{ "uniprot_canonical_ac": "P47872-1", "uniprot_ac": "P47872", "uniprot_id": "SCTR_HUMAN", "mass": { "chemical_mass": 50207.0, "monoisotopic_mass": 50207.0 }, "refseq": { "ac": "NP_002971", "name": "secretin receptor precursor", "summary": "The protein encoded by this gene is a G protein-coupled receptor and belongs to the glucagon-VIP-secretin receptor family. It binds secretin which is the most potent regulator of pancreatic bicarbonate, electrolyte and volume secretion. Secretin and its receptor are suggested to be involved in pancreatic cancer and autism. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002971" }, "gene_names": [ { "name": "SCTR", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P47872", "id": "P47872" }, { "name": "SCTR", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002971", "id": "NP_002971" }, { "name": "SR", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002971", "id": "NP_002971" } ], "protein_names": [ { "name": "Secretin receptor", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P47872" }, { "name": "SCT-R", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P47872" }, { "name": "pancreatic secretin receptor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002971", "id": "NP_002971" }, { "name": "secretin receptor precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002971", "id": "NP_002971" } ], "function": [ { "annotation": "High secretin/secretin receptor signaling mediates biliary damage and liver fibrosis in early-stage primary biliary cholangitis.", "evidence": [ { "database": "RefSeq", "id": "NP_002971", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002971" }, { "database": "PubMed", "id": "31251081", "url": "https://glygen.org/publication/PubMed/31251081" } ] }, { "annotation": "Inhibition of Secretin/Secretin Receptor Axis Ameliorates NAFLD Phenotypes.", "evidence": [ { "database": "RefSeq", "id": "NP_002971", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002971" }, { "database": "PubMed", "id": "33928675", "url": "https://glygen.org/publication/PubMed/33928675" } ] }, { "annotation": "Receptor for secretin (SCT), which is involved in different processes such as regulation of the pH of the duodenal content, food intake and water homeostasis (PubMed:7612008, PubMed:25332973). The activity of this receptor is mediated by G proteins which activate adenylyl cyclase (By similarity). Upon binding to secretin, regulates the pH of the duodenum by (1) inhibiting the secretion of gastric acid from the parietal cells of the stomach and (2) stimulating the production of bicarbonate (NaHCO(3)) from the ductal cells of the pancreas (By similarity). In addition to regulating the pH of the duodenal content, plays a central role in diet induced thermogenesis: acts as a non-sympathetic brown fat (BAT) activator mediating prandial thermogenesis, which consequentially induces satiation. Mechanistically, secretin released by the gut after a meal binds to secretin receptor (SCTR) in brown adipocytes, activating brown fat thermogenesis by stimulating lipolysis, which is sensed in the brain and promotes satiation. Also able to stimulate lipolysis in white adipocytes. Also plays an important role in cellular osmoregulation by regulating renal water reabsorption. Also plays a role in the central nervous system: required for synaptic plasticity (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P47872", "url": "https://www.uniprot.org/uniprot/P47872#function" }, { "database": "PubMed", "id": "25332973", "url": "https://glygen.org/publication/PubMed/25332973" }, { "database": "PubMed", "id": "7612008", "url": "https://glygen.org/publication/PubMed/7612008" }, { "database": "UniProtKB", "id": "Q5FWI2", "url": "https://www.uniprot.org/uniprot/Q5FWI2#function" }, { "database": "UniProtKB", "id": "P11384", "url": "https://www.uniprot.org/uniprot/P11384#function" } ] }, { "annotation": "SCTR hypermethylation is a diagnostic biomarker in colorectal cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_002971", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002971" }, { "database": "PubMed", "id": "32970347", "url": "https://glygen.org/publication/PubMed/32970347" } ] }, { "annotation": "Structure and dynamics of the active Gs-coupled human secretin receptor. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002971", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002971" }, { "database": "PubMed", "id": "32811827", "url": "https://glygen.org/publication/PubMed/32811827" } ] }, { "annotation": "Structure of the human secretin receptor coupled to an engineered heterotrimeric G protein.", "evidence": [ { "database": "RefSeq", "id": "NP_002971", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002971" }, { "database": "PubMed", "id": "33008599", "url": "https://glygen.org/publication/PubMed/33008599" } ] }, { "annotation": "The protein encoded by this gene is a G protein-coupled receptor and belongs to the glucagon-VIP-secretin receptor family. It binds secretin which is the most potent regulator of pancreatic bicarbonate, electrolyte and volume secretion. Secretin and its receptor are suggested to be involved in pancreatic cancer and autism. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_002971", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002971" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs780404082", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780404082" }, { "id": "rs780404082", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780404082" }, { "id": "rs780404082", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780404082" } ], "glycoeffect": [ "n-glyco-sequon-loss", "n-glyco-sequon-gain" ], "start_pos": 291, "end_pos": 291, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->SAS); n-glyco-sequon-gain (NAN->NAS).", "chr_id": "2", "chr_pos": "119452059", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N291", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1192586683", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1192586683" }, { "id": "rs1192586683", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1192586683#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 100, "end_pos": 100, "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->HGS).", "chr_id": "2", "chr_pos": "119478814", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N100", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1268178640", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1268178640" }, { "id": "rs1268178640", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1268178640" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 102, "end_pos": 102, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->NGF).", "chr_id": "2", "chr_pos": "119473553", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S102", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs375106879", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375106879" }, { "id": "rs375106879", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375106879" }, { "id": "rs375106879", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs375106879#frequency_tab" }, { "id": "rs375106879", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375106879" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 106, "end_pos": 106, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCT->KCT).", "chr_id": "2", "chr_pos": "119473540", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N106", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775238828", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775238828" }, { "id": "rs775238828", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775238828" }, { "id": "rs775238828", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775238828#frequency_tab" }, { "id": "rs775238828", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775238828" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 