{ "uniprot_canonical_ac": "P35242-1", "uniprot_ac": "P35242", "uniprot_id": "SFTPA_MOUSE", "mass": { "chemical_mass": 26157.0, "monoisotopic_mass": 26157.0 }, "refseq": { "ac": "NP_075623", "name": "pulmonary surfactant-associated protein A precursor", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_075623" }, "gene_names": [ { "name": "Sftpa1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P35242", "id": "P35242" }, { "name": "Sftp-1; Sftp1; SP-A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_075623", "id": "NP_075623" }, { "name": "Sftp-1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P35242", "id": "P35242" }, { "name": "Sftp1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P35242", "id": "P35242" }, { "name": "Sftpa1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_075623", "id": "NP_075623" }, { "name": "Sftpa", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P35242", "id": "P35242" } ], "protein_names": [ { "name": "Pulmonary surfactant-associated protein A", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P35242" }, { "name": "PSAP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P35242" }, { "name": "PSP-A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P35242" }, { "name": "SP-A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P35242" }, { "name": "pulmonary surfactant-associated protein A precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_075623", "id": "NP_075623" }, { "name": "pulmonary surfactant-associated protein A; PSAP; PSP-A; surfactant pulmonary associated protein A1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_075623", "id": "NP_075623" } ], "function": [ { "annotation": "In presence of calcium ions, it binds to surfactant phospholipids and contributes to lower the surface tension at the air-liquid interface in the alveoli of the mammalian lung and is essential for normal respiration. Enhances the expression of MYO18A/SP-R210 on alveolar macrophages (PubMed:25965346).", "evidence": [ { "database": "UniProtKB", "id": "P35242", "url": "https://www.uniprot.org/uniprot/P35242#function" }, { "database": "PubMed", "id": "25965346", "url": "https://glygen.org/publication/PubMed/25965346" } ] }, { "annotation": "Regulatory roles of SP-A and exosomes in pneumonia-induced acute lung and kidney injuries. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_075623", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_075623" }, { "database": "PubMed", "id": "37256132", "url": "https://glygen.org/publication/PubMed/37256132" } ] }, { "annotation": "Surfactant Protein A can Affect the Surface Tension of the Eustachian Tube and Macrophage Migration.", "evidence": [ { "database": "RefSeq", "id": "NP_075623", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_075623" }, { "database": "PubMed", "id": "36102297", "url": "https://glygen.org/publication/PubMed/36102297" } ] }, { "annotation": "Surfactant protein a attenuates generalized and localized neuroinflammation in neonatal mice.", "evidence": [ { "database": "RefSeq", "id": "NP_075623", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_075623" }, { "database": "PubMed", "id": "36871846", "url": "https://glygen.org/publication/PubMed/36871846" } ] } ], "disease": [ { "disease_id": "DOID:0050127", "recommended_name": { "id": "DOID:0050127", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/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." }, "synonyms": [], "evidence": [ { "id": "0050127", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050127" } ] }, { "disease_id": "DOID:0050156", "recommended_name": { "id": "DOID:0050156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050156", "name": "idiopathic pulmonary fibrosis", "description": "A pulmonary fibrosis that is characterized by scarring of the lung." }, "synonyms": [ { "id": "DOID:0050156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050156", "name": "FIBROCYSTIC PULMONARY DYSPLASIA", "description": "" }, { "id": "DOID:0050156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050156", "name": "IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL", "description": "" }, { "id": "DOID:0050156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050156", "name": "cryptogenic fibrosing alveolitis", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "interstitial lung disease 2", "description": "A nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause." }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "CFA", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "ILD2", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "IPF", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "UIP", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "cryptogenic fibrosing alveolitis", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "fibrocystic pulmonary dysplasia", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "fibrosing alveolitis, cryptogenic", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "idiopathic pulmonary fibrosis, familial", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "interstitial pneumonitis, usual", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "usual interstitial pneumonia", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "Hamman-rich disease", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "familial idiopathic pulmonary fibrosis", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "fibrosing alveolitis", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "pulmonary fibrosis, idiopathic", "description": "" }, { "id": "MIM:178500", "resource": "MIM", "url": "https://www.omim.org/entry/178500", "name": "Interstitial lung disease 2", "description": "Interstitial lung disease 2" } ], "evidence": [ { "id": "0050156", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050156" } ] }, { "disease_id": "DOID:11394", "recommended_name": { "id": "DOID:11394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11394", "name": "adult respiratory distress syndrome", "description": "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia." }, "synonyms": [ { "id": "DOID:11394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11394", "name": "ARDS", "description": "" }, { "id": "DOID:11394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11394", "name": "Non-cardiogenic pulmonary