{ "uniprot_canonical_ac": "P01019-1", "uniprot_ac": "P01019", "uniprot_id": "ANGT_HUMAN", "mass": { "chemical_mass": 52070.0, "monoisotopic_mass": 52070.0 }, "refseq": {}, "gene_names": [ { "name": "AGT", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P01019", "id": "P01019" }, { "name": "SERPINA8", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P01019", "id": "P01019" } ], "protein_names": [ { "name": "Angiotensinogen", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P01019" }, { "name": "Ang III", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01019" }, { "name": "Ang II", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01019" }, { "name": "Ang IV", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01019" }, { "name": "Ang I", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01019" }, { "name": "Angiotensin 1-10", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01019" }, { "name": "Angiotensin 1-8", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01019" }, { "name": "Angiotensin 2-8", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01019" }, { "name": "Angiotensin 3-8", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01019" }, { "name": "Angiotensin III", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01019" }, { "name": "Angiotensin II", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01019" }, { "name": "Angiotensin IV", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01019" }, { "name": "Angiotensin I", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01019" }, { "name": "Des-Asp[1]-angiotensin II", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01019" }, { "name": "Serpin A8", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01019" } ], "function": [ { "annotation": "Acts directly on vascular smooth muscle as a potent vasoconstrictor, affects cardiac contractility and heart rate through its action on the sympathetic nervous system, and alters renal sodium and water absorption through its ability to stimulate the zona glomerulosa cells of the adrenal cortex to synthesize and secrete aldosterone (PubMed:10619573, PubMed:17138938). Acts by binding to angiotensin receptors AGTR1 and AGTR2 (PubMed:1567413). Also binds the DEAR/FBXW7-AS1 receptor (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P01019", "url": "https://www.uniprot.org/uniprot/P01019#function" }, { "database": "PubMed", "id": "17138938", "url": "https://glygen.org/publication/PubMed/17138938" }, { "database": "PubMed", "id": "1567413", "url": "https://glygen.org/publication/PubMed/1567413" }, { "database": "PubMed", "id": "10619573", "url": "https://glygen.org/publication/PubMed/10619573" }, { "database": "UniProtKB", "id": "P01015", "url": "https://www.uniprot.org/uniprot/P01015#function" } ] }, { "annotation": "Essential component of the renin-angiotensin system (RAS), a potent regulator of blood pressure, body fluid and electrolyte homeostasis.", "evidence": [ { "database": "UniProtKB", "id": "A0A7P0T8D1", "url": "https://www.uniprot.org/uniprot/A0A7P0T8D1#function" }, { "database": "UniProtKB", "id": "ARBA00002747", "url": "https://www.uniprot.org/uniprot/ARBA00002747#function" }, { "database": "UniProtKB", "id": "A0A7P0T9S6", "url": "https://www.uniprot.org/uniprot/A0A7P0T9S6#function" }, { "database": "UniProtKB", "id": "P01019", "url": "https://www.uniprot.org/uniprot/P01019#function" }, { "database": "PubMed", "id": "17138938", "url": "https://glygen.org/publication/PubMed/17138938" }, { "database": "PubMed", "id": "10619573", "url": "https://glygen.org/publication/PubMed/10619573" }, { "database": "PubMed", "id": "1132082", "url": "https://glygen.org/publication/PubMed/1132082" }, { "database": "UniProtKB", "id": "A0A7P0TBH1", "url": "https://www.uniprot.org/uniprot/A0A7P0TBH1#function" }, { "database": "UniProtKB", "id": "A0A7P0TA52", "url": "https://www.uniprot.org/uniprot/A0A7P0TA52#function" } ] }, { "annotation": "Is a ligand for the G-protein coupled receptor MAS1 (By similarity). Has vasodilator and antidiuretic effects. Has an antithrombotic effect that involves MAS1-mediated release of nitric oxide from platelets (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P01019", "url": "https://www.uniprot.org/uniprot/P01019#function" }, { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprot/P11859#function" } ] }, { "annotation": "Stimulates aldosterone release.", "evidence": [ { "database": "UniProtKB", "id": "A0A7P0T8D1", "url": "https://www.uniprot.org/uniprot/A0A7P0T8D1#function" }, { "database": "UniProtKB", "id": "ARBA00029380", "url": "https://www.uniprot.org/uniprot/ARBA00029380#function" }, { "database": "UniProtKB", "id": "A0A7P0T9S6", "url": "https://www.uniprot.org/uniprot/A0A7P0T9S6#function" }, { "database": "UniProtKB", "id": "P01019", "url": "https://www.uniprot.org/uniprot/P01019#function" }, { "database": "PubMed", "id": "1132082", "url": "https://glygen.org/publication/PubMed/1132082" }, { "database": "UniProtKB", "id": "A0A7P0TBH1", "url": "https://www.uniprot.org/uniprot/A0A7P0TBH1#function" }, { "database": "UniProtKB", "id": "A0A7P0TA52", "url": "https://www.uniprot.org/uniprot/A0A7P0TA52#function" } ] } ], "disease": [ { "disease_id": "DOID:10825", "recommended_name": { "id": "DOID:10825", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10825", "name": "essential