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The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:2986", "name": "IgA glomerulonephritis", "description": "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.", "url": "https://disease-ontology.org/term/DOID:2986", "evidence": [ { "id": "2986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2986" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:321", "name": "HTLV-1-associated myelopathy/tropical spastic paraparesis", "description": "A viral infectious disease that results in inflammation located in spinal cord, has_material_basis_in human T-cell leukemia virus type 1 (Deltaretrovirus priTlym1), which is transmitted by sexual contact, and transmitted by breast feeding. The infection has symptom spastic weakness of both legs, has symptom muscle stiffness, has symptom sensory disturbance, and has symptom spasms.", "url": "https://disease-ontology.org/term/DOID:321", "evidence": [ { "id": "321", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:321" } ], "weight": 0.0 }, { "disease_id": "DOID:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], "weight": 0.0 }, { "disease_id": "DOID:3324", "name": "mood disorder", "description": "A cognitive disorder that involves a disturbance in mood as the predominant underlying feature.", "url": "https://disease-ontology.org/term/DOID:3324", "evidence": [ { "id": "3324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3324" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "weight": 0.0 }, { "disease_id": "DOID:4483", "name": "rhinitis", "description": "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.", "url": "https://disease-ontology.org/term/DOID:4483", "evidence": [ { "id": "4483", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4483" } ], "weight": 0.0 }, { "disease_id": "DOID:5162", "name": "arteriolosclerosis", "description": "An arteriosclerosis that is characterized by thickening of the wall of the small arteries and arterioles, caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy, and results in lumen narrowing and tissue ischemia.", "url": "https://disease-ontology.org/term/DOID:5162", "evidence": [ { "id": "5162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5162" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:6195", "name": "conjunctivitis", "description": "A conjunctival disease characterized by an inflammation of the conjunctiva, the outermost layer of the eye and the inner surface of the eyelids.", "url": "https://disease-ontology.org/term/DOID:6195", "evidence": [ { "id": "6195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6195" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:8354", "name": "complement component 3 deficiency", "description": "A complement deficiency that is characterized by deficiency of complement component 3 that increases susceptibility to infection and autoimmune diseases and has_material_basis_in autosomal recessive inheritance of mutation in the C3 gene on chromosome 19p13.3, has_symptom recurrent bacterial infections.", "url": "https://disease-ontology.org/term/DOID:8354", "evidence": [ { "id": "8354", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8354" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 }, { "disease_id": "DOID:9282", "name": "ocular hypertension", "description": "An eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss.", "url": "https://disease-ontology.org/term/DOID:9282", "evidence": [ { "id": "9282", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9282" } ], "weight": 0.0 }, { "disease_id": "DOID:9408", "name": "acute myocardial infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:9408", "evidence": [ { "id": "9408", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9408" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "serine-type endopeptidase inhibitor activity", "id": "GO:0004867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004867", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IMB2", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IMB2" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IMB2", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IMB2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.5" }, { "uniprot_canonical_ac": "A0A0R4IMF1-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IMF1", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IMF1" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 246, "chemical_mass": 27173.0, "gene_names": "ankrd53;ankrd53;si:ch211-1o7.2", "protein_name": "", "disease": [], "biological_process": [ { "name": "regulation of mitotic cytokinesis", "id": "GO:1902412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902412", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IMF1", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IMF1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.5" }, { "uniprot_canonical_ac": "A0A0R4IMF6-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IMF6", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IMF6" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 616, "chemical_mass": 69413.0, "gene_names": "eif4ba;eif4ba;eif4b", "protein_name": "Eukaryotic translation initiation factor 4B", "disease": [ { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:1470", "name": "major depressive disorder", "description": "A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality.", "url": "https://disease-ontology.org/term/DOID:1470", "evidence": [ { "id": "1470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1470" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IMF6", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IMF6" } ], "pmid": "" }, { "name": "translation initiation factor activity", "id": "GO:0003743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003743", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IMF6", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IMF6" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IMF6", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IMF6" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IMF6", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IMF6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.5" }, { "uniprot_canonical_ac": "A0A0R4IMI8-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IMI8", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IMI8" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 322, "chemical_mass": 37102.0, "gene_names": "pkdc;pkdc", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.5" }, { "uniprot_canonical_ac": "A0A0R4IMJ9-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IMJ9", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IMJ9" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 450, "chemical_mass": 51049.0, "gene_names": "n4bp2l2;n4bp2l2", "protein_name": "", "disease": [], "biological_process": [ { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IMJ9", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IMJ9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IMJ9", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IMJ9" } ], "pmid": "" } ], "molecular_function": [ { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IMJ9", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IMJ9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.5" }, { "uniprot_canonical_ac": "A0A0R4IMM1-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IMM1", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IMM1" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 626, "chemical_mass": 67900.0, "gene_names": "zgc:175136", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.5" }, { "uniprot_canonical_ac": "A0A0R4IMN7-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IMN7", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IMN7" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 372, "chemical_mass": 42703.0, "gene_names": "zgc:101130", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IMN7", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IMN7" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IMN7", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IMN7" } ], "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": "A0A0R4IMN7", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IMN7" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IMN7", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IMN7" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulatory region sequence-specific DNA binding", "id": "GO:0000977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000977", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IMN7", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IMN7" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IMN7", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IMN7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.5" }, { "uniprot_canonical_ac": "A0A0R4IMZ6-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IMZ6", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IMZ6" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 173, "chemical_mass": 19442.0, "gene_names": "ecm1a;ecm1a", "protein_name": "", "disease": [ { "disease_id": "DOID:14498", "name": "lipoid proteinosis", "description": "", "url": "https://disease-ontology.org/term/DOID:14498", "evidence": [ { "id": "14498", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14498" } ], "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": "A0A0R4IMZ6", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IMZ6" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IMZ6", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IMZ6" } ], "pmid": "" } ], 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"name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NXG3", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NXG3" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 383, "chemical_mass": 43810.0, "gene_names": "krt96;fb17f05;krt96;si:rp71-1n18.1;wu:fb17f05", "protein_name": "", "disease": [ { "disease_id": "DOID:0050428", "name": "nonepidermolytic palmoplantar keratoderma", "description": "A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles.", "url": "https://disease-ontology.org/term/DOID:0050428", "evidence": [ { "id": "0050428", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050428" } ], "weight": 0.0 }, { "disease_id": "DOID:0050448", "name": "white sponge nevus", "description": "A skin disease characterized by a defect in the normal process of keratinization of the mucosa.", "url": "https://disease-ontology.org/term/DOID:0050448", "evidence": [ { "id": "0050448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050448" } ], "weight": 0.0 }, { "disease_id": "DOID:0050449", "name": "pachyonychia congenita", "description": "A syndrome that is characterized by hypertrophic nails and hyperkeratosis of the hands and feet and has_material_basis_in gene mutations that result in changes in keratin.", "url": "https://disease-ontology.org/term/DOID:0050449", "evidence": [ { "id": "0050449", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050449" } ], "weight": 0.0 }, { "disease_id": "DOID:0060735", "name": "generalized severe epidermolysis bullosa simplex 1A", "description": "An epidermolysis bullosa simplex characterized by generalized non-scarring skin blistering that often occurs in clusters, progressive hyperkeratosis of the palms and soles, clumping of keratin filaments in basal epidermal cells and that has_material_basis_in mutation in the Keratin 14 (KRT14) gene on chromosome 17q21 either the KRT5 or KRT14 genes. This is the most severe of the epidermolysis bullosa simplex types and may result in neonatal or infant lethality in some cases.", "url": "https://disease-ontology.org/term/DOID:0060735", "evidence": [ { "id": "0060735", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060735" } ], "weight": 0.0 }, { "disease_id": "DOID:0080670", "name": "Meesmann corneal dystrophy 1", "description": "A Messmann corneal dystrophy that is characterized by the presence of multitudinous microcysts within the anterior epithelium and that has_material_basis_in heterozygous mutation in the KRT12 gene on chromosome 17q21.", "url": "https://disease-ontology.org/term/DOID:0080670", "evidence": [ { "id": "0080670", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080670" } ], "weight": 0.0 }, { "disease_id": "DOID:0081288", "name": "white sponge nevus 2", "description": "A white sponge nevus that has_material_basis_in heterozygous mutation in the KRT13 gene on chromosome 17q21.", "url": "https://disease-ontology.org/term/DOID:0081288", "evidence": [ { "id": "0081288", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081288" } ], "weight": 0.0 }, { "disease_id": "DOID:0111342", "name": "dermatopathia pigmentosa reticularis", "description": "An ectodermal dysplasia characterized by reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy that has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.2.", "url": "https://disease-ontology.org/term/DOID:0111342", "evidence": [ { "id": "0111342", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111342" } ], "weight": 0.0 }, { "disease_id": "DOID:0111528", "name": "Naegeli-Franceschetti-Jadassohn syndrome", "description": "A ectodermal dysplasia characterized by reticulate hyperpigmentation that made fade with age, palmoplantar keratoderma, absence of dermatoglyphics, abnormal sweat function and dental anomalies that has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.2.", "url": "https://disease-ontology.org/term/DOID:0111528", "evidence": [ { "id": "0111528", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111528" } ], "weight": 0.0 }, { "disease_id": "DOID:0111556", "name": "steatocystoma multiplex", "description": "A sebaceous gland disease characterized by the presence of multiple benign sebaceous cysts that has_material_basis_in heterozygous mutation in the KRT17 gene on chromosome 17q21.2.", "url": "https://disease-ontology.org/term/DOID:0111556", "evidence": [ { "id": "0111556", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111556" } ], "weight": 0.0 }, { "disease_id": "DOID:0111709", "name": "focal nonepidermolytic palmoplantar keratoderma 1", "description": "A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT16 gene on chromosome 17q21.2.", "url": "https://disease-ontology.org/term/DOID:0111709", "evidence": [ { "id": "0111709", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111709" } ], "weight": 0.0 }, { "disease_id": "DOID:2121", "name": "ectodermal dysplasia", "description": "A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.", "url": "https://disease-ontology.org/term/DOID:2121", "evidence": [ { "id": "2121", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2121" } ], "weight": 0.0 }, { "disease_id": "DOID:2566", "name": "corneal dystrophy", "description": "", "url": "https://disease-ontology.org/term/DOID:2566", "evidence": [ { "id": "2566", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2566" } ], "weight": 0.0 }, { "disease_id": "DOID:4644", "name": "epidermolysis bullosa simplex", "description": "An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin.", "url": "https://disease-ontology.org/term/DOID:4644", "evidence": [ { "id": "4644", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4644" } ], "weight": 0.0 }, { "disease_id": "DOID:7134", "name": "esophagus small cell carcinoma", "description": "", "url": "https://disease-ontology.org/term/DOID:7134", "evidence": [ { "id": "7134", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7134" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NXG3", "url": 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[], "cellular_component": [ { "name": "mitochondrial large ribosomal subunit", "id": "GO:0005762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005762", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NYL4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NYL4" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NYL4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NYL4" } ], "pmid": "" } ], "molecular_function": [ { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NYL4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NYL4" } ], "pmid": "" }, { "name": "structural constituent of ribosome", "id": "GO:0003735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003735", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NYL4", "url": 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