{
"uniprot_canonical_ac": "P12821-1",
"uniprot_ac": "P12821",
"uniprot_id": "ACE_HUMAN",
"mass": {
"chemical_mass": 149715.0,
"monoisotopic_mass": 149715.0
},
"refseq": {
"ac": "NP_000780",
"name": "angiotensin-converting enzyme isoform 1 precursor",
"summary": "This gene encodes an enzyme involved in blood pressure regulation and electrolyte balance. It catalyzes the conversion of angiotensin I into a physiologically active peptide angiotensin II. Angiotensin II is a potent vasopressor and aldosterone-stimulating peptide that controls blood pressure and fluid-electrolyte balance. This angiotensin converting enzyme (ACE) also inactivates the vasodilator protein, bradykinin. Accordingly, the encoded enzyme increases blood pressure and is a drug target of ACE inhibitors, which are often prescribed to reduce blood pressure. This enzyme additionally plays a role in fertility through its ability to cleave and release GPI-anchored membrane proteins in spermatozoa. Many studies have associated the presence or absence of a 287 bp Alu repeat element in this gene with the levels of circulating enzyme. This polymorphism, as well as mutations in this gene, have been implicated in a wide variety of diseases including cardiovascular pathophysiologies, psoriasis, renal disease, stroke, and Alzheimer's disease. Regulation of the homologous ACE2 gene may be involved in progression of disease caused by several human coronaviruses, including SARS-CoV and SARS-CoV-2. Alternative splicing results in multiple transcript variants encoding both somatic (sACE) and male-specific testicular (tACE) isoforms. [provided by RefSeq, Sep 2020].",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000780"
},
"gene_names": [
{
"name": "ACE",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/P12821",
"id": "P12821"
},
{
"name": "ACE1; CD143; DCP; DCP1",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000780",
"id": "NP_000780"
},
{
"name": "ACE",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000780",
"id": "NP_000780"
},
{
"name": "DCP1",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/P12821",
"id": "P12821"
},
{
"name": "DCP",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/P12821",
"id": "P12821"
}
],
"protein_names": [
{
"name": "Angiotensin-converting enzyme",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "P12821"
},
{
"name": "3.4.15.1",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P12821"
},
{
"name": "ACE",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P12821"
},
{
"name": "Dipeptidyl carboxypeptidase I",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P12821"
},
{
"name": "Kininase II",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P12821"
},
{
"name": "angiotensin-converting enzyme isoform 1 precursor",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000780",
"id": "NP_000780"
},
{
"name": "kininase II; CD143 antigen; peptidase P; carboxycathepsin; dipeptidyl carboxypeptidase 1; dipeptidyl carboxypeptidase I; angiotensin I converting enzyme (peptidyl-dipeptidase A) 1",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000780",
"id": "NP_000780"
}
],
"function": [
{
"annotation": "Combinatorial analysis of ACE and ACE2 polymorphisms reveals protection against COVID-19 worsening: A genetic association study in Brazilian patients. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000780",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000780"
},
{
"database": "PubMed",
"id": "38032879",
"url": "https://glygen.org/publication/PubMed/38032879"
}
]
},
{
"annotation": "Correlation between the insertion-deletion variant of the angiotensin-converting enzyme gene and various classes of heart failure. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000780",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000780"
},
{
"database": "PubMed",
"id": "38158675",
"url": "https://glygen.org/publication/PubMed/38158675"
}
]
},
{
"annotation": "Dipeptidyl carboxypeptidase that removes dipeptides from the C-terminus of a variety of circulating hormones, such as angiotensin I, bradykinin or enkephalins, thereby playing a key role in the regulation of blood pressure, electrolyte homeostasis or synaptic plasticity (PubMed:2558109, PubMed:4322742, PubMed:7683654, PubMed:7523412, PubMed:15615692, PubMed:20826823). Composed of two similar catalytic domains, each possessing a functional active site, with different selectivity for substrates (PubMed:1851160, PubMed:1320019, PubMed:7683654, PubMed:7876104, PubMed:10913258, PubMed:19773553). Plays a major role in the angiotensin-renin system that regulates blood pressure and sodium retention by the kidney by converting angiotensin I to angiotensin II, resulting in an increase of the vasoconstrictor activity of angiotensin (PubMed:4322742, PubMed:1851160, PubMed:11432860, PubMed:19773553, PubMed:23056909). Also able to inactivate bradykinin, a potent vasodilator, and therefore enhance the blood pressure response (PubMed:2558109, PubMed:6055465, PubMed:4322742, PubMed:6270633, PubMed:7683654, PubMed:15615692). Acts as a regulator of synaptic transmission by mediating cleavage of neuropeptide hormones, such as substance P, neurotensin or enkephalins (PubMed:656131, PubMed:6270633, PubMed:6208535, PubMed:15615692). Catalyzes degradation of different enkephalin neuropeptides (Met-enkephalin, Leu-enkephalin, Met-enkephalin-Arg-Phe and possibly Met-enkephalin-Arg-Gly-Leu) (PubMed:656131, PubMed:6270633, PubMed:2982830). Acts as a regulator of synaptic plasticity in the nucleus accumbens of the brain by mediating cleavage of Met-enkephalin-Arg-Phe, a strong ligand of Mu-type opioid receptor OPRM1, into Met-enkephalin (By similarity). Met-enkephalin-Arg-Phe cleavage by ACE decreases activation of OPRM1, leading to long-term synaptic potentiation of glutamate release (By similarity). Also acts as a regulator of hematopoietic stem cell differentiation by mediating degradation of hemoregulatory peptide N-acetyl-SDKP (AcSDKP) (PubMed:8257427, PubMed:7876104, PubMed:8609242, PubMed:26403559). Acts as a regulator of cannabinoid signaling pathway by mediating degradation of hemopressin, an antagonist peptide of the cannabinoid receptor CNR1 (PubMed:18077343). Involved in amyloid-beta metabolism by catalyzing degradation of Amyloid-beta protein 40 and Amyloid-beta protein 42 peptides, thereby preventing plaque formation (PubMed:11604391, PubMed:16154999, PubMed:19773553). Catalyzes cleavage of cholecystokinin (maturation of Cholecystokinin-8 and Cholecystokinin-5) and Gonadoliberin-1 (both maturation and degradation) hormones (PubMed:2983326, PubMed:7683654, PubMed:9371719, PubMed:10336644). Degradation of hemoregulatory peptide N-acetyl-SDKP (AcSDKP) and amyloid-beta proteins is mediated by the N-terminal catalytic domain, while angiotensin I and cholecystokinin cleavage is mediated by the C-terminal catalytic region (PubMed:7876104, PubMed:10336644, PubMed:19773553).",
"evidence": [
{
"database": "UniProtKB",
"id": "P12821",
"url": "https://www.uniprot.org/uniprot/P12821#function"
},
{
"database": "PubMed",
"id": "11432860",
"url": "https://glygen.org/publication/PubMed/11432860"
},
{
"database": "PubMed",
"id": "1320019",
"url": "https://glygen.org/publication/PubMed/1320019"
},
{
"database": "PubMed",
"id": "19773553",
"url": "https://glygen.org/publication/PubMed/19773553"
},
{
"database": "PubMed",
"id": "15615692",
"url": "https://glygen.org/publication/PubMed/15615692"
},
{
"database": "PubMed",
"id": "10336644",
"url": "https://glygen.org/publication/PubMed/10336644"
},
{
"database": "PubMed",
"id": "16154999",
"url": "https://glygen.org/publication/PubMed/16154999"
},
{
"database": "PubMed",
"id": "7683654",
"url": "https://glygen.org/publication/PubMed/7683654"
},
{
"database": "PubMed",
"id": "7876104",
"url": "https://glygen.org/publication/PubMed/7876104"
},
{
"database": "PubMed",
"id": "1851160",
"url": "https://glygen.org/publication/PubMed/1851160"
},
{
"database": "UniProtKB",
"id": "P09470",
"url": "https://www.uniprot.org/uniprot/P09470#function"
},
{
"database": "PubMed",
"id": "9371719",
"url": "https://glygen.org/publication/PubMed/9371719"
},
{
"database": "PubMed",
"id": "8257427",
"url": "https://glygen.org/publication/PubMed/8257427"
},
{
"database": "PubMed",
"id": "18077343",
"url": "https://glygen.org/publication/PubMed/18077343"
},
{
"database": "PubMed",
"id": "656131",
"url": "https://glygen.org/publication/PubMed/656131"
},
{
"database": "PubMed",
"id": "10913258",
"url": "https://glygen.org/publication/PubMed/10913258"
},
{
"database": "PubMed",
"id": "2982830",
"url": "https://glygen.org/publication/PubMed/2982830"
},
{
"database": "PubMed",
"id": "2983326",
"url": "https://glygen.org/publication/PubMed/2983326"
},
{
"database": "PubMed",
"id": "11604391",
"url": "https://glygen.org/publication/PubMed/11604391"
},
{
"database": "PubMed",
"id": "4322742",
"url": "https://glygen.org/publication/PubMed/4322742"
},
{
"database": "PubMed",
"id": "7523412",
"url": "https://glygen.org/publication/PubMed/7523412"
},
{
"database": "PubMed",
"id": "6055465",
"url": "https://glygen.org/publication/PubMed/6055465"
},
{
"database": "PubMed",
"id": "23056909",
"url": "https://glygen.org/publication/PubMed/23056909"
},
{
"database": "PubMed",
"id": "26403559",
"url": "https://glygen.org/publication/PubMed/26403559"
},
{
"database": "PubMed",
"id": "20826823",
"url": "https://glygen.org/publication/PubMed/20826823"
},
{
"database": "PubMed",
"id": "6270633",
"url": "https://glygen.org/publication/PubMed/6270633"
},
{
"database": "PubMed",
"id": "6208535",
"url": "https://glygen.org/publication/PubMed/6208535"
},
{
"database": "PubMed",
"id": "8609242",
"url": "https://glygen.org/publication/PubMed/8609242"
},
{
"database": "PubMed",
"id": "2558109",
"url": "https://glygen.org/publication/PubMed/2558109"
}
]
},
{
"annotation": "Impact of ACE I gene insertion/deletion, A-240T polymorphisms and the renin-angiotensin-aldosterone system on COVID-19 disease. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000780",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000780"
},
{
"database": "PubMed",
"id": "38200555",
"url": "https://glygen.org/publication/PubMed/38200555"
}
]
},
{
"annotation": "Isoform produced by alternative promoter usage that is specifically expressed in spermatocytes and adult testis, and which is required for male fertility (PubMed:1651327, PubMed:1668266). In contrast to somatic isoforms, only contains one catalytic domain (PubMed:1651327, PubMed:1668266). Acts as a dipeptidyl carboxypeptidase that removes dipeptides from the C-terminus of substrates (PubMed:1668266, PubMed:24297181). The identity of substrates that are needed for male fertility is unknown (By similarity). May also have a glycosidase activity which releases GPI-anchored proteins from the membrane by cleaving the mannose linkage in the GPI moiety. The GPIase activity was reported to be essential for the egg-binding ability of the sperm (By similarity). This activity is however unclear and has been challenged by other groups, suggesting that it may be indirect (By similarity).",
"evidence": [
{
"database": "UniProtKB",
"id": "P12821",
"url": "https://www.uniprot.org/uniprot/P12821#function"
},
{
"database": "PubMed",
"id": "1668266",
"url": "https://glygen.org/publication/PubMed/1668266"
},
{
"database": "UniProtKB",
"id": "P09470",
"url": "https://www.uniprot.org/uniprot/P09470#function"
},
{
"database": "PubMed",
"id": "1651327",
"url": "https://glygen.org/publication/PubMed/1651327"
},
{
"database": "PubMed",
"id": "24297181",
"url": "https://glygen.org/publication/PubMed/24297181"
}
]
},
{
"annotation": "POLYMORPHISM OF ACE AND AT2R1 GENES AS A GENETIC BACKGROUND FOR DIFFERENT TYPES OF ENCEPHALOPATHIES.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000780",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000780"
},
{
"database": "PubMed",
"id": "38112365",
"url": "https://glygen.org/publication/PubMed/38112365"
}
]
},
{
"annotation": "Relationship between Angiotensin-Converting Enzyme Insertion/Deletion Polymorphism and the Risk of COVID-19: A Meta-Analysis. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000780",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000780"
},
{
"database": "PubMed",
"id": "38058963",
"url": "https://glygen.org/publication/PubMed/38058963"
}
]
},
{
"annotation": "Soluble form that is released in blood plasma and other body fluids following proteolytic cleavage in the juxtamembrane stalk region.",
"evidence": [
{
"database": "UniProtKB",
"id": "J3KSQ5",
"url": "https://www.uniprot.org/uniprot/J3KSQ5#function"
},
{
"database": "UniProtKB",
"id": "ARBA00037200",
"url": "https://www.uniprot.org/uniprot/ARBA00037200#function"
},
{
"database": "UniProtKB",
"id": "J3KTB8",
"url": "https://www.uniprot.org/uniprot/J3KTB8#function"
},
{
"database": "UniProtKB",
"id": "J3QLR4",
"url": "https://www.uniprot.org/uniprot/J3QLR4#function"
},
{
"database": "UniProtKB",
"id": "A0A0A0MSN4",
"url": "https://www.uniprot.org/uniprot/A0A0A0MSN4#function"
},
{
"database": "UniProtKB",
"id": "P12821",
"url": "https://www.uniprot.org/uniprot/P12821#function"
},
{
"database": "PubMed",
"id": "7499427",
"url": "https://glygen.org/publication/PubMed/7499427"
},
{
"database": "PubMed",
"id": "10769174",
"url": "https://glygen.org/publication/PubMed/10769174"
},
{
"database": "PubMed",
"id": "8253769",
"url": "https://glygen.org/publication/PubMed/8253769"
},
{
"database": "PubMed",
"id": "11274151",
"url": "https://glygen.org/publication/PubMed/11274151"
}
]
},
{
"annotation": "This gene encodes an enzyme involved in blood pressure regulation and electrolyte balance. It catalyzes the conversion of angiotensin I into a physiologically active peptide angiotensin II. Angiotensin II is a potent vasopressor and aldosterone-stimulating peptide that controls blood pressure and fluid-electrolyte balance. This angiotensin converting enzyme (ACE) also inactivates the vasodilator protein, bradykinin. Accordingly, the encoded enzyme increases blood pressure and is a drug target of ACE inhibitors, which are often prescribed to reduce blood pressure. This enzyme additionally plays a role in fertility through its ability to cleave and release GPI-anchored membrane proteins in spermatozoa. Many studies have associated the presence or absence of a 287 bp Alu repeat element in this gene with the levels of circulating enzyme. This polymorphism, as well as mutations in this gene, have been implicated in a wide variety of diseases including cardiovascular pathophysiologies, psoriasis, renal disease, stroke, and Alzheimer's disease. Regulation of the homologous ACE2 gene may be involved in progression of disease caused by several human coronaviruses, including SARS-CoV and SARS-CoV-2. Alternative splicing results in multiple transcript variants encoding both somatic (sACE) and male-specific testicular (tACE) isoforms. [provided by RefSeq, Sep 2020].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000780",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000780"
}
]
}
],
"disease": [
{
"disease_id": "DOID:3526",
"recommended_name": {
"id": "DOID:3526",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3526",
"name": "cerebral infarction",
"description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain."
},
"synonyms": [
{
"id": "DOID:3526",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3526",
"name": "CVA - Cerebral infarction",
"description": ""
},
{
"id": "DOID:3526",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3526",
"name": "Cerebral infarct",
"description": ""
},
{
"id": "MONDO:0020671",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0020671",
"name": "obsolete susceptibility to ischemic stroke",
"description": ""
},
{
"id": "MONDO:0020671",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0020671",
"name": "cerebral infarction, susceptibility to",
"description": ""
},
{
"id": "MONDO:0020671",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0020671",
"name": "ischemic stroke, susceptibility to",
"description": ""
},
{
"id": "MONDO:0020671",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0020671",
"name": "stroke, ischemic, susceptibility to",
"description": ""
},
{
"id": "MONDO:0020671",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0020671",
"name": "stroke, susceptibility to",
"description": ""
},
{
"id": "MONDO:0020671",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0020671",
"name": "cerebral infarction",
"description": ""
},
{
"id": "MONDO:0020671",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0020671",
"name": "cerebrovascular accident",
"description": ""
},
{
"id": "MONDO:0020671",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0020671",
"name": "stroke, ischemic",
"description": ""
},
{
"id": "MIM:601367",
"resource": "MIM",
"url": "https://www.omim.org/entry/601367",
"name": "Ischemic stroke",
"description": "Ischemic stroke"
}
],
"evidence": [
{
"id": "601367",
"database": "MIM",
"url": "https://www.omim.org/entry/601367"
}
]
},
{
"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"
}
]
},
{
"disease_id": "MONDO:0012963",
"recommended_name": {
"id": "MONDO:0012963",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012963",
"name": "microvascular complications of diabetes, susceptibility to, 3",
"description": "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the ACE gene."
},
"synonyms": [
{
"id": "MONDO:0012963",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012963",
"name": "ACE microvascular complications of diabetes, susceptibility",
"description": ""
},
{
"id": "MONDO:0012963",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012963",
"name": "microvascular complications of diabetes 3",
"description": ""
},
{
"id": "MONDO:0012963",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012963",
"name": "microvascular complications of diabetes, susceptibility caused by mutation in ACE",
"description": ""
},
{
"id": "MONDO:0012963",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012963",
"name": "microvascular complications of diabetes, susceptibility to, 3",
"description": ""
},
{
"id": "MONDO:0012963",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012963",
"name": "microvascular complications of diabetes, susceptibility to, type 3",
"description": ""
},
{
"id": "MONDO:0012963",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012963",
"name": "MVCD3",
"description": ""
},
{
"id": "MONDO:0012963",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012963",
"name": "end-stage renal disease, diabetic, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012963",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012963",
"name": "nephropathy, diabetic, susceptibility to",
"description": ""
},
{
"id": "MIM:612624",
"resource": "MIM",
"url": "https://www.omim.org/entry/612624",
"name": "Microvascular complications of diabetes 3",
"description": "Microvascular complications of diabetes 3"
}
],
"evidence": [
{
"id": "612624",
"database": "MIM",
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{
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{
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"database": "PubMed",
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"url": "https://glygen.org/publication/PubMed/7961923"
}
]
},
{
"start_pos": 103,
"end_pos": 103,
"sequence_org": "E",
"sequence_mut": "D",
"comment": "In ACE(t)g0 mutant; abolished N-glycosylation leading to impaired stability and degradation; when associated with D-121, D-140, D-368 and D-617. In ACE(t)g2 mutant; decreased N-glycosylation without affecting stability; when associated with D-140, D-368 and D-617. In ACE(t)g3 mutant; decreased N-glycosylation leading to impaired stability and degradation; when associated with D-121, D-368 and D-617.",
"evidence": [
{
"database": "UniProtKB",
"id": "P12821",
"url": "https://www.uniprot.org/uniprot/P12821"
},
{
"database": "PubMed",
"id": "8626443",
"url": "https://glygen.org/publication/PubMed/8626443"
}
]
},
{
"start_pos": 1116,
"end_pos": 1116,
"sequence_org": "K",
"sequence_mut": "A",
"comment": "Decreased ability to cleave substance P and bradykinin. Reduced binding to captopril inhibitor.",
"evidence": [
{
"database": "UniProtKB",
"id": "P12821",
"url": "https://www.uniprot.org/uniprot/P12821"
},
{
"database": "PubMed",
"id": "15615692",
"url": "https://glygen.org/publication/PubMed/15615692"
}
]
},
{
"start_pos": 1125,
"end_pos": 1125,
"sequence_org": "Y",
"sequence_mut": "F",
"comment": "Decreased ability to cleave substance P and captopril inhibitor.",
"evidence": [
{
"database": "UniProtKB",
"id": "P12821",
"url": "https://www.uniprot.org/uniprot/P12821"
},
{
"database": "PubMed",
"id": "15615692",
"url": "https://glygen.org/publication/PubMed/15615692"
}
]
},
{
"start_pos": 1127,
"end_pos": 1127,
"sequence_org": "R",
"sequence_mut": "Q",
"comment": "Abolished dependence to chloride, leading to reduced peptidyl dipeptidase activity.",
"evidence": [
{
"database": "UniProtKB",
"id": "P12821",
"url": "https://www.uniprot.org/uniprot/P12821"
},
{
"database": "PubMed",
"id": "11432860",
"url": "https://glygen.org/publication/PubMed/11432860"
}
]
},
{
"start_pos": 1166,
"end_pos": 1166,
"sequence_org": "R",
"sequence_mut": "Q",
"comment": "Does not prevent cleavage and secretion of the soluble form, suggesting that processing can take place at different sites.",
"evidence": [
{
"database": "UniProtKB",
"id": "P12821",
"url": "https://www.uniprot.org/uniprot/P12821"
},
{
"database": "PubMed",
"id": "8253769",
"url": "https://glygen.org/publication/PubMed/8253769"
}
]
},
{
"start_pos": 121,
"end_pos": 121,
"sequence_org": "I",
"sequence_mut": "D",
"comment": "In ACE(t)g0 mutant; abolished N-glycosylation leading to impaired stability and degradation; when associated with D-103, D-140, D-368 and D-617. In ACE(t)g1 mutant; decreased N-glycosylation without affecting stability; when associated with D-140, D-368 and D-617. In ACE(t)g3 mutant; decreased N-glycosylation leading to impaired stability and degradation; when associated with D-103, D-368 and D-617.",
"evidence": [
{
"database": "UniProtKB",
"id": "P12821",
"url": "https://www.uniprot.org/uniprot/P12821"
},
{
"database": "PubMed",
"id": "8626443",
"url": "https://glygen.org/publication/PubMed/8626443"
}
]
},
{
"start_pos": 1229,
"end_pos": 1229,
"sequence_org": "N",
"sequence_mut": "Q",
"comment": "Increased cleavage and secretion of the soluble form by generating a new cleavage site.",
"evidence": [
{
"database": "UniProtKB",
"id": "P12821",
"url": "https://www.uniprot.org/uniprot/P12821"
},
{
"database": "PubMed",
"id": "11274151",
"url": "https://glygen.org/publication/PubMed/11274151"
}
]
},
{
"start_pos": 1299,
"end_pos": 1299,
"sequence_org": "S",
"sequence_mut": "A",
"comment": "Abolishes phosphorylation and decreases membrane retention.",
"evidence": [
{
"database": "UniProtKB",
"id": "P12821",
"url": "https://www.uniprot.org/uniprot/P12821"
},
{
"database": "PubMed",
"id": "21901117",
"url": "https://glygen.org/publication/PubMed/21901117"
},
{
"database": "PubMed",
"id": "12386153",
"url": "https://glygen.org/publication/PubMed/12386153"
}
]
},
{
"start_pos": 140,
"end_pos": 140,
"sequence_org": "Y",
"sequence_mut": "D",
"comment": "In ACE(t)g0 mutant; abolished N-glycosylation leading to impaired stability and degradation; when associated with D-103, D-121, D-368 and D-617. In ACE(t)g1 mutant; decreased N-glycosylation without affecting stability; when associated with D-121, D-368 and D-617. In ACE(t)g2 mutant; decreased N-glycosylation without affecting stability; when associated with D-103, D-368 and D-617.",
"evidence": [
{
"database": "UniProtKB",
"id": "P12821",
"url": "https://www.uniprot.org/uniprot/P12821"
},
{
"database": "PubMed",
"id": "8626443",
"url": "https://glygen.org/publication/PubMed/8626443"
}
]
},
{
"start_pos": 318,
"end_pos": 318,
"sequence_org": "N",
"sequence_mut": "D",
"comment": "In Ndom123456 mutant; abolished dipeptidyl carboxypeptidase activity; when associated with D-445 and D-509. In Ndom1234569 mutant; does not affect dipeptidyl carboxypeptidase activity; when associated with D-445.",
"evidence": [
{
"database": "UniProtKB",
"id": "P12821",
"url": "https://www.uniprot.org/uniprot/P12821"
},
{
"database": "PubMed",
"id": "20826823",
"url": "https://glygen.org/publication/PubMed/20826823"
}
]
},
{
"start_pos": 368,
"end_pos": 368,
"sequence_org": "N",
"sequence_mut": "D",
"comment": "In ACE(t)g0 mutant; abolished N-glycosylation leading to impaired stability and degradation; when associated with D-103, D-121, D-140 and D-617. In ACE(t)g1 mutant; decreased N-glycosylation without affecting stability; when associated with D-121, D-140 and D-617. In ACE(t)g2 mutant; decreased N-glycosylation without affecting stability; when associated with D-103, D-140 and D-617. In ACE(t)g3 mutant; decreased N-glycosylation leading to impaired stability and degradation; when associated with D-103, D-121 and D-617.",
"evidence": [
{
"database": "UniProtKB",
"id": "P12821",
"url": "https://www.uniprot.org/uniprot/P12821"
},
{
"database": "PubMed",
"id": "8626443",
"url": "https://glygen.org/publication/PubMed/8626443"
}
]
},
{
"start_pos": 390,
"end_pos": 394,
"sequence_org": "HEMGH",
"sequence_mut": "KEMGK",
"comment": "Abolished dipeptidyl carboxypeptidase activity; when associated with 988-K--K-992. Abolished N-terminal active sites, leading to impaired ability to degrade the hemoregulatory peptide N-acetyl-SDKP (AcSDKP). In contrast, does not affect cleavage of other substrates, such as Cholecystokinin-5.",
"evidence": [
{
"database": "UniProtKB",
"id": "P12821",
"url": "https://www.uniprot.org/uniprot/P12821"
},
{
"database": "PubMed",
"id": "1320019",
"url": "https://glygen.org/publication/PubMed/1320019"
},
{
"database": "PubMed",
"id": "10336644",
"url": "https://glygen.org/publication/PubMed/10336644"
},
{
"database": "PubMed",
"id": "7683654",
"url": "https://glygen.org/publication/PubMed/7683654"
},
{
"database": "PubMed",
"id": "7876104",
"url": "https://glygen.org/publication/PubMed/7876104"
},
{
"database": "PubMed",
"id": "1851160",
"url": "https://glygen.org/publication/PubMed/1851160"
},
{
"database": "PubMed",
"id": "7961923",
"url": "https://glygen.org/publication/PubMed/7961923"
}
]
},
{
"start_pos": 391,
"end_pos": 391,
"sequence_org": "E",
"sequence_mut": "D",
"comment": "Abolished peptidase activity, leading to increased levels of amyloid-beta; when associated with D-989.",
"evidence": [
{
"database": "UniProtKB",
"id": "P12821",
"url": "https://www.uniprot.org/uniprot/P12821"
},
{
"database": "PubMed",
"id": "19773553",
"url": "https://glygen.org/publication/PubMed/19773553"
},
{
"database": "PubMed",
"id": "16154999",
"url": "https://glygen.org/publication/PubMed/16154999"
}
]
},
{
"start_pos": 445,
"end_pos": 445,
"sequence_org": "N",
"sequence_mut": "D",
"comment": "In Ndom123456 mutant; abolished dipeptidyl carboxypeptidase activity; when associated with D-318 and D-445. In Ndom1234569 mutant; does not affect dipeptidyl carboxypeptidase activity; when associated with D-318.",
"evidence": [
{
"database": "UniProtKB",
"id": "P12821",
"url": "https://www.uniprot.org/uniprot/P12821"
},
{
"database": "PubMed",
"id": "20826823",
"url": "https://glygen.org/publication/PubMed/20826823"
}
]
},
{
"start_pos": 509,
"end_pos": 509,
"sequence_org": "N",
"sequence_mut": "D",
"comment": "In Ndom123456 mutant; abolished dipeptidyl carboxypeptidase activity; when associated with D-318 and D-445.",
"evidence": [
{
"database": "UniProtKB",
"id": "P12821",
"url": "https://www.uniprot.org/uniprot/P12821"
},
{
"database": "PubMed",
"id": "20826823",
"url": "https://glygen.org/publication/PubMed/20826823"
}
]
},
{
"start_pos": 529,
"end_pos": 529,
"sequence_org": "R",
"sequence_mut": "Q",
"comment": "Abolished dependence to chloride, leading to reduced peptidyl dipeptidase activity.",
"evidence": [
{
"database": "UniProtKB",
"id": "P12821",
"url": "https://www.uniprot.org/uniprot/P12821"
},
{
"database": "PubMed",
"id": "11432860",
"url": "https://glygen.org/publication/PubMed/11432860"
}
]
},
{
"start_pos": 553,
"end_pos": 553,
"sequence_org": "P",
"sequence_mut": "K",
"comment": "Abolished binding to chloride ion.",
"evidence": [
{
"database": "UniProtKB",
"id": "P12821",
"url": "https://www.uniprot.org/uniprot/P12821"
},
{
"database": "PubMed",
"id": "24297181",
"url": "https://glygen.org/publication/PubMed/24297181"
}
]
},
{
"start_pos": 553,
"end_pos": 553,
"sequence_org": "P",
"sequence_mut": "Q",
"comment": "Abolished binding to chloride ion.",
"evidence": [
{
"database": "UniProtKB",
"id": "P12821",
"url": "https://www.uniprot.org/uniprot/P12821"
},
{
"database": "PubMed",
"id": "24297181",
"url": "https://glygen.org/publication/PubMed/24297181"
}
]
},
{
"start_pos": 617,
"end_pos": 617,
"sequence_org": "N",
"sequence_mut": "D",
"comment": "In ACE(t)g0 mutant; abolished N-glycosylation leading to impaired stability and degradation; when associated with D-103, D-121, D-140 and D-368. In ACE(t)g1 mutant; decreased N-glycosylation without affecting stability; when associated with D-121, D-140 and D-368. In ACE(t)g2 mutant; decreased N-glycosylation without affecting stability; when associated with D-103, D-140 and D-368. In ACE(t)g3 mutant; decreased N-glycosylation leading to impaired stability and degradation; when associated with D-103, D-121 and D-368.",
"evidence": [
{
"database": "UniProtKB",
"id": "P12821",
"url": "https://www.uniprot.org/uniprot/P12821"
},
{
"database": "PubMed",
"id": "8626443",
"url": "https://glygen.org/publication/PubMed/8626443"
}
]
},
{
"start_pos": 988,
"end_pos": 992,
"sequence_org": "HEMGH",
"sequence_mut": "KEMGK",
"comment": "Abolished dipeptidyl carboxypeptidase activity; when associated with 390-K--K-394. Abolishes the second active site, preventing maturation of Cholecystokinin-5.",
"evidence": [
{
"database": "UniProtKB",
"id": "P12821",
"url": "https://www.uniprot.org/uniprot/P12821"
},
{
"database": "PubMed",
"id": "1320019",
"url": "https://glygen.org/publication/PubMed/1320019"
},
{
"database": "PubMed",
"id": "10336644",
"url": "https://glygen.org/publication/PubMed/10336644"
},
{
"database": "PubMed",
"id": "7683654",
"url": "https://glygen.org/publication/PubMed/7683654"
},
{
"database": "PubMed",
"id": "1851160",
"url": "https://glygen.org/publication/PubMed/1851160"
}
]
},
{
"start_pos": 989,
"end_pos": 989,
"sequence_org": "E",
"sequence_mut": "D",
"comment": "Abolished peptidase activity, leading to increased levels of amyloid-beta; when associated with D-391.",
"evidence": [
{
"database": "UniProtKB",
"id": "P12821",
"url": "https://www.uniprot.org/uniprot/P12821"
},
{
"database": "PubMed",
"id": "19773553",
"url": "https://glygen.org/publication/PubMed/19773553"
},
{
"database": "PubMed",
"id": "16154999",
"url": "https://glygen.org/publication/PubMed/16154999"
}
]
}
],
"expression_tissue": [
{
"tissue": {
"name": "Adult mammalian kidney",
"namespace": "UBERON",
"id": "0000082",
"url": "http://purl.obolibrary.org/obo/UBERON_0000082"
},
"score": "74.08",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000159640",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000159640"
}
]
},
{
"tissue": {
"name": "Oral cavity",
"namespace": "UBERON",
"id": "0000167",
"url": "http://purl.obolibrary.org/obo/UBERON_0000167"
},
"score": "59.22",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000159640",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000159640"
}
]
},
{
"tissue": {
"name": "Stomach",
"namespace": "UBERON",
"id": "0000945",
"url": "http://purl.obolibrary.org/obo/UBERON_0000945"
},
"score": "73.47",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000159640",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000159640"
}
]
},
{
"tissue": {
"name": "Esophagus",
"namespace": "UBERON",
"id": "0001043",
"url": "http://purl.obolibrary.org/obo/UBERON_0001043"
},
"score": "89.15",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000159640",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000159640"
}
]
},
{
"tissue": {
"name": "Rectum",
"namespace": "UBERON",
"id": "0001052",
"url": "http://purl.obolibrary.org/obo/UBERON_0001052"
},
"score": "83.54",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000159640",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000159640"
}
]
},
{
"tissue": {
"name": "Urinary bladder",
"namespace": "UBERON",
"id": "0001255",
"url": "http://purl.obolibrary.org/obo/UBERON_0001255"
},
"score": "68.18",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000159640",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000159640"
}
]
},
{
"tissue": {
"name": "Thyroid gland",
"namespace": "UBERON",
"id": "0002046",
"url": "http://purl.obolibrary.org/obo/UBERON_0002046"
},
"score": "85.65",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000159640",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000159640"
}
]
},
{
"tissue": {
"name": "Liver",
"namespace": "UBERON",
"id": "0002107",
"url": "http://purl.obolibrary.org/obo/UBERON_0002107"
},
"score": "68.47",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000159640",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000159640"
}
]
},
{
"tissue": {
"name": "Prostate gland",
"namespace": "UBERON",
"id": "0002367",
"url": "http://purl.obolibrary.org/obo/UBERON_0002367"
},
"score": "86.13",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000159640",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000159640"
}
]
},
{
"tissue": {
"name": "Thoracic mammary gland",
"namespace": "UBERON",
"id": "0005200",
"url": "http://purl.obolibrary.org/obo/UBERON_0005200"
},
"score": "80.3",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000159640",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000159640"
}
]
}
],
"expression_disease": [
{
"significant": "Yes",
"trend": "down",
"name": "Prostate cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10283",
"evidence": [
{
"database": "BioXpress",
"id": "P12821",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12821"
}
],
"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": "P12821",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12821"
}
],
"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": "No",
"trend": "down",
"name": "Urinary bladder cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11054",
"evidence": [
{
"database": "BioXpress",
"id": "P12821",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12821"
}
],
"disease": [
{
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"recommended_name": {
"id": "DOID:11054",
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"url": "http://disease-ontology.org/term/DOID:11054",
"name": "urinary bladder cancer",
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},
"synonyms": [
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},
{
"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",
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},
{
"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",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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"name": "malignant neoplasm of the bladder",
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},
{
"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",
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},
{
"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": "No",
"trend": "up",
"name": "Head and neck cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11934",
"evidence": [
{
"database": "BioXpress",
"id": "P12821",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12821"
}
],
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{
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"recommended_name": {
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},
"synonyms": [
{
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"resource": "Disease Ontology",
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"name": "head and neck neoplasm",
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},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
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"description": ""
},
{
"id": "DOID:11934",
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},
{
"id": "DOID:11934",
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}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Lung cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1324",
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{
"database": "BioXpress",
"id": "P12821",
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}
],
"disease": [
{
"disease_id": "DOID:1324",
"recommended_name": {
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"resource": "Disease Ontology",
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},
"synonyms": [
{
"id": "MONDO:0012159",
"resource": "MONDO",
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"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
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},
{
"id": "MONDO:0012159",
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},
{
"id": "MONDO:0012159",
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"name": "lung cancer susceptibility 1",
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},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
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},
{
"id": "MONDO:0012942",
"resource": "MONDO",
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"name": "LNCR3",
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},
{
"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",
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"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",
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},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
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},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "LNCR5",
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},
{
"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",
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"name": "lung cancer, protection against, autosomal dominant, somatic mutation",
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},
{
"id": "MONDO:0008903",
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"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",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
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"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",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of lung",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of the lung",
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},
{
"id": "MONDO:0008903",
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"name": "malignant tumor of lung",
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},
{
"id": "MONDO:0008903",
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"url": "https://monarchinitiative.org/disease/MONDO:0008903",
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},
{
"id": "MONDO:0008903",
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"name": "malignant tumour of lung",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of the lung",
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},
{
"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",
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},
{
"id": "MONDO:0008903",
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"url": "https://monarchinitiative.org/disease/MONDO:0008903",
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},
{
"id": "MONDO:0008903",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "alveolar cell carcinoma",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against",
"description": ""
},
{
"id": "MONDO:0008903",
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"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung neoplasm",
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},
{
"id": "MIM:211980",
"resource": "MIM",
"url": "https://www.omim.org/entry/211980",
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"description": "Lung cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Breast cancer [DO disease name]",
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],
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{
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},
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},
{
"id": "DOID:1612",
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},
{
"id": "DOID:1612",
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},
{
"id": "DOID:1612",
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},
{
"id": "DOID:1612",
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},
{
"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",
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"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",
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},
{
"id": "MONDO:0016419",
"resource": "MONDO",
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"name": "familial breast carcinoma",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
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"name": "familial cancer of breast",
"description": ""
},
{
"id": "MONDO:0016419",
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"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial cancer of the breast",
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},
{
"id": "MONDO:0016419",
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},
{
"id": "MONDO:0016419",
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},
{
"id": "MONDO:0016419",
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"name": "breast cancer, familial",
"description": ""
},
{
"id": "MONDO:0016419",
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"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, familial Male",
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},
{
"id": "MIM:114480",
"resource": "MIM",
"url": "https://www.omim.org/entry/114480",
"name": "Breast cancer",
"description": "Breast cancer"
}
]
}
]
},
{
"significant": "No",
"trend": "up",
"name": "Thyroid cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1781",
"evidence": [
{
"database": "BioXpress",
"id": "P12821",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12821"
}
],
"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": "P12821",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12821"
}
],
"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": "Yes",
"trend": "up",
"name": "Liver cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:3571",
"evidence": [
{
"database": "BioXpress",
"id": "P12821",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12821"
}
],
"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": "P12821",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12821"
}
],
"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": "up",
"name": "Esophageal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:5041",
"evidence": [
{
"database": "BioXpress",
"id": "P12821",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12821"
}
],
"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"
}
]
}
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"header": "tr|A0A0A0MSN4-1|ACE_HUMAN Computationally mapped isoform of Angiotensin-converting enzyme OS=Homo sapiens OX=9606 GN=ACE PE=1 SV=1 CANONICAL=P12821-1"
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"id": "ENST00000428043.5",
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},
{
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"id": "ENSP00000397593.2",
"url": "https://www.ensembl.org/id/ENSP00000397593.2"
}
]
}
},
{
"isoform_ac": "J3KRH5-1",
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"sequence": {
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"length": 145,
"header": "tr|J3KRH5-1|J3KRH5_HUMAN Computationally mapped isoform of Angiotensin I converting enzyme OS=Homo sapiens OX=9606 GN=ACE PE=3 SV=1 CANONICAL=P12821-1"
},
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{
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"url": "https://www.ensembl.org/id/ENSP00000462002.1"
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}
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{
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},
"locus": {
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},
{
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"id": "ENSP00000462280.1",
"url": "https://www.ensembl.org/id/ENSP00000462280.1"
}
]
}
},
{
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"header": "tr|J3KSQ5-1|ACE_HUMAN Computationally mapped isoform of Angiotensin-converting enzyme OS=Homo sapiens OX=9606 GN=ACE PE=1 SV=1 CANONICAL=P12821-1"
},
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"id": "ENST00000579314.5",
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},
{
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"id": "ENSP00000462599.1",
"url": "https://www.ensembl.org/id/ENSP00000462599.1"
}
]
}
},
{
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"header": "tr|J3KTB8-1|ACE_HUMAN Computationally mapped isoform of Angiotensin-converting enzyme OS=Homo sapiens OX=9606 GN=ACE PE=1 SV=1 CANONICAL=P12821-1"
},
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},
{
"database": "Ensembl Peptide",
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"url": "https://www.ensembl.org/id/ENSP00000462909.1"
}
]
}
},
{
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"header": "tr|J3KTH9-1|ACE_HUMAN Computationally mapped isoform of Angiotensin-converting enzyme OS=Homo sapiens OX=9606 GN=ACE PE=1 SV=1 CANONICAL=P12821-1"
},
"locus": {
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"id": "ENST00000582678.5",
"url": "https://www.ensembl.org/id/ENST00000582678.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000462995.1",
"url": "https://www.ensembl.org/id/ENSP00000462995.1"
}
]
}
},
{
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"length": 119,
"header": "tr|J3QLR4-1|ACE_HUMAN Computationally mapped isoform of Angiotensin-converting enzyme OS=Homo sapiens OX=9606 GN=ACE PE=1 SV=1 CANONICAL=P12821-1"
},
"locus": {
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"evidence": [
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"id": "ENST00000579726.5",
"url": "https://www.ensembl.org/id/ENST00000579726.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000463673.1",
"url": "https://www.ensembl.org/id/ENSP00000463673.1"
}
]
}
},
{
"isoform_ac": "J3QSC7-1",
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"header": "tr|J3QSC7-1|ACE_HUMAN Computationally mapped isoform of Angiotensin-converting enzyme OS=Homo sapiens OX=9606 GN=ACE PE=1 SV=1 CANONICAL=P12821-1"
},
"locus": {
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"url": "https://www.ensembl.org/id/ENST00000578839.5"
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{
"database": "Ensembl Peptide",
"id": "ENSP00000462110.2",
"url": "https://www.ensembl.org/id/ENSP00000462110.2"
}
]
}
},
{
"isoform_ac": "P12821-1",
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"length": 1306,
"header": "sp|P12821-1|ACE_HUMAN Isoform 1 of Angiotensin-converting enzyme OS=Homo sapiens OX=9606 GN=ACE PE=1 SV=1 CANONICAL=P12821-1"
},
"locus": {
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"start_pos": 63497363,
"end_pos": 63477095,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000290866.10",
"url": "https://www.ensembl.org/id/ENST00000290866.10"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000290866.4",
"url": "https://www.ensembl.org/id/ENSP00000290866.4"
}
]
}
},
{
"isoform_ac": "P12821-2",
"url": "",
"sequence": {
"sequence": "MGAASGRRGPGLLLPLPLLLLLPPQPALALDPGLQPGNFSADEAGAQLFAQSYNSSAEQVLFQSVAASWAHDTNITAENARRQEEAALLSQEFAEAWGQKAKELYEPIWQNFTDPQLRRIIGAVRTLGSANLPLAKRQQYNALLSNMSRIYSTAKVCLPNKTATCWSLDPDLTNILASSRSYAMLLFAWEGWHNAAGIPLKPLYEDFTALSNEAYKQDGFTDTGAYWRSWYNSPTFEDDLEHLYQQLEPLYLNLHAFVRRALHRRYGDRYINLRGPIPAHLLGDMWAQSWENIYDMVVPFPDKPNLDVTSTMLQQGWNATHMFRVAEEFFTSLELSPMPPEFWEGSMLEKPADGREVVCHASAWDFYNRKDFRIKQCTRVTMDQLSTVHHEMGHIQYYLQYKDLPVSLRRGANPGFHEAIGDVLALSVSTPEHLHKIGLLDRVTNDTESDINYLLKMALEKIAFLPFGYLVDQWRWGVFSGRTPPSRYNFDWWYLRTKYQGICPPVTRNETHFDAGAKFHVPNVTPYIRYFVSFVLQFQFHEALCKEAGYEGPLHQCDIYRSTKAGAKLRKVLQAGSSRPWQEVLKDMVGLDALDAQPLLKYFQPVTQWLQEQNQQNGEVLGWPEYQWHPPLPDNYPEGIDLVTDEAEASKFVEEYDRTSQVVWNEYAEANWNYNTNITTETSKILLQKNMQIANHTLKYGTQARKFDVNQLQNTTIKRIIKKVQDLERAALPAQELEEYNKILLDMETTYSVATVCHPNGSCLQLEPDLTNVMATSRKYEDLLWAWEGWRDKAGRAILQFYPKYVELINQAARLNGYVDAGDSWRSMYETPSLEQDLERLFQELQPLYLNLHAYVRRALHRHYGAQHINLEGPIPAHLLGNMWAQTWSNIYDLVVPFPSAPSMDTTEAMLKQGWTPRRMFKEADDFFTSLGLLPVPPEFWNKSMLEKPTDGREVVCHASAWDFYNGKDFRIKQCTTVNLEDLVVAHHEMGHIQYFMQYKDLPVALREGANPGFHEAIGDVLALSVSTPKHLHSLNLLSSEGGSDEHDINFLMKMALDKIAFIPFSYLVDQWRWRVFDGSITKENYNQEWWSLRLKYQGLCPPVPRTQGDFDPGAKFHIPSSVPYIRYFVSFIIQFHPFSQHTAA",
"length": 1145,
"header": "sp|P12821-2|ACE_HUMAN Isoform 2 of Angiotensin-converting enzyme OS=Homo sapiens OX=9606 GN=ACE PE=1 SV=1 CANONICAL=P12821-1"
},
"locus": {}
},
{
"isoform_ac": "P12821-3",
"url": "",
"sequence": {
"sequence": "MGQGWATAGLPSLLFLLLCYGHPLLVPSQEASQQVTVTHGTSSQATTSSQTTTHQATAHQTSAQSPNLVTDEAEASKFVEEYDRTSQVVWNEYAEANWNYNTNITTETSKILLQKNMQIANHTLKYGTQARKFDVNQLQNTTIKRIIKKVQDLERAALPAQELEEYNKILLDMETTYSVATVCHPNGSCLQLEPDLTNVMATSRKYEDLLWAWEGWRDKAGRAILQFYPKYVELINQAARLNGYVDAGDSWRSMYETPSLEQDLERLFQELQPLYLNLHAYVRRALHRHYGAQHINLEGPIPAHLLGNMWAQTWSNIYDLVVPFPSAPSMDTTEAMLKQGWTPRRMFKEADDFFTSLGLLPVPPEFWNKSMLEKPTDGREVVCHASAWDFYNGKDFRIKQCTTVNLEDLVVAHHEMGHIQYFMQYKDLPVALREGANPGFHEAIGDVLALSVSTPKHLHSLNLLSSEGGSDEHDINFLMKMALDKIAFIPFSYLVDQWRWRVFDGSITKENYNQEWWSLRLKYQGLCPPVPRTQGDFDPGAKFHIPSSVPYIRYFVSFIIQFQFHEALCQAAGHTGPLHKCDIYQSKEAGQRLATAMKLGFSRPWPEAMQLITGQPNMSASAMLSYFKPLLDWLRTENELHGEKLGWPQYNWTPNSARSEGPLPDSGRVSFLGLDLDAQQARVGQWLLLFLGIALLVATLGLSQRLFSIRHRSLHRHSHGPQFGSEVELRHS",
"length": 732,
"header": "sp|P12821-3|ACE_HUMAN Isoform 3 of Angiotensin-converting enzyme OS=Homo sapiens OX=9606 GN=ACE PE=1 SV=1 CANONICAL=P12821-1"
},
"locus": {
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{
"database": "Ensembl Transcript",
"id": "ENST00000290863.10",
"url": "https://www.ensembl.org/id/ENST00000290863.10"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000290863.6",
"url": "https://www.ensembl.org/id/ENSP00000290863.6"
}
]
}
},
{
"isoform_ac": "P12821-4",
"url": "",
"sequence": {
"sequence": "MGQGWATAGLPSLLFLLLCYGHPLLVPSQEASQQVTVTHGTSSQATTSSQTTTHQATAHQTSAQSPNLVTDEAEASKFVEEYDRTSQVVWNEYAEANWNYNTNITTETSKILLQKNMQIANHTLKYGTQARKFDVNQLQNTTIKRIIKKVQDLERAALPAQELEEYNKILLDMETTYSVATVCHPNGSCLQLEPDLTNVMATSRKYEDLLWAWEGWRDKAGRAILQFYPKYVELINQAARLNGYVDAGDSWRSMYETPSLEQDLERLFQELQPLYLNLHAYVRRALHRHYGAQHINLEGPIPAHLLGNMWAQTWSNIYDLVVPFPSAPSMDTTEAMLKQGWTPRRMFKEADDFFTSLGLLPVPPEFWNKSMLEKPTDGREVVCHASAWDFYNGKDFRIKQCTTVNLEDLVVAHHEMGHIQYFMQYKDLPVALREGANPGFHEAIGDVLALSVSTPKHLHSLNLLSSEGGSDEHDINFLMKMALDKIAFIPFSYLVDQWRWRVFDGSITKENYNQEWWSLRLKYQGLCPPVPRTQGDFDPGAKFHIPSSVPYIRTAMKLGFSRPWPEAMQLITGQPNMSASAMLSYFKPLLDWLRTENELHGEKLGWPQYNWTPNSARSEGPLPDSGRVSFLGLDLDAQQARVGQWLLLFLGIALLVATLGLSQRLFSIRHRSLHRHSHGPQFGSEVELRHS",
"length": 691,
"header": "sp|P12821-4|ACE_HUMAN Isoform 4 of Angiotensin-converting enzyme OS=Homo sapiens OX=9606 GN=ACE PE=1 SV=1 CANONICAL=P12821-1"
},
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{
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"url": "https://www.ensembl.org/id/ENST00000413513.7"
},
{
"database": "Ensembl Peptide",
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}
]
}
}
],
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{
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"relation": "attached",
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{
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{
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{
"id": "20826823",
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}
]
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{
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{
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}
]
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{
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{
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}
]
},
{
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}
]
},
{
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}
]
},
{
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}
]
},
{
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]
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{
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},
{
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]
},
{
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{
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{
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]
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{
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{
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{
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},
{
"id": "20826823",
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]
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}
]
},
{
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]
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{
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{
"id": "20826823",
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}
]
},
{
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{
"id": "29391424",
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]
},
{
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]
},
{
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{
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},
{
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]
},
{
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]
},
{
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{
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]
},
{
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{
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]
},
{
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]
},
{
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"name": "positive regulation of apoptotic process",
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{
"name": "lung alveolus development",
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],
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{
"name": "amyloid-beta metabolic process",
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{
"name": "cellular response to glucose stimulus",
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],
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{
"name": "response to hypoxia",
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{
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{
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{
"name": "angiotensin maturation",
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{
"name": "regulation of renal output by angiotensin",
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{
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{
"name": "regulation of systemic arterial blood pressure by renin-angiotensin",
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{
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{
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],
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{
"name": "post-transcriptional regulation of gene expression",
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{
"name": "regulation of smooth muscle cell migration",
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],
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{
"name": "regulation of vasoconstriction",
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],
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{
"name": "response to nutrient levels",
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],
"pmid": ""
},
{
"name": "mononuclear cell proliferation",
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],
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{
"name": "hormone catabolic process",
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"id": "P12821",
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],
"pmid": ""
},
{
"name": "eating behavior",
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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042755",
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"id": "P12821",
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],
"pmid": ""
},
{
"name": "peptide catabolic process",
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"id": "P12821",
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],
"pmid": ""
},
{
"name": "regulation of synaptic plasticity",
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"id": "P12821",
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],
"pmid": ""
},
{
"name": "arachidonic acid secretion",
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"id": "P12821",
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],
"pmid": ""
},
{
"name": "heart contraction",
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],
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},
{
"name": "regulation of angiotensin metabolic process",
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],
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{
"name": "hematopoietic stem cell differentiation",
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],
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{
"name": "cell proliferation in bone marrow",
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],
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{
"name": "regulation of heart rate by cardiac conduction",
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],
"pmid": ""
},
{
"name": "regulation of hematopoietic stem cell proliferation",
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],
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{
"name": "negative regulation of gap junction assembly",
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],
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{
"name": "positive regulation of peptidyl-cysteine S-nitrosylation",
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],
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{
"name": "antigen processing and presentation of peptide antigen via MHC class I",
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],
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},
{
"name": "response to laminar fluid shear stress",
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],
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{
"name": "blood vessel diameter maintenance",
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],
"pmid": ""
},
{
"name": "female pregnancy",
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],
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{
"name": "male gonad development",
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],
"pmid": ""
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{
"name": "positive regulation of vasoconstriction",
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],
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},
{
"name": "angiotensin-activated signaling pathway",
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],
"pmid": ""
},
{
"name": "vasoconstriction",
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],
"pmid": ""
},
{
"name": "animal organ regeneration",
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],
"pmid": ""
},
{
"name": "response to thyroid hormone",
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],
"pmid": ""
},
{
"name": "hormone metabolic process",
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],
"pmid": ""
},
{
"name": "response to xenobiotic stimulus",
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],
"pmid": ""
},
{
"name": "cellular response to aldosterone",
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],
"pmid": ""
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{
"name": "bradykinin catabolic process",
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],
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{
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],
"pmid": ""
},
{
"name": "angiogenesis involved in coronary vascular morphogenesis",
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],
"pmid": ""
},
{
"name": "response to dexamethasone",
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],
"pmid": ""
},
{
"name": "substance P catabolic process",
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],
"pmid": ""
},
{
"name": "negative regulation of glucose import",
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],
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},
{
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],
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{
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],
"pmid": ""
},
{
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],
"pmid": ""
},
{
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],
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},
{
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],
"pmid": ""
},
{
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],
"pmid": ""
},
{
"name": "metalloendopeptidase activity",
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],
"pmid": ""
},
{
"name": "calmodulin binding",
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],
"pmid": ""
},
{
"name": "zinc ion binding",
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],
"pmid": ""
},
{
"name": "exopeptidase activity",
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],
"pmid": ""
},
{
"name": "tripeptidyl-peptidase activity",
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"id": "P12821",
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],
"pmid": ""
},
{
"name": "chloride ion binding",
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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031404",
"evidence": [
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"database": "UniProtKB",
"id": "P12821",
"url": "https://www.uniprot.org/uniprot/P12821"
}
],
"pmid": ""
},
{
"name": "mitogen-activated protein kinase kinase binding",
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"id": "P12821",
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],
"pmid": ""
},
{
"name": "bradykinin receptor binding",
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"id": "P12821",
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],
"pmid": ""
},
{
"name": "mitogen-activated protein kinase binding",
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"id": "P12821",
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],
"pmid": ""
},
{
"name": "metallodipeptidase activity",
"id": "GO:0070573",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070573",
"evidence": [
{
"database": "UniProtKB",
"id": "P12821",
"url": "https://www.uniprot.org/uniprot/P12821"
}
],
"pmid": ""
},
{
"name": "peptidase activity",
"id": "GO:0008233",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008233",
"evidence": [
{
"database": "UniProtKB",
"id": "P12821",
"url": "https://www.uniprot.org/uniprot/P12821"
}
],
"pmid": ""
},
{
"name": "heterocyclic compound binding",
"id": "GO:1901363",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901363",
"evidence": [
{
"database": "UniProtKB",
"id": "P12821",
"url": "https://www.uniprot.org/uniprot/P12821"
}
],
"pmid": ""
}
]
},
{
"name": "Cellular Component",
"total": 11,
"go_terms": [
{
"name": "membrane",
"id": "GO:0016020",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020",
"evidence": [
{
"database": "UniProtKB",
"id": "P12821",
"url": "https://www.uniprot.org/uniprot/P12821"
}
],
"pmid": ""
},
{
"name": "extracellular region",
"id": "GO:0005576",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576",
"evidence": [
{
"database": "UniProtKB",
"id": "P12821",
"url": "https://www.uniprot.org/uniprot/P12821"
}
],
"pmid": ""
},
{
"name": "extracellular space",
"id": "GO:0005615",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615",
"evidence": [
{
"database": "UniProtKB",
"id": "P12821",
"url": "https://www.uniprot.org/uniprot/P12821"
}
],
"pmid": ""
},
{
"name": "endosome",
"id": "GO:0005768",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768",
"evidence": [
{
"database": "UniProtKB",
"id": "P12821",
"url": "https://www.uniprot.org/uniprot/P12821"
}
],
"pmid": ""
},
{
"name": "plasma membrane",
"id": "GO:0005886",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886",
"evidence": [
{
"database": "UniProtKB",
"id": "P12821",
"url": "https://www.uniprot.org/uniprot/P12821"
}
],
"pmid": ""
},
{
"name": "extracellular exosome",
"id": "GO:0070062",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062",
"evidence": [
{
"database": "UniProtKB",
"id": "P12821",
"url": "https://www.uniprot.org/uniprot/P12821"
}
],
"pmid": ""
},
{
"name": "lysosome",
"id": "GO:0005764",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764",
"evidence": [
{
"database": "UniProtKB",
"id": "P12821",
"url": "https://www.uniprot.org/uniprot/P12821"
}
],
"pmid": ""
},
{
"name": "external side of plasma membrane",
"id": "GO:0009897",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897",
"evidence": [
{
"database": "UniProtKB",
"id": "P12821",
"url": "https://www.uniprot.org/uniprot/P12821"
}
],
"pmid": ""
},
{
"name": "brush border membrane",
"id": "GO:0031526",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031526",
"evidence": [
{
"database": "UniProtKB",
"id": "P12821",
"url": "https://www.uniprot.org/uniprot/P12821"
}
],
"pmid": ""
},
{
"name": "basal plasma membrane",
"id": "GO:0009925",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009925",
"evidence": [
{
"database": "UniProtKB",
"id": "P12821",
"url": "https://www.uniprot.org/uniprot/P12821"
}
],
"pmid": ""
},
{
"name": "sperm midpiece",
"id": "GO:0097225",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225",
"evidence": [
{
"database": "UniProtKB",
"id": "P12821",
"url": "https://www.uniprot.org/uniprot/P12821"
}
],
"pmid": ""
}
]
}
]
},
"pro_annotation": [
{
"name": "angiotensin-converting enzyme N-glycosylated 1 (human)",
"definition": "An angiotensin-converting enzyme (human) that has been N-glycosylated at the residue equivalent to Asn-714 of the amino acid sequence represented by UniProtKB:P12821-1, in which the glycan composition is represented by GlyTouCan:G02815KT. Example: UniProtKB:P12821-1, Asn-714, MOD:00160~GNO:G02815KT. [PRO:DNx, PMID:26791533]",
"evidence": [
{
"id": "PR:000055028",
"database": "PRO",
"url": "https://proconsortium.org/app/entry/PR:000055028"
}
]
},
{
"name": "angiotensin-converting enzyme N-glycosylated 2 (human)",
"definition": "An angiotensin-converting enzyme (human) that has been N-glycosylated at the residue equivalent to Asn-714 of the amino acid sequence represented by UniProtKB:P12821-1, in which the glycan composition is represented by GlyTouCan:G31852PQ. Example: UniProtKB:P12821-1, Asn-714, MOD:00160~GNO:G31852PQ. [PRO:DNx, PMID:26791533]",
"evidence": [
{
"id": "PR:000055029",
"database": "PRO",
"url": "https://proconsortium.org/app/entry/PR:000055029"
}
]
}
],
"site_annotation": [
{
"start_pos": 111,
"end_pos": 113,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 1191,
"end_pos": 1193,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 1225,
"end_pos": 1227,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 146,
"end_pos": 148,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 160,
"end_pos": 162,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 318,
"end_pos": 320,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 38,
"end_pos": 40,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 445,
"end_pos": 447,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 509,
"end_pos": 511,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 523,
"end_pos": 525,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 54,
"end_pos": 56,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 677,
"end_pos": 679,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 695,
"end_pos": 697,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 714,
"end_pos": 716,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 74,
"end_pos": 76,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 760,
"end_pos": 762,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 942,
"end_pos": 944,
"annotation": "n_glycosylation_sequon"
}
],
"ptm_annotation": [
{
"annotation": "Phosphorylated by CK2 on Ser-1299; which allows membrane retention (PubMed:12386153). Phosphorylated on tyrosine residues on its extracellular part, promoting cleavage by secretase enzymes and formation of the soluble form (Angiotensin-converting enzyme, soluble form) (By similarity).",
"evidence": [
{
"database": "UniProtKB",
"id": "P12821",
"url": "https://www.uniprot.org/uniprot/P12821"
},
{
"database": "PubMed",
"id": "12386153",
"url": "https://glygen.org/publication/PubMed/12386153"
}
]
},
{
"annotation": "Produced following proteolytic cleavage by secretase enzymes that cleave the transmembrane form in the juxtamembrane stalk region upstream of the transmembrane region (PubMed:8253769, PubMed:7499427, PubMed:10769174, PubMed:11274151). Cleavage can take place at different sites of the juxtamembrane stalk region (PubMed:8253769, PubMed:7499427, PubMed:10769174, PubMed:11274151).",
"evidence": [
{
"database": "UniProtKB",
"id": "P12821",
"url": "https://www.uniprot.org/uniprot/P12821"
},
{
"database": "PubMed",
"id": "7499427",
"url": "https://glygen.org/publication/PubMed/7499427"
},
{
"database": "PubMed",
"id": "10769174",
"url": "https://glygen.org/publication/PubMed/10769174"
},
{
"database": "PubMed",
"id": "8253769",
"url": "https://glygen.org/publication/PubMed/8253769"
},
{
"database": "PubMed",
"id": "11274151",
"url": "https://glygen.org/publication/PubMed/11274151"
}
]
}
],
"interactions": [],
"reactions": [
{
"id": "63560",
"name": "",
"equation": "angiotensin I + H2O = angiotensin II + L-histidyl-L-leucine",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P47820-1",
"P12821-1",
"P09470-1"
],
"evidence": [
{
"id": "63560",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/63560"
}
]
},
{
"id": "70675",
"name": "",
"equation": "H2O + Met-enkephalin-Arg-Phe = L-arginyl-L-phenylalanine + Met-enkephalin",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P47820-1",
"P12821-1",
"P09470-1"
],
"evidence": [
{
"id": "70675",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/70675"
}
]
},
{
"id": "71451",
"name": "",
"equation": "bradykinin + H2O = bradykinin(1-7) + L-Phe-L-Arg",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P47820-1",
"P12821-1",
"P09470-1"
],
"evidence": [
{
"id": "71451",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/71451"
}
]
},
{
"id": "71455",
"name": "",
"equation": "goralatide + H2O = L-lysyl-L-proline + N-acetyl-L-seryl-L-aspartate",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P47820-1",
"P12821-1",
"P09470-1"
],
"evidence": [
{
"id": "71455",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/71455"
}
]
},
{
"id": "71459",
"name": "",
"equation": "H2O + substance P = L-Leu-L-Met-NH2 + substance P(1-9)",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P07861-1",
"P47820-1",
"P12821-1",
"P08473-1",
"P09470-1",
"Q61391-1"
],
"evidence": [
{
"id": "71459",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/71459"
}
]
},
{
"id": "71463",
"name": "",
"equation": "H2O + substance P = Gly-L-Leu-L-Met-NH2 + substance P(1-8)",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P47820-1",
"P12821-1",
"P09470-1"
],
"evidence": [
{
"id": "71463",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/71463"
}
]
},
{
"id": "71471",
"name": "",
"equation": "H2O + substance P = L-Phe-L-Phe-Gly-L-Leu-L-Met-NH2 + substance P(1-6)",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P47820-1",
"P12821-1",
"P09470-1"
],
"evidence": [
{
"id": "71471",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/71471"
}
]
},
{
"id": "71475",
"name": "",
"equation": "H2O + neurotensin = L-isoleucyl-L-leucine + neurotensin(1-11)",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P07861-1",
"P47820-1",
"P12821-1",
"P08473-1",
"P09470-1",
"Q61391-1"
],
"evidence": [
{
"id": "71475",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/71475"
}
]
},
{
"id": "71483",
"name": "",
"equation": "H2O + Met-enkephalin = L-phenylalanyl-L-methionine + L-tyrosylglycylglycine",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P47820-1",
"P12821-1",
"P09470-1"
],
"evidence": [
{
"id": "71483",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/71483"
}
]
},
{
"id": "71487",
"name": "",
"equation": "H2O + Leu-enkephalin = L-phenylalanyl-L-leucine + L-tyrosylglycylglycine",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P47820-1",
"P12821-1",
"P09470-1"
],
"evidence": [
{
"id": "71487",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/71487"
}
]
},
{
"id": "R-HSA-2022398",
"name": "ACE hydrolyzes Angiotensin-(1-9) to Angiotensin-(1-7)",
"equation": "",
"summary": "Angiotensin-converting enzyme (ACE) hydrolyzes angiotensin-(1-9) to yield angiotensin-(1-7) (Rice et al. 2004).",
"cellular_location": "extracellular region, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P12821-1"
],
"evidence": [
{
"id": "R-HSA-2022398",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022398"
}
]
},
{
"id": "R-HSA-2022405",
"name": "ACE hydrolyzes Angiotensin-(1-10) to Angiotensin-(1-8)",
"equation": "",
"summary": "Angiotensin-converting enzyme (ACE) hydrolyzes angiotensin-(1-10) (angiotensin I) to yield angiotensin-(1-8) (angiotensin II) (Ehlers and Kirsch 1988). ACE is found at the plasma membrane of endothelial cells. This reaction is inhibited by drugs used to treat hypertension (angiotensin converting enzyme inhibitors, ACEI) including captopril (Gronhagen-Riska and Fyhrquist 1980, Stewart et al. 1981, Ehlers et al. 1986, Hayakari et al. 1989, Wei et al. 1991, Baudin and Beneteau-Burnat 1999), enalaprilat (metablized from the prodrug enalapril, Wei et al. 1991, Baudin and Beneteau-Burnat 1999), lisinopril ( Ehlers et al. 1991, Natesh et al. 2003), and ramiprilat (metabolized from the prodrug ramipril, Baudin and Beneteau-Burnat 1999).",
"cellular_location": "extracellular region, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P12821-1"
],
"evidence": [
{
"id": "R-HSA-2022405",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022405"
}
]
},
{
"id": "R-HSA-2065355",
"name": "Secreted ACE hydrolyzes Angiotensin-(1-10) to Angiotensin-(1-8)",
"equation": "",
"summary": "Secreted angiotensin-converting enzyme (ACE) cleaves 2 amino acid residues from the C-terminus of angiotensin-(1-10) (angiotensin I) to yield angiotensin-(1-8) (angiotensin II) (Wei et al. 1991). This reaction is inhibited by drugs used to treat hypertension (angiotensin converting enzyme inhibitors, ACEI) including captopril (Gronhagen-Riska and Fyhrquist 1980, Stewart et al. 1981, Ehlers et al. 1986, Hayakari et al. 1989, Wei et al. 1991, Baudin and Beneteau-Burnat 1999), enalaprilat (metablized from the prodrug enalapril, Wei et al. 1991, Baudin and Beneteau-Burnat 1999), lisinopril ( Ehlers et al. 1991, Natesh et al. 2003), and ramiprilat (metabolized from the prodrug ramipril, Baudin and Beneteau-Burnat 1999). ACE is secreted (\\shed\\) from membranes of endothelial cells by cleavage in the C-terminal region that removes the membrane anchor.",
"cellular_location": "extracellular region",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P12821-1"
],
"evidence": [
{
"id": "R-HSA-2065355",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2065355"
}
]
},
{
"id": "R-HSA-9614933",
"name": "ACEIs bind ACE",
"equation": "",
"summary": "Angiotensin-converting enzyme (ACE) is a central component of the renin\u2013angiotensin-aldosterone system (RAAS), controlling blood pressure by regulating the fluid volume in the body. It converts the hormone angiotensin I (ATI) to the active vasoconstrictor angiotensin II (ATII). Therefore, ACE indirectly increases blood pressure by causing blood vessels to constrict. ACE inhibitors (ACEIs) block the conversion of ATI to ATII, thereby lowering arteriolar resistance and increasing venous capacity. The first ACEI, captopril, was developed from a peptide found in pit viper venom, used by the indiginous Brazilian tribes as an arrowhead poison (Patlak 2004). ACEIs decrease the production of ATII, which prevents aldosterone release from the adrenal cortex. This allows the kidney to excrete sodium ions along with obligate water, and retain potassium ions. This has the effect of decreasing blood volume, leading to decreased blood pressure (Kono et al. 1979, 1982). ACEIs are widely used as pharmaceutical drugs primarily for the treatment of hypertension (elevated blood pressure) and congestive heart failure (Abrams et al. 1984, Johnston et al. 1984, 1986).
ACEIs can be divided into three groups based on their molecular structure; sulfhydryl-containing agents (captopril, zofenopril), dicarboxylate-containing agents (includes enalapril, ramipril, quinapril, perindopril, lisinopril, benazepril, imidapril, trandolapril, cilizapril and spirapril) and the phosphonate-containing agent fosinopril. Captopril (Capoten), was the first ACE inhibitor developed in 1975 and gaining FDA approval in 1981 (Smith & Vane 2003). Unlike the majority of ACE inhibitors, captopril is not administered as a prodrug (the only other being lisinopril). It is used in the treatment of hypertension and some types of congestive heart failure (Hollenberg 1984, Turini et al. 1983). It is also used to improve survivability after myocardial infarction and to preserve kidney function in diabetic nephropathy. Zofenopril is administered as a prodrug and is metabolized in the liver to the active form zofenoprilat (Jiang et al. 2011, Tian et al. 2015). It is used in the treatment of hypertension and ischemic heart disorders (Nilsson 2007, Ambrosioni 2007).
Enalapril is a prodrug that is metabolized by the liver into the active form enalaprilat (Shioya et al. 1992). It is used to treat hypertension, diabetic nephropathy, and heart failure (Davies et al. 1984, Gomez et al. 1985). Ramipril is an ACE inhibitor (Bunning 1984) which is administered as a prodrug and metabolized by the liver to its active form ramiprilat (Vasmant & Bender 1989). It is used to treat mild to moderate hypertension and congestive heart failure (Frampton & Peters 1995). Quinapril is a second-generation ACE inhibitor, administered as a pro-drug which is converted to its active metabolite, quinaprilat in the liver (Cetnarowski-Cropp 1991). It inhibits plasma ACE activity in studies with healthy volunteers (Sedman & Posvar 1989). Quinapril is used in the treatment of patients with hypertension and congestive heart failure (Plosker & Sorkin 1994). Efficacy is comparable to other ACE inhibitors but with a lower incidence of adverse events or withdrawals than captopril or enalapril (Frank et al. 1990).
Perindopril is an ester prodrug that is metabolized in the liver to its active form perindoprilat. It is used to treat hypertension, heart failure and stable coronary artery disease (Chalmers & MacMahon 2003). Lisinopril was the third ACE inhibitor (after captopril and enalapril) to be approved for clinical use in the treatment of hypertension (Pool et al. 1987) and congestive heart failure (Giles 1989). Chemically, it is the lysine analogue of enalapril. Unlike other ACE inhibitors, it is not a prodrug and is excreted unchanged in the urine (Armayor & Lopez 1988, Noble & Murray 1988). Benazepril is administered as an ester prodrug and metabolized by the liver to its active form benazeprilat (Sioufi et al. 1988). It is used primarily in the treatment of hypertension, congestive heart failure, and heart attacks (Gengo & Brady 1991, Balfour & Goa 1991). Imidapril is an ACE inhibitor (Robinson et al. 2007), administered as a prodrug which is metabolized in the liver to the active form, imidaprilat (Hoogkamer et al. 1997). It is used in the treatment of mild to moderate essential hypertension (Palma-Gamiz et al. 2007) as well as preventing the onset of heart failure in patients after a myocardial infarction (Dolezal 2006).
Trandolapril is a prodrug that is metabolized in the liver to its active form trandolaprilat (Conen & Brunner 1993). Is an ACE inhibitor used to treat hypertension and congestive heart failure (Ducky & Brunner 1992, Diaz & Ducharme 2008). Cilazapril is a prodrug converted to the active drug cilazaprilat in the liver (Deget & Brogden 1991). It is used for the treatment of hypertension and congestive heart failure (Waterfall 1989, Szucs 1991). Cilazapril is branded as Dynorm, Inhibace and Vascace in various countries but is not available in the US. Spirapril is a prodrug metabolized to the active metabolite spiraprilat (Bellissant et al. 1997 ). It is used in the treatment of mild to moderate hypertension, administered once daily due to its long duration of action but with a narrow dose range ((Hayduk & Kraul 1999). Fosinopril is the only member of a phosphinic acid derivative which undergoes rapid hydrolysis mainly in the gastrointestinal mucosa and liver to the active form fosinoprilat (Cur et al. 2007). It is used for the treatment of hypertension and some types of chronic heart failure (Murdoch & McTavish 1992, Davis et al. 1997).
",
"cellular_location": "extracellular region",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P12821-1"
],
"evidence": [
{
"id": "R-HSA-9614933",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9614933"
}
]
}
],
"reaction_participants": [],
"reaction_enzymes": [
{
"uniprot_ac": "P07861",
"gene_name": "Mme",
"activity": [
{
"ec_number": "3.4.24.11",
"activity": "Preferential cleavage of polypeptides between hydrophobic residues, particularly with Phe or Tyr at P1'.",
"evidence": [
{
"id": "P07861",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P07861"
}
]
},
{
"ec_number": "3.4.24.11",
"activity": "",
"evidence": [
{
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