hypertension", "description": "A hypertension with no known cause. It is the most common type of hypertension." }, "synonyms": [ { "id": "DOID:10825", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10825", "name": "idiopathic hypertension", "description": "" }, { "id": "DOID:10825", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10825", "name": "primary hypertension", "description": "" }, { "id": "MONDO:0011384", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011384", "name": "hypertension, essential, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011384", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011384", "name": "hypertension, essential, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011384", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011384", "name": "hypertension, essential, susceptibility to, type 1", "description": "" }, { "id": "MONDO:0011384", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011384", "name": "Hyt1", "description": "" }, { "id": "MONDO:0011815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011815", "name": "hypertension, essential, susceptibility to, 3", "description": "" }, { "id": "MONDO:0011815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011815", "name": "hypertension, essential, susceptibility to, 3", "description": "" }, { "id": "MONDO:0011815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011815", "name": "hypertension, essential, susceptibility to, type 3", "description": "" }, { "id": "MONDO:0011815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011815", "name": "Hyt3", "description": "" }, { "id": "MONDO:0011440", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011440", "name": "hypertension, essential, susceptibility to, 2", "description": "" }, { "id": "MONDO:0011440", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011440", "name": "hypertension, essential, susceptibility to, 2", "description": "" }, { "id": "MONDO:0011440", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011440", "name": "hypertension, essential, susceptibility to, type 2", "description": "" }, { "id": "MONDO:0011440", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011440", "name": "Hyt2", "description": "" }, { "id": "MONDO:0012458", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012458", "name": "hypertension, essential, susceptibility to, 5", "description": "" }, { "id": "MONDO:0012458", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012458", "name": "hypertension, essential, susceptibility to, 5", "description": "" }, { "id": "MONDO:0012458", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012458", "name": "hypertension, essential, susceptibility to, type 5", "description": "" }, { "id": "MONDO:0012458", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012458", "name": "Hyt5", "description": "" }, { "id": "MONDO:0012458", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012458", "name": "hypertension, essential, body Mass-related", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "essential hypertension, genetic", "description": "An instance of essential hypertension that is caused by a modification of the individual's genome." }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "blood pressure regulation QTL", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "genetic essential hypertension", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "hypertension, essential, salt-sensitive", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "hypertension, essential, susceptibility to, 2", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "hypertension, essential, susceptibility to, 3", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "hypertension, essential, susceptibility to, 4", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "hypertension, essential, susceptibility to, 5", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "hypertension, essential, susceptibility to, 6", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "hypertension, susceptibility to", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "EHT", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "hypertension, essential", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "hypertension, essential, susceptibility to", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "hypertension, essential, susceptibility to, 1", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "hypertension, salt-sensitive essential, susceptibility to", "description": "" }, { "id": "MONDO:0012587", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012587", "name": "hypertension, essential, susceptibility to, 7", "description": "" }, { "id": "MONDO:0012587", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012587", "name": "hypertension, essential, susceptibility to, 7", "description": "" }, { "id": "MONDO:0012587", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012587", "name": "hypertension, essential, susceptibility to, type 7", "description": "" }, { "id": "MONDO:0012587", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012587", "name": "Hyt7", "description": "" }, { "id": "MONDO:0012599", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012599", "name": "hypertension, essential, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012599", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012599", "name": "HYT8", "description": "" }, { "id": "MONDO:0012599", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012599", "name": "hypertension, essential, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012109", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012109", "name": "hypertension, essential, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012109", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012109", "name": "hypertension, essential, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012109", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012109", "name": "hypertension, essential, susceptibility to, type 4", "description": "" }, { "id": "MONDO:0012109", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012109", "name": "Hyt4", "description": "" }, { "id": "MONDO:0012459", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012459", "name": "hypertension, essential, susceptibility to, 6", "description": "" }, { "id": "MONDO:0012459", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012459", "name": "hypertension, essential, susceptibility to, 6", "description": "" }, { "id": "MONDO:0012459", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012459", "name": "hypertension, essential, susceptibility to, type 6", "description": "" }, { "id": "MONDO:0012459", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012459", "name": "Hyt6", "description": "" }, { "id": "MONDO:0012459", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012459", "name": "hypertension, essential, kidney function-related", "description": "" }, { "id": "MIM:145500", "resource": "MIM", "url": "https://www.omim.org/entry/145500", "name": "Essential hypertension", "description": "Essential hypertension" } ], "evidence": [ { "id": "145500", "database": "MIM", "url": "https://www.omim.org/entry/145500" } ] }, { "disease_id": "MONDO:0009970", "recommended_name": { "id": "MONDO:0009970", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009970", "name": "renal tubular dysgenesis of genetic origin", "description": "An instance of renal tubular dysgenesis that is caused by a modification of the individual's genome." }, "synonyms": [ { "id": "MONDO:0009970", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009970", "name": "genetic renal tubular dysgenesis", "description": "" }, { "id": "MONDO:0009970", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009970", "name": "renal tubular dysgenesis of genetic origin", "description": "" }, { "id": "MONDO:0009970", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009970", "name": "RTD", "description": "" }, { "id": "MONDO:0009970", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009970", "name": "primitive renal tubule syndrome", "description": "" }, { "id": "MONDO:0009970", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009970", "name": "renal tubular dysgenesis", "description": "" }, { "id": "MONDO:0009970", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009970", "name": "renal tubular dysgenesis with choanal atresia and athelia", "description": "" }, { "id": "MIM:267430", "resource": "MIM", "url": "https://www.omim.org/entry/267430", "name": "Renal tubular dysgenesis", "description": "Renal tubular dysgenesis" } ], "evidence": [ { "id": "267430", "database": "MIM", "url": "https://www.omim.org/entry/267430" } ] } ], "snv": [ { "evidence": [ { "id": "rs1038351739", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1038351739" }, { "id": "rs1038351739", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1038351739#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 161, "end_pos": 161, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCT->DCT).", "chr_id": "1", "chr_pos": "230710343", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N161", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1490175031", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1490175031" }, { "id": "rs1490175031", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1490175031" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 161, "end_pos": 161, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCT->SCT).", "chr_id": "1", "chr_pos": "230710342", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N161", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs894744940", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs894744940" }, { "id": "rs894744940", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs894744940" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 264, "end_pos": 264, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DST->NST).", "chr_id": "1", "chr_pos": "230710034", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D264", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751803341", "database": "dbSNP", "url": 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"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 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"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, 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"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 - 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"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", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", 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"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": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P01019", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01019" } ], "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": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P01019", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01019" } ], "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": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P01019", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01019" } ], "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": "P01019", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01019" } ], "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": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P01019", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01019" } ], "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": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P01019", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01019" } ], "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": "No", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P01019", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01019" } ], "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": 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[ "Other" ] }, { "id": "267430", "url": "http://www.omim.org/entry/267430", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P01019", "url": "https://www.nextprot.org/entry/NX_P01019", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "GWKTGCS", "url": "https://omabrowser.org/oma/group/GWKTGCS/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5355105at2759", "url": "http://www.orthodb.org/?query=5355105at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11461", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11461", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11461:SF13", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11461:SF13", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1N9U", "url": "https://www.rcsb.org/structure/1N9U", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1N9V", "url": "https://www.rcsb.org/structure/1N9V", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2JP8", "url": "https://www.rcsb.org/structure/2JP8", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2WXW", "url": "https://www.rcsb.org/structure/2WXW", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2X0B", "url": "https://www.rcsb.org/structure/2X0B", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3CK0", "url": "https://www.rcsb.org/structure/3CK0", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3WOO", "url": "https://www.rcsb.org/structure/3WOO", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3WOR", "url": "https://www.rcsb.org/structure/3WOR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4AA1", "url": "https://www.rcsb.org/structure/4AA1", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4APH", "url": "https://www.rcsb.org/structure/4APH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4FYS", "url": "https://www.rcsb.org/structure/4FYS", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5E2Q", "url": "https://www.rcsb.org/structure/5E2Q", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5M3X", "url": "https://www.rcsb.org/structure/5M3X", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5M3Y", "url": "https://www.rcsb.org/structure/5M3Y", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5XJM", "url": "https://www.rcsb.org/structure/5XJM", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6I3F", "url": "https://www.rcsb.org/structure/6I3F", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6I3I", "url": "https://www.rcsb.org/structure/6I3I", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6JOD", "url": "https://www.rcsb.org/structure/6JOD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6OS0", "url": "https://www.rcsb.org/structure/6OS0", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7C6A", "url": "https://www.rcsb.org/structure/7C6A", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00079", "url": "http://pfam.xfam.org/family/PF00079", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P01019", "url": "https://pharos.nih.gov/targets/P01019", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000051442", "url": "https://proconsortium.org/app/entry/PR:000051442", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000051443", "url": "https://proconsortium.org/app/entry/PR:000051443", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000051444", "url": "https://proconsortium.org/app/entry/PR:000051444", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000051445", "url": "https://proconsortium.org/app/entry/PR:000051445", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000051446", "url": "https://proconsortium.org/app/entry/PR:000051446", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000051447", "url": "https://proconsortium.org/app/entry/PR:000051447", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000051448", "url": "https://proconsortium.org/app/entry/PR:000051448", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_P01019", "url": "http://purl.obolibrary.org/obo/PR_P01019", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-1989781", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1989781", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-2022377", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022377", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-416476", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000020", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000020", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A7P0T8D1", "url": "https://www.uniprot.org/uniprot/A0A7P0T8D1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0T8D1-1", "url": "https://www.uniprot.org/uniprot/A0A7P0T8D1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0T9S6", "url": "https://www.uniprot.org/uniprot/A0A7P0T9S6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0T9S6-1", "url": "https://www.uniprot.org/uniprot/A0A7P0T9S6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0TA52", "url": "https://www.uniprot.org/uniprot/A0A7P0TA52", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0TA52-1", "url": "https://www.uniprot.org/uniprot/A0A7P0TA52-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0TAP4", "url": "https://www.uniprot.org/uniprot/A0A7P0TAP4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0TAP4-1", "url": "https://www.uniprot.org/uniprot/A0A7P0TAP4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0TBH1", "url": "https://www.uniprot.org/uniprot/A0A7P0TBH1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0TBH1-1", "url": "https://www.uniprot.org/uniprot/A0A7P0TBH1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0Z441", "url": "https://www.uniprot.org/uniprot/A0A7P0Z441", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0Z441-1", "url": "https://www.uniprot.org/uniprot/A0A7P0Z441-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P01019", "url": "https://www.uniprot.org/uniprot/P01019", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P01019-1", "url": "https://www.uniprot.org/uniprot/P01019-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAPAGVSLRATILCLLAWAGLAAGDRVYIHPFHLVIHNESTCEQLAKANAGKPKDPTFIPAPIQAKTSPVDEKALQDQLVLVAAKLDTEDKLRAAMVGMLANFLGFRIYGMHSELWGVVHGATVLSPTAVFGTLASLYLGALDHTADRLQAILGVPWKDKNCTSRLDAHKVLSALQAVQGLLVAQGRADSQAQLLLSTVVGVFTAPGLHLKQPFVQGLALYTPVVLPRSLDFTELDVAAEKIDRFMQAVTGWKTGCSLMGASVDSTLAFNTYVHFQGKMKGFSLLAEPQEFWVDNSTSVSVPMLSGMGTFQHWSDIQDNFSVTQVPFTESACLLLIQPHYASDLDKVEGLTFQQNSLNWMKKLSPRTIHLTMPQLVLQGSYDLQDLLAQAELPAILHTELNLQKLSNDRIRVGEVLNSIFFELEADEREPTESTQQLNKPEVLEVTLNRPFLFAVYDQSATALHFLGRVANPLSTA", "length": 476, "header": "sp|P01019-1|ANGT_HUMAN Isoform 1 of Angiotensinogen OS=Homo sapiens OX=9606 GN=AGT PE=1 SV=4 CANONICAL=P01019-1" }, "isoforms": [ { "isoform_ac": "A0A7P0T8D1-1", "url": "", "sequence": { "sequence": "MAPAGVSLRATILCLLAWAGLAAGDRVYIHPFHLVIHNESTCEQLAKANAGKPKDPTFIPAPIQAKTSPVDEKALQDQLVLVAAKLDTEDKLRAAMVGMLANFLGFRIYGMHSELWGVVHGATVLSPTAVFGTLASLYLGALDHTADRLQAILGVPWKDKNCTSRLDAHKVLSALQAVQGLLVAQGRADSQAQLLLSTVVGVFTAPGLHLKQPFVQGLALYTPVVLPRSLDFTELDVAAEKIDRFMQAVTGWKTGCSLMGASVDSTLAFNTYVHFQGKMKGFSLLAEPQEFWVDNSTSVSVPMLSGMGTFQHWSDIQDNFSVTQVPFTESACLLLIQPHYASDLDKVEGLTFQQNSLNWMKKLSPRTIHLTMPQLVLQGSYDLQDLLAQAELPAILHTELNLQKLSNDRIRVGEVLNSIFFELEADEREPTESTQQLNKPEVLEVTLNRPFLFAVYDQSATALHFLGRVANPLSTA", "length": 476, "header": "tr|A0A7P0T8D1-1|ANGT_HUMAN Computationally mapped isoform of Angiotensinogen OS=Homo sapiens OX=9606 GN=AGT PE=1 SV=1 CANONICAL=P01019-1" }, "locus": { "chromosome": "1", "start_pos": 230710823, "end_pos": 230703144, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000681269", "url": "https://www.ensembl.org/id/ENST00000681269" }, { "database": "Ensembl Peptide", "id": "ENSP00000505985", "url": "https://www.ensembl.org/id/ENSP00000505985" } ] } }, { "isoform_ac": "A0A7P0T9S6-1", "url": "", "sequence": { "sequence": "MAPAGVSLRATILCLLAWAGLAAGDRVYIHPFHLVIHNESTCEQLAKANAGKPKDPTFIPAPIQAKTSPVDEKALQDQLVLVAAKLDTEDKLRAAMVGMLANFLGFRIYGMHSELWGVVHGATVLSPTAVFGTLASLYLGALDHTADRLQAILGVPWKDKNCTSRLDAHKVLSALQAVQGLLVAQGRADSQAQLLLSTVVGVFTAPGLHLKQPFVQGLALYTPVVLPRSLDFTELDVAAEKIDRFMQAVTGWKTGCSLMGASVDSTLAFNTYVHFQGKMKGFSLLAEPQEFWVDNSTSVSVPMLSGMGTFQHWSDIQDNFSVTQVPFTESACLLLIQPHYASDLDKVEGLTFQQNSLNWMKKLSPR", "length": 366, "header": "tr|A0A7P0T9S6-1|ANGT_HUMAN Computationally mapped isoform of Angiotensinogen OS=Homo sapiens OX=9606 GN=AGT PE=1 SV=1 CANONICAL=P01019-1" }, "locus": { "chromosome": "1", "start_pos": 230710823, "end_pos": 230705932, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000681772.1", "url": "https://www.ensembl.org/id/ENST00000681772.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000505829.1", "url": "https://www.ensembl.org/id/ENSP00000505829.1" } ] } }, { "isoform_ac": "A0A7P0TA52-1", "url": "", "sequence": { "sequence": "MAPAGVSLRATILCLLAWAGLAAGDRVYIHPFHLVIHNESTCEQLAKANAGKPKDPTFIPAPIQAKTSPVDEKALQDQLVLVAAKLDTEDKLRAAMVGMLANFLGFRIYGMHSELWGVVHGATVLSPTAVFGTLASLYLGALDHTADRLQAILGVPWKDKNCTSRLDAHKVLSALQAVQGLLVAQGRADSQAQLLLSTVVGVFTAPGLHLKQPFVQGLALYTPVVLPRSLDFTELDVAAEKIDRFMQAVTGWKTGCSLMGASVDSTLAFNTYVHFQGKMKGFSLLAEPQEFWVDNSTSVSVPMLSGMGTFQHWSDIQDNFSVTQVPFTESACLLLIQPHYASDLDKVEGLTFQQNSLNWMKKLSPRTIHLTMPQLVLQGSYDLQDLLAQAELPAILHTELNLQKLSNDRIRVGEGPPGFL", "length": 420, "header": "tr|A0A7P0TA52-1|A0A7P0TA52_HUMAN Computationally mapped isoform of Angiotensinogen OS=Homo sapiens OX=9606 GN=AGT PE=1 SV=1 CANONICAL=P01019-1" }, "locus": { "chromosome": "1", "start_pos": 230710823, "end_pos": 230703911, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000679684.1", "url": "https://www.ensembl.org/id/ENST00000679684.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000505981.1", "url": "https://www.ensembl.org/id/ENSP00000505981.1" } ] } }, { "isoform_ac": "A0A7P0TAP4-1", "url": "", "sequence": { "sequence": "MAPAGVSLRATILCLLAWAGLAAGDRVYIHPFHLVIHNESTCEQLAKANAGKPKDPTFIPAPIQAKTSPVDEKALQDQLVLVAAKLDTEDKLRAAMVGMLANFLGFRIYGMHSELWGVVHGATVLSPTAVFGTLASLYLGALDHTADRLQAILGVPWKDKNCTSRLDAHKVLSALQAVQGLLVAQGRADSQAQLLLSTVVGVFTAPGLHLKQPFVQGLALYTPVVLPRSLDFTELDVAAEKIDRFMQAVTGWKTGCSLMGASVDSTLAFNTYVHFQGLTFEQRRD", "length": 285, "header": "tr|A0A7P0TAP4-1|ANGT_HUMAN Computationally mapped isoform of Angiotensinogen OS=Homo sapiens OX=9606 GN=AGT PE=1 SV=1 CANONICAL=P01019-1" }, "locus": { "chromosome": "1", "start_pos": 230710823, "end_pos": 230694414, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000680783.1", "url": "https://www.ensembl.org/id/ENST00000680783.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000506329.1", "url": "https://www.ensembl.org/id/ENSP00000506329.1" } ] } }, { "isoform_ac": "A0A7P0TBH1-1", "url": "", "sequence": { "sequence": "MAPAGVSLRATILCLLAWAGLAAGDRVYIHPFHLVIHNESTCEQLAKANAGKPKDPTFIPAPIQAKTSPVDEKALQDQLVLVAAKLDTEDKLRAAMVGMLANFLGFRIYGMHSELWGVVHGATVLSPTAVFGTLASLYLGALDHTADRLQAILGVPWKDKNCTSRLDAHKVLSALQAVQGLLVAQGRADSQAQLLLSTVVGVFTAPGLHLKQPFVQGLALYTPVVLPRSLDFTELDVAAEKIDRFMQAVTGWKTGCSLMGASVDSTLAFNTYVHFQGKMKGFSLLAEPQEFWVDNSTSVSVPMLSGMGTFQHWSDIQDNFSVTQVPFTESACLLLIQPHYASDLDKVEGLTFQQNSLNWMKKLSPRTIHLTMPQLVLQGSYDLQDLLAQAELPAILHTELNLQKLSNDRIRVLNSIFFELEADEREPTESTQQLNKPEVLEVTLNRPFLFAVYDQSATALHFLGRVANPLSTA", "length": 473, "header": "tr|A0A7P0TBH1-1|ANGT_HUMAN Computationally mapped isoform of Angiotensinogen OS=Homo sapiens OX=9606 GN=AGT PE=1 SV=1 CANONICAL=P01019-1" }, "locus": { "chromosome": "1", "start_pos": 230710823, "end_pos": 230703144, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000679957.1", "url": "https://www.ensembl.org/id/ENST00000679957.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000506646.1", "url": "https://www.ensembl.org/id/ENSP00000506646.1" } ] } }, { "isoform_ac": "A0A7P0Z441-1", "url": "", "sequence": { "sequence": "MAPAGVSLRATILCLLAWAGLAAGDRVYIHPFHLVIHNESTCEQLAKANAGKPKDPTFIPAPIQAKTSPVDEKALQDQLVLVAAKLDTEDKLRAAMVGMLANFLGFRIYGMHSELWGVVHGATVLSPTAVFGTLASLYLGALDHTADRLQAILGVPWKDKNCTSRLDAHKVLSALQAVQGLLVAQGRADSQAQLLLSTVVGVFTAPGLHLKQPFVQGLALYTPVVLPRSLDFTELDVAAEKIDRFMQAVTGWKTGCSLMGASVDSTLAFNTYVHFQGSCSVTQAAV", "length": 286, "header": "tr|A0A7P0Z441-1|A0A7P0Z441_HUMAN Computationally mapped isoform of Angiotensinogen OS=Homo sapiens OX=9606 GN=AGT PE=1 SV=1 CANONICAL=P01019-1" }, "locus": { "chromosome": "1", "start_pos": 230710823, "end_pos": 230709398, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000679802.1", "url": "https://www.ensembl.org/id/ENST00000679802.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000505184.1", "url": "https://www.ensembl.org/id/ENSP00000505184.1" } ] } }, { "isoform_ac": "P01019-1", "url": "", "sequence": { "sequence": "MAPAGVSLRATILCLLAWAGLAAGDRVYIHPFHLVIHNESTCEQLAKANAGKPKDPTFIPAPIQAKTSPVDEKALQDQLVLVAAKLDTEDKLRAAMVGMLANFLGFRIYGMHSELWGVVHGATVLSPTAVFGTLASLYLGALDHTADRLQAILGVPWKDKNCTSRLDAHKVLSALQAVQGLLVAQGRADSQAQLLLSTVVGVFTAPGLHLKQPFVQGLALYTPVVLPRSLDFTELDVAAEKIDRFMQAVTGWKTGCSLMGASVDSTLAFNTYVHFQGKMKGFSLLAEPQEFWVDNSTSVSVPMLSGMGTFQHWSDIQDNFSVTQVPFTESACLLLIQPHYASDLDKVEGLTFQQNSLNWMKKLSPRTIHLTMPQLVLQGSYDLQDLLAQAELPAILHTELNLQKLSNDRIRVGEVLNSIFFELEADEREPTESTQQLNKPEVLEVTLNRPFLFAVYDQSATALHFLGRVANPLSTA", "length": 476, "header": "sp|P01019-1|ANGT_HUMAN Isoform 1 of Angiotensinogen OS=Homo sapiens OX=9606 GN=AGT PE=1 SV=4 CANONICAL=P01019-1" }, "locus": { "chromosome": "1", "start_pos": 230710823, "end_pos": 230703144, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000366667.6", "url": "https://www.ensembl.org/id/ENST00000366667.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000355627.5", "url": 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"name": "positive regulation of branching involved in ureteric bud morphogenesis", "id": "GO:0090190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090190", "evidence": [ { "database": "UniProtKB", "id": "P01019", "url": "https://www.uniprot.org/uniprot/P01019" } ], "pmid": "" }, { "name": "positive regulation of reactive oxygen species metabolic process", "id": "GO:2000379", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000379", "evidence": [ { "database": "UniProtKB", "id": "P01019", "url": "https://www.uniprot.org/uniprot/P01019" } ], "pmid": "" }, { "name": "positive regulation of extrinsic apoptotic signaling pathway", "id": "GO:2001238", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001238", "evidence": [ { "database": "UniProtKB", "id": "P01019", "url": "https://www.uniprot.org/uniprot/P01019" } ], "pmid": "" }, { "name": "positive regulation of gap junction assembly", "id": "GO:1903598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903598", "evidence": [ { "database": "UniProtKB", "id": "P01019", "url": "https://www.uniprot.org/uniprot/P01019" } ], "pmid": "" }, { "name": "regulation of cardiac conduction", "id": "GO:1903779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903779", "evidence": [ { "database": "UniProtKB", "id": "P01019", "url": "https://www.uniprot.org/uniprot/P01019" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "P01019", "url": "https://www.uniprot.org/uniprot/P01019" } ], "pmid": "" }, { "name": "positive regulation of fibroblast proliferation", "id": "GO:0048146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048146", "evidence": [ { "database": "UniProtKB", "id": "P01019", "url": "https://www.uniprot.org/uniprot/P01019" } ], "pmid": "" }, { "name": "negative regulation of MAP kinase activity", "id": "GO:0043407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043407", "evidence": [ { "database": "UniProtKB", "id": "P01019", "url": "https://www.uniprot.org/uniprot/P01019" } ], "pmid": "" }, { "name": "positive regulation of epithelial to mesenchymal transition", "id": "GO:0010718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010718", "evidence": [ { "database": "UniProtKB", "id": "P01019", "url": "https://www.uniprot.org/uniprot/P01019" } ], "pmid": "" }, { "name": "regulation of blood volume by renin-angiotensin", "id": "GO:0002016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002016", "evidence": [ { "database": "UniProtKB", "id": "P01019", "url": "https://www.uniprot.org/uniprot/P01019" } ], "pmid": "" }, { "name": "renal system process", "id": "GO:0003014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003014", "evidence": [ { "database": "UniProtKB", "id": "P01019", "url": "https://www.uniprot.org/uniprot/P01019" } ], "pmid": "" }, { "name": "positive regulation of activation of Janus kinase activity", "id": "GO:0010536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010536", "evidence": [ { "database": "UniProtKB", "id": "P01019", "url": "https://www.uniprot.org/uniprot/P01019" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle hypertrophy", "id": "GO:0010613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010613", "evidence": [ { "database": "UniProtKB", "id": "P01019", "url": "https://www.uniprot.org/uniprot/P01019" } ], "pmid": "" }, { "name": "response to muscle activity involved in regulation of muscle adaptation", "id": "GO:0014873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014873", "evidence": [ { "database": "UniProtKB", "id": "P01019", "url": "https://www.uniprot.org/uniprot/P01019" } ], "pmid": "" }, { "name": "regulation of extracellular matrix assembly", "id": "GO:1901201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901201", "evidence": [ { "database": "UniProtKB", "id": "P01019", "url": "https://www.uniprot.org/uniprot/P01019" } ], "pmid": "" }, { "name": "positive regulation of extracellular matrix assembly", "id": "GO:1901203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901203", "evidence": [ { "database": "UniProtKB", "id": "P01019", "url": "https://www.uniprot.org/uniprot/P01019" } ], "pmid": "" }, { "name": "positive regulation of miRNA transcription", "id": "GO:1902895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902895", "evidence": [ { "database": "UniProtKB", "id": "P01019", "url": "https://www.uniprot.org/uniprot/P01019" } ], "pmid": "" }, { "name": "response to angiotensin", "id": "GO:1990776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990776", "evidence": [ { "database": "UniProtKB", "id": "P01019", "url": "https://www.uniprot.org/uniprot/P01019" } ], "pmid": "" }, { "name": "positive regulation of transforming growth factor beta1 activation", "id": "GO:1901394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901394", "evidence": [ { "database": "UniProtKB", "id": "P01019", "url": "https://www.uniprot.org/uniprot/P01019" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "angiotensinogen N-glycosylated 1 (human)", "definition": "An angiotensinogen (human) that has been N-glycosylated at the residue equivalent to Asn-47 of the amino acid sequence represented by UniProtKB:P01019-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P01019-1, Asn-47, MOD:00160~GNO:G00912UN. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000051442", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051442" } ] }, { "name": "angiotensinogen N-glycosylated 2 (human)", "definition": "An angiotensinogen (human) that has been N-glycosylated at the residue equivalent to Asn-47 of the amino acid sequence represented by UniProtKB:P01019-1, in which the glycan composition is represented by GlyTouCan:G08293MJ. Example: UniProtKB:P01019-1, Asn-47, MOD:00160~GNO:G08293MJ. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000051443", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051443" } ] }, { "name": "angiotensinogen N-glycosylated 3 (human)", "definition": "An angiotensinogen (human) that has been N-glycosylated at the residue equivalent to Asn-47 of the amino acid sequence represented by UniProtKB:P01019-1, in which the glycan composition is represented by GlyTouCan:G10486CT. Example: UniProtKB:P01019-1, Asn-47, MOD:00160~GNO:G10486CT. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000051444", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051444" } ] }, { "name": "angiotensinogen N-glycosylated 4 (human)", "definition": "An angiotensinogen (human) that has been N-glycosylated at the residue equivalent to Asn-47 of the amino acid sequence represented by UniProtKB:P01019-1, in which the glycan composition is represented by GlyTouCan:G27947YN. Example: UniProtKB:P01019-1, Asn-47, MOD:00160~GNO:G27947YN. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000051445", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051445" } ] }, { "name": "angiotensinogen N-glycosylated 5 (human)", "definition": "An angiotensinogen (human) that has been N-glycosylated at the residue equivalent to Asn-47 of the amino acid sequence represented by UniProtKB:P01019-1, in which the glycan composition is represented by GlyTouCan:G40926MX. Example: UniProtKB:P01019-1, Asn-47, MOD:00160~GNO:G40926MX. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000051446", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051446" } ] }, { "name": "angiotensinogen N-glycosylated 6 (human)", "definition": "An angiotensinogen (human) that has been N-glycosylated at the residue equivalent to Asn-47 of the amino acid sequence represented by UniProtKB:P01019-1, in which the glycan composition is represented by GlyTouCan:G59626AS. Example: UniProtKB:P01019-1, Asn-47, MOD:00160~GNO:G59626AS. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000051447", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051447" } ] }, { "name": "angiotensinogen O-glycosylated 1 (human)", "definition": "An angiotensinogen (human) that has been O-glycosylated at the residue equivalent to Thr-440 of the amino acid sequence represented by UniProtKB:P01019-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P01019-1, Thr-440, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000051448", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051448" } ] } ], "site_annotation": [ { "start_pos": 161, "end_pos": 163, "annotation": "n_glycosylation_sequon" }, { "start_pos": 295, "end_pos": 297, "annotation": "n_glycosylation_sequon" }, { "start_pos": 319, "end_pos": 321, "annotation": "n_glycosylation_sequon" }, { "start_pos": 38, "end_pos": 40, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Beta-decarboxylation of Asp-25 in angiotensin-2, by mononuclear leukocytes produces alanine (PubMed:17138938). The resulting peptide form, angiotensin-A, has the same affinity for the AT1 receptor as angiotensin-2, but a higher affinity for the AT2 receptor (PubMed:17138938).", "evidence": [ { "database": "UniProtKB", "id": "P01019", "url": "https://www.uniprot.org/uniprot/P01019" }, { "database": "PubMed", "id": "17138938", "url": "https://glygen.org/publication/PubMed/17138938" } ] }, { "annotation": "In response to low blood pressure, the enzyme renin/REN cleaves angiotensinogen to produce angiotensin-1 (PubMed:12045255). Angiotensin-1 is a substrate of ACE (angiotensin converting enzyme) that removes a dipeptide to yield the physiologically active peptide angiotensin-2 (PubMed:4322742, PubMed:10969042). Angiotensin-1 and angiotensin-2 can be further processed to generate angiotensin-3, angiotensin-4 (PubMed:10969042, PubMed:11815627). Angiotensin 1-9 is cleaved from angiotensin-1 by ACE2 and can be further processed by ACE to produce angiotensin 1-7, angiotensin 1-5 and angiotensin 1-4 (PubMed:10969042, PubMed:11815627). Angiotensin 1-7 has also been proposed to be cleaved from angiotensin-2 by ACE2 or from angiotensin-1 by MME (neprilysin) (PubMed:15283675).", "evidence": [ { "database": "UniProtKB", "id": "P01019", "url": "https://www.uniprot.org/uniprot/P01019" }, { "database": "PubMed", "id": "12045255", "url": "https://glygen.org/publication/PubMed/12045255" }, { "database": "PubMed", "id": "10969042", "url": "https://glygen.org/publication/PubMed/10969042" }, { "database": "PubMed", "id": "4322742", "url": "https://glygen.org/publication/PubMed/4322742" }, { "database": "PubMed", "id": "15283675", "url": "https://glygen.org/publication/PubMed/15283675" }, { "database": "PubMed", "id": "11815627", "url": "https://glygen.org/publication/PubMed/11815627" } ] }, { "annotation": "The disulfide bond is labile. Angiotensinogen is present in the circulation in a near 40:60 ratio with the oxidized disulfide-bonded form, which preferentially interacts with receptor-bound renin.", "evidence": [ { "database": "UniProtKB", "id": "P01019", "url": "https://www.uniprot.org/uniprot/P01019" }, { "database": "PubMed", "id": "20927107", "url": "https://glygen.org/publication/PubMed/20927107" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [ 38, 161, 295, 319 ], "o_linked_sites": [], "snv_sites": [ 38, 40, 161, 264, 294, 295, 296, 297, 321, 419, 440 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 161, "end_pos": 163 }, { "start_pos": 295, "end_pos": 297 }, { "start_pos": 319, "end_pos": 321 }, { "start_pos": 38, "end_pos": 40 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 4 }, { "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": 4 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 4 }, { "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_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": 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_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": 15 }, { "field": "total_sites", "count": 11 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 15 }, { "field": "total_sites", "count": 11 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 214 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }