{ "uniprot_canonical_ac": "P13945-1", "uniprot_ac": "P13945", "uniprot_id": "ADRB3_HUMAN", "mass": { "chemical_mass": 43519.0, "monoisotopic_mass": 43519.0 }, "refseq": { "ac": "NP_000016", "name": "beta-3 adrenergic receptor", "summary": "The protein encoded by this gene belongs to the family of beta adrenergic receptors, which mediate catecholamine-induced activation of adenylate cyclase through the action of G proteins. This receptor is located mainly in the adipose tissue and is involved in the regulation of lipolysis and thermogenesis. Obesity and bodyweight-related disorders are correlated with certain polymorphisms in three subtypes of beta-adrenoceptor, among them, the ADRB3 gene.[provided by RefSeq, Oct 2019].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000016" }, "gene_names": [ { "name": "ADRB3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P13945", "id": "P13945" }, { "name": "ADRB3R", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P13945", "id": "P13945" }, { "name": "ADRB3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000016", "id": "NP_000016" }, { "name": "B3AR", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P13945", "id": "P13945" }, { "name": "BETA3AR", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000016", "id": "NP_000016" } ], "protein_names": [ { "name": "Beta-3 adrenergic receptor", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P13945" }, { "name": "Beta-3 adrenoceptor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13945" }, { "name": "Beta-3 adrenoreceptor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13945" }, { "name": "beta-3 adrenergic receptor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000016", "id": "NP_000016" }, { "name": "beta-3 adrenoceptor; beta-3 adrenoreceptor; adrenergic, beta-3-, receptor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000016", "id": "NP_000016" } ], "function": [ { "annotation": "Association of an ADRB3 Variant with Coronary Artery Disease Within the Chinese Han Population: Construction of a Predictive Nomogram Model.", "evidence": [ { "database": "RefSeq", "id": "NP_000016", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000016" }, { "database": "PubMed", "id": "36989522", "url": "https://glygen.org/publication/PubMed/36989522" } ] }, { "annotation": "Beta-adrenergic receptors mediate the catecholamine-induced activation of adenylate cyclase through the action of G proteins. Beta-3 is involved in the regulation of lipolysis and thermogenesis.", "evidence": [ { "database": "UniProtKB", "id": "P13945", "url": "https://www.uniprot.org/uniprot/P13945#function" } ] }, { "annotation": "Beta3AR-Dependent Brain-Derived Neurotrophic Factor (BDNF) Generation Limits Chronic Postischemic Heart Failure.", "evidence": [ { "database": "RefSeq", "id": "NP_000016", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000016" }, { "database": "PubMed", "id": "36884028", "url": "https://glygen.org/publication/PubMed/36884028" } ] }, { "annotation": "Effects of the Trp64Arg Polymorphism in the ADRB3 Gene on Body Composition, Cardiorespiratory Fitness, and Physical Activity in Healthy Adults. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000016", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000016" }, { "database": "PubMed", "id": "37628593", "url": "https://glygen.org/publication/PubMed/37628593" } ] }, { "annotation": "The beta3 adrenoceptor in proliferative retinopathies: 'Cinderella' steps out of its family shadow. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_000016", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000016" }, { "database": "PubMed", "id": "36863427", "url": "https://glygen.org/publication/PubMed/36863427" } ] }, { "annotation": "The protein encoded by this gene belongs to the family of beta adrenergic receptors, which mediate catecholamine-induced activation of adenylate cyclase through the action of G proteins. This receptor is located mainly in the adipose tissue and is involved in the regulation of lipolysis and thermogenesis. Obesity and bodyweight-related disorders are correlated with certain polymorphisms in three subtypes of beta-adrenoceptor, among them, the ADRB3 gene.[provided by RefSeq, Oct 2019].", "evidence": [ { "database": "RefSeq", "id": "NP_000016", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000016" } ] }, { "annotation": "Urinary beta 3-adrenoceptor as a diagnostic biomarker for overactive bladder in women. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000016", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000016" }, { "database": "PubMed", "id": "37938600", "url": "https://glygen.org/publication/PubMed/37938600" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1009625001", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1009625001" }, { "id": "rs1009625001", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1009625001#frequency_tab" }, { "id": "rs1009625001", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1009625001" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 10, "end_pos": 10, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->NSC).", "chr_id": "8", "chr_pos": "37966441", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S10", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200305091", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200305091" }, { "id": "rs200305091", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs200305091" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 10, "end_pos": 10, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->NSP).", "chr_id": "8", "chr_pos": "37966442", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S10", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs556736481", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs556736481" }, { "id": "rs556736481", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs556736481" }, { "id": "rs556736481", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs556736481#frequency_tab" }, { "id": "rs556736481", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs556736481" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 203, "end_pos": 203, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NMP->NMT).", "chr_id": "8", "chr_pos": "37965863", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "P203", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P13945", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P13945" }, { "id": "rs201607471", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201607471" }, { "id": "rs201607471", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201607471" }, { "id": "rs201607471", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201607471" }, { "id": "rs201607471", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201607471" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 25, "end_pos": 25, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NTA->NTT).", "chr_id": "8", "chr_pos": "37966397", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A25", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1295615528", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1295615528" }, { "id": "rs1295615528", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1295615528" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 28, "end_pos": 28, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTS->NTG).", "chr_id": "8", "chr_pos": "37966388", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S28", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P13945", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P13945" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 340, "end_pos": 340, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NSA->NST).", "chr_id": "8", "chr_pos": "37965452", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A340", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "45.73", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000188778", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188778" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "55.96", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000188778", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188778" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "55.06", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000188778", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188778" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "61.5", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000188778", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188778" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "69.73", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000188778", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188778" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "52.78", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000188778", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188778" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000188778", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188778" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "71.38", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000188778", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188778" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "35.57", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000188778", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188778" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000188778", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188778" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "34.88", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000188778", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188778" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "49.33", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000188778", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188778" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "41.54", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000188778", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188778" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P13945", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13945" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P13945", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13945" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P13945", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13945" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P13945", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13945" } ], "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": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P13945", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13945" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P13945", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13945" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P13945", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13945" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P13945", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13945" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P13945", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13945" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P13945", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13945" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P13945", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13945" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "P13945", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13945" } ], "disease": [ { "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" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P13945", "url": "https://www.uniprot.org/uniprot/P13945" } ], "common_name": "Human" } ], "gene": [ { "name": "ADRB3", "url": "https://www.uniprot.org/uniprot/P13945", "locus": { "chromosome": "8", "start_pos": 37962990, "end_pos": 37966599, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000188778", "url": "https://www.ensembl.org/id/ENSG00000188778" } ] } } ], "crossref": [ { "id": "ENSG00000188778", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188778", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P13945", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P13945", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "CHEMBL246", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL246", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "ADRB3", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADRB3", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "155", "url": "https://www.ncbi.nlm.nih.gov/gene/155", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "288", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=288", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P13945", "url": "https://www.ebi.ac.uk/intact/interactors/id:P13945*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000276", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000276", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR000681", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000681", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR002233", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002233", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017452", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017452", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:155", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:155", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "109691", "url": "http://www.omim.org/entry/109691", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P13945", "url": "https://www.nextprot.org/entry/NX_P13945", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "WPHENSS", "url": "https://omabrowser.org/oma/group/WPHENSS/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2900736at2759", "url": "http://www.orthodb.org/?query=2900736at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR24248", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24248", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24248:SF3", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24248:SF3", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00001", "url": "http://pfam.xfam.org/family/PF00001", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P13945", "url": "https://pharos.nih.gov/targets/P13945", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P13945", "url": "http://purl.obolibrary.org/obo/PR_P13945", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-390696", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390696", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000016", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000016", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P13945", "url": "https://www.uniprot.org/uniprot/P13945", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P13945-1", "url": "https://www.uniprot.org/uniprot/P13945-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAPWPHENSSLAPWPDLPTLAPNTANTSGLPGVPWEAALAGALLALAVLATVGGNLLVIVAIAWTPRLQTMTNVFVTSLAAADLVMGLLVVPPAATLALTGHWPLGATGCELWTSVDVLCVTASIETLCALAVDRYLAVTNPLRYGALVTKRCARTAVVLVWVVSAAVSFAPIMSQWWRVGADAEAQRCHSNPRCCAFASNMPYVLLSSSVSFYLPLLVMLFVYARVFVVATRQLRLLRGELGRFPPEESPPAPSRSLAPAPVGTCAPPEGVPACGRRPARLLPLREHRALCTLGLIMGTFTLCWLPFFLANVLRALGGPSLVPGPAFLALNWLGYANSAFNPLIYCRSPDFRSAFRRLLCRCGRRLPPEPCAAARPALFPSGVPAARSSPAQPRLCQRLDGASWGVS", "length": 408, "header": "sp|P13945-1|ADRB3_HUMAN Isoform 1 of Beta-3 adrenergic receptor OS=Homo sapiens OX=9606 GN=ADRB3 PE=1 SV=3 CANONICAL=P13945-1" }, "isoforms": [ { "isoform_ac": "P13945-1", "url": "", "sequence": { "sequence": "MAPWPHENSSLAPWPDLPTLAPNTANTSGLPGVPWEAALAGALLALAVLATVGGNLLVIVAIAWTPRLQTMTNVFVTSLAAADLVMGLLVVPPAATLALTGHWPLGATGCELWTSVDVLCVTASIETLCALAVDRYLAVTNPLRYGALVTKRCARTAVVLVWVVSAAVSFAPIMSQWWRVGADAEAQRCHSNPRCCAFASNMPYVLLSSSVSFYLPLLVMLFVYARVFVVATRQLRLLRGELGRFPPEESPPAPSRSLAPAPVGTCAPPEGVPACGRRPARLLPLREHRALCTLGLIMGTFTLCWLPFFLANVLRALGGPSLVPGPAFLALNWLGYANSAFNPLIYCRSPDFRSAFRRLLCRCGRRLPPEPCAAARPALFPSGVPAARSSPAQPRLCQRLDGASWGVS", "length": 408, "header": "sp|P13945-1|ADRB3_HUMAN Isoform 1 of Beta-3 adrenergic receptor OS=Homo sapiens OX=9606 GN=ADRB3 PE=1 SV=3 CANONICAL=P13945-1" }, "locus": { "chromosome": "8", "start_pos": 37966469, "end_pos": 37964221, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000345060.5", "url": "https://www.ensembl.org/id/ENST00000345060.