", "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:0081007", "name": "RNASET2-deficient cystic leukoencephalopathy", "description": "A leukodystrophy that is characterized 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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": "E7EZF3", "url": "https://www.uniprot.org/uniprotkb/E7EZF3" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "E7EZF3", "url": "https://www.uniprot.org/uniprotkb/E7EZF3" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "E7EZF3", "url": "https://www.uniprot.org/uniprotkb/E7EZF3" } ], "pmid": "" }, { "name": "euchromatin", "id": "GO:0000791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000791", "evidence": [ { "database": "UniProtKB", "id": "E7EZF3", "url": "https://www.uniprot.org/uniprotkb/E7EZF3" } ], "pmid": "" }, { "name": "replication fork", "id": "GO:0005657", "url": 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"E7F3I6", "url": "https://www.uniprot.org/uniprotkb/E7F3I6" } ], "pmid": "" }, { "name": "mRNA cleavage factor complex", "id": "GO:0005849", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005849", "evidence": [ { "database": "UniProtKB", "id": "E7F3I6", "url": "https://www.uniprot.org/uniprotkb/E7F3I6" } ], "pmid": "" }, { "name": "tRNA-intron endonuclease complex", "id": "GO:0000214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000214", "evidence": [ { "database": "UniProtKB", "id": "E7F3I6", "url": "https://www.uniprot.org/uniprotkb/E7F3I6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "E7F3I6-1", "start_pos": "135", "end_pos": "135", "site_lbl": "Thr135", "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": 135, "start_aa": "Thr", "end_pos": 135, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr135", "evidence": [ { "id": "", "database": "GlyGen", "url": "https://data.glygen.org/" } ] } ] }, { "uniprot_canonical_ac": "E7F3I6-1", "start_pos": "35", "end_pos": "35", "site_lbl": "Leu35", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "R", "comment": "Lethality before 5 days post-fertilization (dpf).", "evidence": [ { "database": "UniProtKB", "id": "E7F3I6", "url": "https://www.uniprot.org/uniprotkb/E7F3I6" }, { "database": "PubMed", "id": "24766810", "url": "https://glygen.org/publication/PubMed/24766810" } ] } ] } ], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "E7F4N7-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "E7F4N7", "url": "https://www.uniprot.org/uniprotkb/E7F4N7" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 398, "chemical_mass": 45299.0, "gene_names": "sting1;sting1;sting;tmem173", "protein_name": "Stimulator of interferon genes protein", "disease": [ { "disease_id": "DOID:0111457", "name": "STING-associated vasculopathy with onset in infancy", "description": "An autoimmune disease of the cardiovascular system characterized by onset in infancy of autoinflammatory vasculopathy causing severe skin lesions, particularly affecting the face, ears, nose, and digits, and resulting in ulceration, eschar formation, necrosis, and, in some cases, amputation that has_material_basis_in heterozygous gain of function mutation in the TMEM173 gene on chromosome 5q31.", "url": "https://disease-ontology.org/term/DOID:0111457", "evidence": [ { "id": "0111457", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111457" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus 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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 } ], "biological_process": [ { "name": "autophagosome assembly", "id": "GO:0000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000045", "evidence": [ { "database": "UniProtKB", "id": "E7F4N7", "url": "https://www.uniprot.org/uniprotkb/E7F4N7" } ], "pmid": "" }, { "name": "regulation of autophagy", "id": "GO:0010506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010506", "evidence": [ { "database": "UniProtKB", "id": "E7F4N7", "url": "https://www.uniprot.org/uniprotkb/E7F4N7" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": 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"binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "E7F654-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "E7F654", "url": "https://www.uniprot.org/uniprotkb/E7F654" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 713, "chemical_mass": 78323.0, "gene_names": "nol9;nol9", "protein_name": "Polynucleotide 5'-hydroxyl-kinase NOL9", "disease": [], "biological_process": [ { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "E7F654", "url": "https://www.uniprot.org/uniprotkb/E7F654" } ], "pmid": "" }, { "name": "digestive tract development", "id": "GO:0048565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048565", "evidence": [ { "database": "UniProtKB", "id": "E7F654", "url": 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"biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "E7F8A7-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "E7F8A7", "url": "https://www.uniprot.org/uniprotkb/E7F8A7" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 450, "chemical_mass": 50652.0, "gene_names": "entpd5a;entpd5a", "protein_name": "nucleoside diphosphate phosphatase", "disease": [], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "E7F8A7", "url": "https://www.uniprot.org/uniprotkb/E7F8A7" } ], "pmid": "" }, { "name": "nucleoside diphosphate phosphatase activity", "id": "GO:0017110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017110", "evidence": [ { "database": "UniProtKB", "id": "E7F8A7", "url": 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"id": "E7F9L8", "url": "https://www.uniprot.org/uniprotkb/E7F9L8" } ], "pmid": "" } ], "biological_process": [ { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "E7F9L8", "url": "https://www.uniprot.org/uniprotkb/E7F9L8" } ], "pmid": "" }, { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "E7F9L8", "url": "https://www.uniprot.org/uniprotkb/E7F9L8" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "E7F9L8", "url": "https://www.uniprot.org/uniprotkb/E7F9L8" } ], "pmid": "" }, { "name": "actin filament-based movement", "id": "GO:0030048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030048", "evidence": [ { "database": "UniProtKB", "id": "E7F9L8", "url": 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"vasculogenesis", "id": "GO:0001570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001570", "evidence": [ { "database": "UniProtKB", "id": "F1REV3", "url": "https://www.uniprot.org/uniprotkb/F1REV3" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "F1REV3", "url": "https://www.uniprot.org/uniprotkb/F1REV3" } ], "pmid": "" }, { "name": "heart contraction", "id": "GO:0060047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060047", "evidence": [ { "database": "UniProtKB", "id": "F1REV3", "url": "https://www.uniprot.org/uniprotkb/F1REV3" } ], "pmid": "" }, { "name": "blood vessel morphogenesis", "id": "GO:0048514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048514", "evidence": [ { "database": "UniProtKB", "id": "F1REV3", "url": "https://www.uniprot.org/uniprotkb/F1REV3" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "F1REV3", "url": "https://www.uniprot.org/uniprotkb/F1REV3" } ], "pmid": "" }, { "name": "heart morphogenesis", "id": "GO:0003007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "evidence": [ { "database": "UniProtKB", "id": "F1REV3", "url": "https://www.uniprot.org/uniprotkb/F1REV3" } ], "pmid": "" }, { "name": "negative regulation of angiogenesis", "id": "GO:0016525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016525", "evidence": [ { "database": "UniProtKB", "id": "F1REV3", "url": "https://www.uniprot.org/uniprotkb/F1REV3" } ], "pmid": "" }, { "name": "negative regulation of endothelial cell differentiation", "id": "GO:0045602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045602", "evidence": [ { "database": "UniProtKB", "id": "F1REV3", "url": "https://www.uniprot.org/uniprotkb/F1REV3" } ], "pmid": "" }, { "name": "cell redox homeostasis", "id": "GO:0045454", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045454", "evidence": [ { "database": "UniProtKB", "id": "F1REV3", "url": "https://www.uniprot.org/uniprotkb/F1REV3" } ], "pmid": "" }, { "name": "atrioventricular valve morphogenesis", "id": "GO:0003181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003181", "evidence": [ { "database": "UniProtKB", "id": "F1REV3", "url": "https://www.uniprot.org/uniprotkb/F1REV3" } ], "pmid": "" }, { "name": "endothelial cell morphogenesis", "id": "GO:0001886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001886", "evidence": [ { "database": "UniProtKB", "id": "F1REV3", "url": "https://www.uniprot.org/uniprotkb/F1REV3" } ], "pmid": "" }, { "name": "vacuole organization", "id": "GO:0007033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007033", "evidence": [ { "database": "UniProtKB", "id": "F1REV3", "url": "https://www.uniprot.org/uniprotkb/F1REV3" } ], "pmid": "" }, { "name": "anterior/posterior axis specification", "id": "GO:0009948", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009948", "evidence": [ { "database": "UniProtKB", "id": "F1REV3", "url": "https://www.uniprot.org/uniprotkb/F1REV3" } ], "pmid": "" }, { "name": "regulation of establishment of cell polarity", "id": "GO:2000114", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000114", "evidence": [ { "database": "UniProtKB", "id": "F1REV3", "url": "https://www.uniprot.org/uniprotkb/F1REV3" } ], "pmid": "" }, { "name": "endocardial cell development", "id": "GO:0060958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060958", "evidence": [ { "database": "UniProtKB", "id": "F1REV3", "url": "https://www.uniprot.org/uniprotkb/F1REV3" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "F1REV3", "url": "https://www.uniprot.org/uniprotkb/F1REV3" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "F1REV3", "url": "https://www.uniprot.org/uniprotkb/F1REV3" } ], "pmid": "" }, { "name": "anchoring junction", "id": "GO:0070161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070161", "evidence": [ { "database": "UniProtKB", "id": "F1REV3", "url": "https://www.uniprot.org/uniprotkb/F1REV3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "F1REV3-1", "start_pos": "449", "end_pos": "449", "site_lbl": "Arg449", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "E", "comment": "Dilated heart phenotype.", "evidence": [ { "database": "UniProtKB", "id": "F1REV3", "url": "https://www.uniprot.org/uniprotkb/F1REV3" }, { "database": "PubMed", "id": "21633110", "url": "https://glygen.org/publication/PubMed/21633110" } ] } ] } ], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "P26630-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "P26630", "url": "https://www.uniprot.org/uniprotkb/P26630" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 437, "chemical_mass": 48425.0, "gene_names": "pax6a;PAXZF-A;Pax6.1;cb280;fc20e07;pax-a;pax6a;pax6;pax[zf-a];paxzf-a;paxzfa;si:dkeyp-46c10.1;wu:fc20e07;zfpax-6a;zfpax-6b", "protein_name": "Paired box protein Pax-6", "disease": [ { "disease_id": "DOID:0060673", "name": "Peters anomaly", "description": "A corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and Descemet membrane that has_material_basis_in mutation in the PAX6 gene on chromosome 11p13, the PITX2 gene on chromosome 4q25, the CYP1B1 gene on chromosome 2p22.2, or the FOXC1 gene on chromosome 6p25.3.", "url": "https://disease-ontology.org/term/DOID:0060673", "evidence": [ { "id": "0060673", "database": "AGR", "url": 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"DOID:0111383", "name": "autosomal dominant keratitis", "description": "A keratitis characterized by corneal opacification and vascularization and foveal hypoplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13.", "url": "https://disease-ontology.org/term/DOID:0111383", "evidence": [ { "id": "0111383", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111383" } ], "weight": 0.0 }, { "disease_id": "DOID:0111531", "name": "bilateral optic nerve hypoplasia", "description": "An optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13.", "url": "https://disease-ontology.org/term/DOID:0111531", "evidence": [ { "id": "0111531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111531" } ], "weight": 0.0 }, { "disease_id": "DOID:10603", "name": "glucose intolerance", "description": "", "url": "https://disease-ontology.org/term/DOID:10603", "evidence": [ { "id": "10603", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10603" } ], "weight": 0.0 }, { "disease_id": "DOID:10629", "name": "microphthalmia", "description": "An eye disease where one or both eyeballs are abnormally small.", "url": "https://disease-ontology.org/term/DOID:10629", "evidence": [ { "id": "10629", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10629" } ], "weight": 0.0 }, { "disease_id": "DOID:1068", "name": "juvenile glaucoma", "description": "A primary open angle glaucoma early age of onset, rapidly progressive with more severely elevated and fluctuating intraocular pressures.", "url": "https://disease-ontology.org/term/DOID:1068", "evidence": [ { "id": "1068", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1068" } ], "weight": 0.0 }, { "disease_id": "DOID:11975", "name": "coloboma of optic nerve", "description": "", "url": "https://disease-ontology.org/term/DOID:11975", "evidence": [ { "id": "11975", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11975" } ], "weight": 0.0 }, { "disease_id": "DOID:12271", "name": "aniridia", "description": "An iris disease that is characterized by a complete or partial absence of the colored part of the eye.", "url": "https://disease-ontology.org/term/DOID:12271", "evidence": [ { "id": "12271", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12271" } ], "weight": 0.0 }, { "disease_id": "DOID:1229", "name": "paranoid schizophrenia", "description": "A schizophrenia characterized by delusions or auditory hallucinations of persecution or being plotted against without thought disorder, disorganized behavior, or affective flattening.", "url": "https://disease-ontology.org/term/DOID:1229", "evidence": [ { "id": "1229", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1229" } ], "weight": 0.0 }, { "disease_id": 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"evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "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: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: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:9649", "name": "congenital nystagmus", "description": "A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction.", "url": "https://disease-ontology.org/term/DOID:9649", "evidence": [ { "id": "9649", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9649" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P26630", "url": "https://www.uniprot.org/uniprotkb/P26630" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "P26630", "url": "https://www.uniprot.org/uniprotkb/P26630" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P26630", "url": "https://www.uniprot.org/uniprotkb/P26630" } ], "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": "P26630", "url": "https://www.uniprot.org/uniprotkb/P26630" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "P26630", "url": "https://www.uniprot.org/uniprotkb/P26630" } ], "pmid": "" }, { "name": "forebrain development", "id": "GO:0030900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030900", "evidence": [ { "database": "UniProtKB", "id": "P26630", "url": "https://www.uniprot.org/uniprotkb/P26630" } ], "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": "P26630", "url": "https://www.uniprot.org/uniprotkb/P26630" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "P26630", "url": "https://www.uniprot.org/uniprotkb/P26630" } ], "pmid": "" }, { "name": "retina development in camera-type eye", "id": "GO:0060041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060041", "evidence": [ { "database": "UniProtKB", "id": "P26630", "url": "https://www.uniprot.org/uniprotkb/P26630" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "P26630", "url": "https://www.uniprot.org/uniprotkb/P26630" } ], "pmid": "" }, { "name": "hindbrain development", "id": "GO:0030902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030902", "evidence": [ { "database": "UniProtKB", "id": "P26630", "url": "https://www.uniprot.org/uniprotkb/P26630" } ], "pmid": "" }, { "name": "retinal rod cell differentiation", "id": "GO:0060221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060221", "evidence": [ { "database": "UniProtKB", "id": "P26630", "url": "https://www.uniprot.org/uniprotkb/P26630" } ], "pmid": "" }, { "name": "type B pancreatic cell differentiation", "id": "GO:0003309", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003309", "evidence": [ { "database": "UniProtKB", "id": "P26630", "url": "https://www.uniprot.org/uniprotkb/P26630" } ], "pmid": "" }, { "name": "sensory organ development", "id": "GO:0007423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007423", "evidence": [ { "database": "UniProtKB", "id": "P26630", "url": "https://www.uniprot.org/uniprotkb/P26630" } ], "pmid": "" }, { "name": "retinal cone cell differentiation", "id": "GO:0042670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042670", "evidence": [ { "database": "UniProtKB", "id": "P26630", "url": "https://www.uniprot.org/uniprotkb/P26630" } ], "pmid": "" }, { "name": "neural crest cell migration", "id": "GO:0001755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001755", "evidence": [ { "database": "UniProtKB", "id": "P26630", "url": "https://www.uniprot.org/uniprotkb/P26630" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "P26630", "url": "https://www.uniprot.org/uniprotkb/P26630" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", 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"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: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:182", "name": "calcinosis", "description": "A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue.", "url": "https://disease-ontology.org/term/DOID:182", "evidence": [ { "id": "182", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:182" } ], "weight": 0.0 }, { "disease_id": "DOID:1911", "name": "endodermal sinus tumor", "description": "A germ cell cancer that has_material_basis_in cells that line the yolk sac of the embryo.", "url": "https://disease-ontology.org/term/DOID:1911", "evidence": [ { "id": "1911", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1911" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID:2154", "name": "nephroblastoma", "description": "A kidney cancer that affects the kidneys and typically occuring in children.", "url": "https://disease-ontology.org/term/DOID:2154", "evidence": [ { "id": "2154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2154" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:2999", "name": "granulosa cell tumor", "description": "A sex cord-gonadal stromal tumor that has_material_basis_in granulosa cells and arises from the sex cord stroma.", "url": "https://disease-ontology.org/term/DOID:2999", "evidence": [ { "id": "2999", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2999" } ], "weight": 0.0 }, { "disease_id": "DOID:305", "name": "carcinoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:305", "evidence": [ { "id": "305", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:305" } ], "weight": 0.0 }, { "disease_id": "DOID:3307", "name": "teratoma", "description": "A germ cell and embryonal cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers.", "url": "https://disease-ontology.org/term/DOID:3307", "evidence": [ { "id": "3307", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3307" } ], "weight": 0.0 }, { "disease_id": "DOID:3457", "name": "invasive lobular carcinoma", "description": "A breast lobular carcinoma that is characterized by infiltration into the tissue of the breast outside of the lobule where it originated.", "url": "https://disease-ontology.org/term/DOID:3457", "evidence": [ { "id": "3457", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3457" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:5015", "name": "fibrolamellar carcinoma", "description": "A hepatocellular carcinoma characterized microscopically by laminated fibrous layers interspersed between the tumour cells. The polygonal, deeply eosinophilic tumor cells arise in non-cirrhotic livers.", "url": "https://disease-ontology.org/term/DOID:5015", "evidence": [ { "id": "5015", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5015" } ], "weight": 0.0 }, { "disease_id": "DOID:5374", "name": "pilomatrixoma", "description": "", "url": "https://disease-ontology.org/term/DOID:5374", "evidence": [ { "id": "5374", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5374" } ], "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:687", "name": "hepatoblastoma", "description": "", "url": "https://disease-ontology.org/term/DOID:687", "evidence": [ { "id": "687", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:687" } ], "weight": 0.0 }, { "disease_id": "DOID:870", "name": "neuropathy", "description": "A nervous system disease that is located_in nerves or nerve cells.", "url": "https://disease-ontology.org/term/DOID:870", "evidence": [ { "id": "870", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:870" } ], "weight": 0.0 }, { "disease_id": "DOID:8719", "name": "in situ carcinoma", "description": "A carcinoma that is an early development defined by the absence of invasion of surrounding tissues.", "url": "https://disease-ontology.org/term/DOID:8719", "evidence": [ { "id": "8719", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8719" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 }, { "disease_id": "DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "weight": 0.0 } ], "biological_process": [ { "name": "embryonic axis specification", "id": "GO:0000578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000578", "evidence": [ { "database": "UniProtKB", "id": "F1QGH7", "url": "https://www.uniprot.org/uniprotkb/F1QGH7" } ], "pmid": "" }, { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "F1QGH7", "url": "https://www.uniprot.org/uniprotkb/F1QGH7" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "F1QGH7", "url": "https://www.uniprot.org/uniprotkb/F1QGH7" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "F1QGH7", "url": "https://www.uniprot.org/uniprotkb/F1QGH7" } ], "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": "F1QGH7", "url": "https://www.uniprot.org/uniprotkb/F1QGH7" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "F1QGH7", "url": "https://www.uniprot.org/uniprotkb/F1QGH7" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "F1QGH7", "url": "https://www.uniprot.org/uniprotkb/F1QGH7" } ], "pmid": "" }, { "name": "ectoderm development", "id": "GO:0007398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007398", "evidence": [ { "database": "UniProtKB", "id": "F1QGH7", "url": "https://www.uniprot.org/uniprotkb/F1QGH7" } ], "pmid": "" }, { "name": "dorsal/ventral pattern formation", "id": "GO:0009953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009953", "evidence": [ { "database": "UniProtKB", "id": "F1QGH7", "url": "https://www.uniprot.org/uniprotkb/F1QGH7" } ], "pmid": "" }, { "name": "glomerular filtration", "id": "GO:0003094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003094", "evidence": [ { "database": "UniProtKB", "id": "F1QGH7", "url": "https://www.uniprot.org/uniprotkb/F1QGH7" } ], "pmid": "" }, { "name": "convergent extension", "id": "GO:0060026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060026", "evidence": [ { "database": "UniProtKB", "id": "F1QGH7", "url": "https://www.uniprot.org/uniprotkb/F1QGH7" } ], "pmid": "" }, { "name": "determination of dorsal/ventral asymmetry", "id": "GO:0048262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048262", "evidence": [ { "database": "UniProtKB", "id": "F1QGH7", "url": "https://www.uniprot.org/uniprotkb/F1QGH7" } ], "pmid": "" }, { "name": "beta-catenin-TCF complex assembly", "id": "GO:1904837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904837", "evidence": [ { "database": "UniProtKB", "id": "F1QGH7", "url": "https://www.uniprot.org/uniprotkb/F1QGH7" } ], "pmid": "" } ], "molecular_function": [ { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "F1QGH7", "url": "https://www.uniprot.org/uniprotkb/F1QGH7" } ], "pmid": "" }, { "name": "cadherin binding", "id": "GO:0045296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045296", "evidence": [ { "database": "UniProtKB", "id": "F1QGH7", "url": "https://www.uniprot.org/uniprotkb/F1QGH7" } ], "pmid": "" }, { "name": "protein phosphatase binding", "id": "GO:0019903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019903", "evidence": [ { "database": "UniProtKB", "id": "F1QGH7", "url": "https://www.uniprot.org/uniprotkb/F1QGH7" } ], "pmid": "" }, { "name": "alpha-catenin binding", "id": "GO:0045294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045294", "evidence": [ { "database": "UniProtKB", "id": "F1QGH7", "url": "https://www.uniprot.org/uniprotkb/F1QGH7" } ], "pmid": "" }, { "name": "nuclear receptor binding", "id": "GO:0016922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016922", "evidence": [ { "database": "UniProtKB", "id": "F1QGH7", "url": "https://www.uniprot.org/uniprotkb/F1QGH7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "F1QGH7", "url": "https://www.uniprot.org/uniprotkb/F1QGH7" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "F1QGH7", "url": "https://www.uniprot.org/uniprotkb/F1QGH7" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "F1QGH7", "url": "https://www.uniprot.org/uniprotkb/F1QGH7" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "F1QGH7", "url": "https://www.uniprot.org/uniprotkb/F1QGH7" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "F1QGH7", "url": "https://www.uniprot.org/uniprotkb/F1QGH7" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "F1QGH7", "url": "https://www.uniprot.org/uniprotkb/F1QGH7" } ], "pmid": "" }, { "name": "intercalated disc", "id": "GO:0014704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014704", "evidence": [ { "database": "UniProtKB", "id": "F1QGH7", "url": "https://www.uniprot.org/uniprotkb/F1QGH7" } ], "pmid": "" }, { "name": "catenin complex", "id": "GO:0016342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016342", "evidence": [ { "database": "UniProtKB", "id": "F1QGH7", "url": "https://www.uniprot.org/uniprotkb/F1QGH7" } ], "pmid": "" }, { "name": "microvillus", "id": "GO:0005902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005902", "evidence": [ { "database": "UniProtKB", "id": "F1QGH7", "url": "https://www.uniprot.org/uniprotkb/F1QGH7" } ], "pmid": "" }, { "name": "zonula adherens", "id": "GO:0005915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005915", "evidence": [ { "database": "UniProtKB", "id": "F1QGH7", "url": "https://www.uniprot.org/uniprotkb/F1QGH7" } ], "pmid": "" } ], 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"https://www.uniprot.org/uniprotkb/O42354" } ], "pmid": "" }, { "name": "negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator", "id": "GO:1902254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902254", "evidence": [ { "database": "UniProtKB", "id": "O42354", "url": "https://www.uniprot.org/uniprotkb/O42354" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "O42354", "url": "https://www.uniprot.org/uniprotkb/O42354" } ], "pmid": "" }, { "name": "pronephric glomerulus morphogenesis", "id": "GO:0035775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035775", "evidence": [ { "database": "UniProtKB", "id": "O42354", "url": "https://www.uniprot.org/uniprotkb/O42354" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { 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"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:0060074", "name": "ductal carcinoma in situ", "description": "A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the 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"https://disease-ontology.org/term/DOID:0080202", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ], "weight": 0.0 }, { "disease_id": "DOID:0080630", "name": "B-lymphoblastic leukemia/lymphoma", "description": "A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow.", "url": "https://disease-ontology.org/term/DOID:0080630", "evidence": [ { "id": "0080630", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080630" } ], "weight": 0.0 }, { "disease_id": "DOID:0081267", "name": "graft-versus-host disease", "description": "An immune system disease that is characterized by recognition by mature donor T cells, that contaminate the allogeneic bone marrow, of the recipient's tissue as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease, and that has_material_basis_in an 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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:10811", "name": "nasal cavity cancer", "description": "A respiratory system cancer that is located_in the nasal cavity.", "url": "https://disease-ontology.org/term/DOID:10811", "evidence": [ { "id": "10811", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10811" } ], "weight": 0.0 }, { "disease_id": "DOID:10964", "name": "cholesteatoma of middle ear", "description": "", "url": "https://disease-ontology.org/term/DOID:10964", "evidence": [ { "id": "10964", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10964" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:1115", "name": "sarcoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm.", "url": "https://disease-ontology.org/term/DOID:1115", "evidence": [ { "id": "1115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1115" } ], "weight": 0.0 }, { 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Normal tension glaucoma has_symptom progressive decreased vision and progressive loss of peripheral vision.", "url": "https://disease-ontology.org/term/DOID:13544", "evidence": [ { "id": "13544", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13544" } ], "weight": 0.0 }, { "disease_id": "DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus.", "url": "https://disease-ontology.org/term/DOID:1380", "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ], "weight": 0.0 }, { "disease_id": "DOID:14566", "name": "disease of cellular proliferation", "description": "A disease that is characterized by abnormally rapid cell division.", "url": "https://disease-ontology.org/term/DOID:14566", "evidence": [ { "id": "14566", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14566" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:1749", "name": "squamous cell carcinoma", "description": "A carcinoma that derives_from squamous epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1749", "evidence": [ { "id": "1749", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1749" } ], 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"https://www.alliancegenome.org/disease/DOID:2513" } ], "weight": 0.0 }, { "disease_id": "DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes.", "url": "https://disease-ontology.org/term/DOID:2531", "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ], "weight": 0.0 }, { "disease_id": "DOID:2626", "name": "choroid plexus papilloma", "description": "", "url": "https://disease-ontology.org/term/DOID:2626", "evidence": [ { "id": "2626", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2626" } ], "weight": 0.0 }, { "disease_id": "DOID:2671", "name": "transitional cell carcinoma", "description": "A carcinoma that derives_from transitional epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2671", "evidence": [ { "id": "2671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2671" } ], "weight": 0.0 }, { "disease_id": "DOID:2729", "name": "dyskeratosis congenita", "description": "A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer.", "url": "https://disease-ontology.org/term/DOID:2729", "evidence": [ { "id": "2729", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2729" } ], "weight": 0.0 }, { "disease_id": "DOID:2870", "name": "endometrial adenocarcinoma", "description": "An endometrial carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:2870", "evidence": [ { "id": "2870", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2870" } ], "weight": 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"id": "3012", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3012" } ], "weight": 0.0 }, { "disease_id": "DOID:3068", "name": "glioblastoma", "description": "A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.", "url": "https://disease-ontology.org/term/DOID:3068", "evidence": [ { "id": "3068", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3068" } ], "weight": 0.0 }, { "disease_id": "DOID:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:3114", "name": "serous cystadenocarcinoma", "description": "A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions.", "url": "https://disease-ontology.org/term/DOID:3114", "evidence": [ { "id": "3114", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3114" } ], "weight": 0.0 }, { "disease_id": "DOID:326", "name": "ischemia", "description": "A vascular disease that is characterized by a restriction in blood supply to tissues.", "url": "https://disease-ontology.org/term/DOID:326", "evidence": [ { "id": "326", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:326" } ], "weight": 0.0 }, { "disease_id": "DOID:3347", "name": "osteosarcoma", "description": "A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin. It usually involves bones and less frequently extraosseous sites. 