[ { "uniprot_canonical_ac": "Q91ZX1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91ZX1", "url": "https://www.uniprot.org/uniprotkb/Q91ZX1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 238, "chemical_mass": 27149.0, "gene_names": "Cd209a;CD209;CDSIGN;CIRE;Cd209a;Cire;DC-SIGN1;DC-SIGN;Dcsign;SIGN-R1;SIGNR5", "protein_name": "CD209 antigen-like protein A", "disease": [ { "disease_id": "DOID:0050598", "name": "extrapulmonary tuberculosis", "description": "A tuberculosis that occurs at body sites other than the lung.", "url": "https://disease-ontology.org/term/DOID:0050598", "evidence": [ { "id": "0050598", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050598" } ], "weight": 0.0 }, { "disease_id": "DOID:0050827", "name": "rheumatic heart disease", "description": "A heart valve disease that is characterized by repeated inflammation with fibrinous repair caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords.", "url": "https://disease-ontology.org/term/DOID:0050827", "evidence": [ { "id": "0050827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050827" } ], "weight": 0.0 }, { "disease_id": "DOID:0080599", "name": "Coronavirus infectious disease", "description": "A viral infectious disease that has_material_basis_in Coronavirus.", "url": "https://disease-ontology.org/term/DOID:0080599", "evidence": [ { "id": "0080599", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080599" } ], "weight": 0.0 }, { "disease_id": "DOID:11650", "name": "bronchopulmonary dysplasia", "description": "A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.", "url": "https://disease-ontology.org/term/DOID:11650", "evidence": [ { "id": "11650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ], "weight": 0.0 }, { "disease_id": "DOID:12205", "name": "dengue disease", "description": "A viral infectious disease that results in infection, has_material_basis_in Dengue virus (Orthoflavivirus denguei), which are transmitted by Aedes mosquito bite. The infection has symptom fever, has symptom severe headache, has symptom severe pain behind the eyes, has symptom joint pain, has symptom muscle and bone pain, has symptom rash, and has symptom mild bleeding.", "url": "https://disease-ontology.org/term/DOID:12205", "evidence": [ { "id": "12205", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12205" } ], "weight": 0.0 }, { "disease_id": "DOID:12206", "name": "dengue hemorrhagic fever", "description": "A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus (Orthoflavivirus denguei) serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever. Four distinct Dengue virus serotypes have been identified.", "url": "https://disease-ontology.org/term/DOID:12206", "evidence": [ { "id": "12206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12206" } ], "weight": 0.0 }, { "disease_id": "DOID:13564", "name": "aspergillosis", "description": "An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system.", "url": "https://disease-ontology.org/term/DOID:13564", "evidence": [ { "id": "13564", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13564" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:635", "name": "acquired immunodeficiency syndrome", "description": "A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS.", "url": "https://disease-ontology.org/term/DOID:635", "evidence": [ { "id": "635", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:635" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX1", "url": "https://www.uniprot.org/uniprotkb/Q91ZX1" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX1", "url": "https://www.uniprot.org/uniprotkb/Q91ZX1" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX1", "url": "https://www.uniprot.org/uniprotkb/Q91ZX1" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX1", "url": "https://www.uniprot.org/uniprotkb/Q91ZX1" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX1", "url": "https://www.uniprot.org/uniprotkb/Q91ZX1" } ], "pmid": "" } ], "biological_process": [ { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX1", "url": "https://www.uniprot.org/uniprotkb/Q91ZX1" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX1", "url": "https://www.uniprot.org/uniprotkb/Q91ZX1" } ], "pmid": "" }, { "name": "leukocyte cell-cell adhesion", "id": "GO:0007159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007159", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX1", "url": "https://www.uniprot.org/uniprotkb/Q91ZX1" } ], "pmid": "" }, { "name": "symbiont entry into host cell", "id": "GO:0046718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046718", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX1", "url": "https://www.uniprot.org/uniprotkb/Q91ZX1" } ], "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": "Q91ZX1", "url": "https://www.uniprot.org/uniprotkb/Q91ZX1" } ], "pmid": "" }, { "name": "positive regulation of viral life cycle", "id": "GO:1903902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903902", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX1", "url": "https://www.uniprot.org/uniprotkb/Q91ZX1" } ], "pmid": "" }, { "name": "dendritic cell migration", "id": "GO:0036336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036336", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX1", "url": "https://www.uniprot.org/uniprotkb/Q91ZX1" } ], "pmid": "" }, { "name": "regulation of T cell proliferation", "id": "GO:0042129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042129", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX1", "url": "https://www.uniprot.org/uniprotkb/Q91ZX1" } ], "pmid": "" }, { "name": "B cell adhesion", "id": "GO:0097323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097323", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX1", "url": "https://www.uniprot.org/uniprotkb/Q91ZX1" } ], "pmid": "" }, { "name": "immature T cell proliferation", "id": "GO:0033079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033079", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX1", "url": "https://www.uniprot.org/uniprotkb/Q91ZX1" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX1", "url": "https://www.uniprot.org/uniprotkb/Q91ZX1" } ], "pmid": "" }, { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX1", "url": "https://www.uniprot.org/uniprotkb/Q91ZX1" } ], "pmid": "" }, { "name": "virus receptor activity", "id": "GO:0001618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001618", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX1", "url": "https://www.uniprot.org/uniprotkb/Q91ZX1" } ], "pmid": "" }, { "name": "D-mannose binding", "id": "GO:0005537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005537", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX1", "url": "https://www.uniprot.org/uniprotkb/Q91ZX1" } ], "pmid": "" }, { "name": "pattern recognition receptor activity", "id": "GO:0038187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038187", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX1", "url": "https://www.uniprot.org/uniprotkb/Q91ZX1" } ], "pmid": "" }, { "name": "carbohydrate derivative binding", "id": "GO:0097367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097367", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX1", "url": "https://www.uniprot.org/uniprotkb/Q91ZX1" } ], "pmid": "" }, { "name": "cell adhesion receptor activity", "id": "GO:0004895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004895", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX1", "url": "https://www.uniprot.org/uniprotkb/Q91ZX1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91ZX1-1", "start_pos": "130", "end_pos": "130", "site_lbl": "Asn130", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 130, "start_aa": "Asn", "end_pos": 130, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn130", "evidence": [ { "id": "Q91ZX1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q91ZX1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q91ZX1-1", "start_pos": "216", "end_pos": "216", "site_lbl": "Asn216", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 216, "start_aa": "Asn", "end_pos": 216, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn216", "evidence": [ { "id": "Q91ZX1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q91ZX1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q91ZX1-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Ser2", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (SDS->NDS); glycogene of type=glycogene, lectin/c-type/type 2 receptor.", "chr_id": "8", "chr_pos": "3798902", "evidence": [ { "id": "rs3388961635", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388961635" } ] }, { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/type 2 receptor.", "chr_id": "8", "chr_pos": "3798902", "evidence": [ { "id": "rs3388961635", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388961635" } ] } ] }, { "uniprot_canonical_ac": "Q91ZX1-1", "start_pos": "103", "end_pos": "103", "site_lbl": "Arg103", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/type 2 receptor.", "chr_id": "8", "chr_pos": "3797030", "evidence": [ { "id": "rs3546319604", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3546319604" } ] }, { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/type 2 receptor.", "chr_id": "8", "chr_pos": "3797029", "evidence": [ { "id": "rs226675030", "database": "dbSNP", "url": 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}, { "uniprot_canonical_ac": "Q91ZX1-1", "start_pos": "125", "end_pos": "125", "site_lbl": "Ala125", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/type 2 receptor.", "chr_id": "8", "chr_pos": "3796964", "evidence": [ { "id": "rs47257590", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47257590" } ] } ] }, { "uniprot_canonical_ac": "Q91ZX1-1", "start_pos": "13", "end_pos": "13", "site_lbl": "Arg13", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/type 2 receptor.", "chr_id": "8", "chr_pos": "3798870", "evidence": [ { "id": "rs50496201", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs50496201" } ] } ] }, { "uniprot_canonical_ac": "Q91ZX1-1", "start_pos": "171", "end_pos": "171", 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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: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:13948", "name": "bladder neck obstruction", "description": "", "url": "https://disease-ontology.org/term/DOID:13948", "evidence": [ { "id": "13948", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13948" } ], "weight": 0.0 }, { "disease_id": "DOID:13949", "name": "interstitial cystitis", "description": "", "url": "https://disease-ontology.org/term/DOID:13949", "evidence": [ { "id": "13949", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13949" } ], "weight": 0.0 }, { "disease_id": "DOID:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:1459", "evidence": [ { "id": "1459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:1679", "name": "cystitis", "description": "A bladder disease that is characterized by inflammation of the bladder.", "url": "https://disease-ontology.org/term/DOID:1679", "evidence": [ { "id": "1679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1679" } ], "weight": 0.0 }, { "disease_id": "DOID:1686", "name": "glaucoma", "description": "An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function.", "url": "https://disease-ontology.org/term/DOID:1686", "evidence": [ { "id": "1686", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1686" } ], "weight": 0.0 }, { "disease_id": "DOID:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID:2559", "name": "opiate dependence", "description": "A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2559", "evidence": [ { "id": "2559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2559" } ], "weight": 0.0 }, { "disease_id": "DOID:2560", "name": "morphine dependence", "description": "An opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2560", "evidence": [ { "id": "2560", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2560" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney.", "url": "https://disease-ontology.org/term/DOID:2921", "evidence": [ { "id": "2921", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID: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:431", "name": "myofascial pain syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:431", "evidence": [ { "id": "431", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:431" } ], "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:5154", "name": "borna disease", "description": "A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus (Orthobornavirus bornaense), which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment.", "url": "https://disease-ontology.org/term/DOID:5154", "evidence": [ { "id": "5154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5154" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 }, { "disease_id": "DOID: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:90", "name": "degenerative disc disease", "description": "A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc.", "url": "https://disease-ontology.org/term/DOID:90", "evidence": [ { "id": "90", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:90" } ], "weight": 0.0 }, { "disease_id": "DOID:9279", "name": "hyperhomocysteinemia", "description": "An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood.", "url": "https://disease-ontology.org/term/DOID:9279", "evidence": [ { "id": "9279", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9279" } ], "weight": 0.0 }, { "disease_id": "DOID:9470", "name": "bacterial meningitis", "description": "A meningitis that has_material_basis_in a bacterial infection.", "url": "https://disease-ontology.org/term/DOID:9470", "evidence": [ { "id": "9470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9470" } ], "weight": 0.0 }, { "disease_id": "DOID:9505", "name": "cannabis abuse", "description": "A substance abuse that involves the recurring use of cannabis despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:9505", "evidence": [ { "id": "9505", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9505" } ], "weight": 0.0 }, { "disease_id": "DOID:9743", "name": "diabetic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:9743", "evidence": [ { "id": "9743", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9743" } ], "weight": 0.0 }, { "disease_id": "DOID:9975", "name": "cocaine dependence", "description": "A drug dependence that is a psychological dependency on the regular use of cocaine.", "url": "https://disease-ontology.org/term/DOID:9975", "evidence": [ { "id": "9975", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9975" } ], "weight": 0.0 }, { "disease_id": "DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of Ras protein signal transduction", "id": "GO:0046579", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046579", "evidence": [ { "database": "UniProtKB", "id": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "pmid": "" }, { "name": "positive regulation of stem cell proliferation", "id": "GO:2000648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000648", "evidence": [ { "database": "UniProtKB", "id": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "pmid": "" }, { "name": "cell surface receptor protein tyrosine kinase signaling pathway", "id": "GO:0007169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007169", "evidence": [ { "database": "UniProtKB", "id": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "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": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "pmid": "" }, { "name": "adult locomotory behavior", "id": "GO:0008344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008344", "evidence": [ { "database": "UniProtKB", "id": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "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": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "pmid": "" }, { "name": "positive regulation of cell growth", "id": "GO:0030307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030307", "evidence": [ { "database": "UniProtKB", "id": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "pmid": "" }, { "name": "positive regulation of neuron differentiation", "id": "GO:0045666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666", "evidence": [ { "database": "UniProtKB", "id": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "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": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "pmid": "" }, { "name": "neuron apoptotic process", "id": "GO:0051402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051402", "evidence": [ { "database": "UniProtKB", "id": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "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": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "pmid": "" }, { "name": "sensory perception of pain", "id": "GO:0019233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019233", "evidence": [ { "database": "UniProtKB", "id": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "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": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "pmid": "" }, { "name": "regulation of neuron differentiation", "id": "GO:0045664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045664", "evidence": [ { "database": "UniProtKB", "id": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "pmid": "" }, { "name": "regulation of neurotransmitter secretion", "id": "GO:0046928", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046928", "evidence": [ { "database": "UniProtKB", "id": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "pmid": "" }, { "name": "positive regulation of neurotrophin TRK receptor signaling pathway", "id": "GO:0051388", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051388", "evidence": [ { "database": "UniProtKB", "id": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "P01139", "url": 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"uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "248", "end_pos": "248", "site_lbl": "Val248", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92198151", "evidence": [ { "id": "rs3388572755", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388572755" } ] }, { "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92198151", "evidence": [ { "id": "rs3388572755", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388572755" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "258", "end_pos": "258", "site_lbl": "Met258", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92198122", "evidence": [ { "id": "rs3388575564", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388575564" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "264", "end_pos": "264", "site_lbl": "Asp264", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92198103", "evidence": [ { "id": "rs3391873913", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391873913" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "270", "end_pos": "270", "site_lbl": "Ala270", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92197996", "evidence": [ { "id": "rs3388574801", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388574801" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "306", "end_pos": "306", "site_lbl": "Leu306", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92197889", "evidence": [ { "id": "rs3391952013", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391952013" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "307", "end_pos": "307", "site_lbl": "Lys307", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92197886", "evidence": [ { "id": "rs3391747583", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391747583" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "308", "end_pos": "308", "site_lbl": "Val308", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92197768", "evidence": [ { "id": "rs3388567656", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388567656" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "315", "end_pos": "315", "site_lbl": "Lys315", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92197746", "evidence": [ { "id": "rs3388564412", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388564412" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "322", "end_pos": "322", "site_lbl": "Lys322", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92197726", "evidence": [ { "id": "rs3388567622", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388567622" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "340", "end_pos": "340", "site_lbl": "Lys340", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92197746", "evidence": [ { "id": "rs3388564412", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388564412" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "379", "end_pos": "379", "site_lbl": "Gln379", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92197464", "evidence": [ { "id": "rs3388572824", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388572824" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "41", "end_pos": "41", "site_lbl": "Thr41", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92200988", "evidence": [ { "id": "rs3388567222", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388567222" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "422", "end_pos": "422", "site_lbl": "Arg422", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92196916", "evidence": [ { "id": "rs3507679759", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3507679759" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "423", "end_pos": "423", "site_lbl": "His423", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92196911", "evidence": [ { "id": "rs3391889497", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391889497" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "426", "end_pos": "426", "site_lbl": "Gly426", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92196904", "evidence": [ { "id": "rs3388574737", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388574737" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "429", "end_pos": "429", "site_lbl": "Ser429", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92196894", "evidence": [ { "id": "rs3388570270", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388570270" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "455", "end_pos": "455", "site_lbl": "Arg455", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92196816", "evidence": [ { "id": "rs3388572150", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388572150" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "464", "end_pos": "464", "site_lbl": "Tyr464", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92196790", "evidence": [ { "id": "rs3391891067", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391891067" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "466", "end_pos": "466", "site_lbl": "Asp466", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92196784", "evidence": [ { "id": "rs3391951877", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391951877" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "467", "end_pos": "467", "site_lbl": "Gly467", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92196781", "evidence": [ { "id": "rs3388564420", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388564420" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "46", "end_pos": "46", "site_lbl": "Pro46", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92200972", "evidence": [ { "id": "rs265535761", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs265535761" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "474", "end_pos": "474", "site_lbl": "Gln474", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92196758", "evidence": [ { "id": "rs247521494", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs247521494" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "475", "end_pos": "475", "site_lbl": "Leu475", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92196757", "evidence": [ { "id": "rs3388571307", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388571307" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "488", "end_pos": "488", "site_lbl": "Val488", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92196717", "evidence": [ { "id": "rs3388567243", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388567243" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Arg48", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92200967", "evidence": [ { "id": "rs244322535", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs244322535" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "516", "end_pos": "516", "site_lbl": "Ser516", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92196384", "evidence": [ { "id": "rs3388564505", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388564505" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "547", "end_pos": "547", "site_lbl": "Leu547", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92196292", "evidence": [ { "id": "rs3388571611", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388571611" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "567", "end_pos": "567", "site_lbl": "Thr567", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92196136", "evidence": [ { "id": "rs3388572155", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388572155" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "574", "end_pos": "574", "site_lbl": "Glu574", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92196115", "evidence": [ { "id": "rs3388574844", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388574844" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "578", "end_pos": "578", "site_lbl": "Pro578", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92196103", "evidence": [ { "id": "rs3388575604", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388575604" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "580", "end_pos": "580", "site_lbl": "Ser580", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92196097", "evidence": [ { "id": "rs13463269", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13463269" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "582", "end_pos": "582", "site_lbl": "Gln582", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92196090", "evidence": [ { "id": "rs3391898842", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391898842" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "595", "end_pos": "595", "site_lbl": "Arg595", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92196051", "evidence": [ { "id": "rs3388571664", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388571664" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "602", "end_pos": "602", "site_lbl": "Pro602", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92196030", "evidence": [ { "id": "rs3388567643", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388567643" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "611", "end_pos": "611", "site_lbl": "Lys611", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92196002", "evidence": [ { "id": "rs212388460", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs212388460" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "616", "end_pos": "616", "site_lbl": "Ile616", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92195989", "evidence": [ { "id": "rs3388574717", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388574717" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "650", "end_pos": "650", "site_lbl": "Ser650", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92195755", "evidence": [ { "id": "rs3388574724", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388574724" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "66", "end_pos": "66", "site_lbl": "Glu66", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92200913", "evidence": [ { "id": "rs222346503", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs222346503" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "676", "end_pos": "676", "site_lbl": "Ala676", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92195678", "evidence": [ { "id": "rs3388571316", "database": "dbSNP", "url": 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"batch.mouse.12" }, { "uniprot_canonical_ac": "Q8BHB0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BHB0", "url": "https://www.uniprot.org/uniprotkb/Q8BHB0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 953, "chemical_mass": 107740.0, "gene_names": "Nod1;C230079P11;Card4;F830007N14Rik;Nlrc1;Nod1;mNod1", "protein_name": "Nucleotide-binding oligomerization domain-containing protein 1", "disease": [ { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. 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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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"apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q8BHB0", "url": "https://www.uniprot.org/uniprotkb/Q8BHB0" } ], "pmid": "" }, { "name": "detection of bacterium", "id": "GO:0016045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016045", "evidence": [ { "database": "UniProtKB", "id": "Q8BHB0", "url": "https://www.uniprot.org/uniprotkb/Q8BHB0" } ], "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": "Q8BHB0", "url": "https://www.uniprot.org/uniprotkb/Q8BHB0" } ], "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": "Q8BHB0", "url": "https://www.uniprot.org/uniprotkb/Q8BHB0" } ], "pmid": "" }, { "name": "positive regulation of nitric-oxide synthase activity", "id": "GO:0051000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051000", "evidence": [ { "database": "UniProtKB", "id": "Q8BHB0", "url": "https://www.uniprot.org/uniprotkb/Q8BHB0" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "Q8BHB0", "url": "https://www.uniprot.org/uniprotkb/Q8BHB0" } ], "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": "Q8BHB0", "url": "https://www.uniprot.org/uniprotkb/Q8BHB0" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "Q8BHB0", "url": 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"database": "UniProtKB", "id": "Q8BHB0", "url": "https://www.uniprot.org/uniprotkb/Q8BHB0" } ], "pmid": "" }, { "name": "positive regulation of dendritic cell antigen processing and presentation", "id": "GO:0002606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002606", "evidence": [ { "database": "UniProtKB", "id": "Q8BHB0", "url": "https://www.uniprot.org/uniprotkb/Q8BHB0" } ], "pmid": "" }, { "name": "positive regulation of stress-activated MAPK cascade", "id": "GO:0032874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032874", "evidence": [ { "database": "UniProtKB", "id": "Q8BHB0", "url": "https://www.uniprot.org/uniprotkb/Q8BHB0" } ], "pmid": "" }, { "name": "positive regulation of xenophagy", "id": "GO:1904417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904417", "evidence": [ { "database": "UniProtKB", "id": "Q8BHB0", "url": "https://www.uniprot.org/uniprotkb/Q8BHB0" } ], "pmid": "" } ], "molecular_function": [ { "name": "peptidoglycan binding", "id": "GO:0042834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042834", "evidence": [ { "database": "UniProtKB", "id": "Q8BHB0", "url": "https://www.uniprot.org/uniprotkb/Q8BHB0" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q8BHB0", "url": "https://www.uniprot.org/uniprotkb/Q8BHB0" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8BHB0", "url": "https://www.uniprot.org/uniprotkb/Q8BHB0" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q8BHB0", "url": "https://www.uniprot.org/uniprotkb/Q8BHB0" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": 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"evidence": [ { "database": "UniProtKB", "id": "Q8BHB0", "url": "https://www.uniprot.org/uniprotkb/Q8BHB0" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q8BHB0", "url": "https://www.uniprot.org/uniprotkb/Q8BHB0" } ], "pmid": "" }, { "name": "phagocytic vesicle", "id": "GO:0045335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045335", "evidence": [ { "database": "UniProtKB", "id": "Q8BHB0", "url": "https://www.uniprot.org/uniprotkb/Q8BHB0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.12" }, { "uniprot_canonical_ac": "P15409-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P15409", "url": "https://www.uniprot.org/uniprotkb/P15409" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 348, "chemical_mass": 39070.0, "gene_names": "Rho;Noerg1;Opn2;Ops;RP4;Rho", "protein_name": "Rhodopsin", "disease": [ { "disease_id": "DOID:0110372", "name": "retinitis pigmentosa 4", "description": "A retinitis pigmentosa that has_material_basis_in mutation in the RHO gene on chromosome 3q22.", "url": "https://disease-ontology.org/term/DOID:0110372", "evidence": [ { "id": "0110372", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110372" } ], "weight": 0.0 }, { "disease_id": "DOID:0110862", "name": "congenital stationary night blindness autosomal dominant 1", "description": "A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in mutations in the RHO gene on chromosome 3q22.1.", "url": "https://disease-ontology.org/term/DOID:0110862", "evidence": [ { "id": "0110862", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110862" } ], "weight": 0.0 }, { "disease_id": "DOID:10584", "name": "retinitis pigmentosa", "description": "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.", "url": "https://disease-ontology.org/term/DOID:10584", "evidence": [ { "id": "10584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10584" } ], "weight": 0.0 }, { "disease_id": "DOID:11105", "name": "fundus albipunctatus", "description": "A fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement.", "url": "https://disease-ontology.org/term/DOID:11105", "evidence": [ { "id": "11105", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11105" } ], "weight": 0.0 }, { "disease_id": "DOID:8499", "name": "night blindness", "description": "A retinal disease that is characterized by difficulty or the inability to see in 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"A retinitis pigmentosa characterized by mild to moderate rod-cone dystrophy with onset in the second or third decade of life. Patients have constricted visual fields with macular sparing and show mildly reduced visual acuity with mild to high myopia that has_material_basis_in compound heterozygous mutation in the CC2D2A gene on chromosome 4p15.", "url": "https://disease-ontology.org/term/DOID:0061105", "evidence": [ { "id": "0061105", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061105" } ], "weight": 0.0 }, { "disease_id": "DOID:0070120", "name": "Meckel syndrome 6", "description": "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CC2D2A gene on chromosome 4p15.32.", "url": "https://disease-ontology.org/term/DOID:0070120", "evidence": [ { "id": "0070120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070120" } ], "weight": 0.0 }, { "disease_id": "DOID:0111004", "name": "Joubert syndrome 9", "description": "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CC2D2A gene on chromosome 4p15.", "url": "https://disease-ontology.org/term/DOID:0111004", "evidence": [ { "id": "0111004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111004" } ], "weight": 0.0 }, { "disease_id": "DOID:1059", "name": "intellectual disability", "description": "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.", "url": "https://disease-ontology.org/term/DOID:1059", "evidence": [ { "id": "1059", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1059" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8CFW7", "url": "https://www.uniprot.org/uniprotkb/Q8CFW7" } ], "pmid": "" }, { "name": "MKS complex", "id": "GO:0036038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036038", "evidence": [ { "database": "UniProtKB", "id": "Q8CFW7", "url": "https://www.uniprot.org/uniprotkb/Q8CFW7" } ], "pmid": "" }, { "name": "ciliary transition zone", "id": "GO:0035869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035869", "evidence": [ { "database": "UniProtKB", "id": "Q8CFW7", "url": "https://www.uniprot.org/uniprotkb/Q8CFW7" } ], "pmid": "" } ], "biological_process": [ { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q8CFW7", "url": "https://www.uniprot.org/uniprotkb/Q8CFW7" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "Q8CFW7", "url": "https://www.uniprot.org/uniprotkb/Q8CFW7" } ], "pmid": "" }, { "name": "neural tube closure", "id": "GO:0001843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001843", "evidence": [ { "database": "UniProtKB", "id": "Q8CFW7", "url": "https://www.uniprot.org/uniprotkb/Q8CFW7" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q8CFW7", "url": "https://www.uniprot.org/uniprotkb/Q8CFW7" } ], "pmid": "" }, { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "Q8CFW7", "url": "https://www.uniprot.org/uniprotkb/Q8CFW7" } ], "pmid": "" }, { "name": "motile cilium assembly", "id": "GO:0044458", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044458", "evidence": [ { "database": "UniProtKB", "id": "Q8CFW7", "url": "https://www.uniprot.org/uniprotkb/Q8CFW7" } ], "pmid": "" }, { "name": "smoothened signaling pathway", "id": "GO:0007224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007224", "evidence": [ { "database": "UniProtKB", "id": "Q8CFW7", "url": "https://www.uniprot.org/uniprotkb/Q8CFW7" } ], "pmid": "" }, { "name": "non-motile cilium assembly", "id": "GO:1905515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905515", "evidence": [ { "database": "UniProtKB", "id": "Q8CFW7", "url": "https://www.uniprot.org/uniprotkb/Q8CFW7" } ], "pmid": "" }, { "name": "axoneme assembly", "id": "GO:0035082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035082", "evidence": [ { "database": "UniProtKB", "id": "Q8CFW7", "url": "https://www.uniprot.org/uniprotkb/Q8CFW7" } ], "pmid": "" }, { "name": "protein localization to ciliary transition zone", "id": "GO:1904491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904491", "evidence": [ { "database": "UniProtKB", "id": "Q8CFW7", "url": "https://www.uniprot.org/uniprotkb/Q8CFW7" } ], "pmid": "" }, { "name": "embryonic brain development", "id": "GO:1990403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990403", "evidence": [ { "database": "UniProtKB", "id": "Q8CFW7", "url": "https://www.uniprot.org/uniprotkb/Q8CFW7" } ], "pmid": "" }, { "name": "camera-type eye development", "id": "GO:0043010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "Q8CFW7", "url": "https://www.uniprot.org/uniprotkb/Q8CFW7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8CFW7-1", "start_pos": "1409", "end_pos": "1409", "site_lbl": "Thr1409", "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": 1409, "start_aa": "Thr", "end_pos": 1409, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1409", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8CFW7-1", "start_pos": "626", "end_pos": "626", "site_lbl": "Thr626", "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": 626, "start_aa": "Thr", "end_pos": 626, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr626", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8CFW7-1", "start_pos": "1227", "end_pos": "1227", "site_lbl": "Ile1227", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NII->NIT).", "chr_id": "5", "chr_pos": "43883605", "evidence": [ { "id": "rs3395135944", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395135944" } ] } ] } ], "record_id": "batch.mouse.12" }, { "uniprot_canonical_ac": "Q8CJ91-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CJ91", "url": "https://www.uniprot.org/uniprotkb/Q8CJ91" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 325, "chemical_mass": 37112.0, "gene_names": "Cd209b;1810030I22Rik;Cd209b;DC-SIGNR1;OtB7;SIGNR1;mSIGNR1", "protein_name": "CD209 antigen-like protein B", "disease": [ { "disease_id": "DOID:0050598", "name": "extrapulmonary tuberculosis", "description": "A tuberculosis that occurs at body sites other than the lung.", "url": "https://disease-ontology.org/term/DOID:0050598", "evidence": [ { "id": "0050598", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050598" } ], "weight": 0.0 }, { "disease_id": "DOID:0050827", "name": "rheumatic heart disease", "description": "A heart valve disease that is characterized by repeated inflammation with fibrinous repair caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords.", "url": "https://disease-ontology.org/term/DOID:0050827", "evidence": [ { "id": "0050827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050827" } ], "weight": 0.0 }, { "disease_id": "DOID:0080599", "name": "Coronavirus infectious disease", "description": "A viral infectious disease that has_material_basis_in Coronavirus.", "url": "https://disease-ontology.org/term/DOID:0080599", "evidence": [ { "id": "0080599", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080599" } ], "weight": 0.0 }, { "disease_id": "DOID:11650", "name": "bronchopulmonary dysplasia", "description": "A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.", "url": "https://disease-ontology.org/term/DOID:11650", "evidence": [ { "id": "11650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ], "weight": 0.0 }, { "disease_id": "DOID:12205", "name": "dengue disease", "description": "A viral infectious disease that results in infection, has_material_basis_in Dengue virus (Orthoflavivirus denguei), which are transmitted by Aedes mosquito bite. The infection has symptom fever, has symptom severe headache, has symptom severe pain behind the eyes, has symptom joint pain, has symptom muscle and bone pain, has symptom rash, and has symptom mild bleeding.", "url": "https://disease-ontology.org/term/DOID:12205", "evidence": [ { "id": "12205", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12205" } ], "weight": 0.0 }, { "disease_id": "DOID:12206", "name": "dengue hemorrhagic fever", "description": "A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus (Orthoflavivirus denguei) serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever. Four distinct Dengue virus serotypes have been identified.", "url": "https://disease-ontology.org/term/DOID:12206", "evidence": [ { "id": "12206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12206" } ], "weight": 0.0 }, { "disease_id": "DOID:13564", "name": "aspergillosis", "description": "An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system.", "url": "https://disease-ontology.org/term/DOID:13564", "evidence": [ { "id": "13564", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13564" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:635", "name": "acquired immunodeficiency syndrome", "description": "A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS.", "url": "https://disease-ontology.org/term/DOID:635", "evidence": [ { "id": "635", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:635" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "polysaccharide binding", "id": "GO:0030247", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030247", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ91", "url": "https://www.uniprot.org/uniprotkb/Q8CJ91" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ91", "url": "https://www.uniprot.org/uniprotkb/Q8CJ91" } ], "pmid": "" }, { "name": "calcium-dependent protein binding", "id": "GO:0048306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048306", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ91", "url": "https://www.uniprot.org/uniprotkb/Q8CJ91" } ], "pmid": "" }, { "name": "virus receptor activity", "id": "GO:0001618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001618", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ91", "url": "https://www.uniprot.org/uniprotkb/Q8CJ91" } ], "pmid": "" }, { "name": "D-mannose binding", "id": "GO:0005537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005537", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ91", "url": "https://www.uniprot.org/uniprotkb/Q8CJ91" } ], "pmid": "" }, { "name": "(1->3)-beta-D-glucan binding", "id": "GO:0001872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001872", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ91", "url": "https://www.uniprot.org/uniprotkb/Q8CJ91" } ], "pmid": "" }, { "name": "pattern recognition receptor activity", "id": "GO:0038187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038187", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ91", "url": "https://www.uniprot.org/uniprotkb/Q8CJ91" } ], "pmid": "" }, { "name": "cell adhesion receptor activity", "id": "GO:0004895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004895", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ91", "url": "https://www.uniprot.org/uniprotkb/Q8CJ91" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ91", "url": "https://www.uniprot.org/uniprotkb/Q8CJ91" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ91", "url": "https://www.uniprot.org/uniprotkb/Q8CJ91" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ91", "url": "https://www.uniprot.org/uniprotkb/Q8CJ91" } ], "pmid": "" } ], "biological_process": [ { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ91", "url": "https://www.uniprot.org/uniprotkb/Q8CJ91" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ91", "url": "https://www.uniprot.org/uniprotkb/Q8CJ91" } ], "pmid": "" }, { "name": "detection of bacterium", "id": "GO:0016045", "url": 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"atrophy of testis", "description": "", "url": "https://disease-ontology.org/term/DOID:11994", "evidence": [ { "id": "11994", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11994" } ], "weight": 0.0 }, { "disease_id": "DOID:13636", "name": "Fanconi anemia", "description": "A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair.", "url": "https://disease-ontology.org/term/DOID:13636", "evidence": [ { "id": "13636", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13636" } ], "weight": 0.0 }, { "disease_id": "DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus.", "url": "https://disease-ontology.org/term/DOID:1380", "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.", "url": "https://disease-ontology.org/term/DOID:1909", "evidence": [ { "id": "1909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ], "weight": 0.0 }, { "disease_id": "DOID:2154", "name": "nephroblastoma", "description": "A kidney cancer that affects the kidneys and typically occuring in children.", "url": "https://disease-ontology.org/term/DOID:2154", "evidence": [ { "id": "2154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2154" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:3347", "name": "osteosarcoma", "description": "A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus).", "url": "https://disease-ontology.org/term/DOID:3347", "evidence": [ { "id": "3347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3347" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:5223", "name": "infertility", "description": "", "url": "https://disease-ontology.org/term/DOID:5223", "evidence": [ { "id": "5223", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5223" } ], "weight": 0.0 }, { "disease_id": "DOID:5683", "name": "hereditary breast ovarian cancer syndrome", "description": "A syndrome characterized by the higher than normal tendency associated with BRCA1 and BRCA2 to develop breast and ovarian cancers in genetically related families.", "url": "https://disease-ontology.org/term/DOID:5683", "evidence": [ { "id": "5683", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5683" } ], "weight": 0.0 }, { "disease_id": "DOID:5750", "name": "endometrial serous adenocarcinoma", "description": "A uterine corpus cancer that is characterized histologically by papillae with fibrovascular cores, marked nuclear atypia, psammoma bodies and cilia.", "url": "https://disease-ontology.org/term/DOID:5750", "evidence": [ { "id": "5750", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5750" } ], "weight": 0.0 }, { "disease_id": "DOID:6039", "name": "uveal melanoma", "description": "A uveal cancer that has_material_basis_in uvea pigment cells.", "url": "https://disease-ontology.org/term/DOID:6039", "evidence": [ { "id": "6039", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6039" } ], "weight": 0.0 }, { "disease_id": "DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.", "url": "https://disease-ontology.org/term/DOID:83", "evidence": [ { "id": "83", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:83" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of DNA damage checkpoint", "id": "GO:2000001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000001", "evidence": [ { "database": "UniProtKB", "id": "P97929", "url": "https://www.uniprot.org/uniprotkb/P97929" } ], "pmid": "" }, { "name": "homologous chromosome orientation in meiotic metaphase I", "id": "GO:0031619", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031619", "evidence": [ { "database": "UniProtKB", "id": "P97929", "url": "https://www.uniprot.org/uniprotkb/P97929" } ], "pmid": "" }, { "name": "DNA recombination", "id": "GO:0006310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006310", "evidence": [ { "database": "UniProtKB", "id": "P97929", "url": "https://www.uniprot.org/uniprotkb/P97929" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "P97929", "url": "https://www.uniprot.org/uniprotkb/P97929" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "P97929", "url": "https://www.uniprot.org/uniprotkb/P97929" } ], "pmid": "" }, { "name": "response to gamma radiation", "id": "GO:0010332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010332", "evidence": [ { "database": "UniProtKB", "id": "P97929", "url": "https://www.uniprot.org/uniprotkb/P97929" } ], "pmid": "" }, { "name": "positive regulation of mitotic cell cycle", "id": "GO:0045931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045931", "evidence": [ { "database": "UniProtKB", "id": "P97929", "url": "https://www.uniprot.org/uniprotkb/P97929" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P97929", "url": "https://www.uniprot.org/uniprotkb/P97929" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "P97929", "url": "https://www.uniprot.org/uniprotkb/P97929" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "P97929", "url": "https://www.uniprot.org/uniprotkb/P97929" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "P97929", "url": "https://www.uniprot.org/uniprotkb/P97929" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator", "id": "GO:0042771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042771", "evidence": [ { "database": "UniProtKB", "id": "P97929", "url": "https://www.uniprot.org/uniprotkb/P97929" } ], "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": "P97929", "url": "https://www.uniprot.org/uniprotkb/P97929" } ], "pmid": "" }, { "name": "establishment of protein localization to telomere", "id": "GO:0070200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070200", "evidence": [ { "database": "UniProtKB", "id": "P97929", "url": "https://www.uniprot.org/uniprotkb/P97929" } ], "pmid": "" }, { "name": "double-strand break repair", "id": "GO:0006302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006302", "evidence": [ { "database": "UniProtKB", "id": "P97929", "url": "https://www.uniprot.org/uniprotkb/P97929" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage", "id": "GO:0008630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008630", "evidence": [ { "database": "UniProtKB", "id": "P97929", "url": "https://www.uniprot.org/uniprotkb/P97929" } ], "pmid": "" }, { "name": "hemopoiesis", "id": "GO:0030097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030097", "evidence": [ { "database": "UniProtKB", "id": "P97929", "url": "https://www.uniprot.org/uniprotkb/P97929" } ], "pmid": "" }, { "name": "oocyte maturation", "id": "GO:0001556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001556", "evidence": [ { "database": "UniProtKB", "id": "P97929", "url": "https://www.uniprot.org/uniprotkb/P97929" } ], "pmid": "" }, { "name": "female gonad development", "id": "GO:0008585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008585", "evidence": [ { "database": "UniProtKB", "id": "P97929", "url": "https://www.uniprot.org/uniprotkb/P97929" } ], "pmid": "" }, { "name": "double-strand break repair via homologous recombination", "id": "GO:0000724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000724", "evidence": [ { "database": "UniProtKB", "id": "P97929", "url": "https://www.uniprot.org/uniprotkb/P97929" } ], "pmid": "" }, { "name": "cellular senescence", "id": "GO:0090398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090398", "evidence": [ { "database": "UniProtKB", "id": "P97929", "url": "https://www.uniprot.org/uniprotkb/P97929" } ], "pmid": "" }, { "name": "response to X-ray", "id": "GO:0010165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010165", "evidence": [ { "database": "UniProtKB", "id": "P97929", "url": "https://www.uniprot.org/uniprotkb/P97929" } ], "pmid": "" }, { "name": "centrosome duplication", "id": "GO:0051298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051298", "evidence": [ { "database": "UniProtKB", "id": "P97929", "url": "https://www.uniprot.org/uniprotkb/P97929" } ], "pmid": "" }, { "name": "cellular response to ionizing radiation", "id": "GO:0071479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071479", "evidence": [ { "database": "UniProtKB", "id": "P97929", "url": "https://www.uniprot.org/uniprotkb/P97929" } ], "pmid": "" }, { "name": "DNA damage response, signal transduction by p53 class mediator", "id": "GO:0030330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030330", "evidence": [ { "database": "UniProtKB", "id": "P97929", "url": "https://www.uniprot.org/uniprotkb/P97929" } ], "pmid": "" }, { "name": "mammary gland development", "id": "GO:0030879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030879", "evidence": [ { "database": "UniProtKB", "id": "P97929", "url": "https://www.uniprot.org/uniprotkb/P97929" } ], "pmid": "" }, { "name": "nucleotide-excision repair", "id": "GO:0006289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006289", "evidence": [ { "database": "UniProtKB", "id": "P97929", "url": "https://www.uniprot.org/uniprotkb/P97929" } ], "pmid": "" }, { "name": "regulation of cytokinesis", "id": "GO:0032465", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032465", "evidence": [ { "database": "UniProtKB", "id": "P97929", "url": "https://www.uniprot.org/uniprotkb/P97929" } ], "pmid": "" }, { "name": "replication fork processing", "id": "GO:0031297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031297", "evidence": [ { "database": "UniProtKB", "id": "P97929", "url": "https://www.uniprot.org/uniprotkb/P97929" } ], "pmid": "" }, { "name": "male meiosis I", "id": "GO:0007141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007141", "evidence": [ { "database": "UniProtKB", "id": "P97929", "url": "https://www.uniprot.org/uniprotkb/P97929" } ], "pmid": "" }, { "name": "response to UV-C", "id": "GO:0010225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010225", "evidence": [ { "database": "UniProtKB", "id": "P97929", "url": "https://www.uniprot.org/uniprotkb/P97929" } ], "pmid": "" }, { "name": "chordate embryonic development", "id": "GO:0043009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043009", "evidence": [ { "database": "UniProtKB", "id": "P97929", "url": "https://www.uniprot.org/uniprotkb/P97929" } ], "pmid": "" }, { "name": "telomere maintenance via recombination", "id": "GO:0000722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000722", "evidence": [ { "database": "UniProtKB", "id": "P97929", "url": "https://www.uniprot.org/uniprotkb/P97929" } ], "pmid": "" }, { "name": "inner cell mass cell proliferation", "id": "GO:0001833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001833", "evidence": [ { "database": "UniProtKB", "id": "P97929", "url": "https://www.uniprot.org/uniprotkb/P97929" } ], "pmid": "" }, { "name": "negative regulation of mammary gland epithelial cell proliferation", "id": "GO:0033600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033600", "evidence": [ { "database": "UniProtKB", "id": "P97929", "url": "https://www.uniprot.org/uniprotkb/P97929" } ], "pmid": "" }, { "name": "chromosome organization", "id": "GO:0051276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051276", "evidence": [ { "database": "UniProtKB", "id": "P97929", "url": "https://www.uniprot.org/uniprotkb/P97929" } ], "pmid": "" }, { "name": "mitotic recombination-dependent replication fork processing", "id": "GO:1990426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990426", "evidence": [ { "database": "UniProtKB", "id": "P97929", "url": "https://www.uniprot.org/uniprotkb/P97929" } ], "pmid": "" } ], "molecular_function": [ { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "P97929", "url": "https://www.uniprot.org/uniprotkb/P97929" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P97929", "url": "https://www.uniprot.org/uniprotkb/P97929" } ], "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: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:2799", "name": "bronchiolitis obliterans", "description": "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults.", "url": "https://disease-ontology.org/term/DOID:2799", "evidence": [ { "id": "2799", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2799" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3744", "name": "cervical squamous cell carcinoma", "description": "A cervix carcinoma that has_material_basis_in squamous cells of the cervix.", "url": "https://disease-ontology.org/term/DOID:3744", "evidence": [ { "id": "3744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3744" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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" } 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"https://www.uniprot.org/uniprotkb/P09240" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P09240", "url": "https://www.uniprot.org/uniprotkb/P09240" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "P09240", "url": "https://www.uniprot.org/uniprotkb/P09240" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "P09240", "url": "https://www.uniprot.org/uniprotkb/P09240" } ], "pmid": "" }, { "name": "axon initial segment", "id": "GO:0043194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043194", "evidence": [ { "database": "UniProtKB", "id": "P09240", "url": "https://www.uniprot.org/uniprotkb/P09240" } ], "pmid": "" }, { "name": "axon hillock", "id": "GO:0043203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043203", "evidence": [ { "database": "UniProtKB", "id": "P09240", "url": "https://www.uniprot.org/uniprotkb/P09240" } ], "pmid": "" }, { "name": "neuronal dense core vesicle lumen", "id": "GO:0099013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099013", "evidence": [ { "database": "UniProtKB", "id": "P09240", "url": "https://www.uniprot.org/uniprotkb/P09240" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P09240", "url": "https://www.uniprot.org/uniprotkb/P09240" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of eating behavior", "id": "GO:1903999", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903999", "evidence": [ { "database": "UniProtKB", "id": "P09240", "url": "https://www.uniprot.org/uniprotkb/P09240" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "P09240", "url": "https://www.uniprot.org/uniprotkb/P09240" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "P09240", "url": "https://www.uniprot.org/uniprotkb/P09240" } ], "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": "P09240", "url": "https://www.uniprot.org/uniprotkb/P09240" } ], "pmid": "" }, { "name": "visual learning", "id": "GO:0008542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008542", "evidence": [ { "database": "UniProtKB", "id": "P09240", "url": "https://www.uniprot.org/uniprotkb/P09240" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "P09240", "url": "https://www.uniprot.org/uniprotkb/P09240" } ], "pmid": "" }, { "name": "positive regulation of glutamate secretion", "id": "GO:0014049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014049", "evidence": [ { "database": "UniProtKB", "id": "P09240", "url": "https://www.uniprot.org/uniprotkb/P09240" } ], "pmid": "" }, { "name": "eating behavior", "id": "GO:0042755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042755", "evidence": [ { "database": "UniProtKB", "id": "P09240", "url": "https://www.uniprot.org/uniprotkb/P09240" } ], "pmid": "" }, { "name": "positive regulation of protein-containing complex assembly", "id": "GO:0031334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031334", "evidence": [ { "database": "UniProtKB", "id": "P09240", "url": "https://www.uniprot.org/uniprotkb/P09240" } ], "pmid": "" }, { "name": "phospholipase C-activating G protein-coupled 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cytochrome c from mitochondria", "id": "GO:0001836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001836", "evidence": [ { "database": "UniProtKB", "id": "P09240", "url": "https://www.uniprot.org/uniprotkb/P09240" } ], "pmid": "" }, { "name": "negative regulation of appetite", "id": "GO:0032099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032099", "evidence": [ { "database": "UniProtKB", "id": "P09240", "url": "https://www.uniprot.org/uniprotkb/P09240" } ], "pmid": "" }, { "name": "apoptotic DNA fragmentation", "id": "GO:0006309", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006309", "evidence": [ { "database": "UniProtKB", "id": "P09240", "url": "https://www.uniprot.org/uniprotkb/P09240" } ], "pmid": "" }, { "name": "positive regulation of behavioral fear response", "id": "GO:2000987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000987", "evidence": [ { "database": "UniProtKB", "id": "P09240", "url": "https://www.uniprot.org/uniprotkb/P09240" } ], "pmid": "" }, { "name": "cholecystokinin signaling pathway", "id": "GO:0038188", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038188", "evidence": [ { "database": "UniProtKB", "id": "P09240", "url": "https://www.uniprot.org/uniprotkb/P09240" } ], "pmid": "" }, { "name": "negative regulation of behavioral fear response", "id": "GO:2000986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000986", "evidence": [ { "database": "UniProtKB", "id": "P09240", "url": "https://www.uniprot.org/uniprotkb/P09240" } ], "pmid": "" }, { "name": "synaptic signaling via neuropeptide", "id": "GO:0099538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099538", "evidence": [ { "database": "UniProtKB", "id": "P09240", "url": "https://www.uniprot.org/uniprotkb/P09240" } ], "pmid": "" }, { "name": "positive regulation of pancreatic amylase secretion by cholecystokinin signaling pathway", "id": "GO:1902279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902279", "evidence": [ { "database": "UniProtKB", "id": "P09240", "url": "https://www.uniprot.org/uniprotkb/P09240" } ], "pmid": "" } ], "molecular_function": [ { "name": "neuropeptide hormone activity", "id": "GO:0005184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005184", "evidence": [ { "database": "UniProtKB", "id": "P09240", "url": "https://www.uniprot.org/uniprotkb/P09240" } ], "pmid": "" }, { "name": "hormone activity", "id": "GO:0005179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005179", "evidence": [ { "database": "UniProtKB", "id": "P09240", "url": "https://www.uniprot.org/uniprotkb/P09240" } ], "pmid": "" }, { "name": "peptide hormone receptor binding", "id": "GO:0051428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051428", "evidence": [ { "database": "UniProtKB", "id": "P09240", "url": "https://www.uniprot.org/uniprotkb/P09240" } ], "pmid": "" }, { "name": "receptor ligand activity", "id": "GO:0048018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048018", "evidence": [ { "database": "UniProtKB", "id": "P09240", "url": "https://www.uniprot.org/uniprotkb/P09240" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.12" }, { "uniprot_canonical_ac": "P10146-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P10146", "url": "https://www.uniprot.org/uniprotkb/P10146" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 92, "chemical_mass": 10276.0, "gene_names": "Ccl1;Ccl1;I-309;P500;Scya1;Tca-3;Tca3", "protein_name": "C-C motif chemokine 1", "disease": [ { "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:2527", "name": "nephrosis", "description": "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation.", "url": "https://disease-ontology.org/term/DOID:2527", "evidence": [ { "id": "2527", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2527" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:399", "name": "tuberculosis", "description": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.", "url": "https://disease-ontology.org/term/DOID:399", "evidence": [ { "id": "399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:399" } ], "weight": 0.0 }, { "disease_id": "DOID:4483", "name": "rhinitis", "description": "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. 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"P10146", "url": "https://www.uniprot.org/uniprotkb/P10146" } ], "pmid": "" }, { "name": "positive regulation of cytosolic calcium ion concentration", "id": "GO:0007204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007204", "evidence": [ { "database": "UniProtKB", "id": "P10146", "url": "https://www.uniprot.org/uniprotkb/P10146" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P10146", "url": "https://www.uniprot.org/uniprotkb/P10146" } ], "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": "P10146", "url": "https://www.uniprot.org/uniprotkb/P10146" } ], "pmid": "" }, { "name": "chemokine-mediated signaling pathway", "id": "GO:0070098", "url": 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from sleep.", "url": "https://disease-ontology.org/term/DOID:0050848", "evidence": [ { "id": "0050848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050848" } ], "weight": 0.0 }, { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:0060180", "name": "colitis", "description": "An inflammatory bowel disease that involves inflammation located_in colon.", "url": "https://disease-ontology.org/term/DOID:0060180", "evidence": [ { "id": "0060180", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060180" } ], "weight": 0.0 }, { "disease_id": "DOID: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:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. 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"https://www.alliancegenome.org/disease/DOID:0080547" } ], "weight": 0.0 }, { "disease_id": "DOID:0080600", "name": "COVID-19", "description": "A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a subtype of Betacoronavirus pandemicum.", "url": "https://disease-ontology.org/term/DOID:0080600", "evidence": [ { "id": "0080600", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080600" } ], "weight": 0.0 }, { "disease_id": "DOID: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:0081120", "name": "Graves ophthalmopathy", "description": "An autoimmune disease of eyes, ear, nose and throat that is characterized by upper eyelid retraction, lid lag, swelling, redness, conjunctivitis, and bulging eyes.", "url": "https://disease-ontology.org/term/DOID:0081120", "evidence": [ { "id": "0081120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081120" } ], "weight": 0.0 }, { "disease_id": "DOID:10762", "name": "portal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:10762", "evidence": [ { "id": "10762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10871", "name": "age related macular degeneration", "description": "A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision.", "url": "https://disease-ontology.org/term/DOID:10871", "evidence": [ { "id": "10871", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10871" } ], "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:10941", "name": "intracranial aneurysm", "description": "", "url": "https://disease-ontology.org/term/DOID:10941", "evidence": [ { "id": "10941", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10941" } ], "weight": 0.0 }, { "disease_id": "DOID:10952", "name": "nephritis", "description": "A kidney disease that is characterized by an inflammation of the kidneys.", "url": "https://disease-ontology.org/term/DOID:10952", "evidence": [ { "id": "10952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10952" } ], "weight": 0.0 }, { "disease_id": "DOID:11123", "name": "IgA vasculitis", "description": "A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection.", "url": "https://disease-ontology.org/term/DOID:11123", "evidence": [ { "id": "11123", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11123" } ], "weight": 0.0 }, { "disease_id": "DOID:1115", "name": "sarcoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm.", "url": "https://disease-ontology.org/term/DOID:1115", "evidence": [ { "id": "1115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1115" } ], "weight": 0.0 }, { "disease_id": "DOID:11339", "name": "pneumocystosis", "description": "An opportunistic mycosis that is located in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has symptom nonproductive cough, has symptom shortness of breath, and has symptom fever.", "url": "https://disease-ontology.org/term/DOID:11339", "evidence": [ { "id": "11339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11339" } ], "weight": 0.0 }, { "disease_id": "DOID:11396", "name": "pulmonary edema", "description": "A respiratory failure that is characterized by the accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure.", "url": "https://disease-ontology.org/term/DOID:11396", "evidence": [ { "id": "11396", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11396" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:1168", "name": "familial hyperlipidemia", "description": "A lipid metabolism disease that is characterized by elevated levels of lipids in the blood.", "url": "https://disease-ontology.org/term/DOID:1168", "evidence": [ { "id": "1168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1168" } ], "weight": 0.0 }, { "disease_id": "DOID:11713", "name": "diabetic angiopathy", "description": "A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes.", "url": "https://disease-ontology.org/term/DOID:11713", "evidence": [ { "id": "11713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11713" } ], "weight": 0.0 }, { "disease_id": "DOID: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:12140", "name": "Chagas disease", "description": "A trypanosomiasis that is a tropical parasitic disease caused by the flagellate protozoan Trypanosoma cruzi, which is transmitted to humans and other mammals by an insect vector, the blood-sucking assassin bugs of the subfamily Triatominae (family Reduviidae), most commonly species belonging to the Triatoma, Rhodnius, and Panstrongylus genera. The symptoms include fever, fatigue, body aches, headache, rash, loss of appetite, diarrhea, vomiting, swelling of the eyelids and myocarditis.", "url": "https://disease-ontology.org/term/DOID:12140", "evidence": [ { "id": "12140", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12140" } ], "weight": 0.0 }, { "disease_id": "DOID: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:12554", "name": "hemolytic-uremic syndrome", "description": "A kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs.", "url": "https://disease-ontology.org/term/DOID:12554", "evidence": [ { "id": "12554", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12554" } ], "weight": 0.0 }, { "disease_id": "DOID: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:12932", "name": "endomyocardial fibrosis", "description": "", "url": "https://disease-ontology.org/term/DOID:12932", "evidence": [ { "id": "12932", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12932" } ], "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:13139", "name": "crescentic glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:13139", "evidence": [ { "id": "13139", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13139" } ], "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:13413", "name": "hepatic encephalopathy", "description": "A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood.", "url": "https://disease-ontology.org/term/DOID:13413", "evidence": [ { "id": "13413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13413" } ], "weight": 0.0 }, { "disease_id": "DOID:13603", "name": "obstructive jaundice", "description": "A cholestasis characterized by yellowish pigmentation of the skin and sclera due to high bilirubin levels resulting from biliary tract obstruction.", "url": "https://disease-ontology.org/term/DOID:13603", "evidence": [ { "id": "13603", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13603" } ], "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:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID:2018", "name": "hyperinsulinism", "description": "", "url": "https://disease-ontology.org/term/DOID:2018", "evidence": [ { "id": "2018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2018" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2518", "name": "orchitis", "description": "", "url": "https://disease-ontology.org/term/DOID:2518", "evidence": [ { "id": "2518", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2518" } ], "weight": 0.0 }, { "disease_id": "DOID:2799", "name": "bronchiolitis obliterans", "description": "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults.", "url": "https://disease-ontology.org/term/DOID:2799", "evidence": [ { "id": "2799", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2799" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:2945", "name": "severe acute respiratory syndrome", "description": "A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Severe acute respiratory syndrome coronavirus (SARS-CoV or SARS-CoV-1), a subtype of Betacoronavirus pandemicum, which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:2986", "name": "IgA glomerulonephritis", "description": "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.", "url": "https://disease-ontology.org/term/DOID:2986", "evidence": [ { "id": "2986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2986" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:4029", "name": "gastritis", "description": "A stomach disease that is an inflammation of the lining of the stomach.", "url": "https://disease-ontology.org/term/DOID:4029", "evidence": [ { "id": "4029", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4029" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas.", "url": "https://disease-ontology.org/term/DOID:4989", "evidence": [ { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID: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:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:557", "evidence": [ { "id": "557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:557" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:631", "name": "fibromyalgia", "description": "A syndrome that is is characterized by chronic widespread musculoskeletal pain, fatigue, sleep disturbances, cognitive dysfunction and depression.", "url": "https://disease-ontology.org/term/DOID:631", "evidence": [ { "id": "631", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:631" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", "evidence": [ { "id": "7693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:8923", "name": "skin melanoma", "description": "A skin cancer that has_material_basis_in melanocytes.", "url": "https://disease-ontology.org/term/DOID:8923", "evidence": [ { "id": "8923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8923" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9279", "name": "hyperhomocysteinemia", "description": "An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood.", "url": "https://disease-ontology.org/term/DOID:9279", "evidence": [ { "id": "9279", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9279" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9446", "name": "cholangitis", "description": "A bile duct disease that is an inflammation of the bile duct.", "url": "https://disease-ontology.org/term/DOID:9446", "evidence": [ { "id": "9446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9446" } ], "weight": 0.0 }, { "disease_id": "DOID:9477", "name": "pulmonary embolism", "description": "An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot.", "url": "https://disease-ontology.org/term/DOID:9477", "evidence": [ { "id": "9477", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9477" } ], "weight": 0.0 }, { "disease_id": "DOID: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 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angiogenesis", "id": "GO:0016525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016525", "evidence": [ { "database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "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": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "vascular endothelial growth factor receptor signaling pathway", "id": "GO:0048010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048010", "evidence": [ { "database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "animal organ regeneration", "id": "GO:0031100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031100", "evidence": [ { "database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "astrocyte cell migration", "id": "GO:0043615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043615", "evidence": [ { "database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "positive regulation of protein targeting to membrane", "id": "GO:0090314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090314", "evidence": [ { "database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell apoptotic process", "id": "GO:2000353", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000353", "evidence": [ { "database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "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": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "negative regulation of G1/S transition of mitotic cell cycle", "id": "GO:2000134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000134", "evidence": [ { "database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "cellular response to tumor necrosis factor", "id": "GO:0071356", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071356", "evidence": [ { "database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "cellular response to estradiol stimulus", "id": "GO:0071392", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071392", "evidence": [ { 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"database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "positive regulation of calcium ion import", "id": "GO:0090280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090280", "evidence": [ { "database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "glial cell migration", "id": "GO:0008347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008347", "evidence": [ { "database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "macrophage chemotaxis", "id": "GO:0048246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048246", "evidence": [ { "database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "maternal process involved in parturition", "id": "GO:0060137", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060137", "evidence": [ { "database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "positive regulation of leukocyte migration", "id": "GO:0002687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002687", "evidence": [ { "database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "positive regulation of macrophage chemotaxis", "id": "GO:0010759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010759", "evidence": [ { "database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "neutrophil chemotaxis", "id": "GO:0030593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030593", "evidence": [ { "database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "eosinophil chemotaxis", "id": "GO:0048245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048245", "evidence": [ { "database": 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"https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "negative regulation of natural killer cell chemotaxis", "id": "GO:2000502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000502", "evidence": [ { "database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "monocyte homeostasis", "id": "GO:0035702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035702", "evidence": [ { "database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "negative regulation of vascular endothelial cell proliferation", "id": "GO:1905563", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905563", "evidence": [ { "database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "positive regulation of glutamate receptor signaling pathway", "id": "GO:1900451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900451", 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The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. 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"" } ], "biological_process": [ { "name": "chemotaxis", "id": "GO:0006935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006935", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "positive regulation of cytosolic calcium ion concentration", "id": "GO:0007204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007204", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "calcium-mediated signaling", "id": "GO:0019722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019722", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "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": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "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": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "chemokine-mediated signaling pathway", "id": "GO:0070098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070098", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "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": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "regulation of sensory perception of pain", "id": "GO:0051930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051930", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "lymphocyte chemotaxis", "id": "GO:0048247", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048247", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "cytoskeleton organization", "id": "GO:0007010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "positive regulation of calcium-mediated signaling", "id": "GO:0050850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050850", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "cell chemotaxis", "id": "GO:0060326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060326", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "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": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "positive regulation of neuron apoptotic process", "id": "GO:0043525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043525", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "astrocyte cell migration", "id": "GO:0043615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043615", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "signaling", "id": "GO:0023052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023052", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "exocytosis", "id": "GO:0006887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006887", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "granulocyte chemotaxis", "id": "GO:0071621", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071621", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "positive regulation of interleukin-1 beta production", "id": "GO:0032731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032731", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "positive regulation of calcium ion transport", "id": "GO:0051928", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051928", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "monocyte chemotaxis", "id": "GO:0002548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002548", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "negative regulation of osteoclast differentiation", "id": "GO:0045671", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045671", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "regulation of programmed cell death", "id": "GO:0043067", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043067", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "T cell chemotaxis", "id": "GO:0010818", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010818", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "host-mediated suppression of viral transcription", "id": "GO:0043922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043922", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "positive regulation of natural killer cell chemotaxis", "id": "GO:2000503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000503", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "positive regulation of osteoclast differentiation", "id": "GO:0045672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045672", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "macrophage chemotaxis", "id": "GO:0048246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048246", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "cell activation", "id": "GO:0001775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001775", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "neutrophil chemotaxis", "id": "GO:0030593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030593", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "release of sequestered calcium ion into cytosol by sarcoplasmic reticulum", "id": "GO:0014808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014808", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "eosinophil chemotaxis", "id": "GO:0048245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048245", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "response to cholesterol", "id": "GO:0070723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070723", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "leukocyte chemotaxis", "id": "GO:0030595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030595", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "eosinophil degranulation", "id": "GO:0043308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043308", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.12" }, { "uniprot_canonical_ac": "P30882-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 91, "chemical_mass": 10071.0, "gene_names": "Ccl5;Ccl5;MuRantes;RANTES;SISd;Scya5;TCP228", "protein_name": "C-C motif chemokine 5", "disease": [ { "disease_id": "DOID:0050848", "name": "obstructive sleep apnea", "description": "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.", "url": "https://disease-ontology.org/term/DOID:0050848", "evidence": [ { "id": "0050848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050848" } ], "weight": 0.0 }, { "disease_id": "DOID:0060319", "name": "cardiac arrest", "description": "A congestive heart failure characterized by a 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The symptoms include fever, fatigue, body aches, headache, rash, loss of appetite, diarrhea, vomiting, swelling of the eyelids and myocarditis.", "url": "https://disease-ontology.org/term/DOID:12140", "evidence": [ { "id": "12140", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12140" } ], "weight": 0.0 }, { "disease_id": "DOID:12236", "name": "primary biliary cholangitis", "description": "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.", "url": "https://disease-ontology.org/term/DOID:12236", "evidence": [ { "id": "12236", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12236" } ], "weight": 0.0 }, { "disease_id": "DOID:12351", "name": "alcoholic hepatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:12351", "evidence": [ { "id": "12351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12351" } ], "weight": 0.0 }, { "disease_id": "DOID:12375", "name": "bronchopneumonia", "description": "A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses.", "url": "https://disease-ontology.org/term/DOID:12375", "evidence": [ { "id": "12375", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12375" } ], "weight": 0.0 }, { "disease_id": "DOID:12574", "name": "posterior uveitis", "description": "", "url": "https://disease-ontology.org/term/DOID:12574", "evidence": [ { "id": "12574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12574" } ], "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: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:13976", "name": "peptic esophagitis", "description": "", "url": "https://disease-ontology.org/term/DOID:13976", "evidence": [ { "id": "13976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13976" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID:2518", "name": "orchitis", "description": "", "url": "https://disease-ontology.org/term/DOID:2518", "evidence": [ { "id": "2518", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2518" } ], "weight": 0.0 }, { "disease_id": "DOID:2799", "name": "bronchiolitis obliterans", "description": "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults.", "url": "https://disease-ontology.org/term/DOID:2799", "evidence": [ { "id": "2799", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2799" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2988", "name": "antiphospholipid syndrome", "description": "An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin).", "url": "https://disease-ontology.org/term/DOID:2988", "evidence": [ { "id": "2988", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2988" } ], "weight": 0.0 }, { "disease_id": "DOID:3008", "name": "invasive ductal carcinoma", "description": "A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated.", "url": "https://disease-ontology.org/term/DOID:3008", "evidence": [ { "id": "3008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3008" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3753", "name": "Hermansky-Pudlak syndrome", "description": "A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin.", "url": "https://disease-ontology.org/term/DOID:3753", "evidence": [ { "id": "3753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3753" } ], "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:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas.", "url": "https://disease-ontology.org/term/DOID:4989", "evidence": [ { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID: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:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:557", "evidence": [ { "id": "557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:557" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID: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:809", "name": "cocaine abuse", "description": "A substance abuse that involves the recurring use of cocaine despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:809", "evidence": [ { "id": "809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:809" } ], "weight": 0.0 }, { "disease_id": "DOID:841", "name": "extrinsic allergic alveolitis", "description": "An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss.", "url": "https://disease-ontology.org/term/DOID:841", "evidence": [ { "id": "841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:841" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9743", "name": "diabetic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:9743", "evidence": [ { "id": "9743", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9743" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "phosphatidylinositol-4,5-bisphosphate phospholipase C activity", "id": "GO:0004435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004435", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" }, { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" }, { "name": "chemoattractant activity", "id": "GO:0042056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042056", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" }, { "name": "receptor signaling protein tyrosine kinase activator activity", "id": "GO:0030298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030298", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" }, { "name": "phospholipase activator activity", "id": "GO:0016004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016004", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" }, { "name": "CCR1 chemokine receptor binding", "id": "GO:0031726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031726", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" }, { "name": "CCR5 chemokine receptor binding", "id": "GO:0031730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031730", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" }, { "name": "chemokine receptor antagonist activity", "id": "GO:0046817", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046817", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" }, { "name": "chemokine activity", "id": "GO:0008009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008009", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" }, { "name": "chemokine receptor binding", "id": "GO:0042379", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042379", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" }, { "name": "CCR chemokine receptor binding", "id": "GO:0048020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048020", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" } ], "biological_process": [ { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" }, { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" }, { "name": "positive regulation of T cell chemotaxis", "id": "GO:0010820", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010820", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" }, { "name": "response to tumor necrosis factor", "id": "GO:0034612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034612", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" }, { "name": "positive regulation of neuron differentiation", "id": "GO:0045666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" }, { "name": "positive regulation of G protein-coupled receptor signaling pathway", "id": "GO:0045745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045745", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" }, { "name": "positive regulation of cell adhesion", "id": "GO:0045785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045785", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": 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"P84444", "url": "https://www.uniprot.org/uniprotkb/P84444" } ], "pmid": "" }, { "name": "positive regulation of macrophage chemotaxis", "id": "GO:0010759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010759", "evidence": [ { "database": "UniProtKB", "id": "P84444", "url": "https://www.uniprot.org/uniprotkb/P84444" } ], "pmid": "" }, { "name": "negative regulation of leukocyte tethering or rolling", "id": "GO:1903237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903237", "evidence": [ { "database": "UniProtKB", "id": "P84444", "url": "https://www.uniprot.org/uniprotkb/P84444" } ], "pmid": "" }, { "name": "establishment of T cell polarity", "id": "GO:0001768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001768", "evidence": [ { "database": "UniProtKB", "id": "P84444", "url": "https://www.uniprot.org/uniprotkb/P84444" } ], "pmid": "" }, { "name": "positive regulation of dendritic cell antigen processing and presentation", "id": "GO:0002606", "url": 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"database": "UniProtKB", "id": "Q60772", "url": "https://www.uniprot.org/uniprotkb/Q60772" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "Q60772", "url": "https://www.uniprot.org/uniprotkb/Q60772" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "Q60772", "url": "https://www.uniprot.org/uniprotkb/Q60772" } ], "pmid": "" }, { "name": "negative regulation of cyclin-dependent protein serine/threonine kinase activity", "id": "GO:0045736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045736", "evidence": [ { "database": "UniProtKB", "id": "Q60772", "url": "https://www.uniprot.org/uniprotkb/Q60772" } ], "pmid": "" }, { "name": "regulation of G1/S transition of mitotic cell cycle", "id": "GO:2000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000045", "evidence": [ { "database": "UniProtKB", "id": "Q60772", "url": "https://www.uniprot.org/uniprotkb/Q60772" } ], "pmid": "" }, { "name": "oligodendrocyte differentiation", "id": "GO:0048709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048709", "evidence": [ { "database": "UniProtKB", "id": "Q60772", "url": "https://www.uniprot.org/uniprotkb/Q60772" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q60772", "url": "https://www.uniprot.org/uniprotkb/Q60772" } ], "pmid": "" }, { "name": "cyclin-dependent protein serine/threonine kinase inhibitor activity", "id": "GO:0004861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004861", "evidence": [ { "database": "UniProtKB", "id": "Q60772", "url": "https://www.uniprot.org/uniprotkb/Q60772" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.12" }, { "uniprot_canonical_ac": "Q62401-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q62401", "url": "https://www.uniprot.org/uniprotkb/Q62401" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 104, "chemical_mass": 11659.0, "gene_names": "Ccl12;Ccl12;MCP-5;Mcp5;Scya12", "protein_name": "C-C motif chemokine 12", "disease": [ { "disease_id": "DOID:0050848", "name": "obstructive sleep apnea", "description": "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.", "url": "https://disease-ontology.org/term/DOID:0050848", "evidence": [ { "id": "0050848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050848" } ], "weight": 0.0 }, { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:0080547", "name": "metabolic dysfunction-associated steatohepatitis", "description": "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis.", "url": "https://disease-ontology.org/term/DOID:0080547", "evidence": [ { "id": "0080547", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080547" } ], "weight": 0.0 }, { "disease_id": "DOID:0080600", "name": "COVID-19", "description": "A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a subtype of Betacoronavirus pandemicum.", "url": "https://disease-ontology.org/term/DOID:0080600", "evidence": [ { "id": "0080600", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080600" } ], "weight": 0.0 }, { "disease_id": "DOID:0081120", "name": "Graves ophthalmopathy", "description": "An autoimmune disease of eyes, ear, nose and throat that is characterized by upper eyelid retraction, lid lag, swelling, redness, conjunctivitis, and bulging eyes.", "url": "https://disease-ontology.org/term/DOID:0081120", "evidence": [ { "id": "0081120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081120" } ], "weight": 0.0 }, { "disease_id": "DOID:10762", "name": "portal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:10762", "evidence": [ { "id": "10762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ], "weight": 0.0 }, { "disease_id": "DOID: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:10952", "name": "nephritis", "description": "A kidney disease that is characterized by an inflammation of the kidneys.", "url": "https://disease-ontology.org/term/DOID:10952", "evidence": [ { "id": "10952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10952" } ], "weight": 0.0 }, { "disease_id": "DOID:11123", "name": "IgA vasculitis", "description": "A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection.", "url": "https://disease-ontology.org/term/DOID:11123", "evidence": [ { "id": "11123", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11123" } ], "weight": 0.0 }, { "disease_id": "DOID: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": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "Q62401", "url": "https://www.uniprot.org/uniprotkb/Q62401" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q62401", "url": "https://www.uniprot.org/uniprotkb/Q62401" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q62401", "url": "https://www.uniprot.org/uniprotkb/Q62401" } ], "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": "Q62401", "url": "https://www.uniprot.org/uniprotkb/Q62401" } ], "pmid": "" }, { "name": "chemokine-mediated signaling pathway", "id": "GO:0070098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070098", "evidence": [ { "database": "UniProtKB", "id": "Q62401", "url": "https://www.uniprot.org/uniprotkb/Q62401" } ], "pmid": "" }, { "name": "monocyte chemotaxis", "id": "GO:0002548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002548", "evidence": [ { "database": "UniProtKB", "id": "Q62401", "url": "https://www.uniprot.org/uniprotkb/Q62401" } ], "pmid": "" }, { "name": "positive regulation of leukocyte migration", "id": "GO:0002687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002687", "evidence": [ { "database": "UniProtKB", "id": "Q62401", "url": "https://www.uniprot.org/uniprotkb/Q62401" } ], "pmid": "" }, { "name": "eosinophil chemotaxis", "id": "GO:0048245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048245", "evidence": [ { "database": "UniProtKB", "id": "Q62401", "url": "https://www.uniprot.org/uniprotkb/Q62401" } ], "pmid": "" }, { "name": "negative regulation of leukocyte proliferation", "id": "GO:0070664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070664", "evidence": [ { "database": "UniProtKB", "id": "Q62401", "url": "https://www.uniprot.org/uniprotkb/Q62401" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "Q62401", "url": "https://www.uniprot.org/uniprotkb/Q62401" } ], "pmid": "" }, { "name": "phospholipase activator activity", "id": "GO:0016004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016004", "evidence": [ { "database": "UniProtKB", "id": "Q62401", "url": "https://www.uniprot.org/uniprotkb/Q62401" } ], "pmid": "" }, { "name": "CCR1 chemokine receptor binding", "id": "GO:0031726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031726", "evidence": [ { "database": "UniProtKB", "id": "Q62401", "url": "https://www.uniprot.org/uniprotkb/Q62401" } ], "pmid": "" }, { "name": "chemokine activity", "id": "GO:0008009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008009", "evidence": [ { "database": "UniProtKB", "id": "Q62401", "url": "https://www.uniprot.org/uniprotkb/Q62401" } ], "pmid": "" }, { "name": "CCR chemokine receptor binding", "id": "GO:0048020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048020", "evidence": [ { "database": "UniProtKB", "id": "Q62401", "url": "https://www.uniprot.org/uniprotkb/Q62401" } ], "pmid": "" }, { "name": "CCR2 chemokine receptor binding", "id": "GO:0031727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031727", "evidence": [ { "database": "UniProtKB", "id": "Q62401", "url": "https://www.uniprot.org/uniprotkb/Q62401" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q62401", "url": "https://www.uniprot.org/uniprotkb/Q62401" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q62401", "url": "https://www.uniprot.org/uniprotkb/Q62401" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.12" }, { "uniprot_canonical_ac": "Q6IR41-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6IR41", "url": "https://www.uniprot.org/uniprotkb/Q6IR41" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 264, "chemical_mass": 29081.0, "gene_names": "C1qtnf6;2810036M19Rik;Adiq;C1qtnf6;CTRP6", "protein_name": "Complement C1q tumor necrosis factor-related protein 6", "disease": [ { "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: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 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q6IR41", "url": "https://www.uniprot.org/uniprotkb/Q6IR41" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": 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"uniprot_canonical_ac": "Q6IR41-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Thr93", "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": 93, "start_aa": "Thr", "end_pos": 93, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr93", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "batch.mouse.12" }, { "uniprot_canonical_ac": "Q7TPC1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7TPC1", "url": "https://www.uniprot.org/uniprotkb/Q7TPC1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 561, 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"uniprot_canonical_ac": "Q91V98-1", "start_pos": "741", "end_pos": "741", "site_lbl": "Gly741", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/endosialin.", "chr_id": "19", "chr_pos": "5120375", "evidence": [ { "id": "rs3389528952", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389528952" } ] } ] }, { "uniprot_canonical_ac": "Q91V98-1", "start_pos": "74", "end_pos": "74", "site_lbl": "Val74", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/endosialin.", "chr_id": "19", "chr_pos": "5118374", "evidence": [ { "id": "rs3406967408", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406967408" } ] } ] }, { "uniprot_canonical_ac": "Q91V98-1", "start_pos": "97", "end_pos": "97", "site_lbl": "Gln97", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/endosialin.", "chr_id": "19", "chr_pos": "5118443", "evidence": [ { "id": "rs257967947", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs257967947" } ] } ] } ], "record_id": "batch.mouse.12" }, { "uniprot_canonical_ac": "Q91ZW8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91ZW8", "url": "https://www.uniprot.org/uniprotkb/Q91ZW8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 237, "chemical_mass": 26925.0, "gene_names": "Cd209d;Cd209d;SIGN-R3;SIGNR3;mSIGNR3", "protein_name": "CD209 antigen-like protein D", "disease": [ { "disease_id": "DOID:0050598", "name": "extrapulmonary tuberculosis", "description": "A tuberculosis that occurs at body sites other than the lung.", "url": "https://disease-ontology.org/term/DOID:0050598", "evidence": [ { "id": "0050598", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050598" } ], "weight": 0.0 }, { "disease_id": "DOID:0050827", "name": "rheumatic heart disease", "description": "A heart valve disease that is characterized by repeated inflammation with fibrinous repair caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords.", "url": "https://disease-ontology.org/term/DOID:0050827", "evidence": [ { "id": "0050827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050827" } ], "weight": 0.0 }, { "disease_id": "DOID:0080599", "name": "Coronavirus infectious disease", "description": "A viral infectious disease that has_material_basis_in Coronavirus.", "url": "https://disease-ontology.org/term/DOID:0080599", "evidence": [ { "id": "0080599", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080599" } ], "weight": 0.0 }, { "disease_id": "DOID:11650", "name": "bronchopulmonary dysplasia", "description": "A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.", "url": "https://disease-ontology.org/term/DOID:11650", "evidence": [ { "id": "11650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ], "weight": 0.0 }, { "disease_id": "DOID:12205", "name": "dengue disease", "description": "A viral infectious disease that results in infection, has_material_basis_in Dengue virus (Orthoflavivirus denguei), which are transmitted by Aedes mosquito bite. The infection has symptom fever, has symptom severe headache, has symptom severe pain behind the eyes, has symptom joint pain, has symptom muscle and bone pain, has symptom rash, and has symptom mild bleeding.", "url": "https://disease-ontology.org/term/DOID:12205", "evidence": [ { "id": "12205", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12205" } ], "weight": 0.0 }, { "disease_id": "DOID:12206", "name": "dengue hemorrhagic fever", "description": "A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus (Orthoflavivirus denguei) serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever. Four distinct Dengue virus serotypes have been identified.", "url": "https://disease-ontology.org/term/DOID:12206", "evidence": [ { "id": "12206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12206" } ], "weight": 0.0 }, { "disease_id": "DOID:13564", "name": "aspergillosis", "description": "An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system.", "url": "https://disease-ontology.org/term/DOID:13564", "evidence": [ { "id": "13564", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13564" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:635", "name": "acquired immunodeficiency syndrome", "description": "A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS.", "url": "https://disease-ontology.org/term/DOID:635", "evidence": [ { "id": "635", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:635" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW8", "url": "https://www.uniprot.org/uniprotkb/Q91ZW8" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW8", "url": "https://www.uniprot.org/uniprotkb/Q91ZW8" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW8", "url": "https://www.uniprot.org/uniprotkb/Q91ZW8" } ], "pmid": "" } ], "biological_process": [ { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW8", "url": "https://www.uniprot.org/uniprotkb/Q91ZW8" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW8", "url": "https://www.uniprot.org/uniprotkb/Q91ZW8" } ], "pmid": "" }, { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW8", "url": "https://www.uniprot.org/uniprotkb/Q91ZW8" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW8", "url": "https://www.uniprot.org/uniprotkb/Q91ZW8" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW8", "url": "https://www.uniprot.org/uniprotkb/Q91ZW8" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW8", "url": "https://www.uniprot.org/uniprotkb/Q91ZW8" } ], "pmid": "" }, { "name": "calcium-dependent protein binding", "id": "GO:0048306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048306", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW8", "url": "https://www.uniprot.org/uniprotkb/Q91ZW8" } ], "pmid": "" }, { "name": "virus receptor activity", "id": "GO:0001618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001618", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW8", "url": "https://www.uniprot.org/uniprotkb/Q91ZW8" } ], "pmid": "" }, { "name": "D-mannose binding", "id": "GO:0005537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005537", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW8", "url": "https://www.uniprot.org/uniprotkb/Q91ZW8" } ], "pmid": "" }, { "name": "pattern recognition receptor activity", "id": "GO:0038187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038187", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW8", "url": "https://www.uniprot.org/uniprotkb/Q91ZW8" } ], "pmid": "" }, { "name": "cell adhesion receptor activity", "id": "GO:0004895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004895", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW8", "url": "https://www.uniprot.org/uniprotkb/Q91ZW8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91ZW8-1", "start_pos": "114", "end_pos": "114", "site_lbl": "Asn114", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "evidence": [ { "id": "Q91ZW8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q91ZW8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q91ZW8-1", "start_pos": "129", "end_pos": "129", "site_lbl": "Asn129", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], 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"snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/type 2 receptor.", "chr_id": "8", "chr_pos": "3926369", "evidence": [ { "id": "rs3388945089", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388945089" } ] } ] }, { "uniprot_canonical_ac": "Q91ZW8-1", "start_pos": "113", "end_pos": "113", "site_lbl": "Phe113", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/type 2 receptor.", "chr_id": "8", "chr_pos": "3926365", "evidence": [ { "id": "rs3388964173", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388964173" } ] } ] }, { "uniprot_canonical_ac": "Q91ZW8-1", "start_pos": "16", "end_pos": "16", "site_lbl": "Glu16", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline 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"https://www.uniprot.org/uniprotkb/P13379" }, { "database": "PubMed", "id": "11157848", "url": "https://glygen.org/publication/PubMed/11157848" } ] } ] } ], "record_id": "batch.mouse.12" }, { "uniprot_canonical_ac": "P14097-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P14097", "url": "https://www.uniprot.org/uniprotkb/P14097" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 92, "chemical_mass": 10168.0, "gene_names": "Ccl4;AT744.1;Act-2;Ccl4;MIP-1B;Mip1b;Scya4", "protein_name": "C-C motif chemokine 4", "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:0080600", "name": "COVID-19", "description": "A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a subtype of Betacoronavirus pandemicum.", "url": "https://disease-ontology.org/term/DOID:0080600", "evidence": [ { "id": "0080600", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080600" } ], "weight": 0.0 }, { "disease_id": "DOID: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:10533", "name": "viral pneumonia", "description": "A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus.", "url": "https://disease-ontology.org/term/DOID:10533", "evidence": [ { "id": "10533", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10533" } ], "weight": 0.0 }, { "disease_id": "DOID:10690", "name": "mastitis", "description": "A breast disease characterized by painful infection of the breast tissue.", "url": "https://disease-ontology.org/term/DOID:10690", "evidence": [ { "id": "10690", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10690" } ], "weight": 0.0 }, { "disease_id": "DOID:12120", "name": "pulmonary alveolar proteinosis", "description": "A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange.", "url": "https://disease-ontology.org/term/DOID:12120", "evidence": [ { "id": "12120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12120" } ], "weight": 0.0 }, { "disease_id": "DOID:14067", "name": "Plasmodium falciparum malaria", "description": "A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever.", "url": "https://disease-ontology.org/term/DOID:14067", "evidence": [ { "id": "14067", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14067" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:417", "name": "autoimmune disease", "description": "An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues.", "url": "https://disease-ontology.org/term/DOID:417", "evidence": [ { "id": "417", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:417" } ], "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: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: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:635", "name": "acquired immunodeficiency syndrome", "description": "A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS.", "url": "https://disease-ontology.org/term/DOID:635", "evidence": [ { "id": "635", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:635" } ], "weight": 0.0 }, { "disease_id": "DOID:813", "name": "septic arthritis", "description": "An arthritis that involves infection by a pathogen located_in joint.", "url": "https://disease-ontology.org/term/DOID:813", "evidence": [ { "id": "813", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:813" } ], "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:9146", "name": "visceral leishmaniasis", "description": "A leishmaniasis that is the most severe form of the disease caused by protozoan parasites of the Leishmania genus, resulting in the infection of the internal organs such as liver, spleen and bone marrow. The symptoms include fever, weight loss, and an enlarged spleen and liver.", "url": "https://disease-ontology.org/term/DOID:9146", "evidence": [ { "id": "9146", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9146" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P14097", "url": "https://www.uniprot.org/uniprotkb/P14097" } ], "pmid": "" } ], "biological_process": [ { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P14097", "url": "https://www.uniprot.org/uniprotkb/P14097" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P14097", "url": "https://www.uniprot.org/uniprotkb/P14097" } ], "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": "P14097", "url": "https://www.uniprot.org/uniprotkb/P14097" } ], "pmid": "" }, { "name": "chemokine-mediated signaling pathway", "id": "GO:0070098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070098", "evidence": [ { "database": "UniProtKB", "id": "P14097", "url": "https://www.uniprot.org/uniprotkb/P14097" } ], "pmid": "" }, { "name": "cellular response to xenobiotic stimulus", "id": "GO:0071466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071466", "evidence": [ { "database": "UniProtKB", "id": "P14097", "url": "https://www.uniprot.org/uniprotkb/P14097" } ], "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": "P14097", "url": "https://www.uniprot.org/uniprotkb/P14097" } ], "pmid": "" }, { "name": "positive regulation of vascular permeability", "id": "GO:0043117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043117", "evidence": [ { "database": "UniProtKB", "id": "P14097", "url": "https://www.uniprot.org/uniprotkb/P14097" } ], "pmid": "" }, { "name": "eosinophil chemotaxis", "id": "GO:0048245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048245", "evidence": [ { "database": "UniProtKB", "id": "P14097", "url": "https://www.uniprot.org/uniprotkb/P14097" } ], "pmid": "" }, { "name": "leukocyte chemotaxis", "id": "GO:0030595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030595", "evidence": [ { "database": "UniProtKB", "id": "P14097", "url": "https://www.uniprot.org/uniprotkb/P14097" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P14097", "url": "https://www.uniprot.org/uniprotkb/P14097" } ], "pmid": "" }, { "name": "CCR1 chemokine receptor binding", "id": "GO:0031726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031726", "evidence": [ { "database": "UniProtKB", "id": "P14097", "url": "https://www.uniprot.org/uniprotkb/P14097" } ], "pmid": "" }, { "name": "CCR5 chemokine receptor binding", "id": "GO:0031730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031730", "evidence": [ { "database": "UniProtKB", "id": "P14097", "url": "https://www.uniprot.org/uniprotkb/P14097" } ], "pmid": "" }, { "name": "chemokine activity", "id": "GO:0008009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008009", "evidence": [ { "database": "UniProtKB", "id": "P14097", "url": "https://www.uniprot.org/uniprotkb/P14097" } ], "pmid": "" }, { "name": "CCR chemokine receptor binding", "id": "GO:0048020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048020", "evidence": [ { "database": "UniProtKB", "id": "P14097", "url": "https://www.uniprot.org/uniprotkb/P14097" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.12" }, { "uniprot_canonical_ac": "P55271-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P55271", "url": "https://www.uniprot.org/uniprotkb/P55271" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 130, "chemical_mass": 13789.0, "gene_names": "Cdkn2b;Cdkn2b;INK4b;MTS2;p15(INK4b);p15INK4b;p15", "protein_name": "Cyclin-dependent kinase 4 inhibitor B", "disease": [ { "disease_id": "DOID:0050908", "name": "myelodysplastic syndrome", "description": "A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets.", "url": "https://disease-ontology.org/term/DOID:0050908", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ], "weight": 0.0 }, { "disease_id": "DOID:0060061", "name": "primary cutaneous T-cell non-Hodgkin lymphoma", "description": "A peripheral T-cell lymphoma that has_material_basis_in a mutation of T cells.", "url": "https://disease-ontology.org/term/DOID:0060061", "evidence": [ { "id": "0060061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060061" } ], "weight": 0.0 }, { "disease_id": "DOID:0060318", "name": "acute promyelocytic leukemia", "description": "An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17.", "url": "https://disease-ontology.org/term/DOID:0060318", "evidence": [ { "id": "0060318", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060318" } ], "weight": 0.0 }, { "disease_id": "DOID:0080188", "name": "chronic myelomonocytic leukemia", "description": "A chronic leukemia characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood.", "url": "https://disease-ontology.org/term/DOID:0080188", "evidence": [ { "id": "0080188", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080188" } ], "weight": 0.0 }, { "disease_id": "DOID:0080630", "name": "B-lymphoblastic leukemia/lymphoma", "description": "A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow.", "url": "https://disease-ontology.org/term/DOID:0080630", "evidence": [ { "id": "0080630", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080630" } ], "weight": 0.0 }, { "disease_id": "DOID:0111511", "name": "melanoma and neural system tumor syndrome", "description": "A syndrome characterized by predisposition to cutaneous melanoma and neural tumor (typically astrocytomas) development that has_material_basis_in heterozygous mutation in the CDKN2A gene on chromosome 9p21.3.", "url": "https://disease-ontology.org/term/DOID:0111511", "evidence": [ { "id": "0111511", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111511" } ], "weight": 0.0 }, { "disease_id": "DOID:10041", "name": "dysplastic nevus syndrome", "description": "A syndrome that is characterized by the presence of multiple dysplastic nevi (atypical moles) and a history of melanoma in two family members.", "url": "https://disease-ontology.org/term/DOID:10041", "evidence": [ { "id": "10041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10041" } ], "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:1067", "name": "open-angle glaucoma", "description": "A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage.", "url": "https://disease-ontology.org/term/DOID:1067", "evidence": [ { "id": "1067", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1067" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:11166", "name": "Human papillomavirus infectious disease", "description": "A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact.", "url": "https://disease-ontology.org/term/DOID:11166", "evidence": [ { "id": "11166", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11166" } ], "weight": 0.0 }, { "disease_id": "DOID:1240", "name": "leukemia", "description": "A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.", "url": "https://disease-ontology.org/term/DOID:1240", "evidence": [ { "id": "1240", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1240" } ], "weight": 0.0 }, { "disease_id": "DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus.", "url": "https://disease-ontology.org/term/DOID:1380", "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1749", "name": "squamous cell carcinoma", "description": "A carcinoma that derives_from squamous epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1749", "evidence": [ { "id": "1749", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1749" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.", "url": "https://disease-ontology.org/term/DOID:1909", "evidence": [ { "id": "1909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ], "weight": 0.0 }, { "disease_id": "DOID:1967", "name": "leiomyosarcoma", "description": "A smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis.", "url": "https://disease-ontology.org/term/DOID:1967", "evidence": [ { "id": "1967", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1967" } ], "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: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:2999", "name": "granulosa cell tumor", "description": "A sex cord-gonadal stromal tumor that has_material_basis_in granulosa cells and arises from the sex cord stroma.", "url": "https://disease-ontology.org/term/DOID:2999", "evidence": [ { "id": "2999", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2999" } ], "weight": 0.0 }, { "disease_id": "DOID:3008", "name": "invasive ductal carcinoma", "description": "A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated.", "url": "https://disease-ontology.org/term/DOID:3008", "evidence": [ { "id": "3008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3008" } ], "weight": 0.0 }, { "disease_id": "DOID:3068", "name": "glioblastoma", "description": "A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.", "url": "https://disease-ontology.org/term/DOID:3068", "evidence": [ { "id": "3068", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3068" } ], "weight": 0.0 }, { "disease_id": "DOID:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:3192", "name": "neurilemmoma", "description": "A neuroma that is characterized as a benign nerve sheath tumor that is composed of Schwann cells.", "url": "https://disease-ontology.org/term/DOID:3192", "evidence": [ { "id": "3192", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3192" } ], "weight": 0.0 }, { "disease_id": "DOID:3304", "name": "germinoma", "description": "A germ cell cancer that lacks histologic differentiation. It usually refers to a tumor in the brain.", "url": "https://disease-ontology.org/term/DOID:3304", "evidence": [ { "id": "3304", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3304" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:4074", "name": "pancreatic adenocarcinoma", "description": "A pancreatic carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4074", "evidence": [ { "id": "4074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4074" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4905", "name": "pancreatic carcinoma", "description": "A pancreas cancer that derives_from epithelial cells located_in the exocrine pancreas.", "url": "https://disease-ontology.org/term/DOID:4905", "evidence": [ { "id": "4905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4905" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5520", "name": "head and neck squamous cell carcinoma", "description": "A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck.", "url": "https://disease-ontology.org/term/DOID:5520", "evidence": [ { "id": "5520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5520" } ], "weight": 0.0 }, { "disease_id": "DOID:5603", "name": "T-cell acute lymphoblastic leukemia", "description": "An acute lymphoblastic leukemia that is characterized by too many T-cell lymphoblasts found in the bone marrow and blood.", "url": "https://disease-ontology.org/term/DOID:5603", "evidence": [ { "id": "5603", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5603" } ], "weight": 0.0 }, { "disease_id": "DOID:6171", "name": "uterine carcinosarcoma", "description": "A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma.", "url": "https://disease-ontology.org/term/DOID:6171", "evidence": [ { "id": "6171", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6171" } ], "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:6846", "name": "familial melanoma", "description": "", "url": "https://disease-ontology.org/term/DOID:6846", "evidence": [ { "id": "6846", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6846" } ], "weight": 0.0 }, { "disease_id": "DOID:769", "name": "neuroblastoma", "description": "An autonomic nervous system neoplasm that derives_from immature nerve cells.", "url": "https://disease-ontology.org/term/DOID:769", "evidence": [ { "id": "769", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:769" } ], "weight": 0.0 }, { "disease_id": "DOID:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells.", "url": "https://disease-ontology.org/term/DOID:8552", "evidence": [ { "id": "8552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8552" } ], "weight": 0.0 }, { "disease_id": "DOID:8719", "name": "in situ carcinoma", "description": "A carcinoma that is an early development defined by the absence of invasion of surrounding tissues.", "url": "https://disease-ontology.org/term/DOID:8719", "evidence": [ { "id": "8719", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8719" } ], "weight": 0.0 }, { "disease_id": "DOID:8743", "name": "erythema infectiosum", "description": "A viral exanthem that has_material_basis_in Human parvovirus B19 (Erythroparvovirus primate1).", "url": "https://disease-ontology.org/term/DOID:8743", "evidence": [ { "id": "8743", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8743" } ], "weight": 0.0 }, { "disease_id": "DOID:8923", "name": "skin melanoma", "description": "A skin cancer that has_material_basis_in melanocytes.", "url": "https://disease-ontology.org/term/DOID:8923", "evidence": [ { "id": "8923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8923" } ], "weight": 0.0 }, { "disease_id": "DOID:8991", "name": "cervix uteri carcinoma in situ", "description": "An uterus carcinoma in situ that is located_in the uterine cervix.", "url": "https://disease-ontology.org/term/DOID:8991", "evidence": [ { "id": "8991", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8991" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 } ], "biological_process": [ { "name": "megakaryocyte differentiation", "id": "GO:0030219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030219", "evidence": [ { "database": "UniProtKB", "id": "P55271", "url": "https://www.uniprot.org/uniprotkb/P55271" } ], "pmid": "" }, { "name": "cellular response to nutrient", "id": "GO:0031670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031670", "evidence": [ { "database": "UniProtKB", "id": "P55271", "url": "https://www.uniprot.org/uniprotkb/P55271" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", 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"https://www.uniprot.org/uniprotkb/Q61092" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q61092", "url": "https://www.uniprot.org/uniprotkb/Q61092" } ], "pmid": "" }, { "name": "basement membrane", "id": "GO:0005604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005604", "evidence": [ { "database": "UniProtKB", "id": "Q61092", "url": "https://www.uniprot.org/uniprotkb/Q61092" } ], "pmid": "" }, { "name": "laminin-2 complex", "id": "GO:0005607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005607", "evidence": [ { "database": "UniProtKB", "id": "Q61092", "url": "https://www.uniprot.org/uniprotkb/Q61092" } ], "pmid": "" }, { "name": "laminin-5 complex", "id": "GO:0005610", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005610", "evidence": [ { "database": "UniProtKB", "id": "Q61092", "url": "https://www.uniprot.org/uniprotkb/Q61092" } ], "pmid": "" }, { "name": "laminin-5B complex", "id": "GO:0061801", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061801", "evidence": [ { "database": "UniProtKB", "id": "Q61092", "url": "https://www.uniprot.org/uniprotkb/Q61092" } ], "pmid": "" }, { "name": "laminin-522 complex", "id": "GO:1990339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990339", "evidence": [ { "database": "UniProtKB", "id": "Q61092", "url": "https://www.uniprot.org/uniprotkb/Q61092" } ], "pmid": "" } ], "biological_process": [ { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q61092", "url": "https://www.uniprot.org/uniprotkb/Q61092" } ], "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": "Q61092", "url": "https://www.uniprot.org/uniprotkb/Q61092" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q61092", "url": "https://www.uniprot.org/uniprotkb/Q61092" } ], "pmid": "" }, { "name": "animal organ morphogenesis", "id": "GO:0009887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", "evidence": [ { "database": "UniProtKB", "id": "Q61092", "url": "https://www.uniprot.org/uniprotkb/Q61092" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "Q61092", "url": "https://www.uniprot.org/uniprotkb/Q61092" } ], "pmid": "" }, { "name": "tissue development", "id": "GO:0009888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009888", "evidence": [ { "database": "UniProtKB", "id": "Q61092", "url": "https://www.uniprot.org/uniprotkb/Q61092" } ], "pmid": "" } ], "molecular_function": [ { "name": 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"site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (Xyl...) 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"DOID:11963", "name": "esophagitis", "description": "", "url": "https://disease-ontology.org/term/DOID:11963", "evidence": [ { "id": "11963", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11963" } ], "weight": 0.0 }, { "disease_id": "DOID: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:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:2671", "name": "transitional cell carcinoma", "description": "A carcinoma that derives_from 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"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:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3907", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell.", "url": "https://disease-ontology.org/term/DOID:3907", "evidence": [ { "id": "3907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3907" } ], "weight": 0.0 }, { 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"pmid": "" } ], "biological_process": [ { "name": "positive regulation of glial cell proliferation", "id": "GO:0060252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060252", "evidence": [ { "database": "UniProtKB", "id": "Q9Z127", "url": "https://www.uniprot.org/uniprotkb/Q9Z127" } ], "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": "Q9Z127", "url": "https://www.uniprot.org/uniprotkb/Q9Z127" } ], "pmid": "" }, { "name": "L-leucine transport", "id": "GO:0015820", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015820", "evidence": [ { "database": "UniProtKB", "id": "Q9Z127", "url": "https://www.uniprot.org/uniprotkb/Q9Z127" } ], "pmid": "" }, { "name": "proline transport", "id": "GO:0015824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015824", "evidence": [ { "database": "UniProtKB", "id": "Q9Z127", "url": "https://www.uniprot.org/uniprotkb/Q9Z127" } ], "pmid": "" }, { "name": "alanine transport", "id": "GO:0032328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032328", "evidence": [ { "database": "UniProtKB", "id": "Q9Z127", "url": "https://www.uniprot.org/uniprotkb/Q9Z127" } ], "pmid": "" }, { "name": "L-tryptophan transmembrane transport", "id": "GO:1904556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904556", "evidence": [ { "database": "UniProtKB", "id": "Q9Z127", "url": "https://www.uniprot.org/uniprotkb/Q9Z127" } ], "pmid": "" }, { "name": "L-leucine import across plasma membrane", "id": "GO:1903801", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903801", "evidence": [ { "database": "UniProtKB", "id": "Q9Z127", "url": "https://www.uniprot.org/uniprotkb/Q9Z127" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q9Z127", "url": "https://www.uniprot.org/uniprotkb/Q9Z127" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "Q9Z127", "url": "https://www.uniprot.org/uniprotkb/Q9Z127" } ], "pmid": "" }, { "name": "negative regulation of autophagy", "id": "GO:0010507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010507", "evidence": [ { "database": "UniProtKB", "id": "Q9Z127", "url": "https://www.uniprot.org/uniprotkb/Q9Z127" } ], "pmid": "" }, { "name": "neutral amino acid transport", "id": "GO:0015804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015804", "evidence": [ { "database": "UniProtKB", "id": "Q9Z127", "url": "https://www.uniprot.org/uniprotkb/Q9Z127" } ], "pmid": "" }, { "name": "cellular response to glucose starvation", "id": "GO:0042149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042149", "evidence": [ { "database": "UniProtKB", "id": "Q9Z127", "url": "https://www.uniprot.org/uniprotkb/Q9Z127" } ], "pmid": "" }, { "name": "tryptophan transport", "id": "GO:0015827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015827", "evidence": [ { "database": "UniProtKB", "id": "Q9Z127", "url": "https://www.uniprot.org/uniprotkb/Q9Z127" } ], "pmid": "" }, { "name": "response to muscle activity", "id": "GO:0014850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014850", "evidence": [ { "database": "UniProtKB", "id": "Q9Z127", "url": "https://www.uniprot.org/uniprotkb/Q9Z127" } ], "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": "Q9Z127", "url": "https://www.uniprot.org/uniprotkb/Q9Z127" } ], "pmid": "" }, { "name": "liver regeneration", "id": "GO:0097421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097421", "evidence": [ { "database": "UniProtKB", "id": "Q9Z127", "url": 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], "pmid": "" }, { "name": "adult walking behavior", "id": "GO:0007628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007628", "evidence": [ { "database": "UniProtKB", "id": "O35604", "url": "https://www.uniprot.org/uniprotkb/O35604" } ], "pmid": "" }, { "name": "sterol metabolic process", "id": "GO:0016125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016125", "evidence": [ { "database": "UniProtKB", "id": "O35604", "url": "https://www.uniprot.org/uniprotkb/O35604" } ], "pmid": "" }, { "name": "symbiont entry into host cell", "id": "GO:0046718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046718", "evidence": [ { "database": "UniProtKB", "id": "O35604", "url": "https://www.uniprot.org/uniprotkb/O35604" } ], "pmid": "" }, { "name": "bile acid metabolic process", "id": "GO:0008206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008206", "evidence": [ { "database": "UniProtKB", "id": "O35604", "url": "https://www.uniprot.org/uniprotkb/O35604" } ], "pmid": "" }, { "name": 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"id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "O35604", "url": "https://www.uniprot.org/uniprotkb/O35604" } ], "pmid": "" }, { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "O35604", "url": "https://www.uniprot.org/uniprotkb/O35604" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "O35604", "url": "https://www.uniprot.org/uniprotkb/O35604" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "O35604", "url": "https://www.uniprot.org/uniprotkb/O35604" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "O35604", "url": "https://www.uniprot.org/uniprotkb/O35604" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O35604", "url": "https://www.uniprot.org/uniprotkb/O35604" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O35604", "url": "https://www.uniprot.org/uniprotkb/O35604" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "O35604", "url": "https://www.uniprot.org/uniprotkb/O35604" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "O35604", "url": 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environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:5154", "name": "borna disease", "description": "A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus (Orthobornavirus bornaense), which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment.", "url": "https://disease-ontology.org/term/DOID:5154", "evidence": [ { "id": "5154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5154" } ], "weight": 0.0 }, { "disease_id": "DOID:6419", "name": "tetralogy of Fallot", "description": "", "url": "https://disease-ontology.org/term/DOID:6419", "evidence": [ { "id": "6419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6419" } ], "weight": 0.0 } ], "biological_process": [ { "name": "enteric nervous system development", "id": "GO:0048484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048484", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "positive regulation of glial cell differentiation", "id": "GO:0045687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045687", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "mechanoreceptor differentiation", "id": "GO:0042490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042490", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "cell surface receptor protein tyrosine kinase signaling pathway", "id": "GO:0007169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007169", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "neuromuscular synaptic transmission", "id": "GO:0007274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007274", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "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": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "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": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "epidermis development", "id": "GO:0008544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008544", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "myelination", "id": "GO:0042552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042552", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "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": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "peripheral nervous system development", "id": "GO:0007422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007422", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "smooth muscle cell differentiation", "id": "GO:0051145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051145", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "positive regulation of receptor internalization", "id": "GO:0002092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002092", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "regulation of neuron apoptotic process", "id": "GO:0043523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043523", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "nerve development", "id": "GO:0021675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021675", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "neuron development", "id": "GO:0048666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048666", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "induction of positive chemotaxis", "id": "GO:0050930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050930", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "generation of neurons", "id": "GO:0048699", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048699", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "glial cell fate determination", "id": "GO:0007403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007403", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "nerve growth factor signaling pathway", "id": "GO:0038180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038180", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" } ], "molecular_function": [ { "name": "nerve growth factor binding", "id": "GO:0048406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048406", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "chemoattractant activity", "id": "GO:0042056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042056", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "growth factor activity", "id": "GO:0008083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008083", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "nerve growth factor receptor binding", "id": "GO:0005163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005163", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "neurotrophin p75 receptor binding", "id": "GO:0005166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005166", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "endoplasmic reticulum lumen", "id": "GO:0005788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005788", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P20181-1", "start_pos": "131", "end_pos": "131", "site_lbl": "Asn131", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 131, "start_aa": "Asn", "end_pos": 131, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn131", "evidence": [ { "id": "P20181", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P20181#ptm_processing" } ] } ] } ], "record_id": "batch.mouse.12" }, { "uniprot_canonical_ac": "P42586-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P42586", "url": "https://www.uniprot.org/uniprotkb/P42586" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 273, "chemical_mass": 30126.0, "gene_names": "Nkx2-2;Nkx-2.2;Nkx2-2;Nkx2.2;Nkx2b;tinman", "protein_name": "Homeobox protein Nkx-2.2", "disease": [ { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:3213", "name": "demyelinating disease", "description": "A central nervous system disease that is characterized by damage to the myelin sheath present around nerve axons.", "url": "https://disease-ontology.org/term/DOID:3213", "evidence": [ { "id": "3213", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3213" } ], "weight": 0.0 } ], "biological_process": [ { "name": "astrocyte differentiation", "id": "GO:0048708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048708", "evidence": [ { "database": "UniProtKB", "id": "P42586", "url": "https://www.uniprot.org/uniprotkb/P42586" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P42586", "url": "https://www.uniprot.org/uniprotkb/P42586" } ], "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": "P42586", "url": "https://www.uniprot.org/uniprotkb/P42586" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "P42586", "url": "https://www.uniprot.org/uniprotkb/P42586" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P42586", "url": "https://www.uniprot.org/uniprotkb/P42586" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P42586", "url": "https://www.uniprot.org/uniprotkb/P42586" } ], "pmid": "" }, { "name": "negative regulation of neuron differentiation", "id": "GO:0045665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045665", "evidence": [ { "database": "UniProtKB", "id": "P42586", "url": "https://www.uniprot.org/uniprotkb/P42586" } ], "pmid": "" }, { "name": "positive regulation of neuron differentiation", "id": "GO:0045666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666", "evidence": [ { "database": "UniProtKB", "id": "P42586", "url": "https://www.uniprot.org/uniprotkb/P42586" } ], "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": "P42586", "url": "https://www.uniprot.org/uniprotkb/P42586" } ], "pmid": "" }, { "name": "positive regulation of oligodendrocyte differentiation", "id": "GO:0048714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048714", "evidence": [ { "database": "UniProtKB", "id": "P42586", "url": "https://www.uniprot.org/uniprotkb/P42586" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P42586", "url": "https://www.uniprot.org/uniprotkb/P42586" } ], "pmid": "" }, { "name": "response to progesterone", "id": "GO:0032570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032570", "evidence": [ { "database": "UniProtKB", "id": "P42586", "url": "https://www.uniprot.org/uniprotkb/P42586" } ], "pmid": "" }, { "name": "positive regulation of cell differentiation", "id": "GO:0045597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045597", "evidence": [ { "database": "UniProtKB", "id": "P42586", "url": "https://www.uniprot.org/uniprotkb/P42586" } ], "pmid": "" }, { "name": "spinal cord motor neuron differentiation", "id": "GO:0021522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021522", "evidence": [ { "database": "UniProtKB", "id": "P42586", "url": "https://www.uniprot.org/uniprotkb/P42586" } ], "pmid": "" }, { "name": "response to glucose", "id": "GO:0009749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009749", "evidence": [ { "database": "UniProtKB", "id": "P42586", "url": "https://www.uniprot.org/uniprotkb/P42586" } ], "pmid": "" }, { "name": "digestive tract development", "id": "GO:0048565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048565", "evidence": [ { "database": "UniProtKB", "id": "P42586", "url": "https://www.uniprot.org/uniprotkb/P42586" } ], "pmid": "" }, { "name": "endocrine pancreas development", "id": "GO:0031018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031018", "evidence": [ { "database": "UniProtKB", "id": "P42586", "url": "https://www.uniprot.org/uniprotkb/P42586" } ], "pmid": "" }, { "name": "smoothened signaling pathway", "id": "GO:0007224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007224", "evidence": [ { "database": "UniProtKB", "id": "P42586", 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"drinking behavior", "id": "GO:0042756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042756", "evidence": [ { "database": "UniProtKB", "id": "O55241", "url": "https://www.uniprot.org/uniprotkb/O55241" } ], "pmid": "" }, { "name": "sleep", "id": "GO:0030431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030431", "evidence": [ { "database": "UniProtKB", "id": "O55241", "url": "https://www.uniprot.org/uniprotkb/O55241" } ], "pmid": "" }, { "name": "negative regulation of potassium ion transport", "id": "GO:0043267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043267", "evidence": [ { "database": "UniProtKB", "id": "O55241", "url": "https://www.uniprot.org/uniprotkb/O55241" } ], "pmid": "" }, { "name": "positive regulation of calcium ion transport", "id": "GO:0051928", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051928", "evidence": [ { "database": "UniProtKB", "id": "O55241", "url": "https://www.uniprot.org/uniprotkb/O55241" } ], "pmid": "" }, { "name": "negative regulation of 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"reference_species": "Mus musculus [10090]" } ], "length": 396, "chemical_mass": 44576.0, "gene_names": "Otud3;3110030K17Rik;Otud3", "protein_name": "OTU domain-containing protein 3", "disease": [], "biological_process": [ { "name": "rescue of stalled ribosome", "id": "GO:0072344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072344", "evidence": [ { "database": "UniProtKB", "id": "B1AZ99", "url": "https://www.uniprot.org/uniprotkb/B1AZ99" } ], "pmid": "" }, { "name": "ribosome disassembly", "id": "GO:0032790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032790", "evidence": [ { "database": "UniProtKB", "id": "B1AZ99", "url": "https://www.uniprot.org/uniprotkb/B1AZ99" } ], "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": "B1AZ99", "url": "https://www.uniprot.org/uniprotkb/B1AZ99" } ], "pmid": "" }, { "name": "proteolysis", "id": 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organelle", "id": "GO:0072594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072594", "evidence": [ { "database": "UniProtKB", "id": "P62492", "url": "https://www.uniprot.org/uniprotkb/P62492" } ], "pmid": "" }, { "name": "positive regulation of G2/M transition of mitotic cell cycle", "id": "GO:0010971", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010971", "evidence": [ { "database": "UniProtKB", "id": "P62492", "url": "https://www.uniprot.org/uniprotkb/P62492" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "P62492", "url": "https://www.uniprot.org/uniprotkb/P62492" } ], "pmid": "" }, { "name": "regulation of long-term neuronal synaptic plasticity", "id": "GO:0048169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048169", "evidence": [ { "database": "UniProtKB", "id": "P62492", "url": "https://www.uniprot.org/uniprotkb/P62492" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "P62492", "url": "https://www.uniprot.org/uniprotkb/P62492" } ], "pmid": "" }, { "name": "mitotic spindle assembly", "id": "GO:0090307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090307", "evidence": [ { "database": "UniProtKB", "id": "P62492", "url": "https://www.uniprot.org/uniprotkb/P62492" } ], "pmid": "" }, { "name": "positive regulation of protein localization to plasma membrane", "id": "GO:1903078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903078", "evidence": [ { "database": "UniProtKB", "id": "P62492", "url": "https://www.uniprot.org/uniprotkb/P62492" } ], "pmid": "" }, { "name": "regulation of vesicle-mediated transport", "id": "GO:0060627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060627", "evidence": [ { "database": "UniProtKB", "id": "P62492", "url": "https://www.uniprot.org/uniprotkb/P62492" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "P62492", "url": "https://www.uniprot.org/uniprotkb/P62492" } ], "pmid": "" }, { "name": "microtubule-based movement", "id": "GO:0007018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007018", "evidence": [ { "database": "UniProtKB", "id": "P62492", "url": "https://www.uniprot.org/uniprotkb/P62492" } ], "pmid": "" }, { "name": "Golgi to plasma membrane protein transport", "id": "GO:0043001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043001", "evidence": [ { "database": "UniProtKB", "id": "P62492", "url": "https://www.uniprot.org/uniprotkb/P62492" } ], "pmid": "" }, { "name": "mitotic metaphase chromosome alignment", "id": "GO:0007080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007080", "evidence": [ { "database": "UniProtKB", "id": "P62492", "url": 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"https://www.uniprot.org/uniprotkb/P62492" } ], "pmid": "" }, { "name": "protein localization to cilium", "id": "GO:0061512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061512", "evidence": [ { "database": "UniProtKB", "id": "P62492", "url": "https://www.uniprot.org/uniprotkb/P62492" } ], "pmid": "" }, { "name": "regulation of cilium assembly", "id": "GO:1902017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902017", "evidence": [ { "database": "UniProtKB", "id": "P62492", "url": "https://www.uniprot.org/uniprotkb/P62492" } ], "pmid": "" }, { "name": "regulation of cytokinesis", "id": "GO:0032465", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032465", "evidence": [ { "database": "UniProtKB", "id": "P62492", "url": "https://www.uniprot.org/uniprotkb/P62492" } ], "pmid": "" }, { "name": "establishment of protein localization to membrane", "id": "GO:0090150", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090150", "evidence": [ { "database": "UniProtKB", "id": "P62492", "url": 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"P62492", "url": "https://www.uniprot.org/uniprotkb/P62492" } ], "pmid": "" }, { "name": "protein transmembrane transport", "id": "GO:0071806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071806", "evidence": [ { "database": "UniProtKB", "id": "P62492", "url": "https://www.uniprot.org/uniprotkb/P62492" } ], "pmid": "" }, { "name": "astral microtubule organization", "id": "GO:0030953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030953", "evidence": [ { "database": "UniProtKB", "id": "P62492", "url": "https://www.uniprot.org/uniprotkb/P62492" } ], "pmid": "" }, { "name": "regulation of protein localization to centrosome", "id": "GO:1904779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904779", "evidence": [ { "database": "UniProtKB", "id": "P62492", "url": "https://www.uniprot.org/uniprotkb/P62492" } ], "pmid": "" }, { "name": "early endosome to recycling endosome transport", "id": "GO:0061502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061502", "evidence": [ { "database": "UniProtKB", "id": "P62492", "url": "https://www.uniprot.org/uniprotkb/P62492" } ], "pmid": "" }, { "name": "regulation of early endosome to recycling endosome transport", "id": "GO:1902954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902954", "evidence": [ { "database": "UniProtKB", "id": "P62492", "url": "https://www.uniprot.org/uniprotkb/P62492" } ], "pmid": "" }, { "name": "amyloid-beta clearance by transcytosis", "id": "GO:0150093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150093", "evidence": [ { "database": "UniProtKB", "id": "P62492", "url": "https://www.uniprot.org/uniprotkb/P62492" } ], "pmid": "" }, { "name": "synaptic vesicle endosomal processing", "id": "GO:0099532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099532", "evidence": [ { "database": "UniProtKB", "id": "P62492", "url": "https://www.uniprot.org/uniprotkb/P62492" } ], "pmid": "" }, { "name": "protein localization to cleavage furrow", "id": "GO:1905345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905345", "evidence": [ { "database": "UniProtKB", "id": "P62492", "url": "https://www.uniprot.org/uniprotkb/P62492" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "P62492", "url": "https://www.uniprot.org/uniprotkb/P62492" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "P62492", "url": "https://www.uniprot.org/uniprotkb/P62492" } ], "pmid": "" }, { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "P62492", "url": "https://www.uniprot.org/uniprotkb/P62492" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", 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"3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:4531", "name": "mucoepidermoid carcinoma", "description": "A carcinoma that is characterized by the presence of cuboidal mucous cells, goblet-like mucous cells, squamoid cells, cystic changes, and a fibrotic stromal formation.", "url": "https://disease-ontology.org/term/DOID:4531", "evidence": [ { "id": "4531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4531" } ], "weight": 0.0 }, { "disease_id": "DOID:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:5409", "evidence": [ { "id": "5409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5409" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "weight": 0.0 } ], "biological_process": [ { "name": "mitotic recombination", "id": "GO:0006312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006312", "evidence": [ { "database": "UniProtKB", "id": "P43352", "url": "https://www.uniprot.org/uniprotkb/P43352" } ], "pmid": "" }, { "name": "regulation of nucleotide-excision repair", "id": "GO:2000819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000819", "evidence": [ { "database": "UniProtKB", "id": "P43352", "url": "https://www.uniprot.org/uniprotkb/P43352" } ], "pmid": "" }, { "name": "double-strand break repair via single-strand annealing", "id": "GO:0045002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045002", "evidence": [ { "database": "UniProtKB", "id": "P43352", "url": "https://www.uniprot.org/uniprotkb/P43352" } ], "pmid": "" }, { "name": "DNA recombination", "id": "GO:0006310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006310", "evidence": [ { "database": "UniProtKB", "id": "P43352", "url": "https://www.uniprot.org/uniprotkb/P43352" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "P43352", "url": "https://www.uniprot.org/uniprotkb/P43352" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "P43352", "url": "https://www.uniprot.org/uniprotkb/P43352" } ], "pmid": "" }, { "name": "double-strand break repair via homologous recombination", "id": "GO:0000724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000724", "evidence": [ { "database": "UniProtKB", "id": "P43352", "url": "https://www.uniprot.org/uniprotkb/P43352" } ], "pmid": "" }, { "name": "DNA double-strand break processing involved in repair via single-strand annealing", "id": "GO:0010792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010792", "evidence": [ { "database": "UniProtKB", "id": "P43352", "url": "https://www.uniprot.org/uniprotkb/P43352" } ], "pmid": "" }, { "name": "DNA recombinase assembly", "id": "GO:0000730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000730", "evidence": [ { "database": "UniProtKB", "id": "P43352", "url": "https://www.uniprot.org/uniprotkb/P43352" } ], "pmid": "" }, { "name": "double-strand break repair", "id": "GO:0006302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006302", "evidence": [ { "database": "UniProtKB", "id": "P43352", "url": "https://www.uniprot.org/uniprotkb/P43352" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P43352", "url": "https://www.uniprot.org/uniprotkb/P43352" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P43352", "url": "https://www.uniprot.org/uniprotkb/P43352" } ], "pmid": "" }, { "name": "single-stranded DNA binding", "id": "GO:0003697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003697", "evidence": [ { "database": "UniProtKB", "id": "P43352", "url": "https://www.uniprot.org/uniprotkb/P43352" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P43352", "url": "https://www.uniprot.org/uniprotkb/P43352" } ], "pmid": "" }, { "name": "protein-DNA complex", "id": "GO:0032993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032993", "evidence": [ { "database": "UniProtKB", "id": "P43352", "url": "https://www.uniprot.org/uniprotkb/P43352" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P43352", "url": "https://www.uniprot.org/uniprotkb/P43352" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P43352-1", "start_pos": "310", "end_pos": "310", "site_lbl": "Thr310", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 310, "start_aa": "Thr", "end_pos": 310, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr310", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "P43352", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P43352" }, { "id": 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"database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" } ], "cellular_component": [ { "name": "intracellular vesicle", "id": "GO:0097708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097708", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": 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"id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": 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"biomarkers": [], "sites": [], "record_id": "batch.mouse.13" }, { "uniprot_canonical_ac": "P00796-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P00796", "url": "https://www.uniprot.org/uniprotkb/P00796" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 401, "chemical_mass": 44283.0, "gene_names": "Ren2;Ren-2;Ren-B;Ren2;Ren;Rn-2;Rnr", "protein_name": "Renin-2", "disease": [ { "disease_id": "DOID:0050811", "name": "congenital adrenal hyperplasia", "description": "A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations resulting from steroidogenic enzyme deficiency.", "url": "https://disease-ontology.org/term/DOID:0050811", "evidence": [ { "id": "0050811", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050811" } ], "weight": 0.0 }, { "disease_id": 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It is the most common type of hypertension.", "url": "https://disease-ontology.org/term/DOID:10825", "evidence": [ { "id": "10825", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10825" } ], "weight": 0.0 }, { "disease_id": "DOID:10881", "name": "hand, foot and mouth disease", "description": "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Enterovirus A (Enterovirus alphacoxsackie), which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet.", "url": "https://disease-ontology.org/term/DOID:10881", "evidence": [ { "id": "10881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10881" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:1591", "name": "renovascular hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:1591", "evidence": [ { "id": "1591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1591" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID: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:446", "name": "primary hyperaldosteronism", "description": "An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands.", "url": "https://disease-ontology.org/term/DOID:446", "evidence": [ { "id": "446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:446" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:8544", "name": "chronic fatigue syndrome", "description": "A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions.", "url": "https://disease-ontology.org/term/DOID:8544", "evidence": [ { "id": "8544", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8544" } ], "weight": 0.0 }, { "disease_id": "DOID: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": "endopeptidase activity", "id": "GO:0004175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004175", "evidence": [ { "database": "UniProtKB", "id": "P00796", "url": "https://www.uniprot.org/uniprotkb/P00796" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P00796", "url": "https://www.uniprot.org/uniprotkb/P00796" } ], "pmid": "" }, { "name": "insulin-like growth factor receptor binding", "id": "GO:0005159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005159", "evidence": [ { "database": "UniProtKB", "id": "P00796", "url": "https://www.uniprot.org/uniprotkb/P00796" } ], "pmid": "" }, { "name": "peptidase activity", "id": "GO:0008233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008233", "evidence": [ { "database": "UniProtKB", "id": "P00796", "url": "https://www.uniprot.org/uniprotkb/P00796" } ], "pmid": "" }, { "name": "aspartic-type endopeptidase activity", "id": "GO:0004190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004190", "evidence": [ { "database": "UniProtKB", "id": "P00796", "url": "https://www.uniprot.org/uniprotkb/P00796" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P00796", "url": "https://www.uniprot.org/uniprotkb/P00796" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "P00796", "url": "https://www.uniprot.org/uniprotkb/P00796" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "P00796", "url": "https://www.uniprot.org/uniprotkb/P00796" } ], "pmid": "" }, { "name": "positive regulation of blood pressure", "id": "GO:0045777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045777", "evidence": [ { "database": "UniProtKB", "id": "P00796", "url": "https://www.uniprot.org/uniprotkb/P00796" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "P00796", "url": "https://www.uniprot.org/uniprotkb/P00796" } ], "pmid": "" }, { "name": "angiotensin maturation", "id": "GO:0002003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002003", "evidence": [ { "database": "UniProtKB", "id": "P00796", "url": "https://www.uniprot.org/uniprotkb/P00796" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "P00796", "url": "https://www.uniprot.org/uniprotkb/P00796" } ], "pmid": "" }, { "name": "maintenance of blood vessel diameter homeostasis by renin-angiotensin", "id": "GO:0002034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002034", "evidence": [ { "database": "UniProtKB", "id": "P00796", "url": "https://www.uniprot.org/uniprotkb/P00796" } ], "pmid": "" }, { "name": "angiotensin-activated signaling pathway", "id": "GO:0038166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038166", "evidence": [ { "database": "UniProtKB", "id": "P00796", "url": "https://www.uniprot.org/uniprotkb/P00796" } ], "pmid": "" }, { "name": "response to cAMP", "id": "GO:0051591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051591", "evidence": [ { "database": "UniProtKB", "id": "P00796", "url": "https://www.uniprot.org/uniprotkb/P00796" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P00796", "url": "https://www.uniprot.org/uniprotkb/P00796" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "P00796", "url": "https://www.uniprot.org/uniprotkb/P00796" } ], "pmid": "" }, { "name": "response to cGMP", "id": "GO:0070305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070305", "evidence": [ { "database": "UniProtKB", "id": "P00796", "url": "https://www.uniprot.org/uniprotkb/P00796" } ], "pmid": "" }, { "name": "regulation of MAPK cascade", "id": "GO:0043408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043408", "evidence": [ { "database": "UniProtKB", "id": "P00796", "url": "https://www.uniprot.org/uniprotkb/P00796" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.13" }, { "uniprot_canonical_ac": "P06281-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P06281", "url": "https://www.uniprot.org/uniprotkb/P06281" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 402, "chemical_mass": 44343.0, "gene_names": "Ren1;Ren-1;Ren-A;Ren1c;Ren1d;Ren1;Ren;Rn-1;Rnr", "protein_name": "Renin-1", "disease": [ { "disease_id": "DOID:0050811", "name": "congenital adrenal hyperplasia", "description": "A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations resulting from steroidogenic enzyme deficiency.", "url": "https://disease-ontology.org/term/DOID:0050811", "evidence": [ { "id": "0050811", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050811" } ], "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:0061119", "name": "autosomal dominant tubulointerstitial kidney disease 4", "description": "An autosomal dominant tubulointerstitial kidney disease characterized by early-onset anemia and increased serum uric acid with a bland urinalysis and without proteinuria that has_material_basis_in heterozygous mutation in the renin gene on chromosome 1q32.", "url": "https://disease-ontology.org/term/DOID:0061119", "evidence": [ { "id": "0061119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061119" } ], "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:0080827", "name": "human cytomegalovirus infection", "description": "A viral infectious disease that has_material_basis_in Human betaherpesvirus 5 (Cytomegalovirus humanbeta5).", "url": "https://disease-ontology.org/term/DOID:0080827", "evidence": [ { "id": "0080827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080827" } ], "weight": 0.0 }, { "disease_id": "DOID:10762", "name": "portal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:10762", "evidence": [ { "id": "10762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10825", "name": "essential hypertension", "description": "A hypertension with no known cause. It is the most common type of hypertension.", "url": "https://disease-ontology.org/term/DOID:10825", "evidence": [ { "id": "10825", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10825" } ], "weight": 0.0 }, { "disease_id": "DOID:10881", "name": "hand, foot and mouth disease", "description": "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Enterovirus A (Enterovirus alphacoxsackie), which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet.", "url": "https://disease-ontology.org/term/DOID:10881", "evidence": [ { "id": "10881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10881" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:1591", "name": "renovascular hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:1591", "evidence": [ { "id": "1591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1591" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID: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:446", "name": "primary hyperaldosteronism", "description": "An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands.", "url": "https://disease-ontology.org/term/DOID:446", "evidence": [ { "id": "446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:446" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:8544", "name": "chronic fatigue syndrome", "description": "A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions.", "url": "https://disease-ontology.org/term/DOID:8544", "evidence": [ { "id": "8544", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8544" } ], "weight": 0.0 }, { "disease_id": "DOID: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": "endopeptidase activity", "id": "GO:0004175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004175", "evidence": [ { "database": "UniProtKB", "id": "P06281", "url": "https://www.uniprot.org/uniprotkb/P06281" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P06281", "url": "https://www.uniprot.org/uniprotkb/P06281" } ], "pmid": "" }, { "name": "insulin-like growth factor receptor binding", "id": "GO:0005159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005159", "evidence": [ { "database": "UniProtKB", "id": "P06281", "url": "https://www.uniprot.org/uniprotkb/P06281" } ], "pmid": "" }, { "name": "peptidase activity", "id": "GO:0008233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008233", "evidence": [ { "database": "UniProtKB", "id": "P06281", "url": "https://www.uniprot.org/uniprotkb/P06281" } ], "pmid": "" }, { "name": "aspartic-type endopeptidase activity", "id": "GO:0004190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004190", "evidence": [ { "database": "UniProtKB", "id": "P06281", "url": "https://www.uniprot.org/uniprotkb/P06281" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P06281", "url": "https://www.uniprot.org/uniprotkb/P06281" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P06281", "url": "https://www.uniprot.org/uniprotkb/P06281" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P06281", "url": "https://www.uniprot.org/uniprotkb/P06281" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "P06281", "url": "https://www.uniprot.org/uniprotkb/P06281" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "P06281", "url": "https://www.uniprot.org/uniprotkb/P06281" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P06281", "url": "https://www.uniprot.org/uniprotkb/P06281" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "P06281", "url": "https://www.uniprot.org/uniprotkb/P06281" } ], "pmid": "" }, { "name": "angiotensin maturation", "id": "GO:0002003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002003", "evidence": [ { "database": "UniProtKB", "id": "P06281", "url": "https://www.uniprot.org/uniprotkb/P06281" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", 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} ], "pmid": "" }, { "name": "ribosome", "id": "GO:0005840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005840", "evidence": [ { "database": "UniProtKB", "id": "Q9CPV3", "url": "https://www.uniprot.org/uniprotkb/Q9CPV3" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "Q9CPV3", "url": "https://www.uniprot.org/uniprotkb/Q9CPV3" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial translation", "id": "GO:0032543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032543", "evidence": [ { "database": "UniProtKB", "id": "Q9CPV3", "url": "https://www.uniprot.org/uniprotkb/Q9CPV3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.13" }, { "uniprot_canonical_ac": "A2A825-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2A825", "url": 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Mutant embryos have fewer primary cilia than wild-type embryos, but the cilia that form are of normal length and traffic Hedgehog pathway proteins within the cilium correctly. Although the early steps of cilia initiation proceed normally in mutant cells, mother centrioles fail to extend the microtubule axoneme and fail to move the ciliary vesicle to the cell surface efficiently. 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} ], "pmid": "" }, { "name": "rRNA binding", "id": "GO:0019843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019843", "evidence": [ { "database": "UniProtKB", "id": "Q80X85", "url": "https://www.uniprot.org/uniprotkb/Q80X85" } ], "pmid": "" }, { "name": "structural constituent of ribosome", "id": "GO:0003735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003735", "evidence": [ { "database": "UniProtKB", "id": "Q80X85", "url": "https://www.uniprot.org/uniprotkb/Q80X85" } ], "pmid": "" } ], "biological_process": [ { "name": "translation", "id": "GO:0006412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006412", "evidence": [ { "database": "UniProtKB", "id": "Q80X85", "url": "https://www.uniprot.org/uniprotkb/Q80X85" } ], "pmid": "" }, { "name": "mitochondrial translation", "id": "GO:0032543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032543", "evidence": [ { "database": "UniProtKB", "id": "Q80X85", "url": "https://www.uniprot.org/uniprotkb/Q80X85" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.13" }, { "uniprot_canonical_ac": "Q80X95-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 313, "chemical_mass": 36566.0, "gene_names": "Rraga;1300010C19Rik;FIP-1;RAGA;Rraga", "protein_name": "Ras-related GTP-binding protein A", "disease": [ { "disease_id": "DOID:0061140", "name": "ragopathy", "description": "A syndrome that has_material_basis_in mutations in heterodimeric Ras-related small GTP-binding proteins (Rag-GTPases), which bind mTORC1 in an amino acid-dependent manner and serve as crucial regulators of its kinase activity towards various substrates.", "url": "https://disease-ontology.org/term/DOID:0061140", "evidence": [ { "id": "0061140", "database": "AGR", "url": 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"id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "negative regulation of autophagy", "id": "GO:0010507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010507", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "cellular response to nutrient levels", "id": "GO:0031669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031669", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "positive regulation of TOR signaling", "id": "GO:0032008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032008", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "negative regulation of translational initiation", "id": "GO:0045947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045947", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "protein localization to membrane", "id": "GO:0072657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072657", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "cellular response to starvation", "id": "GO:0009267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009267", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "TORC1 signaling", "id": "GO:0038202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038202", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "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": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "response to amino acid", "id": "GO:0043200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043200", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "cellular response to amino acid starvation", "id": "GO:0034198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034198", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "cellular response to amino acid stimulus", "id": "GO:0071230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071230", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "cytoplasmic translation", "id": "GO:0002181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002181", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "positive regulation of translational initiation", "id": "GO:0045948", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045948", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "protein localization to lysosome", "id": "GO:0061462", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061462", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "regulation of TORC1 signaling", "id": "GO:1903432", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903432", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "cellular response to methionine", "id": "GO:0061431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061431", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "phosphoprotein binding", "id": "GO:0051219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051219", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "protein-membrane adaptor activity", "id": "GO:0043495", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043495", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "GATOR1 complex", "id": "GO:1990130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990130", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "Gtr1-Gtr2 GTPase complex", "id": "GO:1990131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990131", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "FNIP-folliculin RagC/D GAP", "id": "GO:1990877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990877", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q80X95-1", "start_pos": "309", "end_pos": "309", "site_lbl": "Ser309", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ] } ] }, { "uniprot_canonical_ac": "Q80X95-1", "start_pos": "66", "end_pos": "66", "site_lbl": "Gln66", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Maintains GTP-bound state, leading to activate mTORC1. Knockin mice develop normally, but die within 1 day postpartum because of constitutive activation of mTORC1 that prevents response to fasting. Inhibition of mTORC1 is required for neonatal autophagy and thus nutrient homeostasis.", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" }, { "database": "PubMed", "id": "23263183", "url": "https://glygen.org/publication/PubMed/23263183" } ] } ] } ], "record_id": "batch.mouse.13" }, { "uniprot_canonical_ac": "Q80Y81-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80Y81", "url": "https://www.uniprot.org/uniprotkb/Q80Y81" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 831, "chemical_mass": 92719.0, "gene_names": "Elac2;1110017O07Rik;D11Wsu80e;Elac2;Hpc2", "protein_name": "Zinc phosphodiesterase ELAC protein 2", "disease": [ { "disease_id": "DOID:0060536", "name": "mitochondrial complex I deficiency", "description": "A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded.", "url": "https://disease-ontology.org/term/DOID:0060536", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ], "weight": 0.0 }, { "disease_id": "DOID:0111496", "name": "combined oxidative phosphorylation deficiency 17", "description": "A combined oxidative phosphorylation deficiency characterized by onset in the first years of life of severe hypertrophic cardiomyopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ELAC2 gene on chromosome 17p12.", "url": "https://disease-ontology.org/term/DOID:0111496", "evidence": [ { "id": "0111496", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111496" } ], "weight": 0.0 }, { "disease_id": "DOID:0111753", "name": "infantile hypertrophic cardiomyopathy", "description": "A hypertrophic cardiomyopathy characterized by isolated hypertrophic cardiomyopathy and congestive heart failure that has_material_basis_in mutation in the overlapping mitochondrial genes MTATP6 and MTATP8.", "url": "https://disease-ontology.org/term/DOID:0111753", "evidence": [ { "id": "0111753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111753" } ], "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 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q80Y81", "url": "https://www.uniprot.org/uniprotkb/Q80Y81" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": 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"start_pos": "170", "end_pos": "170", "site_lbl": "Thr170", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "T", "relation": "attached", "comment": "O-linked (GalNAc) threonine;O-GalNAcylation", "icn3d_view": {}, "start_pos": 170, "start_aa": "Thr", "end_pos": 170, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr170", "evidence": [ { "id": "Q64519", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q64519#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "172", "end_pos": "172", "site_lbl": "Thr172", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "T", "relation": "attached", "comment": "O-linked (GalNAc) threonine;O-GalNAcylation", "icn3d_view": {}, "start_pos": 172, "start_aa": "Thr", "end_pos": 172, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr172", "evidence": [ { "id": "Q64519", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q64519#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "246", "end_pos": "246", "site_lbl": "Thr246", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 246, "start_aa": "Thr", "end_pos": 246, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr246", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "287", "end_pos": "287", "site_lbl": "Thr287", "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": 287, "start_aa": "Thr", "end_pos": 287, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr287", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->M); glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "130546502", "evidence": [ { "id": "rs3542854210", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542854210" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "315", "end_pos": "315", "site_lbl": "Ser315", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (Xyl...) (glycosaminoglycan) serine", "icn3d_view": {}, "start_pos": 315, "start_aa": "Ser", "end_pos": 315, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser315", "evidence": [ { "id": "Q64519", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q64519#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "367", "end_pos": "367", "site_lbl": "Ser367", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (Xyl...) (glycosaminoglycan) serine", "icn3d_view": {}, "start_pos": 367, "start_aa": "Ser", "end_pos": 367, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser367", "evidence": [ { "id": "Q64519", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q64519#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "78", "end_pos": "78", "site_lbl": "Ser78", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (Xyl...) (glycosaminoglycan) serine", "icn3d_view": {}, "start_pos": 78, "start_aa": "Ser", "end_pos": 78, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser78", "evidence": [ { "id": "Q64519", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q64519#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "80", "end_pos": "80", "site_lbl": "Ser80", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (Xyl...) (glycosaminoglycan) serine", "icn3d_view": {}, "start_pos": 80, "start_aa": "Ser", "end_pos": 80, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser80", "evidence": [ { "id": "Q64519", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q64519#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "82", "end_pos": "82", "site_lbl": "Ser82", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (Xyl...) (glycosaminoglycan) serine", "icn3d_view": {}, "start_pos": 82, "start_aa": "Ser", "end_pos": 82, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser82", "evidence": [ { "id": "Q64519", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q64519#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "89", "end_pos": "89", "site_lbl": "Ser89", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (Xyl...) (glycosaminoglycan) serine", "icn3d_view": {}, "start_pos": 89, "start_aa": "Ser", "end_pos": 89, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser89", "evidence": [ { "id": "Q64519", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q64519#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "409", "end_pos": "409", "site_lbl": "Tyr409", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64519", "url": "https://www.uniprot.org/uniprotkb/Q64519" } ] } ], "snv": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "130550017", "evidence": [ { "id": "rs3388718779", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388718779" } ] }, { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "130550016", "evidence": [ { "id": "rs3388713739", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388713739" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "419", "end_pos": "419", "site_lbl": "Tyr419", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64519", "url": "https://www.uniprot.org/uniprotkb/Q64519" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "431", "end_pos": "431", "site_lbl": "Tyr431", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64519", "url": "https://www.uniprot.org/uniprotkb/Q64519" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "441", "end_pos": "441", "site_lbl": "Tyr441", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64519", "url": "https://www.uniprot.org/uniprotkb/Q64519" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "105", "end_pos": "105", "site_lbl": "Ala105", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "130545956", "evidence": [ { "id": "rs3542794325", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542794325" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "11", "end_pos": "11", "site_lbl": "Ala11", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "130545956", "evidence": [ { "id": "rs3542794325", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542794325" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "121", "end_pos": "121", "site_lbl": "Asp121", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "130546005", "evidence": [ { "id": "rs3388718822", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388718822" } ] }, { "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "130546003", "evidence": [ { "id": "rs3388718511", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388718511" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "122", "end_pos": "122", "site_lbl": "Thr122", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "130546006", "evidence": [ { "id": "rs3388713733", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388713733" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "123", "end_pos": "123", "site_lbl": "Pro123", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "130546009", "evidence": [ { "id": "rs3388711578", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388711578" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "130", "end_pos": "130", "site_lbl": "Glu130", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "130546030", "evidence": [ { "id": "rs3542811072", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542811072" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "143", "end_pos": "143", "site_lbl": "Val143", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "130546069", "evidence": [ { "id": "rs3542813777", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542813777" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "165", "end_pos": "165", "site_lbl": "Ser165", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "130546136", "evidence": [ { "id": "rs3388718507", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388718507" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "178", "end_pos": "178", "site_lbl": "Ala178", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "130546175", "evidence": [ { "id": "rs3542794114", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542794114" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "181", "end_pos": "181", "site_lbl": "Pro181", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "130546183", "evidence": [ { "id": "rs3542854391", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542854391" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "255", "end_pos": "255", "site_lbl": "Ser255", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "130546406", "evidence": [ { "id": "rs3542859547", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542859547" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "258", "end_pos": "258", "site_lbl": "Arg258", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "130546415", "evidence": [ { "id": "rs3388711181", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388711181" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "262", "end_pos": "262", "site_lbl": "Arg262", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "130546426", "evidence": [ { "id": "rs3542883476", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542883476" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "271", "end_pos": "271", "site_lbl": "Val271", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "130546454", "evidence": [ { "id": "rs3388716894", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388716894" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "272", "end_pos": "272", "site_lbl": "Ala272", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "130546457", "evidence": [ { "id": "rs3542793106", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542793106" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "296", "end_pos": "296", "site_lbl": "Glu296", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "130548692", "evidence": [ { "id": "rs3542859041", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542859041" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "308", "end_pos": "308", 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Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. 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"Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" } ], "pmid": "" }, { "name": "transmembrane transporter activity", "id": "GO:0022857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" } ], "pmid": "" }, { "name": "symporter activity", "id": "GO:0015293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015293", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" } ], "pmid": "" }, { "name": "PDZ domain binding", "id": "GO:0030165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030165", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E8", "url": 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"Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" } ], "pmid": "" }, { "name": "sodium ion transport", "id": "GO:0006814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006814", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" } ], "pmid": "" }, { "name": "liver regeneration", "id": "GO:0097421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097421", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" } ], "pmid": "" }, { "name": "positive regulation of intestinal epithelial structure maintenance", "id": "GO:0060731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060731", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" } ], "pmid": "" }, { "name": "sodium-dependent organic cation transport", "id": "GO:0070715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070715", "evidence": [ { "database": 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"id": "GO:0032354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032354", "evidence": [ { "database": "UniProtKB", "id": "Q99N99", "url": "https://www.uniprot.org/uniprotkb/Q99N99" } ], "pmid": "" }, { "name": "testosterone biosynthetic process", "id": "GO:0061370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061370", "evidence": [ { "database": "UniProtKB", "id": "Q99N99", "url": "https://www.uniprot.org/uniprotkb/Q99N99" } ], "pmid": "" }, { "name": "male genitalia development", "id": "GO:0030539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030539", "evidence": [ { "database": "UniProtKB", "id": "Q99N99", "url": "https://www.uniprot.org/uniprotkb/Q99N99" } ], "pmid": "" }, { "name": "hypothalamus development", "id": "GO:0021854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021854", "evidence": [ { "database": "UniProtKB", "id": "Q99N99", "url": "https://www.uniprot.org/uniprotkb/Q99N99" } ], "pmid": "" }, { "name": "response to testosterone", "id": "GO:0033574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033574", "evidence": [ { "database": "UniProtKB", "id": "Q99N99", "url": "https://www.uniprot.org/uniprotkb/Q99N99" } ], "pmid": "" }, { "name": "phthalate metabolic process", "id": "GO:0018963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018963", "evidence": [ { "database": "UniProtKB", "id": "Q99N99", "url": "https://www.uniprot.org/uniprotkb/Q99N99" } ], "pmid": "" }, { "name": "steroid catabolic process", "id": "GO:0006706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006706", "evidence": [ { "database": "UniProtKB", "id": "Q99N99", "url": "https://www.uniprot.org/uniprotkb/Q99N99" } ], "pmid": "" }, { "name": "dibenzo-p-dioxin metabolic process", "id": "GO:0018894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018894", "evidence": [ { "database": "UniProtKB", "id": "Q99N99", "url": "https://www.uniprot.org/uniprotkb/Q99N99" } ], "pmid": "" }, { "name": "response to biphenyl", "id": "GO:1904614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904614", "evidence": [ { "database": "UniProtKB", "id": "Q99N99", "url": "https://www.uniprot.org/uniprotkb/Q99N99" } ], "pmid": "" } ], "molecular_function": [ { "name": "amide binding", "id": "GO:0033218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033218", "evidence": [ { "database": "UniProtKB", "id": "Q99N99", "url": "https://www.uniprot.org/uniprotkb/Q99N99" } ], "pmid": "" }, { "name": "testosterone dehydrogenase (NADP+) activity", "id": "GO:0047045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047045", "evidence": [ { "database": "UniProtKB", "id": "Q99N99", "url": "https://www.uniprot.org/uniprotkb/Q99N99" } ], "pmid": "" }, { "name": "3-oxo-5-alpha-steroid 4-dehydrogenase activity", "id": "GO:0003865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003865", "evidence": [ { "database": "UniProtKB", "id": "Q99N99", "url": "https://www.uniprot.org/uniprotkb/Q99N99" } ], "pmid": "" }, { "name": "3-oxo-5-alpha-steroid 4-dehydrogenase 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"gene_names": "Spata31e2;4931408C20Rik;Spata31e2", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.13" }, { "uniprot_canonical_ac": "E9Q0T8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q0T8", "url": "https://www.uniprot.org/uniprotkb/E9Q0T8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 4024, "chemical_mass": 460904.0, "gene_names": "Dnah7a;Dnah7a;Dnahc7a;Dnahc7b;Dnahc7;Gm992", "protein_name": "Dynein axonemal heavy chain 7", "disease": [ { "disease_id": "DOID:9562", "name": "primary ciliary dyskinesia", "description": "A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube.", "url": "https://disease-ontology.org/term/DOID:9562", "evidence": [ { "id": "9562", "database": 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}, { "disease_id": "DOID:8725", "name": "vascular dementia", "description": "A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain.", "url": "https://disease-ontology.org/term/DOID:8725", "evidence": [ { "id": "8725", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8725" } ], "weight": 0.0 } ], "biological_process": [ { "name": "nose development", "id": "GO:0043584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043584", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "negative regulation of G protein-coupled receptor signaling pathway", "id": "GO:0045744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045744", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "embryonic forelimb morphogenesis", "id": "GO:0035115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035115", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "embryonic hindlimb morphogenesis", "id": "GO:0035116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035116", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "retinal rod cell development", "id": "GO:0046548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046548", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "regulation of smoothened signaling pathway", "id": "GO:0008589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008589", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "neural tube patterning", "id": "GO:0021532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021532", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "non-motile cilium assembly", "id": "GO:1905515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905515", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "lateral ventricle development", "id": "GO:0021670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021670", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "establishment or maintenance of cell polarity", "id": "GO:0007163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007163", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "limb morphogenesis", "id": "GO:0035108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035108", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "cerebellum development", "id": "GO:0021549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021549", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "corpus callosum development", "id": "GO:0022038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022038", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "head development", "id": "GO:0060322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060322", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "camera-type eye development", "id": "GO:0043010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "telencephalon development", "id": "GO:0021537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021537", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "pericardium development", "id": "GO:0060039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060039", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "establishment of planar polarity", "id": "GO:0001736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001736", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "olfactory bulb development", "id": "GO:0021772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021772", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "cochlea development", "id": "GO:0090102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090102", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "bicellular tight junction", "id": "GO:0005923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005923", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "ciliary rootlet", "id": "GO:0035253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035253", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "axoneme", "id": "GO:0005930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005930", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "photoreceptor connecting cilium", "id": "GO:0032391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032391", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "axonemal microtubule", "id": "GO:0005879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005879", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "ciliary transition zone", "id": "GO:0035869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035869", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" } ], "molecular_function": [ { "name": "thromboxane A2 receptor binding", "id": "GO:0031870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031870", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.13" }, { "uniprot_canonical_ac": "P21803-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 821, "chemical_mass": 91984.0, "gene_names": "Fgfr2;Bek;Ect1;Fgfr-2;Fgfr-7;Fgfr2b;Fgfr2;Fgfr7;KGFRTr;KGFR;svs", "protein_name": "Fibroblast growth factor receptor 2", "disease": [ { "disease_id": "DOID:0050156", "name": "idiopathic pulmonary fibrosis", "description": "A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe.", "url": "https://disease-ontology.org/term/DOID:0050156", "evidence": [ { "id": "0050156", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050156" } ], "weight": 0.0 }, { "disease_id": "DOID:0050331", "name": "lacrimoauriculodentodigital syndrome 1", "description": "A syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes.", "url": "https://disease-ontology.org/term/DOID:0050331", "evidence": [ { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" } ], "weight": 0.0 }, { "disease_id": "DOID:0050660", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.", "url": "https://disease-ontology.org/term/DOID:0050660", "evidence": [ { "id": "0050660", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050660" } ], "weight": 0.0 }, { "disease_id": "DOID:0050861", "name": "colorectal adenocarcinoma", "description": "A colorectal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:0050861", "evidence": [ { "id": "0050861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050861" } ], "weight": 0.0 }, { "disease_id": "DOID:0060992", "name": "bent bone dysplasia syndrome 1", "description": "A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.", "url": "https://disease-ontology.org/term/DOID:0060992", "evidence": [ { "id": "0060992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060992" } ], "weight": 0.0 }, { "disease_id": "DOID:0080001", "name": "bone disease", "description": "A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function.", "url": "https://disease-ontology.org/term/DOID:0080001", "evidence": [ { "id": "0080001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080001" } ], "weight": 0.0 }, { "disease_id": "DOID:0081289", "name": "Antley-Bixler syndrome", "description": "A craniosynostosis that is characterized by radiohumeral synostosis present from the perinatal period.", "url": "https://disease-ontology.org/term/DOID:0081289", "evidence": [ { "id": "0081289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081289" } ], "weight": 0.0 }, { "disease_id": "DOID:0081290", "name": "Antley-Bixler syndrome without disordered steroidogenesis", "description": "An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome.", "url": "https://disease-ontology.org/term/DOID:0081290", "evidence": [ { "id": "0081290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081290" } ], "weight": 0.0 }, { "disease_id": "DOID:0111337", "name": "Jackson-Weiss syndrome", "description": "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13.", "url": "https://disease-ontology.org/term/DOID:0111337", "evidence": [ { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" } ], "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:10486", "name": "intestinal atresia", "description": "", "url": "https://disease-ontology.org/term/DOID:10486", "evidence": [ { "id": "10486", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10486" } ], "weight": 0.0 }, { "disease_id": "DOID: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:10584", "name": "retinitis pigmentosa", "description": "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.", "url": "https://disease-ontology.org/term/DOID:10584", "evidence": [ { "id": "10584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10584" } ], "weight": 0.0 }, { "disease_id": "DOID:10762", "name": "portal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:10762", "evidence": [ { "id": "10762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ], "weight": 0.0 }, { "disease_id": "DOID:10825", "name": "essential hypertension", "description": "A hypertension with no known cause. It is the most common type of hypertension.", "url": "https://disease-ontology.org/term/DOID:10825", "evidence": [ { "id": "10825", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10825" } ], "weight": 0.0 }, { "disease_id": "DOID:10892", "name": "hypospadias", "description": "A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum.", "url": "https://disease-ontology.org/term/DOID:10892", "evidence": [ { "id": "10892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:12960", "name": "acrocephalosyndactylia", "description": "A synostosis that results_in craniosynostosis and syndactyly.", "url": "https://disease-ontology.org/term/DOID:12960", "evidence": [ { "id": "12960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12960" } ], "weight": 0.0 }, { "disease_id": "DOID:14557", "name": "primary pulmonary hypertension", "description": "A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling.", "url": "https://disease-ontology.org/term/DOID:14557", "evidence": [ { "id": "14557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14557" } ], "weight": 0.0 }, { "disease_id": "DOID:14705", "name": "Pfeiffer syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull.", "url": "https://disease-ontology.org/term/DOID:14705", "evidence": [ { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" } ], "weight": 0.0 }, { "disease_id": "DOID:14768", "name": "Saethre-Chotzen syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull.", "url": "https://disease-ontology.org/term/DOID:14768", "evidence": [ { "id": "14768", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14768" } ], "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:1749", "name": "squamous cell carcinoma", "description": "A carcinoma that derives_from squamous epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1749", "evidence": [ { "id": "1749", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1749" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2339", "name": "Crouzon syndrome", "description": "A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. 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 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:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:4441", "name": "dysgerminoma", "description": "A germ cell cancer that derives_from cells that give rise to egg cells.", "url": "https://disease-ontology.org/term/DOID:4441", "evidence": [ { "id": "4441", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4441" } ], "weight": 0.0 }, { "disease_id": "DOID:5517", "name": "stomach carcinoma", "description": "A stomach cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:5517", "evidence": [ { "id": "5517", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5517" } ], "weight": 0.0 }, { "disease_id": "DOID: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:7843", "name": "female breast carcinoma", "description": "A breast carcinoma that is manifested in the female breast.", "url": "https://disease-ontology.org/term/DOID:7843", "evidence": [ { "id": "7843", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7843" } ], "weight": 0.0 }, { "disease_id": "DOID:8445", "name": "intestinal 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"https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "branching morphogenesis of a nerve", "id": "GO:0048755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048755", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "regulation of epithelial cell proliferation", "id": "GO:0050678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050678", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "prostate epithelial cord elongation", "id": "GO:0060523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060523", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "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": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "endodermal digestive tract morphogenesis", "id": "GO:0061031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061031", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "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": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "neuromuscular junction development", "id": "GO:0007528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007528", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "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": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "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": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "peptidyl-tyrosine phosphorylation", "id": "GO:0018108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018108", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "epithelial cell differentiation", "id": "GO:0030855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030855", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "inner ear morphogenesis", "id": "GO:0042472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042472", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "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": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "lung alveolus development", "id": "GO:0048286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048286", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "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": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "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": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "post-embryonic development", "id": "GO:0009791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009791", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "animal organ morphogenesis", "id": "GO:0009887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "morphogenesis of embryonic epithelium", "id": "GO:0016331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016331", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "positive regulation of cell division", "id": "GO:0051781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051781", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "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": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "negative regulation of keratinocyte proliferation", "id": "GO:0010839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010839", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "regulation of osteoblast proliferation", "id": "GO:0033688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033688", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "odontogenesis", "id": "GO:0042476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042476", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "positive regulation of cell cycle", "id": "GO:0045787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045787", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "embryonic cranial skeleton morphogenesis", "id": "GO:0048701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048701", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "bone development", "id": "GO:0060348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060348", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "bone morphogenesis", "id": "GO:0060349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060349", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "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": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "epithelial to mesenchymal transition", "id": "GO:0001837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001837", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "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": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "digestive tract development", "id": "GO:0048565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048565", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "organ growth", "id": "GO:0035265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035265", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "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": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { 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"database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "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": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "epidermis development", "id": "GO:0008544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008544", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "substantia nigra development", "id": "GO:0021762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021762", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "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": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "positive regulation of cell differentiation", "id": "GO:0045597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045597", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell proliferation", "id": "GO:0001938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001938", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "digestive tract morphogenesis", "id": "GO:0048546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048546", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "positive regulation of peptidyl-tyrosine phosphorylation", "id": "GO:0050731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050731", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "ERK1 and ERK2 cascade", "id": "GO:0070371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070371", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "positive regulation of bone mineralization", "id": "GO:0030501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030501", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "positive regulation of protein ubiquitination", "id": "GO:0031398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031398", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "positive regulation of neuron apoptotic process", "id": "GO:0043525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043525", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "response to axon injury", "id": "GO:0048678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048678", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "bone development", "id": "GO:0060348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060348", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "bone morphogenesis", "id": "GO:0060349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060349", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "regulation of ossification", "id": "GO:0030278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030278", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "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": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "negative regulation of cell differentiation", "id": "GO:0045596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045596", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "inner ear development", "id": "GO:0048839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048839", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "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": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "calcium ion homeostasis", "id": "GO:0055074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055074", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "positive regulation of phospholipase activity", "id": "GO:0010518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010518", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "neuroblast proliferation", "id": "GO:0007405", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007405", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "cartilage development", "id": "GO:0051216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051216", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "oligodendrocyte development", "id": "GO:0014003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014003", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "somatic stem cell population maintenance", "id": "GO:0035019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035019", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "positive regulation of tyrosine phosphorylation of STAT protein", "id": "GO:0042531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042531", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "epithelial cell fate commitment", "id": "GO:0072148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072148", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "bone mineralization", "id": "GO:0030282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030282", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "regulation of osteoclast differentiation", "id": "GO:0045670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045670", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "axonogenesis involved in innervation", "id": "GO:0060385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060385", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "lens fiber cell development", "id": "GO:0070307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070307", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "morphogenesis of an epithelium", "id": "GO:0002009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002009", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "lens morphogenesis in camera-type eye", "id": "GO:0002089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002089", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "inner ear receptor cell differentiation", "id": "GO:0060113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060113", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "fibroblast growth factor receptor signaling pathway", "id": "GO:0008543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008543", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "post-anal tail morphogenesis", "id": "GO:0036342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036342", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "negative regulation of smoothened signaling pathway", "id": "GO:0045879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045879", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway via JAK-STAT", "id": "GO:0007259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007259", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "cochlea development", "id": "GO:0090102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090102", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "negative regulation of astrocyte differentiation", "id": "GO:0048712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048712", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "negative regulation of developmental growth", "id": "GO:0048640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048640", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "bone maturation", "id": "GO:0070977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070977", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "positive regulation of cell proliferation in bone marrow", "id": "GO:0071864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071864", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "fibroblast growth factor receptor apoptotic signaling pathway", "id": "GO:1902178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902178", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "p38MAPK cascade", "id": "GO:0038066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038066", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "regulation of bone remodeling", "id": "GO:0046850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046850", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "regulation of collagen metabolic process", "id": "GO:0010712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010712", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "respiratory system development", "id": "GO:0060541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060541", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "regulation of epithelial cell proliferation", "id": "GO:0050678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050678", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "epithelial cell differentiation", "id": "GO:0030855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030855", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "regulation of mitotic cell cycle", "id": "GO:0007346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007346", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "biomineral tissue development", "id": "GO:0031214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031214", "evidence": [ { "database": "UniProtKB", "id": "Q61851", 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} ] } ], "record_id": "batch.mouse.13" }, { "uniprot_canonical_ac": "O89053-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 461, "chemical_mass": 50989.0, "gene_names": "Coro1a;Clabp;Coro1a;Coro1;Lmb3;TACO;p57", "protein_name": "Coronin-1A", "disease": [ { "disease_id": "DOID:0060019", "name": "coronin-1A deficiency", "description": "A severe combined immunodeficiency that is an actin regulator when mutated results in SCID through inhibition of thymic egress of mature thymocytes into peripheral lymphoid organs.", "url": "https://disease-ontology.org/term/DOID:0060019", "evidence": [ { "id": "0060019", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060019" } ], "weight": 0.0 }, { "disease_id": "DOID:0070515", "name": "chromosome 16p11.2 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"pmid": "" }, { "name": "positive regulation of smooth muscle cell proliferation", "id": "GO:0048661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048661", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "regulation of inflammatory response", "id": "GO:0050727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050727", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "osteoclast development", "id": "GO:0036035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036035", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "endothelial cell activation", "id": "GO:0042118", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042118", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "cardiac muscle cell differentiation", "id": "GO:0055007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055007", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "regulation of androgen receptor signaling pathway", "id": "GO:0060765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060765", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "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": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "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": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "regulation of endothelial tube morphogenesis", "id": "GO:1901509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901509", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "pre-B cell differentiation", "id": "GO:0002329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002329", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "skeletal muscle tissue development", "id": "GO:0007519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007519", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "motor neuron axon guidance", "id": "GO:0008045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008045", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "cellular response to ionomycin", "id": "GO:1904637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904637", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "regulation of chemokine (C-X-C motif) ligand 2 production", "id": "GO:2000341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000341", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "negative regulation of B cell apoptotic process", "id": "GO:0002903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002903", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "positive regulation of mesenchymal cell proliferation", "id": "GO:0002053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002053", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "macrophage activation", "id": "GO:0042116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042116", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "smooth muscle tissue development", "id": "GO:0048745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048745", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "regulation of cardiac muscle cell proliferation", "id": "GO:0060043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060043", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "negative regulation of androgen receptor signaling pathway", "id": "GO:0060766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060766", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "positive regulation of B cell receptor signaling pathway", "id": "GO:0050861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050861", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "regulation of monocyte differentiation", "id": "GO:0045655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045655", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "regulation of defense response to bacterium", "id": 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"evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "pmid": "" }, { "name": "structural constituent of muscle", "id": "GO:0008307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008307", "evidence": [ { 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"id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P50462-1", "start_pos": "111", "end_pos": "111", "site_lbl": "Ser111", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P50462", "url": 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"Trp4", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Mice develop an age- and gene dosage-dependent hypertrophic cardiomyopathy and heart failure phenotype, characterized by almost complete loss of contractile reserve under catecholamine induced stress. They display increased in septum wall thickness, fractional shortening, and wall thickness per diameter (h/r). There is also evidence for skeletal muscle pathology. In addition, homozygous mutants show increased left ventricle (LC) mass per body weight (BW) and significantly reduced body weight. An increased nuclear localization of Csrp3 is also observed. Decreases interaction with TCAP.", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" }, { "database": "PubMed", "id": "20044516", "url": "https://glygen.org/publication/PubMed/20044516" } ] } ] } ], "record_id": "batch.mouse.13" }, { "uniprot_canonical_ac": "Q640M6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q640M6", "url": "https://www.uniprot.org/uniprotkb/Q640M6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 607, "chemical_mass": 68890.0, "gene_names": "Gdpd5;Gde2;Gdpd5", "protein_name": "Glycerophosphodiester phosphodiesterase 2", "disease": [], "molecular_function": [ { "name": "phosphatidylinositol-4,5-bisphosphate phospholipase C activity", "id": "GO:0004435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004435", "evidence": [ { "database": "UniProtKB", "id": "Q640M6", "url": 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"" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q640M6", "url": "https://www.uniprot.org/uniprotkb/Q640M6" } ], "pmid": "" }, { "name": "perinuclear endoplasmic reticulum", "id": "GO:0097038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097038", "evidence": [ { "database": "UniProtKB", "id": "Q640M6", "url": "https://www.uniprot.org/uniprotkb/Q640M6" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q640M6", "url": "https://www.uniprot.org/uniprotkb/Q640M6" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q640M6", "url": "https://www.uniprot.org/uniprotkb/Q640M6" } ], "pmid": "" }, { "name": "endomembrane system", "id": 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No effect on phosphorylation after DNA damage. No effect on Ser-140 phosphorylation, nor on TP53BP1 recruitment to DNA double-strand breaks.", "evidence": [ { "database": "UniProtKB", "id": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" }, { "database": "PubMed", "id": "20488183", "url": "https://glygen.org/publication/PubMed/20488183" } ] }, { "sequence_org": "K", "sequence_mut": "R", "comment": "No effect on phosphorylation after DNA damage, but increased radiosensitivity. Further increase in radiosensitivity; when associated with A-140.", "evidence": [ { "database": "UniProtKB", "id": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" }, { "database": "PubMed", "id": "20488183", "url": "https://glygen.org/publication/PubMed/20488183" } ] } ] }, { "uniprot_canonical_ac": "P27661-1", "start_pos": "6", "end_pos": "6", "site_lbl": "Lys6", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "No effect on radiosensitivity; when associated with A-10, A-14 and A-16.", "evidence": [ { "database": "UniProtKB", "id": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" }, { "database": "PubMed", "id": "20488183", "url": "https://glygen.org/publication/PubMed/20488183" } ] } ] } ], "record_id": "batch.mouse.13" }, { "uniprot_canonical_ac": "S4R1E0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "S4R1E0", "url": "https://www.uniprot.org/uniprotkb/S4R1E0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 115, "chemical_mass": 13384.0, "gene_names": "H2ab1;Gm14920;Gm1539;H2A.B.3;H2A.Bbd1;H2A.Lap1;H2ab1;H2afb1", "protein_name": "Histone H2A", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "S4R1E0", "url": "https://www.uniprot.org/uniprotkb/S4R1E0" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "S4R1E0", "url": "https://www.uniprot.org/uniprotkb/S4R1E0" } ], "pmid": "" }, { "name": "structural constituent of chromatin", "id": "GO:0030527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030527", "evidence": [ { "database": "UniProtKB", "id": "S4R1E0", "url": "https://www.uniprot.org/uniprotkb/S4R1E0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "S4R1E0", "url": "https://www.uniprot.org/uniprotkb/S4R1E0" } ], "pmid": "" }, { "name": "euchromatin", "id": "GO:0000791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000791", "evidence": [ { "database": "UniProtKB", "id": "S4R1E0", "url": "https://www.uniprot.org/uniprotkb/S4R1E0" } ], "pmid": "" }, { "name": "nucleosome", "id": "GO:0000786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000786", "evidence": [ { "database": "UniProtKB", "id": "S4R1E0", "url": "https://www.uniprot.org/uniprotkb/S4R1E0" } ], "pmid": "" } ], "biological_process": [ { "name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "S4R1E0", "url": "https://www.uniprot.org/uniprotkb/S4R1E0" } ], "pmid": "" }, { "name": "nucleosome assembly", "id": "GO:0006334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006334", "evidence": [ { "database": "UniProtKB", "id": "S4R1E0", "url": "https://www.uniprot.org/uniprotkb/S4R1E0" } ], "pmid": "" }, { "name": "heterochromatin formation", "id": "GO:0031507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031507", "evidence": [ { "database": "UniProtKB", "id": "S4R1E0", "url": "https://www.uniprot.org/uniprotkb/S4R1E0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.13" }, { "uniprot_canonical_ac": "Q2NL51-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 490, "chemical_mass": 51661.0, "gene_names": "Gsk3a;2700086H06Rik;Gsk3a", "protein_name": "Glycogen synthase kinase-3 alpha", "disease": [ { "disease_id": "DOID:0080855", "name": "Parkinsonism", "description": "A movement disorder that is characterized by disturbances of balance, gait and posture.", "url": "https://disease-ontology.org/term/DOID:0080855", "evidence": [ { "id": "0080855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080855" } ], "weight": 0.0 }, { "disease_id": "DOID: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:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of cell growth involved in cardiac muscle cell development", "id": "GO:0061052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061052", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "negative regulation of insulin receptor signaling pathway", "id": "GO:0046627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046627", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "positive regulation of peptidyl-threonine phosphorylation", "id": "GO:0010800", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010800", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "positive regulation of peptidyl-serine phosphorylation", "id": "GO:0033138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033138", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "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": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "negative regulation of canonical Wnt signaling pathway", "id": "GO:0090090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "positive regulation of amyloid-beta formation", "id": "GO:1902004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902004", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "positive regulation of protein targeting to mitochondrion", "id": "GO:1903955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903955", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "glycogen metabolic process", "id": "GO:0005977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005977", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "proteasome-mediated ubiquitin-dependent protein catabolic process", "id": "GO:0043161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043161", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "positive regulation of substrate adhesion-dependent cell spreading", "id": "GO:1900026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900026", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "positive regulation of protein ubiquitination", "id": "GO:0031398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031398", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "negative regulation of TOR signaling", "id": "GO:0032007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032007", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "insulin receptor signaling pathway", "id": "GO:0008286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008286", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway", "id": "GO:0097191", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097191", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "positive regulation of neuron apoptotic process", "id": "GO:0043525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043525", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032436", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "regulation of systemic arterial blood pressure", "id": "GO:0003073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003073", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "regulation of neuron projection development", "id": "GO:0010975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010975", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "lipopolysaccharide-mediated signaling pathway", "id": "GO:0031663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031663", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "negative regulation of dendrite development", "id": "GO:2000171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000171", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "cellular response to glucocorticoid stimulus", "id": "GO:0071385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071385", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "positive regulation of adenylate cyclase-activating adrenergic receptor signaling pathway", "id": "GO:0071879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071879", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway in absence of ligand", "id": "GO:0097192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097192", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway", "id": "GO:1901030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901030", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "positive regulation of heart contraction", "id": "GO:0045823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045823", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "regulation of microtubule cytoskeleton organization", "id": "GO:0070507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070507", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "cellular response to lithium ion", "id": "GO:0071285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071285", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "cardiac left ventricle morphogenesis", "id": "GO:0003214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003214", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "cellular response to interleukin-3", "id": "GO:0036016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036016", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "positive regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0106071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106071", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "negative regulation of D-glucose import", "id": "GO:0046325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046325", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "regulation of mitophagy", "id": "GO:1901524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901524", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "autosome genomic imprinting", "id": "GO:0141068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141068", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "regulation of cell growth", "id": "GO:0001558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001558", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "negative regulation of cardiac muscle hypertrophy", "id": "GO:0010614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010614", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "regulation of striated muscle cell differentiation", "id": "GO:0051153", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051153", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "negative regulation of developmental process", "id": "GO:0051093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051093", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase A catalytic subunit binding", "id": 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"id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8C0D7", "url": "https://www.uniprot.org/uniprotkb/Q8C0D7" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8C0D7", "url": "https://www.uniprot.org/uniprotkb/Q8C0D7" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8C0D7", "url": "https://www.uniprot.org/uniprotkb/Q8C0D7" } ], "pmid": "" }, { "name": "intermediate filament cytoskeleton", "id": "GO:0045111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045111", "evidence": [ { "database": "UniProtKB", "id": "Q8C0D7", "url": "https://www.uniprot.org/uniprotkb/Q8C0D7" } ], "pmid": "" }, { "name": "histone acetyltransferase complex", "id": "GO:0000123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000123", "evidence": [ { "database": "UniProtKB", "id": "Q8C0D7", "url": "https://www.uniprot.org/uniprotkb/Q8C0D7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.13" }, { "uniprot_canonical_ac": "Q8C863-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 864, "chemical_mass": 98994.0, "gene_names": "Itch;6720481N21Rik;8030492O04Rik;A130065M08;AIP4;C230047C07Rik;Itch", "protein_name": "E3 ubiquitin-protein ligase Itchy", "disease": [ { "disease_id": "DOID:0050477", "name": "Liddle syndrome", "description": "A renal tubular transport disease that is characterized by hypertension and hypokalemia caused by dysregulation of epithelial sodium channels causing over expression of the channel.", "url": "https://disease-ontology.org/term/DOID:0050477", "evidence": [ { "id": "0050477", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050477" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of receptor catabolic process", "id": "GO:2000646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000646", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "receptor internalization", "id": "GO:0031623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031623", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "proteasome-mediated ubiquitin-dependent protein catabolic process", "id": "GO:0043161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043161", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "negative regulation of canonical NF-kappaB signal transduction", "id": "GO:0043124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043124", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "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": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "protein polyubiquitination", "id": "GO:0000209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000209", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "negative regulation of JNK cascade", "id": "GO:0046329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046329", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "protein autoubiquitination", "id": "GO:0051865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051865", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "protein K48-linked ubiquitination", "id": "GO:0070936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070936", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "protein K63-linked ubiquitination", "id": "GO:0070534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070534", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "negative regulation of defense response to virus", "id": "GO:0050687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050687", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "positive regulation of T cell anergy", "id": "GO:0002669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002669", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "protein monoubiquitination", "id": "GO:0006513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006513", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "protein K29-linked ubiquitination", "id": "GO:0035519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035519", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "negative regulation of alpha-beta T cell proliferation", "id": "GO:0046642", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046642", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "regulation of protein deubiquitination", "id": "GO:0090085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090085", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "negative regulation of cytoplasmic pattern recognition receptor signaling pathway", "id": "GO:0039532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0039532", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "CXCL12-activated CXCR4 signaling pathway", "id": "GO:0038160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038160", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "cytoplasmic pattern recognition receptor signaling pathway", "id": "GO:0002753", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002753", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "protein branched polyubiquitination", "id": "GO:0141198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141198", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "ubiquitin ligase complex", "id": "GO:0000151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000151", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" } ], "molecular_function": [ { "name": "ribonucleoprotein complex binding", "id": "GO:0043021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043021", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "arrestin family protein binding", "id": "GO:1990763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990763", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "ubiquitin-ubiquitin ligase activity", "id": "GO:0034450", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034450", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "ubiquitin-protein transferase activity", "id": "GO:0004842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004842", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "ligase activity", "id": "GO:0016874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016874", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "ubiquitin-like protein ligase binding", "id": "GO:0044389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044389", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "CXCR chemokine receptor binding", "id": "GO:0045236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045236", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8C863-1", "start_pos": "178", "end_pos": "178", "site_lbl": "Asn178", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VSTNGSEDPEVAASGENKR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 178, "start_aa": "Asn", "end_pos": 178, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn178", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q8C863-1", "start_pos": "222", "end_pos": "222", "site_lbl": "Thr222", "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": 222, "start_aa": "Thr", "end_pos": 222, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr222", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" }, { "database": "iPTMnet", "id": "Q8C863", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C863" }, { "database": "PubMed", "id": "32513985", "url": "https://glygen.org/publication/PubMed/32513985" }, { "database": "PubMed", "id": "16446428", "url": "https://glygen.org/publication/PubMed/16446428" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "No loss of MAPK8-mediated phosphorylation. Greatly reduced MAPK8-mediated phosphorylation; when associated with A-199 or A-232. Completely abolishes MAPK8-mediated phosphorylation; when associated with A-199 and A-232.", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" }, { "database": "PubMed", "id": "16446428", "url": "https://glygen.org/publication/PubMed/16446428" } ] }, { "sequence_org": "T", "sequence_mut": "D", "comment": "Inhibits in vitro interaction between ITCHHECT domain and PRR/WW motifs. More sensitive to in vitro proteolysis.", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" }, { "database": "PubMed", "id": "16446428", "url": "https://glygen.org/publication/PubMed/16446428" } ] } ] }, { "uniprot_canonical_ac": "Q8C863-1", "start_pos": "199", "end_pos": "199", "site_lbl": "Ser199", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" }, { "database": "iPTMnet", "id": "Q8C863", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C863" }, { "database": "PubMed", "id": "32513985", "url": "https://glygen.org/publication/PubMed/32513985" }, { "database": "PubMed", "id": "16446428", "url": "https://glygen.org/publication/PubMed/16446428" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No loss of MAPK8-mediated phosphorylation and no effect on ligase activity. Almost complete inactivation of ligase activity; when associated with A-232. Greatly reduced MAPK8-mediated phosphorylation; when associated with A-222 or A-232. Completely abolishes MAPK8-mediated phosphorylation; when associated with A-222 and A-232.", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" }, { "database": "PubMed", "id": "16446428", "url": "https://glygen.org/publication/PubMed/16446428" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "More sensitive to in vitro proteolysis.", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" }, { "database": "PubMed", "id": "16446428", "url": "https://glygen.org/publication/PubMed/16446428" } ] } ] }, { "uniprot_canonical_ac": "Q8C863-1", "start_pos": "232", "end_pos": "232", "site_lbl": "Ser232", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" }, { "database": "iPTMnet", "id": "Q8C863", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C863" }, { "database": "PubMed", "id": "32513985", "url": "https://glygen.org/publication/PubMed/32513985" }, { "database": "PubMed", "id": "16446428", "url": "https://glygen.org/publication/PubMed/16446428" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No loss of MAPK8-mediated phosphorylation and no effect on ligase activity. Almost complete inactivation of ligase activity; when associated with A-199. Greatly reduced MAPK8-mediated phosphorylation; when associated with A-199 or A-222. Completely abolishes MAPK8-mediated phosphorylation; when associated with A-199 and A-222.", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" }, { "database": "PubMed", "id": "16446428", "url": "https://glygen.org/publication/PubMed/16446428" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "More sensitive to in vitro proteolysis.", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" }, { "database": "PubMed", "id": "16446428", "url": "https://glygen.org/publication/PubMed/16446428" } ] } ] }, { "uniprot_canonical_ac": "Q8C863-1", "start_pos": "346", "end_pos": "346", "site_lbl": "Thr346", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ] } ] }, { "uniprot_canonical_ac": "Q8C863-1", "start_pos": "381", "end_pos": "381", "site_lbl": "Tyr381", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P39688-1", "kinase_gene_name": "Fyn", "evidence": [ { "database": "iPTMnet", "id": "Q8C863", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C863" }, { "database": "PubMed", "id": "16387660", "url": "https://glygen.org/publication/PubMed/16387660" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ] } ] }, { "uniprot_canonical_ac": "Q8C863-1", "start_pos": "411", "end_pos": "411", "site_lbl": "Ser411", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ] } ] }, { "uniprot_canonical_ac": "Q8C863-1", "start_pos": "528", "end_pos": "528", "site_lbl": "Ser528", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SFS->NFS).", "chr_id": "2", "chr_pos": "155048220", "evidence": [ { "id": "rs3388597020", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388597020" } ] } ] }, { "uniprot_canonical_ac": "Q8C863-1", "start_pos": "832", "end_pos": "832", "site_lbl": "Cys832", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Loss of ubiquitin protein ligase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" }, { "database": "PubMed", "id": "10940313", "url": "https://glygen.org/publication/PubMed/10940313" } ] } ] } ], "record_id": "batch.mouse.13" } ]