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000343782.3", "url": "https://www.ensembl.org/id/ENSP00000343782.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 26, "start_aa": "Asn", "end_pos": 26, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn26", "evidence": [ { "id": "P13945", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13945#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 8, "start_aa": "Asn", "end_pos": 8, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn8", "evidence": [ { "id": "P13945", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13945#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "alpha-2 and imidazoline receptor agonists. Their pharmacology and therapeutic role.", "journal": "Anaesthesia", "date": "1999", "authors": "Khan ZP, Ferguson CN, Jones RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-390696", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390696" } ], "reference": [ { "type": "PubMed", "id": "10215710", "url": "https://glygen.org/publication/PubMed/10215710" } ] }, { "title": "Alpha2-adrenergic agonist modulation of [35S]GTPgammaS binding to guanine-nucleotide-binding-proteins in human platelet membranes.", "journal": "Life sciences", "date": "1999", "authors": "Gessi S, Campi F, Varani K, Borea PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-390696", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390696" } ], "reference": [ { "type": "PubMed", "id": "10321720", "url": "https://glygen.org/publication/PubMed/10321720" } ] }, { "title": "Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis.", "journal": "Nat. Genet.", "date": "1999", "authors": "Halushka MK, Fan JB, Bentley K, Hsie L, Shen N, Weder A, Cooper R, Lipshutz R, Chakravarti A", "evidence": [ { "database": "UniProtKB", "id": "P13945", "url": "https://www.uniprot.org/uniprot/P13945" } ], "reference": [ { "type": "PubMed", "id": "10391210", "url": "https://glygen.org/publication/PubMed/10391210" } ] }, { "title": "Binding pockets of the beta(1)- and beta(2)-adrenergic receptors for subtype-selective agonists.", "journal": "Molecular pharmacology", "date": "1999", "authors": "Isogaya M, Sugimoto Y, Tanimura R, Tanaka R, Kikkawa H, Nagao T, Kurose H", "evidence": [ { "database": "Reactome", "id": "R-HSA-390696", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390696" } ], "reference": [ { "type": "PubMed", "id": "10531390", "url": "https://glygen.org/publication/PubMed/10531390" } ] }, { "title": "Src tyrosine kinase is a novel direct effector of G proteins.", "journal": "Cell", "date": "2000", "authors": "Ma YC, Huang J, Ali S, Lowry W, Huang XY", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "11007482", "url": "https://glygen.org/publication/PubMed/11007482" } ] }, { "title": "Selective inhibition of heterotrimeric Gs signaling. Targeting the receptor-G protein interface using a peptide minigene encoding the Galpha(s) carboxyl terminus.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Feldman DS, Zamah AM, Pierce KL, Miller WE, Kelly F, Rapacciuolo A, Rockman HA, Koch WJ, Luttrell LM", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "12036966", "url": "https://glygen.org/publication/PubMed/12036966" } ] }, { "title": "Mechanism of Galpha i-mediated inhibition of type V adenylyl cyclase.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Dessauer CW, Chen-Goodspeed M, Chen J", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "12058044", "url": "https://glygen.org/publication/PubMed/12058044" } ] }, { "title": "Similarities and differences in the coupling of human beta1- and beta2-adrenoceptors to Gs(alpha) splice variants.", "journal": "Biochemical pharmacology", "date": "2002", "authors": "Wenzel-Seifert K, Liu HY, Seifert R", "evidence": [ { "database": "Reactome", "id": "R-HSA-390696", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390696" } ], "reference": [ { "type": "PubMed", "id": "12106601", "url": "https://glygen.org/publication/PubMed/12106601" } ] }, { "title": "The pharmacology of cilostazol.", "journal": "Diabetes, obesity & metabolism", "date": "2002", "authors": "Schror K", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "12180353", "url": "https://glygen.org/publication/PubMed/12180353" } ] }, { "title": "Beta-agonists.", "journal": "The Medical clinics of North America", "date": "2002", "authors": "Dutta EJ, Li JT", "evidence": [ { "database": "Reactome", "id": "R-HSA-390696", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390696" } ], "reference": [ { "type": "PubMed", "id": "12428542", "url": "https://glygen.org/publication/PubMed/12428542" } ] }, { "title": "Characterization of the 5-HT6 receptor coupled to Ca2+ signaling using an enabling chimeric G-protein.", "journal": "European journal of pharmacology", "date": "2003", "authors": "Zhang JY, Nawoschik S, Kowal D, Smith D, Spangler T, Ochalski R, Schechter L, Dunlop J", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "12860470", "url": "https://glygen.org/publication/PubMed/12860470" } ] }, { "title": "Genomic organization and expression of the human alpha 1B-adrenergic receptor.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Ramarao CS, Denker JM, Perez DM, Gaivin RJ, Riek RP, Graham RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-390696", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390696" } ], "reference": [ { "type": "PubMed", "id": "1328250", "url": "https://glygen.org/publication/PubMed/1328250" } ] }, { "title": "Rodent and human beta 3-adrenergic receptor genes contain an intron within the protein-coding block.", "journal": "Mol. Pharmacol.", "date": "1992", "authors": "Granneman J G, Lahners K N, Rao D D", "evidence": [ { "database": "UniProtKB", "id": "P13945", "url": "https://www.uniprot.org/uniprot/P13945" } ], "reference": [ { "type": "PubMed", "id": "1336117", "url": "https://glygen.org/publication/PubMed/1336117" } ] }, { "title": "Fractionation and characterization of a cyclic adenine ribonucleotide formed by tissue particles.", "journal": "The Journal of biological chemistry", "date": "1958", "authors": "SUTHERLAND EW, RALL TW", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "13549488", "url": "https://glygen.org/publication/PubMed/13549488" } ] }, { "title": "Insights into G protein structure, function, and regulation.", "journal": "Endocrine reviews", "date": "2003", "authors": "Cabrera-Vera TM, Vanhauwe J, Thomas TO, Medkova M, Preininger A, Mazzoni MR, Hamm HE", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "14671004", "url": "https://glygen.org/publication/PubMed/14671004" } ] }, { "title": "Beta-arrestin2, a novel member of the arrestin/beta-arrestin gene family.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Attramadal H, Arriza JL, Aoki C, Dawson TM, Codina J, Kwatra MM, Snyder SH, Caron MG, Lefkowitz RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "1517224", "url": "https://glygen.org/publication/PubMed/1517224" } ] }, { "title": "The selectivity of beta-adrenoceptor antagonists at the human beta1, beta2 and beta3 adrenoceptors.", "journal": "British journal of pharmacology", "date": "2005", "authors": "Baker JG", "evidence": [ { "database": "Reactome", "id": "R-HSA-390696", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390696" } ], "reference": [ { "type": "PubMed", "id": "15655528", "url": "https://glygen.org/publication/PubMed/15655528" } ] }, { "title": "An association between the Trp64Arg polymorphism in the beta3-adrenergic receptor gene and endometrial cancer and obesity.", "journal": "Journal of experimental & clinical cancer research : CR", "date": "2004", "authors": "Babol K, Przybylowska K, Lukaszek M, Pertynski T, Blasiak J", "evidence": [ { "database": "Entrez", "id": "155", "url": "https://www.ncbi.nlm.nih.gov/gene/155" } ], "reference": [ { "type": "PubMed", "id": "15743038", "url": "https://glygen.org/publication/PubMed/15743038" } ] }, { "title": "Effects of piclamilast, a selective phosphodiesterase-4 inhibitor, on oxidative burst of sputum cells from mild asthmatics and stable COPD patients.", "journal": "Lung", "date": "2004", "authors": "Beeh KM, Beier J, Lerch C, Schulz AK, Buhl R", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "15765929", "url": "https://glygen.org/publication/PubMed/15765929" } ] }, { "title": "Cyclic nucleotide phosphodiesterase-mediated integration of cGMP and cAMP signaling in cells of the cardiovascular system.", "journal": "Frontiers in bioscience : a journal and virtual library", "date": "2005", "authors": "Maurice DH", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "15769620", "url": "https://glygen.org/publication/PubMed/15769620" } ] }, { "title": "The GAPs, GEFs, and GDIs of heterotrimeric G-protein alpha subunits.", "journal": "International journal of biological sciences", "date": "2005", "authors": "Siderovski DP, Willard FS", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "15951850", "url": "https://glygen.org/publication/PubMed/15951850" } ] }, { "title": "Preferential inhibition of human phosphodiesterase 4 by ibudilast.", "journal": "Life sciences", "date": "2006", "authors": "Huang Z, Liu S, Zhang L, Salem M, Greig GM, Chan CC, Natsumeda Y, Noguchi K", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "16313925", "url": "https://glygen.org/publication/PubMed/16313925" } ] }, { "title": "beta3-adrenoceptors in the cardiovascular system: putative roles in human pathologies.", "journal": "Pharmacology & therapeutics", "date": "2006", "authors": "Rozec B, Gauthier C", "evidence": [ { "database": "Reactome", "id": "R-HSA-390696", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390696" } ], "reference": [ { "type": "PubMed", "id": "16480771", "url": "https://glygen.org/publication/PubMed/16480771" } ] }, { "title": "G-protein-coupled receptor kinase specificity for beta-arrestin recruitment to the beta2-adrenergic receptor revealed by fluorescence resonance energy transfer.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Violin JD, Ren XR, Lefkowitz RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "16687412", "url": "https://glygen.org/publication/PubMed/16687412" } ] }, { "title": "Structural basis of function in heterotrimeric G proteins.", "journal": "Quarterly reviews of biophysics", "date": "2006", "authors": "Oldham WM, Hamm HE", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "16923326", "url": "https://glygen.org/publication/PubMed/16923326" } ] }, { "title": "Structure-function of alpha1-adrenergic receptors.", "journal": "Biochemical pharmacology", "date": "2007", "authors": "Perez DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-390696", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390696" } ], "reference": [ { "type": "PubMed", "id": "17052695", "url": "https://glygen.org/publication/PubMed/17052695" } ] }, { "title": "Phosphodiesterase 4 inhibitors for the treatment of asthma and COPD.", "journal": "Current medicinal chemistry", "date": "2006", "authors": "Huang Z, Mancini JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "17168849", "url": "https://glygen.org/publication/PubMed/17168849" } ] }, { "title": "The ADRB3 Trp64Arg variant and obesity in African-American breast cancer cases.", "journal": "International journal of obesity (2005)", "date": "2007", "authors": "McKean-Cowdin R, Li X, Bernstein L, McTiernan A, Ballard-Barbash R, Gauderman WJ, Gilliland F", "evidence": [ { "database": "Entrez", "id": "155", "url": "https://www.ncbi.nlm.nih.gov/gene/155" } ], "reference": [ { "type": "PubMed", "id": "17264845", "url": "https://glygen.org/publication/PubMed/17264845" } ] }, { "title": "PDE4 inhibitors as potential therapeutic agents in the treatment of COPD-focus on roflumilast.", "journal": "International journal of chronic obstructive pulmonary disease", "date": "2007", "authors": "Boswell-Smith V, Spina D", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "18044684", "url": "https://glygen.org/publication/PubMed/18044684" } ] }, { "title": "Dissociation of heterotrimeric g proteins in cells.", "journal": "Science signaling", "date": "2008", "authors": "Lambert NA", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "18577758", "url": "https://glygen.org/publication/PubMed/18577758" } ] }, { "title": "The efficacy and safety of cilomilast in COPD.", "journal": "Drugs", "date": "2008", "authors": "Rennard S, Knobil K, Rabe KF, Morris A, Schachter N, Locantore N, Canonica WG, Zhu Y, Barnhart F", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "19105585", "url": "https://glygen.org/publication/PubMed/19105585" } ] }, { "title": "Alpha-adrenergic blockers: mechanism of action, blood pressure control, and effects of lipoprotein metabolism.", "journal": "Clinical cardiology", "date": "1990", "authors": "Nash DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-390696", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390696" } ], "reference": [ { "type": "PubMed", "id": "1980236", "url": "https://glygen.org/publication/PubMed/1980236" } ] }, { "title": "AN-2728, a PDE4 inhibitor for the potential topical treatment of psoriasis and atopic dermatitis.", "journal": "Current opinion in investigational drugs (London, England : 2000)", "date": "2009", "authors": "Nazarian R, Weinberg JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "19876791", "url": "https://glygen.org/publication/PubMed/19876791" } ] }, { "title": "Ibudilast: a review of its pharmacology, efficacy and safety in respiratory and neurological disease.", "journal": "Expert opinion on pharmacotherapy", "date": "2009", "authors": "Rolan P, Hutchinson M, Johnson K", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "19929708", "url": "https://glygen.org/publication/PubMed/19929708" } ] }, { "title": "The preclinical pharmacology of roflumilast--a selective, oral phosphodiesterase 4 inhibitor in development for chronic obstructive pulmonary disease.", "journal": "Pulmonary pharmacology & therapeutics", "date": "2010", "authors": "Hatzelmann A, Morcillo EJ, Lungarella G, Adnot S, Sanjar S, Beume R, Schudt C, Tenor H", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "20381629", "url": "https://glygen.org/publication/PubMed/20381629" } ] }, { "title": "Prevalence of major comorbidities in subjects with COPD and incidence of myocardial infarction and stroke: a comprehensive analysis using data from primary care.", "journal": "Thorax", "date": "2010", "authors": "Feary JR, Rodrigues LC, Smith CJ, Hubbard RB, Gibson JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-390696", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390696" } ], "reference": [ { "type": "PubMed", "id": "20871122", "url": "https://glygen.org/publication/PubMed/20871122" } ] }, { "title": "Ibudilast, a mixed PDE3/4 inhibitor, causes a selective and nitric oxide/cGMP-independent relaxation of the intracranial vertebrobasilar artery.", "journal": "European journal of pharmacology", "date": "2011", "authors": "Yamazaki T, Anraku T, Matsuzawa S", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "21036126", "url": "https://glygen.org/publication/PubMed/21036126" } ] }, { "title": "Alpha-1-adrenergic receptors: targets for agonist drugs to treat heart failure.", "journal": "Journal of molecular and cellular cardiology", "date": "2011", "authors": "Jensen BC, O'Connell TD, Simpson PC", "evidence": [ { "database": "Reactome", "id": "R-HSA-390696", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390696" } ], "reference": [ { "type": "PubMed", "id": "21118696", "url": "https://glygen.org/publication/PubMed/21118696" } ] }, { "title": "beta-Arrestin: a protein that regulates beta-adrenergic receptor function.", "journal": "Science (New York, N.Y.)", "date": "1990", "authors": "Lohse MJ, Benovic JL, Codina J, Caron MG, Lefkowitz RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "2163110", "url": "https://glygen.org/publication/PubMed/2163110" } ] }, { "title": "Cloning, expression, and pharmacological characterization of a