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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3702" } ], "weight": 0.0 }, { "disease_id": "DOID:3717", "name": "gastric adenocarcinoma", "description": "A stomach carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3717", "evidence": [ { "id": "3717", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3717" } ], "weight": 0.0 }, { "disease_id": "DOID:3744", "name": "cervical squamous cell carcinoma", "description": "A cervix carcinoma that has_material_basis_in squamous cells of the cervix.", "url": "https://disease-ontology.org/term/DOID:3744", "evidence": [ { "id": "3744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3744" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:3969", "name": "papillary thyroid carcinoma", "description": "A differentiated thyroid gland carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer and arises from the follicular cells of the thyroid gland.", "url": "https://disease-ontology.org/term/DOID:3969", "evidence": [ { "id": "3969", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3969" } ], "weight": 0.0 }, { "disease_id": "DOID:4247", "name": "coronary restenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:4247", "evidence": [ { "id": "4247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4247" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4467", "name": "clear cell renal cell carcinoma", "description": "A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope.", "url": "https://disease-ontology.org/term/DOID:4467", "evidence": [ { "id": "4467", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4467" } ], "weight": 0.0 }, { "disease_id": "DOID:4926", "name": "bronchiolo-alveolar adenocarcinoma", "description": "A lung adenocarcinoma characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension.", "url": "https://disease-ontology.org/term/DOID:4926", "evidence": [ { "id": "4926", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4926" } ], "weight": 0.0 }, { "disease_id": "DOID:4971", "name": "myelofibrosis", "description": "A myeloid neoplasm that is located in the bone marrow which results in bone marrow being replaced by fibrous (scar) tissue.", "url": "https://disease-ontology.org/term/DOID:4971", "evidence": [ { "id": "4971", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4971" } ], "weight": 0.0 }, { "disease_id": "DOID:5744", "name": "ovary serous adenocarcinoma", "description": "An ovary adenocarcinoma that derives_from the lining of a cavity that produces a serum-like fluid (a serous cavity).", "url": "https://disease-ontology.org/term/DOID:5744", "evidence": [ { "id": "5744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5744" } ], "weight": 0.0 }, { "disease_id": "DOID:5773", "name": "oral submucous fibrosis", "description": "A mouth disease that is characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues.", "url": "https://disease-ontology.org/term/DOID:5773", "evidence": [ { "id": "5773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5773" } ], "weight": 0.0 }, { "disease_id": "DOID:5940", "name": "malignant peripheral nerve sheath tumor", "description": "", "url": "https://disease-ontology.org/term/DOID:5940", "evidence": [ { "id": "5940", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5940" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:705", "name": "Leber hereditary optic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:705", "evidence": [ { "id": "705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:705" } ], "weight": 0.0 }, { "disease_id": "DOID:7575", "name": "pancreatic intraductal papillary-mucinous neoplasm", "description": "A pancreatic cancer that is characterized as a slow-growing epithelial neoplasm with ductal differentiation that arises from the exocrine pancreas and grows mostly within the pancreatic ducts.", "url": "https://disease-ontology.org/term/DOID:7575", "evidence": [ { "id": "7575", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7575" } ], "weight": 0.0 }, { "disease_id": "DOID:7614", "name": "meninges sarcoma", "description": "", "url": "https://disease-ontology.org/term/DOID:7614", "evidence": [ { "id": "7614", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7614" } ], "weight": 0.0 }, { "disease_id": "DOID:8725", "name": "vascular dementia", "description": "A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain.", "url": "https://disease-ontology.org/term/DOID:8725", "evidence": [ { "id": "8725", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8725" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "weight": 0.0 }, { "disease_id": "DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID:9655", "name": "oral mucosa leukoplakia", "description": "A mouth disease that is characterized by a white patch or plaque that develops in the oral cavity and is strongly associated with smoking.", "url": "https://disease-ontology.org/term/DOID:9655", "evidence": [ { "id": "9655", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9655" } ], "weight": 0.0 } ], "biological_process": [ { "name": "erythrocyte maturation", "id": "GO:0043249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043249", "evidence": [ { "database": "UniProtKB", "id": "P79734", "url": "https://www.uniprot.org/uniprotkb/P79734" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P79734", "url": "https://www.uniprot.org/uniprotkb/P79734" } ], "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": "P79734", "url": "https://www.uniprot.org/uniprotkb/P79734" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "P79734", "url": "https://www.uniprot.org/uniprotkb/P79734" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "P79734", "url": "https://www.uniprot.org/uniprotkb/P79734" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P79734", "url": "https://www.uniprot.org/uniprotkb/P79734" } ], "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": "P79734", "url": "https://www.uniprot.org/uniprotkb/P79734" } ], "pmid": "" }, { "name": "protein tetramerization", "id": "GO:0051262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051262", "evidence": [ { "database": "UniProtKB", "id": "P79734", "url": "https://www.uniprot.org/uniprotkb/P79734" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "P79734", "url": "https://www.uniprot.org/uniprotkb/P79734" } ], "pmid": "" }, { "name": "transforming growth factor beta receptor signaling pathway", "id": "GO:0007179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007179", "evidence": [ { "database": "UniProtKB", "id": "P79734", "url": "https://www.uniprot.org/uniprotkb/P79734" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "P79734", "url": "https://www.uniprot.org/uniprotkb/P79734" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "P79734", "url": "https://www.uniprot.org/uniprotkb/P79734" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator", "id": "GO:0042771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042771", "evidence": [ { "database": "UniProtKB", "id": "P79734", "url": "https://www.uniprot.org/uniprotkb/P79734" } ], "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": "P79734", "url": "https://www.uniprot.org/uniprotkb/P79734" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "P79734", "url": "https://www.uniprot.org/uniprotkb/P79734" } ], "pmid": "" }, { "name": "regulation of protein stability", "id": "GO:0031647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031647", "evidence": [ { "database": "UniProtKB", "id": "P79734", "url": "https://www.uniprot.org/uniprotkb/P79734" } ], "pmid": "" }, { "name": "response to UV", "id": "GO:0009411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009411", "evidence": [ { "database": "UniProtKB", "id": "P79734", "url": "https://www.uniprot.org/uniprotkb/P79734" } ], "pmid": "" }, { "name": "negative regulation of angiogenesis", "id": "GO:0016525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016525", "evidence": [ { "database": "UniProtKB", "id": "P79734", "url": "https://www.uniprot.org/uniprotkb/P79734" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "P79734", "url": "https://www.uniprot.org/uniprotkb/P79734" } ], "pmid": "" }, { "name": "positive regulation of neuron apoptotic process", "id": "GO:0043525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043525", "evidence": [ { "database": "UniProtKB", "id": "P79734", "url": "https://www.uniprot.org/uniprotkb/P79734" } ], "pmid": "" }, { "name": "positive regulation of cell cycle", "id": "GO:0045787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045787", "evidence": [ { "database": "UniProtKB", "id": "P79734", "url": "https://www.uniprot.org/uniprotkb/P79734" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway", "id": "GO:0097193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097193", "evidence": [ { "database": "UniProtKB", "id": "P79734", "url": "https://www.uniprot.org/uniprotkb/P79734" } ], "pmid": "" }, { "name": "negative regulation of cell cycle", "id": "GO:0045786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045786", "evidence": [ { "database": "UniProtKB", "id": "P79734", "url": "https://www.uniprot.org/uniprotkb/P79734" } ], "pmid": "" }, { "name": "response to methylmercury", "id": "GO:0051597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051597", "evidence": [ { "database": "UniProtKB", "id": "P79734", "url": "https://www.uniprot.org/uniprotkb/P79734" } ], "pmid": "" }, { "name": "cellular senescence", "id": "GO:0090398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090398", "evidence": [ { "database": "UniProtKB", "id": "P79734", "url": "https://www.uniprot.org/uniprotkb/P79734" } ], "pmid": "" }, { "name": "response to X-ray", "id": "GO:0010165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010165", "evidence": [ { "database": "UniProtKB", "id": "P79734", "url": "https://www.uniprot.org/uniprotkb/P79734" } ], "pmid": "" }, { "name": "regulation of intrinsic apoptotic signaling pathway by p53 class mediator", "id": "GO:1902253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902253", "evidence": [ { "database": "UniProtKB", "id": "P79734", "url": "https://www.uniprot.org/uniprotkb/P79734" } ], "pmid": "" }, { "name": "erythrocyte development", "id": "GO:0048821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048821", "evidence": [ { "database": "UniProtKB", "id": "P79734", "url": "https://www.uniprot.org/uniprotkb/P79734" } ], "pmid": "" }, { "name": "DNA damage response, signal transduction by p53 class mediator", "id": "GO:0030330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030330", "evidence": [ { "database": "UniProtKB", "id": "P79734", "url": "https://www.uniprot.org/uniprotkb/P79734" } ], "pmid": "" }, { "name": "apoptotic process involved in blood vessel morphogenesis", "id": "GO:1902262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902262", "evidence": [ { "database": "UniProtKB", "id": "P79734", "url": "https://www.uniprot.org/uniprotkb/P79734" } ], "pmid": "" }, { "name": "DNA damage checkpoint signaling", "id": "GO:0000077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000077", "evidence": [ { "database": "UniProtKB", "id": "P79734", "url": "https://www.uniprot.org/uniprotkb/P79734" } ], "pmid": "" }, { "name": "negative regulation of cell division", "id": "GO:0051782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051782", "evidence": [ { "database": "UniProtKB", "id": "P79734", "url": "https://www.uniprot.org/uniprotkb/P79734" } ], "pmid": "" }, { "name": "definitive hemopoiesis", "id": "GO:0060216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060216", "evidence": [ { "database": "UniProtKB", "id": "P79734", "url": "https://www.uniprot.org/uniprotkb/P79734" } ], "pmid": "" }, { "name": "intestinal epithelial structure maintenance", "id": "GO:0060729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060729", "evidence": [ { "database": "UniProtKB", "id": "P79734", "url": "https://www.uniprot.org/uniprotkb/P79734" } ], "pmid": "" }, { "name": "hematopoietic stem cell homeostasis", "id": "GO:0061484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061484", "evidence": [ { "database": "UniProtKB", "id": "P79734", "url": "https://www.uniprot.org/uniprotkb/P79734" } ], "pmid": "" }, { "name": "regulation of double-strand break repair", "id": "GO:2000779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000779", "evidence": [ { "database": "UniProtKB", "id": "P79734", "url": "https://www.uniprot.org/uniprotkb/P79734" } ], "pmid": "" }, { "name": "epidermis morphogenesis", "id": "GO:0048730", "url": 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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 } ], "biological_process": [ { "name": "pancreatic A cell development", "id": "GO:0003322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003322", "evidence": [ { "database": "UniProtKB", "id": "P53405", "url": 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"https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:0060074", "name": "ductal carcinoma in situ", "description": "A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:0060074", "evidence": [ { "id": "0060074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060074" } ], "weight": 0.0 }, { "disease_id": "DOID:0060108", "name": "brain glioma", "description": "A brain cancer that has_material_basis_in glial cells.", "url": "https://disease-ontology.org/term/DOID:0060108", "evidence": [ { "id": "0060108", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060108" } ], "weight": 0.0 }, { "disease_id": "DOID:0060181", "name": "ischemic colitis", "description": "A colitis caused_by inadequate blood supply to the colon.", "url": "https://disease-ontology.org/term/DOID:0060181", "evidence": [ { "id": "0060181", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060181" } ], "weight": 0.0 }, { "disease_id": "DOID:0060193", "name": "amyotrophic lateral sclerosis type 1", "description": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SOD1 gene on chromosome 21. The most common type of familial ALS.", "url": "https://disease-ontology.org/term/DOID:0060193", "evidence": [ { "id": "0060193", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060193" } ], "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:0060643", "name": "primary sclerosing cholangitis", "description": "A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension.", "url": "https://disease-ontology.org/term/DOID:0060643", "evidence": [ { "id": "0060643", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060643" } ], "weight": 0.0 }, { "disease_id": "DOID:0060688", "name": "arteriovenous malformations of the brain", "description": "A central nervous system benign neoplasm that derives_from endothelial cells and that is located_in the brain.", "url": "https://disease-ontology.org/term/DOID:0060688", "evidence": [ { "id": "0060688", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060688" } ], "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: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:0081267", "name": "graft-versus-host disease", "description": "An immune system disease that is characterized by recognition by mature donor T cells, that contaminate the allogeneic bone marrow, of the recipient's tissue as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease, and that has_material_basis_in an associated with variation in the interleukin-10 gene (IL10) on chromosome 1q32.", "url": "https://disease-ontology.org/term/DOID:0081267", "evidence": [ { "id": "0081267", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081267" } ], "weight": 0.0 }, { "disease_id": "DOID:0111252", "name": "vestibular schwannomatosis", "description": "A schwannomatosis characterized by bilateral vestibular schwannomas or a combination of unilateral vestibular schwannomas, non-vestibular schwannomas, meningiomas, ependymomas, and specific eye abnormalities that has_material_basis_in heterozygous mutation in the NF2 gene on chromosome 22q12.2. Eye abnormalities include juvenile subcapsular or cortical cataract, epiretinal membrane in a person less than 40 years old, and retinal hamartoma. This disease has been revised by international consensus. It was previously referred to as neurofibromatosis 2.", "url": "https://disease-ontology.org/term/DOID:0111252", "evidence": [ { "id": "0111252", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111252" } ], "weight": 0.0 }, { "disease_id": "DOID:0111253", "name": "neurofibromatosis 1", "description": "A neurofibromatosis characterized by multiple cafe-au-lait macules, skin fold freckling, neurofibromas, optic gliomas, Lisch nodules or choroidal abnormalities in the eye, or a specific bone abnormality that has_material_basis_in the NF1 gene on chromosome 17q11.2. Bone abnormalities include a distinctive osseous lesion such as sphenoid dysplasia, anterolateral bowing of the tibia, or pseudarthrosis of a long bone.", "url": "https://disease-ontology.org/term/DOID:0111253", "evidence": [ { "id": "0111253", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111253" } ], "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:10584", "name": "retinitis pigmentosa", "description": "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.", "url": "https://disease-ontology.org/term/DOID:10584", "evidence": [ { "id": "10584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10584" } ], "weight": 0.0 }, { "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: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:1094", "name": "attention deficit hyperactivity disorder", "description": "A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age.", "url": "https://disease-ontology.org/term/DOID:1094", "evidence": [ { "id": "1094", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1094" } ], "weight": 0.0 }, { "disease_id": "DOID:10941", "name": "intracranial aneurysm", "description": "", "url": "https://disease-ontology.org/term/DOID:10941", "evidence": [ { "id": "10941", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10941" } ], "weight": 0.0 }, { "disease_id": "DOID:10964", "name": "cholesteatoma of middle ear", "description": "", "url": "https://disease-ontology.org/term/DOID:10964", "evidence": [ { "id": "10964", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10964" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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: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: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:12510", "name": "retinal ischemia", "description": "An ischemia that is characterized by restriction in blood supply to the retina.", "url": "https://disease-ontology.org/term/DOID:12510", "evidence": [ { "id": "12510", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12510" } ], "weight": 0.0 }, { "disease_id": "DOID:12689", "name": "acoustic neuroma", "description": "", "url": "https://disease-ontology.org/term/DOID:12689", "evidence": [ { "id": "12689", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12689" } ], "weight": 0.0 }, { "disease_id": "DOID:12716", "name": "newborn respiratory distress syndrome", "description": "A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts.", "url": "https://disease-ontology.org/term/DOID:12716", "evidence": [ { "id": "12716", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12716" } ], "weight": 0.0 }, { "disease_id": "DOID: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:13207", "name": "proliferative diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:13207", "evidence": [ { "id": "13207", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13207" } ], "weight": 0.0 }, { "disease_id": "DOID: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:13378", "name": "Kawasaki disease", "description": "A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels and that symptoms of fever, congestion of ocular conjunctivae, reddening of lips, reddening of oral cavity, protuberance of tongue papillae and edema of extremities.", "url": "https://disease-ontology.org/term/DOID:13378", "evidence": [ { "id": "13378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13378" } ], "weight": 0.0 }, { "disease_id": "DOID:13812", "name": "adhesions of uterus", "description": "A uterine disease that is characterized by the presence of scar tissue which attaches the uterus to another structure.", "url": "https://disease-ontology.org/term/DOID:13812", "evidence": [ { "id": "13812", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13812" } ], "weight": 0.0 }, { "disease_id": "DOID:13949", "name": "interstitial cystitis", "description": "", "url": "https://disease-ontology.org/term/DOID:13949", "evidence": [ { "id": "13949", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13949" } ], "weight": 0.0 }, { "disease_id": "DOID:14256", "name": "adult-onset Still's disease", "description": "A rheumatoid arthritis that is characterized by high fevers, rash, sore throat and joint pain.", "url": "https://disease-ontology.org/term/DOID:14256", "evidence": [ { "id": "14256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14256" } ], "weight": 0.0 }, { "disease_id": "DOID:1520", "name": "colon carcinoma", "description": "A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1520", "evidence": [ { "id": "1520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1520" } ], "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: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:1686", "name": "glaucoma", "description": "An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function.", "url": "https://disease-ontology.org/term/DOID:1686", "evidence": [ { "id": "1686", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1686" } ], "weight": 0.0 }, { "disease_id": "DOID:1687", "name": "neovascular glaucoma", "description": "A glaucoma characterized by narrowing of the anterior chamber angle secondary to neovascularization along the iris and iridocorneal angle such that the aqueous fluid outflow is blocked and intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Neovascular glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Neovascular glaucoma can be related to abnormal angiogenesis with ischemic retinal diseases, inflammation, diabetes mellitus, intraocular malignancy, and autoimmune diseases.", "url": "https://disease-ontology.org/term/DOID:1687", "evidence": [ { "id": "1687", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1687" } ], "weight": 0.0 }, { "disease_id": "DOID:1724", "name": "duodenal ulcer", "description": "", "url": "https://disease-ontology.org/term/DOID:1724", "evidence": [ { "id": "1724", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1724" } ], "weight": 0.0 }, { "disease_id": "DOID:1727", "name": "retinal vein occlusion", "description": "", "url": "https://disease-ontology.org/term/DOID:1727", "evidence": [ { "id": "1727", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1727" } ], "weight": 0.0 }, { "disease_id": "DOID:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.", "url": "https://disease-ontology.org/term/DOID:1909", "evidence": [ { "id": "1909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ], "weight": 0.0 }, { "disease_id": "DOID:2048", "name": "autoimmune hepatitis", "description": "An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells.", "url": "https://disease-ontology.org/term/DOID:2048", "evidence": [ { "id": "2048", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2048" } ], "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:2559", "name": "opiate dependence", "description": "A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2559", "evidence": [ { "id": "2559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2559" } ], "weight": 0.0 }, { "disease_id": "DOID:2596", "name": "larynx cancer", "description": "A respiratory system cancer that is located_in the larynx.", "url": "https://disease-ontology.org/term/DOID:2596", "evidence": [ { "id": "2596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2596" } ], "weight": 0.0 }, { "disease_id": "DOID:2738", "name": "pseudoxanthoma elasticum", "description": "A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system.", "url": "https://disease-ontology.org/term/DOID:2738", "evidence": [ { "id": "2738", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2738" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:2999", "name": "granulosa cell tumor", "description": "A sex cord-gonadal stromal tumor that has_material_basis_in granulosa cells and arises from the sex cord stroma.", "url": "https://disease-ontology.org/term/DOID:2999", "evidence": [ { "id": "2999", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2999" } ], "weight": 0.0 }, { "disease_id": "DOID:3042", "name": "allergic contact dermatitis", "description": "A contact dermatitis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign.", "url": "https://disease-ontology.org/term/DOID:3042", "evidence": [ { "id": "3042", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3042" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3087", "name": "gingivitis", "description": "", "url": "https://disease-ontology.org/term/DOID:3087", "evidence": [ { "id": "3087", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3087" } ], "weight": 0.0 }, { "disease_id": "DOID:3179", "name": "inverted papilloma", "description": "", "url": "https://disease-ontology.org/term/DOID:3179", "evidence": [ { "id": "3179", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3179" } ], "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: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:3512", "name": "neurofibrosarcoma", "description": "", "url": "https://disease-ontology.org/term/DOID:3512", "evidence": [ { "id": "3512", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3512" } ], "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:3827", "name": "congenital diaphragmatic hernia", "description": "A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs.", "url": "https://disease-ontology.org/term/DOID:3827", "evidence": [ { "id": "3827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3827" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:4440", "name": "seminoma", "description": "A germinoma that has_material_basis_in cells that make sperm and eggs.", "url": "https://disease-ontology.org/term/DOID:4440", "evidence": [ { "id": "4440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4440" } ], "weight": 0.0 }, { "disease_id": "DOID:4449", "name": "macular retinal edema", "description": "", "url": "https://disease-ontology.org/term/DOID:4449", "evidence": [ { "id": "4449", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4449" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4483", "name": "rhinitis", "description": "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.", "url": "https://disease-ontology.org/term/DOID:4483", "evidence": [ { "id": "4483", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4483" } ], "weight": 0.0 }, { "disease_id": "DOID:4724", "name": "brain edema", "description": "A brain disease that is characterized by excess accumulation of fluid in the intracellular and/or extracellular spaces of the brain, has_symptom nausea, has_symptom vomiting, has_symptom blurred vision, has_symptom seizure, has_symptom coma.", "url": "https://disease-ontology.org/term/DOID:4724", "evidence": [ { "id": "4724", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4724" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5176", "name": "renal Wilms' tumor", "description": "", "url": "https://disease-ontology.org/term/DOID:5176", "evidence": [ { "id": "5176", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5176" } ], "weight": 0.0 }, { "disease_id": "DOID:5425", "name": "ovarian hyperstimulation syndrome", "description": "An ovarian disease that is characterized by cystic enlargement of the ovaries and a fluid shift from the intravascular to the third space and has_symptom abdominal pain, has_symptom nausea and has_symptom vomiting. This disease is an iatrogenic complication of assisted reproduction technology.", "url": "https://disease-ontology.org/term/DOID:5425", "evidence": [ { "id": "5425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5425" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:6039", "name": "uveal melanoma", "description": "A uveal cancer that has_material_basis_in uvea pigment cells.", "url": "https://disease-ontology.org/term/DOID:6039", "evidence": [ { "id": "6039", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6039" } ], "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:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:7736", "name": "retinal telangiectasia", "description": "", "url": "https://disease-ontology.org/term/DOID:7736", "evidence": [ { "id": "7736", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7736" } ], "weight": 0.0 }, { "disease_id": "DOID:841", "name": "extrinsic allergic alveolitis", "description": "An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss.", "url": "https://disease-ontology.org/term/DOID:841", "evidence": [ { "id": "841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:841" } ], "weight": 0.0 }, { "disease_id": "DOID:8505", "name": "dermatitis herpetiformis", "description": "", "url": "https://disease-ontology.org/term/DOID:8505", "evidence": [ { "id": "8505", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8505" } ], "weight": 0.0 }, { "disease_id": "DOID:8506", "name": "bullous pemphigoid", "description": "A pemphigoid that is characterized by large blisters.", "url": "https://disease-ontology.org/term/DOID:8506", "evidence": [ { "id": "8506", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8506" } ], "weight": 0.0 }, { "disease_id": "DOID:8544", "name": "chronic fatigue syndrome", "description": "A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions.", "url": "https://disease-ontology.org/term/DOID:8544", "evidence": [ { "id": "8544", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8544" } ], "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:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:869", "name": "cholesteatoma", "description": "A keratosis that is characterized by keratinizing squamous epithelium located in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction.", "url": "https://disease-ontology.org/term/DOID:869", "evidence": [ { "id": "869", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:869" } ], "weight": 0.0 }, { "disease_id": "DOID:8717", "name": "decubitus ulcer", "description": "A chronic ulcer of skin where the ulcer is an ulceration of tissue deprived of adequate blood supply by prolonged pressure.", "url": "https://disease-ontology.org/term/DOID:8717", "evidence": [ { "id": "8717", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8717" } ], "weight": 0.0 }, { "disease_id": "DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8991", "name": "cervix uteri carcinoma in situ", "description": "An uterus carcinoma in situ that is located_in the uterine cervix.", "url": "https://disease-ontology.org/term/DOID:8991", "evidence": [ { "id": "8991", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8991" } ], "weight": 0.0 }, { "disease_id": "DOID:900", "name": "hepatopulmonary syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:900", "evidence": [ { "id": "900", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:900" } ], "weight": 0.0 }, { "disease_id": "DOID:9007", "name": "sudden infant death syndrome", "description": "A syndrome that is characterized by the sudden death of an infant that is not predicted by medical history and remains unexplained after a thorough forensic autopsy and detailed death scene investigation.", "url": "https://disease-ontology.org/term/DOID:9007", "evidence": [ { "id": "9007", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9007" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9743", "name": "diabetic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:9743", "evidence": [ { "id": "9743", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9743" } ], "weight": 0.0 }, { "disease_id": "DOID:9810", "name": "polyarteritis nodosa", "description": "A vasculitis that is characterized by necrotizing inflammation of medium or small arteries.", "url": "https://disease-ontology.org/term/DOID:9810", "evidence": [ { "id": "9810", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9810" } ], "weight": 0.0 } ], "biological_process": [ { "name": "thyroid gland development", "id": "GO:0030878", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030878", "evidence": [ { "database": "UniProtKB", "id": "O73682", "url": "https://www.uniprot.org/uniprotkb/O73682" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "O73682", "url": "https://www.uniprot.org/uniprotkb/O73682" } ], "pmid": "" }, { "name": "vasculogenesis", "id": "GO:0001570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001570", "evidence": [ { "database": "UniProtKB", "id": "O73682", "url": "https://www.uniprot.org/uniprotkb/O73682" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "O73682", "url": "https://www.uniprot.org/uniprotkb/O73682" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "O73682", "url": "https://www.uniprot.org/uniprotkb/O73682" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", 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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:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. 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"https://www.uniprot.org/uniprotkb/Q502K2" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q502K2", "url": "https://www.uniprot.org/uniprotkb/Q502K2" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q502K2", "url": "https://www.uniprot.org/uniprotkb/Q502K2" } ], "pmid": "" }, { "name": "nucleic acid binding", "id": "GO:0003676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "evidence": [ { "database": "UniProtKB", "id": "Q502K2", "url": "https://www.uniprot.org/uniprotkb/Q502K2" } ], "pmid": "" }, { "name": "single-stranded DNA binding", "id": "GO:0003697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003697", "evidence": [ { "database": "UniProtKB", "id": "Q502K2", "url": "https://www.uniprot.org/uniprotkb/Q502K2" } ], "pmid": "" }, { "name": "dGTPase activity", "id": "GO:0008832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008832", "evidence": [ { "database": "UniProtKB", "id": "Q502K2", "url": "https://www.uniprot.org/uniprotkb/Q502K2" } ], "pmid": "" }, { "name": "triphosphoric monoester hydrolase activity", "id": "GO:0016793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016793", "evidence": [ { "database": "UniProtKB", "id": "Q502K2", "url": "https://www.uniprot.org/uniprotkb/Q502K2" } ], "pmid": "" }, { "name": "dGTP binding", "id": "GO:0032567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032567", "evidence": [ { "database": "UniProtKB", "id": "Q502K2", "url": "https://www.uniprot.org/uniprotkb/Q502K2" } ], "pmid": "" }, { "name": "deoxynucleoside triphosphate hydrolase activity", "id": "GO:0106375", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106375", "evidence": [ { "database": "UniProtKB", "id": "Q502K2", "url": "https://www.uniprot.org/uniprotkb/Q502K2" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q502K2", "url": "https://www.uniprot.org/uniprotkb/Q502K2" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q502K2", "url": "https://www.uniprot.org/uniprotkb/Q502K2" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q502K2", "url": "https://www.uniprot.org/uniprotkb/Q502K2" } ], "pmid": "" }, { "name": "site of double-strand break", "id": "GO:0035861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035861", "evidence": [ { "database": "UniProtKB", "id": "Q502K2", "url": "https://www.uniprot.org/uniprotkb/Q502K2" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "Q502K2", "url": "https://www.uniprot.org/uniprotkb/Q502K2" } ], "pmid": "" } ], "biological_process": [ { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q502K2", "url": "https://www.uniprot.org/uniprotkb/Q502K2" } ], "pmid": "" }, { "name": "protein homotetramerization", "id": "GO:0051289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051289", "evidence": [ { "database": "UniProtKB", "id": "Q502K2", "url": "https://www.uniprot.org/uniprotkb/Q502K2" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "Q502K2", "url": "https://www.uniprot.org/uniprotkb/Q502K2" } ], "pmid": "" }, { "name": "regulation of cholesterol biosynthetic process", "id": "GO:0045540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045540", "evidence": [ { "database": "UniProtKB", "id": "Q502K2", "url": "https://www.uniprot.org/uniprotkb/Q502K2" } ], "pmid": "" }, { "name": "dGTP catabolic process", "id": "GO:0006203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006203", "evidence": [ { "database": "UniProtKB", "id": "Q502K2", "url": "https://www.uniprot.org/uniprotkb/Q502K2" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q502K2", "url": "https://www.uniprot.org/uniprotkb/Q502K2" } ], "pmid": "" }, { "name": "dATP catabolic process", "id": "GO:0046061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046061", "evidence": [ { "database": "UniProtKB", "id": "Q502K2", "url": "https://www.uniprot.org/uniprotkb/Q502K2" } ], "pmid": "" }, { "name": "double-strand break repair via homologous recombination", "id": "GO:0000724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000724", "evidence": [ { "database": "UniProtKB", "id": "Q502K2", "url": "https://www.uniprot.org/uniprotkb/Q502K2" } ], "pmid": "" }, { "name": "swimming behavior", "id": "GO:0036269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036269", "evidence": [ { "database": "UniProtKB", "id": "Q502K2", "url": "https://www.uniprot.org/uniprotkb/Q502K2" } ], "pmid": "" }, { "name": "somatic hypermutation of immunoglobulin genes", "id": "GO:0016446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016446", "evidence": [ { "database": "UniProtKB", "id": "Q502K2", "url": "https://www.uniprot.org/uniprotkb/Q502K2" } ], "pmid": "" }, { "name": "regulation of innate immune response", "id": "GO:0045088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045088", "evidence": [ { "database": "UniProtKB", "id": "Q502K2", "url": "https://www.uniprot.org/uniprotkb/Q502K2" } ], "pmid": "" }, { "name": "negative regulation of type I interferon-mediated signaling pathway", "id": "GO:0060339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060339", "evidence": [ { "database": "UniProtKB", "id": "Q502K2", "url": "https://www.uniprot.org/uniprotkb/Q502K2" } ], "pmid": "" }, { "name": "deoxyribonucleotide catabolic process", "id": "GO:0009264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009264", "evidence": [ { "database": "UniProtKB", "id": "Q502K2", "url": "https://www.uniprot.org/uniprotkb/Q502K2" } ], "pmid": "" }, { "name": "DNA strand resection involved in replication fork processing", "id": "GO:0110025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110025", "evidence": [ { "database": "UniProtKB", "id": "Q502K2", "url": "https://www.uniprot.org/uniprotkb/Q502K2" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "Q502K2", "url": "https://www.uniprot.org/uniprotkb/Q502K2" } ], "pmid": "" }, { "name": "DNA replication", "id": "GO:0006260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006260", "evidence": [ { "database": "UniProtKB", "id": "Q502K2", "url": "https://www.uniprot.org/uniprotkb/Q502K2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "Q5TZ18-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q5TZ18", "url": "https://www.uniprot.org/uniprotkb/Q5TZ18" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 2269, "chemical_mass": 242554.0, "gene_names": "nav3;cb419;nav3;si:dkeyp-60g2.1;wu:fa05f06", "protein_name": "Neuron navigator 3", "disease": [ { "disease_id": "DOID:0070338", "name": "cerebellar hypoplasia", "description": "A cerebellar disease that is characterized by a cerebellum that is smaller than usual or not completely developed.", "url": "https://disease-ontology.org/term/DOID:0070338", "evidence": [ { "id": "0070338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070338" } ], "weight": 0.0 }, { "disease_id": "DOID:2559", "name": "opiate dependence", "description": "A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2559", "evidence": [ { "id": "2559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2559" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q5TZ18", "url": "https://www.uniprot.org/uniprotkb/Q5TZ18" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q5TZ18", "url": "https://www.uniprot.org/uniprotkb/Q5TZ18" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q5TZ18", "url": "https://www.uniprot.org/uniprotkb/Q5TZ18" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q5TZ18", "url": "https://www.uniprot.org/uniprotkb/Q5TZ18" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q5TZ18", "url": "https://www.uniprot.org/uniprotkb/Q5TZ18" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "Q5TZ18", "url": "https://www.uniprot.org/uniprotkb/Q5TZ18" } ], "pmid": "" }, { "name": "filopodium", "id": "GO:0030175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030175", "evidence": [ { "database": "UniProtKB", "id": "Q5TZ18", "url": "https://www.uniprot.org/uniprotkb/Q5TZ18" } ], "pmid": "" }, { "name": "nuclear outer membrane", "id": "GO:0005640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005640", "evidence": [ { "database": "UniProtKB", "id": "Q5TZ18", "url": "https://www.uniprot.org/uniprotkb/Q5TZ18" } ], "pmid": "" } ], "biological_process": [ { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q5TZ18", "url": "https://www.uniprot.org/uniprotkb/Q5TZ18" } ], "pmid": "" }, { "name": "neurogenesis", "id": "GO:0022008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022008", "evidence": [ { "database": "UniProtKB", "id": "Q5TZ18", "url": "https://www.uniprot.org/uniprotkb/Q5TZ18" } ], "pmid": "" }, { "name": "anatomical structure morphogenesis", "id": "GO:0009653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009653", "evidence": [ { "database": "UniProtKB", "id": "Q5TZ18", "url": "https://www.uniprot.org/uniprotkb/Q5TZ18" } ], "pmid": "" }, { "name": "pancreas development", "id": "GO:0031016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031016", "evidence": [ { "database": "UniProtKB", "id": "Q5TZ18", "url": "https://www.uniprot.org/uniprotkb/Q5TZ18" } ], "pmid": "" }, { "name": "liver morphogenesis", "id": "GO:0072576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072576", "evidence": [ { "database": "UniProtKB", "id": "Q5TZ18", "url": "https://www.uniprot.org/uniprotkb/Q5TZ18" } ], "pmid": "" }, { "name": "heart formation", "id": "GO:0060914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060914", "evidence": [ { "database": "UniProtKB", "id": "Q5TZ18", "url": "https://www.uniprot.org/uniprotkb/Q5TZ18" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q5TZ18-1", "start_pos": "1770", "end_pos": "1770", "site_lbl": "Thr1770", "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": 1770, "start_aa": "Thr", "end_pos": 1770, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1770", "evidence": [ { "id": "", "database": "GlyGen", "url": "https://data.glygen.org/" } ] } ] }, { "uniprot_canonical_ac": "Q5TZ18-1", "start_pos": "298", "end_pos": "298", "site_lbl": "Thr298", "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": "", 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"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": 331, "start_aa": "Thr", "end_pos": 331, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr331", "evidence": [ { "id": "", "database": "GlyGen", "url": "https://data.glygen.org/" } ] } ] }, { "uniprot_canonical_ac": "Q5TZ18-1", "start_pos": "399", "end_pos": "399", "site_lbl": "Thr399", "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": 399, "start_aa": "Thr", "end_pos": 399, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr399", "evidence": [ { "id": "", "database": "GlyGen", "url": "https://data.glygen.org/" } ] } ] } ], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "Q5RHB5-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q5RHB5", "url": "https://www.uniprot.org/uniprotkb/Q5RHB5" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 1447, "chemical_mass": 161888.0, "gene_names": "irag2;lrmp;fi05h08;irag2;lrmp;si:dkey-172o10.2;si:dkey-172o10.3;si:dkey-172o10.4;wu:fi05h08", "protein_name": "Inositol 1,4,5-triphosphate receptor associated 2", "disease": [], "biological_process": [ { "name": "positive regulation of chromosome segregation", "id": "GO:0051984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051984", "evidence": [ { "database": "UniProtKB", "id": "Q5RHB5", "url": 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"" } ], "cellular_component": [ { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q5RHB5", "url": "https://www.uniprot.org/uniprotkb/Q5RHB5" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q5RHB5", "url": "https://www.uniprot.org/uniprotkb/Q5RHB5" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q5RHB5", "url": "https://www.uniprot.org/uniprotkb/Q5RHB5" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q5RHB5", "url": "https://www.uniprot.org/uniprotkb/Q5RHB5" } ], "pmid": "" }, { "name": "mitotic spindle pole", "id": 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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": "Q4TVV3", "url": "https://www.uniprot.org/uniprotkb/Q4TVV3" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q4TVV3", "url": "https://www.uniprot.org/uniprotkb/Q4TVV3" } ], "pmid": "" }, { "name": "Cajal body", "id": "GO:0015030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015030", "evidence": [ { "database": "UniProtKB", "id": "Q4TVV3", "url": "https://www.uniprot.org/uniprotkb/Q4TVV3" } ], "pmid": "" }, { "name": "U2-type spliceosomal complex", "id": "GO:0005684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005684", "evidence": [ { "database": "UniProtKB", "id": "Q4TVV3", "url": "https://www.uniprot.org/uniprotkb/Q4TVV3" } ], "pmid": "" }, { "name": "spliceosomal complex", "id": 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"description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.", "url": "https://disease-ontology.org/term/DOID:1909", "evidence": [ { "id": "1909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2696", "name": "Leydig cell tumor", "description": "A sex cord-gonadal stromal tumor that secretes testosterone characterized by excessive proliferation of Leydig cells located_in ovary or testicle.", "url": "https://disease-ontology.org/term/DOID:2696", "evidence": [ { "id": "2696", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2696" } ], "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:3319", "name": "lymphangioleiomyomatosis", "description": "A lung disease that is characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas.", "url": "https://disease-ontology.org/term/DOID:3319", "evidence": [ { "id": "3319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3319" } ], "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:3459", "name": "breast carcinoma", "description": "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3459", "evidence": [ { "id": "3459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3459" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5223", "name": "infertility", "description": "", "url": "https://disease-ontology.org/term/DOID:5223", "evidence": [ { "id": "5223", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5223" } ], "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:6364", "name": "migraine", "description": "A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing.", "url": "https://disease-ontology.org/term/DOID:6364", "evidence": [ { "id": "6364", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6364" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8029", "name": "sporadic breast cancer", "description": "A breast carcinoma that occurs in people who do not have a family history of that cancer or an inherited change in their DNA that would increase their risk for that cancer.", "url": "https://disease-ontology.org/term/DOID:8029", "evidence": [ { "id": "8029", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8029" } ], "weight": 0.0 }, { "disease_id": "DOID:8283", "name": "peritonitis", "description": "A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output.", "url": "https://disease-ontology.org/term/DOID:8283", "evidence": [ { "id": "8283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8283" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8634", "name": "prostate carcinoma in situ", "description": "An in situ carcinoma that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:8634", "evidence": [ { "id": "8634", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8634" } ], "weight": 0.0 }, { "disease_id": "DOID:8719", "name": "in situ carcinoma", "description": "A carcinoma that is an early development defined by the absence of invasion of surrounding tissues.", "url": "https://disease-ontology.org/term/DOID:8719", "evidence": [ { "id": "8719", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8719" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "estrogen response element binding", "id": "GO:0034056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034056", "evidence": [ { "database": "UniProtKB", "id": "P57717", "url": "https://www.uniprot.org/uniprotkb/P57717" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P57717", "url": "https://www.uniprot.org/uniprotkb/P57717" } ], "pmid": "" }, { "name": "nuclear receptor activity", "id": "GO:0004879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004879", "evidence": [ { "database": "UniProtKB", "id": "P57717", "url": "https://www.uniprot.org/uniprotkb/P57717" } ], "pmid": "" }, { "name": "steroid hormone binding", "id": "GO:1990239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990239", "evidence": [ { "database": "UniProtKB", "id": "P57717", "url": "https://www.uniprot.org/uniprotkb/P57717" } ], "pmid": "" }, { "name": "nuclear estrogen receptor activity", "id": "GO:0030284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030284", "evidence": [ { "database": "UniProtKB", "id": "P57717", "url": "https://www.uniprot.org/uniprotkb/P57717" } ], "pmid": "" }, { "name": "estradiol binding", "id": "GO:1903924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903924", "evidence": [ { "database": "UniProtKB", "id": "P57717", "url": "https://www.uniprot.org/uniprotkb/P57717" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "P57717", "url": "https://www.uniprot.org/uniprotkb/P57717" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P57717", "url": "https://www.uniprot.org/uniprotkb/P57717" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P57717", "url": "https://www.uniprot.org/uniprotkb/P57717" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "P57717", "url": "https://www.uniprot.org/uniprotkb/P57717" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P57717", "url": "https://www.uniprot.org/uniprotkb/P57717" } ], "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": "P57717", "url": "https://www.uniprot.org/uniprotkb/P57717" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P57717", "url": "https://www.uniprot.org/uniprotkb/P57717" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "P57717", "url": "https://www.uniprot.org/uniprotkb/P57717" } ], "pmid": "" }, { "name": "embryonic cranial skeleton morphogenesis", "id": "GO:0048701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048701", "evidence": [ { "database": "UniProtKB", "id": "P57717", "url": "https://www.uniprot.org/uniprotkb/P57717" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P57717", "url": "https://www.uniprot.org/uniprotkb/P57717" } ], "pmid": "" }, { "name": "swimming behavior", "id": "GO:0036269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036269", "evidence": [ { "database": "UniProtKB", "id": "P57717", "url": "https://www.uniprot.org/uniprotkb/P57717" } ], "pmid": "" }, { "name": "cellular response to estrogen stimulus", "id": "GO:0071391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071391", "evidence": [ { "database": "UniProtKB", "id": "P57717", "url": "https://www.uniprot.org/uniprotkb/P57717" } ], "pmid": "" }, { "name": "estrogen receptor signaling pathway", "id": "GO:0030520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030520", "evidence": [ { "database": "UniProtKB", "id": "P57717", "url": "https://www.uniprot.org/uniprotkb/P57717" } ], "pmid": "" }, { "name": "posterior lateral line neuromast primordium migration", "id": "GO:0048920", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048920", "evidence": [ { "database": "UniProtKB", "id": "P57717", "url": "https://www.uniprot.org/uniprotkb/P57717" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "Q66I42-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q66I42", "url": "https://www.uniprot.org/uniprotkb/Q66I42" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 579, "chemical_mass": 68033.0, "gene_names": "msna;cb567;msna;rdx;wu:fb14b03;zgc:85640", "protein_name": "Moesin a", "disease": [ { "disease_id": "DOID:0112001", "name": "immunodeficiency 50", "description": "A combined immunodeficiency characterized by profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, fluctuating neutropenia and onset in early childhood of recurrent bacterial or varicella zoster virus infections that has_material_basis_in hemizygous mutation in MSN on chromosome Xq12.", "url": "https://disease-ontology.org/term/DOID:0112001", "evidence": [ { "id": "0112001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112001" } ], "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 } ], "biological_process": [ { "name": "positive regulation of protein localization to early endosome", "id": "GO:1902966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902966", "evidence": [ { "database": "UniProtKB", "id": "Q66I42", "url": "https://www.uniprot.org/uniprotkb/Q66I42" } ], "pmid": "" }, { "name": "blood vessel lumenization", "id": "GO:0072554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072554", "evidence": [ { "database": "UniProtKB", "id": "Q66I42", "url": "https://www.uniprot.org/uniprotkb/Q66I42" } ], "pmid": "" }, { "name": "regulation of organelle assembly", "id": "GO:1902115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902115", "evidence": [ { "database": "UniProtKB", "id": "Q66I42", "url": "https://www.uniprot.org/uniprotkb/Q66I42" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "Q66I42", "url": "https://www.uniprot.org/uniprotkb/Q66I42" } ], "pmid": "" }, { "name": "endoderm development", "id": "GO:0007492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007492", "evidence": [ { "database": "UniProtKB", "id": "Q66I42", "url": "https://www.uniprot.org/uniprotkb/Q66I42" } ], "pmid": "" }, { "name": "positive regulation of early endosome to late endosome transport", "id": "GO:2000643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000643", "evidence": [ { "database": "UniProtKB", "id": "Q66I42", "url": "https://www.uniprot.org/uniprotkb/Q66I42" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q66I42", "url": "https://www.uniprot.org/uniprotkb/Q66I42" } ], "pmid": "" }, { "name": "cell adhesion molecule binding", "id": "GO:0050839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050839", "evidence": [ { "database": "UniProtKB", "id": "Q66I42", "url": "https://www.uniprot.org/uniprotkb/Q66I42" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q66I42", "url": "https://www.uniprot.org/uniprotkb/Q66I42" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "Q66I42", "url": "https://www.uniprot.org/uniprotkb/Q66I42" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "Q66I42", "url": "https://www.uniprot.org/uniprotkb/Q66I42" } ], "pmid": "" }, { "name": "filopodium", "id": "GO:0030175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030175", "evidence": [ { "database": "UniProtKB", "id": "Q66I42", "url": "https://www.uniprot.org/uniprotkb/Q66I42" } ], "pmid": "" }, { "name": "microvillus", "id": "GO:0005902", "url": 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"https://disease-ontology.org/term/DOID:11725", "evidence": [ { "id": "11725", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11725" } ], "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 } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "F1QBY1", "url": "https://www.uniprot.org/uniprotkb/F1QBY1" } ], "pmid": "" }, { "name": "chromatin loop anchoring activity", "id": "GO:0140587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140587", "evidence": [ { "database": "UniProtKB", "id": "F1QBY1", "url": "https://www.uniprot.org/uniprotkb/F1QBY1" } ], "pmid": "" }, { "name": "cohesin loader activity", "id": "GO:0061775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061775", "evidence": [ { "database": "UniProtKB", "id": "F1QBY1", "url": "https://www.uniprot.org/uniprotkb/F1QBY1" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "F1QBY1", "url": "https://www.uniprot.org/uniprotkb/F1QBY1" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "F1QBY1", "url": "https://www.uniprot.org/uniprotkb/F1QBY1" } ], "pmid": "" }, { "name": "neuron cellular homeostasis", "id": "GO:0070050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070050", "evidence": [ { "database": "UniProtKB", "id": "F1QBY1", "url": "https://www.uniprot.org/uniprotkb/F1QBY1" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "F1QBY1", "url": "https://www.uniprot.org/uniprotkb/F1QBY1" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "F1QBY1", "url": "https://www.uniprot.org/uniprotkb/F1QBY1" } ], "pmid": "" }, { "name": "heart morphogenesis", "id": "GO:0003007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "evidence": [ { "database": "UniProtKB", "id": "F1QBY1", "url": "https://www.uniprot.org/uniprotkb/F1QBY1" } ], "pmid": "" }, { "name": "regulation of canonical Wnt signaling pathway", "id": "GO:0060828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060828", "evidence": [ { "database": "UniProtKB", "id": "F1QBY1", "url": "https://www.uniprot.org/uniprotkb/F1QBY1" } ], "pmid": "" }, { "name": "developmental growth", "id": "GO:0048589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048589", "evidence": [ { "database": "UniProtKB", "id": "F1QBY1", "url": "https://www.uniprot.org/uniprotkb/F1QBY1" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "F1QBY1", "url": "https://www.uniprot.org/uniprotkb/F1QBY1" } ], "pmid": "" }, { "name": "digestive tract development", "id": "GO:0048565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048565", "evidence": [ { "database": "UniProtKB", "id": "F1QBY1", "url": "https://www.uniprot.org/uniprotkb/F1QBY1" } ], "pmid": "" }, { "name": "establishment of mitotic sister chromatid cohesion", "id": "GO:0034087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034087", "evidence": [ { "database": "UniProtKB", "id": "F1QBY1", "url": "https://www.uniprot.org/uniprotkb/F1QBY1" } ], "pmid": "" }, { "name": "mitotic sister chromatid cohesion", "id": "GO:0007064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007064", "evidence": [ { "database": "UniProtKB", "id": "F1QBY1", "url": "https://www.uniprot.org/uniprotkb/F1QBY1" } ], "pmid": "" }, { "name": "embryonic viscerocranium morphogenesis", "id": "GO:0048703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048703", "evidence": [ { "database": "UniProtKB", "id": "F1QBY1", "url": "https://www.uniprot.org/uniprotkb/F1QBY1" } ], "pmid": "" }, { "name": "establishment of protein localization to chromatin", "id": "GO:0071169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071169", "evidence": [ { "database": "UniProtKB", "id": "F1QBY1", "url": "https://www.uniprot.org/uniprotkb/F1QBY1" } ], "pmid": "" }, { "name": "replication-born double-strand break repair via sister chromatid exchange", "id": "GO:1990414", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990414", "evidence": [ { "database": "UniProtKB", "id": "F1QBY1", "url": "https://www.uniprot.org/uniprotkb/F1QBY1" } ], "pmid": "" }, { "name": "regulation of hemopoiesis", "id": "GO:1903706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903706", "evidence": [ { "database": "UniProtKB", "id": "F1QBY1", "url": "https://www.uniprot.org/uniprotkb/F1QBY1" } ], "pmid": "" }, { "name": "chromatin looping", "id": "GO:0140588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140588", "evidence": [ { "database": "UniProtKB", "id": "F1QBY1", "url": "https://www.uniprot.org/uniprotkb/F1QBY1" } ], "pmid": "" }, { "name": "heart jogging", "id": "GO:0003146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003146", "evidence": [ { "database": "UniProtKB", "id": "F1QBY1", "url": "https://www.uniprot.org/uniprotkb/F1QBY1" } ], "pmid": "" }, { "name": "embryonic pectoral fin morphogenesis", "id": "GO:0035118", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035118", "evidence": [ { "database": "UniProtKB", "id": "F1QBY1", "url": "https://www.uniprot.org/uniprotkb/F1QBY1" } ], "pmid": "" } ], "cellular_component": [ { "name": "Scc2-Scc4 cohesin loading complex", "id": "GO:0090694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090694", "evidence": [ { "database": "UniProtKB", "id": "F1QBY1", "url": "https://www.uniprot.org/uniprotkb/F1QBY1" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "F1QBY1", "url": "https://www.uniprot.org/uniprotkb/F1QBY1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "F1QBY1-1", "start_pos": "482", "end_pos": "482", "site_lbl": "Thr482", "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": 482, "start_aa": "Thr", "end_pos": 482, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr482", "evidence": [ { "id": "", "database": "GlyGen", "url": "https://data.glygen.org/" } ] } ] } ], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "F1QLY4-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "F1QLY4", "url": "https://www.uniprot.org/uniprotkb/F1QLY4" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 468, "chemical_mass": 53116.0, "gene_names": "roraa;RORalpha-B;gb:dq017624;rora2;roraa", "protein_name": "Nuclear receptor ROR-alpha A", "disease": [ { "disease_id": "DOID:0050156", "name": "idiopathic pulmonary fibrosis", "description": "A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe.", "url": "https://disease-ontology.org/term/DOID:0050156", "evidence": [ { "id": "0050156", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050156" } ], "weight": 0.0 }, { "disease_id": "DOID:0080815", "name": "childhood-onset asthma", "description": "A chronic asthma that is characterized by first presentation in early childhood.", "url": "https://disease-ontology.org/term/DOID:0080815", "evidence": [ { "id": "0080815", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080815" } ], "weight": 0.0 }, { "disease_id": "DOID:0080826", "name": "nocturnal asthma", "description": "A chronic asthma that is characterized by significant decline in pulmonary function and increase of airway inflammation at night. During sleep, recumbent posture causes a reduction in the lung volumes, respiratory muscle tone, and lung compliance. The overnight physiological abnormalities include: increased airway inflammation and decreased steroid responsiveness, increased pulmonary capillary blood volume, functional differences in blood/air volume ratios and mechanical coupling of the parenchyma to the airways.", "url": "https://disease-ontology.org/term/DOID:0080826", "evidence": [ { "id": "0080826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080826" } ], "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:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:399", "name": "tuberculosis", "description": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.", "url": "https://disease-ontology.org/term/DOID:399", "evidence": [ { "id": "399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:399" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:9408", "name": "acute myocardial infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:9408", "evidence": [ { "id": "9408", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9408" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": 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"id": "GO:0021587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021587", "evidence": [ { "database": "UniProtKB", "id": "F1QLY4", "url": "https://www.uniprot.org/uniprotkb/F1QLY4" } ], "pmid": "" }, { "name": "rhythmic process", "id": "GO:0048511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048511", "evidence": [ { "database": "UniProtKB", "id": "F1QLY4", "url": "https://www.uniprot.org/uniprotkb/F1QLY4" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "F1QLY4", "url": "https://www.uniprot.org/uniprotkb/F1QLY4" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "F1QLY4", "url": "https://www.uniprot.org/uniprotkb/F1QLY4" } ], "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": "F1QLY4", "url": "https://www.uniprot.org/uniprotkb/F1QLY4" } ], "pmid": "" }, { "name": "nuclear receptor activity", "id": "GO:0004879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004879", "evidence": [ { "database": "UniProtKB", "id": "F1QLY4", "url": "https://www.uniprot.org/uniprotkb/F1QLY4" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "F1QLY4", "url": "https://www.uniprot.org/uniprotkb/F1QLY4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "Q68EI3-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q68EI3", "url": "https://www.uniprot.org/uniprotkb/Q68EI3" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 885, "chemical_mass": 98709.0, "gene_names": "agbl5;agbl5;ccp5;zgc:91997", "protein_name": "Cytosolic carboxypeptidase-like protein 5", "disease": [ { "disease_id": "DOID:0110361", "name": "retinitis pigmentosa 75", "description": "A retinitis pigmentosa that has_material_basis_in mutation in the AGBL5 gene on chromosome 2p23.", "url": "https://disease-ontology.org/term/DOID:0110361", "evidence": [ { "id": "0110361", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110361" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q68EI3", "url": "https://www.uniprot.org/uniprotkb/Q68EI3" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q68EI3", "url": "https://www.uniprot.org/uniprotkb/Q68EI3" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q68EI3", "url": "https://www.uniprot.org/uniprotkb/Q68EI3" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "Q68EI3", "url": "https://www.uniprot.org/uniprotkb/Q68EI3" } ], "pmid": "" }, { "name": "midbody", "id": "GO:0030496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030496", "evidence": [ { "database": "UniProtKB", "id": "Q68EI3", "url": "https://www.uniprot.org/uniprotkb/Q68EI3" } ], "pmid": "" }, { "name": "mitotic spindle", "id": "GO:0072686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072686", "evidence": [ { "database": "UniProtKB", "id": "Q68EI3", "url": "https://www.uniprot.org/uniprotkb/Q68EI3" } ], "pmid": "" }, { "name": "spindle", "id": "GO:0005819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005819", "evidence": [ { "database": "UniProtKB", "id": "Q68EI3", "url": "https://www.uniprot.org/uniprotkb/Q68EI3" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q68EI3", "url": "https://www.uniprot.org/uniprotkb/Q68EI3" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "Q68EI3", "url": "https://www.uniprot.org/uniprotkb/Q68EI3" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q68EI3", "url": "https://www.uniprot.org/uniprotkb/Q68EI3" } ], "pmid": "" }, { "name": "chordate embryonic development", "id": "GO:0043009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043009", "evidence": [ { "database": "UniProtKB", "id": "Q68EI3", "url": "https://www.uniprot.org/uniprotkb/Q68EI3" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q68EI3", "url": "https://www.uniprot.org/uniprotkb/Q68EI3" } ], "pmid": "" }, { "name": "metallocarboxypeptidase activity", "id": "GO:0004181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004181", "evidence": [ { "database": "UniProtKB", "id": "Q68EI3", "url": "https://www.uniprot.org/uniprotkb/Q68EI3" } ], "pmid": "" }, { "name": "tubulin binding", "id": "GO:0015631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015631", "evidence": [ { "database": "UniProtKB", "id": "Q68EI3", "url": "https://www.uniprot.org/uniprotkb/Q68EI3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "Q5U3A7-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q5U3A7", "url": "https://www.uniprot.org/uniprotkb/Q5U3A7" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 966, "chemical_mass": 111333.0, "gene_names": "opa1;fk62d06;opa1;wu:fb77a10;wu:fk62d06;zgc:92092", "protein_name": "Dynamin-like GTPase OPA1, mitochondrial", "disease": [ { "disease_id": "DOID:0080336", "name": "mitochondrial DNA depletion syndrome 14", "description": "A mitochondrial DNA depletion syndrome that is characterized by severe lethal infantile mitochondrial encephalomyopathy and hypertrophic cardiomyopathy, with hypotonia and peripheral hypertonia with opisthotonic posturing, as well as feeding difficulties and profound neurodevelopmental delay, and has_material_basis_in homozygous mutation in the OPA1 mitochondrial dynamin like GTPase gene on chromosome 3q29.", "url": "https://disease-ontology.org/term/DOID:0080336", "evidence": [ { "id": "0080336", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080336" } ], "weight": 0.0 }, { "disease_id": "DOID:0111340", "name": "dominant optic atrophy plus syndrome", "description": "A syndrome characterized by visual loss and sensorineural hearing loss with onset in childhood and associated with other symptoms including; progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29.", "url": "https://disease-ontology.org/term/DOID:0111340", "evidence": [ { "id": "0111340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111340" } ], "weight": 0.0 }, { "disease_id": "DOID:0111441", "name": "optic atrophy 1", "description": "An optic atrophy characterized by early childhood onset of visual impairment, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29.", "url": "https://disease-ontology.org/term/DOID:0111441", "evidence": [ { "id": "0111441", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111441" } ], "weight": 0.0 }, { "disease_id": "DOID:0111580", "name": "Behr syndrome", "description": "A nervous system disease characterized by early-onset optic atrophy, ataxia, pyramidal signs, spasticity, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the OPA1 gene on chromosome 3q29.", "url": "https://disease-ontology.org/term/DOID:0111580", "evidence": [ { "id": "0111580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111580" } ], "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: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:4483", "name": "rhinitis", "description": "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.", "url": "https://disease-ontology.org/term/DOID:4483", "evidence": [ { "id": "4483", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4483" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5723", "name": "optic atrophy", "description": "An optic nerve disease that is characterized the death of the retinal ganglion cell axons that comprise the optic nerve.", "url": "https://disease-ontology.org/term/DOID:5723", "evidence": [ { "id": "5723", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5723" } ], "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:784", "name": "chronic kidney disease", "description": "A kidney failure that is characterized by the gradual loss of kidney function, present for a minimum of 3 months. CKD is classified based on cause, glomerular filtration rate (GFR) category (G2-G5), and albuminuria category (A1-A3).", "url": "https://disease-ontology.org/term/DOID:784", "evidence": [ { "id": "784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:784" } ], "weight": 0.0 }, { "disease_id": "DOID:890", "name": "mitochondrial encephalomyopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:890", "evidence": [ { "id": "890", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:890" } ], "weight": 0.0 }, { "disease_id": "DOID:9282", "name": "ocular hypertension", "description": "An eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss.", "url": "https://disease-ontology.org/term/DOID:9282", "evidence": [ { "id": "9282", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9282" } ], "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 } ], "biological_process": [ { "name": "membrane tubulation", "id": "GO:0097749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097749", "evidence": [ { "database": "UniProtKB", "id": "Q5U3A7", "url": "https://www.uniprot.org/uniprotkb/Q5U3A7" } ], "pmid": "" }, { "name": "positive regulation of interleukin-17 production", "id": "GO:0032740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032740", "evidence": [ { "database": "UniProtKB", "id": "Q5U3A7", "url": "https://www.uniprot.org/uniprotkb/Q5U3A7" } ], "pmid": "" }, { "name": "peroxisome fission", "id": "GO:0016559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016559", "evidence": [ { "database": "UniProtKB", "id": "Q5U3A7", "url": "https://www.uniprot.org/uniprotkb/Q5U3A7" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q5U3A7", "url": "https://www.uniprot.org/uniprotkb/Q5U3A7" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q5U3A7", "url": "https://www.uniprot.org/uniprotkb/Q5U3A7" } ], "pmid": "" }, { "name": "mitochondrial fusion", "id": "GO:0008053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008053", "evidence": [ { "database": "UniProtKB", "id": "Q5U3A7", "url": "https://www.uniprot.org/uniprotkb/Q5U3A7" } ], "pmid": "" }, { "name": "GTP metabolic process", "id": "GO:0046039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046039", "evidence": [ { "database": "UniProtKB", "id": "Q5U3A7", "url": "https://www.uniprot.org/uniprotkb/Q5U3A7" } ], "pmid": "" }, { "name": "ventricular cardiac muscle cell development", "id": "GO:0055015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055015", "evidence": [ { "database": "UniProtKB", "id": "Q5U3A7", "url": "https://www.uniprot.org/uniprotkb/Q5U3A7" } ], "pmid": "" }, { "name": "chordate embryonic development", "id": "GO:0043009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043009", "evidence": [ { "database": "UniProtKB", "id": "Q5U3A7", "url": "https://www.uniprot.org/uniprotkb/Q5U3A7" } ], "pmid": "" }, { "name": "positive regulation of T-helper 17 cell lineage commitment", "id": "GO:2000330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000330", "evidence": [ { "database": "UniProtKB", "id": "Q5U3A7", "url": "https://www.uniprot.org/uniprotkb/Q5U3A7" } ], "pmid": "" }, { "name": "mitochondrial inner membrane fusion", "id": "GO:1990627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990627", "evidence": [ { "database": "UniProtKB", "id": "Q5U3A7", "url": "https://www.uniprot.org/uniprotkb/Q5U3A7" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q5U3A7", "url": "https://www.uniprot.org/uniprotkb/Q5U3A7" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q5U3A7", "url": "https://www.uniprot.org/uniprotkb/Q5U3A7" } ], "pmid": "" }, { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q5U3A7", "url": "https://www.uniprot.org/uniprotkb/Q5U3A7" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q5U3A7", "url": "https://www.uniprot.org/uniprotkb/Q5U3A7" } ], "pmid": "" }, { "name": "phosphatidic acid binding", "id": "GO:0070300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070300", "evidence": [ { "database": "UniProtKB", "id": "Q5U3A7", "url": "https://www.uniprot.org/uniprotkb/Q5U3A7" } ], "pmid": "" }, { "name": "cardiolipin binding", "id": "GO:1901612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901612", "evidence": [ { "database": "UniProtKB", "id": "Q5U3A7", "url": "https://www.uniprot.org/uniprotkb/Q5U3A7" } ], "pmid": "" }, { "name": "GTPase-dependent fusogenic activity", "id": "GO:0140523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140523", "evidence": [ { "database": "UniProtKB", "id": "Q5U3A7", "url": "https://www.uniprot.org/uniprotkb/Q5U3A7" } ], "pmid": "" }, { "name": "membrane bending activity", "id": "GO:0180020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0180020", "evidence": [ { "database": "UniProtKB", "id": "Q5U3A7", "url": "https://www.uniprot.org/uniprotkb/Q5U3A7" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "Q5U3A7", "url": "https://www.uniprot.org/uniprotkb/Q5U3A7" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q5U3A7", "url": "https://www.uniprot.org/uniprotkb/Q5U3A7" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q5U3A7", "url": "https://www.uniprot.org/uniprotkb/Q5U3A7" } ], "pmid": "" }, { "name": "mitochondrial intermembrane space", "id": "GO:0005758", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005758", "evidence": [ { "database": "UniProtKB", "id": "Q5U3A7", "url": "https://www.uniprot.org/uniprotkb/Q5U3A7" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q5U3A7", "url": "https://www.uniprot.org/uniprotkb/Q5U3A7" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q5U3A7", "url": "https://www.uniprot.org/uniprotkb/Q5U3A7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "F1Q506-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "F1Q506", "url": "https://www.uniprot.org/uniprotkb/F1Q506" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 229, "chemical_mass": 26388.0, "gene_names": "snx10a;Snx10;im:7153949;snx10a", "protein_name": "Sorting nexin-10A", "disease": [ { "disease_id": "DOID:0110940", "name": "autosomal recessive osteopetrosis 8", "description": "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SNX10 gene on chromosome 7p15.", "url": "https://disease-ontology.org/term/DOID:0110940", "evidence": [ { "id": "0110940", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110940" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "F1Q506", "url": "https://www.uniprot.org/uniprotkb/F1Q506" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "F1Q506", "url": "https://www.uniprot.org/uniprotkb/F1Q506" } ], "pmid": "" }, 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"evidence": [ { "database": "UniProtKB", "id": "E9QJ30", "url": "https://www.uniprot.org/uniprotkb/E9QJ30" } ], "pmid": "" }, { "name": "swimming", "id": "GO:0036268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036268", "evidence": [ { "database": "UniProtKB", "id": "E9QJ30", "url": "https://www.uniprot.org/uniprotkb/E9QJ30" } ], "pmid": "" } ], "molecular_function": [ { "name": "ubiquitin-like ligase-substrate adaptor activity", "id": "GO:1990756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990756", "evidence": [ { "database": "UniProtKB", "id": "E9QJ30", "url": "https://www.uniprot.org/uniprotkb/E9QJ30" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "E9QJ73-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "E9QJ73", "url": "https://www.uniprot.org/uniprotkb/E9QJ73" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 378, "chemical_mass": 42263.0, "gene_names": "cxcr3.2;cxcr3.2;zgc:92301", "protein_name": "C-X-C chemokine receptor type 3-2", "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:13406", "name": "pulmonary sarcoidosis", "description": "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.", "url": "https://disease-ontology.org/term/DOID:13406", "evidence": [ { "id": "13406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13406" } ], "weight": 0.0 }, { "disease_id": "DOID:14004", "name": "thoracic aortic aneurysm", "description": "An aortic aneurysm that is located_in the thoracic aorta.", "url": "https://disease-ontology.org/term/DOID:14004", "evidence": [ { "id": "14004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14004" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:437", "name": "myasthenia gravis", "description": "An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom shortness of breath.", "url": "https://disease-ontology.org/term/DOID:437", "evidence": [ { "id": "437", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:437" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:841", "name": "extrinsic allergic alveolitis", "description": "An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss.", "url": "https://disease-ontology.org/term/DOID:841", "evidence": [ { "id": "841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:841" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID: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": 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"record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "F1Q691-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "F1Q691", "url": "https://www.uniprot.org/uniprotkb/F1Q691" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 190, "chemical_mass": 21195.0, "gene_names": "tdgf1;cb85;cripto;oep;tdgf1;wu:fe01d04;zgc:109829", "protein_name": "", "disease": [ { "disease_id": "DOID:0080074", "name": "neural tube defect", "description": "A physical disorder characterized by incomplete closure of the neural tube.", "url": "https://disease-ontology.org/term/DOID:0080074", "evidence": [ { "id": "0080074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080074" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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 } ], "biological_process": [ { "name": "floor plate formation", "id": "GO:0021508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021508", "evidence": [ { "database": "UniProtKB", "id": "F1Q691", "url": "https://www.uniprot.org/uniprotkb/F1Q691" } ], "pmid": "" }, { "name": "notochord morphogenesis", "id": "GO:0048570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048570", "evidence": [ { "database": "UniProtKB", "id": "F1Q691", "url": "https://www.uniprot.org/uniprotkb/F1Q691" } ], "pmid": "" }, { "name": "prechordal plate formation", "id": "GO:0021501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021501", "evidence": [ { "database": "UniProtKB", "id": "F1Q691", "url": "https://www.uniprot.org/uniprotkb/F1Q691" } ], "pmid": "" }, { "name": "lens placode formation involved in camera-type eye formation", "id": "GO:0046619", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046619", "evidence": [ { "database": "UniProtKB", "id": "F1Q691", "url": "https://www.uniprot.org/uniprotkb/F1Q691" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "F1Q691", "url": "https://www.uniprot.org/uniprotkb/F1Q691" } ], "pmid": "" }, { "name": "forebrain development", "id": "GO:0030900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030900", "evidence": [ { "database": "UniProtKB", "id": "F1Q691", "url": "https://www.uniprot.org/uniprotkb/F1Q691" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "F1Q691", "url": "https://www.uniprot.org/uniprotkb/F1Q691" } ], "pmid": "" }, { "name": "retina development in camera-type eye", "id": "GO:0060041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060041", "evidence": [ { "database": "UniProtKB", "id": "F1Q691", "url": "https://www.uniprot.org/uniprotkb/F1Q691" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "F1Q691", "url": "https://www.uniprot.org/uniprotkb/F1Q691" } ], "pmid": "" }, { "name": "neural tube closure", "id": "GO:0001843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001843", "evidence": [ { "database": "UniProtKB", "id": "F1Q691", "url": "https://www.uniprot.org/uniprotkb/F1Q691" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "F1Q691", "url": "https://www.uniprot.org/uniprotkb/F1Q691" } ], "pmid": "" }, { "name": "somitogenesis", "id": "GO:0001756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001756", "evidence": [ { "database": "UniProtKB", "id": "F1Q691", "url": "https://www.uniprot.org/uniprotkb/F1Q691" } ], "pmid": "" }, { "name": "nodal signaling pathway", "id": "GO:0038092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038092", "evidence": [ { "database": "UniProtKB", "id": "F1Q691", "url": "https://www.uniprot.org/uniprotkb/F1Q691" } ], "pmid": "" }, { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "F1Q691", "url": "https://www.uniprot.org/uniprotkb/F1Q691" } ], "pmid": "" }, { "name": "mesoderm formation", "id": "GO:0001707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001707", "evidence": [ { "database": "UniProtKB", "id": "F1Q691", "url": "https://www.uniprot.org/uniprotkb/F1Q691" } ], "pmid": "" }, { "name": "ectoderm development", "id": "GO:0007398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007398", "evidence": [ { "database": "UniProtKB", "id": "F1Q691", "url": "https://www.uniprot.org/uniprotkb/F1Q691" } ], "pmid": "" }, { "name": "dorsal/ventral pattern formation", "id": "GO:0009953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009953", "evidence": [ { "database": "UniProtKB", "id": "F1Q691", "url": "https://www.uniprot.org/uniprotkb/F1Q691" } ], "pmid": "" }, { "name": "adrenal gland development", "id": "GO:0030325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030325", "evidence": [ { "database": "UniProtKB", "id": "F1Q691", "url": "https://www.uniprot.org/uniprotkb/F1Q691" } ], "pmid": "" }, { "name": "digestive tract development", "id": "GO:0048565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048565", "evidence": [ { "database": "UniProtKB", "id": "F1Q691", "url": "https://www.uniprot.org/uniprotkb/F1Q691" } ], "pmid": "" }, { "name": "brain morphogenesis", "id": "GO:0048854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048854", "evidence": [ { "database": "UniProtKB", "id": "F1Q691", "url": "https://www.uniprot.org/uniprotkb/F1Q691" } ], "pmid": "" }, { "name": "induction of positive chemotaxis", "id": "GO:0050930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050930", "evidence": [ { "database": "UniProtKB", "id": "F1Q691", "url": "https://www.uniprot.org/uniprotkb/F1Q691" } ], "pmid": "" }, { "name": "hypothalamus development", "id": "GO:0021854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021854", "evidence": [ { "database": "UniProtKB", "id": "F1Q691", "url": "https://www.uniprot.org/uniprotkb/F1Q691" } ], "pmid": "" }, { "name": "floor plate development", "id": "GO:0033504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033504", "evidence": [ { "database": "UniProtKB", "id": "F1Q691", "url": "https://www.uniprot.org/uniprotkb/F1Q691" } ], "pmid": "" }, { "name": "notochord development", "id": "GO:0030903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030903", "evidence": [ { "database": "UniProtKB", "id": "F1Q691", "url": "https://www.uniprot.org/uniprotkb/F1Q691" } ], "pmid": "" }, { "name": "germ cell migration", "id": "GO:0008354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008354", "evidence": [ { "database": "UniProtKB", "id": "F1Q691", "url": "https://www.uniprot.org/uniprotkb/F1Q691" } ], "pmid": "" }, { "name": "endoderm formation", "id": "GO:0001706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001706", "evidence": [ { "database": "UniProtKB", "id": "F1Q691", "url": "https://www.uniprot.org/uniprotkb/F1Q691" } ], "pmid": "" }, { "name": "mesoderm development", "id": "GO:0007498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007498", "evidence": [ { "database": "UniProtKB", "id": "F1Q691", "url": "https://www.uniprot.org/uniprotkb/F1Q691" } ], "pmid": "" }, { "name": "telencephalon development", "id": "GO:0021537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021537", "evidence": [ { "database": "UniProtKB", "id": "F1Q691", "url": "https://www.uniprot.org/uniprotkb/F1Q691" } ], "pmid": "" }, { "name": "mesendoderm development", "id": "GO:0048382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048382", "evidence": [ { "database": "UniProtKB", "id": "F1Q691", "url": "https://www.uniprot.org/uniprotkb/F1Q691" } ], "pmid": "" }, { "name": "somite development", "id": "GO:0061053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061053", "evidence": [ { "database": "UniProtKB", "id": "F1Q691", "url": "https://www.uniprot.org/uniprotkb/F1Q691" } ], "pmid": "" }, { "name": "paraxial mesoderm development", "id": "GO:0048339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048339", "evidence": [ { "database": "UniProtKB", "id": "F1Q691", "url": "https://www.uniprot.org/uniprotkb/F1Q691" } ], "pmid": "" }, { "name": "neural plate anterior/posterior regionalization", "id": "GO:0021999", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021999", "evidence": [ { "database": "UniProtKB", "id": "F1Q691", "url": "https://www.uniprot.org/uniprotkb/F1Q691" } ], "pmid": "" }, { "name": "convergent extension involved in gastrulation", "id": "GO:0060027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060027", "evidence": [ { "database": "UniProtKB", "id": "F1Q691", "url": "https://www.uniprot.org/uniprotkb/F1Q691" } ], "pmid": "" }, { "name": "cardioblast migration to the midline involved in heart field formation", "id": "GO:0060975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060975", "evidence": [ { "database": "UniProtKB", "id": "F1Q691", "url": "https://www.uniprot.org/uniprotkb/F1Q691" } ], "pmid": "" }, { "name": "pronephric glomerulus morphogenesis", "id": "GO:0035775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035775", "evidence": [ { "database": "UniProtKB", "id": "F1Q691", "url": "https://www.uniprot.org/uniprotkb/F1Q691" } ], "pmid": "" }, { "name": "convergent extension involved in nephron morphogenesis", "id": "GO:0072045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072045", "evidence": [ { "database": "UniProtKB", "id": "F1Q691", "url": "https://www.uniprot.org/uniprotkb/F1Q691" } ], "pmid": "" }, { "name": "hypoblast development", "id": "GO:0090008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090008", "evidence": [ { "database": "UniProtKB", "id": "F1Q691", "url": "https://www.uniprot.org/uniprotkb/F1Q691" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "F1Q691", "url": "https://www.uniprot.org/uniprotkb/F1Q691" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "F1Q691", "url": "https://www.uniprot.org/uniprotkb/F1Q691" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "F1Q691", "url": "https://www.uniprot.org/uniprotkb/F1Q691" } ], "pmid": "" } ], "molecular_function": [ { "name": "nodal binding", "id": "GO:0038100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038100", "evidence": [ { "database": "UniProtKB", "id": "F1Q691", "url": "https://www.uniprot.org/uniprotkb/F1Q691" } ], "pmid": "" }, { "name": "activin receptor binding", "id": "GO:0070697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070697", "evidence": [ { "database": "UniProtKB", "id": "F1Q691", "url": "https://www.uniprot.org/uniprotkb/F1Q691" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "F1Q6J9-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "F1Q6J9", "url": "https://www.uniprot.org/uniprotkb/F1Q6J9" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 793, "chemical_mass": 89948.0, "gene_names": "prickle1a;fk71b09;pk1;prickle1a;prickle1;wu:fk71b09", "protein_name": "", "disease": [ { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:0060764", "name": "autosomal recessive Robinow syndrome", "description": "A Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has_material_basis_in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22.", "url": "https://disease-ontology.org/term/DOID:0060764", "evidence": [ { "id": "0060764", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060764" } ], "weight": 0.0 }, { "disease_id": "DOID:0111448", "name": "progressive myoclonus epilepsy 1B", "description": "An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PRICKLE1 gene on chromosome 12q12.", "url": "https://disease-ontology.org/term/DOID:0111448", "evidence": [ { "id": "0111448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111448" } ], "weight": 0.0 }, { "disease_id": "DOID:12583", "name": "velocardiofacial syndrome", "description": "A chromosomal deletion disease that has_material_basis_in da 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 and that is characterized by variable developmental problems and schizoid features. 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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 } ], "biological_process": [ { "name": "neural retina development", "id": "GO:0003407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003407", "evidence": [ { "database": "UniProtKB", "id": "F1Q6J9", "url": "https://www.uniprot.org/uniprotkb/F1Q6J9" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "F1Q6J9", "url": "https://www.uniprot.org/uniprotkb/F1Q6J9" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "F1Q6J9", "url": "https://www.uniprot.org/uniprotkb/F1Q6J9" } ], "pmid": "" }, { "name": "neural crest cell migration", "id": "GO:0001755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001755", "evidence": [ { "database": "UniProtKB", "id": "F1Q6J9", "url": "https://www.uniprot.org/uniprotkb/F1Q6J9" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "F1Q6J9", "url": "https://www.uniprot.org/uniprotkb/F1Q6J9" } ], "pmid": "" }, { "name": "cell migration involved in gastrulation", "id": "GO:0042074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042074", "evidence": [ { "database": "UniProtKB", "id": "F1Q6J9", "url": "https://www.uniprot.org/uniprotkb/F1Q6J9" } ], "pmid": "" }, { "name": "heart looping", "id": "GO:0001947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001947", "evidence": [ { "database": "UniProtKB", "id": "F1Q6J9", "url": "https://www.uniprot.org/uniprotkb/F1Q6J9" } ], "pmid": "" }, { "name": "Kupffer's vesicle development", "id": "GO:0070121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070121", "evidence": [ { "database": "UniProtKB", "id": "F1Q6J9", "url": "https://www.uniprot.org/uniprotkb/F1Q6J9" } ], "pmid": "" }, { "name": "establishment of mitotic spindle orientation", "id": "GO:0000132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000132", "evidence": [ { "database": "UniProtKB", "id": "F1Q6J9", "url": "https://www.uniprot.org/uniprotkb/F1Q6J9" } ], "pmid": "" }, { "name": "cell migration in hindbrain", "id": "GO:0021535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021535", "evidence": [ { "database": "UniProtKB", "id": "F1Q6J9", "url": "https://www.uniprot.org/uniprotkb/F1Q6J9" } ], "pmid": "" }, { "name": "intrahepatic bile duct development", "id": "GO:0035622", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035622", "evidence": [ { "database": "UniProtKB", "id": "F1Q6J9", "url": "https://www.uniprot.org/uniprotkb/F1Q6J9" } ], "pmid": "" }, { "name": "determination of digestive tract left/right asymmetry", "id": "GO:0071907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071907", "evidence": [ { "database": "UniProtKB", "id": "F1Q6J9", "url": "https://www.uniprot.org/uniprotkb/F1Q6J9" } ], "pmid": "" }, { "name": "determination of liver left/right asymmetry", "id": "GO:0071910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071910", "evidence": [ { "database": "UniProtKB", "id": "F1Q6J9", "url": "https://www.uniprot.org/uniprotkb/F1Q6J9" } ], "pmid": "" }, { "name": "convergent extension involved in gastrulation", "id": "GO:0060027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060027", "evidence": [ { "database": "UniProtKB", "id": "F1Q6J9", "url": "https://www.uniprot.org/uniprotkb/F1Q6J9" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "F1Q6J9", "url": "https://www.uniprot.org/uniprotkb/F1Q6J9" } ], "pmid": "" } ], "cellular_component": [ { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "F1Q6J9", "url": "https://www.uniprot.org/uniprotkb/F1Q6J9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "F1Q6W4-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "F1Q6W4", "url": "https://www.uniprot.org/uniprotkb/F1Q6W4" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 304, "chemical_mass": 34132.0, "gene_names": "cdk5r1b;cdk5r1b;cdk5r1;p35;zgc:92814", "protein_name": "Cyclin-dependent kinase 5 activator", "disease": [ { "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:1094", "name": "attention deficit hyperactivity disorder", "description": "A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age.", "url": "https://disease-ontology.org/term/DOID:1094", "evidence": [ { "id": "1094", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1094" } ], "weight": 0.0 } ], "biological_process": [ { "name": "embryonic retina morphogenesis in camera-type eye", "id": "GO:0060059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060059", "evidence": [ { "database": "UniProtKB", "id": "F1Q6W4", "url": "https://www.uniprot.org/uniprotkb/F1Q6W4" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "F1Q6W4", "url": "https://www.uniprot.org/uniprotkb/F1Q6W4" } ], "pmid": "" }, { "name": "retina development in camera-type eye", "id": "GO:0060041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060041", "evidence": [ { "database": "UniProtKB", "id": "F1Q6W4", "url": "https://www.uniprot.org/uniprotkb/F1Q6W4" } ], "pmid": "" }, { 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"GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "F1Q6W4", "url": "https://www.uniprot.org/uniprotkb/F1Q6W4" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "F1Q6W4", "url": "https://www.uniprot.org/uniprotkb/F1Q6W4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "F1Q6W4", "url": "https://www.uniprot.org/uniprotkb/F1Q6W4" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "F1Q6W4", "url": "https://www.uniprot.org/uniprotkb/F1Q6W4" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { 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"name": "neuron development", "id": "GO:0048666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048666", "evidence": [ { "database": "UniProtKB", "id": "F1QGL1", "url": "https://www.uniprot.org/uniprotkb/F1QGL1" } ], "pmid": "" }, { "name": "regulation of heart rate", "id": "GO:0002027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002027", "evidence": [ { "database": "UniProtKB", "id": "F1QGL1", "url": "https://www.uniprot.org/uniprotkb/F1QGL1" } ], "pmid": "" }, { "name": "pigmentation", "id": "GO:0043473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043473", "evidence": [ { "database": "UniProtKB", "id": "F1QGL1", "url": "https://www.uniprot.org/uniprotkb/F1QGL1" } ], "pmid": "" }, { "name": "cartilage development", "id": "GO:0051216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051216", "evidence": [ { "database": "UniProtKB", "id": "F1QGL1", "url": "https://www.uniprot.org/uniprotkb/F1QGL1" } ], "pmid": "" }, { "name": "bone mineralization", "id": "GO:0030282", "url": 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"species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "F1QLR7", "url": "https://www.uniprot.org/uniprotkb/F1QLR7" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 1382, "chemical_mass": 154185.0, "gene_names": "met;c-met;cmet;don;met", "protein_name": "Hepatocyte growth factor receptor", "disease": [ { "disease_id": "DOID:0050646", "name": "distal arthrogryposis", "description": "A muscle tissue disease characterized by congenital joint contractures of hand and feet.", "url": "https://disease-ontology.org/term/DOID:0050646", "evidence": [ { "id": "0050646", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050646" } ], "weight": 0.0 }, { "disease_id": "DOID:0050865", "name": "tongue squamous cell carcinoma", "description": "A head and neck squamous cell carcinoma that is located_in the tongue.", "url": "https://disease-ontology.org/term/DOID:0050865", 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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "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:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:4465", "name": "papillary renal cell carcinoma", "description": "A renal cell carcinoma that is characterized by the development of multiple, bilateral papillary renal tumors.", "url": "https://disease-ontology.org/term/DOID:4465", "evidence": [ { "id": "4465", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4465" } ], "weight": 0.0 }, { "disease_id": "DOID:4552", "name": "large cell carcinoma", "description": "A carcinoma that is composed of large, monotonous rounded or overtly polygonal-shaped cells with abundant cytoplasm.", "url": "https://disease-ontology.org/term/DOID:4552", "evidence": [ { "id": "4552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4552" } ], "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:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas.", "url": "https://disease-ontology.org/term/DOID:4989", "evidence": [ { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" } ], "weight": 0.0 }, { "disease_id": "DOID:5577", "name": "gastrinoma", "description": "A neuroendocrine tumor that results_in an overproduction of gastric acid.", "url": "https://disease-ontology.org/term/DOID:5577", "evidence": [ { "id": "5577", "database": "AGR", "url": 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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: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:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes.", "url": "https://disease-ontology.org/term/DOID:2531", "evidence": [ { "id": "2531", "database": "AGR", "url": 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discomfort or pain and has_symptom weight loss and has_symptom hemoptysis.", "url": "https://disease-ontology.org/term/DOID:3905", "evidence": [ { "id": "3905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3905" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID:4033", "name": "bacterial gastritis", "description": "A gastritis that involves inflammation of the stomach lining caused by bacteria. The disease has_symptom abdominal pain, has_symptom indigestion, has_symptom ulcer formation, has_symptom abdominal bloating, has_symptom nausea and has_symptom vomiting.", "url": "https://disease-ontology.org/term/DOID:4033", "evidence": [ { "id": "4033", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4033" } ], "weight": 0.0 }, { "disease_id": "DOID:4971", "name": "myelofibrosis", "description": "A myeloid neoplasm that is located in the bone marrow which results in bone marrow being replaced by fibrous (scar) tissue.", "url": "https://disease-ontology.org/term/DOID:4971", "evidence": [ { "id": "4971", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4971" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5327", "name": "retinal detachment", "description": "", "url": "https://disease-ontology.org/term/DOID:5327", "evidence": [ { "id": "5327", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5327" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 }, { "disease_id": "DOID:8997", "name": "polycythemia vera", "description": "A myeloproliferative neoplasm characterized by erythroid hyperplasia, myeloid leukocytosis, thrombocytosis, and splenomegaly.", "url": "https://disease-ontology.org/term/DOID:8997", "evidence": [ { "id": "8997", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8997" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "molecular_function": [ { "name": "non-membrane spanning protein tyrosine kinase activity", "id": "GO:0004715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004715", "evidence": [ { "database": "UniProtKB", "id": "F1QWX8", "url": "https://www.uniprot.org/uniprotkb/F1QWX8" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "F1QWX8", "url": "https://www.uniprot.org/uniprotkb/F1QWX8" } ], "pmid": "" }, { "name": "growth hormone receptor binding", "id": "GO:0005131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005131", "evidence": [ { "database": "UniProtKB", "id": "F1QWX8", "url": "https://www.uniprot.org/uniprotkb/F1QWX8" } ], "pmid": "" }, { "name": "kinase activity", "id": "GO:0016301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016301", "evidence": [ { "database": "UniProtKB", "id": "F1QWX8", "url": "https://www.uniprot.org/uniprotkb/F1QWX8" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "F1QWX8", "url": "https://www.uniprot.org/uniprotkb/F1QWX8" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "F1QWX8", "url": "https://www.uniprot.org/uniprotkb/F1QWX8" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "F1QWX8", "url": "https://www.uniprot.org/uniprotkb/F1QWX8" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "F1QWX8", "url": "https://www.uniprot.org/uniprotkb/F1QWX8" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "F1QWX8", "url": "https://www.uniprot.org/uniprotkb/F1QWX8" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "F1QWX8", "url": "https://www.uniprot.org/uniprotkb/F1QWX8" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "F1QWX8", "url": "https://www.uniprot.org/uniprotkb/F1QWX8" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "F1QWX8", "url": "https://www.uniprot.org/uniprotkb/F1QWX8" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "F1QWX8", "url": "https://www.uniprot.org/uniprotkb/F1QWX8" } ], "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": "F1QWX8", "url": "https://www.uniprot.org/uniprotkb/F1QWX8" } ], "pmid": "" }, { "name": "positive regulation of cell activation", "id": "GO:0050867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050867", "evidence": [ { "database": "UniProtKB", "id": "F1QWX8", "url": "https://www.uniprot.org/uniprotkb/F1QWX8" } ], "pmid": "" }, { "name": "erythrocyte differentiation", "id": "GO:0030218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030218", "evidence": [ { "database": "UniProtKB", "id": "F1QWX8", "url": "https://www.uniprot.org/uniprotkb/F1QWX8" } ], "pmid": "" }, { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "F1QWX8", "url": "https://www.uniprot.org/uniprotkb/F1QWX8" } ], "pmid": "" }, { "name": "blood vessel morphogenesis", "id": "GO:0048514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048514", "evidence": [ { "database": "UniProtKB", "id": "F1QWX8", "url": "https://www.uniprot.org/uniprotkb/F1QWX8" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "F1QWX8", "url": "https://www.uniprot.org/uniprotkb/F1QWX8" } ], "pmid": "" }, { "name": "hemopoiesis", "id": "GO:0030097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030097", "evidence": [ { "database": "UniProtKB", "id": "F1QWX8", "url": "https://www.uniprot.org/uniprotkb/F1QWX8" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "F1QWX8", "url": "https://www.uniprot.org/uniprotkb/F1QWX8" } ], "pmid": "" }, { "name": "positive regulation of receptor signaling pathway via JAK-STAT", "id": "GO:0046427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046427", "evidence": [ { "database": "UniProtKB", "id": "F1QWX8", "url": "https://www.uniprot.org/uniprotkb/F1QWX8" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "F1QWX8", "url": "https://www.uniprot.org/uniprotkb/F1QWX8" } ], "pmid": "" }, { "name": "positive regulation of intracellular signal transduction", "id": "GO:1902533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902533", "evidence": [ { "database": "UniProtKB", "id": "F1QWX8", "url": "https://www.uniprot.org/uniprotkb/F1QWX8" } ], "pmid": "" }, { "name": "primitive hemopoiesis", "id": "GO:0060215", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060215", "evidence": [ { "database": "UniProtKB", "id": "F1QWX8", "url": "https://www.uniprot.org/uniprotkb/F1QWX8" } ], "pmid": "" }, { "name": "regulation of T cell activation", "id": "GO:0050863", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050863", "evidence": [ { "database": "UniProtKB", "id": "F1QWX8", "url": "https://www.uniprot.org/uniprotkb/F1QWX8" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway via JAK-STAT", "id": "GO:0007259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007259", "evidence": [ { "database": "UniProtKB", "id": "F1QWX8", "url": "https://www.uniprot.org/uniprotkb/F1QWX8" } ], "pmid": "" }, { "name": "growth hormone receptor signaling pathway via JAK-STAT", "id": "GO:0060397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060397", "evidence": [ { "database": "UniProtKB", "id": "F1QWX8", "url": "https://www.uniprot.org/uniprotkb/F1QWX8" } ], "pmid": "" }, { "name": "regulation of leukocyte cell-cell adhesion", "id": "GO:1903037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903037", "evidence": [ { "database": "UniProtKB", "id": "F1QWX8", "url": "https://www.uniprot.org/uniprotkb/F1QWX8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "F1QZ88-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "F1QZ88", "url": "https://www.uniprot.org/uniprotkb/F1QZ88" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 917, "chemical_mass": 100456.0, "gene_names": "e2f8;e2f8;im:7149356;si:ch211-215h6.2;wu:fc06b06", "protein_name": "Transcription factor E2F8", "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": "F1QZ88", "url": "https://www.uniprot.org/uniprotkb/F1QZ88" } ], "pmid": "" }, { "name": "cell cycle comprising mitosis without cytokinesis", "id": "GO:0033301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033301", "evidence": [ { "database": "UniProtKB", "id": "F1QZ88", "url": "https://www.uniprot.org/uniprotkb/F1QZ88" } ], "pmid": "" }, { "name": "chorionic trophoblast cell differentiation", "id": "GO:0060718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060718", "evidence": [ { "database": "UniProtKB", "id": "F1QZ88", "url": "https://www.uniprot.org/uniprotkb/F1QZ88" } ], "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": "F1QZ88", "url": "https://www.uniprot.org/uniprotkb/F1QZ88" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "F1QZ88", "url": "https://www.uniprot.org/uniprotkb/F1QZ88" } ], "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": "F1QZ88", "url": "https://www.uniprot.org/uniprotkb/F1QZ88" } ], "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": "F1QZ88", "url": "https://www.uniprot.org/uniprotkb/F1QZ88" } ], "pmid": "" }, { "name": "negative regulation of DNA-templated transcription", "id": "GO:0045892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "F1QZ88", "url": "https://www.uniprot.org/uniprotkb/F1QZ88" } ], "pmid": "" }, { "name": "lymphangiogenesis", "id": "GO:0001946", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001946", "evidence": [ { "database": "UniProtKB", "id": "F1QZ88", "url": "https://www.uniprot.org/uniprotkb/F1QZ88" } ], "pmid": "" }, { "name": "sprouting angiogenesis", "id": "GO:0002040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002040", "evidence": [ { "database": "UniProtKB", "id": "F1QZ88", "url": "https://www.uniprot.org/uniprotkb/F1QZ88" } ], "pmid": "" }, { "name": "negative regulation of cytokinesis", "id": "GO:0032466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032466", "evidence": [ { "database": "UniProtKB", "id": "F1QZ88", "url": "https://www.uniprot.org/uniprotkb/F1QZ88" } ], "pmid": "" }, { "name": "hepatocyte differentiation", "id": "GO:0070365", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070365", "evidence": [ { "database": 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"F1R4U0-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "F1R4U0", "url": "https://www.uniprot.org/uniprotkb/F1R4U0" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 317, "chemical_mass": 34345.0, "gene_names": "slc25a1b;slc25a1b", "protein_name": "Tricarboxylate transport protein B, mitochondrial", "disease": [ { "disease_id": "DOID:0050573", "name": "2-hydroxyglutaric aciduria", "description": "An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage.", "url": "https://disease-ontology.org/term/DOID:0050573", "evidence": [ { "id": "0050573", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050573" } ], "weight": 0.0 }, { "disease_id": "DOID:0060413", "name": "chromosome 22q11.2 deletion 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"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:3635", "name": "congenital myasthenic syndrome", "description": "A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic).", "url": "https://disease-ontology.org/term/DOID:3635", "evidence": [ { "id": "3635", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3635" } ], "weight": 0.0 }, { "disease_id": "DOID:700", "name": "mitochondrial metabolism disease", "description": "An inherited metabolic disorder that involves mitochondrial metabolism dysfunction.", "url": "https://disease-ontology.org/term/DOID:700", "evidence": [ { "id": "700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:700" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "F1R4U0", "url": "https://www.uniprot.org/uniprotkb/F1R4U0" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "F1R4U0", "url": "https://www.uniprot.org/uniprotkb/F1R4U0" } ], "pmid": "" } ], "biological_process": [ { "name": "neuromuscular junction development", "id": "GO:0007528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007528", "evidence": [ { "database": "UniProtKB", "id": "F1R4U0", "url": "https://www.uniprot.org/uniprotkb/F1R4U0" } ], "pmid": "" }, { "name": "mitochondrial citrate transmembrane transport", "id": "GO:0006843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006843", "evidence": [ { "database": "UniProtKB", "id": "F1R4U0", "url": "https://www.uniprot.org/uniprotkb/F1R4U0" } ], "pmid": "" } ], "molecular_function": [ { "name": "antiporter activity", "id": "GO:0015297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015297", "evidence": [ { "database": "UniProtKB", "id": "F1R4U0", "url": "https://www.uniprot.org/uniprotkb/F1R4U0" } ], "pmid": "" }, { "name": "tricarboxylic acid transmembrane transporter activity", "id": "GO:0015142", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015142", "evidence": [ { "database": "UniProtKB", "id": "F1R4U0", "url": "https://www.uniprot.org/uniprotkb/F1R4U0" } ], "pmid": "" }, { "name": "citrate secondary active transmembrane transporter activity", "id": "GO:0071913", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071913", "evidence": [ { "database": "UniProtKB", "id": "F1R4U0", "url": "https://www.uniprot.org/uniprotkb/F1R4U0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "F1R5H6-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "F1R5H6", "url": "https://www.uniprot.org/uniprotkb/F1R5H6" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 1444, "chemical_mass": 159675.0, "gene_names": "brd4;brd4;fb18g03;wu:fb18g03", "protein_name": "Bromodomain-containing protein 4", "disease": [ { "disease_id": "DOID:0050156", "name": "idiopathic pulmonary fibrosis", "description": "A pulmonary fibrosis 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"GO:0042393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042393", "evidence": [ { "database": "UniProtKB", "id": "F1R5H6", "url": "https://www.uniprot.org/uniprotkb/F1R5H6" } ], "pmid": "" }, { "name": "p53 binding", "id": "GO:0002039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002039", "evidence": [ { "database": "UniProtKB", "id": "F1R5H6", "url": "https://www.uniprot.org/uniprotkb/F1R5H6" } ], "pmid": "" }, { "name": "histone reader activity", "id": "GO:0140566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140566", "evidence": [ { "database": "UniProtKB", "id": "F1R5H6", "url": "https://www.uniprot.org/uniprotkb/F1R5H6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "F1R5H6-1", "start_pos": "355", "end_pos": "355", "site_lbl": "Thr355", "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": 355, "start_aa": "Thr", "end_pos": 355, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr355", "evidence": [ { "id": "", "database": "GlyGen", "url": "https://data.glygen.org/" } ] } ] } ], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "F1R5S7-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "F1R5S7", "url": "https://www.uniprot.org/uniprotkb/F1R5S7" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 371, "chemical_mass": 40382.0, "gene_names": "foxd3;fkd-6;fkd6;fkh6;forkhead-6;foxd3;zgc:111934", "protein_name": "Forkhead box protein D3", "disease": [ { "disease_id": "DOID:12306", "name": "vitiligo", "description": "An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.", "url": "https://disease-ontology.org/term/DOID:12306", "evidence": [ { "id": "12306", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12306" } ], "weight": 0.0 }, { "disease_id": "DOID:1686", "name": "glaucoma", "description": "An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function.", "url": "https://disease-ontology.org/term/DOID:1686", "evidence": [ { "id": "1686", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1686" } ], "weight": 0.0 } ], "biological_process": [ { "name": "enteric nervous system development", "id": "GO:0048484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048484", "evidence": [ { "database": "UniProtKB", "id": "F1R5S7", "url": "https://www.uniprot.org/uniprotkb/F1R5S7" } ], "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": "F1R5S7", "url": "https://www.uniprot.org/uniprotkb/F1R5S7" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "F1R5S7", "url": "https://www.uniprot.org/uniprotkb/F1R5S7" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "F1R5S7", "url": "https://www.uniprot.org/uniprotkb/F1R5S7" } ], "pmid": "" }, { "name": "negative regulation of DNA-templated transcription", "id": "GO:0045892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "F1R5S7", "url": "https://www.uniprot.org/uniprotkb/F1R5S7" } ], "pmid": "" }, { "name": "neural crest cell migration", "id": "GO:0001755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001755", "evidence": [ { "database": "UniProtKB", "id": "F1R5S7", "url": "https://www.uniprot.org/uniprotkb/F1R5S7" } ], "pmid": "" }, { "name": "neural crest cell development", "id": "GO:0014032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014032", "evidence": [ { "database": "UniProtKB", "id": "F1R5S7", "url": "https://www.uniprot.org/uniprotkb/F1R5S7" } ], "pmid": "" }, { "name": "peripheral nervous system development", "id": "GO:0007422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007422", "evidence": [ { "database": "UniProtKB", "id": "F1R5S7", "url": "https://www.uniprot.org/uniprotkb/F1R5S7" } ], "pmid": "" }, { "name": "transcription by RNA polymerase II", "id": "GO:0006366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006366", "evidence": [ { "database": "UniProtKB", "id": "F1R5S7", "url": "https://www.uniprot.org/uniprotkb/F1R5S7" } ], "pmid": "" }, { "name": "response to thyroid hormone", "id": "GO:0097066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097066", "evidence": [ { "database": "UniProtKB", "id": "F1R5S7", "url": "https://www.uniprot.org/uniprotkb/F1R5S7" } ], "pmid": "" }, { "name": "sympathetic nervous system development", "id": "GO:0048485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048485", "evidence": [ { "database": "UniProtKB", "id": "F1R5S7", "url": "https://www.uniprot.org/uniprotkb/F1R5S7" } ], "pmid": "" }, { "name": "cartilage development", "id": "GO:0051216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051216", "evidence": [ { "database": "UniProtKB", "id": "F1R5S7", "url": "https://www.uniprot.org/uniprotkb/F1R5S7" } ], "pmid": "" }, { "name": "cartilage development involved in endochondral bone morphogenesis", "id": "GO:0060351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060351", "evidence": [ { "database": "UniProtKB", "id": "F1R5S7", "url": "https://www.uniprot.org/uniprotkb/F1R5S7" } ], "pmid": "" }, { "name": "anatomical structure morphogenesis", "id": "GO:0009653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009653", "evidence": [ { "database": "UniProtKB", "id": "F1R5S7", "url": "https://www.uniprot.org/uniprotkb/F1R5S7" } ], "pmid": "" }, { "name": "melanocyte differentiation", "id": "GO:0030318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030318", "evidence": [ { "database": "UniProtKB", "id": "F1R5S7", "url": "https://www.uniprot.org/uniprotkb/F1R5S7" } ], "pmid": "" }, { "name": "pigment cell differentiation", "id": "GO:0050931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050931", "evidence": [ { "database": "UniProtKB", "id": "F1R5S7", "url": "https://www.uniprot.org/uniprotkb/F1R5S7" } ], "pmid": "" }, { "name": "iridophore differentiation", "id": "GO:0050935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050935", "evidence": [ { "database": "UniProtKB", "id": "F1R5S7", "url": "https://www.uniprot.org/uniprotkb/F1R5S7" } ], "pmid": "" }, { "name": 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"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": "F1R7F0", "url": "https://www.uniprot.org/uniprotkb/F1R7F0" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "F1R7F0", "url": "https://www.uniprot.org/uniprotkb/F1R7F0" } ], "pmid": "" }, { "name": "cis-regulatory region sequence-specific DNA binding", "id": "GO:0000987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000987", "evidence": [ { "database": "UniProtKB", "id": "F1R7F0", "url": "https://www.uniprot.org/uniprotkb/F1R7F0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", 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"https://www.uniprot.org/uniprotkb/F1RCH4" } ], "pmid": "" }, { "name": "lymphangiogenesis", "id": "GO:0001946", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001946", "evidence": [ { "database": "UniProtKB", "id": "F1RCH4", "url": "https://www.uniprot.org/uniprotkb/F1RCH4" } ], "pmid": "" }, { "name": "tissue regeneration", "id": "GO:0042246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042246", "evidence": [ { "database": "UniProtKB", "id": "F1RCH4", "url": "https://www.uniprot.org/uniprotkb/F1RCH4" } ], "pmid": "" }, { "name": "face morphogenesis", "id": "GO:0060325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060325", "evidence": [ { "database": "UniProtKB", "id": "F1RCH4", "url": "https://www.uniprot.org/uniprotkb/F1RCH4" } ], "pmid": "" }, { "name": "vasculature development", "id": "GO:0001944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001944", "evidence": [ { "database": "UniProtKB", "id": "F1RCH4", "url": "https://www.uniprot.org/uniprotkb/F1RCH4" } ], "pmid": "" }, { "name": "endocrine pancreas development", "id": "GO:0031018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031018", "evidence": [ { "database": "UniProtKB", "id": "F1RCH4", "url": "https://www.uniprot.org/uniprotkb/F1RCH4" } ], "pmid": "" }, { "name": "neuron development", "id": "GO:0048666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048666", "evidence": [ { "database": "UniProtKB", "id": "F1RCH4", "url": "https://www.uniprot.org/uniprotkb/F1RCH4" } ], "pmid": "" }, { "name": "regulation of non-canonical NF-kappaB signal transduction", "id": "GO:1901222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901222", "evidence": [ { "database": "UniProtKB", "id": "F1RCH4", "url": "https://www.uniprot.org/uniprotkb/F1RCH4" } ], "pmid": "" }, { "name": "embryonic organ development", "id": "GO:0048568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048568", "evidence": [ { "database": "UniProtKB", "id": "F1RCH4", "url": "https://www.uniprot.org/uniprotkb/F1RCH4" } ], "pmid": "" }, { 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epithelium in any site of the intrahepatic biliary tree.", "url": "https://disease-ontology.org/term/DOID:4928", "evidence": [ { "id": "4928", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4928" } ], "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:5199", "name": "ureteral obstruction", "description": "An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder.", "url": "https://disease-ontology.org/term/DOID:5199", "evidence": [ { "id": "5199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5199" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID: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", 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"url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:8283", "name": "peritonitis", "description": "A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. 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exclusively or predominantly affecting the sensory neurons, and variable autonomic dysfunction that has_material_basis_in an inherited mutation. Loss of pain and temperature sensation is an early and predominant, but not universal, symptom.", "url": "https://disease-ontology.org/term/DOID:0050548", "evidence": [ { "id": "0050548", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050548" } ], "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:0070146", "name": "congenital insensitivity to pain with anhidrosis", "description": "A hereditary sensory and autonomic neuropathy characterized by insensitivity to pain and anhidrosis that has_material_basis_in homozygous or compound heterozygous mutation in the NTRK1 gene on chromosome 1q23.", "url": "https://disease-ontology.org/term/DOID:0070146", "evidence": [ { "id": "0070146", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070146" } ], "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: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:13406", "name": "pulmonary sarcoidosis", "description": "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.", "url": "https://disease-ontology.org/term/DOID:13406", "evidence": [ { "id": "13406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13406" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:4483", "name": "rhinitis", "description": "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.", "url": "https://disease-ontology.org/term/DOID:4483", "evidence": [ { "id": "4483", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4483" } ], "weight": 0.0 }, { "disease_id": "DOID: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:769", "name": "neuroblastoma", "description": "An autonomic nervous system neoplasm that derives_from immature nerve cells.", "url": "https://disease-ontology.org/term/DOID:769", "evidence": [ { "id": "769", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:769" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "neurotrophin binding", "id": "GO:0043121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043121", "evidence": [ { "database": "UniProtKB", "id": "F6P1M3", "url": "https://www.uniprot.org/uniprotkb/F6P1M3" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "F6P1M3", "url": "https://www.uniprot.org/uniprotkb/F6P1M3" } ], "pmid": "" }, { "name": "transmembrane receptor protein tyrosine kinase activity", "id": "GO:0004714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004714", "evidence": [ { "database": "UniProtKB", "id": "F6P1M3", "url": "https://www.uniprot.org/uniprotkb/F6P1M3" } ], "pmid": "" }, { "name": "neurotrophin receptor activity", "id": "GO:0005030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005030", "evidence": [ { "database": "UniProtKB", "id": "F6P1M3", "url": "https://www.uniprot.org/uniprotkb/F6P1M3" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "F6P1M3", "url": "https://www.uniprot.org/uniprotkb/F6P1M3" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "F6P1M3", "url": "https://www.uniprot.org/uniprotkb/F6P1M3" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "F6P1M3", "url": "https://www.uniprot.org/uniprotkb/F6P1M3" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "F6P1M3", "url": "https://www.uniprot.org/uniprotkb/F6P1M3" } ], "pmid": "" } ], "biological_process": [ { "name": "cell surface receptor protein tyrosine kinase signaling pathway", "id": "GO:0007169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007169", "evidence": [ { "database": "UniProtKB", "id": "F6P1M3", "url": "https://www.uniprot.org/uniprotkb/F6P1M3" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "F6P1M3", "url": "https://www.uniprot.org/uniprotkb/F6P1M3" } ], "pmid": "" }, { "name": "positive regulation of neuron projection development", "id": "GO:0010976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010976", "evidence": [ { "database": "UniProtKB", "id": "F6P1M3", "url": "https://www.uniprot.org/uniprotkb/F6P1M3" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "F6P1M3", "url": "https://www.uniprot.org/uniprotkb/F6P1M3" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "F6P1M3", "url": "https://www.uniprot.org/uniprotkb/F6P1M3" } ], "pmid": "" }, { "name": "cellular response to nerve growth factor stimulus", "id": "GO:1990090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990090", "evidence": [ { "database": "UniProtKB", "id": "F6P1M3", "url": "https://www.uniprot.org/uniprotkb/F6P1M3" } ], "pmid": "" }, { "name": "neutrophil mediated immunity", "id": "GO:0002446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002446", "evidence": [ { "database": "UniProtKB", "id": "F6P1M3", "url": "https://www.uniprot.org/uniprotkb/F6P1M3" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "F6P1M3", "url": "https://www.uniprot.org/uniprotkb/F6P1M3" } ], "pmid": "" }, { "name": "nerve growth factor signaling pathway", "id": "GO:0038180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038180", "evidence": [ { "database": "UniProtKB", "id": "F6P1M3", "url": "https://www.uniprot.org/uniprotkb/F6P1M3" } ], "pmid": "" }, { "name": "inflammatory response to wounding", "id": "GO:0090594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090594", "evidence": [ { "database": "UniProtKB", "id": "F6P1M3", "url": "https://www.uniprot.org/uniprotkb/F6P1M3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "F8W289-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "F8W289", "url": "https://www.uniprot.org/uniprotkb/F8W289" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 330, "chemical_mass": 38110.0, "gene_names": "b3gat3;CHUNP6865;b3gat3;fe01c06;wu:fe01c06;zgc:112070", "protein_name": "Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase", "disease": [ { "disease_id": "DOID:0080575", "name": "Larsen-like syndrome B3GAT3 type", "description": "A syndrome that is characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations and has_material_basis_in homozygous mutation in the B3GAT3 gene on chromosome 11q12.", "url": "https://disease-ontology.org/term/DOID:0080575", "evidence": [ { "id": "0080575", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080575" } ], "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": "F8W289", "url": "https://www.uniprot.org/uniprotkb/F8W289" } ], "pmid": "" } ], "biological_process": [ { "name": "extracellular matrix organization", "id": "GO:0030198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", "evidence": [ { "database": "UniProtKB", "id": "F8W289", "url": "https://www.uniprot.org/uniprotkb/F8W289" } ], "pmid": "" }, { "name": "carbohydrate metabolic process", "id": "GO:0005975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005975", "evidence": [ { "database": "UniProtKB", "id": "F8W289", "url": "https://www.uniprot.org/uniprotkb/F8W289" } ], "pmid": "" }, { "name": "cartilage development", "id": "GO:0051216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051216", "evidence": [ { "database": "UniProtKB", "id": "F8W289", "url": "https://www.uniprot.org/uniprotkb/F8W289" } ], "pmid": "" }, { "name": "heparan sulfate proteoglycan biosynthetic process", "id": "GO:0015012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015012", "evidence": [ { "database": "UniProtKB", "id": "F8W289", "url": "https://www.uniprot.org/uniprotkb/F8W289" } ], "pmid": "" }, { "name": "chondroitin sulfate proteoglycan biosynthetic process", "id": "GO:0050650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050650", "evidence": [ { "database": "UniProtKB", "id": "F8W289", "url": "https://www.uniprot.org/uniprotkb/F8W289" } ], "pmid": "" }, { "name": "proteoglycan biosynthetic process", "id": "GO:0030166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030166", "evidence": [ { "database": "UniProtKB", "id": "F8W289", "url": "https://www.uniprot.org/uniprotkb/F8W289" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "F8W289", "url": "https://www.uniprot.org/uniprotkb/F8W289" } ], "pmid": "" }, { "name": "galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity", "id": "GO:0015018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015018", "evidence": [ { "database": "UniProtKB", "id": "F8W289", "url": "https://www.uniprot.org/uniprotkb/F8W289" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "F8W2M1-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "F8W2M1", "url": "https://www.uniprot.org/uniprotkb/F8W2M1" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 904, "chemical_mass": 102165.0, "gene_names": "hace1;si:ch73-97e20.2", "protein_name": "E3 ubiquitin-protein ligase HACE1", "disease": [], "biological_process": [ { "name": "negative regulation of reactive oxygen species biosynthetic process", "id": "GO:1903427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903427", "evidence": [ { "database": "UniProtKB", "id": "F8W2M1", "url": "https://www.uniprot.org/uniprotkb/F8W2M1" } ], "pmid": "" }, { "name": "cardiac ventricle morphogenesis", "id": "GO:0003208", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003208", "evidence": [ { "database": "UniProtKB", "id": "F8W2M1", "url": "https://www.uniprot.org/uniprotkb/F8W2M1" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "F8W2M1", "url": "https://www.uniprot.org/uniprotkb/F8W2M1" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "F8W2M1", "url": "https://www.uniprot.org/uniprotkb/F8W2M1" } ], "pmid": "" }, { "name": "membrane fusion", "id": "GO:0061025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061025", "evidence": [ { "database": "UniProtKB", "id": "F8W2M1", "url": "https://www.uniprot.org/uniprotkb/F8W2M1" } ], "pmid": "" }, { "name": "heart looping", "id": "GO:0001947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001947", "evidence": [ { "database": "UniProtKB", "id": "F8W2M1", "url": "https://www.uniprot.org/uniprotkb/F8W2M1" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "F8W2M1", "url": "https://www.uniprot.org/uniprotkb/F8W2M1" } ], "pmid": "" }, { "name": "protein K48-linked ubiquitination", "id": "GO:0070936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070936", "evidence": [ { "database": "UniProtKB", "id": "F8W2M1", "url": "https://www.uniprot.org/uniprotkb/F8W2M1" } ], "pmid": "" }, { "name": "Golgi organization", "id": "GO:0007030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007030", "evidence": [ { "database": "UniProtKB", "id": "F8W2M1", "url": "https://www.uniprot.org/uniprotkb/F8W2M1" } ], "pmid": "" }, { "name": "atrioventricular valve formation", "id": "GO:0003190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003190", "evidence": [ { "database": "UniProtKB", "id": "F8W2M1", "url": "https://www.uniprot.org/uniprotkb/F8W2M1" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "F8W2M1", "url": "https://www.uniprot.org/uniprotkb/F8W2M1" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "F8W2M1", "url": "https://www.uniprot.org/uniprotkb/F8W2M1" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": 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"evidence": [ { "database": "UniProtKB", "id": "O42358", "url": "https://www.uniprot.org/uniprotkb/O42358" } ], "pmid": "" }, { "name": "camera-type eye morphogenesis", "id": "GO:0048593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048593", "evidence": [ { "database": "UniProtKB", "id": "O42358", "url": "https://www.uniprot.org/uniprotkb/O42358" } ], "pmid": "" }, { "name": "hypothalamus development", "id": "GO:0021854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021854", "evidence": [ { "database": "UniProtKB", "id": "O42358", "url": "https://www.uniprot.org/uniprotkb/O42358" } ], "pmid": "" }, { "name": "eye development", "id": "GO:0001654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001654", "evidence": [ { "database": "UniProtKB", "id": "O42358", "url": "https://www.uniprot.org/uniprotkb/O42358" } ], "pmid": "" }, { "name": "embryonic camera-type eye morphogenesis", "id": "GO:0048596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048596", "evidence": [ { "database": "UniProtKB", "id": "O42358", "url": "https://www.uniprot.org/uniprotkb/O42358" } ], "pmid": "" }, { "name": "eye field cell fate commitment involved in camera-type eye formation", "id": "GO:0060898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060898", "evidence": [ { "database": "UniProtKB", "id": "O42358", "url": "https://www.uniprot.org/uniprotkb/O42358" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O42358", "url": "https://www.uniprot.org/uniprotkb/O42358" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "O42358", "url": "https://www.uniprot.org/uniprotkb/O42358" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "O42358", "url": "https://www.uniprot.org/uniprotkb/O42358" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "O42363-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "O42363", "url": "https://www.uniprot.org/uniprotkb/O42363" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 262, "chemical_mass": 30256.0, "gene_names": "apoa1a;Apo-AIa;ApoA-Ia;apoa1a;apoa1;apoa;cb49;wu:fb33f01;zgc:103718", "protein_name": "Apolipoprotein A-Ia", "disease": [ { "disease_id": "DOID:0050156", "name": "idiopathic pulmonary fibrosis", "description": "A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs 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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: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:11512", "name": "Budd-Chiari syndrome", "description": "A hepatic vascular disease that is characterized by a spectrum of disease states, including anatomic abnormalities and hypercoagulable disorders, resulting in hepatic venous outflow occlusion.", "url": "https://disease-ontology.org/term/DOID:11512", "evidence": [ { "id": "11512", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11512" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:1387", "name": "hypolipoproteinemia", "description": "A lipid metabolism disorder that is characterized by unusually low levels of fats in the blood.", "url": "https://disease-ontology.org/term/DOID:1387", "evidence": [ { "id": "1387", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1387" } ], "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:1470", "name": "major 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"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. 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Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4947", "evidence": [ { "id": "4947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4947" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:5409", "evidence": [ { "id": "5409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5409" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:687", "name": "hepatoblastoma", "description": "", "url": "https://disease-ontology.org/term/DOID:687", "evidence": [ { "id": "687", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:687" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:7998", "name": "hyperthyroidism", "description": "A thyroid gland disease that involves an over production of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:7998", "evidence": [ { "id": "7998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7998" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9282", "name": "ocular hypertension", "description": "An eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss.", "url": "https://disease-ontology.org/term/DOID:9282", "evidence": [ { "id": "9282", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9282" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID: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": [ { 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"https://www.uniprot.org/uniprotkb/O42363" } ], "pmid": "" }, { "name": "phospholipid binding", "id": "GO:0005543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005543", "evidence": [ { "database": "UniProtKB", "id": "O42363", "url": "https://www.uniprot.org/uniprotkb/O42363" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "O42363", "url": "https://www.uniprot.org/uniprotkb/O42363" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "O42363", "url": "https://www.uniprot.org/uniprotkb/O42363" } ], "pmid": "" }, { "name": "high-density lipoprotein particle binding", "id": "GO:0008035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008035", "evidence": [ { "database": "UniProtKB", "id": "O42363", "url": "https://www.uniprot.org/uniprotkb/O42363" } ], "pmid": "" }, { "name": "phosphatidylcholine-sterol O-acyltransferase activator activity", "id": "GO:0060228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060228", "evidence": [ { "database": "UniProtKB", "id": "O42363", "url": "https://www.uniprot.org/uniprotkb/O42363" } ], "pmid": "" }, { "name": "cholesterol transfer activity", "id": "GO:0120020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120020", "evidence": [ { "database": "UniProtKB", "id": "O42363", "url": "https://www.uniprot.org/uniprotkb/O42363" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "O42363", "url": "https://www.uniprot.org/uniprotkb/O42363" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "O42363", "url": "https://www.uniprot.org/uniprotkb/O42363" } ], "pmid": "" }, { "name": "high-density lipoprotein particle", "id": "GO:0034364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034364", "evidence": [ { "database": "UniProtKB", "id": "O42363", "url": "https://www.uniprot.org/uniprotkb/O42363" } ], "pmid": "" }, { "name": "very-low-density lipoprotein particle", "id": "GO:0034361", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034361", "evidence": [ { "database": "UniProtKB", "id": "O42363", "url": "https://www.uniprot.org/uniprotkb/O42363" } ], "pmid": "" }, { "name": "chylomicron", "id": "GO:0042627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042627", "evidence": [ { "database": "UniProtKB", "id": "O42363", "url": "https://www.uniprot.org/uniprotkb/O42363" } ], "pmid": "" }, { "name": "low-density lipoprotein particle", "id": "GO:0034362", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034362", "evidence": [ { "database": "UniProtKB", "id": "O42363", "url": 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"https://www.uniprot.org/uniprotkb/O42363" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "O42364-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "O42364", "url": "https://www.uniprot.org/uniprotkb/O42364" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 281, "chemical_mass": 31674.0, "gene_names": "apoeb;apoeb;apoe;cb82;hm:zeh1311;wu:fa03d06;wu:fa97a11;wu:fc95h12;wu:fj54e06;zeh1311", "protein_name": "Apolipoprotein Eb", "disease": [ { "disease_id": "DOID:0050639", "name": "primary cutaneous amyloidosis", "description": "An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis.", "url": "https://disease-ontology.org/term/DOID:0050639", "evidence": [ { "id": "0050639", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050639" } ], "weight": 0.0 }, { "disease_id": "DOID:0050851", "name": "glomerulosclerosis", "description": "A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney.", "url": "https://disease-ontology.org/term/DOID:0050851", "evidence": [ { "id": "0050851", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050851" } ], "weight": 0.0 }, { "disease_id": "DOID:0051064", "name": "left ventricular failure", "description": "A congestive heart failure that is characterized by dysfunction of the left ventricle, resulting insufficient delivery of blood to vital organs.", "url": "https://disease-ontology.org/term/DOID:0051064", "evidence": [ { "id": "0051064", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051064" } ], "weight": 0.0 }, { "disease_id": "DOID:0080158", "name": "herpes simplex virus keratitis", "description": "A keratitis that has_material_basis_in herpes 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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: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": 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"https://disease-ontology.org/term/DOID:10003", "evidence": [ { "id": "10003", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10003" } ], "weight": 0.0 }, { "disease_id": "DOID:10211", "name": "cholelithiasis", "description": "", "url": "https://disease-ontology.org/term/DOID:10211", "evidence": [ { "id": "10211", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10211" } ], "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:1067", "name": "open-angle glaucoma", "description": "A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage.", "url": "https://disease-ontology.org/term/DOID:1067", "evidence": [ { "id": "1067", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1067" } ], "weight": 0.0 }, { "disease_id": "DOID: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:10976", "name": "membranous glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:10976", "evidence": [ { "id": "10976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10976" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies.", "url": "https://disease-ontology.org/term/DOID:12217", "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ], "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: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: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:13544", "name": "low tension glaucoma", "description": "An open-angle glaucoma characterized by increased intrinsic resistance to aqueous outflow without known secondary causes, an anatomically narrow anterior chamber angle, or elevated intraocular pressure compared to the average population. Normal tension glaucoma has_symptom progressive decreased vision and progressive loss of peripheral vision.", "url": "https://disease-ontology.org/term/DOID:13544", "evidence": [ { "id": "13544", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13544" } ], "weight": 0.0 }, { "disease_id": "DOID:13550", "name": "angle-closure glaucoma", "description": "A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis.", "url": "https://disease-ontology.org/term/DOID:13550", "evidence": [ { "id": "13550", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13550" } ], "weight": 0.0 }, { "disease_id": "DOID:13580", "name": "cholestasis", "description": "A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum.", "url": "https://disease-ontology.org/term/DOID:13580", "evidence": [ { "id": "13580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13580" } ], "weight": 0.0 }, { "disease_id": "DOID:13641", "name": "exfoliation syndrome", "description": "A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures.", "url": "https://disease-ontology.org/term/DOID:13641", "evidence": [ { "id": "13641", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13641" } ], "weight": 0.0 }, { "disease_id": "DOID:13809", "name": "familial combined hyperlipidemia", "description": "", "url": "https://disease-ontology.org/term/DOID:13809", "evidence": [ { "id": "13809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13809" } ], "weight": 0.0 }, { "disease_id": "DOID: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:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:1459", "evidence": [ { "id": "1459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1920", "name": "hyperuricemia", "description": "An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood.", "url": "https://disease-ontology.org/term/DOID:1920", "evidence": [ { "id": "1920", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1920" } ], "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: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: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:3145", "name": "hyperlipoproteinemia type III", "description": "A familial hyperlipidemia that has_material_basis_in by homozygous, compound heterozygous, or heterozygous mutation in the APOE gene on chromosome 19q13.", "url": "https://disease-ontology.org/term/DOID:3145", "evidence": [ { "id": "3145", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3145" } ], "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: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: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: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: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: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:4423", "name": "sea-blue histiocytosis", "description": "A sphingolipidosis characterized by dysfunctional metabolism of sphingolipids.", "url": "https://disease-ontology.org/term/DOID:4423", "evidence": [ { "id": "4423", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4423" } ], "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:4606", "name": "bile duct cancer", "description": "A biliary tract cancer that is located_in the bile duct.", "url": "https://disease-ontology.org/term/DOID:4606", "evidence": [ { "id": "4606", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4606" } ], "weight": 0.0 }, { "disease_id": "DOID:5679", "name": "retinal disease", "description": "An eye disease that is located_in the retina.", "url": "https://disease-ontology.org/term/DOID:5679", "evidence": [ { "id": "5679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5679" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": 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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:8566", "name": "herpes simplex", "description": "A viral infectious disease that results_in_formation_of lesions, located_in mouth, located_in face, located_in genitalia, or located_in hands, has_material_basis_in Human herpesvirus 1 (Simplexvirus humanalpha1) or 2 (Simplexvirus humanalpha2), which are transmitted_by direct contact with an active lesion or body fluid of an infected person.", "url": "https://disease-ontology.org/term/DOID:8566", "evidence": [ { "id": "8566", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8566" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery 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carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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 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"extracellular vesicle", "id": "GO:1903561", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903561", "evidence": [ { "database": "UniProtKB", "id": "O42364", "url": "https://www.uniprot.org/uniprotkb/O42364" } ], "pmid": "" } ], "biological_process": [ { "name": "cholesterol metabolic process", "id": "GO:0008203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008203", "evidence": [ { "database": "UniProtKB", "id": "O42364", "url": "https://www.uniprot.org/uniprotkb/O42364" } ], "pmid": "" }, { "name": "phospholipid efflux", "id": "GO:0033700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033700", "evidence": [ { "database": "UniProtKB", "id": "O42364", "url": "https://www.uniprot.org/uniprotkb/O42364" } ], "pmid": "" }, { "name": "lipoprotein biosynthetic process", "id": "GO:0042158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042158", "evidence": [ { "database": "UniProtKB", "id": "O42364", "url": "https://www.uniprot.org/uniprotkb/O42364" } ], "pmid": "" }, { "name": 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"chylomicron remnant clearance", "id": "GO:0034382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034382", "evidence": [ { "database": "UniProtKB", "id": "O42364", "url": "https://www.uniprot.org/uniprotkb/O42364" } ], "pmid": "" }, { "name": "triglyceride-rich lipoprotein particle clearance", "id": "GO:0071830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071830", "evidence": [ { "database": "UniProtKB", "id": "O42364", "url": "https://www.uniprot.org/uniprotkb/O42364" } ], "pmid": "" }, { "name": "intermediate-density lipoprotein particle clearance", "id": "GO:0071831", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071831", "evidence": [ { "database": "UniProtKB", "id": "O42364", "url": "https://www.uniprot.org/uniprotkb/O42364" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "O42606-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "O42606", "url": "https://www.uniprot.org/uniprotkb/O42606" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 208, "chemical_mass": 22911.0, "gene_names": "neurog1;NGN-1;Zath4c;cb260;chunp6899;neurod3;neurog1;ngn1;ngr1;zNgn1", "protein_name": "Neurogenin-1", "disease": [], "biological_process": [ { "name": "dorsal spinal cord development", "id": "GO:0021516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021516", "evidence": [ { "database": "UniProtKB", "id": "O42606", "url": "https://www.uniprot.org/uniprotkb/O42606" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "O42606", "url": "https://www.uniprot.org/uniprotkb/O42606" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": 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"DOID:0111244", "name": "palmoplantar keratoderma and congenital alopecia 1", "description": "An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that has_material_basis_in heterozygous mutation in GJA1 on 6q22.31.", "url": "https://disease-ontology.org/term/DOID:0111244", "evidence": [ { "id": "0111244", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111244" } ], "weight": 0.0 }, { "disease_id": "DOID:0111817", "name": "syndactyly type 3", "description": "A syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers that has_material_basis_in heterozygous mutation in the GJA1 gene on chromosome 6q22.31.", "url": "https://disease-ontology.org/term/DOID:0111817", "evidence": [ { "id": "0111817", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111817" } ], "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:10914", "name": "amnestic disorder", "description": "A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information.", "url": "https://disease-ontology.org/term/DOID:10914", "evidence": [ { "id": "10914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10914" } ], "weight": 0.0 }, { "disease_id": "DOID:12577", "name": "urethral obstruction", "description": "", "url": "https://disease-ontology.org/term/DOID:12577", "evidence": [ { "id": "12577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12577" } ], "weight": 0.0 }, { "disease_id": "DOID:12858", "name": "Huntington's disease", "description": "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.", "url": "https://disease-ontology.org/term/DOID:12858", "evidence": [ { "id": "12858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12858" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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: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:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:326", "name": "ischemia", "description": "A vascular disease that is characterized by a restriction in blood supply to tissues.", "url": "https://disease-ontology.org/term/DOID:326", "evidence": [ { "id": "326", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:326" } ], "weight": 0.0 }, { "disease_id": "DOID:3390", "name": "palmoplantar keratosis", "description": "A keratosis characterized by abnormal thickening of the palms and the soles.", "url": "https://disease-ontology.org/term/DOID:3390", "evidence": [ { "id": "3390", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3390" } ], "weight": 0.0 }, { "disease_id": "DOID:5154", "name": "borna disease", "description": "A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus (Orthobornavirus bornaense), which is transmitted_by contact with infected oronasal secretions. 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"uniprot_canonical_ac": "O57521-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "O57521", "url": "https://www.uniprot.org/uniprotkb/O57521" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 725, "chemical_mass": 83357.0, "gene_names": "hsp90ab1;hsp90ab1;hsp90beta;hsp90b;hspc3;wu:fa29f01;wu:fa91e11;wu:fd59e11;wu:gcd22h07", "protein_name": "Heat shock protein HSP 90-beta", "disease": [ { "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: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: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:4928", "name": "intrahepatic cholangiocarcinoma", "description": "A cholangiocarcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree.", "url": "https://disease-ontology.org/term/DOID:4928", "evidence": [ { "id": "4928", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4928" } ], "weight": 0.0 }, { "disease_id": "DOID:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas.", "url": "https://disease-ontology.org/term/DOID:4989", "evidence": [ { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" } 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"https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "O57521", "url": "https://www.uniprot.org/uniprotkb/O57521" } ], "pmid": "" }, { "name": "aryl hydrocarbon receptor complex", "id": "GO:0034751", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034751", "evidence": [ { "database": "UniProtKB", "id": "O57521", "url": "https://www.uniprot.org/uniprotkb/O57521" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "O57521", "url": "https://www.uniprot.org/uniprotkb/O57521" } ], "pmid": "" }, { "name": "dynein axonemal particle", "id": "GO:0120293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120293", "evidence": [ { "database": "UniProtKB", "id": "O57521", "url": "https://www.uniprot.org/uniprotkb/O57521" } ], "pmid": "" } ], "biological_process": [ { "name": "cellular response to heat", "id": "GO:0034605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034605", "evidence": [ { "database": "UniProtKB", "id": "O57521", "url": "https://www.uniprot.org/uniprotkb/O57521" } ], "pmid": "" }, { "name": "muscle organ development", "id": "GO:0007517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007517", "evidence": [ { "database": "UniProtKB", "id": "O57521", "url": "https://www.uniprot.org/uniprotkb/O57521" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "O57521", "url": "https://www.uniprot.org/uniprotkb/O57521" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "O57521", "url": "https://www.uniprot.org/uniprotkb/O57521" } ], "pmid": "" }, { "name": "leukocyte migration", "id": "GO:0050900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050900", 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"GO:0032435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032435", "evidence": [ { "database": "UniProtKB", "id": "O57521", "url": "https://www.uniprot.org/uniprotkb/O57521" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "O57521", "url": "https://www.uniprot.org/uniprotkb/O57521" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O57521-1", "start_pos": "225", "end_pos": "225", "site_lbl": "Ser225", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O57521", "url": "https://www.uniprot.org/uniprotkb/O57521" } ] } ] }, { "uniprot_canonical_ac": "O57521-1", "start_pos": "254", "end_pos": "254", "site_lbl": "Ser254", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O57521", "url": "https://www.uniprot.org/uniprotkb/O57521" } ] } ] } ], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "O73872-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "O73872", "url": "https://www.uniprot.org/uniprotkb/O73872" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 154, "chemical_mass": 15953.0, "gene_names": "sod1;Cu/Zn-SOD;ZSOD;cuzn;sod1", "protein_name": "Superoxide dismutase [Cu-Zn]", "disease": [ { "disease_id": "DOID:0060193", "name": "amyotrophic lateral sclerosis type 1", "description": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SOD1 gene on chromosome 21. 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"13241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ], "weight": 0.0 }, { "disease_id": "DOID:13544", "name": "low tension glaucoma", "description": "An open-angle glaucoma characterized by increased intrinsic resistance to aqueous outflow without known secondary causes, an anatomically narrow anterior chamber angle, or elevated intraocular pressure compared to the average population. 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"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:2972", "name": "renal artery obstruction", "description": "", "url": "https://disease-ontology.org/term/DOID:2972", "evidence": [ { "id": "2972", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2972" } ], "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: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: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:3827", "name": "congenital diaphragmatic hernia", "description": "A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs.", "url": "https://disease-ontology.org/term/DOID:3827", "evidence": [ { "id": "3827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3827" } ], "weight": 0.0 }, { "disease_id": "DOID:4195", "name": "hyperglycemia", "description": "", "url": "https://disease-ontology.org/term/DOID:4195", "evidence": [ { "id": "4195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4195" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5113", "name": "nutritional deficiency disease", "description": "A nutrition disease that is characterized by deficiency of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content.", "url": "https://disease-ontology.org/term/DOID:5113", "evidence": [ { "id": "5113", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5113" } ], "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:649", "name": "prion disease", "description": "A brain disease that is characterized by brain damage resulting from the abnormal folding, clumping and accumulation of cellular proteins in the brain induced by prion proteins.", "url": 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"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", 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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": 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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 }, { 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} ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "P57095-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "P57095", "url": "https://www.uniprot.org/uniprotkb/P57095" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 812, "chemical_mass": 91497.0, "gene_names": "axin2;axil;axin2;wu:fb37c08;zgc:111942", "protein_name": "Axin-2", "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:0050567", "name": "orofacial cleft", "description": "A physical disorder that 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"https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q08BI9", "url": "https://www.uniprot.org/uniprotkb/Q08BI9" } ], "pmid": "" }, { "name": "uniporter activity", "id": "GO:0015292", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015292", "evidence": [ { "database": "UniProtKB", "id": "Q08BI9", "url": "https://www.uniprot.org/uniprotkb/Q08BI9" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q08BI9", "url": "https://www.uniprot.org/uniprotkb/Q08BI9" } ], "pmid": "" }, { "name": "calcium channel complex", "id": "GO:0034704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034704", "evidence": [ { "database": "UniProtKB", "id": "Q08BI9", "url": "https://www.uniprot.org/uniprotkb/Q08BI9" } ], "pmid": "" }, { "name": "uniplex complex", "id": "GO:1990246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990246", "evidence": [ { "database": "UniProtKB", "id": "Q08BI9", "url": "https://www.uniprot.org/uniprotkb/Q08BI9" } ], "pmid": "" } ], "biological_process": [ { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "Q08BI9", "url": "https://www.uniprot.org/uniprotkb/Q08BI9" } ], "pmid": "" }, { "name": "calcium-mediated signaling", "id": "GO:0019722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019722", "evidence": [ { "database": "UniProtKB", "id": "Q08BI9", "url": "https://www.uniprot.org/uniprotkb/Q08BI9" } ], "pmid": "" }, { "name": "positive regulation of insulin secretion", "id": "GO:0032024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032024", "evidence": [ { "database": "UniProtKB", "id": "Q08BI9", "url": "https://www.uniprot.org/uniprotkb/Q08BI9" } ], "pmid": "" }, { "name": "protein complex oligomerization", "id": "GO:0051259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051259", "evidence": [ { "database": "UniProtKB", "id": "Q08BI9", "url": "https://www.uniprot.org/uniprotkb/Q08BI9" } ], "pmid": "" }, { "name": "regulation of heart contraction", "id": "GO:0008016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008016", "evidence": [ { "database": "UniProtKB", "id": "Q08BI9", "url": "https://www.uniprot.org/uniprotkb/Q08BI9" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "Q08BI9", "url": "https://www.uniprot.org/uniprotkb/Q08BI9" } ], "pmid": "" }, { "name": "mitochondrial calcium ion transmembrane transport", "id": "GO:0006851", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006851", "evidence": [ { "database": "UniProtKB", "id": "Q08BI9", "url": "https://www.uniprot.org/uniprotkb/Q08BI9" } ], "pmid": "" }, { "name": "calcium import into the mitochondrion", "id": "GO:0036444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036444", "evidence": [ { "database": "UniProtKB", "id": "Q08BI9", "url": "https://www.uniprot.org/uniprotkb/Q08BI9" } ], "pmid": "" }, { "name": "mitochondrial calcium ion homeostasis", "id": "GO:0051560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051560", "evidence": [ { "database": "UniProtKB", "id": "Q08BI9", "url": "https://www.uniprot.org/uniprotkb/Q08BI9" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial calcium ion concentration", "id": "GO:0051561", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051561", "evidence": [ { "database": "UniProtKB", "id": "Q08BI9", "url": "https://www.uniprot.org/uniprotkb/Q08BI9" } ], "pmid": "" }, { "name": "chordate embryonic development", "id": "GO:0043009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043009", "evidence": [ { "database": "UniProtKB", "id": "Q08BI9", "url": "https://www.uniprot.org/uniprotkb/Q08BI9" } ], "pmid": "" }, { "name": "convergent extension involved in gastrulation", "id": "GO:0060027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060027", "evidence": [ { "database": "UniProtKB", "id": "Q08BI9", "url": "https://www.uniprot.org/uniprotkb/Q08BI9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "Q08BS4-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q08BS4", "url": "https://www.uniprot.org/uniprotkb/Q08BS4" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 760, "chemical_mass": 87145.0, "gene_names": "ezh2;eya2;ezh2;im:7149338;zgc:136376;zgc:152758", "protein_name": "Histone-lysine N-methyltransferase EZH2", "disease": [ { "disease_id": "DOID:0050745", "name": "diffuse large B-cell lymphoma", "description": "A large B-cell lymphoma that is consisting of medium-sized to large B cells with a diffuse growth pattern.", "url": "https://disease-ontology.org/term/DOID:0050745", "evidence": [ { "id": "0050745", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050745" } ], "weight": 0.0 }, { "disease_id": "DOID:0050860", "name": "colorectal adenoma", "description": "An intestinal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin and is located_in colon and located_in rectum.", "url": "https://disease-ontology.org/term/DOID:0050860", "evidence": [ { "id": "0050860", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050860" } ], "weight": 0.0 }, { "disease_id": "DOID:0050861", "name": "colorectal adenocarcinoma", "description": "A colorectal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:0050861", "evidence": [ { "id": "0050861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050861" } ], "weight": 0.0 }, { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID:0050888", "name": "syndromic intellectual disability", "description": "An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms.", "url": "https://disease-ontology.org/term/DOID:0050888", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ], "weight": 0.0 }, { "disease_id": "DOID:0050908", "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:0080188", "name": "chronic myelomonocytic leukemia", "description": "A chronic leukemia characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood.", "url": "https://disease-ontology.org/term/DOID:0080188", "evidence": [ { "id": "0080188", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080188" } ], "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 }, { 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It usually involves bones and less frequently extraosseous sites. 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"https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4971", "name": "myelofibrosis", "description": "A myeloid neoplasm that is located in the bone marrow which results in bone marrow being replaced by fibrous (scar) tissue.", "url": "https://disease-ontology.org/term/DOID:4971", "evidence": [ { "id": "4971", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4971" } ], "weight": 0.0 }, { "disease_id": "DOID:5176", "name": "renal Wilms' tumor", "description": "", "url": "https://disease-ontology.org/term/DOID:5176", "evidence": [ { "id": "5176", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5176" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:707", "name": "B-cell lymphoma", "description": "A non-Hodgkin lymphoma that has_material_basis_in B cells.", "url": "https://disease-ontology.org/term/DOID:707", "evidence": [ { "id": "707", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:707" } ], "weight": 0.0 }, { "disease_id": "DOID:7474", "name": "malignant pleural mesothelioma", "description": "A pleural cancer that has_material_basis_in mesothelium cells.", "url": "https://disease-ontology.org/term/DOID:7474", "evidence": [ { "id": "7474", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7474" } ], "weight": 0.0 }, { "disease_id": "DOID:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", "evidence": [ { "id": "7693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8761", "name": "acute megakaryocytic leukemia", "description": "An acute myeloid leukemia that derives from blood-forming tissue in which megakaryocytes proliferate in the bone marrow and circulate in the blood in large numbers.", "url": "https://disease-ontology.org/term/DOID:8761", "evidence": [ { "id": "8761", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8761" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the 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"ubiquitin-like ligase-substrate adaptor activity", "id": "GO:1990756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990756", "evidence": [ { "database": "UniProtKB", "id": "Q1ECZ2", "url": "https://www.uniprot.org/uniprotkb/Q1ECZ2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q1ECZ2-1", "start_pos": "264", "end_pos": "264", "site_lbl": "Cys264", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Abolishes repression of nfe2l2/nrf2-dependent gene expression.", "evidence": [ { "database": "UniProtKB", "id": "Q1ECZ2", "url": "https://www.uniprot.org/uniprotkb/Q1ECZ2" }, { "database": "PubMed", "id": "18057000", "url": "https://glygen.org/publication/PubMed/18057000" } ] } ] } ], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "Q1JPY5-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q1JPY5", "url": "https://www.uniprot.org/uniprotkb/Q1JPY5" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 499, "chemical_mass": 57001.0, "gene_names": "cyp51;LDM;cyp51;wu:fb66a09", "protein_name": "Lanosterol 14-alpha demethylase", "disease": [ { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in 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"GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "Q1JPY5", "url": "https://www.uniprot.org/uniprotkb/Q1JPY5" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q1JPY5", "url": "https://www.uniprot.org/uniprotkb/Q1JPY5" } ], "pmid": "" }, { "name": "sterol 14-demethylase activity", "id": "GO:0008398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008398", "evidence": [ { "database": "UniProtKB", "id": "Q1JPY5", "url": "https://www.uniprot.org/uniprotkb/Q1JPY5" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q1JPY5", "url": "https://www.uniprot.org/uniprotkb/Q1JPY5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], 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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:0080750", "name": "erythema nodosum", "description": "A panniculitis that is characterized by sudden onset of painful, erythematous, subcutaneous nodules mainly localized to the pretibial areas. Lesions are usually bilateral and symmetrical, ranging from 1 to 5 cm in diameter.", "url": "https://disease-ontology.org/term/DOID:0080750", "evidence": [ { "id": "0080750", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080750" } ], "weight": 0.0 }, { "disease_id": "DOID:0080884", "name": "vitamin D-dependent rickets type 2A", "description": "A vitamin D-dependent rickets that is characterized by abnormally high levels of calcitriol and that has_material_basis_in mutation in the gene encoding the vitamin D receptor (VDR) on chromosome 12q.", "url": "https://disease-ontology.org/term/DOID:0080884", "evidence": [ { "id": "0080884", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080884" } ], "weight": 0.0 }, { "disease_id": "DOID:0110276", "name": "autosomal recessive limb-girdle muscular dystrophy type 2B", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13.", "url": "https://disease-ontology.org/term/DOID:0110276", "evidence": [ { "id": "0110276", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110276" } ], "weight": 0.0 }, { "disease_id": "DOID:10123", "name": "pigmentation disease", "description": "A skin disease that is characterized by discoloration of the skin.", "url": "https://disease-ontology.org/term/DOID:10123", "evidence": [ { "id": "10123", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10123" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:10609", "name": "rickets", "description": "A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone.", "url": "https://disease-ontology.org/term/DOID:10609", "evidence": [ { "id": "10609", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10609" } ], "weight": 0.0 }, { "disease_id": "DOID:11202", "name": "primary hyperparathyroidism", "description": "A hyperparathyroidism that is characterized by overproduction of parathyroid hormone and elevated levels of calcium in the blood.", "url": "https://disease-ontology.org/term/DOID:11202", "evidence": [ { "id": "11202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11202" } ], "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: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: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: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:11830", "name": "myopia", "description": "A refractive error characterized by the inability to see farther objects clearly.", "url": "https://disease-ontology.org/term/DOID:11830", "evidence": [ { "id": "11830", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11830" } ], "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:12306", "name": "vitiligo", "description": "An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.", "url": "https://disease-ontology.org/term/DOID:12306", "evidence": [ { "id": "12306", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12306" } ], "weight": 0.0 }, { "disease_id": "DOID:12361", "name": "Graves' disease", "description": "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.", "url": "https://disease-ontology.org/term/DOID:12361", "evidence": [ { "id": "12361", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12361" } ], "weight": 0.0 }, { "disease_id": "DOID:12466", "name": "secondary hyperparathyroidism", "description": "", "url": "https://disease-ontology.org/term/DOID:12466", "evidence": [ { "id": "12466", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12466" } ], "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:13976", "name": "peptic esophagitis", "description": "", "url": "https://disease-ontology.org/term/DOID:13976", "evidence": [ { "id": "13976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13976" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1712", "name": "aortic valve stenosis", "description": "An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening.", "url": "https://disease-ontology.org/term/DOID:1712", "evidence": [ { "id": "1712", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1712" } ], "weight": 0.0 }, { "disease_id": "DOID:1749", "name": "squamous cell carcinoma", "description": "A carcinoma that derives_from squamous epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1749", "evidence": [ { "id": "1749", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1749" } ], "weight": 0.0 }, { "disease_id": "DOID:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.", "url": "https://disease-ontology.org/term/DOID:1909", "evidence": [ { "id": "1909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID:2048", "name": "autoimmune hepatitis", "description": "An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells.", "url": "https://disease-ontology.org/term/DOID:2048", "evidence": [ { "id": "2048", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2048" } ], "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:2513", "name": "basal cell carcinoma", "description": "A skin carcinoma affecting basal cells.", "url": "https://disease-ontology.org/term/DOID:2513", "evidence": [ { "id": "2513", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2513" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:3491", "name": "Turner syndrome", "description": "A gonadal dysgenesis that is characterized by short stature and early loss of ovarian function resulting from ovarian hypofunction or premature ovarian failure and has_material_basis_in one missing or structurally altered X chromosome.", "url": "https://disease-ontology.org/term/DOID:3491", "evidence": [ { "id": "3491", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3491" } ], "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:4914", "name": "esophagus adenocarcinoma", "description": "An esophageal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4914", "evidence": [ { "id": "4914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4914" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID: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:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:8466", "name": "retinal degeneration", "description": "A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.", "url": "https://disease-ontology.org/term/DOID:8466", "evidence": [ { "id": "8466", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8466" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:9206", "name": "Barrett's esophagus", "description": "An esophageal disease characterized by a change of normal esophageal squamous epithelium to a columnar and intestinal-type epithelium.", "url": "https://disease-ontology.org/term/DOID:9206", "evidence": [ { "id": "9206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9206" } ], "weight": 0.0 }, { "disease_id": "DOID:9446", "name": "cholangitis", "description": "A bile duct disease that is an inflammation of the bile duct.", "url": "https://disease-ontology.org/term/DOID:9446", "evidence": [ { "id": "9446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9446" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:987", "name": "alopecia", "description": "A hypotrichosis that is characterized by a loss of hair from the head or body.", "url": "https://disease-ontology.org/term/DOID:987", "evidence": [ { "id": "987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:987" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "Q1L673", "url": "https://www.uniprot.org/uniprotkb/Q1L673" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q1L673", "url": "https://www.uniprot.org/uniprotkb/Q1L673" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q1L673", "url": "https://www.uniprot.org/uniprotkb/Q1L673" } ], "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": "Q1L673", "url": "https://www.uniprot.org/uniprotkb/Q1L673" } ], "pmid": "" }, { "name": "embryonic cranial skeleton morphogenesis", "id": "GO:0048701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048701", "evidence": [ { "database": "UniProtKB", "id": "Q1L673", "url": "https://www.uniprot.org/uniprotkb/Q1L673" } ], "pmid": "" }, { "name": "heart looping", "id": "GO:0001947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001947", "evidence": [ { "database": "UniProtKB", "id": "Q1L673", "url": "https://www.uniprot.org/uniprotkb/Q1L673" } ], "pmid": "" }, { "name": "intracellular receptor signaling pathway", "id": "GO:0030522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030522", "evidence": [ { "database": "UniProtKB", "id": "Q1L673", "url": "https://www.uniprot.org/uniprotkb/Q1L673" } ], "pmid": "" }, { "name": "otic vesicle development", "id": "GO:0071599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071599", "evidence": [ { "database": "UniProtKB", "id": "Q1L673", "url": "https://www.uniprot.org/uniprotkb/Q1L673" } ], "pmid": "" }, { "name": "inner ear receptor cell development", "id": "GO:0060119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060119", "evidence": [ { "database": "UniProtKB", "id": "Q1L673", "url": "https://www.uniprot.org/uniprotkb/Q1L673" } ], "pmid": "" }, { "name": "heart jogging", "id": "GO:0003146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003146", "evidence": [ { "database": "UniProtKB", "id": "Q1L673", "url": "https://www.uniprot.org/uniprotkb/Q1L673" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q1L673", "url": "https://www.uniprot.org/uniprotkb/Q1L673" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q1L673", "url": "https://www.uniprot.org/uniprotkb/Q1L673" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q1L673", "url": "https://www.uniprot.org/uniprotkb/Q1L673" } ], "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": "Q1L673", "url": "https://www.uniprot.org/uniprotkb/Q1L673" } ], "pmid": "" }, { "name": "nuclear receptor activity", "id": "GO:0004879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004879", "evidence": [ { "database": "UniProtKB", "id": "Q1L673", "url": "https://www.uniprot.org/uniprotkb/Q1L673" } ], "pmid": "" }, { "name": "vitamin D binding", "id": "GO:0005499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005499", "evidence": [ { "database": "UniProtKB", "id": "Q1L673", "url": "https://www.uniprot.org/uniprotkb/Q1L673" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "Q1L8L9-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q1L8L9", "url": "https://www.uniprot.org/uniprotkb/Q1L8L9" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 241, "chemical_mass": 26616.0, "gene_names": "ak2;ak2;si:ch211-197n10.1;wu:fb34f05;wu:fj80e03", "protein_name": "Adenylate kinase 2, mitochondrial", "disease": [ { "disease_id": "DOID:0060020", "name": "reticular dysgenesis", "description": "A severe combined immunodeficiency that is the most severe form of SCID and has_material_basis_in mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions.", "url": "https://disease-ontology.org/term/DOID:0060020", "evidence": [ { "id": "0060020", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060020" } ], "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": "AMP kinase activity", "id": "GO:0004017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004017", "evidence": [ { "database": "UniProtKB", "id": "Q1L8L9", "url": "https://www.uniprot.org/uniprotkb/Q1L8L9" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q1L8L9", "url": "https://www.uniprot.org/uniprotkb/Q1L8L9" } ], "pmid": "" } ], "biological_process": [ { "name": "ADP biosynthetic process", "id": "GO:0006172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006172", "evidence": [ { "database": "UniProtKB", "id": "Q1L8L9", "url": "https://www.uniprot.org/uniprotkb/Q1L8L9" } ], "pmid": "" }, { "name": "AMP metabolic process", "id": "GO:0046033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046033", "evidence": [ { "database": "UniProtKB", "id": "Q1L8L9", "url": "https://www.uniprot.org/uniprotkb/Q1L8L9" } ], "pmid": "" }, { "name": "hematopoietic stem cell differentiation", "id": "GO:0060218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060218", "evidence": [ { "database": "UniProtKB", "id": "Q1L8L9", "url": "https://www.uniprot.org/uniprotkb/Q1L8L9" } ], "pmid": "" }, { "name": "hematopoietic progenitor cell differentiation", "id": "GO:0002244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002244", "evidence": [ { "database": "UniProtKB", "id": "Q1L8L9", "url": "https://www.uniprot.org/uniprotkb/Q1L8L9" } ], "pmid": "" }, { "name": "ATP metabolic process", "id": "GO:0046034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046034", "evidence": [ { "database": "UniProtKB", "id": "Q1L8L9", "url": "https://www.uniprot.org/uniprotkb/Q1L8L9" } ], "pmid": "" }, { "name": "leukocyte differentiation", "id": "GO:0002521", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002521", "evidence": [ { "database": "UniProtKB", "id": "Q1L8L9", "url": "https://www.uniprot.org/uniprotkb/Q1L8L9" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q1L8L9", "url": "https://www.uniprot.org/uniprotkb/Q1L8L9" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q1L8L9", "url": "https://www.uniprot.org/uniprotkb/Q1L8L9" } ], "pmid": "" }, { "name": "mitochondrial intermembrane space", "id": "GO:0005758", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005758", "evidence": [ { "database": "UniProtKB", "id": "Q1L8L9", "url": "https://www.uniprot.org/uniprotkb/Q1L8L9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "Q1L8X9-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q1L8X9", "url": "https://www.uniprot.org/uniprotkb/Q1L8X9" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 590, "chemical_mass": 64815.0, "gene_names": "slc17a8;si:ch211-264e16.4;slc17a8;vglut3", "protein_name": "Vesicular glutamate transporter 3", "disease": [ { "disease_id": "DOID:0080855", "name": "Parkinsonism", "description": "A movement disorder that is characterized by disturbances of balance, gait and posture.", "url": "https://disease-ontology.org/term/DOID:0080855", "evidence": [ { "id": "0080855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080855" } ], "weight": 0.0 }, { "disease_id": "DOID:0110555", "name": "autosomal dominant nonsyndromic deafness 25", "description": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second-sixth decade of life with high frequency progressive hearing loss and has_material_basis_in mutation in the SLC17A8 gene on chromosome 12q23.", "url": "https://disease-ontology.org/term/DOID:0110555", "evidence": [ { "id": "0110555", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110555" } ], "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: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: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": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q1LVZ2", "url": "https://www.uniprot.org/uniprotkb/Q1LVZ2" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q1LVZ2", "url": "https://www.uniprot.org/uniprotkb/Q1LVZ2" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "Q1LVZ2", "url": "https://www.uniprot.org/uniprotkb/Q1LVZ2" } ], "pmid": "" } ], "biological_process": [ { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q1LVZ2", "url": "https://www.uniprot.org/uniprotkb/Q1LVZ2" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0004842", "evidence": [ { "database": "UniProtKB", "id": "Q1LVZ2", "url": "https://www.uniprot.org/uniprotkb/Q1LVZ2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "Q1LW01-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q1LW01", "url": "https://www.uniprot.org/uniprotkb/Q1LW01" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 263, "chemical_mass": 29448.0, "gene_names": "he1.1;he1.2;cb284;fb96f07;h1;hce1;he1.2;he1a;he1b;he1;si:ch211-246m6.8;wu:cegs2099;wu:fb96f07;zHCE-1;zgc:111847", "protein_name": "Hatching enzyme 1.2", "disease": [], "molecular_function": [ { "name": "metalloendopeptidase activity", "id": "GO:0004222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004222", "evidence": [ { "database": "UniProtKB", "id": "Q1LW01", "url": "https://www.uniprot.org/uniprotkb/Q1LW01" } ], "pmid": "" }, { "name": "metallopeptidase activity", "id": "GO:0008237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008237", "evidence": [ { "database": "UniProtKB", "id": "Q1LW01", "url": "https://www.uniprot.org/uniprotkb/Q1LW01" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q1LW01", "url": "https://www.uniprot.org/uniprotkb/Q1LW01" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q1LW01", "url": "https://www.uniprot.org/uniprotkb/Q1LW01" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q1LW01", "url": "https://www.uniprot.org/uniprotkb/Q1LW01" } ], "pmid": "" }, { "name": "hatching", "id": "GO:0035188", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035188", "evidence": [ { "database": "UniProtKB", "id": "Q1LW01", "url": "https://www.uniprot.org/uniprotkb/Q1LW01" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "Q1LWH4-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q1LWH4", "url": "https://www.uniprot.org/uniprotkb/Q1LWH4" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 988, "chemical_mass": 110984.0, "gene_names": "fan1;fan1;fi39f01;mtmr15;si:ch211-163b1.2;si:ch211-201b11.2;wu:fd06a07;wu:fi39f01", "protein_name": "Fanconi-associated nuclease 1", "disease": [ { "disease_id": "DOID:0060911", "name": "karyomegalic interstitial nephritis", "description": "An interstitial nephritis characterized by nephritis, interstitial fibrosis, and enlarged and atypical tubular epithelial cell nuclei that has_material_basis_in homozygous or compound heterozygous mutation in the FAN1 gene on chromosome 15q13.3.", "url": "https://disease-ontology.org/term/DOID:0060911", "evidence": [ { "id": "0060911", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060911" } ], "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 } ], "molecular_function": [ { "name": "ubiquitin-modified protein reader activity", "id": "GO:0140036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140036", "evidence": [ { "database": "UniProtKB", "id": "Q1LWH4", "url": "https://www.uniprot.org/uniprotkb/Q1LWH4" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q1LWH4", "url": "https://www.uniprot.org/uniprotkb/Q1LWH4" } ], "pmid": "" }, { "name": "phosphodiesterase I activity", "id": "GO:0004528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004528", "evidence": [ { "database": "UniProtKB", "id": "Q1LWH4", "url": "https://www.uniprot.org/uniprotkb/Q1LWH4" } ], "pmid": "" }, { "name": "5'-3' exonuclease activity", "id": "GO:0008409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008409", "evidence": [ { "database": "UniProtKB", "id": "Q1LWH4", "url": "https://www.uniprot.org/uniprotkb/Q1LWH4" } ], "pmid": "" }, { "name": "5'-flap endonuclease activity", "id": "GO:0017108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017108", "evidence": [ { "database": "UniProtKB", "id": "Q1LWH4", "url": "https://www.uniprot.org/uniprotkb/Q1LWH4" } ], "pmid": "" }, { "name": "flap-structured DNA binding", "id": "GO:0070336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070336", "evidence": [ { "database": "UniProtKB", "id": "Q1LWH4", "url": "https://www.uniprot.org/uniprotkb/Q1LWH4" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q1LWH4", "url": "https://www.uniprot.org/uniprotkb/Q1LWH4" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "Q1LWH4", "url": "https://www.uniprot.org/uniprotkb/Q1LWH4" } ], "pmid": "" }, { "name": "double-strand break repair via homologous recombination", "id": "GO:0000724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000724", "evidence": [ { "database": "UniProtKB", "id": "Q1LWH4", "url": "https://www.uniprot.org/uniprotkb/Q1LWH4" } ], "pmid": "" }, { "name": "interstrand cross-link repair", "id": "GO:0036297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036297", "evidence": [ { "database": "UniProtKB", "id": "Q1LWH4", "url": "https://www.uniprot.org/uniprotkb/Q1LWH4" } ], "pmid": "" }, { "name": "nucleotide-excision repair", "id": "GO:0006289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006289", "evidence": [ { "database": "UniProtKB", "id": "Q1LWH4", "url": "https://www.uniprot.org/uniprotkb/Q1LWH4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "Q1LX78-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q1LX78", "url": "https://www.uniprot.org/uniprotkb/Q1LX78" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 1485, "chemical_mass": 168400.0, "gene_names": "cftr;cftr;si:dkey-270i2.2", "protein_name": "Cystic fibrosis transmembrane conductance regulator", "disease": [ { "disease_id": "DOID:0050127", "name": "sinusitis", "description": "A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. 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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:0060643", "name": "primary sclerosing cholangitis", "description": "A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension.", "url": "https://disease-ontology.org/term/DOID:0060643", "evidence": [ { "id": "0060643", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060643" } ], "weight": 0.0 }, { "disease_id": "DOID:0080526", "name": "bronchiectasis 1", "description": "A bronchiectasis that has_material_basis_in mutation in the gene encoding the beta subunit of the epithelial sodium channel on chromosome 16p12.", "url": "https://disease-ontology.org/term/DOID:0080526", "evidence": [ { "id": "0080526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080526" } ], "weight": 0.0 }, { "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:0111862", "name": "congenital bilateral absence of vas deferens", "description": "A male infertility that is characterized by bilateral absence of the vas deferens resulting in obstroctive azoospermia and male infertility.", "url": "https://disease-ontology.org/term/DOID:0111862", "evidence": [ { "id": "0111862", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111862" } ], "weight": 0.0 }, { "disease_id": "DOID:0111864", "name": "autosomal recessive congenital bilateral absence of vas deferens", "description": "A congenital bilateral absence of vas deferens that has_material_basis_in homozygous or compound heterozygous mutation in the CFTR gene on chromosome 7q31.2.", "url": "https://disease-ontology.org/term/DOID:0111864", "evidence": [ { "id": "0111864", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111864" } ], "weight": 0.0 }, { "disease_id": "DOID:10211", "name": "cholelithiasis", "description": "", "url": "https://disease-ontology.org/term/DOID:10211", "evidence": [ { "id": "10211", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10211" } ], "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: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: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:13166", "name": "allergic bronchopulmonary aspergillosis", "description": "An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has symptom cough, has symptom wheezing and has symptom fever.", "url": "https://disease-ontology.org/term/DOID:13166", "evidence": [ { "id": "13166", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13166" } ], "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:13258", "name": "typhoid fever", "description": "A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia.", "url": "https://disease-ontology.org/term/DOID:13258", "evidence": [ { "id": "13258", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13258" } ], "weight": 0.0 }, { "disease_id": "DOID:13316", "name": "exocrine pancreatic insufficiency", "description": "A pancreas disease that is characterized by the inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine.", "url": "https://disease-ontology.org/term/DOID:13316", "evidence": [ { "id": "13316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13316" } ], "weight": 0.0 }, { "disease_id": "DOID:13406", "name": "pulmonary sarcoidosis", "description": "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.", "url": "https://disease-ontology.org/term/DOID:13406", "evidence": [ { "id": "13406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13406" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:1724", "name": "duodenal ulcer", "description": "", "url": "https://disease-ontology.org/term/DOID:1724", "evidence": [ { "id": "1724", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1724" } ], "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: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: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:4988", "name": "alcoholic pancreatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:4988", "evidence": [ { "id": "4988", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4988" } ], "weight": 0.0 }, { "disease_id": "DOID:5733", "name": "salpingitis", "description": "A fallopian tube disease that is characterized by inflammation of the fallopian tube.", "url": "https://disease-ontology.org/term/DOID:5733", "evidence": [ { "id": "5733", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5733" } ], "weight": 0.0 }, { "disease_id": "DOID:693", "name": "dental enamel hypoplasia", "description": "", "url": "https://disease-ontology.org/term/DOID:693", "evidence": [ { "id": "693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:693" } ], "weight": 0.0 }, { "disease_id": "DOID:77", "name": "gastrointestinal system disease", "description": "A disease of anatomical entity that is located_in the gastrointestinal tract.", "url": "https://disease-ontology.org/term/DOID:77", "evidence": [ { "id": "77", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:77" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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 } ], "molecular_function": [ { "name": "intracellularly ATP-gated chloride channel activity", "id": "GO:0005260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005260", "evidence": [ { "database": "UniProtKB", "id": "Q1LX78", "url": "https://www.uniprot.org/uniprotkb/Q1LX78" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q1LX78", "url": "https://www.uniprot.org/uniprotkb/Q1LX78" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q1LX78", "url": "https://www.uniprot.org/uniprotkb/Q1LX78" } ], "pmid": "" }, { "name": "chloride channel activity", "id": "GO:0005254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005254", "evidence": [ { "database": "UniProtKB", "id": "Q1LX78", "url": "https://www.uniprot.org/uniprotkb/Q1LX78" } ], "pmid": "" }, { "name": "bicarbonate transmembrane transporter activity", "id": "GO:0015106", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015106", "evidence": [ { "database": "UniProtKB", "id": "Q1LX78", "url": "https://www.uniprot.org/uniprotkb/Q1LX78" } ], "pmid": "" }, { "name": "ABC-type transporter activity", "id": "GO:0140359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140359", "evidence": [ { "database": "UniProtKB", "id": "Q1LX78", "url": "https://www.uniprot.org/uniprotkb/Q1LX78" } ], "pmid": "" } ], "biological_process": [ { "name": "embryonic hemopoiesis", "id": "GO:0035162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035162", "evidence": [ { "database": "UniProtKB", "id": "Q1LX78", "url": "https://www.uniprot.org/uniprotkb/Q1LX78" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q1LX78", "url": "https://www.uniprot.org/uniprotkb/Q1LX78" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q1LX78", "url": "https://www.uniprot.org/uniprotkb/Q1LX78" } ], "pmid": "" }, { "name": "cellular response to forskolin", "id": "GO:1904322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904322", "evidence": [ { "database": "UniProtKB", "id": "Q1LX78", "url": "https://www.uniprot.org/uniprotkb/Q1LX78" } ], "pmid": "" }, { "name": "pancreas development", "id": "GO:0031016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031016", "evidence": [ { "database": "UniProtKB", "id": "Q1LX78", "url": "https://www.uniprot.org/uniprotkb/Q1LX78" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "Q1LX78", "url": "https://www.uniprot.org/uniprotkb/Q1LX78" } ], "pmid": "" }, { "name": "chloride transmembrane transport", "id": "GO:1902476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902476", "evidence": [ { "database": "UniProtKB", "id": "Q1LX78", "url": "https://www.uniprot.org/uniprotkb/Q1LX78" } ], "pmid": "" }, { "name": "Kupffer's vesicle development", "id": "GO:0070121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070121", "evidence": [ { "database": "UniProtKB", "id": "Q1LX78", "url": "https://www.uniprot.org/uniprotkb/Q1LX78" } ], "pmid": "" }, { "name": "water transport", "id": "GO:0006833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006833", "evidence": [ { "database": "UniProtKB", "id": "Q1LX78", "url": "https://www.uniprot.org/uniprotkb/Q1LX78" } ], "pmid": "" }, { "name": "bicarbonate transport", "id": "GO:0015701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015701", "evidence": [ { "database": "UniProtKB", "id": "Q1LX78", "url": "https://www.uniprot.org/uniprotkb/Q1LX78" } ], "pmid": "" }, { "name": "transepithelial water transport", "id": "GO:0035377", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035377", "evidence": [ { "database": "UniProtKB", "id": "Q1LX78", "url": "https://www.uniprot.org/uniprotkb/Q1LX78" } ], "pmid": "" }, { "name": "multicellular organismal-level water homeostasis", "id": "GO:0050891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050891", "evidence": [ { "database": "UniProtKB", "id": "Q1LX78", "url": "https://www.uniprot.org/uniprotkb/Q1LX78" } ], "pmid": "" }, { "name": "germ cell migration", "id": "GO:0008354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008354", "evidence": [ { "database": "UniProtKB", "id": "Q1LX78", "url": "https://www.uniprot.org/uniprotkb/Q1LX78" } ], "pmid": "" }, { "name": "respiratory burst involved in defense response", "id": "GO:0002679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002679", "evidence": [ { "database": "UniProtKB", "id": "Q1LX78", "url": "https://www.uniprot.org/uniprotkb/Q1LX78" } ], "pmid": "" }, { "name": "T cell differentiation", "id": "GO:0030217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030217", "evidence": [ { "database": "UniProtKB", "id": "Q1LX78", "url": "https://www.uniprot.org/uniprotkb/Q1LX78" } ], "pmid": "" }, { "name": "lymphoid lineage cell migration into thymus", "id": "GO:0097535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097535", "evidence": [ { "database": "UniProtKB", "id": "Q1LX78", "url": "https://www.uniprot.org/uniprotkb/Q1LX78" } ], "pmid": "" }, { "name": "regulation of neutrophil chemotaxis", "id": "GO:0090022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090022", "evidence": [ { "database": "UniProtKB", "id": "Q1LX78", "url": "https://www.uniprot.org/uniprotkb/Q1LX78" } ], "pmid": "" }, { "name": "Spemann organizer formation at the embryonic shield", "id": "GO:0060063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060063", "evidence": [ { "database": "UniProtKB", "id": "Q1LX78", "url": "https://www.uniprot.org/uniprotkb/Q1LX78" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q1LX78", "url": "https://www.uniprot.org/uniprotkb/Q1LX78" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q1LX78", "url": "https://www.uniprot.org/uniprotkb/Q1LX78" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q1LX78", "url": "https://www.uniprot.org/uniprotkb/Q1LX78" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q1LX78", "url": "https://www.uniprot.org/uniprotkb/Q1LX78" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q1LX78", "url": "https://www.uniprot.org/uniprotkb/Q1LX78" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q1LX78", "url": "https://www.uniprot.org/uniprotkb/Q1LX78" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "Q1LX78", "url": "https://www.uniprot.org/uniprotkb/Q1LX78" } ], "pmid": "" }, { "name": "recycling endosome membrane", "id": "GO:0055038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055038", "evidence": [ { "database": "UniProtKB", "id": "Q1LX78", "url": "https://www.uniprot.org/uniprotkb/Q1LX78" } ], "pmid": "" }, { "name": "chloride channel complex", "id": "GO:0034707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034707", "evidence": [ { "database": "UniProtKB", "id": "Q1LX78", "url": "https://www.uniprot.org/uniprotkb/Q1LX78" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q1LX78-1", "start_pos": "897", "end_pos": "897", "site_lbl": "Asn897", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 897, "start_aa": "Asn", "end_pos": 897, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn897", "evidence": [ { "id": "Q1LX78", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q1LX78#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-ProRule", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ] }, { "uniprot_canonical_ac": "Q1LX78-1", "start_pos": "903", "end_pos": "903", "site_lbl": "Asn903", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 903, "start_aa": "Asn", "end_pos": 903, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn903", "evidence": [ { "id": "Q1LX78", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q1LX78#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-ProRule", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ] }, { "uniprot_canonical_ac": "Q1LX78-1", "start_pos": "918", "end_pos": "918", "site_lbl": "Thr918", "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": 918, "start_aa": "Thr", "end_pos": 918, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr918", "evidence": [ { "id": "", "database": "GlyGen", "url": "https://data.glygen.org/" } ] } ] } ], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "Q1LXE1-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q1LXE1", "url": "https://www.uniprot.org/uniprotkb/Q1LXE1" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 336, "chemical_mass": 37687.0, "gene_names": "hapln1a;crtl1;fc26f11;fc37g04;fc50e12;fc55h01;hapln1a;hapln1;wu:fc26f11;wu:fc37g04;wu:fc50e12;wu:fc55h01", "protein_name": "", "disease": [ { "disease_id": "DOID:14789", "name": "spondyloepiphyseal dysplasia congenita", "description": "A spondyloepiphyseal dysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11.", "url": "https://disease-ontology.org/term/DOID:14789", "evidence": [ { "id": "14789", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14789" } ], "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": "Q1LXE1", "url": "https://www.uniprot.org/uniprotkb/Q1LXE1" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q1LXE1", "url": "https://www.uniprot.org/uniprotkb/Q1LXE1" } ], "pmid": "" }, { "name": "perineuronal net", "id": "GO:0072534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072534", "evidence": [ { "database": "UniProtKB", "id": "Q1LXE1", "url": "https://www.uniprot.org/uniprotkb/Q1LXE1" } ], "pmid": "" } ], "biological_process": [ { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q1LXE1", "url": "https://www.uniprot.org/uniprotkb/Q1LXE1" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "Q1LXE1", "url": "https://www.uniprot.org/uniprotkb/Q1LXE1" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "Q1LXE1", "url": "https://www.uniprot.org/uniprotkb/Q1LXE1" } ], "pmid": "" }, { "name": "fin regeneration", "id": "GO:0031101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031101", "evidence": [ { "database": "UniProtKB", "id": "Q1LXE1", "url": "https://www.uniprot.org/uniprotkb/Q1LXE1" } ], "pmid": "" }, { "name": "extracellular matrix organization involved in endocardium development", "id": "GO:0061148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061148", "evidence": [ { "database": "UniProtKB", "id": "Q1LXE1", "url": "https://www.uniprot.org/uniprotkb/Q1LXE1" } ], "pmid": "" } ], "molecular_function": [ { "name": "hyaluronic acid binding", 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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: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. 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"GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q4V9F0", "url": "https://www.uniprot.org/uniprotkb/Q4V9F0" } ], "pmid": "" }, { "name": "perinuclear endoplasmic reticulum membrane", "id": "GO:1990578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990578", "evidence": [ { "database": "UniProtKB", "id": "Q4V9F0", "url": "https://www.uniprot.org/uniprotkb/Q4V9F0" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid homeostasis", "id": "GO:0055088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055088", "evidence": [ { "database": "UniProtKB", "id": "Q4V9F0", "url": "https://www.uniprot.org/uniprotkb/Q4V9F0" } ], "pmid": "" }, { "name": "diacylglycerol biosynthetic process", "id": "GO:0006651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006651", "evidence": [ { "database": "UniProtKB", "id": "Q4V9F0", "url": "https://www.uniprot.org/uniprotkb/Q4V9F0" } ], "pmid": "" }, { "name": "triglyceride biosynthetic process", "id": "GO:0019432", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019432", "evidence": [ { "database": "UniProtKB", "id": "Q4V9F0", "url": "https://www.uniprot.org/uniprotkb/Q4V9F0" } ], "pmid": "" }, { "name": "glycerol metabolic process", "id": "GO:0006071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006071", "evidence": [ { "database": "UniProtKB", "id": "Q4V9F0", "url": "https://www.uniprot.org/uniprotkb/Q4V9F0" } ], "pmid": "" }, { "name": "regulation of response to endoplasmic reticulum stress", "id": "GO:1905897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905897", "evidence": [ { "database": "UniProtKB", "id": "Q4V9F0", "url": "https://www.uniprot.org/uniprotkb/Q4V9F0" } ], "pmid": "" }, { "name": "response to (R)-carnitine", "id": "GO:0061959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061959", "evidence": [ { "database": "UniProtKB", "id": "Q4V9F0", "url": "https://www.uniprot.org/uniprotkb/Q4V9F0" } ], "pmid": "" } ], "molecular_function": [ { "name": "diacylglycerol O-acyltransferase activity", "id": "GO:0004144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004144", "evidence": [ { "database": "UniProtKB", "id": "Q4V9F0", "url": "https://www.uniprot.org/uniprotkb/Q4V9F0" } ], "pmid": "" }, { "name": "retinol O-fatty-acyltransferase activity", "id": "GO:0050252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050252", "evidence": [ { "database": "UniProtKB", "id": "Q4V9F0", "url": "https://www.uniprot.org/uniprotkb/Q4V9F0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "Q4VSN1-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q4VSN1", "url": "https://www.uniprot.org/uniprotkb/Q4VSN1" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 885, "chemical_mass": 99548.0, "gene_names": "dstyk;dstyk;ripk5;zgc:136421", "protein_name": "Dual serine/threonine and tyrosine protein kinase", "disease": [ { "disease_id": "DOID:0080206", "name": "congenital anomalies of the kidney and urinary tract 1", "description": "A congenital anomalies of the kidney and urinary tract that has_material_basis_in heterozygous mutation in the DSTYK gene on chromosome 1q32.", "url": "https://disease-ontology.org/term/DOID:0080206", "evidence": [ { "id": "0080206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080206" } ], "weight": 0.0 }, { "disease_id": "DOID:0110774", "name": "hereditary spastic paraplegia 23", "description": "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1q24-q32.", "url": "https://disease-ontology.org/term/DOID:0110774", "evidence": [ { "id": "0110774", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110774" } ], "weight": 0.0 } ], "biological_process": [ { "name": "notochord morphogenesis", "id": "GO:0048570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048570", "evidence": [ { "database": "UniProtKB", "id": "Q4VSN1", "url": "https://www.uniprot.org/uniprotkb/Q4VSN1" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q4VSN1", "url": "https://www.uniprot.org/uniprotkb/Q4VSN1" } ], "pmid": "" }, { "name": "positive regulation of ERK1 and ERK2 cascade", "id": "GO:0070374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070374", "evidence": [ { "database": "UniProtKB", "id": "Q4VSN1", "url": "https://www.uniprot.org/uniprotkb/Q4VSN1" } ], "pmid": "" }, { "name": "embryonic organ development", "id": "GO:0048568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048568", "evidence": [ { "database": "UniProtKB", "id": "Q4VSN1", "url": "https://www.uniprot.org/uniprotkb/Q4VSN1" } ], "pmid": "" }, { "name": "cellular response to fibroblast growth factor stimulus", "id": "GO:0044344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044344", "evidence": [ { "database": "UniProtKB", "id": "Q4VSN1", "url": "https://www.uniprot.org/uniprotkb/Q4VSN1" } ], "pmid": "" }, { "name": "positive regulation of fibroblast growth factor receptor signaling pathway", "id": "GO:0045743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045743", "evidence": [ { "database": "UniProtKB", "id": "Q4VSN1", "url": "https://www.uniprot.org/uniprotkb/Q4VSN1" } ], "pmid": "" }, { "name": "notochord cell vacuolation", "id": "GO:0060036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060036", "evidence": [ { "database": "UniProtKB", "id": "Q4VSN1", "url": "https://www.uniprot.org/uniprotkb/Q4VSN1" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q4VSN1", "url": "https://www.uniprot.org/uniprotkb/Q4VSN1" } ], "pmid": "" }, { "name": "protein tyrosine kinase activity", "id": "GO:0004713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004713", "evidence": [ { "database": "UniProtKB", "id": "Q4VSN1", "url": "https://www.uniprot.org/uniprotkb/Q4VSN1" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q4VSN1", "url": "https://www.uniprot.org/uniprotkb/Q4VSN1" } ], "pmid": "" }, { "name": "protein serine/threonine/tyrosine kinase activity", "id": "GO:0004712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004712", "evidence": [ { "database": "UniProtKB", "id": "Q4VSN1", "url": "https://www.uniprot.org/uniprotkb/Q4VSN1" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q4VSN1", "url": "https://www.uniprot.org/uniprotkb/Q4VSN1" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q4VSN1", "url": "https://www.uniprot.org/uniprotkb/Q4VSN1" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q4VSN1", "url": "https://www.uniprot.org/uniprotkb/Q4VSN1" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q4VSN1", "url": "https://www.uniprot.org/uniprotkb/Q4VSN1" } ], "pmid": "" }, { "name": "anchoring junction", "id": "GO:0070161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070161", "evidence": [ { "database": "UniProtKB", "id": "Q4VSN1", "url": "https://www.uniprot.org/uniprotkb/Q4VSN1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "Q501Z5-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q501Z5", "url": "https://www.uniprot.org/uniprotkb/Q501Z5" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 500, "chemical_mass": 54836.0, "gene_names": "gtpbp3;gtpbp3;zgc:112394", "protein_name": "5-taurinomethyluridine-[tRNA] synthase subunit GTPB3, mitochondrial", "disease": [ { "disease_id": "DOID:0111500", "name": "combined oxidative phosphorylation deficiency 23", "description": "A combined oxidative phosphorylation deficiency characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the GTPBP3 gene on chromosome 19p13.11.", "url": "https://disease-ontology.org/term/DOID:0111500", "evidence": [ { "id": "0111500", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111500" } ], "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:700", "name": "mitochondrial metabolism disease", "description": "An inherited metabolic disorder that involves mitochondrial metabolism dysfunction.", "url": "https://disease-ontology.org/term/DOID:700", "evidence": [ { "id": "700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:700" } ], "weight": 0.0 } ], "biological_process": [ { "name": "mitochondrial alanyl-tRNA aminoacylation", "id": "GO:0070143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070143", "evidence": [ { "database": "UniProtKB", "id": "Q501Z5", "url": "https://www.uniprot.org/uniprotkb/Q501Z5" } ], "pmid": "" }, { "name": "mitochondrial tyrosyl-tRNA aminoacylation", "id": "GO:0070184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070184", "evidence": [ { "database": "UniProtKB", "id": "Q501Z5", "url": "https://www.uniprot.org/uniprotkb/Q501Z5" } ], "pmid": "" }, { "name": "tRNA wobble uridine modification", "id": "GO:0002098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002098", "evidence": [ { "database": "UniProtKB", "id": "Q501Z5", "url": "https://www.uniprot.org/uniprotkb/Q501Z5" } ], "pmid": "" }, { "name": "tRNA methylation", "id": "GO:0030488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030488", "evidence": [ { "database": "UniProtKB", "id": "Q501Z5", "url": "https://www.uniprot.org/uniprotkb/Q501Z5" } ], "pmid": "" }, { "name": "embryonic organ development", "id": "GO:0048568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048568", "evidence": [ { "database": "UniProtKB", "id": "Q501Z5", "url": "https://www.uniprot.org/uniprotkb/Q501Z5" } ], "pmid": "" }, { "name": "mitochondrial tRNA wobble uridine modification", "id": "GO:0070899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070899", "evidence": [ { "database": "UniProtKB", "id": "Q501Z5", "url": "https://www.uniprot.org/uniprotkb/Q501Z5" } ], "pmid": "" }, { "name": "mitochondrial tRNA modification", "id": "GO:0070900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070900", "evidence": [ { "database": "UniProtKB", "id": "Q501Z5", "url": "https://www.uniprot.org/uniprotkb/Q501Z5" } ], "pmid": "" }, { "name": "mitochondrial tryptophanyl-tRNA aminoacylation", "id": "GO:0070183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070183", "evidence": [ { "database": "UniProtKB", "id": "Q501Z5", "url": "https://www.uniprot.org/uniprotkb/Q501Z5" } ], "pmid": "" }, { "name": "tRNA stabilization", "id": "GO:0036416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036416", "evidence": [ { "database": "UniProtKB", "id": "Q501Z5", "url": "https://www.uniprot.org/uniprotkb/Q501Z5" } ], "pmid": "" }, { "name": "mitochondrial lysyl-tRNA aminoacylation", "id": "GO:0070154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070154", "evidence": [ { "database": "UniProtKB", "id": "Q501Z5", "url": "https://www.uniprot.org/uniprotkb/Q501Z5" } ], "pmid": "" }, { "name": "mitochondrial leucyl-tRNA aminoacylation", "id": "GO:0070153", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070153", "evidence": [ { "database": "UniProtKB", "id": "Q501Z5", "url": "https://www.uniprot.org/uniprotkb/Q501Z5" } ], "pmid": "" }, { "name": "mitochondrial methionyl-tRNA aminoacylation", "id": "GO:0070155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070155", "evidence": [ { "database": "UniProtKB", "id": "Q501Z5", "url": "https://www.uniprot.org/uniprotkb/Q501Z5" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q501Z5", "url": "https://www.uniprot.org/uniprotkb/Q501Z5" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q501Z5", "url": "https://www.uniprot.org/uniprotkb/Q501Z5" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q501Z5", "url": "https://www.uniprot.org/uniprotkb/Q501Z5" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q501Z5", "url": "https://www.uniprot.org/uniprotkb/Q501Z5" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q501Z5", "url": "https://www.uniprot.org/uniprotkb/Q501Z5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q501Z5-1", "start_pos": "279", "end_pos": "279", "site_lbl": "Thr279", "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": 279, "start_aa": "Thr", "end_pos": 279, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr279", "evidence": [ { "id": "", "database": "GlyGen", "url": "https://data.glygen.org/" } ] } ] } ], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "Q504J1-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q504J1", "url": "https://www.uniprot.org/uniprotkb/Q504J1" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 404, "chemical_mass": 46090.0, "gene_names": "caspb;casp19a;caspb;caspy2;si:ch211-233g6.8;zgc:109807", "protein_name": "Caspase b", "disease": [ { "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: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: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:2055", "name": "post-traumatic stress disorder", "description": "An anxiety disorder which results from a traumatic experience that results in psychological trauma.", "url": "https://disease-ontology.org/term/DOID:2055", "evidence": [ { "id": "2055", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2055" } ], "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:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas.", "url": "https://disease-ontology.org/term/DOID:4989", "evidence": [ { "id": "4989", "database": "AGR", "url": 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"https://www.uniprot.org/uniprotkb/Q504J1" } ], "pmid": "" }, { "name": "positive regulation of neuron apoptotic process", "id": "GO:0043525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043525", "evidence": [ { "database": "UniProtKB", "id": "Q504J1", "url": "https://www.uniprot.org/uniprotkb/Q504J1" } ], "pmid": "" }, { "name": "positive regulation of interleukin-1 beta production", "id": "GO:0032731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032731", "evidence": [ { "database": "UniProtKB", "id": "Q504J1", "url": "https://www.uniprot.org/uniprotkb/Q504J1" } ], "pmid": "" }, { "name": "pyroptotic inflammatory response", "id": "GO:0070269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070269", "evidence": [ { "database": "UniProtKB", "id": "Q504J1", "url": "https://www.uniprot.org/uniprotkb/Q504J1" } ], "pmid": "" }, { "name": "self proteolysis", "id": "GO:0097264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097264", "evidence": [ { "database": "UniProtKB", "id": "Q504J1", "url": "https://www.uniprot.org/uniprotkb/Q504J1" } ], "pmid": "" }, { "name": "regulation of programmed cell death", "id": "GO:0043067", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043067", "evidence": [ { "database": "UniProtKB", "id": "Q504J1", "url": "https://www.uniprot.org/uniprotkb/Q504J1" } ], "pmid": "" }, { "name": "programmed cell death", "id": "GO:0012501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012501", "evidence": [ { "database": "UniProtKB", "id": "Q504J1", "url": "https://www.uniprot.org/uniprotkb/Q504J1" } ], "pmid": "" } ], "molecular_function": [ { "name": "endopeptidase activity", "id": "GO:0004175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004175", "evidence": [ { "database": "UniProtKB", "id": "Q504J1", "url": "https://www.uniprot.org/uniprotkb/Q504J1" } ], "pmid": "" }, { "name": "lipopolysaccharide binding", "id": "GO:0001530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001530", "evidence": [ { "database": "UniProtKB", "id": 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Abolishes pyroptosis induced by bacterial lipopolysaccharides (LPS).", "evidence": [ { "database": "UniProtKB", "id": "Q504J1", "url": "https://www.uniprot.org/uniprotkb/Q504J1" }, { "database": "PubMed", "id": "30076291", "url": "https://glygen.org/publication/PubMed/30076291" } ] } ] } ], "record_id": "batch.zebrafish.11" }, { "uniprot_canonical_ac": "Q52KL1-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q52KL1", "url": "https://www.uniprot.org/uniprotkb/Q52KL1" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 252, "chemical_mass": 28972.0, "gene_names": "fitm2;c20orf142;fit2;fitm2;wu:fc04g08;wu:fr13b05;zgc:110840", "protein_name": "Acyl-coenzyme A diphosphatase FITM2", "disease": [ { "disease_id": "DOID:0081273", "name": "Siddiqi syndrome", "description": "A lipid storage disease that is characterized by global developmental delay, early-onset progressive 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"" }, { "name": "lipid droplet organization", "id": "GO:0034389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034389", "evidence": [ { "database": "UniProtKB", "id": "Q52KL1", "url": "https://www.uniprot.org/uniprotkb/Q52KL1" } ], "pmid": "" }, { "name": "phospholipid biosynthetic process", "id": "GO:0008654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008654", "evidence": [ { "database": "UniProtKB", "id": "Q52KL1", "url": "https://www.uniprot.org/uniprotkb/Q52KL1" } ], "pmid": "" }, { "name": "lipid droplet formation", "id": "GO:0140042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140042", "evidence": [ { "database": "UniProtKB", "id": "Q52KL1", "url": "https://www.uniprot.org/uniprotkb/Q52KL1" } ], "pmid": "" }, { "name": "type B pancreatic cell development", "id": "GO:0003323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003323", "evidence": [ { "database": "UniProtKB", "id": "Q52KL1", "url": "https://www.uniprot.org/uniprotkb/Q52KL1" } ], "pmid": "" }, { "name": 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