{ "uniprot_canonical_ac": "P91682-1", "uniprot_ac": "P91682", "uniprot_id": "SMO_DROME", "mass": { "chemical_mass": 116552.0, "monoisotopic_mass": 116552.0 }, "refseq": { "ac": "NP_523443", "name": "smoothened", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_523443" }, "gene_names": [ { "name": "smo", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P91682", "id": "P91682" }, { "name": "CG11561; Dmel\\CG11561; dSmo; Smo; SMO", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_523443", "id": "NP_523443" }, { "name": "CG11561", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P91682", "id": "P91682" }, { "name": "smo", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_523443", "id": "NP_523443" } ], "protein_names": [ { "name": "Protein smoothened", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P91682" }, { "name": "CG11561-PA; smo-PA; smoothene", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_523443", "id": "NP_523443" }, { "name": "SMOH", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P91682" }, { "name": "Smooth", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P91682" }, { "name": "dSMO", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P91682" }, { "name": "smoothened", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_523443", "id": "NP_523443" } ], "function": [ { "annotation": "Segment polarity protein required for correct patterning of every segment. G protein-coupled receptor which associates with the patched protein (ptc) to transduce the hedgehog (hh) signal through the activation of an inhibitory G-protein. In the absence of hh, ptc represses the constitutive signaling activity of smo through fused (fu). Essential component of a hh-signaling pathway which regulates the Duox-dependent gut immune response to bacterial uracil; required to activate Cad99C-dependent endosome formation, norpA-dependent Ca2+ mobilization and p38 MAPK, which are essential steps in the Duox-dependent production of reactive oxygen species (ROS) in response to intestinal bacterial infection (PubMed:25639794).", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682#function" } ] } ], "disease": [ { "disease_id": "DOID:0050338", "recommended_name": { "id": "DOID:0050338", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050338", "name": "primary bacterial infectious disease", "description": "A bacterial infectious disease that results_in infection by bacteria as a result of their presence or activity within the normal, healthy host, and their intrinsic virulence is, in part, a necessary consequence of their need to reproduce and spread." }, "synonyms": [], "evidence": [ { "id": "0050338", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050338" } ] }, { "disease_id": "DOID:0060071", "recommended_name": { "id": "DOID:0060071", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060071", "name": "pre-malignant neoplasm", "description": "A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer." }, "synonyms": [], "evidence": [ { "id": "0060071", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060071" } ] }, { "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" } ], "evidence": [ { "id": "10534", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:11832", "recommended_name": { "id": "DOID:11832", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11832", "name": "visual epilepsy", "description": "" }, "synonyms": [ { "id": "DOID:11832", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11832", "name": "epilepsy, visual", "description": "" } ], "evidence": [ { "id": "11832", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11832" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "evidence": [ { "id": "1793", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:219", "recommended_name": { "id": "DOID:219", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon." }, "synonyms": [], "evidence": [ { "id": "219", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:219" } ] }, { "disease_id": "DOID:2512", "recommended_name": { "id": "DOID:2512", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2512", "name": "nevoid basal cell carcinoma syndrome", "description": "A syndrome characterized by multiple early-onset basal cell carcinoma, multiple jaw keratocysts and skeletal abnormalities." }, "synonyms": [ { "id": "DOID:2512", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2512", "name": "Gorlin syndrome", "description": "" }, { "id": "DOID:2512", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2512", "name": "NBCCS", "description": "" }, { "id": "DOID:2512", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2512", "name": "basal cell nevus syndrome", "description": "" }, { "id": "MONDO:0007187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007187", "name": "nevoid basal cell carcinoma syndrome", "description": "A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities." }, { "id": "MONDO:0007187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007187", "name": "Gorlin syndrome", "description": "" }, { "id": "MONDO:0007187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007187", "name": "Gorlin-Goltz syndrome", "description": "" }, { "id": "MONDO:0007187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007187", "name": "NBCCS", "description": "" }, { "id": "MONDO:0007187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007187", "name": "basal cell nevus syndrome", "description": "" }, { "id": "MONDO:0007187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007187", "name": "multiple basal cell carcinomas", "description": "" }, { "id": "MONDO:0007187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007187", "name": "nevoid basal cell cancer syndrome", "description": "" }, { "id": "MONDO:0007187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007187", "name": "nevoid basal cell carcinoma syndrome", "description": "" }, { "id": "MONDO:0007187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007187", "name": "BCNS", "description": "" }, { "id": "MONDO:0007187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007187", "name": "multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies", "description": "" }, { "id": "MIM:109400", "resource": "MIM", "url": "https://www.omim.org/entry/109400", "name": "Basal cell nevus syndrome 1", "description": "Basal cell nevus syndrome 1" } ], "evidence": [ { "id": "2512", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2512" } ] }, { "disease_id": "DOID:2513", "recommended_name": { "id": "DOID:2513", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2513", "name": "basal cell carcinoma", "description": "A skin carcinoma affecting basal cells." }, "synonyms": [ { "id": "DOID:2513", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2513", "name": "Basal cell cancer", "description": "" }, { "id": "DOID:2513", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2513", "name": "Basal cell carcinoma of skin", "description": "" }, { "id": "DOID:2513", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2513", "name": "Basal cell neoplasm", "description": "" }, { "id": "DOID:2513", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2513", "name": "Basal cell tumor", "description": "" }, { "id": "DOID:2513", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2513", "name": "Epithelioma basal cell", "description": "" }, { "id": "DOID:2513", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2513", "name": "Rodent ulcer", "description": "" }, { "id": "DOID:2513", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2513", "name": "malignant Basal cell neoplasm", "description": "" }, { "id": "DOID:2513", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2513", "name": "malignant basal cell tumor", "description": "" } ], "evidence": [ { "id": "2513", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2513" } ] }, { "disease_id": "DOID:3525", "recommended_name": { "id": "DOID:3525", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3525", "name": "middle cerebral artery infarction", "description": "" }, "synonyms": [], "evidence": [ { "id": "3525", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ] }, { "disease_id": "DOID:3587", "recommended_name": { "id": "DOID:3587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct." }, "synonyms": [ { "id": "DOID:3587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3587", "name": "malignant neoplasm of duct of Wirsung", "description": "" }, { "id": "DOID:3587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3587", "name": "pancreatic duct cancer", "description": "" } ], "evidence": [ { "id": "3587", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ] }, { "disease_id": "DOID:4914", "recommended_name": { "id": "DOID:4914", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4914", "name": "esophagus adenocarcinoma", "description": "An esophageal carcinoma that derives_from epithelial cells of glandular origin." }, "synonyms": [ { "id": "DOID:4914", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4914", "name": "Oesophageal adenocarcinoma", "description": "" } ], "evidence": [ { "id": "4914", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4914" } ] }, { "disease_id": "DOID:4989", "recommended_name": { "id": "DOID:4989", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas." }, "synonyms": [ { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "hereditary chronic pancreatitis", "description": "Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas." }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "hereditary chronic pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "hereditary pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "HPC", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "Hp", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "PCTT", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "autosomal dominant hereditary pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "familial pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, calcific", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, calcific, included", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic pancreatitis, chronic, susceptibility to, included", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic, protection against", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic, protection against, included", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic, susceptibility to", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, hereditary", "description": "" }, { "id": "MIM:167800", "resource": "MIM", "url": "https://www.omim.org/entry/167800", "name": "Pancreatitis, hereditary", "description": "Pancreatitis, hereditary" } ], "evidence": [ { "id": "4989", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4989" } ] }, { "disease_id": "DOID:5082", "recommended_name": { "id": "DOID:5082", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5082", "name": "liver cirrhosis", "description": "" }, "synonyms": [ { "id": "DOID:5082", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5082", "name": "Cirrhosis", "description": "" }, { "id": "DOID:5082", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5082", "name": "cirrhosis of liver", "description": "" }, { "id": "MONDO:0005155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005155", "name": "cirrhosis of liver", "description": "A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholism, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy." }, { "id": "MONDO:0005155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005155", "name": "cirrhosis", "description": "" }, { "id": "MONDO:0005155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005155", "name": "cirrhosis of liver", "description": "" }, { "id": "MONDO:0005155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005155", "name": "liver cirrhosis", "description": "" } ], "evidence": [ { "id": "5082", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ] }, { "disease_id": "DOID:5593", "recommended_name": { "id": "DOID:5593", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5593", "name": "gastric papillary adenocarcinoma", "description": "A papillary adenocarcinoma that is located_in the stomach." }, "synonyms": [ { "id": "DOID:5593", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5593", "name": "Papillary adenocarcinoma of stomach", "description": "" } ], "evidence": [ { "id": "5593", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5593" } ] }, { "disease_id": "DOID:6595", "recommended_name": { "id": "DOID:6595", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6595", "name": "gastric tubular adenocarcinoma", "description": "" }, "synonyms": [ { "id": "DOID:6595", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6595", "name": "tubular adenocarcinoma of stomach", "description": "" } ], "evidence": [ { "id": "6595", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:6595" } ] }, { "disease_id": "DOID:684", "recommended_name": { "id": "DOID:684", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver." }, "synonyms": [ { "id": "DOID:684", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:684", "name": "Hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "HCC", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "cancer, hepatocellular", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma, hepatocellular, malignant", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular adenocarcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, childhood type, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell cancer (hepatocellular carcinoma)", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult primary hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma caused by somatic mutation", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver and intrahepatic bile duct carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "HCC", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "cancer, hepatocellular", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma, hepatocellular, malignant", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular adenocarcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, childhood type, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell cancer (hepatocellular carcinoma)", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult primary hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma caused by somatic mutation", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver and intrahepatic bile duct carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cancer", "description": "" }, { "id": "MIM:114550", "resource": "MIM", "url": "https://www.omim.org/entry/114550", "name": "Hepatocellular carcinoma", "description": "Hepatocellular carcinoma" } ], "evidence": [ { "id": "684", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:684" } ] }, { "disease_id": "DOID:687", "recommended_name": { "id": "DOID:687", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:687", "name": "hepatoblastoma", "description": "" }, "synonyms": [], "evidence": [ { "id": "687", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:687" } ] }, { "disease_id": "DOID:7474", "recommended_name": { "id": "DOID:7474", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7474", "name": "malignant pleural mesothelioma", "description": "A pleural cancer that has_material_basis_in mesothelium cells." }, "synonyms": [ { "id": "DOID:7474", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7474", "name": "malignant mesothelioma of pleura", "description": "" } ], "evidence": [ { "id": "7474", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:7474" } ] }, { "disease_id": "DOID:9206", "recommended_name": { "id": "DOID:9206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9206", "name": "Barrett's esophagus", "description": "An esophageal disease characterized by a change of normal esophageal squamous epithelium to a columnar and intestinal-type epithelium." }, "synonyms": [ { "id": "DOID:9206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9206", "name": "Barrett esophagus", "description": "" }, { "id": "DOID:9206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9206", "name": "Barrett's esophagus with