human alpha 2B-adrenergic receptor.", "journal": "Molecular pharmacology", "date": "1990", "authors": "Weinshank RL, Zgombick JM, Macchi M, Adham N, Lichtblau H, Branchek TA, Hartig PR", "evidence": [ { "database": "Reactome", "id": "R-HSA-390696", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390696" } ], "reference": [ { "type": "PubMed", "id": "2172775", "url": "https://glygen.org/publication/PubMed/2172775" } ] }, { "title": "The arrestin domain-containing 3 protein regulates body mass and energy expenditure.", "journal": "Cell Metab.", "date": "2011", "authors": "Patwari P, Emilsson V, Schadt EE, Chutkow WA, Lee S, Marsili A, Zhang Y, Dobrin R, Cohen DE, Larsen PR, Zavacki AM, Fong LG, Young SG, Lee RT", "evidence": [ { "database": "UniProtKB", "id": "P13945", "url": "https://www.uniprot.org/uniprot/P13945" } ], "reference": [ { "type": "PubMed", "id": "21982743", "url": "https://glygen.org/publication/PubMed/21982743" } ] }, { "title": "beta(3) Receptors: Role in Cardiometabolic Disorders.", "journal": "Therapeutic advances in endocrinology and metabolism", "date": "2011", "authors": "Bhadada SV, Patel BM, Mehta AA, Goyal RK", "evidence": [ { "database": "Reactome", "id": "R-HSA-390696", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390696" } ], "reference": [ { "type": "PubMed", "id": "23148172", "url": "https://glygen.org/publication/PubMed/23148172" } ] }, { "title": "Pharmacology of the bipyridines: amrinone and milrinone.", "journal": "Circulation", "date": "1986", "authors": "Alousi AA, Johnson DC", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "2417744", "url": "https://glygen.org/publication/PubMed/2417744" } ] }, { "title": "Association of adrenergic receptor gene polymorphisms in gallbladder cancer susceptibility in a North Indian population.", "journal": "Journal of cancer research and clinical oncology", "date": "2014", "authors": "Rai R, Sharma KL, Misra S, Kumar A, Mittal B", "evidence": [ { "database": "Entrez", "id": "155", "url": "https://www.ncbi.nlm.nih.gov/gene/155" } ], "reference": [ { "type": "PubMed", "id": "24556804", "url": "https://glygen.org/publication/PubMed/24556804" } ] }, { "title": "Advances in targeting cyclic nucleotide phosphodiesterases.", "journal": "Nature reviews. Drug discovery", "date": "2014", "authors": "Maurice DH, Ke H, Ahmad F, Wang Y, Chung J, Manganiello VC", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "24687066", "url": "https://glygen.org/publication/PubMed/24687066" } ] }, { "title": "The odd sibling: features of beta3-adrenoceptor pharmacology.", "journal": "Molecular pharmacology", "date": "2014", "authors": "Cernecka H, Sand C, Michel MC", "evidence": [ { "database": "Reactome", "id": "R-HSA-390696", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390696" } ], "reference": [ { "type": "PubMed", "id": "24890609", "url": "https://glygen.org/publication/PubMed/24890609" } ] }, { "title": "Expression of Gs alpha in Escherichia coli. Purification and properties of two forms of the protein.", "journal": "The Journal of biological chemistry", "date": "1989", "authors": "Graziano MP, Freissmuth M, Gilman AG", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "2491850", "url": "https://glygen.org/publication/PubMed/2491850" } ] }, { "title": "Pharmacology of positive inotropic phosphodiesterase III inhibitors.", "journal": "European heart journal", "date": "1989", "authors": "Honerjager P", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "2553411", "url": "https://glygen.org/publication/PubMed/2553411" } ] }, { "title": "Multiple signaling pathways of histamine H2 receptors. Identification of an H2 receptor-dependent Ca2+ mobilization pathway in human HL-60 promyelocytic leukemia cells.", "journal": "The Journal of biological chemistry", "date": "1989", "authors": "Mitsuhashi M, Mitsuhashi T, Payan DG", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "2553705", "url": "https://glygen.org/publication/PubMed/2553705" } ] }, { "title": "Molecular characterization of the human beta 3-adrenergic receptor.", "journal": "Science", "date": "1989", "authors": "Emorine LJ, Marullo S, Briend-Sutren MM, Patey G, Tate K, Delavier-Klutchko C, Strosberg AD", "evidence": [ { "database": "UniProtKB", "id": "P13945", "url": "https://www.uniprot.org/uniprot/P13945" }, { "database": "Reactome", "id": "R-HSA-390696", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390696" } ], "reference": [ { "type": "PubMed", "id": "2570461", "url": "https://glygen.org/publication/PubMed/2570461" } ] }, { "title": "Pentoxifylline for intermittent claudication.", "journal": "The Cochrane database of systematic reviews", "date": "2015", "authors": "Salhiyyah K, Forster R, Senanayake E, Abdel-Hadi M, Booth A, Michaels JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "26417854", "url": "https://glygen.org/publication/PubMed/26417854" } ] }, { "title": "Pharmacological Characterization of a Novel Beta 3 Adrenergic Agonist, Vibegron: Evaluation of Antimuscarinic Receptor Selectivity for Combination Therapy for Overactive Bladder.", "journal": "The Journal of pharmacology and experimental therapeutics", "date": "2017", "authors": "Di Salvo J, Nagabukuro H, Wickham LA, Abbadie C, DeMartino JA, Fitzmaurice A, Gichuru L, Kulick A, Donnelly MJ, Jochnowitz N, Hurley AL, Pereira A, Sanfiz A, Veronin G, Villa K, Woods J, Zamlynny B, Zycband E, Salituro GM, Frenkl T, Weber AE, Edmondson SD, Struthers M", "evidence": [ { "database": "Reactome", "id": "R-HSA-390696", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390696" } ], "reference": [ { "type": "PubMed", "id": "27965369", "url": "https://glygen.org/publication/PubMed/27965369" } ] }, { "title": "Cloning, sequencing, and expression of the gene coding for the human platelet alpha 2-adrenergic receptor.", "journal": "Science (New York, N.Y.)", "date": "1987", "authors": "Kobilka BK, Matsui H, Kobilka TS, Yang-Feng TL, Francke U, Caron MG, Lefkowitz RJ, Regan JW", "evidence": [ { "database": "Reactome", "id": "R-HSA-390696", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390696" } ], "reference": [ { "type": "PubMed", "id": "2823383", "url": "https://glygen.org/publication/PubMed/2823383" } ] }, { "title": "Cloning of the cDNA for the human beta 1-adrenergic receptor.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1987", "authors": "Frielle T, Collins S, Daniel KW, Caron MG, Lefkowitz RJ, Kobilka BK", "evidence": [ { "database": "Reactome", "id": "R-HSA-390696", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390696" } ], "reference": [ { "type": "PubMed", "id": "2825170", "url": "https://glygen.org/publication/PubMed/2825170" } ] }, { "title": "Novel selective beta1-adrenoceptor antagonists for concomitant cardiovascular and respiratory disease.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2017", "authors": "Baker JG, Gardiner SM, Woolard J, Fromont C, Jadhav GP, Mistry SN, Thompson KSJ, Kellam B, Hill SJ, Fischer PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-390696", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390696" } ], "reference": [ { "type": "PubMed", "id": "28400472", "url": "https://glygen.org/publication/PubMed/28400472" } ] }, { "title": "Beta-adrenergic receptor kinase: identification of a novel protein kinase that phosphorylates the agonist-occupied form of the receptor.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1986", "authors": "Benovic JL, Strasser RH, Caron MG, Lefkowitz RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "2871555", "url": "https://glygen.org/publication/PubMed/2871555" } ] }, { "title": "Effect and safety of roflumilast for chronic obstructive pulmonary disease in Chinese patients.", "journal": "Medicine", "date": "2018", "authors": "Liu DY, Wang ZG, Gao Y, Zhang HM, Zhang YX, Wang XJ, Peng D", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "29443750", "url": "https://glygen.org/publication/PubMed/29443750" } ] }, { "title": "Use of cilomilast-loaded phosphatiosomes to suppress neutrophilic inflammation for attenuating acute lung injury: the effect of nanovesicular surface charge.", "journal": "Journal of nanobiotechnology", "date": "2018", "authors": "Liu FC, Yu HP, Lin CY, Elzoghby AO, Hwang TL, Fang JY", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "29602314", "url": "https://glygen.org/publication/PubMed/29602314" } ] }, { "title": "cDNA for the human beta 2-adrenergic receptor: a protein with multiple membrane-spanning domains and encoded by a gene whose chromosomal location is shared with that of the receptor for platelet-derived growth factor.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1987", "authors": "Kobilka BK, Dixon RA, Frielle T, Dohlman HG, Bolanowski MA, Sigal IS, Yang-Feng TL, Francke U, Caron MG, Lefkowitz RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-390696", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390696" } ], "reference": [ { "type": "PubMed", "id": "3025863", "url": "https://glygen.org/publication/PubMed/3025863" } ] }, { "title": "IL-12/IL-23p40 identified as a downstream target of apremilast in ex vivo models of arthritis.", "journal": "Therapeutic advances in musculoskeletal disease", "date": "2019", "authors": "Kragstrup TW, Adams M, Lomholt S, Nielsen MA, Heftdal LD, Schafer P, Deleuran B", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "30833991", "url": "https://glygen.org/publication/PubMed/30833991" } ] }, { "title": "Isolation and characterization of the human Gs alpha gene.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1988", "authors": "Kozasa T, Itoh H, Tsukamoto T, Kaziro Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "3127824", "url": "https://glygen.org/publication/PubMed/3127824" } ] }, { "title": "Crisaborole 2% ointment for the treatment of intertriginous, anogenital, and facial psoriasis: A double-blind, randomized, vehicle-controlled trial.", "journal": "Journal of the American Academy of Dermatology", "date": "2020", "authors": "Hashim PW, Chima M, Kim HJ, Bares J, Yao CJ, Singer G, Chen T, Genece J, Baum D, Kimmel GW, Nia JK, Gagliotti M, Lebwohl MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "31279028", "url": "https://glygen.org/publication/PubMed/31279028" } ] }, { "title": "Effect of the inhaled PDE4 inhibitor CHF6001 on biomarkers of inflammation in COPD.", "journal": "Respiratory research", "date": "2019", "authors": "Singh D, Beeh KM, Colgan B, Kornmann O, Leaker B, Watz H, Lucci G, Geraci S, Emirova A, Govoni M, Nandeuil MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "31399091", "url": "https://glygen.org/publication/PubMed/31399091" } ] }, { "title": "Simple assessment of quality of life and lower limb functional capacity during cilostazol treatment - results of the SHort-tERm cIlostazol eFFicacy and quality of life (SHERIFF) study.", "journal": "VASA. Zeitschrift fur Gefasskrankheiten", "date": "2020", "authors": "Farkas K, Kolossvary E, Jarai Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "31983287", "url": "https://glygen.org/publication/PubMed/31983287" } ] }, { "title": "Inhaled Phosphodiesterase 4 (PDE4) Inhibitors for Inflammatory Respiratory Diseases.", "journal": "Frontiers in pharmacology", "date": "2020", "authors": "Phillips JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "32226383", "url": "https://glygen.org/publication/PubMed/32226383" } ] }, { "title": "Commentary: Phosphodiesterase 4 inhibitors as potential adjunct treatment targeting the cytokine storm in COVID-19.", "journal": "Metabolism: clinical and experimental", "date": "2020", "authors": "Dalamaga M, Karampela I, Mantzoros CS", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "32497535", "url": "https://glygen.org/publication/PubMed/32497535" } ] }, { "title": "Repositioning of pentoxifylline as an immunomodulator and regulator of the renin-angiotensin system in the treatment of COVID-19.", "journal": "Medical hypotheses", "date": "2020", "authors": "Maldonado V, Loza-Mejia MA, Chavez-Alderete J", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "32540603", "url": "https://glygen.org/publication/PubMed/32540603" } ] }, { "title": "COVID-19 patients with psoriasis and psoriatic arthritis on biologic immunosuppressant therapy vs apremilast in North Spain.", "journal": "Dermatologic therapy", "date": "2020", "authors": "Queiro Silva R, Armesto S, Gonzalez Vela C, Naharro Fernandez C, Gonzalez-Gay MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "32618402", "url": "https://glygen.org/publication/PubMed/32618402" } ] }, { "title": "Hypothesis: Pentoxifylline is a potential cytokine modulator therapeutic in COVID-19 patients.", "journal": "Pharmacology research & perspectives", "date": "2020", "authors": "Hendry BM, Stafford N, Arnold AD, Sangwaiya A, Manglam V, Rosen SD, Arnold J", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "32715661", "url": "https://glygen.org/publication/PubMed/32715661" } ] }, { "title": "Pentoxifylline: A Drug with Antiviral and Anti-Inflammatory Effects to Be Considered in the Treatment of Coronavirus Disease 2019.", "journal": "Medical principles and practice : international journal of the Kuwait University, Health Science Centre", "date": "2021", "authors": "Ghasemnejad-Berenji M, Pashapour S, Sadeghpour S", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "33049737", "url": "https://glygen.org/publication/PubMed/33049737" } ] }, { "title": "The \u03b23 adrenoceptor in proliferative retinopathies: `Cinderella` steps out of its family shadow.", "journal": "Pharmacological research", "date": "2023-04", "authors": "Cammalleri Maurizio, Amato Rosario, Dal Monte Massimo, Filippi Luca, Bagnoli Paola", "evidence": [ { "database": "RefSeq", "id": "NP_000016", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000016" } ], "reference": [ { "type": "PubMed", "id": "36863427", "url": "https://glygen.org/publication/PubMed/36863427" } ] }, { "title": "\u03b23AR-Dependent Brain-Derived Neurotrophic Factor (BDNF) Generation Limits Chronic Postischemic Heart Failure.", "journal": "Circulation research", "date": "2023-03-31", "authors": "Cannavo Alessandro, Jun Seungho, Rengo Giuseppe, Marzano Federica, Agrimi Jacopo, Liccardo Daniela, Elia Andrea, Keceli Gizem, Altobelli Giovanna G, Marcucci Lorenzo, Megighian Aram, Gao Erhe, Feng Ning, Kammers Kai, Ferrara Nicola, Finos Livio, Koch Walter J, Paolocci Nazareno", "evidence": [ { "database": "RefSeq", "id": "NP_000016", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000016" } ], "reference": [ { "type": "PubMed", "id": "36884028", "url": "https://glygen.org/publication/PubMed/36884028" } ] }, { "title": "Association of an ADRB3 Variant with Coronary Artery Disease Within the Chinese Han Population: Construction of a Predictive Nomogram Model.", "journal": "Genetic testing and molecular biomarkers", "date": "2023-03", "authors": "Zhang Jin-Yu, Zhao Qian, Li Xiao-Mei, Liu Fen, Zhao Qiang, Men Li, Chen Qing-Jie, Zhai Hui, Yang Yi-Ning", "evidence": [ { "database": "RefSeq", "id": "NP_000016", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000016" } ], "reference": [ { "type": "PubMed", "id": "36989522", "url": "https://glygen.org/publication/PubMed/36989522" } ] }, { "title": "Effects of the Trp64Arg Polymorphism in the ADRB3 Gene on Body Composition, Cardiorespiratory Fitness, and Physical Activity in Healthy Adults.", "journal": "Genes", "date": "2023-07-27", "authors": "Potocka Natalia, Skrzypa Marzena, Zadarko-Domaradzka Maria, Barabasz Zbigniew, Penar-Zadarko Beata, Sakowicz Agata, Zadarko Emilian, Zawlik Izabela", "evidence": [ { "database": "RefSeq", "id": "NP_000016", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000016" } ], "reference": [ { "type": "PubMed", "id": "37628593", "url": "https://glygen.org/publication/PubMed/37628593" } ] }, { "title": "Urinary beta 3-adrenoceptor as a diagnostic biomarker for overactive bladder in women.", "journal": "Scientific reports", "date": "2023-11-08", "authors": "Liang Ching-Chung, Hsieh Wu-Chiao, Lo Tsia-Shu, Huang Ting-Xuan, Chou Yi-Chun, Huang Jing-Yi, Huang Yung-Hsin", "evidence": [ { "database": "RefSeq", "id": "NP_000016", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000016" } ], "reference": [ { "type": "PubMed", "id": "37938600", "url": "https://glygen.org/publication/PubMed/37938600" } ] }, { "title": "The new inotropic phosphodiesterase inhibitors.", "journal": "Archives internationales de physiologie et de biochimie", "date": "1984", "authors": "el Allaf D, D'Orio V, Carlier J", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "6085243", "url": "https://glygen.org/publication/PubMed/6085243" } ] }, { "title": "Genetic variation in the beta 3-adrenergic receptor and an increased capacity to gain weight in patients with morbid obesity.", "journal": "N. Engl. J. Med.", "date": "1995", "authors": "Clement K, Vaisse C, Manning BS, Basdevant A, Guy-Grand B, Ruiz J, Silver KD, Shuldiner AR, Froguel P, Strosberg AD", "evidence": [ { "database": "UniProtKB", "id": "P13945", "url": "https://www.uniprot.org/uniprot/P13945" } ], "reference": [ { "type": "PubMed", "id": "7609752", "url": "https://glygen.org/publication/PubMed/7609752" } ] }, { "title": "Cloning of the human alpha 1d-adrenergic receptor and inducible expression of three human subtypes in SK-N-MC cells.", "journal": "Molecular pharmacology", "date": "1995", "authors": "Esbenshade TA, Hirasawa A, Tsujimoto G, Tanaka T, Yano J, Minneman KP, Murphy TJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-390696", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390696" } ], "reference": [ { "type": "PubMed", "id": "7746284", "url": "https://glygen.org/publication/PubMed/7746284" } ] }, { "title": "Polypeptide variants of beta-arrestin and arrestin3.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Sterne-Marr R, Gurevich VV, Goldsmith P, Bodine RC, Sanders C, Donoso LA, Benovic JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "8340388", "url": "https://glygen.org/publication/PubMed/8340388" } ] }, { "title": "The promoter and intron/exon structure of the human and mouse beta 3-adrenergic-receptor genes.", "journal": "Eur. J. Biochem.", "date": "1993", "authors": "van Spronsen A, Nahmias C, Krief S, Briend-Sutren M M, Strosberg A D, Emorine L J", "evidence": [ { "database": "UniProtKB", "id": "P13945", "url": "https://www.uniprot.org/uniprot/P13945" } ], "reference": [ { "type": "PubMed", "id": "8389293", "url": "https://glygen.org/publication/PubMed/8389293" } ] }, { "title": "Molecular cloning of a human beta 3-adrenergic receptor cDNA.", "journal": "FEBS Lett.", "date": "1993", "authors": "Lelias J M, Kaghad M, Rodriguez M, Chalon P, Bonnin J, Dupre I, Delpech B, Bensaid M, LeFur G, Ferrara P", "evidence": [ { "database": "UniProtKB", "id": "P13945", "url": "https://www.uniprot.org/uniprot/P13945" } ], "reference": [ { "type": "PubMed", "id": "8389717", "url": "https://glygen.org/publication/PubMed/8389717" } ] }, { "title": "Cloning, functional expression and tissue distribution of human cDNA for the alpha 1C-adrenergic receptor.", "journal": "Biochemical and biophysical research communications", "date": "1993", "authors": "Hirasawa A, Horie K, Tanaka T, Takagaki K, Murai M, Yano J, Tsujimoto G", "evidence": [ { "database": "Reactome", "id": "R-HSA-390696", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390696" } ], "reference": [ { "type": "PubMed", "id": "8396931", "url": "https://glygen.org/publication/PubMed/8396931" } ] }, { "title": "Phosphorylation and desensitization of human m2 muscarinic cholinergic receptors by two isoforms of the beta-adrenergic receptor kinase.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Richardson RM, Kim C, Benovic JL, Hosey MM", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "8514797", "url": "https://glygen.org/publication/PubMed/8514797" } ] }, { "title": "Selectivity of the imidazoline alpha-adrenoceptor agonists (oxymetazoline and cirazoline) for human cloned alpha 1-adrenoceptor subtypes.", "journal": "British journal of pharmacology", "date": "1995", "authors": "Horie K, Obika K, Foglar R, Tsujimoto G", "evidence": [ { "database": "Reactome", "id": "R-HSA-390696", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390696" } ], "reference": [ { "type": "PubMed", "id": "8564227", "url": "https://glygen.org/publication/PubMed/8564227" } ] }, { "title": "Pharmacological characterization of a recently described human beta 3-adrenergic receptor mutant.", "journal": "Endocrinology", "date": "1996", "authors": "Candelore M R, Deng L, Tota L M, Kelly L J, Cascieri M A, Strader C D", "evidence": [ { "database": "UniProtKB", "id": "P13945", "url": "https://www.uniprot.org/uniprot/P13945" } ], "reference": [ { "type": "PubMed", "id": "8641219", "url": "https://glygen.org/publication/PubMed/8641219" } ] }, { "title": "Members of the G protein-coupled receptor kinase family that phosphorylate the beta2-adrenergic receptor facilitate sequestration.", "journal": "Biochemistry", "date": "1996", "authors": "Menard L, Ferguson SS, Barak LS, Bertrand L, Premont RT, Colapietro AM, Lefkowitz RJ, Caron MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "8672451", "url": "https://glygen.org/publication/PubMed/8672451" } ] }, { "title": "Association of Trp64Arg mutation of the beta3-adrenergic-receptor with NIDDM and body weight gain.", "journal": "Diabetologia", "date": "1996", "authors": "Fujisawa T, Ikegami H, Yamato E, Takekawa K, Nakagawa Y, Hamada Y, Oga T, Ueda H, Shintani M, Fukuda M, Ogihara T", "evidence": [ { "database": "UniProtKB", "id": "P13945", "url": "https://www.uniprot.org/uniprot/P13945" } ], "reference": [ { "type": "PubMed", "id": "8721782", "url": "https://glygen.org/publication/PubMed/8721782" } ] }, { "title": "Anagrelide as a new platelet-lowering agent in essential thrombocythemia: mechanism of actin, efficacy, toxicity, current indications.", "journal": "Seminars in thrombosis and hemostasis", "date": "1997", "authors": "Tefferi A, Silverstein MN, Petitt RM, Mesa RA, Solberg LA Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "9263355", "url": "https://glygen.org/publication/PubMed/9263355" } ] }, { "title": "Crystal structure of the catalytic domains of adenylyl cyclase in a complex with Gsalpha.GTPgammaS.", "journal": "Science (New York, N.Y.)", "date": "1997", "authors": "Tesmer JJ, Sunahara RK, Gilman AG, Sprang SR", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "9417641", "url": "https://glygen.org/publication/PubMed/9417641" } ] }, { "title": "Ligand efficacy and potency at recombinant alpha2 adrenergic receptors: agonist-mediated [35S]GTPgammaS binding.", "journal": "Biochemical pharmacology", "date": "1998", "authors": "Jasper JR, Lesnick JD, Chang LK, Yamanishi SS, Chang TK, Hsu SA, Daunt DA, Bonhaus DW, Eglen RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-390696", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390696" } ], "reference": [ { "type": "PubMed", "id": "9605427", "url": "https://glygen.org/publication/PubMed/9605427" } ] }, { "title": "Stimulation of type 1 and type 8 Ca2+/calmodulin-sensitive adenylyl cyclases by the Gs-coupled 5-hydroxytryptamine subtype 5-HT7A receptor.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Baker LP, Nielsen MD, Impey S, Metcalf MA, Poser SW, Chan G, Obrietan K, Hamblin MW, Storm DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "9651336", "url": "https://glygen.org/publication/PubMed/9651336" } ] } ], "pathway": [ { "id": "hsa:155", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:155", "resource": "KEGG Pathway" }, { "id": "R-HSA-390696", "name": "Adrenoceptors", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390696", "resource": "Reactome", "description": "Adrenoceptors" }, { "id": "R-HSA-418555", "name": "G alpha (s) signalling events", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555", "resource": "Reactome", "description": "G alpha (s) signalling events" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A2C9F3F6-1", "protein_name": "Beta-3 adrenergic receptor", "gene_name": "ADRB3", "tax_id": 9823, "organism": "Sus scrofa", "sequence": { "sequence": "MAPWPQGNSSLPPRPDVSTLAPNTANTSGLPGVPWAVALAGALLAPAVLATVGGNLLVIVAIARTPRLQTMTNVFVTSLATADLVVGLLVVPPGTTLALTGHWPLGATCCELWTSVDVLCVTASIETLCALAVDRYLAVTNPLRYGALVTKRRARAAVVLVWVVSAAVSFAPIMSKWWRVGADAEAQRCHSNPSCCTFASNMPYALLSSSVSFYLPLLVMLFVYARVFVVATSQLRLLRWELSRFPPEESPPAPSRSQSPAPGRPWPSPAGVPSHGRRPARLLPLREHRALCTLGLIMGTFTLCWLPFFVVNVVRALGGPSLVPVPAFLALNWLGYANSAFNPLIYCHSPDFRSAFRRLLCRCGPEEHLAAASPPRAPSGAPETLTHPAESRQSPPLNEASWGLFRP", "length": 407 }, "evidence": [ { "id": "P13945", "url": "https://omabrowser.org/oma/group/P13945/", "database": "OMA" } ], "common_name": "Pig" }, { "uniprot_canonical_ac": "P25962-1", "protein_name": "Beta-3 adrenergic receptor", "gene_name": "Adrb3", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAPWPHRNGSLALWSDAPTLDPSAANTSGLPGVPWAAALAGALLALATVGGNLLVIIAIARTPRLQTITNVFVTSLAAADLVVGLLVMPPGATLALTGHWPLGETGCELWTSVDVLCVTASIETLCALAVDRYLAVTNPLRYGTLVTKRRARAAVVLVWIVSAAVSFAPIMSQWWRVGADAEAQECHSNPRCCSFASNMPYALLSSSVSFYLPLLVMLFVYARVFVVAKRQRHLLRRELGRFSPEESPPSPSRSPSPATGGTPAAPDGVPPCGRRPARLLPLREHRALRTLGLIMGIFSLCWLPFFLANVLRALAGPSLVPSGVFIALNWLGYANSAFNPVIYCRSPDFRDAFRRLLCSYGGRGPEEPRAVTFPASPVEARQSPPLNRFDGYEGARPFPT", "length": 400 }, "evidence": [ { "id": "45922847", "url": "http://www.informatics.jax.org/homology/45922847", "database": "MGI" }, { "id": "P13945", "url": "https://omabrowser.org/oma/group/P13945/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "P26255-1", "protein_name": "Beta-3 adrenergic receptor", "gene_name": "Adrb3", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAPWPHKNGSLAFWSDAPTLDPSAANTSGLPGVPWAAALAGALLALATVGGNLLVITAIARTPRLQTITNVFVTSLATADLVVGLLVMPPGATLALTGHWPLGATGCELWTSVDVLCVTASIETLCALAVDRYLAVTNPLRYGTLVTKRRARAAVVLVWIVSATVSFAPIMSQWWRVGADAEAQECHSNPRCCSFASNMPYALLSSSVSFYLPLLVMLFVYARVFVVAKRQRRLLRRELGRFPPEESPRSPSRSPSPATVGTPTASDGVPSCGRRPARLLPLGEHRALRTLGLIMGIFSLCWLPFFLANVLRALVGPSLVPSGVFIALNWLGYANSAFNPLIYCRSPDFRDAFRRLLCSYGGRGPEEPRVVTFPASPVASRQNSPLNRFDGYEGERPFPT", "length": 400 }, "evidence": [ { "id": "45922847", "url": "http://www.informatics.jax.org/homology/45922847", "database": "MGI" }, { "id": "P13945", "url": "https://omabrowser.org/oma/group/P13945/", "database": "OMA" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P13945", "url": "https://www.uniprot.org/uniprot/P13945" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "P13945", "url": "https://www.uniprot.org/uniprot/P13945" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 16, "go_terms": [ { "name": "generation of precursor metabolites and energy", "id": "GO:0006091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006091", "evidence": [ { "database": "UniProtKB", "id": "P13945", "url": "https://www.uniprot.org/uniprot/P13945" } ], "pmid": "" }, { "name": "activation of adenylate cyclase activity", "id": "GO:0007190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007190", "evidence": [ { "database": "UniProtKB", "id": "P13945", "url": "https://www.uniprot.org/uniprot/P13945" } ], "pmid": "" }, { "name": "response to cold", "id": "GO:0009409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009409", "evidence": [ { "database": "UniProtKB", "id": "P13945", "url": "https://www.uniprot.org/uniprot/P13945" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P13945", "url": "https://www.uniprot.org/uniprot/P13945" } ], "pmid": "" }, { "name": "brown fat cell differentiation", "id": "GO:0050873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050873", "evidence": [ { "database": "UniProtKB", "id": "P13945", "url": "https://www.uniprot.org/uniprot/P13945" } ], "pmid": "" }, { "name": "adenylate cyclase-activating adrenergic receptor signaling pathway", "id": "GO:0071880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071880", "evidence": [ { "database": "UniProtKB", "id": "P13945", "url": "https://www.uniprot.org/uniprot/P13945" } ], "pmid": "" }, { "name": "carbohydrate metabolic process", "id": "GO:0005975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005975", "evidence": [ { "database": "UniProtKB", "id": "P13945", "url": "https://www.uniprot.org/uniprot/P13945" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger", "id": "GO:0007187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007187", "evidence": [ { "database": "UniProtKB", "id": "P13945", "url": "https://www.uniprot.org/uniprot/P13945" } ], "pmid": "" }, { "name": "eating behavior", "id": "GO:0042755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042755", "evidence": [ { "database": "UniProtKB", "id": "P13945", "url": "https://www.uniprot.org/uniprot/P13945" } ], "pmid": "" }, { "name": "adenylate cyclase-modulating G protein-coupled receptor signaling pathway", "id": "GO:0007188", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007188", "evidence": [ { "database": "UniProtKB", "id": "P13945", "url": "https://www.uniprot.org/uniprot/P13945" } ], "pmid": "" }, { "name": "diet induced thermogenesis", "id": "GO:0002024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002024", "evidence": [ { "database": "UniProtKB", "id": "P13945", "url": "https://www.uniprot.org/uniprot/P13945" } ], "pmid": "" }, { "name": "norepinephrine-epinephrine-mediated vasodilation involved in regulation of systemic arterial blood pressure", "id": "GO:0002025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002025", "evidence": [ { "database": "UniProtKB", "id": "P13945", "url": "https://www.uniprot.org/uniprot/P13945" } ], "pmid": "" }, { "name": "energy reserve metabolic process", "id": "GO:0006112", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006112", "evidence": [ { "database": "UniProtKB", "id": "P13945", "url": "https://www.uniprot.org/uniprot/P13945" } ], "pmid": "" }, { "name": "heat generation", "id": "GO:0031649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031649", "evidence": [ { "database": "UniProtKB", "id": "P13945", "url": "https://www.uniprot.org/uniprot/P13945" } ], "pmid": "" }, { "name": "negative regulation of multicellular organism growth", "id": "GO:0040015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040015", "evidence": [ { "database": "UniProtKB", "id": "P13945", "url": "https://www.uniprot.org/uniprot/P13945" } ], "pmid": "" }, { "name": "positive regulation of cold-induced thermogenesis", "id": "GO:0120162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120162", "evidence": [ { "database": "UniProtKB", "id": "P13945", "url": "https://www.uniprot.org/uniprot/P13945" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 6, "go_terms": [ { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P13945", "url": "https://www.uniprot.org/uniprot/P13945" } ], "pmid": "" }, { "name": "epinephrine binding", "id": "GO:0051379", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051379", "evidence": [ { "database": "UniProtKB", "id": "P13945", "url": "https://www.uniprot.org/uniprot/P13945" } ], "pmid": "" }, { "name": "norepinephrine binding", "id": "GO:0051380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051380", "evidence": [ { "database": "UniProtKB", "id": "P13945", "url": "https://www.uniprot.org/uniprot/P13945" } ], "pmid": "" }, { "name": "beta-adrenergic receptor activity", "id": "GO:0004939", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004939", "evidence": [ { "database": "UniProtKB", "id": "P13945", "url": "https://www.uniprot.org/uniprot/P13945" } ], "pmid": "" }, { "name": "beta3-adrenergic receptor activity", "id": "GO:0015052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015052", "evidence": [ { "database": "UniProtKB", "id": "P13945", "url": "https://www.uniprot.org/uniprot/P13945" } ], "pmid": "" }, { "name": "beta-3 adrenergic receptor binding", "id": "GO:0031699", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031699", "evidence": [ { "database": "UniProtKB", "id": "P13945", "url": "https://www.uniprot.org/uniprot/P13945" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 26, "end_pos": 28, "annotation": "n_glycosylation_sequon" }, { "start_pos": 8, "end_pos": 10, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [ 8, 26 ], "o_linked_sites": [], "snv_sites": [ 10, 25, 28, 203, 340 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 26, "end_pos": 28 }, { "start_pos": 8, "end_pos": 10 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 5 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 91 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }