{ "uniprot_canonical_ac": "P07988-1", "uniprot_ac": "P07988", "uniprot_id": "PSPB_HUMAN", "mass": { "chemical_mass": 42117.0, "monoisotopic_mass": 42117.0 }, "refseq": { "ac": "NP_000533", "name": "pulmonary surfactant-associated protein B isoform 1 precursor", "summary": "This gene encodes the pulmonary-associated surfactant protein B (SPB), an amphipathic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. The SPB enhances the rate of spreading and increases the stability of surfactant monolayers in vitro. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 1, also called pulmonary alveolar proteinosis due to surfactant protein B deficiency, and are associated with fatal respiratory distress in the neonatal period. Alternatively spliced transcript variants encoding the same protein have been identified.[provided by RefSeq, Feb 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000533" }, "gene_names": [ { "name": "SFTPB", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P07988", "id": "P07988" }, { "name": "PSP-B; SFTB3; SFTP3; SMDP1; SP-B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000533", "id": "NP_000533" }, { "name": "SFTP3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P07988", "id": "P07988" }, { "name": "SFTPB", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000533", "id": "NP_000533" } ], "protein_names": [ { "name": "Pulmonary surfactant-associated protein B", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P07988" }, { "name": "18 kDa pulmonary-surfactant protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07988" }, { "name": "6 kDa protein; 18 kDa pulmonary-surfactant protein; pulmonary surfactant-associated proteolipid SPL(Phe)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000533", "id": "NP_000533" }, { "name": "6 kDa protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07988" }, { "name": "Pulmonary surfactant-associated proteolipid SPL(Phe)", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07988" }, { "name": "SP-B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07988" }, { "name": "pulmonary surfactant-associated protein B isoform 1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000533", "id": "NP_000533" } ], "function": [ { "annotation": "A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C.", "evidence": [ { "database": "RefSeq", "id": "NP_000533", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000533" }, { "database": "PubMed", "id": "35121658", "url": "https://glygen.org/publication/PubMed/35121658" } ] }, { "annotation": "Intra-amniotic infection was associated with an increased amniotic fluid concentration of SP-B in patients who received antenatal corticosteroids within 7 days prior to amniocentesis.", "evidence": [ { "database": "RefSeq", "id": "NP_000533", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000533" }, { "database": "PubMed", "id": "18828060", "url": "https://glygen.org/publication/PubMed/18828060" } ] }, { "annotation": "Pulmonary surfactant protein B carried by HDL predicts incident CVD in patients with type 1 diabetes.", "evidence": [ { "database": "RefSeq", "id": "NP_000533", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000533" }, { "database": "PubMed", "id": "35300983", "url": "https://glygen.org/publication/PubMed/35300983" } ] }, { "annotation": "Pulmonary surfactant-associated proteins promote alveolar stability by lowering the surface tension at the air-liquid interface in the peripheral air spaces. SP-B increases the collapse pressure of palmitic acid to nearly 70 millinewtons per meter.", "evidence": [ { "database": "UniProtKB", "id": "H0Y7V6", "url": "https://www.uniprot.org/uniprot/H0Y7V6#function" }, { "database": "UniProtKB", "id": "ARBA00037221", "url": "https://www.uniprot.org/uniprot/ARBA00037221#function" }, { "database": "UniProtKB", "id": "P07988", "url": "https://www.uniprot.org/uniprot/P07988#function" } ] }, { "annotation": "SFTPB (rs11130866) and NR3C1 (rs41423247) gene variants as potential clinical biomarkers for personalized treatment strategy selection in patients with severe COVID-19 pneumonia.", "evidence": [ { "database": "RefSeq", "id": "NP_000533", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000533" }, { "database": "PubMed", "id": "36460583", "url": "https://glygen.org/publication/PubMed/36460583" } ] }, { "annotation": "Silica nanoparticle exposure inhibits surfactant protein A and B in A549 cells through ROS-mediated JNK/c-Jun signaling pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_000533", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000533" }, { "database": "PubMed", "id": "35689653", "url": "https://glygen.org/publication/PubMed/35689653" } ] }, { "annotation": "This gene encodes the pulmonary-associated surfactant protein B (SPB), an amphipathic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. The SPB enhances the rate of spreading and increases the stability of surfactant monolayers in vitro. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 1, also called pulmonary alveolar proteinosis due to surfactant protein B deficiency, and are associated with fatal respiratory distress in the neonatal period. Alternatively spliced transcript variants encoding the same protein have been identified.[provided by RefSeq, Feb 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_000533", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000533" } ] }, { "annotation": "This is the first study to detect and characterize SP-B in human sinus mucosa. Furthermore, SP-B is significantly up-regulated in cystic fibrosis chronic rhinosinusitis.", "evidence": [ { "database": "RefSeq", "id": "NP_000533", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000533" }, { "database": "PubMed", "id": "17507829", "url": "https://glygen.org/publication/PubMed/17507829" } ] } ], "disease": [ { "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": "265120", "database": "MIM", "url": "https://www.omim.org/entry/265120" } ] }, { "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": "267450", "database": "MIM", "url": "https://www.omim.org/entry/267450" } ] } ], "snv": [ { "evidence": [ { "id": "rs1130866", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1130866" }, { "id": "rs1130866", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1130866" }, { "id": "rs1130866", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1130866" }, { "id": "rs1130866", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1130866#frequency_tab" }, { "id": "rs1130866", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1130866" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 131, "end_pos": 131, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQT->NQI); o-glyco-site-loss (T->I).", "chr_id": "2", "chr_pos": "85666618", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.48", "site_lbl": "T131", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "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. 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"MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P07988", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07988" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P07988", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07988" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07988" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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}, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P07988", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07988" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"XEWLPRDSECHLCMSVTTQAGNSSEQAIPQAMLQACVGSWLDREKCKQFVEQHTPQLLTLVPRGWDAHTTCQALGVCGTMSSPLQCIHSPDL", "length": 92, "header": "tr|U3KQT2-1|PSPB_HUMAN Computationally mapped isoform of Pulmonary surfactant-associated protein B OS=Homo sapiens OX=9606 GN=SFTPB PE=1 SV=1 CANONICAL=P07988-1" }, "locus": { "chromosome": "2", "start_pos": 85663478, "end_pos": 85661474, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000494165.1", "url": "https://www.ensembl.org/id/ENST00000494165.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000476194.1", "url": "https://www.ensembl.org/id/ENSP00000476194.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 129, "start_aa": "Asn", "end_pos": 129, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn129", "evidence": [ { "id": "P07988", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07988#ptm_processing" }, { "id": "PRU00415", "database": "PROSITE-PRORULE", "url": "https://prosite.expasy.org/rule/PRU00415" }, { "id": "12356334", "database": "Automatic Literature Mining", "url": "https://research.bioinformatics.udel.edu/glyco/pmid/12356334" }, { "id": "12356334", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/12356334" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "site_category": "automatic_literature_mining", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 131, "start_aa": "Thr", "end_pos": 131, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr131", "evidence": [ { "id": "12356334", "database": "Automatic Literature Mining", "url": "https://research.bioinformatics.udel.edu/glyco/pmid/12356334" }, { "id": "12356334", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/12356334" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 311, "start_aa": "Asn", "end_pos": 311, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn311", "evidence": [ { "id": "P07988", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07988#ptm_processing" }, { "id": "PRU00415", "database": "PROSITE-PRORULE", "url": "https://prosite.expasy.org/rule/PRU00415" }, { "id": "12356334", "database": "Automatic Literature Mining", "url": "https://research.bioinformatics.udel.edu/glyco/pmid/12356334" }, { "id": "12356334", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/12356334" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "site_category": "automatic_literature_mining", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 313, "start_aa": "Ser", "end_pos": 313, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser313", "evidence": [ { "id": "12356334", "database": "Automatic Literature Mining", "url": "https://research.bioinformatics.udel.edu/glyco/pmid/12356334" }, { "id": "12356334", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/12356334" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported" ], "publication": [ { "title": "Crystal structure of the trimeric alpha-helical coiled-coil and the three lectin domains of human lung surfactant protein D.", "journal": "Structure (London, England : 1993)", "date": "1999", "authors": "Hakansson K, Lim NK, Hoppe HJ, Reid KB", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "10368295", "url": "https://glygen.org/publication/PubMed/10368295" } ] }, { "title": "Cloning of gp-340, a putative opsonin receptor for lung surfactant protein D.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Holmskov U, Mollenhauer J, Madsen J, Vitved L, Gronlund J, Tornoe I, Kliem A, Reid KB, Poustka A, Skjodt K", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "10485905", "url": "https://glygen.org/publication/PubMed/10485905" } ] }, { "title": "Characterization of human A(2B) adenosine receptors: radioligand binding, western blotting, and coupling to G(q) in human embryonic kidney 293 cells and HMC-1 mast cells.", "journal": "Molecular pharmacology", "date": "1999", "authors": "Linden J, Thai T, Figler H, Jin X, Robeva AS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "10496952", "url": "https://glygen.org/publication/PubMed/10496952" } ] }, { "title": "Compound SFTPB 1549C-->GAA (121ins2) and 457delC heterozygosity in severe congenital lung disease and surfactant protein B (SP-B) deficiency.", "journal": "Human mutation", "date": "1999", "authors": "Tredano M, van Elburg RM, Kaspers AG, Zimmermann LJ, Houdayer C, Aymard P, Hull WM, Whitsett JA, Elion J, Griese M, Bahuau M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5688031", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5688031" } ], "reference": [ { "type": "PubMed", "id": "10571948", "url": "https://glygen.org/publication/PubMed/10571948" } ] }, { "title": "Napsin A, a member of the aspartic protease family, is abundantly expressed in normal lung and kidney tissue and is expressed in lung adenocarcinomas.", "journal": "FEBS letters", "date": "1999", "authors": "Chuman Y, Bergman A, Ueno T, Saito S, Sakaguchi K, Alaiya AA, Franzen B, Bergman T, Arnott D, Auer G, Appella E, Jornvall H, Linder S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": 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Pept. Res.", "date": "2000", "authors": "Gordon L M, Lee K Y, Lipp M M, Zasadzinski J A, Walther F J, Sherman M A, Waring A J", "evidence": [ { "database": "UniProtKB", "id": "P07988", "url": "https://www.uniprot.org/uniprot/P07988" } ], "reference": [ { "type": "PubMed", "id": "10798379", "url": "https://glygen.org/publication/PubMed/10798379" } ] }, { "title": "Surfactant proteins A and B as interactive genetic determinants of neonatal respiratory distress syndrome.", "journal": "Hum. Mol. Genet.", "date": "2000", "authors": "Haataja R, R\u00e4met M, Marttila R, Hallman M", "evidence": [ { "database": "UniProtKB", "id": "P07988", "url": "https://www.uniprot.org/uniprot/P07988" } ], "reference": [ { "type": "PubMed", "id": "11063734", "url": "https://glygen.org/publication/PubMed/11063734" } ] }, { "title": "Polymorphisms of human SP-A, SP-B, and SP-D genes: association of SP-B Thr131Ile with ARDS.", "journal": "Clin. 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