108, "end_pos": 108, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCT->NCP).", "chr_id": "2", "chr_pos": "119473536", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T108", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1220622411", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1220622411" }, { "id": "rs1220622411", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1220622411" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 128, "end_pos": 128, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDS->DDS).", "chr_id": "2", "chr_pos": "119473476", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N128", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs147612264", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147612264" }, { "id": "rs147612264", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs147612264" }, { "id": "rs147612264", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147612264" }, { "id": "rs147612264", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs147612264#frequency_tab" }, { "id": "rs147612264", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs147612264" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 128, "end_pos": 128, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDS->KDS).", "chr_id": "2", "chr_pos": "119473474", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000998", "site_lbl": "N128", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754371252", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754371252" }, { "id": "rs754371252", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754371252" }, { "id": "rs754371252", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754371252#frequency_tab" }, { "id": "rs754371252", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754371252" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 129, "end_pos": 129, "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "2", "chr_pos": "119473473", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D129", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs139738116", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139738116" }, { "id": "rs139738116", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139738116" }, { "id": "rs139738116", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs139738116#frequency_tab" }, { "id": "rs139738116", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs139738116" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 130, "end_pos": 130, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDS->NDF).", "chr_id": "2", "chr_pos": "119473469", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S130", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766007188", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766007188" }, { "id": "rs766007188", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766007188" }, { "id": "rs766007188", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766007188#frequency_tab" }, { "id": "rs766007188", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766007188" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 150, "end_pos": 150, "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (YSS->NSS).", "chr_id": "2", "chr_pos": "119465844", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y150", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P47872", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P47872" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 194, "end_pos": 194, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NFI->NFS).", "chr_id": "2", "chr_pos": "119464178", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "I194", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs753737788", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753737788" }, { "id": "rs753737788", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753737788" }, { "id": "rs753737788", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753737788" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 293, "end_pos": 293, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->NAF).", "chr_id": "2", "chr_pos": "119452053", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S293", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757157813", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757157813" }, { "id": "rs757157813", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757157813" }, { "id": "rs757157813", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757157813#frequency_tab" }, { "id": "rs757157813", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757157813" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 293, "end_pos": 293, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->NAP).", "chr_id": "2", "chr_pos": "119452054", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S293", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773794227", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773794227" }, { "id": "rs773794227", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773794227" }, { "id": "rs773794227", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773794227" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 303, "end_pos": 303, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (ILS->NLS).", "chr_id": "2", "chr_pos": "119452023", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I303", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758416938", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758416938" }, { "id": "rs758416938", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758416938" }, { "id": "rs758416938", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758416938#frequency_tab" }, { "id": "rs758416938", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758416938" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 424, "end_pos": 424, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KAS->NAS).", "chr_id": "2", "chr_pos": "119440168", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K424", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "66.22", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000080293", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000080293" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "41.27", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000080293", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000080293" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "66.9", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000080293", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000080293" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000080293", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000080293" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "66.76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000080293", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000080293" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "66.55", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000080293", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000080293" 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"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", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", 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