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The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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. 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"name": "intracellular oxygen homeostasis", "id": "GO:0032364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032364", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K3B7", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K3B7" } ], "pmid": "" }, { "name": "chemoattraction of dopaminergic neuron axon", "id": "GO:0036516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036516", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K3B7", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K3B7" } ], "pmid": "" }, { "name": "chorio-allantoic fusion", "id": "GO:0060710", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060710", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K3B7", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K3B7" } ], "pmid": "" }, { "name": "lung morphogenesis", "id": "GO:0060425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060425", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K3B7", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K3B7" } ], 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"A0A0G2K3S9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K3S9" } ], "pmid": "" }, { "name": "cellular response to high light intensity", "id": "GO:0071486", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071486", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K3S9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K3S9" } ], "pmid": "" }, { "name": "calcium ion homeostasis", "id": "GO:0055074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055074", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K3S9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K3S9" } ], "pmid": "" }, { "name": "phototransduction", "id": "GO:0007602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007602", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K3S9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K3S9" } ], "pmid": "" }, { "name": "amelogenesis", "id": "GO:0097186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097186", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K3S9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K3S9" } ], "pmid": "" }, { "name": "membrane repolarization", "id": "GO:0086009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086009", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K3S9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K3S9" } ], "pmid": "" }, { "name": "calcium ion import across plasma membrane", "id": "GO:0098703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098703", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K3S9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K3S9" } ], "pmid": "" }, { "name": "calcium ion export across plasma membrane", "id": "GO:1990034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990034", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K3S9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K3S9" } ], "pmid": "" }, { "name": "potassium ion transmembrane transport", "id": "GO:0071805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071805", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K3S9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K3S9" } ], "pmid": "" }, { "name": "response to odorant", "id": "GO:1990834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990834", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K3S9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K3S9" } ], "pmid": "" }, { "name": "detection of chemical stimulus involved in sensory perception of smell", "id": "GO:0050911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050911", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K3S9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K3S9" } ], "pmid": "" }, { "name": "regulation of G protein-coupled receptor signaling pathway", "id": "GO:0008277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008277", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K3S9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K3S9" } ], "pmid": "" }, { "name": "olfactory nerve maturation", "id": 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"apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K3S9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K3S9" } ], "pmid": "" }, { "name": "vesicle", "id": "GO:0031982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K3S9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K3S9" } ], "pmid": "" }, { "name": "cone photoreceptor outer segment", "id": "GO:0120199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120199", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K3S9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K3S9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0G2K3S9-1" }, { "uniprot_canonical_ac": "A0A0G2K414-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K414", "url": 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"protein_name": "Disks large homolog 5 N-terminal domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "F1M4C6-1" }, { "uniprot_canonical_ac": "D3ZH55-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D3ZH55", "url": "https://www.uniprot.org/uniprotkb/D3ZH55" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 390, "chemical_mass": 42902.0, "gene_names": "Fam53c;Fam53c", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "D3ZH55", "url": "https://www.uniprot.org/uniprotkb/D3ZH55" } ], "pmid": "" } ], "biological_process": [ { "name": "protein import into nucleus", "id": "GO:0006606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006606", "evidence": [ { 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"glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 429, "chemical_mass": 48221.0, "gene_names": "Chrdl2;Chrdl2", "protein_name": "", "disease": [], "biological_process": [ { "name": "system development", "id": "GO:0048731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048731", "evidence": [ { "database": "UniProtKB", "id": "F1LW58", "url": "https://www.uniprot.org/uniprotkb/F1LW58" } ], "pmid": "" }, { "name": "ossification", "id": "GO:0001503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001503", "evidence": [ { "database": "UniProtKB", "id": "F1LW58", "url": "https://www.uniprot.org/uniprotkb/F1LW58" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "F1LW58", "url": "https://www.uniprot.org/uniprotkb/F1LW58" } ], "pmid": "" }, { "name": "negative regulation of BMP signaling pathway", "id": "GO:0030514", "url": 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"Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 1141, "chemical_mass": 123432.0, "gene_names": "Myrf;Mrf;Myrf;RGD1306622", "protein_name": "Myelin regulatory factor", "disease": [ { "disease_id": "DOID:0080634", "name": "nanophthalmos", "description": "A microphthalmia that is characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma.", "url": "https://disease-ontology.org/term/DOID:0080634", "evidence": [ { "id": "0080634", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080634" } ], "weight": 0.0 }, { "disease_id": "DOID:1405", "name": "primary angle-closure glaucoma", "description": "An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual 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Primary angle-closure glaucoma has a strong genetic component.", "url": "https://disease-ontology.org/term/DOID:1405", "evidence": [ { "id": "1405", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1405" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:9834", "name": "hyperopia", "description": "A refractive error that is characterized by rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back.", "url": "https://disease-ontology.org/term/DOID:9834", "evidence": [ { "id": "9834", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9834" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "D4A352", "url": "https://www.uniprot.org/uniprotkb/D4A352" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "D4A352", "url": "https://www.uniprot.org/uniprotkb/D4A352" } ], "pmid": "" }, { "name": "peptidase activity", "id": "GO:0008233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008233", "evidence": [ { "database": "UniProtKB", "id": "D4A352", "url": "https://www.uniprot.org/uniprotkb/D4A352" } ], "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": "D4A352", "url": "https://www.uniprot.org/uniprotkb/D4A352" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "D4A352", "url": "https://www.uniprot.org/uniprotkb/D4A352" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "D4A352", "url": "https://www.uniprot.org/uniprotkb/D4A352" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "D4A352", "url": "https://www.uniprot.org/uniprotkb/D4A352" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "D4A352", "url": "https://www.uniprot.org/uniprotkb/D4A352" } ], "pmid": "" }, { "name": "membrane", "id": 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"https://www.ebi.ac.uk/QuickGO/term/GO:1905806", "evidence": [ { "database": "UniProtKB", "id": "D4A7M0", "url": "https://www.uniprot.org/uniprotkb/D4A7M0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "D4A7M0-1", "start_pos": "717", "end_pos": "717", "site_lbl": "Asn717", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G09775CH", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. 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"pmid": "" }, { "name": "ciliary transition zone", "id": "GO:0035869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035869", "evidence": [ { "database": "UniProtKB", "id": "D3ZP87", "url": "https://www.uniprot.org/uniprotkb/D3ZP87" } ], "pmid": "" }, { "name": "sperm annulus", "id": "GO:0097227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097227", "evidence": [ { "database": "UniProtKB", "id": "D3ZP87", "url": "https://www.uniprot.org/uniprotkb/D3ZP87" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "D3ZP87", "url": "https://www.uniprot.org/uniprotkb/D3ZP87" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "D3ZP87", "url": "https://www.uniprot.org/uniprotkb/D3ZP87" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "D3ZP87", "url": "https://www.uniprot.org/uniprotkb/D3ZP87" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "D3ZP87", "url": "https://www.uniprot.org/uniprotkb/D3ZP87" } ], "pmid": "" }, { "name": "membrane tubulation", "id": "GO:0097749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097749", "evidence": [ { "database": "UniProtKB", "id": "D3ZP87", "url": "https://www.uniprot.org/uniprotkb/D3ZP87" } ], "pmid": "" }, { "name": "positive regulation of smoothened signaling pathway", "id": "GO:0045880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045880", "evidence": [ { "database": "UniProtKB", "id": "D3ZP87", "url": "https://www.uniprot.org/uniprotkb/D3ZP87" } ], "pmid": "" }, { "name": "membrane organization", "id": "GO:0061024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061024", "evidence": [ { "database": "UniProtKB", "id": "D3ZP87", "url": "https://www.uniprot.org/uniprotkb/D3ZP87" } ], "pmid": "" }, { "name": "limb morphogenesis", "id": "GO:0035108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035108", "evidence": [ { "database": "UniProtKB", "id": "D3ZP87", "url": "https://www.uniprot.org/uniprotkb/D3ZP87" } ], "pmid": "" }, { "name": "inner mitochondrial membrane organization", "id": "GO:0007007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007007", "evidence": [ { "database": "UniProtKB", "id": "D3ZP87", "url": "https://www.uniprot.org/uniprotkb/D3ZP87" } ], "pmid": "" } ], "molecular_function": [ { "name": "phospholipid binding", "id": "GO:0005543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005543", "evidence": [ { "database": "UniProtKB", "id": "D3ZP87", "url": "https://www.uniprot.org/uniprotkb/D3ZP87" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": 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"Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 559, "chemical_mass": 57427.0, "gene_names": "Foxo6;Foxo6", "protein_name": "", "disease": [ { "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 } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "D3ZV21", "url": "https://www.uniprot.org/uniprotkb/D3ZV21" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "D3ZV21", "url": "https://www.uniprot.org/uniprotkb/D3ZV21" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "D3ZV21", "url": "https://www.uniprot.org/uniprotkb/D3ZV21" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "D3ZV21", "url": "https://www.uniprot.org/uniprotkb/D3ZV21" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "D3ZV21", "url": "https://www.uniprot.org/uniprotkb/D3ZV21" } ], "pmid": "" }, { "name": "positive regulation of dendritic spine development", "id": "GO:0060999", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060999", "evidence": [ { "database": "UniProtKB", "id": "D3ZV21", "url": 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"end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr786", "evidence": [ { "id": "GLY_001157", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001157" } ] } ] } ], "record_id": "F1M5K2-1" }, { "uniprot_canonical_ac": "D3ZYV3-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D3ZYV3", "url": "https://www.uniprot.org/uniprotkb/D3ZYV3" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 348, "chemical_mass": 38443.0, "gene_names": "Pglyrp3;LOC134485743", "protein_name": "", "disease": [], "molecular_function": [ { "name": "N-acetylmuramoyl-L-alanine amidase activity", "id": "GO:0008745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008745", "evidence": [ { "database": "UniProtKB", "id": "D3ZYV3", "url": "https://www.uniprot.org/uniprotkb/D3ZYV3" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002376", "evidence": [ { "database": "UniProtKB", "id": "D3ZYV3", "url": "https://www.uniprot.org/uniprotkb/D3ZYV3" } ], "pmid": "" }, { "name": "peptidoglycan catabolic process", "id": "GO:0009253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009253", "evidence": [ { "database": "UniProtKB", "id": "D3ZYV3", "url": "https://www.uniprot.org/uniprotkb/D3ZYV3" } ], "pmid": "" }, { "name": "regulation of multicellular organismal process", "id": "GO:0051239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051239", "evidence": [ { "database": "UniProtKB", "id": "D3ZYV3", "url": "https://www.uniprot.org/uniprotkb/D3ZYV3" } ], "pmid": "" }, { "name": "negative regulation of natural killer cell differentiation involved in immune response", "id": "GO:0032827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032827", "evidence": [ { "database": "UniProtKB", "id": "D3ZYV3", "url": "https://www.uniprot.org/uniprotkb/D3ZYV3" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "D3ZYV3", "url": "https://www.uniprot.org/uniprotkb/D3ZYV3" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "D3ZYV3", "url": "https://www.uniprot.org/uniprotkb/D3ZYV3" } ], "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": "D3ZYV3", "url": "https://www.uniprot.org/uniprotkb/D3ZYV3" } ], "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": "D3ZYV3", "url": "https://www.uniprot.org/uniprotkb/D3ZYV3" } ], "pmid": "" }, { "name": "detection of bacterium", "id": "GO:0016045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016045", "evidence": [ { "database": "UniProtKB", "id": "D3ZYV3", "url": "https://www.uniprot.org/uniprotkb/D3ZYV3" } ], "pmid": "" }, { "name": "negative regulation of type II interferon production", "id": "GO:0032689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032689", "evidence": [ { "database": "UniProtKB", "id": "D3ZYV3", "url": "https://www.uniprot.org/uniprotkb/D3ZYV3" } ], "pmid": "" }, { "name": "biological process involved in interaction with host", "id": "GO:0051701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051701", "evidence": [ { "database": "UniProtKB", "id": "D3ZYV3", "url": "https://www.uniprot.org/uniprotkb/D3ZYV3" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "D3ZYV3", "url": 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MSH6 gene on chromosome 2p16.", "url": "https://disease-ontology.org/term/DOID:0070272", "evidence": [ { "id": "0070272", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070272" } ], "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:0112182", "name": "mismatch repair cancer syndrome", "description": "A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes MLH1, MSH2, 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"damaged DNA binding", "id": "GO:0003684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003684", "evidence": [ { "database": "UniProtKB", "id": "D4A0U9", "url": "https://www.uniprot.org/uniprotkb/D4A0U9" } ], "pmid": "" }, { "name": "ADP binding", "id": "GO:0043531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043531", "evidence": [ { "database": "UniProtKB", "id": "D4A0U9", "url": "https://www.uniprot.org/uniprotkb/D4A0U9" } ], "pmid": "" }, { "name": "four-way junction DNA binding", "id": "GO:0000400", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000400", "evidence": [ { "database": "UniProtKB", "id": "D4A0U9", "url": "https://www.uniprot.org/uniprotkb/D4A0U9" } ], "pmid": "" }, { "name": "ATP-dependent activity, acting on DNA", "id": "GO:0008094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008094", "evidence": [ { "database": "UniProtKB", "id": "D4A0U9", "url": "https://www.uniprot.org/uniprotkb/D4A0U9" } ], "pmid": "" }, { "name": "MutLalpha complex binding", "id": "GO:0032405", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032405", "evidence": [ { "database": "UniProtKB", "id": "D4A0U9", "url": "https://www.uniprot.org/uniprotkb/D4A0U9" } ], "pmid": "" }, { "name": "guanine/thymine mispair binding", "id": "GO:0032137", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032137", "evidence": [ { "database": "UniProtKB", "id": "D4A0U9", "url": "https://www.uniprot.org/uniprotkb/D4A0U9" } ], "pmid": "" }, { "name": "histone H3K36me3 reader activity", "id": "GO:0140003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140003", "evidence": [ { "database": "UniProtKB", "id": "D4A0U9", "url": "https://www.uniprot.org/uniprotkb/D4A0U9" } ], "pmid": "" } ], "biological_process": [ { "name": "mismatch repair", "id": "GO:0006298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006298", "evidence": [ { "database": "UniProtKB", "id": "D4A0U9", "url": "https://www.uniprot.org/uniprotkb/D4A0U9" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": 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system cancer that are manifested in the central nervous system and arise from the arachnoid cap cells of the arachnoid villi in the meninges.", "url": "https://disease-ontology.org/term/DOID:3565", "evidence": [ { "id": "3565", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3565" } ], "weight": 0.0 }, { "disease_id": "DOID:3620", "name": "central nervous system cancer", "description": "A nervous system cancer that is located_in the central nervous system.", "url": "https://disease-ontology.org/term/DOID:3620", "evidence": [ { "id": "3620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3620" } ], "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": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0031297", "evidence": [ { "database": "UniProtKB", "id": "D4A5N4", "url": "https://www.uniprot.org/uniprotkb/D4A5N4" } ], "pmid": "" }, { "name": "telomere maintenance via telomere trimming", "id": "GO:0090737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090737", "evidence": [ { "database": "UniProtKB", "id": "D4A5N4", "url": "https://www.uniprot.org/uniprotkb/D4A5N4" } ], "pmid": "" }, { "name": "telomere maintenance via recombination", "id": "GO:0000722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000722", "evidence": [ { "database": "UniProtKB", "id": "D4A5N4", "url": "https://www.uniprot.org/uniprotkb/D4A5N4" } ], "pmid": "" }, { "name": "positive regulation of mitotic cell cycle spindle assembly checkpoint", "id": "GO:0090267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090267", "evidence": [ { "database": "UniProtKB", "id": "D4A5N4", "url": "https://www.uniprot.org/uniprotkb/D4A5N4" } ], "pmid": "" }, { "name": "resolution of 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"pmid": "" }, { "name": "cytosolic small ribosomal subunit", "id": "GO:0022627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022627", "evidence": [ { "database": "UniProtKB", "id": "D4A5N7", "url": "https://www.uniprot.org/uniprotkb/D4A5N7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D4A5N7-1" }, { "uniprot_canonical_ac": "D4A651-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D4A651", "url": "https://www.uniprot.org/uniprotkb/D4A651" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 919, "chemical_mass": 103712.0, "gene_names": "Pms1;Pms1", "protein_name": "", "disease": [ { "disease_id": "DOID:0080745", "name": "polymyositis", "description": "A myositis that is characterized by muscle weakness affecting both sides of your body.", "url": "https://disease-ontology.org/term/DOID:0080745", "evidence": [ { "id": 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"site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 288, "start_aa": "Thr", "end_pos": 288, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr288", "evidence": [ { "id": "GLY_001157", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001157" } ] } ] } ], "record_id": "D4AE38-1" }, { "uniprot_canonical_ac": "D4AE42-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D4AE42", "url": "https://www.uniprot.org/uniprotkb/D4AE42" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 145, "chemical_mass": 17165.0, "gene_names": "Rpl26-ps1", "protein_name": "Large ribosomal subunit protein uL24", "disease": [ { "disease_id": "DOID:0111892", "name": "Diamond-Blackfan anemia 11", "description": "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL26 gene on 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"name": "cytoplasmic translation", "id": "GO:0002181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002181", "evidence": [ { "database": "UniProtKB", "id": "D4AE42", "url": "https://www.uniprot.org/uniprotkb/D4AE42" } ], "pmid": "" }, { "name": "translation", "id": "GO:0006412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006412", "evidence": [ { "database": "UniProtKB", "id": "D4AE42", "url": "https://www.uniprot.org/uniprotkb/D4AE42" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosolic large ribosomal subunit", "id": "GO:0022625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022625", "evidence": [ { "database": "UniProtKB", "id": "D4AE42", "url": "https://www.uniprot.org/uniprotkb/D4AE42" } ], "pmid": "" }, { "name": "large ribosomal subunit", "id": "GO:0015934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015934", "evidence": [ { "database": "UniProtKB", "id": "D4AE42", "url": "https://www.uniprot.org/uniprotkb/D4AE42" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D4AE42-1" }, { "uniprot_canonical_ac": "D4AEK9-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D4AEK9", "url": "https://www.uniprot.org/uniprotkb/D4AEK9" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 470, "chemical_mass": 52974.0, "gene_names": "Ccdc6;Ccdc6", "protein_name": "", "disease": [], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "D4AEK9", "url": "https://www.uniprot.org/uniprotkb/D4AEK9" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "D4AEK9", "url": "https://www.uniprot.org/uniprotkb/D4AEK9" } ], "pmid": "" } ], 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"id": "E9PT25", "url": "https://www.uniprot.org/uniprotkb/E9PT25" } ], "pmid": "" }, { "name": "negative regulation of tumor necrosis factor production", "id": "GO:0032720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032720", "evidence": [ { "database": "UniProtKB", "id": "E9PT25", "url": "https://www.uniprot.org/uniprotkb/E9PT25" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "E9PT25", "url": "https://www.uniprot.org/uniprotkb/E9PT25" } ], "pmid": "" }, { "name": "negative regulation of cytokine production", "id": "GO:0001818", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001818", "evidence": [ { "database": "UniProtKB", "id": "E9PT25", "url": "https://www.uniprot.org/uniprotkb/E9PT25" } ], "pmid": "" }, { "name": "antifungal innate immune response", "id": "GO:0061760", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061760", "evidence": [ { "database": "UniProtKB", "id": "E9PT25", "url": "https://www.uniprot.org/uniprotkb/E9PT25" } ], "pmid": "" }, { "name": "plasmacytoid dendritic cell antigen processing and presentation", "id": "GO:0002470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002470", "evidence": [ { "database": "UniProtKB", "id": "E9PT25", "url": "https://www.uniprot.org/uniprotkb/E9PT25" } ], "pmid": "" } ], "cellular_component": [ { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "E9PT25", "url": "https://www.uniprot.org/uniprotkb/E9PT25" } ], "pmid": "" } ], "molecular_function": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "E9PT25", "url": "https://www.uniprot.org/uniprotkb/E9PT25" } ], "pmid": "" }, { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "E9PT25", "url": "https://www.uniprot.org/uniprotkb/E9PT25" } ], "pmid": "" }, { "name": "D-mannose binding", "id": "GO:0005537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005537", "evidence": [ { "database": "UniProtKB", "id": "E9PT25", "url": "https://www.uniprot.org/uniprotkb/E9PT25" } ], "pmid": "" }, { "name": "pattern recognition receptor activity", "id": "GO:0038187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038187", "evidence": [ { "database": "UniProtKB", "id": "E9PT25", "url": "https://www.uniprot.org/uniprotkb/E9PT25" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E9PT25-1" }, { "uniprot_canonical_ac": "E9PTD9-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 784, "chemical_mass": 89426.0, "gene_names": "Tlr2;Tlr2", "protein_name": "Toll-like receptor 2", "disease": [ { "disease_id": "DOID:0050127", "name": "sinusitis", "description": "A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip.", "url": "https://disease-ontology.org/term/DOID:0050127", "evidence": [ { "id": "0050127", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050127" } ], "weight": 0.0 }, { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0050855", "name": "renal fibrosis", "description": "A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function.", "url": "https://disease-ontology.org/term/DOID:0050855", "evidence": [ { "id": "0050855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050855" } ], "weight": 0.0 }, { "disease_id": "DOID:0060189", "name": "ileitis", "description": "An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss.", "url": "https://disease-ontology.org/term/DOID:0060189", "evidence": [ { "id": "0060189", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060189" } ], "weight": 0.0 }, { "disease_id": "DOID:0060224", "name": "atrial fibrillation", "description": "A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.", "url": "https://disease-ontology.org/term/DOID:0060224", "evidence": [ { "id": "0060224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060224" } ], "weight": 0.0 }, { "disease_id": "DOID:0060322", "name": "mastoiditis", "description": "A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process.", "url": "https://disease-ontology.org/term/DOID:0060322", "evidence": [ { "id": "0060322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060322" } ], "weight": 0.0 }, { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:0080176", "name": "meningococcal meningitis", "description": "A bacterial meningitis that has_material_basis_in Neisseria meningitidis infection.", "url": "https://disease-ontology.org/term/DOID:0080176", "evidence": [ { "id": "0080176", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080176" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0080784", "name": "urinary tract infection", "description": "An urinary system disease that is characterized by an infection in any part of the urinary system, including the kidneys, ureters, bladder or urethra.", "url": "https://disease-ontology.org/term/DOID:0080784", "evidence": [ { "id": "0080784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080784" } ], "weight": 0.0 }, { "disease_id": "DOID:0080998", "name": "acute necrotizing pancreatitis", "description": "An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems.", "url": "https://disease-ontology.org/term/DOID:0080998", "evidence": [ { "id": "0080998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080998" } ], "weight": 0.0 }, { "disease_id": "DOID:10074", "name": "hymenolepiasis", "description": "A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness.", "url": "https://disease-ontology.org/term/DOID:10074", "evidence": [ { "id": "10074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10074" } ], "weight": 0.0 }, { "disease_id": "DOID:10140", "name": "dry eye syndrome", "description": "A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface.", "url": "https://disease-ontology.org/term/DOID:10140", "evidence": [ { "id": "10140", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10140" } ], "weight": 0.0 }, { "disease_id": "DOID:10223", "name": "dermatomyositis", "description": "A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction.", "url": "https://disease-ontology.org/term/DOID:10223", "evidence": [ { "id": "10223", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10223" } ], "weight": 0.0 }, { "disease_id": "DOID:1024", "name": "leprosy", "description": "A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage.", "url": "https://disease-ontology.org/term/DOID:1024", "evidence": [ { "id": "1024", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1024" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID:1074", "name": "kidney failure", "description": "A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood.", "url": "https://disease-ontology.org/term/DOID:1074", "evidence": [ { "id": "1074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1074" } ], "weight": 0.0 }, { "disease_id": "DOID:10754", "name": "otitis media", "description": "A otitis which involves inflammation of the middle ear.", "url": "https://disease-ontology.org/term/DOID:10754", "evidence": [ { "id": "10754", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10754" } ], "weight": 0.0 }, { "disease_id": "DOID:10873", "name": "Kuhnt-Junius degeneration", "description": "", "url": "https://disease-ontology.org/term/DOID:10873", "evidence": [ { "id": "10873", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10873" } ], "weight": 0.0 }, { "disease_id": "DOID:10964", "name": "cholesteatoma of middle ear", "description": "", "url": "https://disease-ontology.org/term/DOID:10964", "evidence": [ { "id": "10964", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10964" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:11168", "name": "anogenital venereal wart", "description": "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts.", "url": "https://disease-ontology.org/term/DOID:11168", "evidence": [ { "id": "11168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11168" } ], "weight": 0.0 }, { "disease_id": "DOID:11506", "name": "suppurative otitis media", "description": "A otitis media which involves inflammation of the middle ear with infected effusion containing pus.", "url": "https://disease-ontology.org/term/DOID:11506", "evidence": [ { "id": "11506", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11506" } ], "weight": 0.0 }, { "disease_id": "DOID:12148", "name": "alveolar echinococcosis", "description": "An echinococcosis that is caused by the larvae of Echinococcus multilocularis affecting the liver as a slow growing, destructive tumor, with abdominal pain, biliary obstruction, and occasionally metastatic lesions into the lungs and brain.", "url": "https://disease-ontology.org/term/DOID:12148", "evidence": [ { "id": "12148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12148" } ], "weight": 0.0 }, { "disease_id": "DOID:12306", "name": "vitiligo", "description": "An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.", "url": "https://disease-ontology.org/term/DOID:12306", "evidence": [ { "id": "12306", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12306" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:13809", "name": "familial combined hyperlipidemia", "description": "", "url": "https://disease-ontology.org/term/DOID:13809", "evidence": [ { "id": "13809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13809" } ], "weight": 0.0 }, { "disease_id": "DOID:14018", "name": "alcoholic liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:14018", "evidence": [ { "id": "14018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14018" } ], "weight": 0.0 }, { "disease_id": "DOID:1407", "name": "anterior uveitis", "description": "", "url": "https://disease-ontology.org/term/DOID:1407", "evidence": [ { "id": "1407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1407" } ], "weight": 0.0 }, { "disease_id": "DOID:1495", "name": "cystic echinococcosis", "description": "An echinococcosis that is caused by the larvae of Echinococcus granulosus. Hepatic involvement can result in abdominal pain, a mass in the hepatic area, and biliary duct obstruction. Pulmonary involvement can produce chest pain, cough, and hemoptysis. Rupture of the cysts produce fever, urticaria, eosinophilia, and anaphylactic shock, as well as cyst dissemination. Brain, bone, heart can also be infected.", "url": "https://disease-ontology.org/term/DOID:1495", "evidence": [ { "id": "1495", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1495" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1580", "name": "diffuse scleroderma", "description": "", "url": "https://disease-ontology.org/term/DOID:1580", "evidence": [ { "id": "1580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1580" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3178", "name": "skin papilloma", "description": "A skin benign neoplasm that is composed of epithelial cells and a fibrous stalk.", "url": "https://disease-ontology.org/term/DOID:3178", "evidence": [ { "id": "3178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3178" } ], "weight": 0.0 }, { "disease_id": "DOID:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:399", "name": "tuberculosis", "description": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.", "url": "https://disease-ontology.org/term/DOID:399", "evidence": [ { "id": "399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:399" } ], "weight": 0.0 }, { "disease_id": "DOID:4194", "name": "glucose metabolism disease", "description": "A carbohydrate metabolic disorder that is characterized by blood glucose levels which cannot be maintained within the normal range.", "url": "https://disease-ontology.org/term/DOID:4194", "evidence": [ { "id": "4194", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4194" } ], "weight": 0.0 }, { "disease_id": "DOID:4481", "name": "allergic rhinitis", "description": "A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.", "url": "https://disease-ontology.org/term/DOID:4481", "evidence": [ { "id": "4481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4481" } ], "weight": 0.0 }, { "disease_id": "DOID:4483", "name": "rhinitis", "description": "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.", "url": "https://disease-ontology.org/term/DOID:4483", "evidence": [ { "id": "4483", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4483" } ], "weight": 0.0 }, { "disease_id": "DOID:4677", "name": "keratitis", "description": "A corneal disease that is characterized by inflammation of the cornea.", "url": "https://disease-ontology.org/term/DOID:4677", "evidence": [ { "id": "4677", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4677" } ], "weight": 0.0 }, { "disease_id": "DOID:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas.", "url": "https://disease-ontology.org/term/DOID:4989", "evidence": [ { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" } ], "weight": 0.0 }, { "disease_id": "DOID:5614", "name": "eye disease", "description": "An eye and adnexa disease that is located_in the eye.", "url": "https://disease-ontology.org/term/DOID:5614", "evidence": [ { "id": "5614", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5614" } ], "weight": 0.0 }, { "disease_id": "DOID:580", "name": "uric acid nephrolithiasis", "description": "A nephrolithiasis that is characterized by stones composed predominantly uric acid.", "url": "https://disease-ontology.org/term/DOID:580", "evidence": [ { "id": "580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:580" } ], "weight": 0.0 }, { "disease_id": "DOID:612", "name": "primary immunodeficiency disease", "description": "An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation.", "url": "https://disease-ontology.org/term/DOID:612", "evidence": [ { "id": "612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:612" } ], "weight": 0.0 }, { "disease_id": "DOID:6543", "name": "acne", "description": "A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring.", "url": "https://disease-ontology.org/term/DOID:6543", "evidence": [ { "id": "6543", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6543" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:8283", "name": "peritonitis", "description": "A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output.", "url": "https://disease-ontology.org/term/DOID:8283", "evidence": [ { "id": "8283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8283" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:8534", "name": "gastroesophageal reflux disease", "description": "", "url": "https://disease-ontology.org/term/DOID:8534", "evidence": [ { "id": "8534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8534" } ], "weight": 0.0 }, { "disease_id": "DOID:854", "name": "collagen disease", "description": "A connective tissue disease that characterized by connective tissue disease that has_material_basis_in inheritable defects in collagen.", "url": "https://disease-ontology.org/term/DOID:854", "evidence": [ { "id": "854", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:854" } ], "weight": 0.0 }, { "disease_id": "DOID:8677", "name": "perinatal necrotizing enterocolitis", "description": "", "url": "https://disease-ontology.org/term/DOID:8677", "evidence": [ { "id": "8677", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8677" } ], "weight": 0.0 }, { "disease_id": "DOID:869", "name": "cholesteatoma", "description": "A keratosis that is characterized by keratinizing squamous epithelium located in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction.", "url": "https://disease-ontology.org/term/DOID:869", "evidence": [ { "id": "869", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:869" } ], "weight": 0.0 }, { "disease_id": "DOID:874", "name": "bacterial pneumonia", "description": "A pneumonia involving inflammation of the lungs caused by bacteria.", "url": "https://disease-ontology.org/term/DOID:874", "evidence": [ { "id": "874", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:874" } ], "weight": 0.0 }, { "disease_id": "DOID:8741", "name": "seborrheic dermatitis", "description": "A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss.", "url": "https://disease-ontology.org/term/DOID:8741", "evidence": [ { "id": "8741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8741" } ], "weight": 0.0 }, { "disease_id": "DOID:8867", "name": "molluscum contagiosum", "description": "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Molluscum contagiosum virus (Molluscipoxvirus molluscum), which is transmitted_by contact with the skin, and transmitted_by fomites. The infection has_symptom lesions which are flesh-colored with a pit in the center.", "url": "https://disease-ontology.org/term/DOID:8867", "evidence": [ { "id": "8867", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8867" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:9111", "name": "cutaneous leishmaniasis", "description": "A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions.", "url": "https://disease-ontology.org/term/DOID:9111", "evidence": [ { "id": "9111", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9111" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9368", "name": "keratoconjunctivitis", "description": "", "url": "https://disease-ontology.org/term/DOID:9368", "evidence": [ { "id": "9368", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9368" } ], "weight": 0.0 }, { "disease_id": "DOID: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": "triacyl lipopeptide binding", "id": "GO:0042497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042497", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "transmembrane signaling receptor activity", "id": "GO:0004888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004888", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "peptidoglycan binding", "id": "GO:0042834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042834", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "amyloid-beta binding", "id": "GO:0001540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001540", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "lipopolysaccharide binding", "id": "GO:0001530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001530", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "Toll-like receptor binding", "id": "GO:0035325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035325", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "lipopeptide binding", "id": "GO:0071723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071723", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "pattern recognition receptor activity", "id": "GO:0038187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038187", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "diacyl lipopeptide binding", "id": "GO:0042498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042498", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "lipoteichoic acid binding", "id": "GO:0070891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070891", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "phagocytic vesicle membrane", "id": "GO:0030670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030670", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "plasma membrane raft", "id": "GO:0044853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044853", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "cell body", "id": "GO:0044297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044297", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "Toll-like receptor 1-Toll-like receptor 2 protein complex", "id": "GO:0035354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035354", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "Toll-like receptor 2-Toll-like receptor 6 protein complex", "id": "GO:0035355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035355", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" } ], "biological_process": [ { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "toll-like receptor signaling pathway", "id": "GO:0002224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002224", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "regulation of tumor necrosis factor production", "id": "GO:0032680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032680", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "nitric oxide metabolic process", "id": "GO:0046209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046209", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "positive regulation of interleukin-18 production", "id": "GO:0032741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032741", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "central nervous system myelin formation", "id": "GO:0032289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032289", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "negative regulation of interleukin-17 production", "id": "GO:0032700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032700", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "regulation of dendritic cell cytokine production", "id": "GO:0002730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002730", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "detection of diacyl bacterial lipopeptide", "id": "GO:0042496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042496", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "cellular response to bacterial lipopeptide", "id": "GO:0071221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071221", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "positive regulation of matrix metallopeptidase secretion", "id": "GO:1904466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904466", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "microglial cell activation", "id": "GO:0001774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001774", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "defense response", "id": "GO:0006952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006952", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "learning", "id": "GO:0007612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007612", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "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": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "microglia development", "id": "GO:0014005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014005", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "positive regulation of nitric oxide biosynthetic process", "id": "GO:0045429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045429", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "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": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "positive regulation of oligodendrocyte differentiation", "id": "GO:0048714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048714", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "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": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "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": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "positive regulation of chemokine production", "id": "GO:0032722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032722", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "positive regulation of interleukin-6 production", "id": "GO:0032755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032755", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "response to progesterone", "id": "GO:0032570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032570", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "response to insulin", "id": "GO:0032868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032868", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis", "id": "GO:0050766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050766", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": 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} ], "pmid": "" }, { "name": "detection of triacyl bacterial lipopeptide", "id": "GO:0042495", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042495", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "cellular response to peptidoglycan", "id": "GO:0071224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071224", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "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": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "toll-like receptor 2 signaling pathway", "id": "GO:0034134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034134", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": 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"name": "positive regulation of xenophagy", "id": "GO:1904417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904417", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "cell surface pattern recognition receptor signaling pathway", "id": "GO:0002752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002752", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "positive regulation of cellular response to macrophage colony-stimulating factor stimulus", "id": "GO:1903974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903974", "evidence": [ { "database": "UniProtKB", "id": "E9PTD9", "url": "https://www.uniprot.org/uniprotkb/E9PTD9" } ], "pmid": "" }, { "name": "negative regulation of synapse assembly", "id": "GO:0051964", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051964", "evidence": [ { "database": "UniProtKB", 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"protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E9PTU6-1" }, { "uniprot_canonical_ac": "F1LMB6-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "F1LMB6", "url": "https://www.uniprot.org/uniprotkb/F1LMB6" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 712, "chemical_mass": 80909.0, "gene_names": "Adam34;Adam26b;Adam34", "protein_name": "", "disease": [], "molecular_function": [ { "name": "metalloendopeptidase activity", "id": "GO:0004222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004222", "evidence": [ { "database": "UniProtKB", "id": "F1LMB6", "url": "https://www.uniprot.org/uniprotkb/F1LMB6" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "F1LMB6", "url": 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The disease is associated with mutations in the FGFR2 gene.", "url": "https://disease-ontology.org/term/DOID:2339", "evidence": [ { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" } ], "weight": 0.0 }, { "disease_id": "DOID:2340", "name": "craniosynostosis", "description": "A synostosis that results_in premature fusion located_in skull.", "url": "https://disease-ontology.org/term/DOID:2340", "evidence": [ { "id": "2340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2340" } ], "weight": 0.0 }, { "disease_id": "DOID: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 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"database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis", "id": "GO:0060527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060527", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "endodermal digestive tract morphogenesis", "id": "GO:0061031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061031", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "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": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "neuromuscular junction development", "id": "GO:0007528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007528", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "peptidyl-tyrosine phosphorylation", "id": "GO:0018108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018108", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "epithelial cell differentiation", "id": "GO:0030855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030855", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "inner ear morphogenesis", "id": "GO:0042472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042472", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "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": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "lung alveolus development", "id": "GO:0048286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048286", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "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": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "cellular response to retinoic acid", "id": "GO:0071300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071300", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "post-embryonic development", "id": "GO:0009791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009791", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "animal organ morphogenesis", "id": "GO:0009887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "morphogenesis of embryonic epithelium", "id": "GO:0016331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016331", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "positive regulation of cell division", "id": "GO:0051781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051781", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "positive regulation of vascular associated smooth muscle cell proliferation", "id": "GO:1904707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904707", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "negative regulation of keratinocyte proliferation", "id": "GO:0010839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010839", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "cellular response to transforming growth factor beta stimulus", "id": "GO:0071560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071560", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "odontogenesis", "id": "GO:0042476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042476", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "positive regulation of cell cycle", "id": "GO:0045787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045787", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "embryonic cranial skeleton morphogenesis", "id": "GO:0048701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048701", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "bone development", "id": "GO:0060348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060348", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "bone morphogenesis", "id": "GO:0060349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060349", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "positive regulation of canonical Wnt signaling pathway", "id": "GO:0090263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090263", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "epithelial to mesenchymal transition", "id": "GO:0001837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001837", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "branching involved in labyrinthine layer morphogenesis", "id": "GO:0060670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060670", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "digestive tract development", "id": "GO:0048565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048565", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "organ growth", "id": "GO:0035265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035265", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "negative regulation of mitotic nuclear division", "id": "GO:0045839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045839", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "regulation of smoothened signaling pathway", "id": "GO:0008589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008589", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "regulation of ERK1 and ERK2 cascade", "id": "GO:0070372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070372", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "positive regulation of phospholipase activity", "id": "GO:0010518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010518", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "pyramidal neuron development", "id": "GO:0021860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021860", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "hair follicle morphogenesis", "id": "GO:0031069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031069", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell proliferation", "id": "GO:0050679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050679", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "ureteric bud development", "id": "GO:0001657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001657", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "orbitofrontal cortex development", "id": "GO:0021769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021769", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": "" }, { "name": "embryonic organ development", "id": "GO:0048568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048568", "evidence": [ { "database": "UniProtKB", "id": "F1LSG7", "url": "https://www.uniprot.org/uniprotkb/F1LSG7" } ], "pmid": 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"comment": "", "icn3d_view": {}, "start_pos": 703, "start_aa": "Thr", "end_pos": 703, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr703", "evidence": [ { "id": "GLY_001157", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001157" } ] } ] } ], "record_id": "F1LNR1-1" }, { "uniprot_canonical_ac": "D3ZXT2-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D3ZXT2", "url": "https://www.uniprot.org/uniprotkb/D3ZXT2" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 1231, "chemical_mass": 141307.0, "gene_names": "Stag2;RGD1562042;Stag2", "protein_name": "Cohesin subunit SA", "disease": [ { "disease_id": "DOID:0060954", "name": "Holoprosencephaly 13, X-linked", "description": "A holoprosencephaly characterized by midline developmental defects that mainly affect the brain and craniofacial structure that has_material_basis_in heterozygous mutation in the 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"https://www.uniprot.org/uniprotkb/D3ZXT2" } ], "pmid": "" }, { "name": "mitotic spindle pole", "id": "GO:0097431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097431", "evidence": [ { "database": "UniProtKB", "id": "D3ZXT2", "url": "https://www.uniprot.org/uniprotkb/D3ZXT2" } ], "pmid": "" }, { "name": "cohesin complex", "id": "GO:0008278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008278", "evidence": [ { "database": "UniProtKB", "id": "D3ZXT2", "url": "https://www.uniprot.org/uniprotkb/D3ZXT2" } ], "pmid": "" }, { "name": "mitotic cohesin complex", "id": "GO:0030892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030892", "evidence": [ { "database": "UniProtKB", "id": "D3ZXT2", "url": "https://www.uniprot.org/uniprotkb/D3ZXT2" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "D3ZXT2", "url": "https://www.uniprot.org/uniprotkb/D3ZXT2" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "D3ZXT2", "url": "https://www.uniprot.org/uniprotkb/D3ZXT2" } ], "pmid": "" } ], "biological_process": [ { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "D3ZXT2", "url": "https://www.uniprot.org/uniprotkb/D3ZXT2" } ], "pmid": "" }, { "name": "mitotic spindle assembly", "id": "GO:0090307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090307", "evidence": [ { "database": "UniProtKB", "id": "D3ZXT2", "url": "https://www.uniprot.org/uniprotkb/D3ZXT2" } ], "pmid": "" }, { "name": "sister chromatid cohesion", "id": "GO:0007062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007062", "evidence": [ { "database": "UniProtKB", "id": "D3ZXT2", "url": "https://www.uniprot.org/uniprotkb/D3ZXT2" } ], "pmid": "" }, { "name": "stem cell population maintenance", "id": "GO:0019827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019827", "evidence": [ { "database": "UniProtKB", "id": "D3ZXT2", "url": "https://www.uniprot.org/uniprotkb/D3ZXT2" } ], "pmid": "" } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "D3ZXT2", "url": "https://www.uniprot.org/uniprotkb/D3ZXT2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D3ZXT2-1" }, { "uniprot_canonical_ac": "F1MAP4-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "F1MAP4", "url": "https://www.uniprot.org/uniprotkb/F1MAP4" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 1145, "chemical_mass": 122806.0, "gene_names": "Megf10;Megf10", "protein_name": "Multiple epidermal growth factor-like domains protein 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Biallelic mutation in the MEGF10 gene also causes a more severe congenital myopathy with overlapping features.", "url": "https://disease-ontology.org/term/DOID:0081345", "evidence": [ { "id": "0081345", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081345" } ], "weight": 0.0 }, { "disease_id": "DOID:0111333", "name": "congenital myopathy 10A", "description": "A congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in MEGF10 on chromosome 5q23.2.", "url": "https://disease-ontology.org/term/DOID:0111333", "evidence": [ { "id": "0111333", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111333" } ], "weight": 0.0 }, { "disease_id": "DOID:1289", "name": "neurodegenerative disease", "description": "A central nervous system disease that results in the progressive deterioration of function 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"https://www.uniprot.org/uniprotkb/F1MAP4" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of cell-cell adhesion", "id": "GO:0022409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022409", "evidence": [ { "database": "UniProtKB", "id": "F1MAP4", "url": "https://www.uniprot.org/uniprotkb/F1MAP4" } ], "pmid": "" }, { "name": "skeletal muscle satellite cell differentiation", "id": "GO:0014816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014816", "evidence": [ { "database": "UniProtKB", "id": "F1MAP4", "url": "https://www.uniprot.org/uniprotkb/F1MAP4" } ], "pmid": "" }, { "name": "homotypic cell-cell adhesion", "id": "GO:0034109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034109", "evidence": [ { "database": "UniProtKB", "id": "F1MAP4", "url": "https://www.uniprot.org/uniprotkb/F1MAP4" } ], "pmid": "" }, { "name": "myelination", "id": "GO:0042552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042552", "evidence": [ { "database": "UniProtKB", "id": "F1MAP4", "url": "https://www.uniprot.org/uniprotkb/F1MAP4" } ], "pmid": "" }, { "name": "engulfment of apoptotic cell", "id": "GO:0043652", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043652", "evidence": [ { "database": "UniProtKB", "id": "F1MAP4", "url": "https://www.uniprot.org/uniprotkb/F1MAP4" } ], "pmid": "" }, { "name": "myoblast migration", "id": "GO:0051451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051451", "evidence": [ { "database": "UniProtKB", "id": "F1MAP4", "url": "https://www.uniprot.org/uniprotkb/F1MAP4" } ], "pmid": "" }, { "name": "positive regulation of myoblast proliferation", "id": "GO:2000288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000288", "evidence": [ { "database": "UniProtKB", "id": "F1MAP4", "url": "https://www.uniprot.org/uniprotkb/F1MAP4" } ], "pmid": "" }, { "name": "myoblast development", "id": "GO:0048627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048627", "evidence": [ { "database": "UniProtKB", "id": "F1MAP4", "url": "https://www.uniprot.org/uniprotkb/F1MAP4" } ], "pmid": "" }, { "name": "muscle cell development", "id": "GO:0055001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055001", "evidence": [ { "database": "UniProtKB", "id": "F1MAP4", "url": "https://www.uniprot.org/uniprotkb/F1MAP4" } ], "pmid": "" }, { "name": "regulation of muscle cell differentiation", "id": "GO:0051147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051147", "evidence": [ { "database": "UniProtKB", "id": "F1MAP4", "url": "https://www.uniprot.org/uniprotkb/F1MAP4" } ], "pmid": "" }, { "name": "skeletal muscle satellite cell proliferation", "id": "GO:0014841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014841", "evidence": [ { "database": "UniProtKB", "id": "F1MAP4", "url": "https://www.uniprot.org/uniprotkb/F1MAP4" } ], "pmid": "" }, { "name": "muscle cell proliferation", "id": "GO:0033002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033002", "evidence": [ { "database": "UniProtKB", "id": "F1MAP4", "url": "https://www.uniprot.org/uniprotkb/F1MAP4" } ], "pmid": "" }, { "name": "regulation of skeletal muscle tissue development", "id": "GO:0048641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048641", "evidence": [ { "database": "UniProtKB", "id": "F1MAP4", "url": "https://www.uniprot.org/uniprotkb/F1MAP4" } ], "pmid": "" }, { "name": "apoptotic process involved in development", "id": "GO:1902742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902742", "evidence": [ { "database": "UniProtKB", "id": "F1MAP4", "url": "https://www.uniprot.org/uniprotkb/F1MAP4" } ], "pmid": "" }, { "name": "skeletal muscle satellite cell activation", "id": "GO:0014719", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014719", "evidence": [ { "database": "UniProtKB", "id": "F1MAP4", "url": "https://www.uniprot.org/uniprotkb/F1MAP4" } ], "pmid": "" }, { "name": "recognition of apoptotic cell", "id": "GO:0043654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043654", "evidence": [ { "database": "UniProtKB", "id": "F1MAP4", "url": "https://www.uniprot.org/uniprotkb/F1MAP4" } ], "pmid": "" } ], "molecular_function": [ { "name": "scavenger receptor activity", "id": "GO:0005044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005044", "evidence": [ { "database": "UniProtKB", "id": "F1MAP4", "url": "https://www.uniprot.org/uniprotkb/F1MAP4" } ], "pmid": "" }, { "name": "Notch binding", "id": "GO:0005112", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005112", "evidence": [ { "database": "UniProtKB", "id": "F1MAP4", "url": "https://www.uniprot.org/uniprotkb/F1MAP4" } ], "pmid": "" }, { "name": "complement component C1q complex binding", "id": "GO:0001849", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001849", "evidence": [ { "database": "UniProtKB", "id": "F1MAP4", "url": "https://www.uniprot.org/uniprotkb/F1MAP4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "F1MAP4-1" }, { "uniprot_canonical_ac": "M0RAI4-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "M0RAI4", "url": "https://www.uniprot.org/uniprotkb/M0RAI4" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 1115, "chemical_mass": 123871.0, "gene_names": "Ears2;Gga2;Gga2", "protein_name": "Nondiscriminating glutamyl-tRNA synthetase EARS2, mitochondrial", "disease": [ { "disease_id": "DOID:0111493", "name": "combined oxidative phosphorylation deficiency 12", "description": "A combined oxidative phosphorylation deficiency characterized by infantile onset of hypotonia and delayed psychomotor development or developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the EARS2 gene on chromosome 16p12.2.", "url": "https://disease-ontology.org/term/DOID:0111493", "evidence": [ { "id": "0111493", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111493" } ], "weight": 0.0 }, { "disease_id": 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"https://www.uniprot.org/uniprotkb/D3ZIE7" } ], "pmid": "" } ], "biological_process": [ { "name": "detection of chemical stimulus involved in sensory perception of smell", "id": "GO:0050911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050911", "evidence": [ { "database": "UniProtKB", "id": "D3ZIE7", "url": "https://www.uniprot.org/uniprotkb/D3ZIE7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D3ZIE7-1" }, { "uniprot_canonical_ac": "D3ZIJ5-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D3ZIJ5", "url": "https://www.uniprot.org/uniprotkb/D3ZIJ5" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 92, "chemical_mass": 10091.0, "gene_names": "Dpm3;Dpm3-ps1;Dpm3;LOC100910177;RGD1561807", "protein_name": "Dolichol-phosphate mannosyltransferase subunit 3", "disease": [ { "disease_id": "DOID:0050570", "name": "congenital disorder of glycosylation type I", "description": "A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins.", "url": "https://disease-ontology.org/term/DOID:0050570", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ], "weight": 0.0 }, { "disease_id": "DOID:0112376", "name": "muscular dystrophy-dystroglycanopathy type B15", "description": "A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the DPM3 gene on chromosome 1q22.", "url": "https://disease-ontology.org/term/DOID:0112376", "evidence": [ { "id": "0112376", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112376" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "dolichol-phosphate-mannose synthase complex", "id": "GO:0033185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033185", "evidence": [ { "database": "UniProtKB", "id": "D3ZIJ5", "url": "https://www.uniprot.org/uniprotkb/D3ZIJ5" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "D3ZIJ5", "url": "https://www.uniprot.org/uniprotkb/D3ZIJ5" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "D3ZIJ5", "url": "https://www.uniprot.org/uniprotkb/D3ZIJ5" } ], "pmid": "" } ], "molecular_function": [ { "name": "enzyme activator activity", "id": "GO:0008047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008047", "evidence": [ { "database": "UniProtKB", "id": "D3ZIJ5", "url": "https://www.uniprot.org/uniprotkb/D3ZIJ5" } ], "pmid": "" } ], "biological_process": [ { "name": "glycoprotein biosynthetic process", "id": "GO:0009101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009101", "evidence": [ { "database": "UniProtKB", "id": "D3ZIJ5", "url": "https://www.uniprot.org/uniprotkb/D3ZIJ5" } ], "pmid": "" }, { "name": "dolichyl monophosphate biosynthetic process", "id": "GO:0043048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043048", "evidence": [ { "database": "UniProtKB", "id": "D3ZIJ5", "url": "https://www.uniprot.org/uniprotkb/D3ZIJ5" } ], "pmid": "" }, { "name": "dolichol phosphate mannose biosynthetic process", "id": "GO:0180047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0180047", "evidence": [ { "database": "UniProtKB", "id": "D3ZIJ5", "url": "https://www.uniprot.org/uniprotkb/D3ZIJ5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D3ZIJ5-1" }, { "uniprot_canonical_ac": "D3ZIN8-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D3ZIN8", "url": "https://www.uniprot.org/uniprotkb/D3ZIN8" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 287, "chemical_mass": 31892.0, "gene_names": "Pdcd1;Pdcd1", "protein_name": "Programmed cell death protein 1", "disease": [ { "disease_id": "DOID:0061163", "name": "infantile onset multisystem autoimmune disease 4", "description": "An infantile onset multisystem autoimmune disease characterized by onset of various autoimmune diseases in early childhood that has_material_basis_in homozygous mutation in the PDCD1 gene on chromosome 2q37.", "url": "https://disease-ontology.org/term/DOID:0061163", "evidence": [ { "id": "0061163", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061163" } ], "weight": 0.0 }, { "disease_id": "DOID:0080159", "name": "Cryptococcal meningitis", "description": "A fungal meningitis that has_material_basis_in Crypococcus fungal infection.", "url": "https://disease-ontology.org/term/DOID:0080159", "evidence": [ { "id": "0080159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080159" } ], "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:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:11168", "name": "anogenital venereal wart", "description": "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts.", "url": "https://disease-ontology.org/term/DOID:11168", "evidence": [ { "id": "11168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11168" } ], "weight": 0.0 }, { "disease_id": "DOID:12549", "name": "hepatitis A", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus (Hepatovirus ahepa), which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.", "url": "https://disease-ontology.org/term/DOID:12549", "evidence": [ { "id": "12549", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12549" } ], "weight": 0.0 }, { "disease_id": "DOID: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:14115", "name": "toxic shock syndrome", "description": "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.", "url": "https://disease-ontology.org/term/DOID:14115", "evidence": [ { "id": "14115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ], "weight": 0.0 }, { "disease_id": "DOID:1883", "name": "hepatitis C", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in hepatitis C virus (Hepacivirus hominis), which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.", "url": "https://disease-ontology.org/term/DOID:1883", "evidence": [ { "id": "1883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1883" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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: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: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: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: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: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:824", "name": "periodontitis", "description": "", "url": "https://disease-ontology.org/term/DOID:824", "evidence": [ { "id": "824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:824" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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 } ], "molecular_function": [ { "name": "transmembrane signaling receptor activity", "id": "GO:0004888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004888", "evidence": [ { "database": "UniProtKB", "id": "D3ZIN8", "url": "https://www.uniprot.org/uniprotkb/D3ZIN8" } ], "pmid": "" }, { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "D3ZIN8", "url": "https://www.uniprot.org/uniprotkb/D3ZIN8" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "D3ZIN8", "url": "https://www.uniprot.org/uniprotkb/D3ZIN8" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "D3ZIN8", "url": "https://www.uniprot.org/uniprotkb/D3ZIN8" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "D3ZIN8", "url": "https://www.uniprot.org/uniprotkb/D3ZIN8" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "D3ZIN8", "url": "https://www.uniprot.org/uniprotkb/D3ZIN8" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "D3ZIN8", "url": "https://www.uniprot.org/uniprotkb/D3ZIN8" } ], "pmid": "" }, { "name": "regulation of immune response", "id": "GO:0050776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050776", "evidence": [ { "database": "UniProtKB", "id": "D3ZIN8", "url": "https://www.uniprot.org/uniprotkb/D3ZIN8" } ], "pmid": "" }, { "name": "adaptive immune response", "id": 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"https://www.uniprot.org/uniprotkb/D3ZSD7" } ], "pmid": "" }, { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "D3ZSD7", "url": "https://www.uniprot.org/uniprotkb/D3ZSD7" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "D3ZSD7", "url": "https://www.uniprot.org/uniprotkb/D3ZSD7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D3ZSD7-1" }, { "uniprot_canonical_ac": "D3ZSV6-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D3ZSV6", "url": "https://www.uniprot.org/uniprotkb/D3ZSV6" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 698, "chemical_mass": 78088.0, "gene_names": "Dhx33;Dhx33", "protein_name": "ATP-dependent RNA helicase DHX33", "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 } ], "molecular_function": [ { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "D3ZSV6", "url": "https://www.uniprot.org/uniprotkb/D3ZSV6" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "D3ZSV6", "url": "https://www.uniprot.org/uniprotkb/D3ZSV6" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "D3ZSV6", "url": "https://www.uniprot.org/uniprotkb/D3ZSV6" } ], "pmid": "" }, { "name": "double-stranded RNA binding", "id": "GO:0003725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003725", "evidence": [ { "database": "UniProtKB", "id": "D3ZSV6", "url": "https://www.uniprot.org/uniprotkb/D3ZSV6" } ], "pmid": "" }, { "name": "helicase activity", "id": "GO:0004386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004386", "evidence": [ { "database": "UniProtKB", "id": "D3ZSV6", "url": "https://www.uniprot.org/uniprotkb/D3ZSV6" } ], "pmid": "" }, { "name": "rDNA binding", "id": "GO:0000182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000182", "evidence": [ { "database": "UniProtKB", "id": "D3ZSV6", "url": "https://www.uniprot.org/uniprotkb/D3ZSV6" } ], "pmid": "" }, { "name": "ribosomal large subunit binding", "id": "GO:0043023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043023", "evidence": [ { "database": "UniProtKB", "id": "D3ZSV6", "url": "https://www.uniprot.org/uniprotkb/D3ZSV6" } ], "pmid": "" }, { "name": "RNA helicase activity", "id": "GO:0003724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003724", "evidence": [ { "database": "UniProtKB", "id": "D3ZSV6", "url": "https://www.uniprot.org/uniprotkb/D3ZSV6" } ], "pmid": "" }, { "name": "DNA-binding transcription factor binding", "id": "GO:0140297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "D3ZSV6", "url": "https://www.uniprot.org/uniprotkb/D3ZSV6" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "D3ZSV6", "url": "https://www.uniprot.org/uniprotkb/D3ZSV6" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "D3ZSV6", "url": "https://www.uniprot.org/uniprotkb/D3ZSV6" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "D3ZSV6", "url": "https://www.uniprot.org/uniprotkb/D3ZSV6" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "D3ZSV6", "url": "https://www.uniprot.org/uniprotkb/D3ZSV6" } ], "pmid": "" }, { "name": "NLRP3 inflammasome complex", "id": "GO:0072559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072559", "evidence": [ { "database": "UniProtKB", "id": "D3ZSV6", "url": "https://www.uniprot.org/uniprotkb/D3ZSV6" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "D3ZSV6", "url": "https://www.uniprot.org/uniprotkb/D3ZSV6" } ], "pmid": "" }, { "name": "translational initiation", "id": "GO:0006413", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006413", "evidence": [ { "database": "UniProtKB", "id": "D3ZSV6", "url": "https://www.uniprot.org/uniprotkb/D3ZSV6" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase I", "id": "GO:0045943", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045943", "evidence": [ { "database": "UniProtKB", "id": "D3ZSV6", "url": "https://www.uniprot.org/uniprotkb/D3ZSV6" } ], "pmid": "" }, { "name": "positive regulation of type I interferon production", "id": "GO:0032481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032481", "evidence": [ { "database": "UniProtKB", "id": "D3ZSV6", "url": "https://www.uniprot.org/uniprotkb/D3ZSV6" } ], "pmid": "" }, { "name": "positive regulation of NLRP3 inflammasome complex assembly", "id": "GO:1900227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900227", "evidence": [ { "database": "UniProtKB", "id": "D3ZSV6", "url": "https://www.uniprot.org/uniprotkb/D3ZSV6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D3ZSV6-1" }, { "uniprot_canonical_ac": "D3ZSY1-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D3ZSY1", "url": "https://www.uniprot.org/uniprotkb/D3ZSY1" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 784, "chemical_mass": 84127.0, "gene_names": "Tent4a;Papd7;Pols;Tent4a", "protein_name": "Terminal nucleotidyltransferase 4A", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "D3ZSY1", "url": "https://www.uniprot.org/uniprotkb/D3ZSY1" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "D3ZSY1", "url": "https://www.uniprot.org/uniprotkb/D3ZSY1" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "D3ZSY1", "url": "https://www.uniprot.org/uniprotkb/D3ZSY1" } ], "pmid": "" }, { "name": "TRAMP complex", "id": "GO:0031499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031499", "evidence": [ { "database": "UniProtKB", "id": "D3ZSY1", "url": "https://www.uniprot.org/uniprotkb/D3ZSY1" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "D3ZSY1", "url": "https://www.uniprot.org/uniprotkb/D3ZSY1" } ], "pmid": "" }, { "name": "poly(A) RNA polymerase activity", "id": "GO:1990817", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990817", "evidence": [ { "database": "UniProtKB", "id": "D3ZSY1", "url": "https://www.uniprot.org/uniprotkb/D3ZSY1" } ], "pmid": "" }, { "name": "guanylyltransferase activity", "id": "GO:0070568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070568", "evidence": [ { "database": "UniProtKB", "id": "D3ZSY1", "url": "https://www.uniprot.org/uniprotkb/D3ZSY1" } ], "pmid": "" } ], "biological_process": [ { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "D3ZSY1", "url": "https://www.uniprot.org/uniprotkb/D3ZSY1" } ], "pmid": "" }, { "name": "RNA 3'-end processing", "id": "GO:0031123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031123", "evidence": [ { "database": "UniProtKB", "id": "D3ZSY1", "url": "https://www.uniprot.org/uniprotkb/D3ZSY1" } ], "pmid": "" }, { "name": "positive regulation of 3'-UTR-mediated mRNA stabilization", "id": "GO:1905870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905870", "evidence": [ { "database": "UniProtKB", "id": "D3ZSY1", "url": "https://www.uniprot.org/uniprotkb/D3ZSY1" } ], "pmid": "" }, { "name": "negative regulation of nuclear-transcribed mRNA poly(A) tail shortening", "id": "GO:0060212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060212", "evidence": [ { "database": "UniProtKB", "id": "D3ZSY1", "url": "https://www.uniprot.org/uniprotkb/D3ZSY1" } ], "pmid": "" }, { "name": "polyadenylation-dependent ncRNA catabolic process", "id": "GO:0043634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043634", "evidence": [ { "database": "UniProtKB", "id": "D3ZSY1", "url": "https://www.uniprot.org/uniprotkb/D3ZSY1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "D3ZSY1-1", "start_pos": "165", "end_pos": "165", "site_lbl": "Thr165", "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": 165, "start_aa": "Thr", "end_pos": 165, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr165", "evidence": [ { "id": "GLY_001157", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001157" } ] } ] }, { "uniprot_canonical_ac": "D3ZSY1-1", "start_pos": "621", "end_pos": "621", "site_lbl": "Thr621", "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": 621, "start_aa": "Thr", "end_pos": 621, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr621", "evidence": [ { "id": "GLY_001157", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001157" } ] } ] } ], "record_id": "D3ZSY1-1" }, { "uniprot_canonical_ac": "D3ZTB4-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D3ZTB4", "url": "https://www.uniprot.org/uniprotkb/D3ZTB4" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 941, "chemical_mass": 107829.0, "gene_names": "Vps11;Vps11", "protein_name": "Vacuolar protein sorting-associated protein 11 homolog", "disease": [ { "disease_id": "DOID:0050987", "name": "hypomyelinating leukoencephalopathy", "description": "An autosomal dominant cerebellar ataxia that is characterized by nystagmus, spasticity, and a distinct pattern of MRI abnormalities.", "url": "https://disease-ontology.org/term/DOID:0050987", "evidence": [ { "id": "0050987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050987" } ], "weight": 0.0 }, { "disease_id": "DOID:0060796", "name": "hypomyelinating leukodystrophy 12", "description": "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of severely delayed or even lack of psychomotor development that becomes apparent in the first months of life, acquired microcephaly and delayed myelination that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23.", "url": "https://disease-ontology.org/term/DOID:0060796", "evidence": [ { "id": "0060796", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060796" } ], "weight": 0.0 }, { "disease_id": "DOID:0060939", "name": "dystonia 32", "description": "A dystonia characterized by onset of symptoms in adulthood, sustained or intermittent muscle contractions causing abnormal movements or posturing. The disorder is slowly progressive with eventual generalized involvement of the limbs, trunk, neck, and larynx, resulting in dysarthria and dysphagia. Brain imaging may show abnormalities in the basal ganglia that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23.", "url": "https://disease-ontology.org/term/DOID:0060939", "evidence": [ { "id": "0060939", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060939" } ], "weight": 0.0 } ], "biological_process": [ { "name": "organelle fusion", "id": "GO:0048284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048284", "evidence": [ { "database": "UniProtKB", "id": "D3ZTB4", "url": "https://www.uniprot.org/uniprotkb/D3ZTB4" } ], "pmid": "" }, { "name": "regulation of organelle assembly", "id": "GO:1902115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902115", "evidence": [ { "database": "UniProtKB", "id": "D3ZTB4", "url": "https://www.uniprot.org/uniprotkb/D3ZTB4" } ], "pmid": "" }, { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "D3ZTB4", "url": "https://www.uniprot.org/uniprotkb/D3ZTB4" } ], "pmid": "" }, { "name": "endosome organization", "id": "GO:0007032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007032", "evidence": [ { "database": "UniProtKB", "id": "D3ZTB4", "url": "https://www.uniprot.org/uniprotkb/D3ZTB4" } ], "pmid": "" }, { "name": "endosome to lysosome transport", "id": "GO:0008333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008333", "evidence": [ { "database": "UniProtKB", "id": "D3ZTB4", "url": "https://www.uniprot.org/uniprotkb/D3ZTB4" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "D3ZTB4", "url": "https://www.uniprot.org/uniprotkb/D3ZTB4" } ], "pmid": "" }, { "name": "positive regulation of protein catabolic process", "id": "GO:0045732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045732", "evidence": [ { "database": "UniProtKB", "id": "D3ZTB4", "url": "https://www.uniprot.org/uniprotkb/D3ZTB4" } ], "pmid": "" }, { "name": "endosomal vesicle fusion", "id": "GO:0034058", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034058", "evidence": [ { "database": "UniProtKB", "id": "D3ZTB4", "url": "https://www.uniprot.org/uniprotkb/D3ZTB4" } ], "pmid": "" }, { "name": "vacuole organization", "id": "GO:0007033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007033", "evidence": [ { "database": "UniProtKB", "id": "D3ZTB4", "url": "https://www.uniprot.org/uniprotkb/D3ZTB4" } ], "pmid": "" }, { "name": "negative regulation of intracellular estrogen receptor signaling pathway", "id": "GO:0033147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033147", "evidence": [ { "database": "UniProtKB", "id": "D3ZTB4", "url": "https://www.uniprot.org/uniprotkb/D3ZTB4" } ], "pmid": "" }, { "name": "positive regulation of early endosome to late endosome transport", "id": "GO:2000643", "url": 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purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection.", "url": "https://disease-ontology.org/term/DOID:11123", "evidence": [ { "id": "11123", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11123" } ], "weight": 0.0 }, { "disease_id": "DOID:11204", "name": "allergic conjunctivitis", "description": "A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant.", "url": "https://disease-ontology.org/term/DOID:11204", "evidence": [ { "id": "11204", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11204" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:12842", "name": "Guillain-Barre syndrome", "description": "An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system.", "url": "https://disease-ontology.org/term/DOID:12842", "evidence": [ { "id": "12842", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12842" } ], "weight": 0.0 }, { "disease_id": "DOID:12849", "name": "autistic disorder", "description": "An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years.", "url": "https://disease-ontology.org/term/DOID:12849", "evidence": [ { "id": "12849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12849" } ], "weight": 0.0 }, { "disease_id": "DOID: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:13141", "name": "uveitis", "description": "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.", "url": "https://disease-ontology.org/term/DOID:13141", "evidence": [ { "id": "13141", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13141" } ], "weight": 0.0 }, { "disease_id": "DOID: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:13375", "name": "temporal arteritis", "description": "A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head.", "url": "https://disease-ontology.org/term/DOID:13375", "evidence": [ { "id": "13375", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13375" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1474", "name": "aggressive periodontitis", "description": "A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium.", "url": "https://disease-ontology.org/term/DOID:1474", "evidence": [ { "id": "1474", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1474" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:1564", "name": "fungal infectious disease", "description": "A disease by infectious agent that results_in infection, has_material_basis_in Fungi, which pass the resistance barriers of the human or animal body.", "url": "https://disease-ontology.org/term/DOID:1564", "evidence": [ { "id": "1564", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1564" } ], "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:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:326", "name": "ischemia", "description": "A vascular disease that is characterized by a restriction in blood supply to tissues.", "url": "https://disease-ontology.org/term/DOID:326", "evidence": [ { "id": "326", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:326" } ], "weight": 0.0 }, { "disease_id": "DOID:3312", "name": "bipolar disorder", "description": "A mood disorder that involves alternating periods of mania and depression.", "url": "https://disease-ontology.org/term/DOID:3312", "evidence": [ { "id": "3312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3312" } ], "weight": 0.0 }, { "disease_id": "DOID: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:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "weight": 0.0 }, { "disease_id": "DOID:4449", "name": "macular retinal edema", "description": "", "url": "https://disease-ontology.org/term/DOID:4449", "evidence": [ { "id": "4449", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4449" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4617", "name": "periapical granuloma", "description": "", "url": "https://disease-ontology.org/term/DOID:4617", "evidence": [ { "id": "4617", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4617" } ], "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: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: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:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:631", "name": "fibromyalgia", "description": "A syndrome that is is characterized by chronic widespread musculoskeletal pain, fatigue, sleep disturbances, cognitive dysfunction and depression.", "url": "https://disease-ontology.org/term/DOID:631", "evidence": [ { "id": "631", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:631" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:811", "name": "lipodystrophy", "description": "A connective tissue disease that is characterized by marked reduction, absence, and/or the redistribution of adipose tissue.", "url": "https://disease-ontology.org/term/DOID:811", "evidence": [ { "id": "811", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:811" } ], "weight": 0.0 }, { "disease_id": "DOID:820", "name": "myocarditis", "description": "An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:820", "evidence": [ { "id": "820", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:820" } ], "weight": 0.0 }, { "disease_id": "DOID:823", "name": "periapical periodontitis", "description": "", "url": "https://disease-ontology.org/term/DOID:823", "evidence": [ { "id": "823", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:823" } ], "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: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:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:934", "name": "viral infectious disease", "description": "A disease by infectious agent that results in infection, has_material_basis_in Viruses.", "url": "https://disease-ontology.org/term/DOID:934", "evidence": [ { "id": "934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:934" } ], "weight": 0.0 }, { "disease_id": "DOID:9507", "name": "ethmoid sinusitis", "description": "A sinusitis which involves infection of ethmoid sinuses that causes pain or pressure behind and between the eyes, tearing, and headache over the forehead.", "url": "https://disease-ontology.org/term/DOID:9507", "evidence": [ { "id": "9507", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9507" } ], "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": 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"https://www.uniprot.org/uniprotkb/E9PU37" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 622, "chemical_mass": 70774.0, "gene_names": "Zdhhc13;Zdhhc13", "protein_name": "Palmitoyltransferase", "disease": [ { "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 } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "E9PU37", "url": "https://www.uniprot.org/uniprotkb/E9PU37" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "E9PU37", "url": "https://www.uniprot.org/uniprotkb/E9PU37" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "E9PU37", "url": "https://www.uniprot.org/uniprotkb/E9PU37" } ], "pmid": "" }, { "name": "Golgi-associated vesicle membrane", "id": "GO:0030660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030660", "evidence": [ { "database": "UniProtKB", "id": "E9PU37", "url": "https://www.uniprot.org/uniprotkb/E9PU37" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein-cysteine S-palmitoyltransferase activity", "id": "GO:0019706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019706", "evidence": [ { "database": "UniProtKB", "id": "E9PU37", "url": "https://www.uniprot.org/uniprotkb/E9PU37" } ], "pmid": "" }, { "name": "magnesium ion transmembrane transporter activity", "id": "GO:0015095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015095", "evidence": [ { "database": "UniProtKB", "id": "E9PU37", "url": "https://www.uniprot.org/uniprotkb/E9PU37" } ], "pmid": "" }, { "name": "palmitoyltransferase activity", "id": "GO:0016409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016409", "evidence": [ { "database": "UniProtKB", "id": "E9PU37", "url": "https://www.uniprot.org/uniprotkb/E9PU37" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E9PU37-1" }, { "uniprot_canonical_ac": "E9PU71-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "E9PU71", "url": "https://www.uniprot.org/uniprotkb/E9PU71" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 419, "chemical_mass": 48484.0, "gene_names": "Il12b;IL12B", "protein_name": "Interleukin-12 subunit beta", "disease": [ { "disease_id": "DOID:0060859", "name": "salmonellosis", "description": "A primary bacterial infectious disease caused by the bacteria of the genus Salmonella. It has symptoms diarrhea, fever, vomiting, and abdominal cramps 12 to 72 hours after infection. 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The infection has_symptom anogenital warts.", "url": "https://disease-ontology.org/term/DOID:11168", "evidence": [ { "id": "11168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11168" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "biological_process": [ { "name": "positive regulation of mononuclear cell proliferation", "id": "GO:0032946", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032946", "evidence": [ { "database": "UniProtKB", "id": "E9PU71", "url": "https://www.uniprot.org/uniprotkb/E9PU71" } ], "pmid": "" }, { "name": "positive regulation of NK T cell proliferation", "id": "GO:0051142", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051142", "evidence": [ { "database": "UniProtKB", "id": "E9PU71", "url": "https://www.uniprot.org/uniprotkb/E9PU71" } ], "pmid": "" }, { "name": "negative regulation of protein secretion", "id": "GO:0050709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050709", "evidence": [ { "database": "UniProtKB", "id": "E9PU71", "url": "https://www.uniprot.org/uniprotkb/E9PU71" } ], "pmid": "" }, { "name": "negative regulation of interleukin-10 production", "id": "GO:0032693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032693", "evidence": [ { "database": "UniProtKB", "id": "E9PU71", "url": "https://www.uniprot.org/uniprotkb/E9PU71" } ], "pmid": "" }, { "name": "negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis", "id": "GO:1903588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903588", "evidence": [ { "database": "UniProtKB", "id": "E9PU71", "url": "https://www.uniprot.org/uniprotkb/E9PU71" } ], "pmid": "" }, { "name": "negative regulation of interleukin-17 production", "id": "GO:0032700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032700", "evidence": [ { "database": "UniProtKB", "id": "E9PU71", "url": "https://www.uniprot.org/uniprotkb/E9PU71" } ], "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": "E9PU71", "url": "https://www.uniprot.org/uniprotkb/E9PU71" } ], "pmid": "" }, { "name": "positive regulation of NK T cell activation", "id": "GO:0051135", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051135", "evidence": [ { "database": "UniProtKB", "id": "E9PU71", "url": "https://www.uniprot.org/uniprotkb/E9PU71" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "E9PU71", "url": "https://www.uniprot.org/uniprotkb/E9PU71" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "E9PU71", "url": "https://www.uniprot.org/uniprotkb/E9PU71" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "E9PU71", "url": "https://www.uniprot.org/uniprotkb/E9PU71" } ], "pmid": "" }, { "name": "positive regulation of cell adhesion", "id": "GO:0045785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045785", "evidence": [ { "database": "UniProtKB", "id": "E9PU71", "url": "https://www.uniprot.org/uniprotkb/E9PU71" } ], "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": "E9PU71", "url": "https://www.uniprot.org/uniprotkb/E9PU71" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "E9PU71", "url": "https://www.uniprot.org/uniprotkb/E9PU71" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "E9PU71", "url": "https://www.uniprot.org/uniprotkb/E9PU71" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response to antigenic stimulus", "id": "GO:0002862", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002862", "evidence": [ { "database": "UniProtKB", "id": "E9PU71", "url": "https://www.uniprot.org/uniprotkb/E9PU71" } ], "pmid": "" }, { "name": "interleukin-12-mediated signaling pathway", "id": "GO:0035722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035722", "evidence": [ { "database": "UniProtKB", "id": "E9PU71", "url": "https://www.uniprot.org/uniprotkb/E9PU71" } ], "pmid": "" }, { "name": "positive regulation of T cell mediated cytotoxicity", "id": "GO:0001916", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001916", "evidence": [ { "database": "UniProtKB", "id": "E9PU71", "url": "https://www.uniprot.org/uniprotkb/E9PU71" } ], "pmid": "" }, { "name": "positive regulation of defense response to virus by host", "id": "GO:0002230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002230", "evidence": [ { "database": "UniProtKB", "id": "E9PU71", "url": "https://www.uniprot.org/uniprotkb/E9PU71" } ], "pmid": "" }, { "name": "positive regulation of tumor necrosis factor production", "id": "GO:0032760", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032760", "evidence": [ { "database": "UniProtKB", "id": "E9PU71", "url": "https://www.uniprot.org/uniprotkb/E9PU71" } ], "pmid": "" }, { "name": "positive regulation of type II interferon production", "id": "GO:0032729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032729", "evidence": [ { "database": "UniProtKB", "id": "E9PU71", "url": "https://www.uniprot.org/uniprotkb/E9PU71" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle cell proliferation", "id": "GO:0048662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048662", "evidence": [ { "database": "UniProtKB", "id": "E9PU71", "url": "https://www.uniprot.org/uniprotkb/E9PU71" } ], "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": "E9PU71", "url": "https://www.uniprot.org/uniprotkb/E9PU71" } ], "pmid": "" }, { "name": "negative regulation of vascular endothelial growth factor signaling pathway", "id": "GO:1900747", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900747", "evidence": [ { "database": "UniProtKB", "id": "E9PU71", "url": "https://www.uniprot.org/uniprotkb/E9PU71" } ], "pmid": "" }, { "name": "positive regulation of T cell proliferation", "id": "GO:0042102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042102", "evidence": [ { "database": "UniProtKB", "id": "E9PU71", "url": "https://www.uniprot.org/uniprotkb/E9PU71" } ], "pmid": "" }, { "name": "cellular response to type II interferon", "id": "GO:0071346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071346", "evidence": [ { "database": "UniProtKB", "id": "E9PU71", "url": "https://www.uniprot.org/uniprotkb/E9PU71" } ], "pmid": "" }, { "name": "T-helper cell differentiation", "id": "GO:0042093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042093", "evidence": [ { "database": "UniProtKB", "id": "E9PU71", "url": "https://www.uniprot.org/uniprotkb/E9PU71" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell apoptotic process", "id": "GO:0034393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034393", "evidence": [ { "database": "UniProtKB", "id": "E9PU71", "url": "https://www.uniprot.org/uniprotkb/E9PU71" } ], "pmid": "" }, { "name": "positive regulation of activated T cell proliferation", "id": "GO:0042104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042104", "evidence": [ { "database": "UniProtKB", "id": "E9PU71", "url": "https://www.uniprot.org/uniprotkb/E9PU71" } ], "pmid": "" }, { "name": "natural killer cell activation", "id": "GO:0030101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030101", "evidence": [ { "database": "UniProtKB", "id": "E9PU71", "url": "https://www.uniprot.org/uniprotkb/E9PU71" } ], "pmid": "" }, { "name": "defense response to protozoan", "id": "GO:0042832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042832", "evidence": [ { "database": "UniProtKB", "id": "E9PU71", "url": "https://www.uniprot.org/uniprotkb/E9PU71" } ], "pmid": "" }, { "name": "positive regulation of interleukin-10 production", "id": "GO:0032733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032733", "evidence": [ { "database": "UniProtKB", "id": "E9PU71", "url": "https://www.uniprot.org/uniprotkb/E9PU71" } ], "pmid": "" }, { "name": "positive regulation of granulocyte macrophage colony-stimulating factor production", "id": "GO:0032725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032725", "evidence": [ { "database": "UniProtKB", "id": "E9PU71", "url": "https://www.uniprot.org/uniprotkb/E9PU71" } ], "pmid": "" }, { "name": "response to UV-B", "id": "GO:0010224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010224", "evidence": [ { "database": "UniProtKB", "id": "E9PU71", "url": "https://www.uniprot.org/uniprotkb/E9PU71" } ], "pmid": "" }, { "name": "positive regulation of osteoclast differentiation", "id": "GO:0045672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045672", "evidence": [ { "database": "UniProtKB", "id": "E9PU71", "url": "https://www.uniprot.org/uniprotkb/E9PU71" } ], "pmid": "" }, { "name": "positive regulation of interleukin-12 production", "id": "GO:0032735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032735", "evidence": [ { "database": "UniProtKB", "id": "E9PU71", "url": "https://www.uniprot.org/uniprotkb/E9PU71" } ], "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": 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"start_aa": "Asn", "end_pos": 3209, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3209", "evidence": [ { "id": "24090084", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24090084" }, { "id": "GLY_000221", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000221" } ] }, { "glytoucan_ac": "G49018RC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3209, "start_aa": "Asn", "end_pos": 3209, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3209", "evidence": [ { "id": "24090084", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24090084" }, { "id": "GLY_000221", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000221" } ] } ] }, { "uniprot_canonical_ac": "F1MAN8-1", "start_pos": "3257", "end_pos": "3257", "site_lbl": "Asn3257", 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"comment": "", "icn3d_view": {}, "start_pos": 3287, "start_aa": "Asn", "end_pos": 3287, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3287", "evidence": [ { "id": "24090084", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24090084" }, { "id": "GLY_000221", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000221" } ] }, { "glytoucan_ac": "G31852PQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3287, "start_aa": "Asn", "end_pos": 3287, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3287", "evidence": [ { "id": "24090084", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24090084" }, { "id": "GLY_000221", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000221" } ] }, { "glytoucan_ac": "G41247ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3287, "start_aa": "Asn", "end_pos": 3287, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3287", "evidence": [ { "id": "24090084", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24090084" }, { "id": "GLY_000221", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000221" } ] } ] }, { "uniprot_canonical_ac": "F1MAN8-1", "start_pos": "3293", "end_pos": "3293", "site_lbl": "Thr3293", "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": 3293, "start_aa": "Thr", "end_pos": 3293, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr3293", "evidence": [ { "id": "GLY_001157", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001157" } ] } ] } ], "record_id": "F1MAN8-1" }, { "uniprot_canonical_ac": "F7EMB9-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "F7EMB9", "url": "https://www.uniprot.org/uniprotkb/F7EMB9" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 932, "chemical_mass": 106384.0, "gene_names": "Tlr11;RGD1564460;Tlr11", "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": "F7EMB9", "url": "https://www.uniprot.org/uniprotkb/F7EMB9" } ], "pmid": "" } ], "biological_process": [ { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "F7EMB9", "url": "https://www.uniprot.org/uniprotkb/F7EMB9" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "F7EMB9", "url": "https://www.uniprot.org/uniprotkb/F7EMB9" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "F7EMB9", "url": "https://www.uniprot.org/uniprotkb/F7EMB9" } ], "pmid": "" }, { "name": "toll-like receptor signaling pathway", "id": "GO:0002224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002224", "evidence": [ { "database": "UniProtKB", "id": "F7EMB9", "url": "https://www.uniprot.org/uniprotkb/F7EMB9" } ], "pmid": "" } ], "molecular_function": [ { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "F7EMB9", "url": "https://www.uniprot.org/uniprotkb/F7EMB9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "F7EMB9-1" }, { "uniprot_canonical_ac": "F7F172-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "F7F172", "url": "https://www.uniprot.org/uniprotkb/F7F172" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 406, "chemical_mass": 45573.0, "gene_names": "Mettl15;Mettl15;RGD1304978", "protein_name": "12S rRNA N(4)-cytidine methyltransferase METTL15", "disease": [], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "F7F172", "url": "https://www.uniprot.org/uniprotkb/F7F172" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "F7F172", "url": "https://www.uniprot.org/uniprotkb/F7F172" } ], "pmid": "" } ], "biological_process": [ { "name": "rRNA base methylation", "id": "GO:0070475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070475", "evidence": [ { "database": "UniProtKB", "id": "F7F172", "url": "https://www.uniprot.org/uniprotkb/F7F172" } ], "pmid": "" }, { "name": "mitochondrial small ribosomal subunit assembly", "id": "GO:0180026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0180026", "evidence": [ { "database": "UniProtKB", "id": "F7F172", "url": "https://www.uniprot.org/uniprotkb/F7F172" } ], "pmid": "" } ], "molecular_function": [ { "name": "rRNA (cytosine-N4-)-methyltransferase activity", "id": "GO:0071424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071424", "evidence": [ { "database": "UniProtKB", "id": "F7F172", "url": "https://www.uniprot.org/uniprotkb/F7F172" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "F7F172-1" }, { "uniprot_canonical_ac": "F7FAP6-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "F7FAP6", "url": "https://www.uniprot.org/uniprotkb/F7FAP6" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 80, "chemical_mass": 9192.0, "gene_names": "Wfdc15b;Pi3;Serpina1c;Skalp;Wfdc14;Wfdc15b", "protein_name": "", "disease": [], "molecular_function": [ { "name": "serine-type endopeptidase inhibitor activity", "id": "GO:0004867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004867", "evidence": [ { "database": "UniProtKB", "id": "F7FAP6", "url": "https://www.uniprot.org/uniprotkb/F7FAP6" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070327", "evidence": [ { "database": "UniProtKB", "id": "G3V7R7", "url": "https://www.uniprot.org/uniprotkb/G3V7R7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "G3V7R7-1" }, { "uniprot_canonical_ac": "D3ZP12-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D3ZP12", "url": "https://www.uniprot.org/uniprotkb/D3ZP12" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 971, "chemical_mass": 110329.0, "gene_names": "Zc3h7a;Zc3h7a;Zc3hdc7", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "D3ZP12", "url": "https://www.uniprot.org/uniprotkb/D3ZP12" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": 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"A0A096MKB0", "url": "https://www.uniprot.org/uniprotkb/A0A096MKB0" } ], "pmid": "" }, { "name": "meiotic nuclear division", "id": "GO:0140013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140013", "evidence": [ { "database": "UniProtKB", "id": "A0A096MKB0", "url": "https://www.uniprot.org/uniprotkb/A0A096MKB0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A096MKB0-1" }, { "uniprot_canonical_ac": "D4A6K5-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D4A6K5", "url": "https://www.uniprot.org/uniprotkb/D4A6K5" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 630, "chemical_mass": 70099.0, "gene_names": "Il27ra", "protein_name": "Interleukin-27 receptor subunit alpha", "disease": [ { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or 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"database": "UniProtKB", "id": "D4A6K5", "url": "https://www.uniprot.org/uniprotkb/D4A6K5" } ], "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": "D4A6K5", "url": "https://www.uniprot.org/uniprotkb/D4A6K5" } ], "pmid": "" }, { "name": "negative regulation of interleukin-6 production", "id": "GO:0032715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032715", "evidence": [ { "database": "UniProtKB", "id": "D4A6K5", "url": "https://www.uniprot.org/uniprotkb/D4A6K5" } ], "pmid": "" }, { "name": "negative regulation of tumor necrosis factor production", "id": "GO:0032720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032720", "evidence": [ { "database": "UniProtKB", "id": "D4A6K5", "url": "https://www.uniprot.org/uniprotkb/D4A6K5" } ], "pmid": "" }, { "name": "negative regulation of neuron apoptotic process", "id": "GO:0043524", "url": 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"molecular_function": [ { "name": "interleukin-27 receptor activity", "id": "GO:0045509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045509", "evidence": [ { "database": "UniProtKB", "id": "D4A6K5", "url": "https://www.uniprot.org/uniprotkb/D4A6K5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D4A6K5-1" }, { "uniprot_canonical_ac": "M0R713-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "M0R713", "url": "https://www.uniprot.org/uniprotkb/M0R713" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 625, "chemical_mass": 73777.0, "gene_names": "Zfp955a", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "M0R713", "url": "https://www.uniprot.org/uniprotkb/M0R713" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "M0R713", "url": "https://www.uniprot.org/uniprotkb/M0R713" } ], "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": "M0R713", "url": "https://www.uniprot.org/uniprotkb/M0R713" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "M0R713", "url": "https://www.uniprot.org/uniprotkb/M0R713" } ], "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": "M0R713", "url": "https://www.uniprot.org/uniprotkb/M0R713" } ], "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": "M0R713", "url": "https://www.uniprot.org/uniprotkb/M0R713" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "M0R713-1" }, { "uniprot_canonical_ac": "F1M9D6-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "F1M9D6", "url": "https://www.uniprot.org/uniprotkb/F1M9D6" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 755, "chemical_mass": 88008.0, "gene_names": "Stat1;Stat4", "protein_name": "Signal transducer and activator of transcription", "disease": [ { "disease_id": "DOID:0060411", "name": "chromosome 1q21.1 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This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:0080361", "name": "trimethylaminuria", "description": "An inherited metabolic disorder characterized by the inability to break down trimethylamine and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding flavin-containing monooxygenase-3 on chromosome 1q24.", "url": "https://disease-ontology.org/term/DOID:0080361", "evidence": [ { "id": "0080361", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080361" } ], "weight": 0.0 }, { "disease_id": "DOID:0080745", "name": "polymyositis", "description": "A myositis that is characterized by muscle weakness affecting both sides of your body.", "url": "https://disease-ontology.org/term/DOID:0080745", "evidence": [ { "id": "0080745", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080745" } ], "weight": 0.0 }, { "disease_id": "DOID:0081373", "name": "disabling pansclerotic morphea", "description": "A localized scleroderma that is characterized by the rapid progression of deep cutaneous fibrosis or pansclerosis that involves the subcutaneous adipose tissue and, occasionally, the fascia, muscles, and bone.", "url": "https://disease-ontology.org/term/DOID:0081373", "evidence": [ { "id": "0081373", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081373" } ], "weight": 0.0 }, { "disease_id": "DOID:0111944", "name": "immunodeficiency 31B", "description": "A primary immunodeficiency disease characterized by impaired cellular responses to interferons A, B, and G resulting increased susceptibility to mycobacteria, Salmonella, and viruses that has_material_basis_in homozygous or compound heterozygous mutation in the STAT1 gene on chromosome 2q32.2.", "url": "https://disease-ontology.org/term/DOID:0111944", "evidence": [ { "id": "0111944", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111944" } ], "weight": 0.0 }, { "disease_id": "DOID:0111945", "name": "immunodeficiency 31A", "description": "A primary immunodeficiency disease characterized by impaired response to IFNG but not to INFA or IFNB resulting in increased susceptibility to mycobacterial infection that has_material_basis_in heterozygous mutation in the STAT1 gene on chromosome 2q32.2.", "url": "https://disease-ontology.org/term/DOID:0111945", "evidence": [ { "id": "0111945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111945" } ], "weight": 0.0 }, { "disease_id": "DOID:0111946", "name": "immunodeficiency 31C", "description": "A primary immunodeficiency disease characterized by onset in infancy or childhood of chronic mucocutaneous candidiasis and increased IFNG activation that has_material_basis_in heterozygous gain of function mutation in the STAT1 gene on chromosome 2q32.2.", "url": "https://disease-ontology.org/term/DOID:0111946", "evidence": [ { "id": "0111946", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111946" } ], "weight": 0.0 }, { "disease_id": "DOID:10223", "name": "dermatomyositis", "description": "A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction.", "url": "https://disease-ontology.org/term/DOID:10223", "evidence": [ { "id": "10223", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10223" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:12297", "name": "Vogt-Koyanagi-Harada disease", "description": "An autoimmune disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis.", "url": "https://disease-ontology.org/term/DOID:12297", "evidence": [ { "id": "12297", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12297" } ], "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: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:1577", "name": "limited scleroderma", "description": "", "url": "https://disease-ontology.org/term/DOID:1577", "evidence": [ { "id": "1577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1577" } ], "weight": 0.0 }, { "disease_id": "DOID:1580", "name": "diffuse scleroderma", "description": "", "url": "https://disease-ontology.org/term/DOID:1580", "evidence": [ { "id": "1580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1580" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1884", "name": "viral hepatitis", "description": "A hepatitis that involves viral infection causing inflammation of the liver.", "url": "https://disease-ontology.org/term/DOID:1884", "evidence": [ { "id": "1884", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1884" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2945", "name": "severe acute respiratory syndrome", "description": "A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Severe acute respiratory syndrome coronavirus (SARS-CoV or SARS-CoV-1), a subtype of Betacoronavirus pandemicum, which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:3717", "name": "gastric adenocarcinoma", "description": "A stomach carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3717", "evidence": [ { "id": "3717", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3717" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:399", "name": "tuberculosis", "description": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.", "url": "https://disease-ontology.org/term/DOID:399", "evidence": [ { "id": "399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:399" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID: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 }, { "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:8541", "name": "Sezary's disease", "description": "", "url": "https://disease-ontology.org/term/DOID:8541", "evidence": [ { "id": "8541", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8541" } ], "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:8704", "name": "genital herpes", "description": "A herpes simplex that results_in infection located_in genital system, or located_in rectum, has_material_basis_in Human herpesvirus 1 (Simplexvirus humanalpha1) or 2 (Simplexvirus humanalpha2), which is transmitted_by sexual contact. The infection has_symptom sores, has_symptom fever, and has_symptom swollen glands.", "url": "https://disease-ontology.org/term/DOID:8704", "evidence": [ { "id": "8704", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8704" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:9008", "name": "psoriatic arthritis", "description": "An arthritis that is characterized by joint inflammation that usually occurs in combination with psoriasis.", "url": "https://disease-ontology.org/term/DOID:9008", "evidence": [ { "id": "9008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9008" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 }, { "disease_id": "DOID: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": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "F1M9D6", "url": "https://www.uniprot.org/uniprotkb/F1M9D6" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "F1M9D6", "url": "https://www.uniprot.org/uniprotkb/F1M9D6" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "F1M9D6", "url": "https://www.uniprot.org/uniprotkb/F1M9D6" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "F1M9D6", "url": "https://www.uniprot.org/uniprotkb/F1M9D6" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "F1M9D6", "url": "https://www.uniprot.org/uniprotkb/F1M9D6" } ], "pmid": "" }, { "name": "double-stranded DNA binding", "id": "GO:0003690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003690", "evidence": [ { "database": "UniProtKB", "id": "F1M9D6", "url": "https://www.uniprot.org/uniprotkb/F1M9D6" } ], "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": "F1M9D6", "url": "https://www.uniprot.org/uniprotkb/F1M9D6" } ], "pmid": "" }, { "name": "protein phosphatase 2A binding", "id": "GO:0051721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051721", "evidence": [ { "database": "UniProtKB", "id": "F1M9D6", "url": "https://www.uniprot.org/uniprotkb/F1M9D6" } ], "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": "F1M9D6", "url": "https://www.uniprot.org/uniprotkb/F1M9D6" } ], "pmid": "" }, { "name": "RNA polymerase II core promoter sequence-specific DNA binding", "id": "GO:0000979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000979", "evidence": [ { "database": "UniProtKB", "id": "F1M9D6", "url": "https://www.uniprot.org/uniprotkb/F1M9D6" } ], "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": "F1M9D6", "url": "https://www.uniprot.org/uniprotkb/F1M9D6" } ], "pmid": "" }, { "name": "histone binding", "id": "GO:0042393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042393", "evidence": [ { "database": "UniProtKB", "id": "F1M9D6", "url": "https://www.uniprot.org/uniprotkb/F1M9D6" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "F1M9D6", "url": "https://www.uniprot.org/uniprotkb/F1M9D6" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "F1M9D6", "url": "https://www.uniprot.org/uniprotkb/F1M9D6" } ], "pmid": "" }, { "name": "transcription coactivator binding", "id": "GO:0001223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001223", "evidence": [ { "database": "UniProtKB", "id": "F1M9D6", "url": "https://www.uniprot.org/uniprotkb/F1M9D6" } ], "pmid": "" }, { "name": "ubiquitin-like protein ligase binding", "id": "GO:0044389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044389", "evidence": [ { "database": "UniProtKB", "id": "F1M9D6", "url": "https://www.uniprot.org/uniprotkb/F1M9D6" } ], "pmid": "" }, { "name": "CCR5 chemokine receptor binding", "id": "GO:0031730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031730", "evidence": [ { "database": "UniProtKB", "id": "F1M9D6", "url": "https://www.uniprot.org/uniprotkb/F1M9D6" } ], "pmid": "" }, { "name": "tumor necrosis factor receptor binding", "id": "GO:0005164", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005164", "evidence": [ { "database": "UniProtKB", "id": "F1M9D6", "url": "https://www.uniprot.org/uniprotkb/F1M9D6" } ], "pmid": "" }, { "name": "promoter-specific chromatin binding", "id": "GO:1990841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990841", "evidence": [ { "database": "UniProtKB", 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"https://www.uniprot.org/uniprotkb/F1M9D6" } ], "pmid": "" }, { "name": "blood circulation", "id": "GO:0008015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008015", "evidence": [ { "database": "UniProtKB", "id": "F1M9D6", "url": "https://www.uniprot.org/uniprotkb/F1M9D6" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "F1M9D6", "url": "https://www.uniprot.org/uniprotkb/F1M9D6" } ], "pmid": "" }, { "name": "response to hydrogen peroxide", "id": "GO:0042542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042542", "evidence": [ { "database": "UniProtKB", "id": "F1M9D6", "url": "https://www.uniprot.org/uniprotkb/F1M9D6" } ], "pmid": "" }, { "name": "type II interferon-mediated signaling pathway", "id": "GO:0060333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060333", "evidence": [ { "database": "UniProtKB", "id": "F1M9D6", "url": 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peptide hormone", "id": "GO:0043434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043434", "evidence": [ { "database": "UniProtKB", "id": "F1M9D6", "url": "https://www.uniprot.org/uniprotkb/F1M9D6" } ], "pmid": "" }, { "name": "cellular response to type II interferon", "id": "GO:0071346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071346", "evidence": [ { "database": "UniProtKB", "id": "F1M9D6", "url": "https://www.uniprot.org/uniprotkb/F1M9D6" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "F1M9D6", "url": "https://www.uniprot.org/uniprotkb/F1M9D6" } ], "pmid": "" }, { "name": "lipopolysaccharide-mediated signaling pathway", "id": "GO:0031663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031663", "evidence": [ { "database": "UniProtKB", "id": "F1M9D6", "url": "https://www.uniprot.org/uniprotkb/F1M9D6" } ], "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": "F1M9D6", "url": "https://www.uniprot.org/uniprotkb/F1M9D6" } ], "pmid": "" }, { "name": "cellular response to interferon-beta", "id": "GO:0035458", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035458", "evidence": [ { "database": "UniProtKB", "id": "F1M9D6", "url": "https://www.uniprot.org/uniprotkb/F1M9D6" } ], "pmid": "" }, { "name": "response to interleukin-6", "id": "GO:0070741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070741", "evidence": [ { "database": "UniProtKB", "id": "F1M9D6", "url": "https://www.uniprot.org/uniprotkb/F1M9D6" } ], "pmid": "" }, { "name": "response to type II interferon", "id": "GO:0034341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034341", "evidence": [ { "database": "UniProtKB", "id": "F1M9D6", "url": "https://www.uniprot.org/uniprotkb/F1M9D6" } ], "pmid": "" }, { "name": 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This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac.", "url": "https://disease-ontology.org/term/DOID:106", "evidence": [ { "id": "106", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:106" } ], "weight": 0.0 }, { "disease_id": "DOID:11204", "name": "allergic conjunctivitis", "description": "A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant.", "url": "https://disease-ontology.org/term/DOID:11204", "evidence": [ { "id": "11204", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11204" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. 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The symptoms include cough, fever, chest pain, sweating and shortness of breath.", "url": "https://disease-ontology.org/term/DOID:3798", "evidence": [ { "id": "3798", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3798" } ], "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:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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 } ], "biological_process": [ { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K1L0", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K1L0" } ], "pmid": "" }, { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K1L0", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K1L0" } ], "pmid": "" }, { "name": "regulation of cell adhesion", "id": "GO:0030155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030155", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K1L0", "url": 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"id": "A0A0G2K1L0", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K1L0" } ], "pmid": "" }, { "name": "negative regulation of cell adhesion", "id": "GO:0007162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007162", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K1L0", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K1L0" } ], "pmid": "" }, { "name": "neuromuscular junction development", "id": "GO:0007528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007528", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K1L0", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K1L0" } ], "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": "A0A0G2K1L0", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K1L0" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K1L0", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K1L0" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K1L0", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K1L0" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K1L0", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K1L0" } ], "pmid": "" }, { "name": "cellular response to retinoic acid", "id": "GO:0071300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071300", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K1L0", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K1L0" } ], "pmid": "" }, { "name": "response to mechanical stimulus", "id": "GO:0009612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009612", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K1L0", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K1L0" } ], "pmid": "" }, { "name": "peripheral nervous system axon regeneration", "id": "GO:0014012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014012", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K1L0", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K1L0" } ], "pmid": "" }, { "name": "odontogenesis of dentin-containing tooth", "id": "GO:0042475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042475", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K1L0", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K1L0" } ], "pmid": "" }, { "name": "prostate gland epithelium morphogenesis", "id": "GO:0060740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060740", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K1L0", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K1L0" } ], "pmid": "" }, { "name": "cellular response to prostaglandin D stimulus", "id": "GO:0071799", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071799", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K1L0", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K1L0" } ], "pmid": "" }, { "name": "response to fibroblast growth factor", "id": "GO:0071774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071774", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K1L0", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K1L0" } ], "pmid": "" }, { "name": "cellular response to vitamin D", "id": "GO:0071305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071305", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K1L0", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K1L0" } ], "pmid": "" }, { "name": "bud outgrowth involved in lung branching", "id": "GO:0060447", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060447", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K1L0", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K1L0" } ], "pmid": "" } ], "cellular_component": [ { "name": "perisynaptic extracellular matrix", "id": "GO:0098966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098966", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K1L0", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K1L0" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K1L0", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K1L0" } ], "pmid": "" }, { "name": "basement membrane", "id": "GO:0005604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005604", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K1L0", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K1L0" } ], "pmid": "" }, { "name": "interstitial matrix", "id": "GO:0005614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005614", "evidence": [ { "database": "UniProtKB", "id": 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"GO:0005198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005198", "evidence": [ { "database": "UniProtKB", "id": "G3V6T1", "url": "https://www.uniprot.org/uniprotkb/G3V6T1" } ], "pmid": "" }, { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "G3V6T1", "url": "https://www.uniprot.org/uniprotkb/G3V6T1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "G3V6T1-1" }, { "uniprot_canonical_ac": "A0A0G2JUH4-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JUH4", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JUH4" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 525, "chemical_mass": 57448.0, "gene_names": "Pnkp", "protein_name": "Bifunctional polynucleotide phosphatase/kinase", "disease": [ { "disease_id": "DOID:0080457", 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"name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JUH4", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JUH4" } ], "pmid": "" }, { "name": "SCF ubiquitin ligase complex", "id": "GO:0019005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019005", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JUH4", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JUH4" } ], "pmid": "" }, { "name": "site of double-strand break", "id": "GO:0035861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035861", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JUH4", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JUH4" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JUH4", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JUH4" } ], "pmid": "" }, { 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"A0A0G2JUH4", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JUH4" } ], "pmid": "" }, { "name": "protein K63-linked ubiquitination", "id": "GO:0070534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070534", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JUH4", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JUH4" } ], "pmid": "" }, { "name": "positive regulation of telomere maintenance", "id": "GO:0032206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032206", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JUH4", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JUH4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0G2JUH4-1" }, { "uniprot_canonical_ac": "Q66HB1-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q66HB1", "url": "https://www.uniprot.org/uniprotkb/Q66HB1" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" 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"https://www.ebi.ac.uk/QuickGO/term/GO:0001046", "evidence": [ { "database": "UniProtKB", "id": "Q66HB1", "url": "https://www.uniprot.org/uniprotkb/Q66HB1" } ], "pmid": "" }, { "name": "RNA polymerase II-specific DNA-binding transcription factor binding", "id": "GO:0061629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061629", "evidence": [ { "database": "UniProtKB", "id": "Q66HB1", "url": "https://www.uniprot.org/uniprotkb/Q66HB1" } ], "pmid": "" }, { "name": "RNA polymerase II general transcription initiation factor binding", "id": "GO:0001091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001091", "evidence": [ { "database": "UniProtKB", "id": "Q66HB1", "url": "https://www.uniprot.org/uniprotkb/Q66HB1" } ], "pmid": "" }, { "name": "DNA-binding transcription factor binding", "id": "GO:0140297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "Q66HB1", "url": "https://www.uniprot.org/uniprotkb/Q66HB1" } ], "pmid": "" } ], 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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:0060295", "name": "complement component 2 deficiency", "description": "A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in autosomal recessive inheritance of mutation in the C2 gene.", "url": "https://disease-ontology.org/term/DOID:0060295", "evidence": [ { "id": "0060295", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060295" } ], "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:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure.", "url": "https://disease-ontology.org/term/DOID:0080322", "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ], "weight": 0.0 }, { "disease_id": "DOID: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:0110026", "name": "age related macular degeneration 14", "description": "An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21.", "url": "https://disease-ontology.org/term/DOID:0110026", "evidence": [ { "id": "0110026", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110026" } ], "weight": 0.0 }, { "disease_id": "DOID:0110032", "name": "Alport syndrome 3A", "description": "An Alport syndrome that has_material_basis_in heterozygous mutation in the COL4A3 gene.", "url": "https://disease-ontology.org/term/DOID:0110032", "evidence": [ { "id": "0110032", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110032" } ], "weight": 0.0 }, { "disease_id": "DOID:0110033", "name": "Alport syndrome 2", "description": "An Alport syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the COL4A3 or the COL4A4 gene, both of which map to chromosome 2q.", "url": "https://disease-ontology.org/term/DOID:0110033", "evidence": [ { "id": "0110033", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110033" } ], "weight": 0.0 }, { "disease_id": "DOID:0111365", "name": "benign familial hematuria", "description": "A urinary system disease characterized by the presence of blood in the urine, thinning of the glomerular basement membrane and normal renal function that has_material_basis_in heterozygous mutation in the COL4A3 gene or the COL4A4 gene on chromosome 2q36.3.", "url": "https://disease-ontology.org/term/DOID:0111365", "evidence": [ { "id": "0111365", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111365" } ], "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: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: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:10983", "name": "Alport syndrome", "description": "A syndrome disease that is characterized by glomerulonephritis, end-stage kidney disease, and hearing loss.", "url": "https://disease-ontology.org/term/DOID:10983", "evidence": [ { "id": "10983", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10983" } ], "weight": 0.0 }, { "disease_id": "DOID:11400", "name": "pyelonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:11400", "evidence": [ { "id": "11400", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11400" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:12662", "name": "paracoccidioidomycosis", "description": "A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis.", "url": "https://disease-ontology.org/term/DOID:12662", "evidence": [ { "id": "12662", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12662" } ], "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: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: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:2920", "name": "membranoproliferative glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:2920", "evidence": [ { "id": "2920", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2920" } ], "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: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: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: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: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: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: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:898", "name": "autosomal dominant polycystic kidney disease", "description": "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion.", "url": "https://disease-ontology.org/term/DOID:898", "evidence": [ { "id": "898", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:898" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "serine-type endopeptidase activity", "id": "GO:0004252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004252", "evidence": [ { "database": "UniProtKB", "id": "A0A096MKF9", "url": "https://www.uniprot.org/uniprotkb/A0A096MKF9" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "A0A096MKF9", "url": "https://www.uniprot.org/uniprotkb/A0A096MKF9" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "A0A096MKF9", "url": "https://www.uniprot.org/uniprotkb/A0A096MKF9" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "A0A096MKF9", "url": "https://www.uniprot.org/uniprotkb/A0A096MKF9" } ], "pmid": "" }, { "name": "symbiont cell surface", "id": "GO:0106139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106139", "evidence": [ { "database": "UniProtKB", "id": "A0A096MKF9", "url": "https://www.uniprot.org/uniprotkb/A0A096MKF9" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "A0A096MKF9", "url": "https://www.uniprot.org/uniprotkb/A0A096MKF9" } ], "pmid": "" }, { "name": "cytoplasmic side of Golgi membrane", "id": "GO:0098548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098548", "evidence": [ { "database": "UniProtKB", "id": "A0A096MKF9", "url": "https://www.uniprot.org/uniprotkb/A0A096MKF9" } ], "pmid": "" }, { "name": "classical-complement-pathway C3/C5 convertase complex", "id": "GO:0005601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005601", "evidence": [ { "database": "UniProtKB", "id": "A0A096MKF9", "url": "https://www.uniprot.org/uniprotkb/A0A096MKF9" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "A0A096MKF9", "url": "https://www.uniprot.org/uniprotkb/A0A096MKF9" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "A0A096MKF9", "url": "https://www.uniprot.org/uniprotkb/A0A096MKF9" } ], "pmid": "" }, { "name": "complement activation, classical pathway", "id": "GO:0006958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006958", "evidence": [ { "database": "UniProtKB", "id": "A0A096MKF9", "url": "https://www.uniprot.org/uniprotkb/A0A096MKF9" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "A0A096MKF9", "url": "https://www.uniprot.org/uniprotkb/A0A096MKF9" } ], "pmid": "" }, { "name": "complement activation", "id": "GO:0006956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006956", "evidence": [ { "database": "UniProtKB", "id": "A0A096MKF9", "url": "https://www.uniprot.org/uniprotkb/A0A096MKF9" } ], "pmid": "" }, { "name": "positive regulation of apoptotic cell clearance", "id": "GO:2000427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000427", "evidence": [ { "database": "UniProtKB", "id": "A0A096MKF9", "url": "https://www.uniprot.org/uniprotkb/A0A096MKF9" } ], "pmid": "" }, { "name": "complement activation, GZMK pathway", "id": "GO:0160257", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160257", "evidence": [ { "database": "UniProtKB", "id": "A0A096MKF9", "url": "https://www.uniprot.org/uniprotkb/A0A096MKF9" } ], "pmid": "" }, { "name": "response to nutrient", "id": "GO:0007584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007584", "evidence": [ { "database": "UniProtKB", "id": "A0A096MKF9", "url": "https://www.uniprot.org/uniprotkb/A0A096MKF9" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "A0A096MKF9", "url": "https://www.uniprot.org/uniprotkb/A0A096MKF9" } ], "pmid": "" }, { "name": "response to thyroid hormone", "id": "GO:0097066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097066", "evidence": [ { "database": "UniProtKB", "id": "A0A096MKF9", "url": "https://www.uniprot.org/uniprotkb/A0A096MKF9" } ], "pmid": "" }, { "name": "protein maturation", "id": "GO:0051604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051604", "evidence": [ { "database": "UniProtKB", "id": "A0A096MKF9", "url": "https://www.uniprot.org/uniprotkb/A0A096MKF9" } ], "pmid": "" }, { "name": "pre-B cell differentiation", "id": "GO:0002329", "url": 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"name": "embryonic brain development", "id": "GO:1990403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990403", "evidence": [ { "database": "UniProtKB", "id": "A0A096MKF8", "url": "https://www.uniprot.org/uniprotkb/A0A096MKF8" } ], "pmid": "" }, { "name": "Schwann cell development", "id": "GO:0014044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014044", "evidence": [ { "database": "UniProtKB", "id": "A0A096MKF8", "url": "https://www.uniprot.org/uniprotkb/A0A096MKF8" } ], "pmid": "" }, { "name": "embryonic neurocranium morphogenesis", "id": "GO:0048702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048702", "evidence": [ { "database": "UniProtKB", "id": "A0A096MKF8", "url": "https://www.uniprot.org/uniprotkb/A0A096MKF8" } ], "pmid": "" }, { "name": "post-anal tail morphogenesis", "id": "GO:0036342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036342", "evidence": [ { "database": "UniProtKB", "id": "A0A096MKF8", "url": "https://www.uniprot.org/uniprotkb/A0A096MKF8" } ], 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"database": "UniProtKB", "id": "M0R3J4", "url": "https://www.uniprot.org/uniprotkb/M0R3J4" } ], "pmid": "" }, { "name": "transmembrane signaling receptor activity", "id": "GO:0004888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004888", "evidence": [ { "database": "UniProtKB", "id": "M0R3J4", "url": "https://www.uniprot.org/uniprotkb/M0R3J4" } ], "pmid": "" }, { "name": "SMAD binding", "id": "GO:0046332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046332", "evidence": [ { "database": "UniProtKB", "id": "M0R3J4", "url": "https://www.uniprot.org/uniprotkb/M0R3J4" } ], "pmid": "" }, { "name": "BMP receptor activity", "id": "GO:0098821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098821", "evidence": [ { "database": "UniProtKB", "id": "M0R3J4", "url": "https://www.uniprot.org/uniprotkb/M0R3J4" } ], "pmid": "" }, { "name": "BMP binding", "id": "GO:0036122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036122", "evidence": [ { "database": "UniProtKB", "id": "M0R3J4", "url": 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"name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "M0R3J4", "url": "https://www.uniprot.org/uniprotkb/M0R3J4" } ], "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": "M0R3J4", "url": "https://www.uniprot.org/uniprotkb/M0R3J4" } ], "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": "M0R3J4", "url": "https://www.uniprot.org/uniprotkb/M0R3J4" } ], "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": "M0R3J4", "url": "https://www.uniprot.org/uniprotkb/M0R3J4" } ], "pmid": "" }, { "name": "positive regulation of bone mineralization", "id": "GO:0030501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030501", "evidence": [ { "database": "UniProtKB", "id": "M0R3J4", "url": "https://www.uniprot.org/uniprotkb/M0R3J4" } ], "pmid": "" }, { "name": "cell surface receptor protein serine/threonine kinase signaling pathway", "id": "GO:0007178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007178", "evidence": [ { "database": "UniProtKB", "id": "M0R3J4", "url": "https://www.uniprot.org/uniprotkb/M0R3J4" } ], "pmid": "" }, { "name": "cellular response to BMP stimulus", "id": "GO:0071773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071773", "evidence": [ { "database": "UniProtKB", "id": "M0R3J4", "url": "https://www.uniprot.org/uniprotkb/M0R3J4" } ], "pmid": "" }, { "name": "bone development", "id": "GO:0060348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060348", "evidence": [ { "database": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "M0R9W2", "url": "https://www.uniprot.org/uniprotkb/M0R9W2" } ], "pmid": "" }, { "name": "fertilization", "id": "GO:0009566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009566", "evidence": [ { "database": "UniProtKB", "id": "M0R9W2", "url": "https://www.uniprot.org/uniprotkb/M0R9W2" } ], "pmid": "" }, { "name": "regulation of protein localization", "id": "GO:0032880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032880", "evidence": [ { "database": "UniProtKB", "id": "M0R9W2", "url": "https://www.uniprot.org/uniprotkb/M0R9W2" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "M0R9W2", "url": "https://www.uniprot.org/uniprotkb/M0R9W2" } ], "pmid": "" }, { "name": "embryo implantation", "id": "GO:0007566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007566", "evidence": [ { "database": "UniProtKB", "id": "M0R9W2", "url": "https://www.uniprot.org/uniprotkb/M0R9W2" } ], "pmid": "" }, { "name": "positive regulation of double-strand break repair", "id": "GO:2000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000781", "evidence": [ { "database": "UniProtKB", "id": "M0R9W2", "url": "https://www.uniprot.org/uniprotkb/M0R9W2" } ], "pmid": "" }, { "name": "replication fork processing", "id": "GO:0031297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031297", "evidence": [ { "database": "UniProtKB", "id": "M0R9W2", "url": "https://www.uniprot.org/uniprotkb/M0R9W2" } ], "pmid": "" }, { "name": "embryonic pattern specification", "id": "GO:0009880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009880", "evidence": [ { "database": "UniProtKB", "id": "M0R9W2", "url": "https://www.uniprot.org/uniprotkb/M0R9W2" } ], "pmid": "" }, { "name": "regulation of cell division", "id": "GO:0051302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051302", "evidence": [ { "database": "UniProtKB", "id": "M0R9W2", "url": "https://www.uniprot.org/uniprotkb/M0R9W2" } ], "pmid": "" }, { "name": "establishment or maintenance of apical/basal cell polarity", "id": "GO:0035088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035088", "evidence": [ { "database": "UniProtKB", "id": "M0R9W2", "url": "https://www.uniprot.org/uniprotkb/M0R9W2" } ], "pmid": "" }, { "name": "regulation of establishment of protein localization", "id": "GO:0070201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070201", "evidence": [ { "database": "UniProtKB", "id": "M0R9W2", "url": "https://www.uniprot.org/uniprotkb/M0R9W2" } ], "pmid": "" }, { "name": "protein-containing complex assembly", "id": "GO:0065003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "evidence": [ { "database": "UniProtKB", "id": "M0R9W2", "url": "https://www.uniprot.org/uniprotkb/M0R9W2" } ], "pmid": "" }, { "name": "positive regulation of double-strand break repair via homologous recombination", "id": "GO:1905168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905168", "evidence": [ { "database": "UniProtKB", "id": "M0R9W2", "url": "https://www.uniprot.org/uniprotkb/M0R9W2" } ], "pmid": "" }, { "name": "protein storage", "id": "GO:0140089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140089", "evidence": [ { "database": "UniProtKB", "id": "M0R9W2", "url": "https://www.uniprot.org/uniprotkb/M0R9W2" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "M0R9W2", "url": "https://www.uniprot.org/uniprotkb/M0R9W2" } ], "pmid": "" }, { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "M0R9W2", "url": "https://www.uniprot.org/uniprotkb/M0R9W2" } ], "pmid": "" }, { "name": "structural constituent of cytoplasmic lattice", "id": "GO:0140094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140094", "evidence": [ { "database": "UniProtKB", "id": "M0R9W2", "url": "https://www.uniprot.org/uniprotkb/M0R9W2" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "M0R9W2", "url": "https://www.uniprot.org/uniprotkb/M0R9W2" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "M0R9W2", "url": "https://www.uniprot.org/uniprotkb/M0R9W2" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "M0R9W2", "url": "https://www.uniprot.org/uniprotkb/M0R9W2" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": 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"uniprot_canonical_ac": "M0RAY4-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "M0RAY4", "url": "https://www.uniprot.org/uniprotkb/M0RAY4" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 495, "chemical_mass": 54748.0, "gene_names": "Gdf5;Cdmp1;Gdf5", "protein_name": "Growth/differentiation factor 5", "disease": [ { "disease_id": "DOID:0050790", "name": "fibular hypoplasia and complex brachydactyly", "description": "An acromesomelic dysplasia that is characterized by severe reduction or absence of the fibula and complex brachydactyly.", "url": "https://disease-ontology.org/term/DOID:0050790", "evidence": [ { "id": "0050790", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050790" } ], "weight": 0.0 }, { "disease_id": "DOID:0050794", "name": "multiple synostoses syndrome", "description": "A dysostosis that is characterized by characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion.", "url": "https://disease-ontology.org/term/DOID:0050794", "evidence": [ { "id": "0050794", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050794" } ], "weight": 0.0 }, { "disease_id": "DOID:0060931", "name": "developmental dysplasia of the hip 1", "description": "A developmental dysplasia of the hip that is characterized by a shallow hip socket and that has_material_basis_in variation in the chromosomal region 13q22.", "url": "https://disease-ontology.org/term/DOID:0060931", "evidence": [ { "id": "0060931", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060931" } ], "weight": 0.0 }, { "disease_id": "DOID:0080051", "name": "acromesomelic dysplasia, Hunter-Thompson type", "description": "An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot.", "url": "https://disease-ontology.org/term/DOID:0080051", "evidence": [ { "id": "0080051", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080051" } ], "weight": 0.0 }, { "disease_id": "DOID:0080052", "name": "acromesomelic dysplasia, Grebe type", "description": "An acromesomelic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the CDMP1 gene on chromosome 20q11.", "url": "https://disease-ontology.org/term/DOID:0080052", "evidence": [ { "id": "0080052", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080052" } ], "weight": 0.0 }, { "disease_id": "DOID:0080788", "name": "proximal symphalangism 2", "description": "A proximal symphalangism that is characterized by absence of the cuboid bone and lack of shortness of the first and fifth metacarpal bones, and the presence of distal interphalangeal joint fusions and flat feet and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11.", "url": "https://disease-ontology.org/term/DOID:0080788", "evidence": [ { "id": "0080788", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080788" } ], "weight": 0.0 }, { "disease_id": "DOID:0081317", "name": "multiple synostoses syndrome 1", "description": "A multiple synostoses syndrome is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22.", "url": "https://disease-ontology.org/term/DOID:0081317", "evidence": [ { "id": "0081317", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081317" } ], "weight": 0.0 }, { "disease_id": "DOID:0081318", "name": "multiple synostoses syndrome 2", "description": "A multiple synostoses syndrome that is characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11.", "url": "https://disease-ontology.org/term/DOID:0081318", "evidence": [ { "id": "0081318", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081318" } ], "weight": 0.0 }, { "disease_id": "DOID:0110964", "name": "brachydactyly type A1", "description": "A brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes.", "url": "https://disease-ontology.org/term/DOID:0110964", "evidence": [ { "id": "0110964", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110964" } ], "weight": 0.0 }, { "disease_id": "DOID:0110965", "name": "brachydactyly type A2", "description": "A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12.", "url": "https://disease-ontology.org/term/DOID:0110965", "evidence": [ { "id": "0110965", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110965" } ], "weight": 0.0 }, { "disease_id": "DOID:0110970", "name": "brachydactyly type C", "description": "A brachydactyly characterized by rachymesophalangy of the index, middle and little fingers, hyperphalangy of the index and middle finger, and shortening of the 1st metacarpal that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11.", "url": "https://disease-ontology.org/term/DOID:0110970", "evidence": [ { "id": "0110970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110970" } ], "weight": 0.0 }, { "disease_id": "DOID:0110977", "name": "brachydactyly type A1C", "description": "A brachydactyly type A1 has_material_basis_in homozygous or heterozygous mutation in the GDF5 gene on chromosome 20q11.", "url": "https://disease-ontology.org/term/DOID:0110977", "evidence": [ { "id": "0110977", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110977" } ], "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: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 } ], "biological_process": [ { "name": "negative regulation of mesenchymal cell apoptotic process", "id": "GO:2001054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001054", "evidence": [ { "database": "UniProtKB", "id": "M0RAY4", "url": "https://www.uniprot.org/uniprotkb/M0RAY4" } ], "pmid": "" }, { "name": "regulation of multicellular organism growth", "id": "GO:0040014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040014", "evidence": [ { "database": "UniProtKB", "id": "M0RAY4", "url": "https://www.uniprot.org/uniprotkb/M0RAY4" } ], "pmid": "" }, { "name": "positive regulation of neuron differentiation", "id": "GO:0045666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666", "evidence": [ { "database": "UniProtKB", "id": "M0RAY4", "url": "https://www.uniprot.org/uniprotkb/M0RAY4" } ], "pmid": "" }, { "name": "negative regulation of epithelial cell proliferation", "id": "GO:0050680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050680", "evidence": [ { "database": "UniProtKB", "id": "M0RAY4", "url": "https://www.uniprot.org/uniprotkb/M0RAY4" } ], "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": "M0RAY4", "url": "https://www.uniprot.org/uniprotkb/M0RAY4" } ], "pmid": "" }, { "name": "response to mechanical stimulus", "id": "GO:0009612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009612", "evidence": [ { "database": "UniProtKB", "id": "M0RAY4", "url": "https://www.uniprot.org/uniprotkb/M0RAY4" } ], "pmid": "" }, { "name": "embryonic limb morphogenesis", "id": "GO:0030326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030326", "evidence": [ { "database": "UniProtKB", "id": "M0RAY4", "url": "https://www.uniprot.org/uniprotkb/M0RAY4" } ], "pmid": "" }, { "name": "BMP signaling pathway", "id": "GO:0030509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030509", "evidence": [ { "database": "UniProtKB", "id": "M0RAY4", "url": "https://www.uniprot.org/uniprotkb/M0RAY4" } ], "pmid": "" }, { "name": "cell surface receptor protein serine/threonine kinase signaling pathway", "id": "GO:0007178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007178", "evidence": [ { "database": "UniProtKB", "id": "M0RAY4", "url": "https://www.uniprot.org/uniprotkb/M0RAY4" } ], "pmid": "" }, { "name": "positive regulation of BMP signaling pathway", "id": "GO:0030513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030513", "evidence": [ { "database": "UniProtKB", "id": "M0RAY4", "url": "https://www.uniprot.org/uniprotkb/M0RAY4" } ], "pmid": "" }, { "name": "positive regulation of chondrocyte differentiation", "id": "GO:0032332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032332", "evidence": [ { "database": "UniProtKB", "id": "M0RAY4", "url": "https://www.uniprot.org/uniprotkb/M0RAY4" } ], "pmid": "" }, { "name": "forelimb morphogenesis", "id": "GO:0035136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035136", "evidence": [ { "database": "UniProtKB", "id": "M0RAY4", "url": "https://www.uniprot.org/uniprotkb/M0RAY4" } ], "pmid": "" }, { "name": "hindlimb morphogenesis", "id": "GO:0035137", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035137", "evidence": [ { "database": "UniProtKB", "id": "M0RAY4", "url": "https://www.uniprot.org/uniprotkb/M0RAY4" } ], "pmid": "" }, { "name": "negative regulation of chondrocyte differentiation", "id": "GO:0032331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032331", "evidence": [ { "database": "UniProtKB", "id": "M0RAY4", "url": "https://www.uniprot.org/uniprotkb/M0RAY4" } ], "pmid": "" }, { "name": "positive regulation of SMAD protein signal transduction", "id": "GO:0060391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060391", "evidence": [ { "database": "UniProtKB", "id": "M0RAY4", "url": "https://www.uniprot.org/uniprotkb/M0RAY4" } ], "pmid": "" }, { "name": "chondroblast differentiation", "id": "GO:0060591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060591", "evidence": [ { "database": "UniProtKB", "id": "M0RAY4", "url": "https://www.uniprot.org/uniprotkb/M0RAY4" } ], "pmid": "" }, { "name": "ossification involved in bone remodeling", "id": "GO:0043932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043932", "evidence": [ { "database": "UniProtKB", "id": "M0RAY4", "url": "https://www.uniprot.org/uniprotkb/M0RAY4" } ], "pmid": "" } ], "molecular_function": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "M0RAY4", "url": 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"" }, { "name": "protein processing", "id": "GO:0016485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016485", "evidence": [ { "database": "UniProtKB", "id": "Q4KLJ4", "url": "https://www.uniprot.org/uniprotkb/Q4KLJ4" } ], "pmid": "" }, { "name": "extracellular matrix organization", "id": "GO:0030198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", "evidence": [ { "database": "UniProtKB", "id": "Q4KLJ4", "url": "https://www.uniprot.org/uniprotkb/Q4KLJ4" } ], "pmid": "" }, { "name": "neuromuscular process", "id": "GO:0050905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050905", "evidence": [ { "database": "UniProtKB", "id": "Q4KLJ4", "url": "https://www.uniprot.org/uniprotkb/Q4KLJ4" } ], "pmid": "" }, { "name": "protein tetramerization", "id": "GO:0051262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051262", "evidence": [ { "database": "UniProtKB", "id": "Q4KLJ4", "url": "https://www.uniprot.org/uniprotkb/Q4KLJ4" } ], "pmid": "" }, { "name": "neuron migration", "id": 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"UniProtKB", "id": "Q5J3I6", "url": "https://www.uniprot.org/uniprotkb/Q5J3I6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q5J3I6-1" }, { "uniprot_canonical_ac": "Q5J3K8-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q5J3K8", "url": "https://www.uniprot.org/uniprotkb/Q5J3K8" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 306, "chemical_mass": 34475.0, "gene_names": "Vom1r108;V1rg6;Vom1r108", "protein_name": "Vomeronasal type-1 receptor", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q5J3K8", "url": "https://www.uniprot.org/uniprotkb/Q5J3K8" } ], "pmid": "" } ], "biological_process": [ { "name": "response to pheromone", "id": "GO:0019236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019236", "evidence": [ { "database": "UniProtKB", "id": "Q5J3K8", "url": "https://www.uniprot.org/uniprotkb/Q5J3K8" } ], "pmid": "" }, { "name": "sensory perception of chemical stimulus", "id": "GO:0007606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007606", "evidence": [ { "database": "UniProtKB", "id": "Q5J3K8", "url": "https://www.uniprot.org/uniprotkb/Q5J3K8" } ], "pmid": "" } ], "molecular_function": [ { "name": "pheromone binding", "id": "GO:0005550", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005550", "evidence": [ { "database": "UniProtKB", "id": "Q5J3K8", "url": "https://www.uniprot.org/uniprotkb/Q5J3K8" } ], "pmid": "" }, { "name": "pheromone receptor activity", "id": "GO:0016503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016503", "evidence": [ { "database": "UniProtKB", "id": "Q5J3K8", "url": "https://www.uniprot.org/uniprotkb/Q5J3K8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q5J3K8-1" }, { "uniprot_canonical_ac": "Q5PQR1-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q5PQR1", "url": "https://www.uniprot.org/uniprotkb/Q5PQR1" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 614, "chemical_mass": 68304.0, "gene_names": "Ceacam18;Zfp819;RGD1309564;Zfp819", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q5PQR1", "url": "https://www.uniprot.org/uniprotkb/Q5PQR1" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q5PQR1", "url": "https://www.uniprot.org/uniprotkb/Q5PQR1" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q5PQR1", "url": "https://www.uniprot.org/uniprotkb/Q5PQR1" } ], "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": "Q5PQR1", "url": "https://www.uniprot.org/uniprotkb/Q5PQR1" } ], "pmid": "" }, { "name": "homophilic cell adhesion via plasma membrane adhesion molecules", "id": "GO:0007156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007156", "evidence": [ { "database": "UniProtKB", "id": "Q5PQR1", "url": "https://www.uniprot.org/uniprotkb/Q5PQR1" } ], "pmid": "" }, { "name": "heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules", "id": "GO:0007157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007157", "evidence": [ { "database": "UniProtKB", "id": "Q5PQR1", "url": "https://www.uniprot.org/uniprotkb/Q5PQR1" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q5PQR1", "url": "https://www.uniprot.org/uniprotkb/Q5PQR1" } ], "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": "Q5PQR1", "url": "https://www.uniprot.org/uniprotkb/Q5PQR1" } ], "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": "Q5PQR1", "url": "https://www.uniprot.org/uniprotkb/Q5PQR1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q5PQR1-1" }, { "uniprot_canonical_ac": "Q5S3S9-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q5S3S9", "url": "https://www.uniprot.org/uniprotkb/Q5S3S9" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 673, "chemical_mass": 74169.0, "gene_names": "Zbtb16;Lx;Plzf;Zbtb16;Zfp145;Znf145", "protein_name": "", "disease": [ { "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:0080700", "name": "caudal regression syndrome", "description": "A physical disorder that is characterized by impairment of the development of the lower half of the body.", "url": "https://disease-ontology.org/term/DOID:0080700", "evidence": [ { "id": "0080700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080700" } ], "weight": 0.0 }, { "disease_id": "DOID:1148", "name": "polydactyly", "description": "A physical disorder that is characterized by the presence of more than five fingers per hand or five toes per foot.", "url": "https://disease-ontology.org/term/DOID:1148", "evidence": [ { "id": "1148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1148" } ], "weight": 0.0 } ], "biological_process": [ { "name": "ossification involved in bone maturation", "id": "GO:0043931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043931", "evidence": [ { "database": "UniProtKB", "id": "Q5S3S9", "url": "https://www.uniprot.org/uniprotkb/Q5S3S9" } ], "pmid": "" }, { "name": "male germ-line stem cell asymmetric division", "id": "GO:0048133", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048133", "evidence": [ { "database": "UniProtKB", "id": "Q5S3S9", "url": "https://www.uniprot.org/uniprotkb/Q5S3S9" } ], "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": "Q5S3S9", "url": "https://www.uniprot.org/uniprotkb/Q5S3S9" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q5S3S9", "url": "https://www.uniprot.org/uniprotkb/Q5S3S9" } ], "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": "Q5S3S9", "url": "https://www.uniprot.org/uniprotkb/Q5S3S9" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "Q5S3S9", "url": "https://www.uniprot.org/uniprotkb/Q5S3S9" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q5S3S9", "url": "https://www.uniprot.org/uniprotkb/Q5S3S9" } ], "pmid": "" }, { "name": "positive regulation of fat cell differentiation", "id": "GO:0045600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045600", "evidence": [ { "database": "UniProtKB", "id": "Q5S3S9", "url": "https://www.uniprot.org/uniprotkb/Q5S3S9" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q5S3S9", "url": "https://www.uniprot.org/uniprotkb/Q5S3S9" } ], "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": "Q5S3S9", "url": "https://www.uniprot.org/uniprotkb/Q5S3S9" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "Q5S3S9", "url": "https://www.uniprot.org/uniprotkb/Q5S3S9" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "Q5S3S9", "url": "https://www.uniprot.org/uniprotkb/Q5S3S9" } ], "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": "Q5S3S9", "url": "https://www.uniprot.org/uniprotkb/Q5S3S9" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "Q5S3S9", "url": "https://www.uniprot.org/uniprotkb/Q5S3S9" } ], "pmid": "" }, { "name": "hemopoiesis", "id": "GO:0030097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030097", "evidence": [ { "database": "UniProtKB", "id": "Q5S3S9", "url": "https://www.uniprot.org/uniprotkb/Q5S3S9" } ], "pmid": "" }, { "name": "positive regulation of chondrocyte differentiation", "id": "GO:0032332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032332", "evidence": [ { "database": "UniProtKB", "id": "Q5S3S9", "url": "https://www.uniprot.org/uniprotkb/Q5S3S9" } ], "pmid": "" }, { "name": "protein localization to nucleus", "id": "GO:0034504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034504", "evidence": [ { "database": "UniProtKB", "id": "Q5S3S9", "url": "https://www.uniprot.org/uniprotkb/Q5S3S9" } ], "pmid": "" }, { "name": "positive regulation of NK T cell differentiation", "id": "GO:0051138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051138", "evidence": [ { "database": "UniProtKB", "id": "Q5S3S9", "url": "https://www.uniprot.org/uniprotkb/Q5S3S9" } ], "pmid": "" }, { "name": "embryonic hindlimb morphogenesis", "id": "GO:0035116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035116", "evidence": [ { "database": "UniProtKB", "id": "Q5S3S9", "url": "https://www.uniprot.org/uniprotkb/Q5S3S9" } ], "pmid": "" }, { "name": "embryonic digit morphogenesis", "id": "GO:0042733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042733", "evidence": [ { "database": "UniProtKB", "id": "Q5S3S9", "url": "https://www.uniprot.org/uniprotkb/Q5S3S9" } ], "pmid": "" }, { "name": "forelimb morphogenesis", "id": "GO:0035136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035136", "evidence": [ { "database": "UniProtKB", "id": "Q5S3S9", "url": "https://www.uniprot.org/uniprotkb/Q5S3S9" } ], "pmid": "" }, { "name": "hindlimb morphogenesis", "id": "GO:0035137", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035137", "evidence": [ { "database": "UniProtKB", "id": "Q5S3S9", "url": "https://www.uniprot.org/uniprotkb/Q5S3S9" } ], "pmid": "" }, { "name": "cartilage development", "id": "GO:0051216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051216", "evidence": [ { "database": "UniProtKB", "id": "Q5S3S9", "url": "https://www.uniprot.org/uniprotkb/Q5S3S9" } ], "pmid": "" }, { "name": "negative regulation of myeloid cell differentiation", "id": "GO:0045638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045638", "evidence": [ { "database": "UniProtKB", "id": "Q5S3S9", "url": "https://www.uniprot.org/uniprotkb/Q5S3S9" } ], "pmid": "" }, { "name": "mesonephros development", "id": "GO:0001823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001823", "evidence": [ { "database": "UniProtKB", "id": "Q5S3S9", "url": "https://www.uniprot.org/uniprotkb/Q5S3S9" } ], "pmid": "" }, { "name": "embryonic pattern specification", "id": "GO:0009880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009880", "evidence": [ { "database": "UniProtKB", "id": "Q5S3S9", "url": "https://www.uniprot.org/uniprotkb/Q5S3S9" } ], "pmid": "" }, { "name": "positive regulation of cartilage development", "id": "GO:0061036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061036", "evidence": [ { "database": "UniProtKB", "id": "Q5S3S9", "url": "https://www.uniprot.org/uniprotkb/Q5S3S9" } ], "pmid": "" }, { "name": "positive regulation of ossification", "id": "GO:0045778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045778", "evidence": [ { "database": "UniProtKB", "id": "Q5S3S9", "url": "https://www.uniprot.org/uniprotkb/Q5S3S9" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q5S3S9", "url": "https://www.uniprot.org/uniprotkb/Q5S3S9" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q5S3S9", "url": "https://www.uniprot.org/uniprotkb/Q5S3S9" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q5S3S9", "url": "https://www.uniprot.org/uniprotkb/Q5S3S9" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "Q5S3S9", "url": "https://www.uniprot.org/uniprotkb/Q5S3S9" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q5S3S9", "url": "https://www.uniprot.org/uniprotkb/Q5S3S9" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q5S3S9", "url": "https://www.uniprot.org/uniprotkb/Q5S3S9" } ], "pmid": "" }, { "name": "double-stranded DNA binding", "id": "GO:0003690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003690", "evidence": [ { "database": "UniProtKB", "id": "Q5S3S9", "url": "https://www.uniprot.org/uniprotkb/Q5S3S9" } ], "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": "Q5S3S9", "url": "https://www.uniprot.org/uniprotkb/Q5S3S9" } ], "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": "Q5S3S9", "url": "https://www.uniprot.org/uniprotkb/Q5S3S9" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "Q5S3S9", "url": "https://www.uniprot.org/uniprotkb/Q5S3S9" } ], "pmid": "" }, { "name": "type 2 angiotensin receptor binding", "id": "GO:0031703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031703", "evidence": [ { "database": "UniProtKB", "id": "Q5S3S9", "url": "https://www.uniprot.org/uniprotkb/Q5S3S9" } ], "pmid": "" }, { "name": "transcription corepressor binding", "id": "GO:0001222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001222", "evidence": [ { "database": "UniProtKB", "id": "Q5S3S9", "url": "https://www.uniprot.org/uniprotkb/Q5S3S9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": 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"Q9ESV7", "url": "https://www.uniprot.org/uniprotkb/Q9ESV7" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "Q9ESV7", "url": "https://www.uniprot.org/uniprotkb/Q9ESV7" } ], "pmid": "" }, { "name": "digestive tract development", "id": "GO:0048565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048565", "evidence": [ { "database": "UniProtKB", "id": "Q9ESV7", "url": "https://www.uniprot.org/uniprotkb/Q9ESV7" } ], "pmid": "" }, { "name": "pattern specification process", "id": "GO:0007389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007389", "evidence": [ { "database": "UniProtKB", "id": "Q9ESV7", "url": "https://www.uniprot.org/uniprotkb/Q9ESV7" } ], "pmid": "" }, { "name": "somatic stem cell population maintenance", "id": "GO:0035019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035019", "evidence": [ { "database": "UniProtKB", "id": "Q9ESV7", "url": "https://www.uniprot.org/uniprotkb/Q9ESV7" } ], "pmid": "" }, { "name": "anterior/posterior axis specification", "id": "GO:0009948", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009948", "evidence": [ { "database": "UniProtKB", "id": "Q9ESV7", "url": "https://www.uniprot.org/uniprotkb/Q9ESV7" } ], "pmid": "" }, { "name": "regulation of somitogenesis", "id": "GO:0014807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014807", "evidence": [ { "database": "UniProtKB", "id": "Q9ESV7", "url": "https://www.uniprot.org/uniprotkb/Q9ESV7" } ], "pmid": "" }, { "name": "embryonic pattern specification", "id": "GO:0009880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009880", "evidence": [ { "database": "UniProtKB", "id": "Q9ESV7", "url": "https://www.uniprot.org/uniprotkb/Q9ESV7" } ], "pmid": "" }, { "name": "blastocyst development", "id": "GO:0001824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001824", "evidence": [ { "database": "UniProtKB", "id": "Q9ESV7", "url": 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