edema", "description": "" }, { "id": "DOID:11394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11394", "name": "Shock lung", "description": "" }, { "id": "DOID:11394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11394", "name": "adult RDS", "description": "" }, { "id": "DOID:11394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11394", "name": "acute respiratory distress syndrome", "description": "" } ], "evidence": [ { "id": "11394", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11394" } ] }, { "disease_id": "DOID:11396", "recommended_name": { "id": "DOID:11396", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/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." }, "synonyms": [], "evidence": [ { "id": "11396", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11396" } ] }, { "disease_id": "DOID:11650", "recommended_name": { "id": "DOID:11650", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/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." }, "synonyms": [ { "id": "DOID:11650", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11650", "name": "Perinatal bronchopulmonary dysplasia", "description": "" }, { "id": "DOID:11650", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11650", "name": "neonatal chronic respiratory disease", "description": "" }, { "id": "DOID:11650", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11650", "name": "Bronchopulmonary dysplasia of newborn", "description": "" }, { "id": "DOID:11650", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11650", "name": "Chronic lung disease of prematurity", "description": "" }, { "id": "DOID:11650", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11650", "name": "Neonatal chronic lung disease", "description": "" }, { "id": "DOID:11650", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11650", "name": "Respiratory insufficiency", "description": "" } ], "evidence": [ { "id": "11650", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ] }, { "disease_id": "DOID:12120", "recommended_name": { "id": "DOID:12120", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/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." }, "synonyms": [ { "id": "MONDO:0024465", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024465", "name": "surfactant metabolism dysfunction, pulmonary, 2", "description": "" }, { "id": "MONDO:0024465", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024465", "name": "SMDP2", "description": "" }, { "id": "MONDO:0024465", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024465", "name": "desquamative interstitial pneumonitis due to surfactant Protein C deficiency", "description": "" }, { "id": "MONDO:0024465", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024465", "name": "interstitial lung disease due to surfactant Protein C deficiency", "description": "" }, { "id": "MONDO:0024465", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024465", "name": "pulmonary alveolar proteinosis, congenital, 2", "description": "" }, { "id": "MONDO:0024465", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024465", "name": "surfactant metabolism dysfunction, pulmonary, 2", "description": "" }, { "id": "MONDO:0010424", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010424", "name": "surfactant metabolism dysfunction, pulmonary, 4", "description": "" }, { "id": "MONDO:0010424", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010424", "name": "surfactant metabolism dysfunction, pulmonary, 4", "description": "" }, { "id": "MONDO:0010424", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010424", "name": "surfactant metabolism dysfunction, pulmonary, type 4", "description": "" }, { "id": "MONDO:0010424", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010424", "name": "Csf2Ra deficiency", "description": "" }, { "id": "MONDO:0010424", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010424", "name": "Pap due to Csf2Ra deficiency", "description": "" }, { "id": "MONDO:0010424", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010424", "name": "SMDP4", "description": "" }, { "id": "MONDO:0010424", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010424", "name": "pulmonary alveolar proteinosis, congenital, 4", "description": "" }, { "id": "MONDO:0012582", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012582", "name": "interstitial lung disease due to ABCA3 deficiency", "description": "Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea." }, { "id": "MONDO:0012582", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012582", "name": "interstitial lung disease due to ABCA3 deficiency", "description": "" }, { "id": "MONDO:0012582", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012582", "name": "interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency", "description": "" }, { "id": "MONDO:0012582", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012582", "name": "surfactant metabolism dysfunction, pulmonary, type 3", "description": "" }, { "id": "MONDO:0012582", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012582", "name": "SMDP3", "description": "" }, { "id": "MONDO:0012582", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012582", "name": "pulmonary alveolar proteinosis, congenital, 3", "description": "" }, { "id": "MONDO:0012582", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012582", "name": "surfactant metabolism dysfunction, pulmonary, 3", "description": "" }, { "id": "MONDO:0013712", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013712", "name": "surfactant metabolism dysfunction, pulmonary, 5", "description": "Any hereditary pulmonary alveolar proteinosis in which the cause of the disease is a mutation in the CSF2RB gene." }, { "id": "MONDO:0013712", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013712", "name": "CSF2RB hereditary pulmonary alveolar proteinosis", "description": "" }, { "id": "MONDO:0013712", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013712", "name": "hereditary pulmonary alveolar proteinosis caused by mutation in CSF2RB", "description": "" }, { "id": "MONDO:0013712", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013712", "name": "surfactant metabolism dysfunction, pulmonary, 5", "description": "" }, { "id": "MONDO:0013712", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013712", "name": "surfactant metabolism dysfunction, pulmonary, type 5", "description": "" }, { "id": "MONDO:0013712", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013712", "name": "Csf2Rb deficiency", "description": "" }, { "id": "MONDO:0013712", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013712", "name": "Pap due to Csf2Rb deficiency", "description": "" }, { "id": "MONDO:0013712", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013712", "name": "SMDP5", "description": "" }, { "id": "MONDO:0013712", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013712", "name": "pulmonary alveolar proteinosis 5", "description": "" }, { "id": "MONDO:0009929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009929", "name": "neonatal acute respiratory distress due to SP-B deficiency", "description": "" }, { "id": "MONDO:0009929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009929", "name": "SMDP1", "description": "" }, { "id": "MONDO:0009929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009929", "name": "interstitial lung disease due to surfactant Protein B deficiency", "description": "" }, { "id": "MONDO:0009929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009929", "name": "neonatal acute respiratory distress due to surfactant protein B deficiency", "description": "" }, { "id": "MONDO:0009929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009929", "name": "pulmonary alveolar proteinosis, congenital, 1", "description": "" }, { "id": "MONDO:0009929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009929", "name": "surfactant metabolism dysfunction, pulmonary, 1", "description": "" }, { "id": "MONDO:0009929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009929", "name": "surfactant metabolism dysfunction, pulmonary, type 1", "description": "" }, { "id": "MONDO:0009929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009929", "name": "interstitial lung disease, nonspecific, due to surfactant Protein B deficiency", "description": "" }, { "id": "MONDO:0009929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009929", "name": "pulmonary surfactant protein B, deficiency of", "description": "" }, { "id": "MIM:610913", "resource": "MIM", "url": "https://www.omim.org/entry/610913", "name": "Pulmonary surfactant metabolism dysfunction 2", "description": "Pulmonary surfactant metabolism dysfunction 2" }, { "id": "MIM:300770", "resource": "MIM", "url": "https://www.omim.org/entry/300770", "name": "Pulmonary surfactant metabolism dysfunction 4", "description": "Pulmonary surfactant metabolism dysfunction 4" }, { "id": "MIM:610921", "resource": "MIM", "url": "https://www.omim.org/entry/610921", "name": "Pulmonary surfactant metabolism dysfunction 3", "description": "Pulmonary surfactant metabolism dysfunction 3" }, { "id": "MIM:614370", "resource": "MIM", "url": "https://www.omim.org/entry/614370", "name": "Pulmonary surfactant metabolism dysfunction 5", "description": "Pulmonary surfactant metabolism dysfunction 5" }, { "id": "MIM:265120", "resource": "MIM", "url": "https://www.omim.org/entry/265120", "name": "Pulmonary surfactant metabolism dysfunction 1", "description": "Pulmonary surfactant metabolism dysfunction 1" } ], "evidence": [ { "id": "12120", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12120" } ] }, { "disease_id": "DOID:12716", "recommended_name": { "id": "DOID:12716", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12716", "name": "newborn respiratory distress syndrome", "description": "A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts." }, "synonyms": [ { "id": "DOID:12716", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12716", "name": "HMD - Hyaline membrane disease", "description": "" }, { "id": "DOID:12716", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12716", "name": "Neonatal respiratory Distress syndrome", "description": "" }, { "id": "DOID:12716", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12716", "name": "hyaline membrane disease", "description": "" }, { "id": "DOID:12716", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12716", "name": "pulmonary hyaline membrane disease", "description": "" }, { "id": "DOID:12716", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12716", "name": "pulmonary hypoperfusion syndrome of newborn", "description": "" }, { "id": "DOID:12716", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12716", "name": "respiratory distress syndrome of newborn", "description": "" }, { "id": "MONDO:0009971", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009971", "name": "respiratory distress syndrome in premature infants", "description": "Infant acute respiratory distress syndrome is a lung disorder that affects premature infants caused by developmental insufficiency of surfactant production and structural immaturity of the lungs. The symptoms usually appear shortly after birth and may include tachypnea, tachycardia, chest wall retractions (recession), expiratory grunting, nasal flaring and cyanosis during breathing efforts." }, { "id": "MONDO:0009971", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009971", "name": "RDS", "description": "" }, { "id": "MONDO:0009971", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009971", "name": "respiratory distress syndrome", "description": "" }, { "id": "MONDO:0009971", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009971", "name": "RDS of prematurity", "description": "" }, { "id": "MONDO:0009971", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009971", "name": "respiratory distress syndrome in premature infants", "description": "" }, { "id": "MONDO:0009971", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009971", "name": "IRDS", "description": "" }, { "id": "MONDO:0009971", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009971", "name": "NRDS", "description": "" }, { "id": "MONDO:0009971", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009971", "name": "RDS - infants", "description": "" }, { "id": "MONDO:0009971", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009971", "name": "hyaline Membrane disease", "description": "" }, { "id": "MONDO:0009971", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009971", "name": "hyaline Membrane disease, formerly", "description": "" }, { "id": "MONDO:0009971", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009971", "name": "infantile respiratory distress syndrome", "description": "" }, { "id": "MONDO:0009971", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009971", "name": "respiratory distress syndrome, infant", "description": "" }, { "id": "MIM:267450", "resource": "MIM", "url": "https://www.omim.org/entry/267450", "name": "Respiratory distress syndrome in premature infants", "description": "Respiratory distress syndrome in premature infants" } ], "evidence": [ { "id": "12716", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12716" } ] }, { "disease_id": "DOID:1273", "recommended_name": { "id": "DOID:1273", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1273", "name": "respiratory syncytial virus infectious disease", "description": "A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress." }, "synonyms": [ { "id": "DOID:1273", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1273", "name": "RSV", "description": "" }, { "id": "DOID:1273", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1273", "name": "respiratory syncytial virus", "description": "" } ], "evidence": [ { "id": "1273", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1273" } ] }, { "disease_id": "DOID:13406", "recommended_name": { "id": "DOID:13406", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/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." }, "synonyms": [ { "id": "DOID:13406", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13406", "name": "lung Sarcoidosis", "description": "" } ], "evidence": [ { "id": "13406", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13406" } ] }, { "disease_id": "DOID:1485", "recommended_name": { "id": "DOID:1485", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs." }, "synonyms": [ { "id": "DOID:1485", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1485", "name": "CF", "description": "" }, { "id": "DOID:1485", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1485", "name": "mucoviscidosis", "description": "" }, { "id": "MONDO:0009061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009061", "name": "cystic fibrosis", "description": "Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity." }, { "id": "MONDO:0009061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009061", "name": "CF", "description": "" }, { "id": "MONDO:0009061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009061", "name": "cystic fibrosis", "description": "" }, { "id": "MONDO:0009061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009061", "name": "cystic fibrosis lung disease, modifier of", "description": "" }, { "id": "MONDO:0009061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009061", "name": "mucoviscidosis", "description": "" }, { "id": "MONDO:0009061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009061", "name": "pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis", "description": "" }, { "id": "MIM:219700", "resource": "MIM", "url": "https://www.omim.org/entry/219700", "name": "Cystic fibrosis", "description": "Cystic fibrosis" } ], "evidence": [ { "id": "1485", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ] }, { "disease_id": "DOID:2841", "recommended_name": { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/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." }, "synonyms": [ { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "Exercise induced asthma", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "bronchial hyperreactivity", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "chronic obstructive asthma", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "chronic obstructive asthma with acute exacerbation", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "chronic obstructive asthma with status asthmaticus", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "exercise-induced asthma", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "inherited susceptibility to asthma", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, nocturnal, susceptibility to", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, bronchial", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, diminished response to Antileukotriene treatment 1N", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, protection against", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, susceptibility to", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma-related traits, susceptibility to", "description": "" }, { "id": "MIM:600807", "resource": "MIM", "url": "https://www.omim.org/entry/600807", "name": "Asthma", "description": "Asthma" } ], "evidence": [ { "id": "2841", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ] }, { "disease_id": "DOID:2957", "recommended_name": { "id": "DOID:2957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/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." }, "synonyms": [], "evidence": [ { "id": "2957", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ] }, { "disease_id": "DOID:3082", "recommended_name": { "id": "DOID:3082", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/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." }, "synonyms": [ { "id": "DOID:3082", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3082", "name": "ILD", "description": "" } ], "evidence": [ { "id": "3082", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3082" } ] }, { "disease_id": "DOID:3083", "recommended_name": { "id": "DOID:3083", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/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." }, "synonyms": [ { "id": "DOID:3083", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3083", "name": "COLD", "description": "" }, { "id": "DOID:3083", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3083", "name": "COPD", "description": "" }, { "id": "DOID:3083", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3083", "name": "chronic obstructive airway disease", "description": "" }, { "id": "DOID:3083", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3083", "name": "chronic obstructive lung disease", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "chronic obstructive pulmonary disease", "description": "A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of chronic obstructive pulmonary disease are chronic obstructive bronchitis and emphysema." }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "COPD", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "COPD, chronic obstructive pulmonary disease", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "chronic obstructive airway disease", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "chronic obstructive airways disease", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "chronic obstructive lung disease", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "chronic obstructive pulmonary disease (COPD)", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "chronic obstructive pulmonary disease, (COPD)", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "cold", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "cold (chronic obstructive lung disease)", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "disease (COPD), chronic obstructive", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "obstructive lung disease, chronic", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "obstructive pulmonary disease (COPD), chronic", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "pulmonary disease (COPD), chronic obstructive", "description": "" } ], "evidence": [ { "id": "3083", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ] }, { "disease_id": "DOID:3770", "recommended_name": { "id": "DOID:3770", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/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." }, "synonyms": [ { "id": "DOID:3770", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3770", "name": "Fibrosis of lung", "description": "" } ], "evidence": [ { "id": "3770", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ] }, { "disease_id": "DOID:3827", "recommended_name": { "id": "DOID:3827", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3827", "name": "congenital diaphragmatic hernia", "description": "A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs." }, "synonyms": [ { "id": "DOID:3827", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3827", "name": "Diaphragmatic Hernia", "description": "" }, { "id": "MONDO:0007719", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007719", "name": "diaphragmatic hernia 1", "description": "" }, { "id": "MONDO:0007719", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007719", "name": "diaphragmatic hernia, congenital 1", "description": "" }, { "id": "MONDO:0007719", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007719", "name": "hernia, congenital diaphragmatic 1", "description": "" }, { "id": "MONDO:0007719", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007719", "name": "DIH1", "description": "" }, { "id": "MONDO:0007719", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007719", "name": "diaphragm, complete agenesis of", "description": "" }, { "id": "MONDO:0007719", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007719", "name": "diaphragm, unilateral agenesis of", "description": "" }, { "id": "MONDO:0007719", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007719", "name": "diaphragmatic defect, congenital", "description": "" }, { "id": "MONDO:0007719", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007719", "name": "diaphragmatic hernia, congenital", "description": "" }, { "id": "MONDO:0007719", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007719", "name": "hemidiaphragm, agenesis of", "description": "" }, { "id": "MONDO:0007719", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007719", "name": "hernia, congenital diaphragmatic", "description": "" }, { "id": "MONDO:0009103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009103", "name": "diaphragmatic hernia 2", "description": "" }, { "id": "MONDO:0009103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009103", "name": "diaphragmatic hernia 2", "description": "" }, { "id": "MONDO:0009103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009103", "name": "hernia, congenital diaphragmatic 2", "description": "" }, { "id": "MONDO:0009103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009103", "name": "DIH2", "description": "" }, { "id": "MONDO:0012431", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012431", "name": "diaphragmatic hernia 3", "description": "Any congenital diaphragmatic hernia in which the cause of the disease is a mutation in the ZFPM2 gene." }, { "id": "MONDO:0012431", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012431", "name": "ZFPM2 congenital diaphragmatic hernia", "description": "" }, { "id": "MONDO:0012431", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012431", "name": "congenital diaphragmatic hernia caused by mutation in ZFPM2", "description": "" }, { "id": "MONDO:0012431", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012431", "name": "diaphragmatic hernia 3", "description": "" }, { "id": "MONDO:0012431", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012431", "name": "diaphragmatic hernia type 3", "description": "" }, { "id": "MONDO:0012431", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012431", "name": "DIH3", "description": "" }, { "id": "MIM:610187", "resource": "MIM", "url": "https://www.omim.org/entry/610187", "name": "Diaphragmatic hernia 3", "description": "Diaphragmatic hernia 3" } ], "evidence": [ { "id": "3827", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3827" } ] }, { "disease_id": "DOID:552", "recommended_name": { "id": "DOID:552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/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." }, "synonyms": [ { "id": "DOID:552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:552", "name": "acute pneumonia", "description": "" } ], "evidence": [ { "id": "552", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:552" } ] }, { "disease_id": "DOID:841", "recommended_name": { "id": "DOID:841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/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." }, "synonyms": [ { "id": "DOID:841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:841", "name": "alveolitis", "description": "" }, { "id": "DOID:841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:841", "name": "hypersensitivity pneumonitis", "description": "" } ], "evidence": [ { "id": "841", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:841" } ] }, { "disease_id": "DOID:850", "recommended_name": { "id": "DOID:850", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/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." }, "synonyms": [], "evidence": [ { "id": "850", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:850" } ] }, { "disease_id": "DOID:874", "recommended_name": { "id": "DOID:874", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:874", "name": "bacterial pneumonia", "description": "A pneumonia involving inflammation of the lungs caused by bacteria." }, "synonyms": [ { "id": "DOID:874", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:874", "name": "Pneumonia due to other gram-negative bacteria", "description": "" }, { "id": "DOID:874", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:874", "name": "gram-negative pneumonia", "description": "" } ], "evidence": [ { "id": "874", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:874" } ] }, { "disease_id": "DOID:9970", "recommended_name": { "id": "DOID:9970", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/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." }, "synonyms": [ { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "inherited obesity", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "genetic obesity", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "genetic obesity (disease)", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "leanness, inherited, autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "monogenic obesity", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, association with, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, early-onset, susceptibility to, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, late-onset, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, mild, early-onset, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, severe, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, severe, and type II diabetes, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, susceptibility to, Autosomal recessive", "description": "" }, { "id": "MIM:601665", "resource": "MIM", "url": "https://www.omim.org/entry/601665", "name": "Obesity", "description": "Obesity" } ], "evidence": [ { "id": "9970", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ] } ], "snv": [ { "evidence": [ { "id": "rs3389319607", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389319607" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 207, "end_pos": 207, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYT->KYT).", "chr_id": "14", "chr_pos": "40856277", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N207", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 208, "end_pos": 208, "sequence_org": "Y", "sequence_mut": "H", "comment": "Knockin homozygous mice develop progressive pulmonary fibrosis. The mutant protein is not secreted in bronchoalveolar fluid from mutant mice.", "evidence": [ { "database": "UniProtKB", "id": "P35242", "url": "https://www.uniprot.org/uniprot/P35242" }, { "database": "PubMed", "id": "31601679", "url": "https://glygen.org/publication/PubMed/31601679" } ] } ], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P35242", "url": "https://www.uniprot.org/uniprot/P35242" } ], "common_name": "Mouse" } ], "gene": [ { "name": "Sftpa1", "url": "https://www.uniprot.org/uniprot/P35242", "locus": { "chromosome": "14", "start_pos": 40858409, "end_pos": 40853739, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSMUSG00000021789", "url": "https://www.ensembl.org/id/ENSMUSG00000021789" } ] } } ], "crossref": [ { "id": "ENSMUSG00000021789", "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000021789", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd03591", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd03591", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "20387", "url": "https://www.ncbi.nlm.nih.gov/gene/20387", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "P35242", "url": "https://www.ebi.ac.uk/intact/interactors/id:P35242*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001304", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001304", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR016186", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016186", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR016187", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016187", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR018378", "url": "https://www.ebi.ac.uk/interpro/entry/IPR018378", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR033990", "url": "https://www.ebi.ac.uk/interpro/entry/IPR033990", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "mmu:20387", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:20387", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "109518", "url": "http://www.informatics.jax.org/marker/MGI:109518", "database": "MGI", "categories": [ "Organism-specific" ] }, { "id": "NDRSCLQ", "url": "https://omabrowser.org/oma/group/NDRSCLQ/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "4641030at2759", "url": "http://www.orthodb.org/?query=4641030at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR22803", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR22803", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR22803:SF65", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR22803:SF65", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24024", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24024", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24024:SF13", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24024:SF13", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00059", "url": "http://pfam.xfam.org/family/PF00059", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_P35242", "url": "http://purl.obolibrary.org/obo/PR_P35242", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-MMU-166016", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-166016", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-MMU-391160", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-391160", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-MMU-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-5683826", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-MMU-5686938", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-5686938", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "P35242", "url": "https://www.uniprot.org/uniprot/P35242", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P35242-1", "url": "https://www.uniprot.org/uniprot/P35242-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9CQI1", "url": "https://www.uniprot.org/uniprot/Q9CQI1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9CQI1-1", "url": "https://www.uniprot.org/uniprot/Q9CQI1-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSLGSLAFTLFLTVVAGIKCNGTEVCAGSPGIPGTPGNHGLPGRDGRDGIKGDPGPPGPMGPPGGMPGLPGRDGLPGAPGAPGEHGDKGEPGERGLPGFPAYLDEELQTASYEIKHQILQTMGVLSLQGSMLSVGDKVFSTNGQSVNFDTIREMCTRAGGHIAAPRNPEENEAIASITKKYNTYPYLGVIEGQTPGDFHYLDGASVNYTNWYPGEPRGRGKEKCVEMYTDGKWNDKGCLQYRLAICEF", "length": 248, "header": "sp|P35242-1|SFTPA_MOUSE Isoform 1 of Pulmonary surfactant-associated protein A OS=Mus musculus OX=10090 GN=Sftpa1 PE=1 SV=1 CANONICAL=P35242-1" }, "isoforms": [ { "isoform_ac": "P35242-1", "url": "", "sequence": { "sequence": "MSLGSLAFTLFLTVVAGIKCNGTEVCAGSPGIPGTPGNHGLPGRDGRDGIKGDPGPPGPMGPPGGMPGLPGRDGLPGAPGAPGEHGDKGEPGERGLPGFPAYLDEELQTASYEIKHQILQTMGVLSLQGSMLSVGDKVFSTNGQSVNFDTIREMCTRAGGHIAAPRNPEENEAIASITKKYNTYPYLGVIEGQTPGDFHYLDGASVNYTNWYPGEPRGRGKEKCVEMYTDGKWNDKGCLQYRLAICEF", "length": 248, "header": "sp|P35242-1|SFTPA_MOUSE Isoform 1 of Pulmonary surfactant-associated protein A OS=Mus musculus OX=10090 GN=Sftpa1 PE=1 SV=1 CANONICAL=P35242-1" }, "locus": {} }, { "isoform_ac": "Q9CQI1-1", "url": "", "sequence": { "sequence": "MSLGSLAFTLFLTVVAGIKCNGTEVCAGSPGIPGTPGNHGLPGRDGRDGIKGDPGPPGPMGPPGGMPGLPGRDGLPGAPGAPGEHGDKGEPGERGLPGFPAYLDEELQTALYEIKHQILQTMGVLSLQGSMLSVGDKVFSTNGQSVNFDTIREMCTRAGGHIAAPRNPEENEAIASITKKYNTYPYLGVIEGQTPGDFHYLDGASVNYTNWYPGEPRGRGKEKCVEMYTDGKWNDKGCLQYRLAICEF", "length": 248, "header": "tr|Q9CQI1-1|SFTPA_MOUSE Computationally mapped isoform of Pulmonary surfactant-associated protein A OS=Mus musculus OX=10090 GN=Sftpa1 PE=1 SV=1 CANONICAL=P35242-1" }, "locus": { "chromosome": "14", "start_pos": 40856400, "end_pos": 40854415, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000170719.2", "url": "https://www.ensembl.org/id/ENSMUST00000170719.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000129696.2", "url": "https://www.ensembl.org/id/ENSMUSP00000129696.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 207, "start_aa": "Asn", "end_pos": 207, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn207", "evidence": [ { "id": "P35242", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P35242#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 21, "start_aa": "Asn", "end_pos": 21, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn21", "evidence": [ { "id": "P35242", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P35242#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Murine pulmonary surfactant SP-A gene: cloning, sequence, and transcriptional activity.", "journal": "Am. J. Physiol.", "date": "1992", "authors": "Lattier D.L., Whitsett J.A., Clark J.C., Glasser S.W., Korfhagen T.R., Bruno M.D., Ciraolo P.J., Wikenheiser K.A.", "evidence": [ { "database": "UniProtKB", "id": "P35242", "url": "https://www.uniprot.org/uniprot/P35242" } ], "reference": [ { "type": "PubMed", "id": "1443158", "url": "https://glygen.org/publication/PubMed/1443158" } ] }, { "title": "SP-R210 (Myo18A) isoforms as intrinsic modulators of macrophage priming and activation.", "journal": "PLoS ONE", "date": "2015", "authors": "Yang L, Carrillo M, Wu YM, DiAngelo SL, Silveyra P, Umstead TM, Halstead ES, Davies ML, Hu S, Floros J, McCormack FX, Christensen ND, Chroneos ZC", "evidence": [ { "database": "UniProtKB", "id": "P35242", "url": "https://www.uniprot.org/uniprot/P35242" } ], "reference": [ { "type": "PubMed", "id": "25965346", "url": "https://glygen.org/publication/PubMed/25965346" } ] }, { "title": "A homozygous SFTPA1 mutation drives necroptosis of type II alveolar epithelial cells in patients with idiopathic pulmonary fibrosis.", "journal": "J. Exp. Med.", "date": "2019", "authors": "Takezaki A, Tsukumo SI, Setoguchi Y, Ledford JG, Goto H, Hosomichi K, Uehara H, Nishioka Y, Yasutomo K", "evidence": [ { "database": "UniProtKB", "id": "P35242", "url": "https://www.uniprot.org/uniprot/P35242" } ], "reference": [ { "type": "PubMed", "id": "31601679", "url": "https://glygen.org/publication/PubMed/31601679" } ] }, { "title": "Surfactant Protein A can Affect the Surface Tension of the Eustachian Tube and Macrophage Migration.", "journal": "The Laryngoscope", "date": "2022-09-14", "authors": "Li Guodong, Chen Tao, Mao Yanyan, Ai Yu, Yan Wenqing, Lu Yanqing, Liu Wenwen, Wang Haibo, Li Li", "evidence": [ { "database": "RefSeq", "id": "NP_075623", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_075623" } ], "reference": [ { "type": "PubMed", "id": "36102297", "url": "https://glygen.org/publication/PubMed/36102297" } ] }, { "title": "Surfactant protein a attenuates generalized and localized neuroinflammation in neonatal mice.", "journal": "Brain research", "date": "2023-05-15", "authors": "Crocker Caroline E, Sharmeen Romana, Tran Thu T, Khan Amir M, Li Wen, Alcorn Joseph L", "evidence": [ { "database": "RefSeq", "id": "NP_075623", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_075623" } ], "reference": [ { "type": "PubMed", "id": "36871846", "url": "https://glygen.org/publication/PubMed/36871846" } ] }, { "title": "Regulatory roles of SP-A and exosomes in pneumonia-induced acute lung and kidney injuries.", "journal": "Frontiers in immunology", "date": "2023", "authors": "Chen Xinghua, Guo Junping, Mahmoud Salma, Vanga Gautam, Liu Tianyi, Xu Wanwen, Xiong Yunhe, Xiong Weichuan, Abdel-Razek Osama, Wang Guirong", "evidence": [ { "database": "RefSeq", "id": "NP_075623", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_075623" } ], "reference": [ { "type": "PubMed", "id": "37256132", "url": "https://glygen.org/publication/PubMed/37256132" } ] } ], "pathway": [ { "id": "mmu:20387", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:20387", "resource": "KEGG Pathway" }, { "id": "R-MMU-166016", "name": "Toll Like Receptor 4 (TLR4) Cascade", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-166016", "resource": "Reactome", "description": "Toll Like Receptor 4 (TLR4) Cascade" }, { "id": "R-MMU-391160", "name": "Signal regulatory protein family interactions", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-391160", "resource": "Reactome", "description": "Signal regulatory protein family interactions" }, { "id": "R-MMU-5683826", "name": "Surfactant metabolism", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-5683826", "resource": "Reactome", "description": "Surfactant metabolism" }, { "id": "R-MMU-5686938", "name": "Regulation of TLR by endogenous ligand", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-5686938", "resource": "Reactome", "description": "Regulation of TLR by endogenous ligand" } ], "orthologs": [ { "uniprot_canonical_ac": "P08427-1", "protein_name": "Pulmonary surfactant-associated protein A", "gene_name": "Sftpa1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MSLCSLAFTLFLTVVAGIKCNVTDVCAGSPGIPGAPGNHGLPGRDGRDGVKGDPGPPGPMGPPGGMPGLPGRDGLPGAPGAPGERGDKGEPGERGLPGFPAYLDEELQTELYEIKHQILQTMGVLSLQGSMLSVGDKVFSTNGQSVNFDTIKEMCTRAGGNIAVPRTPEENEAIASIAKKYNNYVYLGMIEDQTPGDFHYLDGASVNYTNWYPGEPRGQGKEKCVEMYTDGTWNDRGCLQYRLAVCEF", "length": 248 }, "evidence": [ { "id": "45243631", "url": "http://www.informatics.jax.org/homology/45243631", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q8IWL1-1", "protein_name": "Pulmonary surfactant-associated protein A2", "gene_name": "SFTPA2", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MWLCPLALTLILMAASGAACEVKDVCVGSPGIPGTPGSHGLPGRDGRDGVKGDPGPPGPMGPPGETPCPPGNNGLPGAPGVPGERGEKGEAGERGPPGLPAHLDEELQATLHDFRHQILQTRGALSLQGSIMTVGEKVFSSNGQSITFDAIQEACARAGGRIAVPRNPEENEAIASFVKKYNTYAYVGLTEGPSPGDFRYSDGTPVNYTNWYRGEPAGRGKEQCVEMYTDGQWNDRNCLYSRLTICEF", "length": 248 }, "evidence": [ { "id": "45243631", "url": "http://www.informatics.jax.org/homology/45243631", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "Q8IWL2-1", "protein_name": "Pulmonary surfactant-associated protein A1", "gene_name": "SFTPA1", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MWLCPLALNLILMAASGAVCEVKDVCVGSPGIPGTPGSHGLPGRDGRDGLKGDPGPPGPMGPPGEMPCPPGNDGLPGAPGIPGECGEKGEPGERGPPGLPAHLDEELQATLHDFRHQILQTRGALSLQGSIMTVGEKVFSSNGQSITFDAIQEACARAGGRIAVPRNPEENEAIASFVKKYNTYAYVGLTEGPSPGDFRYSDGTPVNYTNWYRGEPAGRGKEQCVEMYTDGQWNDRNCLYSRLTICEF", "length": 248 }, "evidence": [ { "id": "45243631", "url": "http://www.informatics.jax.org/homology/45243631", "database": "MGI" } ], "common_name": "Human" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P35242", "url": "https://www.uniprot.org/uniprot/P35242" } ], "pmid": "" }, { "name": "collagen trimer", "id": "GO:0005581", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005581", "evidence": [ { "database": "UniProtKB", "id": "P35242", "url": "https://www.uniprot.org/uniprot/P35242" } ], "pmid": "" }, { "name": "multivesicular body", "id": "GO:0005771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005771", "evidence": [ { "database": "UniProtKB", "id": "P35242", "url": "https://www.uniprot.org/uniprot/P35242" } ], "pmid": "" }, { "name": "rough endoplasmic reticulum", "id": "GO:0005791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005791", "evidence": [ { "database": "UniProtKB", "id": "P35242", "url": "https://www.uniprot.org/uniprot/P35242" } ], "pmid": "" }, { "name": "collagen-containing extracellular matrix", "id": "GO:0062023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062023", "evidence": [ { "database": "UniProtKB", "id": "P35242", "url": "https://www.uniprot.org/uniprot/P35242" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 13, "go_terms": [ { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P35242", "url": "https://www.uniprot.org/uniprot/P35242" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P35242", "url": "https://www.uniprot.org/uniprot/P35242" } ], "pmid": "" }, { "name": "response to glucocorticoid", "id": "GO:0051384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051384", "evidence": [ { "database": "UniProtKB", "id": "P35242", "url": "https://www.uniprot.org/uniprot/P35242" } ], "pmid": "" }, { "name": "response to retinoic acid", "id": "GO:0032526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032526", "evidence": [ { "database": "UniProtKB", "id": "P35242", "url": "https://www.uniprot.org/uniprot/P35242" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "P35242", "url": "https://www.uniprot.org/uniprot/P35242" } ], "pmid": "" }, { "name": "response to vitamin A", "id": "GO:0033189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033189", "evidence": [ { "database": "UniProtKB", "id": "P35242", "url": "https://www.uniprot.org/uniprot/P35242" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis", "id": "GO:0050766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050766", "evidence": [ { "database": "UniProtKB", "id": "P35242", "url": "https://www.uniprot.org/uniprot/P35242" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "P35242", "url": "https://www.uniprot.org/uniprot/P35242" } ], "pmid": "" }, { "name": "cellular response to nitric oxide", "id": "GO:0071732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071732", "evidence": [ { "database": "UniProtKB", "id": "P35242", "url": "https://www.uniprot.org/uniprot/P35242" } ], "pmid": "" }, { "name": "response to epidermal growth factor", "id": "GO:0070849", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070849", "evidence": [ { "database": "UniProtKB", "id": "P35242", "url": "https://www.uniprot.org/uniprot/P35242" } ], "pmid": "" }, { "name": "response to hyperoxia", "id": "GO:0055093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055093", "evidence": [ { "database": "UniProtKB", "id": "P35242", "url": "https://www.uniprot.org/uniprot/P35242" } ], "pmid": "" }, { "name": "response to interleukin-6", "id": "GO:0070741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070741", "evidence": [ { "database": "UniProtKB", "id": "P35242", "url": "https://www.uniprot.org/uniprot/P35242" } ], "pmid": "" }, { "name": "respiratory gaseous exchange by respiratory system", "id": "GO:0007585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007585", "evidence": [ { "database": "UniProtKB", "id": "P35242", "url": "https://www.uniprot.org/uniprot/P35242" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "P35242", "url": "https://www.uniprot.org/uniprot/P35242" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P35242", "url": "https://www.uniprot.org/uniprot/P35242" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 207, "end_pos": 209, "annotation": "n_glycosylation_sequon" }, { "start_pos": 21, "end_pos": 23, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 6 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }