{
"uniprot_canonical_ac": "P06276-1",
"uniprot_ac": "P06276",
"uniprot_id": "CHLE_HUMAN",
"mass": {
"chemical_mass": 68418.0,
"monoisotopic_mass": 68418.0
},
"refseq": {
"ac": "NP_000046",
"name": "cholinesterase precursor",
"summary": "This gene encodes a cholinesterase enzyme and member of the type-B carboxylesterase/lipase family of proteins. The encoded enzyme exhibits broad substrate specificity and is involved in the detoxification of poisons including organophosphate nerve agents and pesticides, and the metabolism of drugs including cocaine, heroin and aspirin. Humans homozygous for certain mutations in this gene exhibit prolonged apnea after administration of the muscle relaxant succinylcholine. [provided by RefSeq, Jul 2016].",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000046"
},
"gene_names": [
{
"name": "BCHE",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/P06276",
"id": "P06276"
},
{
"name": "BCHED; CHE1; CHE2; E1",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000046",
"id": "NP_000046"
},
{
"name": "BCHE",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000046",
"id": "NP_000046"
},
{
"name": "CHE1",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/P06276",
"id": "P06276"
}
],
"protein_names": [
{
"name": "Cholinesterase",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "P06276"
},
{
"name": "3.1.1.8",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P06276"
},
{
"name": "Acylcholine acylhydrolase",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P06276"
},
{
"name": "Butyrylcholine esterase",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P06276"
},
{
"name": "Choline esterase II",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P06276"
},
{
"name": "Pseudocholinesterase",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P06276"
},
{
"name": "cholinesterase 1; choline esterase II; pseudocholinesterase; butyrylcholine esterase; acylcholine acylhydrolase; cholinesterase (serum) 2",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000046",
"id": "NP_000046"
},
{
"name": "cholinesterase precursor",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000046",
"id": "NP_000046"
}
],
"function": [
{
"annotation": "Butyrylcholinesterase signal sequence self-aggregates and enhances amyloid fibril formation in vitro.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000046",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000046"
},
{
"database": "PubMed",
"id": "37884182",
"url": "https://glygen.org/publication/PubMed/37884182"
}
]
},
{
"annotation": "Esterase with broad substrate specificity. Contributes to the inactivation of the neurotransmitter acetylcholine. Can degrade neurotoxic organophosphate esters.",
"evidence": [
{
"database": "UniProtKB",
"id": "P06276",
"url": "https://www.uniprot.org/uniprot/P06276#function"
},
{
"database": "PubMed",
"id": "19452557",
"url": "https://glygen.org/publication/PubMed/19452557"
},
{
"database": "PubMed",
"id": "19542320",
"url": "https://glygen.org/publication/PubMed/19542320"
},
{
"database": "UniProtKB",
"id": "F8WEX7",
"url": "https://www.uniprot.org/uniprot/F8WEX7#function"
},
{
"database": "UniProtKB",
"id": "ARBA00037444",
"url": "https://www.uniprot.org/uniprot/ARBA00037444#function"
},
{
"database": "UniProtKB",
"id": "F8WF14",
"url": "https://www.uniprot.org/uniprot/F8WF14#function"
}
]
},
{
"annotation": "Human Butyrylcholinesterase Mutants for (-)-Cocaine Hydrolysis: A Correlation Relationship between Catalytic Efficiency and Total Hydrogen Bonding Energy with an Oxyanion Hole.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000046",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000046"
},
{
"database": "PubMed",
"id": "38063500",
"url": "https://glygen.org/publication/PubMed/38063500"
}
]
},
{
"annotation": "Improving the Efficiency of Precise Genome Editing with CRISPR/Cas9 to Generate Goats Overexpressing Human Butyrylcholinesterase. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000046",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000046"
},
{
"database": "PubMed",
"id": "37508483",
"url": "https://glygen.org/publication/PubMed/37508483"
}
]
},
{
"annotation": "Serum butyrylcholinesterase as a marker of COVID-19 mortality: Results of the monocentric prospective observational study.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000046",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000046"
},
{
"database": "PubMed",
"id": "37209860",
"url": "https://glygen.org/publication/PubMed/37209860"
}
]
},
{
"annotation": "This gene encodes a cholinesterase enzyme and member of the type-B carboxylesterase/lipase family of proteins. The encoded enzyme exhibits broad substrate specificity and is involved in the detoxification of poisons including organophosphate nerve agents and pesticides, and the metabolism of drugs including cocaine, heroin and aspirin. Humans homozygous for certain mutations in this gene exhibit prolonged apnea after administration of the muscle relaxant succinylcholine. [provided by RefSeq, Jul 2016].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000046",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000046"
}
]
}
],
"disease": [
{
"disease_id": "MONDO:0015270",
"recommended_name": {
"id": "MONDO:0015270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0015270",
"name": "butyrylcholinesterase deficiency",
"description": "Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterized by prolonged apnoea after the use of certain anesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency."
},
"synonyms": [
{
"id": "MONDO:0015270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0015270",
"name": "apnea, postanesthetic, susceptibility to, due to BCHE deficiency",
"description": ""
},
{
"id": "MONDO:0015270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0015270",
"name": "butyrylcholinesterase deficiency",
"description": ""
},
{
"id": "MONDO:0015270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0015270",
"name": "Acholinesterasemia",
"description": ""
},
{
"id": "MONDO:0015270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0015270",
"name": "BCHED",
"description": ""
},
{
"id": "MONDO:0015270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0015270",
"name": "Suxamethonium sensitivity",
"description": ""
},
{
"id": "MONDO:0015270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0015270",
"name": "apnea, postanesthetic",
"description": ""
},
{
"id": "MONDO:0015270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0015270",
"name": "butyrylcholinesterase deficiency, fluoride-resistant, Japanese type",
"description": ""
},
{
"id": "MONDO:0015270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0015270",
"name": "cholinesterase 2 deficiency",
"description": ""
},
{
"id": "MONDO:0015270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0015270",
"name": "hypocholinesterasemia, fluoride-resistant, Japanese type",
"description": ""
},
{
"id": "MONDO:0015270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0015270",
"name": "pseudocholinesterase E1",
"description": ""
},
{
"id": "MONDO:0015270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0015270",
"name": "pseudocholinesterase deficiency",
"description": ""
},
{
"id": "MONDO:0015270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0015270",
"name": "succinylcholine sensitivity",
"description": ""
},
{
"id": "MIM:617936",
"resource": "MIM",
"url": "https://www.omim.org/entry/617936",
"name": "Butyrylcholinesterase deficiency",
"description": "Butyrylcholinesterase deficiency"
}
],
"evidence": [
{
"id": "617936",
"database": "MIM",
"url": "https://www.omim.org/entry/617936"
}
]
}
],
"snv": [
{
"evidence": [
{
"id": "rs1316841309",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1316841309"
},
{
"id": "rs1316841309",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs1316841309#frequency_tab"
}
],
"glycoeffect": [
"n-glyco-sequon-loss"
],
"start_pos": 134,
"end_pos": 134,
"sequence_org": "N",
"sequence_mut": "H",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->HAT).",
"chr_id": "3",
"chr_pos": "165830634",
"ref_nt": "G",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "N134",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "P06276",
"database": "BioMuta",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P06276"
}
],
"glycoeffect": [
"n-glyco-sequon-loss"
],
"start_pos": 134,
"end_pos": 134,
"subjects_tested": "0",
"subjects_positive": "0",
"frequency": "0.0",
"sequence_org": "N",
"sequence_mut": "I",
"comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NAT->IAT).",
"chr_id": "3",
"chr_pos": "165830633",
"ref_nt": "T",
"alt_nt": "A",
"minor_allelic_frequency": "",
"site_lbl": "N134",
"disease": [
{
"disease_id": "DOID:9256",
"recommended_name": {
"id": "DOID:9256",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:9256",
"name": "colorectal cancer",
"description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
},
"synonyms": [
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer",
"description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of colorectum",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, advanced, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer with chromosomal instability, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectum cancer",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectal neoplasm",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectal tumor",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectal tumour",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectum neoplasm",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large bowel neoplasm",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large bowel tumor",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large bowel tumour",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large intestine neoplasm",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large intestine tumor",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large intestine tumour",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of colorectum",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of the large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumor of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumor of large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumor of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumor of the large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumour of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumour of large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumour of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumour of the large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "CRC",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "large intestine cancer",
"description": ""
},
{
"id": "MIM:114500",
"resource": "MIM",
"url": "https://www.omim.org/entry/114500",
"name": "Colorectal cancer",
"description": "Colorectal cancer"
}
]
}
],
"keywords": [
"biomuta",
"somatic",
"cancer",
"disease"
]
},
{
"evidence": [
{
"id": "rs1264403789",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1264403789"
},
{
"id": "rs1264403789",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs1264403789#frequency_tab"
},
{
"id": "rs764588882",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764588882"
},
{
"id": "rs764588882",
"database": "NCI-TCGA",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764588882"
}
],
"glycoeffect": [
"n-glyco-sequon-loss"
],
"start_pos": 134,
"end_pos": 134,
"sequence_org": "N",
"sequence_mut": "K",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->KAT).",
"chr_id": "3",
"chr_pos": "165830632",
"ref_nt": "C",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "N134",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs1221717614",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1221717614"
},
{
"id": "rs1221717614",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs1221717614#frequency_tab"
},
{
"id": "rs1221717614",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs1221717614"
}
],
"glycoeffect": [
"n-glyco-sequon-loss"
],
"start_pos": 134,
"end_pos": 134,
"sequence_org": "N",
"sequence_mut": "S",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->SAT).",
"chr_id": "3",
"chr_pos": "165830633",
"ref_nt": "C",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "N134",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "P06276",
"database": "BioMuta",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P06276"
}
],
"glycoeffect": [
"n-glyco-sequon-loss",
"o-glyco-site-loss"
],
"start_pos": 136,
"end_pos": 136,
"subjects_tested": "0",
"subjects_positive": "0",
"frequency": "0.0",
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"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DYT->NYT).",
"chr_id": "3",
"chr_pos": "165773420",
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},
{
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{
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{
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],
"glycoeffect": [
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"o-glyco-site-loss"
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"start_pos": 87,
"end_pos": 87,
"sequence_org": "T",
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"chr_id": "3",
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],
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{
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"id": "0000082",
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},
{
"tissue": {
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"id": "0000167",
"url": "http://purl.obolibrary.org/obo/UBERON_0000167"
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"score": "43.23",
"present": "LOW",
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{
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"url": "https://bgee.org/?page=gene&gene_id=ENSG00000114200"
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},
{
"tissue": {
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"id": "0000945",
"url": "http://purl.obolibrary.org/obo/UBERON_0000945"
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},
{
"tissue": {
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"score": "80.43",
"present": "HIGH",
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},
{
"tissue": {
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"namespace": "UBERON",
"id": "0001043",
"url": "http://purl.obolibrary.org/obo/UBERON_0001043"
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"score": "91.62",
"present": "HIGH",
"evidence": [
{
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]
},
{
"tissue": {
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"url": "http://purl.obolibrary.org/obo/UBERON_0001052"
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"present": "HIGH",
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},
{
"tissue": {
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"id": "0001155",
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"score": "56.16",
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]
},
{
"tissue": {
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"id": "0001255",
"url": "http://purl.obolibrary.org/obo/UBERON_0001255"
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"score": "75.06",
"present": "MEDIUM",
"evidence": [
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"url": "https://bgee.org/?page=gene&gene_id=ENSG00000114200"
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]
},
{
"tissue": {
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"namespace": "UBERON",
"id": "0002046",
"url": "http://purl.obolibrary.org/obo/UBERON_0002046"
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"score": "63.04",
"present": "MEDIUM",
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"id": "ENSG00000114200",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000114200"
}
]
},
{
"tissue": {
"name": "Lung",
"namespace": "UBERON",
"id": "0002048",
"url": "http://purl.obolibrary.org/obo/UBERON_0002048"
},
"score": "76.89",
"present": "MEDIUM",
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"id": "ENSG00000114200",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000114200"
}
]
},
{
"tissue": {
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"id": "0002107",
"url": "http://purl.obolibrary.org/obo/UBERON_0002107"
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"present": "HIGH",
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"id": "ENSG00000114200",
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}
]
},
{
"tissue": {
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"id": "0002367",
"url": "http://purl.obolibrary.org/obo/UBERON_0002367"
},
"score": "71.29",
"present": "MEDIUM",
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"id": "ENSG00000114200",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000114200"
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]
},
{
"tissue": {
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"id": "0005200",
"url": "http://purl.obolibrary.org/obo/UBERON_0005200"
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"present": "MEDIUM",
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"id": "ENSG00000114200",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000114200"
}
]
}
],
"expression_disease": [
{
"significant": "Yes",
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"name": "Prostate cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10283",
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{
"database": "BioXpress",
"id": "P06276",
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],
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},
"synonyms": [
{
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"name": "NGP - new growth of prostate",
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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": "MONDO:0012597",
"resource": "MONDO",
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},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
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},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
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},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
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},
{
"id": "MONDO:0012741",
"resource": "MONDO",
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},
{
"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",
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"name": "prostate cancer, hereditary, 12",
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},
{
"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",
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}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Stomach cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10534",
"evidence": [
{
"database": "BioXpress",
"id": "P06276",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06276"
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],
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{
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{
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
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},
{
"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",
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},
{
"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",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
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"name": "stomach cancer",
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},
{
"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",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, intestinal",
"description": ""
},
{
"id": "MIM:613659",
"resource": "MIM",
"url": "https://www.omim.org/entry/613659",
"name": "Gastric cancer",
"description": "Gastric cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Urinary bladder cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11054",
"evidence": [
{
"database": "BioXpress",
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"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06276"
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],
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"synonyms": [
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},
{
"id": "DOID:11054",
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"url": "http://disease-ontology.org/term/DOID:11054",
"name": "tumor of the bladder",
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},
{
"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",
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"name": "tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "bladder cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "cancer of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of bladder",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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"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",
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},
{
"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",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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"name": "malignant tumour of urinary bladder",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumor",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
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},
{
"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",
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},
{
"id": "MIM:109800",
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"url": "https://www.omim.org/entry/109800",
"name": "Bladder cancer",
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}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Head and neck cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11934",
"evidence": [
{
"database": "BioXpress",
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"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06276"
}
],
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{
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},
{
"id": "DOID:11934",
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},
{
"id": "DOID:11934",
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},
{
"id": "DOID:11934",
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}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
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"url": "http://disease-ontology.org/term/DOID:1324",
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{
"database": "BioXpress",
"id": "P06276",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06276"
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],
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{
"disease_id": "DOID:1324",
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"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1324",
"name": "lung cancer",
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},
"synonyms": [
{
"id": "MONDO:0012159",
"resource": "MONDO",
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"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "LNCR1",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "LNCR3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "adenocarcinoma of lung, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "LNCR4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "LNCR5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": "A malignant neoplasm involving the lung."
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "cancer of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung neoplasm",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumor",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumour",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "Nonsmall cell lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "alveolar cell carcinoma",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung neoplasm",
"description": ""
},
{
"id": "MIM:211980",
"resource": "MIM",
"url": "https://www.omim.org/entry/211980",
"name": "Lung cancer",
"description": "Lung cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Breast cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1612",
"evidence": [
{
"database": "BioXpress",
"id": "P06276",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06276"
}
],
"disease": [
{
"disease_id": "DOID:1612",
"recommended_name": {
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "breast cancer",
"description": "A thoracic cancer that originates in the mammary gland."
},
"synonyms": [
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "breast tumor",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "malignant neoplasm of breast",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "malignant tumor of the breast",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "mammary cancer",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "mammary tumor",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "primary breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast carcinoma",
"description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma."
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer susceptibility, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, lobular, somatic",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, somatic",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial breast carcinoma",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial cancer of breast",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial cancer of the breast",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast carcinoma",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, familial",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, familial Male",
"description": ""
},
{
"id": "MIM:114480",
"resource": "MIM",
"url": "https://www.omim.org/entry/114480",
"name": "Breast cancer",
"description": "Breast cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Thyroid cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1781",
"evidence": [
{
"database": "BioXpress",
"id": "P06276",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06276"
}
],
"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": "P06276",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06276"
}
],
"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": "down",
"name": "Liver cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:3571",
"evidence": [
{
"database": "BioXpress",
"id": "P06276",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06276"
}
],
"disease": [
{
"disease_id": "DOID:3571",
"recommended_name": {
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "liver cancer",
"description": "A hepatobiliary system cancer that is located_in the liver."
},
"synonyms": [
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "Ca liver - primary",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "Resectable malignant neoplasm of Liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "hepatic cancer",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "hepatic neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant hepato-biliary neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver, primary",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant tumor of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "non-resectable primary hepatic malignant neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "primary liver cancer",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "primary malignant neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "resectable malignant neoplasm of the liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver, not specified as primary or secondary",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Uterine cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:363",
"evidence": [
{
"database": "BioXpress",
"id": "P06276",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06276"
}
],
"disease": [
{
"disease_id": "DOID:363",
"recommended_name": {
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine cancer",
"description": "A female reproductive organ cancer that is located_in the uterus."
},
"synonyms": [
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "CA - cancer of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "Tumour of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterus neoplasm",
"description": ""
}
]
}
]
},
{
"significant": "No",
"trend": "down",
"name": "Esophageal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:5041",
"evidence": [
{
"database": "BioXpress",
"id": "P06276",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06276"
}
],
"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": ""
},
{
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"database": "UniProtKB",
"categories": [
"Protein"
]
}
],
"sequence": {
"sequence": "MHSKVTIICIRFLFWFLLLCMLIGKSHTEDDIIIATKNGKVRGMNLTVFGGTVTAFLGIPYAQPPLGRLRFKKPQSLTKWSDIWNATKYANSCCQNIDQSFPGFHGSEMWNPNTDLSEDCLYLNVWIPAPKPKNATVLIWIYGGGFQTGTSSLHVYDGKFLARVERVIVVSMNYRVGALGFLALPGNPEAPGNMGLFDQQLALQWVQKNIAAFGGNPKSVTLFGESAGAASVSLHLLSPGSHSLFTRAILQSGSFNAPWAVTSLYEARNRTLNLAKLTGCSRENETEIIKCLRNKDPQEILLNEAFVVPYGTPLSVNFGPTVDGDFLTDMPDILLELGQFKKTQILVGVNKDEGTAFLVYGAPGFSKDNNSIITRKEFQEGLKIFFPGVSEFGKESILFHYTDWVDDQRPENYREALGDVVGDYNFICPALEFTKKFSEWGNNAFFYYFEHRSSKLPWPEWMGVMHGYEIEFVFGLPLERRDNYTKAEEILSRSIVKRWANFAKYGNPNETQNNSTSWPVFKSTEQKYLTLNTESTRIMTKLRAQQCRFWTSFFPKVLEMTGNIDEAEWEWKAGFHRWNNYMMDWKNQFNDYTSKKESCVGL",
"length": 602,
"header": "sp|P06276-1|CHLE_HUMAN Isoform 1 of Cholinesterase OS=Homo sapiens OX=9606 GN=BCHE PE=1 SV=1 CANONICAL=P06276-1"
},
"isoforms": [
{
"isoform_ac": "F8WEX7-1",
"url": "",
"sequence": {
"sequence": "MHSKVTIICIRFLFWFLLLCMLIGKSHTEDDIIIATKNGKVRGMNLTVFGGTVTAFLGIPYAQPPLGRLRFKKPQSLTKWSDIWNATKYANSCCQNIDQSFPGFHGSEMWNPNTDLSEDCLYLNVWIPAPKPKNATVLIWIYGGGFQTGTSSLHVYDGKFLARVERVIVVSMNYRVGALGFLALPGNPEAPGNMGLFDQQLALQWVQKNIAAFGGNPKSVTLFGESAGAASVSLHLLSPGSHSLFTRAILQSGSFNAPWAVTSLYEARNRTLNLAKLTGCSRENETEIIKCLRNKDPQEILLNEAFVVPYGTPLSVNFGPTVDGDFLTDMPDILLELGQFKKTQILVGVNKDEGTAFLVYGAPGFSKDNNSIITRKEFQEGLKIFFPGVSEFGKESILFHYTDWVDDQRPENYREALGDVVGDYNFICPALEFTKKFSEWGNNAFFYYFEHRSSKLPWPEWMGVMHGYEIEFVFGLPLERRDNYTKAEEILSRSIVKRWANFAKYGCSSSTILNYVLETEPVVLI",
"length": 525,
"header": "tr|F8WEX7-1|F8WEX7_HUMAN Computationally mapped isoform of Carboxylic ester hydrolase OS=Homo sapiens OX=9606 GN=BCHE PE=1 SV=1 CANONICAL=P06276-1"
},
"locus": {
"chromosome": "3",
"start_pos": 165831033,
"end_pos": 165828012,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000482958.1",
"url": "https://www.ensembl.org/id/ENST00000482958.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000419804.1",
"url": "https://www.ensembl.org/id/ENSP00000419804.1"
}
]
}
},
{
"isoform_ac": "F8WF14-1",
"url": "",
"sequence": {
"sequence": "MHSKVTIICIRFLFWFLLLCMLIGKSHTEDDIIIATKNGKVRGMNLTVFGGTVTAFLGIPYAQPPLGRLRFKKPQSLTKWSDIWNATKYANSCCQNIDQSFPGFHGSEMWNPNTDLSEDCLYLNVWIPAPKPKNATVLIWIYGGGFQTGTSSLHVYDGKFLARVERVIVVSMNYRVGALGFLALPGNPEAPGNMGLFDQQLALQWVQKNIAAFGGNPKSVTLFGESAGAASVSLHLLSPGSHSLFTRAILQSGSFNAPWAVTSLYEARNRTLNLAKLTGCSRENETEIIKCLRNKDPQEILLNEAFVVPYGTPLSVNFGPTVDGDFLTDMPDILLELGQFKKTQILVGVNKDEGTAFLVYGAPGFSKDNNSIITRKEFQEGLKIFFPGVSEFGKESILFHYTDWVDDQRPENYREALGDVVGDYNFICPALEFTKKFSEWGNNAFFYYFEHRSSKLPWPEWMGVMHGYEIEFVFGLPLERRDNYTKAEEILSRSIVKRWANFAKYGNPNETQNNSTSWPVFKSTEQKYLTLNTESTRIMTKLRAQQCRFWTSFFPKVLEMTG",
"length": 562,
"header": "tr|F8WF14-1|F8WF14_HUMAN Computationally mapped isoform of Carboxylic ester hydrolase OS=Homo sapiens OX=9606 GN=BCHE PE=1 SV=1 CANONICAL=P06276-1"
},
"locus": {
"chromosome": "3",
"start_pos": 165831033,
"end_pos": 165777794,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000497011.5",
"url": "https://www.ensembl.org/id/ENST00000497011.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000419505.1",
"url": "https://www.ensembl.org/id/ENSP00000419505.1"
}
]
}
},
{
"isoform_ac": "H0Y885-1",
"url": "",
"sequence": {
"sequence": "AVQFTGWSSSCILHFPEVLHDFHSLQTLPSLLQRIGNPNETQNNSTSWPVFKSTEQKYLTLNTESTRIMTKLRAQQCRFWTSFFPKVLEMTGNIDEAEWEWKAGFHRWNNYMMDWKNQFNDYTSKKESCVGL",
"length": 132,
"header": "tr|H0Y885-1|H0Y885_HUMAN Computationally mapped isoform of Butyrylcholinesterase OS=Homo sapiens OX=9606 GN=BCHE PE=1 SV=1 CANONICAL=P06276-1"
},
"locus": {
"chromosome": "3",
"start_pos": 165837420,
"end_pos": 165773385,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000479451.5",
"url": "https://www.ensembl.org/id/ENST00000479451.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000418325.1",
"url": "https://www.ensembl.org/id/ENSP00000418325.1"
}
]
}
},
{
"isoform_ac": "H7C4Y0-1",
"url": "",
"sequence": {
"sequence": "AVQFTGWSSSCILHFPEVLHDFHSLQTLPSLLQRIGNPNETQNNSTSWPVFKSTEQKYLTLNTESTRIMTKLRAQQCRFWTSFFPKVLEMTEPICCYCEPGTALAARAAQMKMTGSAYSQ",
"length": 120,
"header": "tr|H7C4Y0-1|H7C4Y0_HUMAN Computationally mapped isoform of Butyrylcholinesterase OS=Homo sapiens OX=9606 GN=BCHE PE=1 SV=1 CANONICAL=P06276-1"
},
"locus": {
"chromosome": "3",
"start_pos": 165837420,
"end_pos": 165778653,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000488954.1",
"url": "https://www.ensembl.org/id/ENST00000488954.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000418504.1",
"url": "https://www.ensembl.org/id/ENSP00000418504.1"
}
]
}
},
{
"isoform_ac": "P06276-1",
"url": "",
"sequence": {
"sequence": "MHSKVTIICIRFLFWFLLLCMLIGKSHTEDDIIIATKNGKVRGMNLTVFGGTVTAFLGIPYAQPPLGRLRFKKPQSLTKWSDIWNATKYANSCCQNIDQSFPGFHGSEMWNPNTDLSEDCLYLNVWIPAPKPKNATVLIWIYGGGFQTGTSSLHVYDGKFLARVERVIVVSMNYRVGALGFLALPGNPEAPGNMGLFDQQLALQWVQKNIAAFGGNPKSVTLFGESAGAASVSLHLLSPGSHSLFTRAILQSGSFNAPWAVTSLYEARNRTLNLAKLTGCSRENETEIIKCLRNKDPQEILLNEAFVVPYGTPLSVNFGPTVDGDFLTDMPDILLELGQFKKTQILVGVNKDEGTAFLVYGAPGFSKDNNSIITRKEFQEGLKIFFPGVSEFGKESILFHYTDWVDDQRPENYREALGDVVGDYNFICPALEFTKKFSEWGNNAFFYYFEHRSSKLPWPEWMGVMHGYEIEFVFGLPLERRDNYTKAEEILSRSIVKRWANFAKYGNPNETQNNSTSWPVFKSTEQKYLTLNTESTRIMTKLRAQQCRFWTSFFPKVLEMTGNIDEAEWEWKAGFHRWNNYMMDWKNQFNDYTSKKESCVGL",
"length": 602,
"header": "sp|P06276-1|CHLE_HUMAN Isoform 1 of Cholinesterase OS=Homo sapiens OX=9606 GN=BCHE PE=1 SV=1 CANONICAL=P06276-1"
},
"locus": {
"chromosome": "3",
"start_pos": 165831033,
"end_pos": 165773385,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000264381.8",
"url": "https://www.ensembl.org/id/ENST00000264381.8"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000264381.3",
"url": "https://www.ensembl.org/id/ENSP00000264381.3"
}
]
}
}
],
"glycosylation": [
{
"glytoucan_ac": "",
"type": "N-linked",
"subtype": "Complex",
"site_category": "reported",
"site_seq": "N",
"relation": "attached",
"comment": "N-linked (GlcNAc...) (complex) asparagine Complex",
"start_pos": 134,
"start_aa": "Asn",
"end_pos": 134,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn134",
"evidence": [
{
"id": "P06276",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P06276#ptm_processing"
},
{
"id": "19159218",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/19159218"
},
{
"id": "18203274",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/18203274"
},
{
"id": "15667209",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/15667209"
},
{
"id": "17355286",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/17355286"
},
{
"id": "18975951",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/18975951"
},
{
"id": "19368529",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/19368529"
},
{
"id": "12869558",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/12869558"
},
{
"id": "17768338",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/17768338"
},
{
"id": "23679855",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/23679855"
},
{
"id": "1P0I",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/1P0I"
},
{
"id": "1P0M",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/1P0M"
},
{
"id": "1P0P",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/1P0P"
},
{
"id": "1P0Q",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/1P0Q"
},
{
"id": "1XLU",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/1XLU"
},
{
"id": "1XLV",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/1XLV"
},
{
"id": "1XLW",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/1XLW"
},
{
"id": "2J4C",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/2J4C"
},
{
"id": "2PM8",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/2PM8"
},
{
"id": "2WID",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/2WID"
},
{
"id": "2WIF",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/2WIF"
},
{
"id": "2WIG",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/2WIG"
},
{
"id": "2WIJ",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/2WIJ"
},
{
"id": "2WIK",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/2WIK"
},
{
"id": "2WIL",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/2WIL"
},
{
"id": "2WSL",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/2WSL"
},
{
"id": "2XMB",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/2XMB"
},
{
"id": "2XMC",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/2XMC"
},
{
"id": "2XMD",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/2XMD"
},
{
"id": "2XMG",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/2XMG"
},
{
"id": "3DJY",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/3DJY"
},
{
"id": "3DKK",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/3DKK"
},
{
"id": "4B0O",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/4B0O"
},
{
"id": "4B0P",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/4B0P"
},
{
"id": "4BBZ",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/4BBZ"
},
{
"id": "4BDS",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/4BDS"
},
{
"id": "4XII",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/4XII"
},
{
"id": "5K5E",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/5K5E"
},
{
"id": "5LKR",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/5LKR"
},
{
"id": "5NN0",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/5NN0"
},
{
"id": "6EP4",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/6EP4"
},
{
"id": "6EQP",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/6EQP"
},
{
"id": "6EQQ",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/6EQQ"
},
{
"id": "6ESJ",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/6ESJ"
},
{
"id": "6ESY",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/6ESY"
},
{
"id": "6F7Q",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/6F7Q"
}
]
},
{
"glytoucan_ac": "",
"type": "N-linked",
"subtype": "",
"site_category": "reported",
"site_seq": "N",
"relation": "attached",
"comment": "",
"start_pos": 256,
"start_aa": "Asn",
"end_pos": 256,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn256",
"evidence": [
{
"id": "4TPK",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/4TPK"
}
]
},
{
"glytoucan_ac": "",
"type": "N-linked",
"subtype": "Complex",
"site_category": "reported",
"site_seq": "N",
"relation": "attached",
"comment": "N-linked (GlcNAc...) (complex) asparagine Complex",
"start_pos": 269,
"start_aa": "Asn",
"end_pos": 269,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn269",
"evidence": [
{
"id": "P06276",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P06276#ptm_processing"
},
{
"id": "18203274",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/18203274"
},
{
"id": "15667209",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/15667209"
},
{
"id": "17355286",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/17355286"
},
{
"id": "19368529",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/19368529"
},
{
"id": "12869558",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/12869558"
},
{
"id": "23679855",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/23679855"
},
{
"id": "1P0I",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/1P0I"
},
{
"id": "1P0M",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/1P0M"
},
{
"id": "1P0P",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/1P0P"
},
{
"id": "1P0Q",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/1P0Q"
},
{
"id": "1XLU",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/1XLU"
},
{
"id": "1XLV",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/1XLV"
},
{
"id": "1XLW",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/1XLW"
},
{
"id": "2J4C",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/2J4C"
},
{
"id": "2WID",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/2WID"
},
{
"id": "2WIF",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/2WIF"
},
{
"id": "2WIG",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/2WIG"
},
{
"id": "2WIJ",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/2WIJ"
},
{
"id": "2WIK",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/2WIK"
},
{
"id": "2WIL",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/2WIL"
},
{
"id": "2WSL",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/2WSL"
},
{
"id": "2XMB",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/2XMB"
},
{
"id": "2XMC",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/2XMC"
},
{
"id": "2XMD",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/2XMD"
},
{
"id": "2XMG",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/2XMG"
},
{
"id": "3DJY",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/3DJY"
},
{
"id": "3DKK",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/3DKK"
},
{
"id": "4B0O",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/4B0O"
},
{
"id": "4B0P",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/4B0P"
},
{
"id": "4BDS",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/4BDS"
},
{
"id": "4XII",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/4XII"
},
{
"id": "5K5E",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/5K5E"
},
{
"id": "5LKR",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/5LKR"
},
{
"id": "5NN0",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/5NN0"
},
{
"id": "6EP4",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/6EP4"
},
{
"id": "6EQP",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/6EQP"
},
{
"id": "6EQQ",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/6EQQ"
},
{
"id": "6ESJ",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/6ESJ"
},
{
"id": "6ESY",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/6ESY"
},
{
"id": "6F7Q",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/6F7Q"
}
]
},
{
"glytoucan_ac": "G22310AV",
"type": "N-linked",
"subtype": "",
"site_category": "reported_with_glycan",
"site_seq": "N",
"relation": "attached",
"comment": "",
"start_pos": 284,
"start_aa": "Asn",
"end_pos": 284,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn284",
"evidence": [
{
"id": "1109",
"database": "GlyConnect",
"url": "https://glyconnect.expasy.org/browser/proteins/1109"
},
{
"id": "29391424",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/29391424"
}
]
},
{
"glytoucan_ac": "G31852PQ",
"type": "N-linked",
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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": "2WID",
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{
"id": "2WIF",
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{
"id": "2WIG",
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{
"id": "2WIJ",
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{
"id": "2WIK",
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{
"id": "2WIL",
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{
"id": "2WSL",
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{
"id": "2XMB",
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{
"id": "2XMC",
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{
"id": "2XMD",
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{
"id": "2XMG",
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{
"id": "3DJY",
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{
"id": "3DKK",
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{
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{
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"title": "Identification of separate acyl- CoA:glycine and acyl-CoA:L-glutamine N-acyltransferase activities in mitochondrial fractions from liver of rhesus monkey and man.",
"journal": "The Journal of biological chemistry",
"date": "1976",
"authors": "Webster LT, Siddiqui UA, Lucas SV, Strong JM, Mieyal JJ",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-9749641",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9749641"
}
],
"reference": [
{
"type": "PubMed",
"id": "931988",
"url": "https://glygen.org/publication/PubMed/931988"
}
]
},
{
"title": "Human butyrylcholinesterase L330I mutation belongs to a fluoride-resistant gene, by expression in human fetal kidney cells.",
"journal": "Biochemical and biophysical research communications",
"date": "1997",
"authors": "Sudo K, Maekawa M, Akizuki S, Magara T, Ogasawara H, Tanaka T",
"evidence": [
{
"database": "UniProtKB",
"id": "P06276",
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}
],
"reference": [
{
"type": "PubMed",
"id": "9388484",
"url": "https://glygen.org/publication/PubMed/9388484"
}
]
},
{
"title": "Genetic analysis of a Japanese patient with butyrylcholinesterase deficiency.",
"journal": "Annals of human genetics",
"date": "1997",
"authors": "Hidaka K, Iuchi I, Tomita M, Watanabe Y, Minatogawa Y, Iwasaki K, Gotoh K, Shimizu C",
"evidence": [
{
"database": "UniProtKB",
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}
],
"reference": [
{
"type": "PubMed",
"id": "9543549",
"url": "https://glygen.org/publication/PubMed/9543549"
}
]
},
{
"title": "Cloning and characterization of a second human CTP:phosphocholine cytidylyltransferase.",
"journal": "The Journal of biological chemistry",
"date": "1998",
"authors": "Lykidis A, Murti KG, Jackowski S",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-1483191",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1483191"
}
],
"reference": [
{
"type": "PubMed",
"id": "9593753",
"url": "https://glygen.org/publication/PubMed/9593753"
}
]
},
{
"title": "Identification of multispecific organic anion transporter 2 expressed predominantly in the liver.",
"journal": "FEBS letters",
"date": "1998",
"authors": "Sekine T, Cha SH, Tsuda M, Apiwattanakul N, Nakajima N, Kanai Y, Endou H",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-9749641",
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}
],
"reference": [
{
"type": "PubMed",
"id": "9650585",
"url": "https://glygen.org/publication/PubMed/9650585"
}
]
},
{
"title": "Identification of a point mutation associated with a silent phenotype of human serum butyrylcholinesterase--a case of familial cholinesterasemia.",
"journal": "Clinica chimica acta; international journal of clinical chemistry",
"date": "1998",
"authors": "Sakamoto N, Hidaka K, Fujisawa T, Maeda M, Iuchi I",
"evidence": [
{
"database": "UniProtKB",
"id": "P06276",
"url": "https://www.uniprot.org/uniprot/P06276"
}
],
"reference": [
{
"type": "PubMed",
"id": "9694584",
"url": "https://glygen.org/publication/PubMed/9694584"
}
]
},
{
"title": "Protein binding of salicylate in uremic and normal plasma.",
"journal": "Clinical pharmacology and therapeutics",
"date": "1976",
"authors": "Borga O, Cederlof IO, Ringberger VA, Norlin A",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-9749641",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9749641"
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],
"reference": [
{
"type": "PubMed",
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"url": "https://glygen.org/publication/PubMed/975718"
}
]
}
],
"pathway": [
{
"id": "hsa:590",
"name": "",
"url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:590",
"resource": "KEGG Pathway"
},
{
"id": "R-HSA-112311",
"name": "Neurotransmitter clearance",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-112311",
"resource": "Reactome",
"description": "Neurotransmitter clearance"
},
{
"id": "R-HSA-1483191",
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"resource": "Reactome",
"description": "Synthesis of PC"
},
{
"id": "R-HSA-422085",
"name": "Synthesis, secretion, and deacylation of Ghrelin",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422085",
"resource": "Reactome",
"description": "Synthesis, secretion, and deacylation of Ghrelin"
},
{
"id": "R-HSA-9749641",
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"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9749641",
"resource": "Reactome",
"description": "Aspirin ADME"
}
],
"orthologs": [
{
"uniprot_canonical_ac": "A0A8J8XQI9-1",
"protein_name": "Carboxylic ester hydrolase",
"gene_name": "Bche",
"tax_id": 10116,
"organism": "Rattus norvegicus",
"sequence": {
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"length": 603
},
"evidence": [
{
"id": "P06276",
"url": "https://omabrowser.org/oma/group/P06276/",
"database": "OMA"
}
],
"common_name": "Rat"
},
{
"uniprot_canonical_ac": "Q03311-1",
"protein_name": "Cholinesterase",
"gene_name": "Bche",
"tax_id": 10090,
"organism": "Mus musculus",
"sequence": {
"sequence": "MQTQHTKVTQTHFLLWILLLCMPFGKSHTEEDFIITTKTGRVRGLSMPVLGGTVTAFLGIPYAQPPLGSLRFKKPQPLNKWPDIHNATQYANSCYQNIDQAFPGFQGSEMWNPNTNLSEDCLYLNVWIPVPKPKNATVMVWIYGGGFQTGTSSLPVYDGKFLARVERVIVVSMNYRVGALGFLAFPGNPDAPGNMGLFDQQLALQWVQRNIAAFGGNPKSITIFGESAGAASVSLHLLCPQSYPLFTRAILESGSSNAPWAVKHPEEARNRTLTLAKFTGCSKENEMEMIKCLRSKDPQEILRNERFVLPSDSILSINFGPTVDGDFLTDMPHTLLQLGKVKKAQILVGVNKDEGTAFLVYGAPGFSKDNDSLITRKEFQEGLNMYFPGVSRLGKEAVLFYYVDWLGEQSPEVYRDALDDVIGDYNIICPALEFTKKFAELENNAFFYFFEHRSSKLPWPEWMGVMHGYEIEFVFGLPLGRRVNYTRAEEIFSRSIMKTWANFAKYGHPNGTQGNSTMWPVFTSTEQKYLTLNTEKSKIYSKLRAPQCQFWRLFFPKVLEMTGDIDETEQEWKAGFHRWSNYMMDWQNQFNDYTSKKESCTAL",
"length": 603
},
"evidence": [
{
"id": "45932977",
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"database": "MGI"
},
{
"id": "P06276",
"url": "https://omabrowser.org/oma/group/P06276/",
"database": "OMA"
}
],
"common_name": "Mouse"
}
],
"go_annotation": {
"categories": [
{
"name": "Biological Process",
"total": 12,
"go_terms": [
{
"name": "neuroblast differentiation",
"id": "GO:0014016",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014016",
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{
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"id": "P06276",
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}
],
"pmid": ""
},
{
"name": "choline metabolic process",
"id": "GO:0019695",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019695",
"evidence": [
{
"database": "UniProtKB",
"id": "P06276",
"url": "https://www.uniprot.org/uniprot/P06276"
}
],
"pmid": ""
},
{
"name": "response to alkaloid",
"id": "GO:0043279",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043279",
"evidence": [
{
"database": "UniProtKB",
"id": "P06276",
"url": "https://www.uniprot.org/uniprot/P06276"
}
],
"pmid": ""
},
{
"name": "cocaine metabolic process",
"id": "GO:0050783",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050783",
"evidence": [
{
"database": "UniProtKB",
"id": "P06276",
"url": "https://www.uniprot.org/uniprot/P06276"
}
],
"pmid": ""
},
{
"name": "learning",
"id": "GO:0007612",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007612",
"evidence": [
{
"database": "UniProtKB",
"id": "P06276",
"url": "https://www.uniprot.org/uniprot/P06276"
}
],
"pmid": ""
},
{
"name": "negative regulation of cell population proliferation",
"id": "GO:0008285",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285",
"evidence": [
{
"database": "UniProtKB",
"id": "P06276",
"url": "https://www.uniprot.org/uniprot/P06276"
}
],
"pmid": ""
},
{
"name": "peptide hormone processing",
"id": "GO:0016486",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016486",
"evidence": [
{
"database": "UniProtKB",
"id": "P06276",
"url": "https://www.uniprot.org/uniprot/P06276"
}
],
"pmid": ""
},
{
"name": "response to glucocorticoid",
"id": "GO:0051384",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051384",
"evidence": [
{
"database": "UniProtKB",
"id": "P06276",
"url": "https://www.uniprot.org/uniprot/P06276"
}
],
"pmid": ""
},
{
"name": "acetylcholine catabolic process",
"id": "GO:0006581",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006581",
"evidence": [
{
"database": "UniProtKB",
"id": "P06276",
"url": "https://www.uniprot.org/uniprot/P06276"
}
],
"pmid": ""
},
{
"name": "xenobiotic metabolic process",
"id": "GO:0006805",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006805",
"evidence": [
{
"database": "UniProtKB",
"id": "P06276",
"url": "https://www.uniprot.org/uniprot/P06276"
}
],
"pmid": ""
},
{
"name": "negative regulation of synaptic transmission",
"id": "GO:0050805",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050805",
"evidence": [
{
"database": "UniProtKB",
"id": "P06276",
"url": "https://www.uniprot.org/uniprot/P06276"
}
],
"pmid": ""
},
{
"name": "response to folic acid",
"id": "GO:0051593",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051593",
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"id": "P06276",
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}
],
"pmid": ""
}
]
},
{
"name": "Molecular Function",
"total": 8,
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{
"name": "choline binding",
"id": "GO:0033265",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033265",
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{
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"id": "P06276",
"url": "https://www.uniprot.org/uniprot/P06276"
}
],
"pmid": ""
},
{
"name": "hydrolase activity, acting on ester bonds",
"id": "GO:0016788",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016788",
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"id": "P06276",
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}
],
"pmid": ""
},
{
"name": "enzyme binding",
"id": "GO:0019899",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899",
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{
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"id": "P06276",
"url": "https://www.uniprot.org/uniprot/P06276"
}
],
"pmid": ""
},
{
"name": "identical protein binding",
"id": "GO:0042802",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802",
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"id": "P06276",
"url": "https://www.uniprot.org/uniprot/P06276"
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],
"pmid": ""
},
{
"name": "amyloid-beta binding",
"id": "GO:0001540",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001540",
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"id": "P06276",
"url": "https://www.uniprot.org/uniprot/P06276"
}
],
"pmid": ""
},
{
"name": "catalytic activity",
"id": "GO:0003824",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003824",
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"id": "P06276",
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}
],
"pmid": ""
},
{
"name": "acetylcholinesterase activity",
"id": "GO:0003990",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003990",
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"database": "UniProtKB",
"id": "P06276",
"url": "https://www.uniprot.org/uniprot/P06276"
}
],
"pmid": ""
},
{
"name": "cholinesterase activity",
"id": "GO:0004104",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004104",
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"id": "P06276",
"url": "https://www.uniprot.org/uniprot/P06276"
}
],
"pmid": ""
}
]
},
{
"name": "Cellular Component",
"total": 6,
"go_terms": [
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"name": "extracellular region",
"id": "GO:0005576",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576",
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"id": "P06276",
"url": "https://www.uniprot.org/uniprot/P06276"
}
],
"pmid": ""
},
{
"name": "extracellular space",
"id": "GO:0005615",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615",
"evidence": [
{
"database": "UniProtKB",
"id": "P06276",
"url": "https://www.uniprot.org/uniprot/P06276"
}
],
"pmid": ""
},
{
"name": "nuclear envelope lumen",
"id": "GO:0005641",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005641",
"evidence": [
{
"database": "UniProtKB",
"id": "P06276",
"url": "https://www.uniprot.org/uniprot/P06276"
}
],
"pmid": ""
},
{
"name": "endoplasmic reticulum lumen",
"id": "GO:0005788",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005788",
"evidence": [
{
"database": "UniProtKB",
"id": "P06276",
"url": "https://www.uniprot.org/uniprot/P06276"
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],
"pmid": ""
},
{
"name": "plasma membrane",
"id": "GO:0005886",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886",
"evidence": [
{
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"id": "P06276",
"url": "https://www.uniprot.org/uniprot/P06276"
}
],
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},
{
"name": "blood microparticle",
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"evidence": [
{
"database": "UniProtKB",
"id": "P06276",
"url": "https://www.uniprot.org/uniprot/P06276"
}
],
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}
]
}
]
},
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{
"start_pos": 134,
"end_pos": 136,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 269,
"end_pos": 271,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 284,
"end_pos": 286,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 369,
"end_pos": 371,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 45,
"end_pos": 47,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 483,
"end_pos": 485,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 509,
"end_pos": 511,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 513,
"end_pos": 515,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 514,
"end_pos": 516,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 85,
"end_pos": 87,
"annotation": "n_glycosylation_sequon"
}
],
"ptm_annotation": [
{
"annotation": "N-glycosylated. No other PTM detected (PubMed:20946535). The major N-glycan structures are of the complex diantennary type with 1 and 2 N-acetylneuraminic acid molecules (Neu5Ac) making up approximately 33% and 47% of the total N-glycans, respectively. Only low amounts of fucosylated diantennary N-glycans are detected (approximately 2%). Triantennary N-glycans with or without fucose amount to approximately 13%, whereas 5% of the total N-glycans are of the oligomannosidic or hybrid type.",
"evidence": [
{
"database": "UniProtKB",
"id": "P06276",
"url": "https://www.uniprot.org/uniprot/P06276"
},
{
"database": "PubMed",
"id": "19159218",
"url": "https://glygen.org/publication/PubMed/19159218"
},
{
"database": "PubMed",
"id": "14760718",
"url": "https://glygen.org/publication/PubMed/14760718"
},
{
"database": "PubMed",
"id": "16335952",
"url": "https://glygen.org/publication/PubMed/16335952"
},
{
"database": "PubMed",
"id": "18203274",
"url": "https://glygen.org/publication/PubMed/18203274"
},
{
"database": "PubMed",
"id": "15667209",
"url": "https://glygen.org/publication/PubMed/15667209"
},
{
"database": "PubMed",
"id": "20946535",
"url": "https://glygen.org/publication/PubMed/20946535"
},
{
"database": "PubMed",
"id": "17355286",
"url": "https://glygen.org/publication/PubMed/17355286"
},
{
"database": "PubMed",
"id": "18975951",
"url": "https://glygen.org/publication/PubMed/18975951"
},
{
"database": "PubMed",
"id": "19139490",
"url": "https://glygen.org/publication/PubMed/19139490"
},
{
"database": "PubMed",
"id": "19368529",
"url": "https://glygen.org/publication/PubMed/19368529"
},
{
"database": "PubMed",
"id": "12869558",
"url": "https://glygen.org/publication/PubMed/12869558"
},
{
"database": "PubMed",
"id": "17768338",
"url": "https://glygen.org/publication/PubMed/17768338"
}
]
}
],
"interactions": [],
"reactions": [
{
"id": "21964",
"name": "",
"equation": "an acylcholine + H2O = a carboxylate + choline + H(+)",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"A0A8J8XQI9-1",
"P06276-1",
"Q03311-1"
],
"evidence": [
{
"id": "21964",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/21964"
}
]
},
{
"id": "R-HSA-372519",
"name": "AcCho is hydrolyzed to Cho and acetate by ACHE",
"equation": "",
"summary": "Acetylcholinesterase (ACHE) oligomers (comprising monomers, dimers and tetramers), anchored to the extracellular side of the plasma membrane, hydrolyze acetylcholine (AcCho) to form choline (Cho) and acetate (Weinstock & Groner 2008, Velan et al. 1991, Kryger et al. 2000).
Acetylcholine from the synaptic cleft is degraded into inactive molecules, Cho and acetate by ACHE, which is located in the synaptic cleft (Weinstock & Groner 2008).",
"cellular_location": "extracellular region, plasma membrane",
"input_participant_list": [
"R-ALL-372533"
],
"output_participant_list": [
"R-ALL-1524044"
],
"enzyme_list": [
"P06276-1",
"P22303-1"
],
"evidence": [
{
"id": "R-HSA-372519",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-372519"
}
]
},
{
"id": "R-HSA-9023617",
"name": "Butyrylcholinesterase hydrolyzes acyl Ghrelin",
"equation": "",
"summary": "The majority of circulating ghrelin is not acylated (des-acyl ghrelin). Acyl ghrelin can be deacylated in the bloodstream by butyrylcholinesterase and platelet-activating factor acetylhydrolase, which are associated with circulating lipids. Other enzymes may also have this capability. It is unknown if a portion of des-acyl ghrelin in the bloodstream is generated by direct synthesis and secretion.",
"cellular_location": "extracellular region",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P06276-1",
"P22303-1"
],
"evidence": [
{
"id": "R-HSA-9023617",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9023617"
}
]
},
{
"id": "R-HSA-9749609",
"name": "BCHE hydrolyzes ASA-",
"equation": "",
"summary": "Acetylsalicylate (ASA-) is hydrolyzed by two plasma esterases. About 80% of aspirin esterase activity in the blood is due to the erythrocyte enzyme butyrylcholine esterase (pseudocholinesterase, BCHE). BCHE hydrolyzes acetylsalicylate (ASA-), producing acetate and salicylate (Rainsford et al, 1980; Costello & Green, 1983).",
"cellular_location": "extracellular region",
"input_participant_list": [
"R-ALL-9749598"
],
"output_participant_list": [],
"enzyme_list": [
"P06276-1"
],
"evidence": [
{
"id": "R-HSA-9749609",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9749609"
}
]
}
],
"reaction_participants": [
{
"participant_id": "R-ALL-1524044",
"participant_name": "acetate [extracellular region]",
"crossref": [
{
"id": "30089",
"database": "ChEBI",
"url": ""
},
{
"id": "30089",
"database": "ChEBI",
"url": ""
},
{
"id": "30089",
"database": "ChEBI",
"url": ""
},
{
"id": "30089",
"database": "ChEBI",
"url": ""
},
{
"id": "30089",
"database": "ChEBI",
"url": ""
},
{
"id": "30089",
"database": "ChEBI",
"url": ""
}
]
},
{
"participant_id": "R-ALL-372533",
"participant_name": "AcCho [extracellular region]",
"crossref": [
{
"id": "000003079336",
"database": "ZINC",
"url": ""
},
{
"id": "15355",
"database": "ChEBI",
"url": ""
},
{
"id": "294",
"database": "Guide to Pharmacology - Ligands",
"url": ""
},
{
"id": "HMDB0000895",
"database": "HMDB Metabolite",
"url": ""
},
{
"id": "15355",
"database": "ChEBI",
"url": ""
},
{
"id": "294",
"database": "Guide to Pharmacology - Ligands",
"url": ""
},
{
"id": "000003079336",
"database": "ZINC",
"url": ""
},
{
"id": "HMDB0000895",
"database": "HMDB Metabolite",
"url": ""
},
{
"id": "15355",
"database": "ChEBI",
"url": ""
},
{
"id": "000003079336",
"database": "ZINC",
"url": ""
},
{
"id": "HMDB0000895",
"database": "HMDB Metabolite",
"url": ""
},
{
"id": "294",
"database": "Guide to Pharmacology - Ligands",
"url": ""
},
{
"id": "294",
"database": "Guide to Pharmacology - Ligands",
"url": ""
},
{
"id": "HMDB0000895",
"database": "HMDB Metabolite",
"url": ""
},
{
"id": "15355",
"database": "ChEBI",
"url": ""
},
{
"id": "000003079336",
"database": "ZINC",
"url": ""
}
]
},
{
"participant_id": "R-ALL-9749598",
"participant_name": "ASA- [extracellular region]",
"crossref": [
{
"id": "000000000053",
"database": "ZINC",
"url": ""
},
{
"id": "13719",
"database": "ChEBI",
"url": ""
},
{
"id": "13719",
"database": "ChEBI",
"url": ""
},
{
"id": "000000000053",
"database": "ZINC",
"url": ""
},
{
"id": "13719",
"database": "ChEBI",
"url": ""
},
{
"id": "000000000053",
"database": "ZINC",
"url": ""
},
{
"id": "000000000053",
"database": "ZINC",
"url": ""
},
{
"id": "13719",
"database": "ChEBI",
"url": ""
},
{
"id": "13719",
"database": "ChEBI",
"url": ""
},
{
"id": "000000000053",
"database": "ZINC",
"url": ""
}
]
}
],
"reaction_enzymes": [
{
"uniprot_ac": "A0A8J8XQI9",
"gene_name": "Bche",
"activity": [
{
"ec_number": "3.1.1.-",
"activity": "",
"evidence": [
{
"id": "A0A8J8XQI9",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A8J8XQI9"
}
]
}
]
},
{
"uniprot_ac": "P06276",
"gene_name": "BCHE",
"activity": [
{
"ec_number": "3.1.1.-",
"activity": "",
"evidence": [
{
"id": "P06276",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P06276"
}
]
},
{
"ec_number": "3.1.1.8",
"activity": "an acylcholine + H2O = a carboxylate + choline + H(+).",
"evidence": [
{
"id": "P06276",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P06276"
}
]
},
{
"ec_number": "3.1.1.8",
"activity": "",
"evidence": [
{
"id": "P06276",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P06276"
}
]
}
]
},
{
"uniprot_ac": "P22303",
"gene_name": "ACHE",
"activity": [
{
"ec_number": "3.1.1.-",
"activity": "",
"evidence": [
{
"id": "P22303",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P22303"
}
]
},
{
"ec_number": "3.1.1.7",
"activity": "acetylcholine + H2O = acetate + choline + H(+).",
"evidence": [
{
"id": "P22303",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P22303"
}
]
},
{
"ec_number": "3.1.1.7",
"activity": "",
"evidence": [
{
"id": "P22303",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P22303"
}
]
}
]
},
{
"uniprot_ac": "Q03311",
"gene_name": "Bche",
"activity": [
{
"ec_number": "3.1.1.8",
"activity": "an acylcholine + H2O = a carboxylate + choline + H(+).",
"evidence": [
{
"id": "Q03311",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q03311"
}
]
},
{
"ec_number": "3.1.1.8",
"activity": "",
"evidence": [
{
"id": "Q03311",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q03311"
}
]
}
]
}
],
"biomarkers": [
{
"assessed_biomarker_entity": "Cholinesterase (BCHE)",
"biomarker_id": "A0051",
"evidence": [
{
"id": "GLY_000625",
"database": "GlyGen",
"url": "https://data.glygen.org/GLY_000625"
},
{
"id": "32505227",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/32505227"
},
{
"id": "30711999",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/30711999"
},
{
"id": "16233931",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/16233931"
}
],
"instances": [
{
"best_biomarker_type": "monitoring",
"status": "increased BCHE level",
"disease": {
"disease_id": "DOID:0080600",
"recommended_name": {
"id": "DOID:0080600",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0080600",
"name": "COVID-19",
"description": "A Coronavirus infection that is characterized by fever, cough and shortness of breath and that has_material_basis_in SARS-CoV-2."
},
"synonyms": [
{
"id": "DOID:0080600",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0080600",
"name": "2019 Novel Coronavirus (2019-nCoV)",
"description": ""
},
{
"id": "DOID:0080600",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0080600",
"name": "2019-nCoV infection",
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},
{
"id": "DOID:0080600",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0080600",
"name": "Wuhan coronavirus infection",
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},
{
"id": "DOID:0080600",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0080600",
"name": "Wuhan seafood market pneumonia virus infection",
"description": ""
},
{
"id": "DOID:0080600",
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"url": "http://disease-ontology.org/term/DOID:0080600",
"name": "COVID19",
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},
{
"id": "DOID:0080600",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0080600",
"name": "SARS-CoV-2 infection",
"description": ""
}
]
},
"tissue": {
"name": "blood",
"namespace": "UBERON",
"id": "0000178",
"url": "http://purl.obolibrary.org/obo/UBERON_0000178"
},
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{
"id": "GLY_000625",
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"url": "https://data.glygen.org/GLY_000625"
},
{
"id": "10.1101/2020.03.19.20034447",
"database": "DOI",
"url": "https://glygen.org/publication/DOI/10.1101/2020.03.19.20034447"
},
{
"id": "32505227",
"database": "PubMed",
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]
},
{
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"id": "DOID:9256",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:9256",
"name": "colorectal cancer",
"description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
},
"synonyms": [
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer",
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},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of colorectum",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of large bowel",
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},
{
"id": "MONDO:0005575",
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"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of large intestine",
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},
{
"id": "MONDO:0005575",
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"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of the large bowel",
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},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, advanced, somatic",
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},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer",
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},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer with chromosomal instability, somatic",
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},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer, autosomal dominant, somatic mutation",
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},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer, somatic",
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},
{
"id": "MONDO:0005575",
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"name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
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},
{
"id": "MONDO:0005575",
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"name": "colorectum cancer",
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},
{
"id": "MONDO:0005575",
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"name": "malignant colorectal neoplasm",
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},
{
"id": "MONDO:0005575",
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"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectal tumor",
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},
{
"id": "MONDO:0005575",
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"name": "malignant colorectal tumour",
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},
{
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"name": "malignant colorectum neoplasm",
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},
{
"id": "MONDO:0005575",
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},
{
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"name": "malignant large bowel tumor",
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},
{
"id": "MONDO:0005575",
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"name": "malignant large bowel tumour",
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},
{
"id": "MONDO:0005575",
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"name": "malignant large intestine neoplasm",
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},
{
"id": "MONDO:0005575",
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"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large intestine tumor",
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},
{
"id": "MONDO:0005575",
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"name": "malignant large intestine tumour",
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},
{
"id": "MONDO:0005575",
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"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of colorectum",
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},
{
"id": "MONDO:0005575",
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"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of large bowel",
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},
{
"id": "MONDO:0005575",
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"name": "malignant neoplasm of large intestine",
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},
{
"id": "MONDO:0005575",
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"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of the large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumor of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumor of large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumor of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumor of the large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumour of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumour of large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumour of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumour of the large intestine",
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},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "CRC",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0005575",
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"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "large intestine cancer",
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},
{
"id": "MIM:114500",
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"url": "https://www.omim.org/entry/114500",
"name": "Colorectal cancer",
"description": "Colorectal cancer"
}
]
},
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"url": "http://purl.obolibrary.org/obo/UBERON_0000178"
},
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{
"id": "GLY_000625",
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},
{
"id": "30711999",
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}
]
},
{
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"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:9351",
"name": "diabetes mellitus",
"description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both."
},
"synonyms": [
{
"id": "DOID:9351",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:9351",
"name": "diabetes",
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}
]
},
"tissue": {
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"id": "0000178",
"url": "http://purl.obolibrary.org/obo/UBERON_0000178"
},
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{
"id": "GLY_000625",
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},
{
"id": "16233931",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/16233931"
}
]
}
]
}
],
"synthesized_glycans": [],
"cluster_types": [
{
"name": "isoformset.uniprotkb",
"label": "Isoforms"
},
{
"name": "homologset.oma",
"label": "OMA Homologs"
},
{
"name": "homologset.mgi",
"label": "MGI Homologs"
}
],
"sequence_features": {
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45,
85,
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],
"glycation_sites": [],
"phosphorylation_sites": [
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],
"sequon_annotation_sites": [
{
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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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}
]
},
"section_stats": [
{
"table_id": "glycosylation",
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