esophagitis", "description": "" }, { "id": "DOID:9206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9206", "name": "Barrett's oesophagus", "description": "" }, { "id": "DOID:9206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9206", "name": "Barrett's ulcer of esophagus", "description": "" }, { "id": "DOID:9206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9206", "name": "Barretts syndrome", "description": "" }, { "id": "DOID:9206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9206", "name": "ulcerative esophagitis", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barrett esophagus", "description": "Esophageal lesion lined with columnar metaplastic epithelium which is flat or villiform. Barrett epithelium is characterized by two different types of cells: goblet cells and columnar cells. The symptomatology of Barrett esophagus is that of gastro-esophageal reflux. It is the precursor of most esophageal adenocarcinomas. (WHO)" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "BE", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barrett esophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barrett esophagus/esophageal adenocarcinoma", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barrett's esophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barrett's esophagus with esophagitis", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barrett's oesophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barrett's oesophagus with esophagitis", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barrett's ulcer of esophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barrett's ulcer of oesophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barretts syndrome", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "CLE", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "cello", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "columnar epithelial-lined Lower esophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "columnar epithelial-lined Lower oesophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "columnar-lined esophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "columnar-lined oesophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "ulcerative esophagitis", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barrett metaplasia", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "adenocarcinoma of esophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "adenocarcinoma of oesophagus", "description": "" }, { "id": "MIM:614266", "resource": "MIM", "url": "https://www.omim.org/entry/614266", "name": "Barrett esophagus", "description": "Barrett esophagus" } ], "evidence": [ { "id": "9206", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9206" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "evidence": [ { "id": "9256", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:9282", "recommended_name": { "id": "DOID:9282", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9282", "name": "ocular hypertension", "description": "An eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss." }, "synonyms": [], "evidence": [ { "id": "9282", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9282" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" } ], "common_name": "Fruit fly" } ], "gene": [ { "name": "smo", "url": "https://www.uniprot.org/uniprot/P91682", "locus": { "chromosome": "2L", "start_pos": 282167, "end_pos": 277582, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "FBgn0003444", "url": "https://www.ensembl.org/id/FBgn0003444" } ] } } ], "crossref": [ { "id": "FBgn0003444", "url": "https://bgee.org/?page=gene&gene_id=FBgn0003444", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd07451", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd07451", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd15030", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd15030", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "FBgn0003444", "url": "https://flybase.org/reports/FBgn0003444", "database": "FlyBase", "categories": [ "Organism-specific" ] }, { "id": "33196", "url": "https://www.ncbi.nlm.nih.gov/gene/33196", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "P91682", "url": "https://www.ebi.ac.uk/intact/interactors/id:P91682*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000539", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000539", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR015526", "url": "https://www.ebi.ac.uk/interpro/entry/IPR015526", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017981", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017981", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR020067", "url": "https://www.ebi.ac.uk/interpro/entry/IPR020067", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR035683", "url": "https://www.ebi.ac.uk/interpro/entry/IPR035683", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036790", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036790", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR041771", "url": "https://www.ebi.ac.uk/interpro/entry/IPR041771", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "dme:Dmel_CG11561", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+dme:Dmel_CG11561", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "HGPRKNS", "url": "https://omabrowser.org/oma/group/HGPRKNS/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2902735at2759", "url": "http://www.orthodb.org/?query=2902735at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11309", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11309", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11309:SF35", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11309:SF35", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "2MAH", "url": "https://www.rcsb.org/structure/2MAH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8OIJ", "url": "https://www.rcsb.org/structure/8OIJ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF01392", "url": "http://pfam.xfam.org/family/PF01392", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF01534", "url": "http://pfam.xfam.org/family/PF01534", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_P91682", "url": "http://purl.obolibrary.org/obo/PR_P91682", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-DME-209214", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209214", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-DME-209338", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209338", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-DME-216119", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-216119", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-DME-216217", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-216217", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-DME-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-5610787", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-DME-5635838", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-5635838", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_523443", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_523443", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P91682-1", "url": "https://www.uniprot.org/uniprot/P91682-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MQYLNFPRMPNIMMFLEVAILCLWVVADASASSAKFGSTTPASAQQSDVELEPINGTLNYRLYAKKGRDDKPWFDGLDSRHIQCVRRARCYPTSNATNTCFGSKLPYELSSLDLTDFHTEKELNDKLNDYYALKHVPKCWAAIQPFLCAVFKPKCEKINGEDMVYLPSYEMCRITMEPCRILYNTTFFPKFLRCNETLFPTKCTNGARGMKFNGTGQCLSPLVPTDTSASYYPGIEGCGVRCKDPLYTDDEHRQIHKLIGWAGSICLLSNLFVVSTFFIDWKNANKYPAVIVFYINLCFLIACVGWLLQFTSGSREDIVCRKDGTLRHSEPTAGENLSCIVIFVLVYYFLTAGMVWFVFLTYAWHWRAMGHVQDRIDKKGSYFHLVAWSLPLVLTITTMAFSEVDGNSIVGICFVGYINHSMRAGLLLGPLCGVILIGGYFITRGMVMLFGLKHFANDIKSTSASNKIHLIIMRMGVCALLTLVFILVAIACHVTEFRHADEWAQSFRQFIICKISSVFEEKSSCRIENRPSVGVLQLHLLCLFSSGIVMSTWCWTPSSIETWKRYIRKKCGKEVVEEVKMPKHKVIAQTWAKRKDFEDKGRLSITLYNTHTDPVGLNFDVNDLNSSETNDISSTWAAYLPQCVKRRMALTGAATGNSSSHGPRKNSLDSEISVSVRHVSVESRRNSVDSQVSVKIAEMKTKVASRSRGKHGGSSSNRRTQRRRDYIAAATGKSSRRRESSTSVESQVIALKKTTYPNASHKVGVFAHHSSKKQHNYTSSMKRRTANAGLDPSILNEFLQKNGDFIFPFLQNQDMSSSSEEDNSRASQKIQDLNVVVKQQEISEDDHDGIKIEELPNSKQVALENFLKNIKKSNESNSNRHSRNSARSQSKKSQKRHLKNPAADLDFRKDCVKYRSNDSLSCSSEELDVALDVGSLLNSSFSGISMGKPHSRNSKTSCDVGIQANPFELVPSYGEDELQQAMRLLNAASRQRTEAANEDFGGTELQGLLGHSHRHQREPTFMSESDKLKMLLLPSK", "length": 1036, "header": "sp|P91682-1|SMO_DROME Isoform 1 of Protein smoothened OS=Drosophila melanogaster OX=7227 GN=smo PE=1 SV=1 CANONICAL=P91682-1" }, "isoforms": [ { "isoform_ac": "P91682-1", "url": "", "sequence": { "sequence": "MQYLNFPRMPNIMMFLEVAILCLWVVADASASSAKFGSTTPASAQQSDVELEPINGTLNYRLYAKKGRDDKPWFDGLDSRHIQCVRRARCYPTSNATNTCFGSKLPYELSSLDLTDFHTEKELNDKLNDYYALKHVPKCWAAIQPFLCAVFKPKCEKINGEDMVYLPSYEMCRITMEPCRILYNTTFFPKFLRCNETLFPTKCTNGARGMKFNGTGQCLSPLVPTDTSASYYPGIEGCGVRCKDPLYTDDEHRQIHKLIGWAGSICLLSNLFVVSTFFIDWKNANKYPAVIVFYINLCFLIACVGWLLQFTSGSREDIVCRKDGTLRHSEPTAGENLSCIVIFVLVYYFLTAGMVWFVFLTYAWHWRAMGHVQDRIDKKGSYFHLVAWSLPLVLTITTMAFSEVDGNSIVGICFVGYINHSMRAGLLLGPLCGVILIGGYFITRGMVMLFGLKHFANDIKSTSASNKIHLIIMRMGVCALLTLVFILVAIACHVTEFRHADEWAQSFRQFIICKISSVFEEKSSCRIENRPSVGVLQLHLLCLFSSGIVMSTWCWTPSSIETWKRYIRKKCGKEVVEEVKMPKHKVIAQTWAKRKDFEDKGRLSITLYNTHTDPVGLNFDVNDLNSSETNDISSTWAAYLPQCVKRRMALTGAATGNSSSHGPRKNSLDSEISVSVRHVSVESRRNSVDSQVSVKIAEMKTKVASRSRGKHGGSSSNRRTQRRRDYIAAATGKSSRRRESSTSVESQVIALKKTTYPNASHKVGVFAHHSSKKQHNYTSSMKRRTANAGLDPSILNEFLQKNGDFIFPFLQNQDMSSSSEEDNSRASQKIQDLNVVVKQQEISEDDHDGIKIEELPNSKQVALENFLKNIKKSNESNSNRHSRNSARSQSKKSQKRHLKNPAADLDFRKDCVKYRSNDSLSCSSEELDVALDVGSLLNSSFSGISMGKPHSRNSKTSCDVGIQANPFELVPSYGEDELQQAMRLLNAASRQRTEAANEDFGGTELQGLLGHSHRHQREPTFMSESDKLKMLLLPSK", "length": 1036, "header": "sp|P91682-1|SMO_DROME Isoform 1 of Protein smoothened OS=Drosophila melanogaster OX=7227 GN=smo PE=1 SV=1 CANONICAL=P91682-1" }, "locus": { "chromosome": "2L", "start_pos": 281511, "end_pos": 277826, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0078129", "url": "https://www.ensembl.org/id/FBtr0078129" }, { "database": "Ensembl Peptide", "id": "FBpp0077788", "url": "https://www.ensembl.org/id/FBpp0077788" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 184, "start_aa": "Asn", "end_pos": 184, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn184", "evidence": [ { "id": "P91682", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P91682#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 195, "start_aa": "Asn", "end_pos": 195, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn195", "evidence": [ { "id": "P91682", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P91682#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 213, "start_aa": "Asn", "end_pos": 213, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn213", "evidence": [ { "id": "P91682", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P91682#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 336, "start_aa": "Asn", "end_pos": 336, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn336", "evidence": [ { "id": "P91682", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P91682#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 419, "start_aa": "Asn", "end_pos": 419, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn419", "evidence": [ { "id": "P91682", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P91682#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 55, "start_aa": "Asn", "end_pos": 55, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn55", "evidence": [ { "id": "P91682", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P91682#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 95, "start_aa": "Asn", "end_pos": 95, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn95", "evidence": [ { "id": "P91682", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P91682#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 658, "end_pos": 658, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "phospho.ELM", "id": "P91682", "url": "http://phospho.elm.eu.org/byAccession/P91682.html" }, { "database": "iPTMnet", "id": "P91682", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P91682" } ], "site_lbl": "Ser658" }, { "start_pos": 659, "end_pos": 659, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "phospho.ELM", "id": "P91682", "url": "http://phospho.elm.eu.org/byAccession/P91682.html" }, { "database": "iPTMnet", "id": "P91682", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P91682" } ], "site_lbl": "Ser659" }, { "start_pos": 667, "end_pos": 667, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "phospho.ELM", "id": "P91682", "url": "http://phospho.elm.eu.org/byAccession/P91682.html" }, { "database": "iPTMnet", "id": "P91682", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P91682" }, { "database": "PubMed", "id": "22253574", "url": "https://glygen.org/publication/PubMed/22253574" } ], "site_lbl": "Ser667" }, { "start_pos": 670, "end_pos": 670, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "phospho.ELM", "id": "P91682", "url": "http://phospho.elm.eu.org/byAccession/P91682.html" }, { "database": "iPTMnet", "id": "P91682", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P91682" } ], "site_lbl": "Ser670" }, { "start_pos": 673, "end_pos": 673, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "phospho.ELM", "id": "P91682", "url": "http://phospho.elm.eu.org/byAccession/P91682.html" }, { "database": "iPTMnet", "id": "P91682", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P91682" } ], "site_lbl": "Ser673" }, { "start_pos": 680, "end_pos": 680, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P91682", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P91682" }, { "database": "PubMed", "id": "25349414", "url": "https://glygen.org/publication/PubMed/25349414" } ], "site_lbl": "Ser680" }, { "start_pos": 687, "end_pos": 687, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "phospho.ELM", "id": "P91682", "url": "http://phospho.elm.eu.org/byAccession/P91682.html" }, { "database": "iPTMnet", "id": "P91682", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P91682" }, { "database": "PubMed", "id": "22253574", "url": "https://glygen.org/publication/PubMed/22253574" } ], "site_lbl": "Ser687" }, { "start_pos": 690, "end_pos": 690, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "phospho.ELM", "id": "P91682", "url": "http://phospho.elm.eu.org/byAccession/P91682.html" }, { "database": "iPTMnet", "id": "P91682", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P91682" } ], "site_lbl": "Ser690" }, { "start_pos": 693, "end_pos": 693, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "phospho.ELM", "id": "P91682", "url": "http://phospho.elm.eu.org/byAccession/P91682.html" }, { "database": "iPTMnet", "id": "P91682", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P91682" } ], "site_lbl": "Ser693" }, { "start_pos": 740, "end_pos": 740, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P91682", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P91682" }, { "database": "PubMed", "id": "22253574", "url": "https://glygen.org/publication/PubMed/22253574" } ], "site_lbl": "Ser740" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Hedgehog controls limb development by regulating the activities of distinct transcriptional activator and repressor forms of Cubitus interruptus.", "journal": "Cell", "date": "1999", "authors": "Methot N, Basler K", "evidence": [ { "database": "Reactome", "id": "R-DME-216119", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-216119" } ], "reference": [ { "type": "PubMed", "id": "10102270", "url": "https://glygen.org/publication/PubMed/10102270" } ] }, { "title": "Nuclear trafficking of Cubitus interruptus in the transcriptional regulation of Hedgehog target gene expression.", "journal": "Cell", "date": "1999", "authors": "Chen CH, von Kessler DP, Park W, Wang B, Ma Y, Beachy PA", "evidence": [ { "database": "Reactome", "id": "R-DME-216119", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-216119" } ], "reference": [ { "type": "PubMed", "id": "10458606", "url": "https://glygen.org/publication/PubMed/10458606" } ] }, { "title": "The subcellular localization and activity of Drosophila cubitus interruptus are regulated at multiple levels.", "journal": "Development (Cambridge, England)", "date": "1999", "authors": "Wang QT, Holmgren RA", "evidence": [ { "database": "Reactome", "id": "R-DME-216119", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-216119" } ], "reference": [ { "type": "PubMed", "id": "10529426", "url": "https://glygen.org/publication/PubMed/10529426" } ] }, { "title": "The genome sequence of Drosophila melanogaster.", "journal": "Science", "date": "2000", "authors": "Adams MD, Celniker SE, Holt RA, Evans CA, Gocayne JD, Amanatides PG, Scherer SE, Li PW, Hoskins RA, Galle RF, George RA, Lewis SE, Richards S, Ashburner M, Henderson SN, Sutton GG, Wortman JR, Yandell MD, Zhang Q, Chen LX, Brandon RC, Rogers YH, Blazej RG, Champe M, Pfeiffer BD, Wan KH, Doyle C, Baxter EG, Helt G, Nelson CR, Gabor GL, Abril JF, Agbayani A, An HJ, Andrews-Pfannkoch C, Baldwin D, Ballew RM, Basu A, Baxendale J, Bayraktaroglu L, Beasley EM, Beeson KY, Benos PV, Berman BP, Bhandari D, Bolshakov S, Borkova D, Botchan MR, Bouck J, Brokstein P, Brottier P, Burtis KC, Busam DA, Butler H, Cadieu E, Center A, Chandra I, Cherry JM, Cawley S, Dahlke C, Davenport LB, Davies P, de Pablos B, Delcher A, Deng Z, Mays AD, Dew I, Dietz SM, Dodson K, Doup LE, Downes M, Dugan-Rocha S, Dunkov BC, Dunn P, Durbin KJ, Evangelista CC, Ferraz C, Ferriera S, Fleischmann W, Fosler C, Gabrielian AE, Garg NS, Gelbart WM, Glasser K, Glodek A, Gong F, Gorrell JH, Gu Z, Guan P, Harris M, Harris NL, Harvey D, Heiman TJ, Hernandez JR, Houck J, Hostin D, Houston KA, Howland TJ, Wei MH, Ibegwam C, Jalali M, Kalush F, Karpen GH, Ke Z, Kennison JA, Ketchum KA, Kimmel BE, Kodira CD, Kraft C, Kravitz S, Kulp D, Lai Z, Lasko P, Lei Y, Levitsky AA, Li J, Li Z, Liang Y, Lin X, Liu X, Mattei B, McIntosh TC, McLeod MP, McPherson D, Merkulov G, Milshina NV, Mobarry C, Morris J, Moshrefi A, Mount SM, Moy M, Murphy B, Murphy L, Muzny DM, Nelson DL, Nelson DR, Nelson KA, Nixon K, Nusskern DR, Pacleb JM, Palazzolo M, Pittman GS, Pan S, Pollard J, Puri V, Reese MG, Reinert K, Remington K, Saunders RD, Scheeler F, Shen H, Shue BC, Siden-Kiamos I, Simpson M, Skupski MP, Smith T, Spier E, Spradling AC, Stapleton M, Strong R, Sun E, Svirskas R, Tector C, Turner R, Venter E, Wang AH, Wang X, Wang ZY, Wassarman DA, Weinstock GM, Weissenbach J, Williams SM, WoodageT, Worley KC, Wu D, Yang S, Yao QA, Ye J, Yeh RF, Zaveri JS, Zhan M, Zhang G, Zhao Q, Zheng L, Zheng XH, Zhong FN, Zhong W, Zhou X, Zhu S, Zhu X, Smith HO, Gibbs RA, Myers EW, Rubin GM, Venter JC", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" } ], "reference": [ { "type": "PubMed", "id": "10731132", "url": "https://glygen.org/publication/PubMed/10731132" } ] }, { "title": "Identification of a tetrameric hedgehog signaling complex.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Stegman MA, Vallance JE, Elangovan G, Sosinski J, Cheng Y, Robbins DJ", "evidence": [ { "database": "Reactome", "id": "R-DME-216119", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-216119" } ], "reference": [ { "type": "PubMed", "id": "10825151", "url": "https://glygen.org/publication/PubMed/10825151" } ] }, { "title": "The repressor and activator forms of Cubitus interruptus control Hedgehog target genes through common generic gli-binding sites.", "journal": "Development (Cambridge, England)", "date": "2000", "authors": "Muller B, Basler K", "evidence": [ { "database": "Reactome", "id": "R-DME-216119", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-216119" } ], "reference": [ { "type": "PubMed", "id": "10862738", "url": "https://glygen.org/publication/PubMed/10862738" } ] }, { "title": "Nuclear import of cubitus interruptus is regulated by hedgehog via a mechanism distinct from Ci stabilization and Ci activation.", "journal": "Development (Cambridge, England)", "date": "2000", "authors": "Wang QT, Holmgren RA", "evidence": [ { "database": "Reactome", "id": "R-DME-216119", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-216119" } ], "reference": [ { "type": "PubMed", "id": "10862750", "url": "https://glygen.org/publication/PubMed/10862750" } ] }, { "title": "Suppressor of fused opposes hedgehog signal transduction by impeding nuclear accumulation of the activator form of Cubitus interruptus.", "journal": "Development (Cambridge, England)", "date": "2000", "authors": "Methot N, Basler K", "evidence": [ { "database": "Reactome", "id": "R-DME-216119", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-216119" } ], "reference": [ { "type": "PubMed", "id": "10952898", "url": "https://glygen.org/publication/PubMed/10952898" } ] }, { "title": "Hedgehog induces opposite changes in turnover and subcellular localization of patched and smoothened.", "journal": "Cell", "date": "2000", "authors": "Denef N, Neubuser D, Perez L, Cohen SM", "evidence": [ { "database": "Reactome", "id": "R-DME-216217", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-216217" } ], "reference": [ { "type": "PubMed", "id": "10966113", "url": "https://glygen.org/publication/PubMed/10966113" } ] }, { "title": "Interactions with Costal2 and suppressor of fused regulate nuclear translocation and activity of cubitus interruptus.", "journal": "Genes & development", "date": "2000", "authors": "Wang G, Amanai K, Wang B, Jiang J", "evidence": [ { "database": "Reactome", "id": "R-DME-216119", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-216119" } ], "reference": [ { "type": "PubMed", "id": "11090136", "url": "https://glygen.org/publication/PubMed/11090136" } ] }, { "title": "The fused protein kinase regulates Hedgehog-stimulated transcriptional activation in Drosophila Schneider 2 cells.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Fukumoto T, Watanabe-Fukunaga R, Fujisawa K, Nagata S, Fukunaga R", "evidence": [ { "database": "Reactome", "id": "R-DME-216217", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-216217" } ], "reference": [ { "type": "PubMed", "id": "11495917", "url": "https://glygen.org/publication/PubMed/11495917" } ] }, { "title": "Hedgehog-stimulated phosphorylation of the kinesin-related protein Costal2 is mediated by the serine/threonine kinase fused.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Nybakken KE, Turck CW, Robbins DJ, Bishop JM", "evidence": [ { "database": "Reactome", "id": "R-DME-216217", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-216217" } ], "reference": [ { "type": "PubMed", "id": "11934882", "url": "https://glygen.org/publication/PubMed/11934882" } ] }, { "title": "The acetyltransferase activity of CBP is required for wingless activation and H4 acetylation in Drosophila melanogaster.", "journal": "Molecular and cellular biology", "date": "2002", "authors": "Ludlam WH, Taylor MH, Tanner KG, Denu JM, Goodman RH, Smolik SM", "evidence": [ { "database": "Reactome", "id": "R-DME-216119", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-216119" } ], "reference": [ { "type": "PubMed", "id": "11997517", "url": "https://glygen.org/publication/PubMed/11997517" } ] }, { "title": "Annotation of the Drosophila melanogaster euchromatic genome: a systematic review.", "journal": "Genome Biol.", "date": "2002", "authors": "Misra S, Crosby MA, Mungall CJ, Matthews BB, Campbell KS, Hradecky P, Huang Y, Kaminker JS, Millburn GH, Prochnik SE, Smith CD, Tupy JL, Whitfied EJ, Bayraktaroglu L, Berman BP, Bettencourt BR, Celniker SE, de Grey AD, Drysdale RA, Harris NL, Richter J, Russo S, Schroeder AJ, Shu SQ, Stapleton M, Yamada C, Ashburner M, Gelbart WM, Rubin GM, Lewis SE", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" } ], "reference": [ { "type": "PubMed", "id": "12537572", "url": "https://glygen.org/publication/PubMed/12537572" } ] }, { "title": "Identification of Hedgehog pathway components by RNAi in Drosophila cultured cells.", "journal": "Science (New York, N.Y.)", "date": "2003", "authors": "Lum L, Yao S, Mozer B, Rovescalli A, Von Kessler D, Nirenberg M, Beachy PA", "evidence": [ { "database": "Reactome", "id": "R-DME-209214", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209214" } ], "reference": [ { "type": "PubMed", "id": "12663920", "url": "https://glygen.org/publication/PubMed/12663920" } ] }, { "title": "Stability and association of Smoothened, Costal2 and Fused with Cubitus interruptus are regulated by Hedgehog.", "journal": "Nature cell biology", "date": "2003", "authors": "Ruel L, Rodriguez R, Gallet A, Lavenant-Staccini L, Therond PP", "evidence": [ { "database": "Reactome", "id": "R-DME-216119", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-216119" } ], "reference": [ { "type": "PubMed", "id": "14523402", "url": "https://glygen.org/publication/PubMed/14523402" } ] }, { "title": "Smoothened transduces Hedgehog signal by physically interacting with Costal2/Fused complex through its C-terminal tail.", "journal": "Genes & development", "date": "2003", "authors": "Jia J, Tong C, Jiang J", "evidence": [ { "database": "Reactome", "id": "R-DME-209338", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209338" } ], "reference": [ { "type": "PubMed", "id": "14597665", "url": "https://glygen.org/publication/PubMed/14597665" } ] }, { "title": "Identification of a functional interaction between the transmembrane protein Smoothened and the kinesin-related protein Costal2.", "journal": "Current biology : CB", "date": "2003", "authors": "Ogden SK, Ascano M Jr, Stegman MA, Suber LM, Hooper JE, Robbins DJ", "evidence": [ { "database": "Reactome", "id": "R-DME-209338", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209338" } ], "reference": [ { "type": "PubMed", "id": "14614827", "url": "https://glygen.org/publication/PubMed/14614827" } ] }, { "title": "Hedgehog signal transduction via Smoothened association with a cytoplasmic complex scaffolded by the atypical kinesin, Costal-2.", "journal": "Molecular cell", "date": "2003", "authors": "Lum L, Zhang C, Oh S, Mann RK, von Kessler DP, Taipale J, Weis-Garcia F, Gong R, Wang B, Beachy PA", "evidence": [ { "database": "Reactome", "id": "R-DME-216119", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-216119" } ], "reference": [ { "type": "PubMed", "id": "14636583", "url": "https://glygen.org/publication/PubMed/14636583" } ] }, { "title": "Multiple Cos2/Ci interactions regulate Ci subcellular localization through microtubule dependent and independent mechanisms.", "journal": "Developmental biology", "date": "2004", "authors": "Wang G, Jiang J", "evidence": [ { "database": "Reactome", "id": "R-DME-216119", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-216119" } ], "reference": [ { "type": "PubMed", "id": "15063184", "url": "https://glygen.org/publication/PubMed/15063184" } ] }, { "title": "Reading the Hedgehog morphogen gradient by measuring the ratio of bound to unbound Patched protein.", "journal": "Nature", "date": "2004", "authors": "Casali A, Struhl G", "evidence": [ { "database": "Reactome", "id": "R-DME-209214", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209214" } ], "reference": [ { "type": "PubMed", "id": "15300262", "url": "https://glygen.org/publication/PubMed/15300262" } ] }, { "title": "Functions of heparan sulfate proteoglycans in cell signaling during development.", "journal": "Development (Cambridge, England)", "date": "2004", "authors": "Lin X", "evidence": [ { "database": "Reactome", "id": "R-DME-209214", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209214" } ], "reference": [ { "type": "PubMed", "id": "15563523", "url": "https://glygen.org/publication/PubMed/15563523" } ] }, { "title": "Drosophila Smoothened phosphorylation sites essential for Hedgehog signal transduction.", "journal": "Nature cell biology", "date": "2005", "authors": "Apionishev S, Katanayeva NM, Marks SA, Kalderon D, Tomlinson A", "evidence": [ { "database": "Reactome", "id": "R-DME-209214", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209214" } ], "reference": [ { "type": "PubMed", "id": "15592457", "url": "https://glygen.org/publication/PubMed/15592457" } ] }, { "title": "Extensive phosphorylation of Smoothened in Hedgehog pathway activation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Zhang C, Williams EH, Guo Y, Lum L, Beachy PA", "evidence": [ { "database": "Reactome", "id": "R-DME-209214", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209214" } ], "reference": [ { "type": "PubMed", "id": "15598741", "url": "https://glygen.org/publication/PubMed/15598741" } ] }, { "title": "Hedgehog signalling activity of Smoothened requires phosphorylation by protein kinase A and casein kinase I.", "journal": "Nature", "date": "2004", "authors": "Jia J, Tong C, Wang B, Luo L, Jiang J", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" }, { "database": "Reactome", "id": "R-DME-209214", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209214" } ], "reference": [ { "type": "PubMed", "id": "15616566", "url": "https://glygen.org/publication/PubMed/15616566" } ] }, { "title": "Hedgehog-regulated Costal2-kinase complexes control phosphorylation and proteolytic processing of Cubitus interruptus.", "journal": "Dev. Cell", "date": "2005", "authors": "Zhang W, Zhao Y, Tong C, Wang G, Wang B, Jia J, Jiang J", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" }, { "database": "Reactome", "id": "R-DME-216217", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-216217" } ], "reference": [ { "type": "PubMed", "id": "15691767", "url": "https://glygen.org/publication/PubMed/15691767" } ] }, { "title": "Differential regulation of Hedgehog target gene transcription by Costal2 and Suppressor of Fused.", "journal": "Development (Cambridge, England)", "date": "2005", "authors": "Ho KS, Suyama K, Fish M, Scott MP", "evidence": [ { "database": "Reactome", "id": "R-DME-216119", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-216119" } ], "reference": [ { "type": "PubMed", "id": "15750186", "url": "https://glygen.org/publication/PubMed/15750186" } ] }, { "title": "Lipoprotein particles are required for Hedgehog and Wingless signalling.", "journal": "Nature", "date": "2005", "authors": "Panakova D, Sprong H, Marois E, Thiele C, Eaton S", "evidence": [ { "database": "Reactome", "id": "R-DME-209214", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209214" } ], "reference": [ { "type": "PubMed", "id": "15875013", "url": "https://glygen.org/publication/PubMed/15875013" } ] }, { "title": "Mechanisms of Hedgehog gradient formation and interpretation.", "journal": "Journal of neurobiology", "date": "2005", "authors": "Torroja C, Gorfinkiel N, Guerrero I", "evidence": [ { "database": "Reactome", "id": "R-DME-209214", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209214" } ], "reference": [ { "type": "PubMed", "id": "16041759", "url": "https://glygen.org/publication/PubMed/16041759" } ] }, { "title": "The ihog cell-surface proteins bind Hedgehog and mediate pathway activation.", "journal": "Cell", "date": "2006", "authors": "Yao S, Lum L, Beachy P", "evidence": [ { "database": "Reactome", "id": "R-DME-209214", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209214" } ], "reference": [ { "type": "PubMed", "id": "16630821", "url": "https://glygen.org/publication/PubMed/16630821" } ] }, { "title": "Structure of a heparin-dependent complex of Hedgehog and Ihog.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "McLellan JS, Yao S, Zheng X, Geisbrecht BV, Ghirlando R, Beachy PA, Leahy DJ", "evidence": [ { "database": "Reactome", "id": "R-DME-209214", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209214" } ], "reference": [ { "type": "PubMed", "id": "17077139", "url": "https://glygen.org/publication/PubMed/17077139" } ] }, { "title": "The last 59 amino acids of Smoothened cytoplasmic tail directly bind the protein kinase Fused and negatively regulate the Hedgehog pathway.", "journal": "Developmental biology", "date": "2007", "authors": "Malpel S, Claret S, Sanial M, Brigui A, Piolot T, Daviet L, Martin-Lanneree S, Plessis A", "evidence": [ { "database": "Reactome", "id": "R-DME-209338", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209338" } ], "reference": [ { "type": "PubMed", "id": "17182028", "url": "https://glygen.org/publication/PubMed/17182028" } ] }, { "title": "Fused-Costal2 protein complex regulates Hedgehog-induced Smo phosphorylation and cell-surface accumulation.", "journal": "Genes & development", "date": "2007", "authors": "Liu Y, Cao X, Jiang J, Jia J", "evidence": [ { "database": "Reactome", "id": "R-DME-216217", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-216217" } ], "reference": [ { "type": "PubMed", "id": "17671093", "url": "https://glygen.org/publication/PubMed/17671093" } ] }, { "title": "Phosphorylation of the atypical kinesin Costal2 by the kinase Fused induces the partial disassembly of the Smoothened-Fused-Costal2-Cubitus interruptus complex in Hedgehog signalling.", "journal": "Development (Cambridge, England)", "date": "2007", "authors": "Ruel L, Gallet A, Raisin S, Truchi A, Staccini-Lavenant L, Cervantes A, Therond PP", "evidence": [ { "database": "Reactome", "id": "R-DME-216217", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-216217" } ], "reference": [ { "type": "PubMed", "id": "17881487", "url": "https://glygen.org/publication/PubMed/17881487" } ] }, { "title": "Regulation of Ci-SCFSlimb binding, Ci proteolysis, and hedgehog pathway activity by Ci phosphorylation.", "journal": "Developmental cell", "date": "2007", "authors": "Smelkinson MG, Zhou Q, Kalderon D", "evidence": [ { "database": "Reactome", "id": "R-DME-216119", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-216119" } ], "reference": [ { "type": "PubMed", "id": "17925225", "url": "https://glygen.org/publication/PubMed/17925225" } ] }, { "title": "Hedgehog regulates smoothened activity by inducing a conformational switch.", "journal": "Nature", "date": "2007", "authors": "Zhao Y, Tong C, Jiang J", "evidence": [ { "database": "Reactome", "id": "R-DME-216217", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-216217" } ], "reference": [ { "type": "PubMed", "id": "17960137", "url": "https://glygen.org/publication/PubMed/17960137" } ] }, { "title": "Hedgehog signaling: a smoothened conformational switch.", "journal": "Current biology : CB", "date": "2008", "authors": "Kalderon D", "evidence": [ { "database": "Reactome", "id": "R-DME-216217", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-216217" } ], "reference": [ { "type": "PubMed", "id": "18211840", "url": "https://glygen.org/publication/PubMed/18211840" } ] }, { "title": "Phosphoproteome analysis of Drosophila melanogaster embryos.", "journal": "Journal of proteome research", "date": "2008", "authors": "Zhai B, Villen J, Beausoleil SA, Mintseris J, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" }, { "database": "iPTMnet", "id": "P91682", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P91682" } ], "reference": [ { "type": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" } ] }, { "title": "Hedgehog-regulated ubiquitination controls smoothened trafficking and cell surface expression in Drosophila.", "journal": "PLoS biology", "date": "2012", "authors": "Li S, Chen Y, Shi Q, Yue T, Wang B, Jiang J", "evidence": [ { "database": "iPTMnet", "id": "P91682", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P91682" } ], "reference": [ { "type": "PubMed", "id": "22253574", "url": "https://glygen.org/publication/PubMed/22253574" } ] }, { "title": "Structural insights into the role of the Smoothened cysteine-rich domain in Hedgehog signalling.", "journal": "Nat. Commun.", "date": "2013", "authors": "Lee H.J., Grace C.R., Bao J., Zheng J.J., Rana R., Ogden S.K., Carroll C.E., Guibao C.D., Marada S.", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" } ], "reference": [ { "type": "PubMed", "id": "24351982", "url": "https://glygen.org/publication/PubMed/24351982" } ] }, { "title": "Cilia-mediated hedgehog signaling in Drosophila.", "journal": "Cell Rep.", "date": "2014", "authors": "Schultz S.W., Alenius M., Alkhori L., Kuzhandaivel A.", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" } ], "reference": [ { "type": "PubMed", "id": "24768000", "url": "https://glygen.org/publication/PubMed/24768000" } ] }, { "title": "Hedgehog-regulated atypical PKC promotes phosphorylation and activation of Smoothened and Cubitus interruptus in Drosophila.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2014", "authors": "Jiang K, Liu Y, Fan J, Epperly G, Gao T, Jiang J, Jia J", "evidence": [ { "database": "iPTMnet", "id": "P91682", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P91682" } ], "reference": [ { "type": "PubMed", "id": "25349414", "url": "https://glygen.org/publication/PubMed/25349414" } ] }, { "title": "Bacterial uracil modulates Drosophila DUOX-dependent gut immunity via Hedgehog-induced signaling endosomes.", "journal": "Cell Host Microbe", "date": "2015", "authors": "Lee K.A., Kim B., Kim D.H., Kim S.H., Kim E.K., Lee W.J., You H., Hwang D., Ryu J.H., Bhin J.", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" } ], "reference": [ { "type": "PubMed", "id": "25639794", "url": "https://glygen.org/publication/PubMed/25639794" } ] }, { "title": "smoothened encodes a receptor-like serpentine protein required for hedgehog signalling.", "journal": "Nature", "date": "1996", "authors": "Ingham P.W., van den Heuvel M.", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" } ], "reference": [ { "type": "PubMed", "id": "8700230", "url": "https://glygen.org/publication/PubMed/8700230" } ] }, { "title": "The Drosophila smoothened gene encodes a seven-pass membrane protein, a putative receptor for the hedgehog signal.", "journal": "Cell", "date": "1996", "authors": "Hooper J.E., Noll M., Alcedo J., Ayzenzon M., von Ohlen T.", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" } ], "reference": [ { "type": "PubMed", "id": "8706127", "url": "https://glygen.org/publication/PubMed/8706127" } ] }, { "title": "Transcriptional activation of hedgehog target genes in Drosophila is mediated directly by the cubitus interruptus protein, a member of the GLI family of zinc finger DNA-binding proteins.", "journal": "Genes & development", "date": "1996", "authors": "Alexandre C, Jacinto A, Ingham PW", "evidence": [ { "database": "Reactome", "id": "R-DME-216119", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-216119" } ], "reference": [ { "type": "PubMed", "id": "8769644", "url": "https://glygen.org/publication/PubMed/8769644" } ] }, { "title": "Dual roles for patched in sequestering and transducing Hedgehog.", "journal": "Cell", "date": "1996", "authors": "Chen Y, Struhl G", "evidence": [ { "database": "Reactome", "id": "R-DME-209214", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209214" } ], "reference": [ { "type": "PubMed", "id": "8898207", "url": "https://glygen.org/publication/PubMed/8898207" } ] }, { "title": "The tumour-suppressor gene patched encodes a candidate receptor for Sonic hedgehog.", "journal": "Nature", "date": "1996", "authors": "Stone DM, Hynes M, Armanini M, Swanson TA, Gu Q, Johnson RL, Scott MP, Pennica D, Goddard A, Phillips H, Noll M, Hooper JE, de Sauvage F, Rosenthal A", "evidence": [ { "database": "Reactome", "id": "R-DME-209214", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209214" } ], "reference": [ { "type": "PubMed", "id": "8906787", "url": "https://glygen.org/publication/PubMed/8906787" } ] }, { "title": "Biochemical evidence that patched is the Hedgehog receptor.", "journal": "Nature", "date": "1996", "authors": "Marigo V, Davey RA, Zuo Y, Cunningham JM, Tabin CJ", "evidence": [ { "database": "Reactome", "id": "R-DME-209214", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209214" } ], "reference": [ { "type": "PubMed", "id": "8906794", "url": "https://glygen.org/publication/PubMed/8906794" } ] }, { "title": "Drosophila CBP is a co-activator of cubitus interruptus in hedgehog signalling.", "journal": "Nature", "date": "1997", "authors": "Akimaru H, Chen Y, Dai P, Hou DX, Nonaka M, Smolik SM, Armstrong S, Goodman RH, Ishii S", "evidence": [ { "database": "Reactome", "id": "R-DME-216119", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-216119" } ], "reference": [ { "type": "PubMed", "id": "9109493", "url": "https://glygen.org/publication/PubMed/9109493" } ] }, { "title": "Hedgehog signaling regulates transcription through cubitus interruptus, a sequence-specific DNA binding protein.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1997", "authors": "Von Ohlen T, Lessing D, Nusse R, Hooper JE", "evidence": [ { "database": "Reactome", "id": "R-DME-216119", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-216119" } ], "reference": [ { "type": "PubMed", "id": "9122207", "url": "https://glygen.org/publication/PubMed/9122207" } ] }, { "title": "Hedgehog signaling regulates transcription through Gli/Ci binding sites in the wingless enhancer.", "journal": "Mechanisms of development", "date": "1997", "authors": "Von Ohlen T, Hooper JE", "evidence": [ { "database": "Reactome", "id": "R-DME-216119", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-216119" } ], "reference": [ { "type": "PubMed", "id": "9431812", "url": "https://glygen.org/publication/PubMed/9431812" } ] } ], "pathway": [ { "id": "dme:Dmel_CG11561", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+dme:Dmel_CG11561", "resource": "KEGG Pathway" }, { "id": "R-DME-209214", "name": "Phosphorylation of SMO", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209214", "resource": "Reactome", "description": "Phosphorylation of SMO" }, { "id": "R-DME-209338", "name": "Assembly of the 'signalling complexes'", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209338", "resource": "Reactome", "description": "Assembly of the 'signalling complexes'" }, { "id": "R-DME-216119", "name": "Activation of CI", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-216119", "resource": "Reactome", "description": "Activation of CI" }, { "id": "R-DME-216217", "name": "Activation of SMO", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-216217", "resource": "Reactome", "description": "Activation of SMO" }, { "id": "R-DME-5610787", "name": "Hedgehog 'off' state", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-5610787", "resource": "Reactome", "description": "Hedgehog 'off' state" }, { "id": "R-DME-5635838", "name": "Activation of SMO", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-5635838", "resource": "Reactome", "description": "Activation of SMO" } ], "orthologs": [], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 6, "go_terms": [ { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" } ], "pmid": "" }, { "name": "phosphatidylinositol-4-phosphate binding", "id": "GO:0070273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070273", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" } ], "pmid": "" }, { "name": "patched binding", "id": "GO:0005113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005113", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 22, "go_terms": [ { "name": "adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway", "id": "GO:0007193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007193", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" } ], "pmid": "" }, { "name": "regulation of mitotic cell cycle", "id": "GO:0007346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007346", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" } ], "pmid": "" }, { "name": "positive regulation of protein localization to plasma membrane", "id": "GO:1903078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903078", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" } ], "pmid": "" }, { "name": "negative regulation of G1/S transition of mitotic cell cycle", "id": "GO:2000134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000134", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" } ], "pmid": "" }, { "name": "smoothened signaling pathway", "id": "GO:0007224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007224", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" } ], "pmid": "" }, { "name": "pattern specification process", "id": "GO:0007389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007389", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" } ], "pmid": "" }, { "name": "somatic stem cell population maintenance", "id": "GO:0035019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035019", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" } ], "pmid": "" }, { "name": "mucosal immune response", "id": "GO:0002385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002385", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" } ], "pmid": "" }, { "name": "commissural neuron axon guidance", "id": "GO:0071679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071679", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" } ], "pmid": "" }, { "name": "regulation of stem cell differentiation", "id": "GO:2000736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000736", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" } ], "pmid": "" }, { "name": "compound eye morphogenesis", "id": "GO:0001745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001745", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" } ], "pmid": "" }, { "name": "Bolwig's organ morphogenesis", "id": "GO:0001746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001746", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" } ], "pmid": "" }, { "name": "blastoderm segmentation", "id": "GO:0007350", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007350", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" } ], "pmid": "" }, { "name": "segment polarity determination", "id": "GO:0007367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007367", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" } ], "pmid": "" }, { "name": "eye-antennal disc morphogenesis", "id": "GO:0007455", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007455", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" } ], "pmid": "" }, { "name": "imaginal disc-derived wing morphogenesis", "id": "GO:0007476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007476", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" } ], "pmid": "" }, { "name": "follicle cell of egg chamber development", "id": "GO:0030707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030707", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" } ], "pmid": "" }, { "name": "anterior/posterior lineage restriction, imaginal disc", "id": "GO:0048099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048099", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" } ], "pmid": "" }, { "name": "wing disc anterior/posterior pattern formation", "id": "GO:0048100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048100", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 184, "end_pos": 186, "annotation": "n_glycosylation_sequon" }, { "start_pos": 195, "end_pos": 197, "annotation": "n_glycosylation_sequon" }, { "start_pos": 213, "end_pos": 215, "annotation": "n_glycosylation_sequon" }, { "start_pos": 336, "end_pos": 338, "annotation": "n_glycosylation_sequon" }, { "start_pos": 419, "end_pos": 421, "annotation": "n_glycosylation_sequon" }, { "start_pos": 55, "end_pos": 57, "annotation": "n_glycosylation_sequon" }, { "start_pos": 625, "end_pos": 627, "annotation": "n_glycosylation_sequon" }, { "start_pos": 657, "end_pos": 659, "annotation": "n_glycosylation_sequon" }, { "start_pos": 758, "end_pos": 760, "annotation": "n_glycosylation_sequon" }, { "start_pos": 776, "end_pos": 778, "annotation": "n_glycosylation_sequon" }, { "start_pos": 874, "end_pos": 876, "annotation": "n_glycosylation_sequon" }, { "start_pos": 917, "end_pos": 919, "annotation": "n_glycosylation_sequon" }, { "start_pos": 938, "end_pos": 940, "annotation": "n_glycosylation_sequon" }, { "start_pos": 95, "end_pos": 97, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Phosphorylation by CkIalpha and PKA regulates smo accumulation at the cell surface and its signaling activity in response to hh.", "evidence": [ { "database": "UniProtKB", "id": "P91682", "url": "https://www.uniprot.org/uniprot/P91682" }, { "database": "PubMed", "id": "15616566", "url": "https://glygen.org/publication/PubMed/15616566" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 7 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 7 }, { "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": 7 }, { "field": "total_sites", "count": 7 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 7 }, { "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": 10 }, { "field": "total_sites", "count": 10 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "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": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 52 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }