{
"uniprot_canonical_ac": "O75173-1",
"uniprot_ac": "O75173",
"uniprot_id": "ATS4_HUMAN",
"mass": {
"chemical_mass": 90197.0,
"monoisotopic_mass": 90197.0
},
"refseq": {
"ac": "NP_001307265",
"name": "A disintegrin and metalloproteinase with thrombospondin motifs 4 isoform 2 precursor",
"summary": "This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of this family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene lacks a C-terminal TS motif. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease is responsible for the degradation of aggrecan, a major proteoglycan of cartilage, and brevican, a brain-specific extracellular matrix protein. The expression of this gene is upregulated in arthritic disease and this may contribute to disease progression through the degradation of aggrecan. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016].",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307265"
},
"gene_names": [
{
"name": "ADAMTS4",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/O75173",
"id": "O75173"
},
{
"name": "ADAMTS-2; ADAMTS-4; ADMP-1",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307265",
"id": "NP_001307265"
},
{
"name": "ADAMTS4",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307265",
"id": "NP_001307265"
},
{
"name": "KIAA0688",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/O75173",
"id": "O75173"
},
{
"name": "PRO1563",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/O75173",
"id": "O75173"
}
],
"protein_names": [
{
"name": "A disintegrin and metalloproteinase with thrombospondin motifs 4",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "O75173"
},
{
"name": "3.4.24.82",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O75173"
},
{
"name": "A disintegrin and metalloproteinase with thrombospondin motifs 4 isoform 2 precursor",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307265",
"id": "NP_001307265"
},
{
"name": "ADAM-TS 4",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O75173"
},
{
"name": "ADAM-TS4",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O75173"
},
{
"name": "ADAMTS-4",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O75173"
},
{
"name": "ADMP-1",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O75173"
},
{
"name": "Aggrecanase-1",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O75173"
},
{
"name": "aggrecanase-1; a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4; a disintegrin and metalloproteinase with thrombospondin motifs 4; ADAM-TS4; ADAM-TS 4; epididymis secretory sperm binding protein",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307265",
"id": "NP_001307265"
}
],
"function": [
{
"annotation": "ADAMTS-4_v1 is expressed as a protein in vivo in human osteoarthritis synovium, functions as an aggrecanase, and cleaves other proteoglycan substrates.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001307265",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307265"
},
{
"database": "PubMed",
"id": "23897278",
"url": "https://glygen.org/publication/PubMed/23897278"
}
]
},
{
"annotation": "ADAMTS4 is involved in the production of the Alzheimer disease amyloid biomarker APP669-711.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001307265",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307265"
},
{
"database": "PubMed",
"id": "36721026",
"url": "https://glygen.org/publication/PubMed/36721026"
}
]
},
{
"annotation": "Analysis of osteoarthritic synovium using primers designed to amplify across the exon 8/9 junction resulted in amplification of the expected product and a smaller product missing 161 bp from the 5' end of exon 9, the result of alternative splicing",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001307265",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307265"
},
{
"database": "PubMed",
"id": "16723216",
"url": "https://glygen.org/publication/PubMed/16723216"
}
]
},
{
"annotation": "Cleaves aggrecan, a cartilage proteoglycan, and may be involved in its turnover. May play an important role in the destruction of aggrecan in arthritic diseases. Could also be a critical factor in the exacerbation of neurodegeneration in Alzheimer disease. Cleaves aggrecan at the '392-Glu-|-Ala-393' site.",
"evidence": [
{
"database": "UniProtKB",
"id": "O75173",
"url": "https://www.uniprot.org/uniprot/O75173#function"
}
]
},
{
"annotation": "Identification of Adamts4 as a novel adult cardiac injury biomarker with therapeutic implications in patients with cardiac injuries. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001307265",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307265"
},
{
"database": "PubMed",
"id": "35701493",
"url": "https://glygen.org/publication/PubMed/35701493"
}
]
},
{
"annotation": "Oxidized LDL-mediated upregulation of ADAMTS-4 in monocytes/macrophages involves ROS-NF-kappaB-SIRT-1 pathway. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001307265",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307265"
},
{
"database": "PubMed",
"id": "37216221",
"url": "https://glygen.org/publication/PubMed/37216221"
}
]
},
{
"annotation": "This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of this family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene lacks a C-terminal TS motif. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease is responsible for the degradation of aggrecan, a major proteoglycan of cartilage, and brevican, a brain-specific extracellular matrix protein. The expression of this gene is upregulated in arthritic disease and this may contribute to disease progression through the degradation of aggrecan. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001307265",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307265"
}
]
}
],
"disease": [],
"snv": [
{
"evidence": [
{
"id": "O75173",
"database": "BioMuta",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75173"
}
],
"glycoeffect": [],
"start_pos": 259,
"end_pos": 259,
"subjects_tested": "0",
"subjects_positive": "0",
"frequency": "0.0",
"sequence_org": "R",
"sequence_mut": "C",
"comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).",
"chr_id": "1",
"chr_pos": "161196739",
"ref_nt": "G",
"alt_nt": "A",
"minor_allelic_frequency": "",
"site_lbl": "R259",
"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": ""
}
]
},
{
"disease_id": "DOID:4362",
"recommended_name": {
"id": "DOID:4362",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:4362",
"name": "cervical cancer",
"description": "A female reproductive organ cancer that is located_in the cervix."
},
"synonyms": [
{
"id": "DOID:4362",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:4362",
"name": "cervical neoplasm",
"description": ""
},
{
"id": "DOID:4362",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:4362",
"name": "cervix cancer",
"description": ""
},
{
"id": "DOID:4362",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:4362",
"name": "cervix uteri cancer",
"description": ""
},
{
"id": "DOID:4362",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:4362",
"name": "neoplasm of uterine cervix",
"description": ""
},
{
"id": "DOID:4362",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:4362",
"name": "tumor of the Cervix Uteri",
"description": ""
},
{
"id": "DOID:4362",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:4362",
"name": "uterine cervical neoplasm",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "cervical cancer",
"description": "A primary or metastatic malignant neoplasm involving the cervix."
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "cervical neoplasm",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "tumor of the cervix uteri",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "tumour of the cervix uteri",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "uterine cervical neoplasm",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "cancer of uterine cervix",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "cervical cancer, somatic",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "cervix cancer",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "cervix uteri cancer",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "malignant cervical neoplasm",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "malignant cervical tumor",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "malignant cervical tumour",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "malignant cervix neoplasm",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "malignant cervix tumor",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "malignant cervix tumour",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "malignant cervix uteri neoplasm",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "malignant cervix uteri tumor",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "malignant cervix uteri tumour",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "malignant neoplasm of cervix",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "malignant neoplasm of cervix uteri",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "malignant neoplasm of the cervix",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "malignant neoplasm of the cervix uteri",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "malignant neoplasm of the uterine cervix",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "malignant neoplasm of uterine cervix",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "malignant tumor of cervix",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "malignant tumor of cervix uteri",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "malignant tumor of the cervix",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "malignant tumor of the cervix uteri",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "malignant tumor of the uterine cervix",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "malignant tumor of uterine cervix",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "malignant tumour of cervix",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "malignant tumour of cervix uteri",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "malignant tumour of the cervix",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "malignant tumour of the cervix uteri",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "malignant tumour of the uterine cervix",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "malignant tumour of uterine cervix",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "malignant uterine cervix neoplasm",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "malignant uterine cervix tumor",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "malignant uterine cervix tumour",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "uterine cervix cancer",
"description": ""
},
{
"id": "MIM:603956",
"resource": "MIM",
"url": "https://www.omim.org/entry/603956",
"name": "Cervical cancer",
"description": "Cervical cancer"
}
]
},
{
"disease_id": "DOID:10534",
"recommended_name": {
"id": "DOID:10534",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10534",
"name": "stomach cancer",
"description": "A gastrointestinal system cancer that is located_in the stomach."
},
"synonyms": [
{
"id": "DOID:10534",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10534",
"name": "gastric cancer",
"description": ""
},
{
"id": "DOID:10534",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10534",
"name": "gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
"description": "A primary or metastatic malignant neoplasm involving the stomach."
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "Ca lesser curvature - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "cancer of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer risk after h. pylori infection",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric tumor",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric tumour",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
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"name": "prostate cancer, hereditary, 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, type 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "HPC9",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, 12",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene."
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "EHBP1 familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "familial prostate cancer caused by mutation in EHBP1",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, 12",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, type 12",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "HPC12",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, type 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "HPC5",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, type 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, susceptibility to, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "HPC3",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, type 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, susceptibility to, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "HPC4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, on chromosome 7",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene."
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "MSMB familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "familial prostate cancer caused by mutation in MSMB",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, type 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "HPC13",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, type 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "HPC8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "predisposing for prostate cancer",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, type 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "HPC6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "HPC10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate carcinoma",
"description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma."
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate carcinoma",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, somatic",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, hereditary",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "HPC7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer aggressiveness",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene."
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "RNASEL familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "familial prostate cancer caused by mutation in RNASEL",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, type 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "HPC1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "Prca1",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "HPC11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "HPC14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "HPC15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "HPCX1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer susceptibility, X-linked",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "HPCX2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MIM:611868",
"resource": "MIM",
"url": "https://www.omim.org/entry/611868",
"name": "Prostate cancer, hereditary, 12",
"description": "Prostate cancer, hereditary, 12"
},
{
"id": "MIM:611928",
"resource": "MIM",
"url": "https://www.omim.org/entry/611928",
"name": "Prostate cancer, hereditary, 13",
"description": "Prostate cancer, hereditary, 13"
},
{
"id": "MIM:176807",
"resource": "MIM",
"url": "https://www.omim.org/entry/176807",
"name": "Prostate cancer",
"description": "Prostate cancer"
},
{
"id": "MIM:601518",
"resource": "MIM",
"url": "https://www.omim.org/entry/601518",
"name": "Prostate cancer, hereditary, 1",
"description": "Prostate cancer, hereditary, 1"
},
{
"id": "MIM:611955",
"resource": "MIM",
"url": "https://www.omim.org/entry/611955",
"name": "Prostate cancer, hereditary, 11",
"description": "Prostate cancer, hereditary, 11"
}
]
}
]
},
{
"significant": "No",
"trend": "down",
"name": "Stomach cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10534",
"evidence": [
{
"database": "BioXpress",
"id": "O75173",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75173"
}
],
"disease": [
{
"disease_id": "DOID:10534",
"recommended_name": {
"id": "DOID:10534",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10534",
"name": "stomach cancer",
"description": "A gastrointestinal system cancer that is located_in the stomach."
},
"synonyms": [
{
"id": "DOID:10534",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10534",
"name": "gastric cancer",
"description": ""
},
{
"id": "DOID:10534",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10534",
"name": "gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
"description": "A primary or metastatic malignant neoplasm involving the stomach."
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "Ca lesser curvature - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "cancer of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer risk after h. pylori infection",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric tumor",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric tumour",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant stomach neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of greater curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of greater curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "stomach cancer",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "Ca body - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "ca greater curvature of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, intestinal",
"description": ""
},
{
"id": "MIM:613659",
"resource": "MIM",
"url": "https://www.omim.org/entry/613659",
"name": "Gastric cancer",
"description": "Gastric cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Urinary bladder cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11054",
"evidence": [
{
"database": "BioXpress",
"id": "O75173",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75173"
}
],
"disease": [
{
"disease_id": "DOID:11054",
"recommended_name": {
"id": "DOID:11054",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11054",
"name": "urinary bladder cancer",
"description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder."
},
"synonyms": [
{
"id": "DOID:11054",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11054",
"name": "bladder cancer",
"description": ""
},
{
"id": "DOID:11054",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11054",
"name": "tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
"description": "A primary or metastatic malignant neoplasm involving the bladder."
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "bladder cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "cancer of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor, urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumour",
"description": ""
},
{
"id": "MIM:109800",
"resource": "MIM",
"url": "https://www.omim.org/entry/109800",
"name": "Bladder cancer",
"description": "Bladder cancer"
}
]
}
]
},
{
"significant": "No",
"trend": "up",
"name": "Head and neck cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11934",
"evidence": [
{
"database": "BioXpress",
"id": "O75173",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75173"
}
],
"disease": [
{
"disease_id": "DOID:11934",
"recommended_name": {
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck cancer",
"description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx."
},
"synonyms": [
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck tumours",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
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"name": "head/neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "tumor of head and neck",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Lung cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1324",
"evidence": [
{
"database": "BioXpress",
"id": "O75173",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75173"
}
],
"disease": [
{
"disease_id": "DOID:1324",
"recommended_name": {
"id": "DOID:1324",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1324",
"name": "lung cancer",
"description": "A respiratory system cancer that is located_in the lung."
},
"synonyms": [
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "LNCR1",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "LNCR3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "adenocarcinoma of lung, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "LNCR4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "LNCR5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": "A malignant neoplasm involving the lung."
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "cancer of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung neoplasm",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumor",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumour",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "Nonsmall cell lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "alveolar cell carcinoma",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung neoplasm",
"description": ""
},
{
"id": "MIM:211980",
"resource": "MIM",
"url": "https://www.omim.org/entry/211980",
"name": "Lung cancer",
"description": "Lung cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Breast cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1612",
"evidence": [
{
"database": "BioXpress",
"id": "O75173",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75173"
}
],
"disease": [
{
"disease_id": "DOID:1612",
"recommended_name": {
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"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": [
{
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"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",
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"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": "No",
"trend": "down",
"name": "Thyroid cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1781",
"evidence": [
{
"database": "BioXpress",
"id": "O75173",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75173"
}
],
"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": "O75173",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75173"
}
],
"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": "O75173",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75173"
}
],
"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": "O75173",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75173"
}
],
"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": "O75173",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75173"
}
],
"disease": [
{
"disease_id": "DOID:5041",
"recommended_name": {
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophageal cancer",
"description": "A gastrointestinal system cancer that is located_in the esophagus."
},
"synonyms": [
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca lower third oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca middle third oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophagus cancer",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of distal third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of lower third of oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of middle third of oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of proximal third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of upper third esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of Distal Third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of Proximal Third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of abdominal esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of the middle Third of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer",
"description": "A primary or metastatic malignant neoplasm involving the esophagus."
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "cancer of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "cancer of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal squamous cell carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophagus cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal tumor",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal tumour",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus tumor",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
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"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant oesophagus neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant oesophagus tumour",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
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},
{
"id": "MONDO:0007576",
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"name": "malignant tumour of oesophagus",
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},
{
"id": "MONDO:0007576",
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"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "oesophagus cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca lower third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
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"name": "Ca lower third oesophagus",
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},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca middle third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca middle third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of distal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of distal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of lower third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of lower third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of middle third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of middle third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of proximal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of proximal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of upper third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of upper third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of abdominal esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of distal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of proximal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
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"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of the middle third of the esophagus",
"description": ""
},
{
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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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"header": "sp|O75173-2|ATS4_HUMAN Isoform 2 of A disintegrin and metalloproteinase with thrombospondin motifs 4 OS=Homo sapiens OX=9606 GN=ADAMTS4 PE=1 SV=3 CANONICAL=O75173-1"
},
"locus": {}
},
{
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"sequence": {
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"length": 339,
"header": "tr|Q5VTW1-1|Q5VTW1_HUMAN Computationally mapped isoform of ADAM metallopeptidase with thrombospondin type 1 motif 4 OS=Homo sapiens OX=9606 GN=ADAMTS4 PE=1 SV=1 CANONICAL=O75173-1"
},
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"end_pos": 161196497,
"strand": "+",
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{
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"id": "ENSP00000356974.3",
"url": "https://www.ensembl.org/id/ENSP00000356974.3"
}
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}
}
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{
"glytoucan_ac": "",
"type": "N-linked",
"subtype": "",
"site_category": "reported",
"site_seq": "N",
"relation": "attached",
"comment": "N-linked (GlcNAc...) asparagine",
"start_pos": 68,
"start_aa": "Asn",
"end_pos": 68,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn68",
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"url": "https://www.uniprot.org/uniprot/O75173#ptm_processing"
},
{
"id": "23090970",
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"url": "https://glygen.org/publication/PubMed/23090970"
},
{
"id": "GLY_000143",
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"url": "https://data.glygen.org/GLY_000143"
},
{
"id": "24190977",
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"url": "https://glygen.org/publication/PubMed/24190977"
}
]
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{
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"type": "O-linked",
"subtype": "",
"site_category": "reported_with_glycan",
"site_seq": "T",
"relation": "attached",
"comment": "",
"start_pos": 813,
"start_aa": "Thr",
"end_pos": 813,
"end_aa": "Thr",
"residue": "Thr",
"site_lbl": "Thr813",
"evidence": [
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"url": ""
},
{
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"url": "https://glygen.org/publication/PubMed/30459171"
}
]
},
{
"glytoucan_ac": "G43417UB",
"type": "O-linked",
"subtype": "",
"site_category": "reported_with_glycan",
"site_seq": "T",
"relation": "attached",
"comment": "",
"start_pos": 813,
"start_aa": "Thr",
"end_pos": 813,
"end_aa": "Thr",
"residue": "Thr",
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}
],
"phosphorylation": [
{
"start_pos": 782,
"end_pos": 782,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Thr",
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{
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"id": "32387766",
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"site_lbl": "Thr782"
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"glycoprotein",
"glycoprotein_reported_with_glycan",
"glycoprotein_reported"
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"title": "Fibrillin degradation by matrix metalloproteinases: implications for connective tissue remodelling.",
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"authors": "Ashworth JL, Murphy G, Rock MJ, Sherratt MJ, Shapiro SD, Shuttleworth CA, Kielty CM",
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{
"title": "Fibrillin degradation by matrix metalloproteinases: identification of amino- and carboxy-terminal cleavage sites.",
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{
"title": "EMMPRIN (CD147), an inducer of matrix metalloproteinase synthesis, also binds interstitial collagenase to the tumor cell surface.",
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"title": "Biochemical characterization of the catalytic domain of human matrix metalloproteinase 19. Evidence for a role as a potent basement membrane degrading enzyme.",
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"title": "Brevican is degraded by matrix metalloproteinases and aggrecanase-1 (ADAMTS4) at different sites.",
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"id": "36721026",
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{
"title": "Oxidized LDL-mediated upregulation of ADAMTS-4 in monocytes/macrophages involves ROS-NF-\u03baB-SIRT-1 pathway.",
"journal": "Physiology international",
"date": "2023-05-22",
"authors": "Aswani Sukumaran Sreedevi, Mohan Mithra Sudha, Aparna Nandakumaran Sakunthala, Boban Puthenpura Thankappan, Saja Kamalamma",
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]
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{
"title": "Characterization of the binding domains in the fragments cleaved by cathepsin G from human plasma fibronectin.",
"journal": "European journal of biochemistry",
"date": "1982",
"authors": "Vartio T",
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{
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"type": "PubMed",
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]
},
{
"title": "Release of biological activities from quiescent fibronectin by a conformational change and limited proteolysis by matrix metalloproteinases.",
"journal": "Biochemistry",
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"authors": "Fukai F, Ohtaki M, Fujii N, Yajima H, Ishii T, Nishizawa Y, Miyazaki K, Katayama T",
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},
{
"title": "Cloning and characterization of a unique elastolytic metalloproteinase produced by human alveolar macrophages.",
"journal": "The Journal of biological chemistry",
"date": "1993",
"authors": "Shapiro SD, Kobayashi DK, Ley TJ",
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{
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},
{
"title": "The degradation of human endothelial cell-derived perlecan and release of bound basic fibroblast growth factor by stromelysin, collagenase, plasmin, and heparanases.",
"journal": "The Journal of biological chemistry",
"date": "1996",
"authors": "Whitelock JM, Murdoch AD, Iozzo RV, Underwood PA",
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{
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"type": "PubMed",
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},
{
"title": "The role of the C-terminal domain of human collagenase-3 (MMP-13) in the activation of procollagenase-3, substrate specificity, and tissue inhibitor of metalloproteinase interaction.",
"journal": "The Journal of biological chemistry",
"date": "1997",
"authors": "Knauper V, Cowell S, Smith B, Lopez-Otin C, O'Shea M, Morris H, Zardi L, Murphy G",
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{
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"type": "PubMed",
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},
{
"title": "Hydrolysis of a broad spectrum of extracellular matrix proteins by human macrophage elastase.",
"journal": "The Journal of biological chemistry",
"date": "1997",
"authors": "Gronski TJ Jr, Martin RL, Kobayashi DK, Walsh BC, Holman MC, Huber M, Van Wart HE, Shapiro SD",
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{
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"type": "PubMed",
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},
{
"title": "Degradation of decorin by matrix metalloproteinases: identification of the cleavage sites, kinetic analyses and transforming growth factor-beta1 release.",
"journal": "The Biochemical journal",
"date": "1997",
"authors": "Imai K, Hiramatsu A, Fukushima D, Pierschbacher MD, Okada Y",
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},
{
"title": "Membrane-type matrix metalloproteinases 1 and 2 exhibit broad-spectrum proteolytic capacities comparable to many matrix metalloproteinases.",
"journal": "European journal of biochemistry",
"date": "1997",
"authors": "d'Ortho MP, Will H, Atkinson S, Butler G, Messent A, Gavrilovic J, Smith B, Timpl R, Zardi L, Murphy G",
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{
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]
},
{
"title": "Human HtrA, an evolutionarily conserved serine protease identified as a differentially expressed gene product in osteoarthritic cartilage.",
"journal": "The Journal of biological chemistry",
"date": "1998",
"authors": "Hu SI, Carozza M, Klein M, Nantermet P, Luk D, Crowl RM",
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{
"database": "Reactome",
"id": "R-HSA-1474228",
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{
"type": "PubMed",
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}
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"pathway": [
{
"id": "hsa:9507",
"name": "",
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"resource": "KEGG Pathway"
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{
"id": "R-HSA-1474228",
"name": "Degradation of the extracellular matrix",
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"resource": "Reactome",
"description": "Degradation of the extracellular matrix"
},
{
"id": "R-HSA-5083635",
"name": "Defective B3GALTL causes PpS",
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"resource": "Reactome",
"description": "Defective B3GALTL causes PpS"
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{
"id": "R-HSA-5173214",
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"resource": "Reactome",
"description": "O-glycosylation of TSR domain-containing proteins"
}
],
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{
"uniprot_canonical_ac": "F1S1A7-1",
"protein_name": "A disintegrin and metalloproteinase with thrombospondin motifs 4",
"gene_name": "ADAMTS4",
"tax_id": 9823,
"organism": "Sus scrofa",
"sequence": {
"sequence": "MSPSPQAAERSFPKPGRGGLGAQTASVPPSCSTSAMSRTDSHPGRGLAGCWRWGSQPRLLLPTVPISRLLWLLLLLLASLLPSAWPASPLPREEEIVFPEKLNGSVFPGLGAPARLLYRLPAFGEVLLLELEQDPGVRVEGLTVQYLGQAPELLGGAEPGTYLTGTINGDPESVASLHWDGGSLLGVLQYRGTELHIQPLEGGTPNSAGGPGAHILRRKSPASGQGPMCNVKAPPGNLSSSPRRAKRFASLSRFVETLVVADDKMVAFHGAGLKRYLLTVMAAAAKAFKHPSIRNPVNLVVTRLVILGPGEEGPQVGPSAAQTLRSFCAWQRGLNTPKDSDPDHFDTAILFTRQDLCGVSTCDTLGMADVGTVCDPARSCAIVEDDGLQSAFTAAHELGHVFNMLHDNSKPCVGLNGPGGTSRHVMAPVMAHVDPEEPWSPCSARFITDFLDNGYGHCLLDKPEAPLHLPVTFPGKDYDADRQCQLTFGPDSRHCPQLPPPCAALWCSGHLNGHTMCQTKHSPWADGTPCGPSQACMGGRCLHVDQLQDFNIPQAGGWGPWGSWGDCSRSCGGGVQFSSRDCTRPIPRNGGKYCEGRRTRFRSCNTQDCPTGSALTFREEQCAAYNHRTDLFKNFPGPMDWVPRYTGVAPRDQCKLTCQARALGYYYVLEPRVVDGTPCSPDSSSVCVQGRCIHAGCDRVIGSKKKFDKCMVCGGDGSSCSKQSGSFKKFRYGYNDVVTIPAGATHILVRQQGTQGPRSLYLALKLPDGSYALNGEYTLIPSATDVVLPGAVSLRYSGATAASETLSGHGPLAQPLTLQVLVAGNPQNTRLRYSFFVPRPAPSTPRSTPRDWLQRKAQILEILRRRSWAGRK",
"length": 872
},
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{
"id": "O75173",
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}
],
"common_name": "Pig"
},
{
"uniprot_canonical_ac": "Q8BNJ2-1",
"protein_name": "A disintegrin and metalloproteinase with thrombospondin motifs 4",
"gene_name": "Adamts4",
"tax_id": 10090,
"organism": "Mus musculus",
"sequence": {
"sequence": "MSQMGLHPRRGLTGHWLQRFQPCLPLHTVQWRRLLLLAFLLSLAWPASPLPREEEIVFPEKLNGSSILPGSGVPARLLYRLPAFGEMLLLELEQDPGVQVEGLTVQYLGQAPEMLGGAEPGTYLTGTINGDPESVASLHWDGGALLGVLQYRGAELHLQPLEGGALNSAGGPGAHILRRKSPASSQGPMCTVKAPSGSPSPISRRTKRFASLSRFVETLVVADDKMAAFHGTGLKRYLLTVMAAAAKAFKHPSIRNPVNLVVTRLVILGSGQEGPQVGPSAAQTLRSFCTWQRGLNTPNDSDPDHFDTAILFTRQDLCGVSTCDTLGMADVGTVCDPARSCAIVEDDGLQSAFTAAHELGHVFNMLHDNSKPCTNLNGQGGSSRHVMAPVMAHVDPEEPWSPCSARFITDFLDNGYGHCLLDKPEAPLHLPATFPGKDYDADRQCQLTFGPDSSHCPQLPPPCAALWCSGHLNGHAMCQTKHSPWADGTPCGSSQACMGGRCLHVDQLKDFNVPQAGGWGPWGPWGDCSRTCGGGVQFSSRDCTRPVPRNGGKYCEGRRTRFRSCNTENCPHGSALTFREEQCAAYNHRTDLFKSFPGPMDWVPRYTGVAPRDQCKLTCQARALGYYYVLEPRVADGTPCSPDTSSVCVQGRCIHAGCDRIIGSKKKFDKCMVCGGDGSRCSKQSGSFKKFRYGYSDVVTIPAGATHILVRQQGGSGLKSIYLALKLSDGSYALNGEYTLMPSPTDVVLPGAVSLRYSGATAASETLSGHGPLAQPLTLQVLVAGNPQNARLRYSFFVPRPVPSTPRPPPQDWLQRRAEILKILRKRPWAGRK",
"length": 833
},
"evidence": [
{
"id": "45932826",
"url": "http://www.informatics.jax.org/homology/45932826",
"database": "MGI"
},
{
"id": "O75173",
"url": "https://omabrowser.org/oma/group/O75173/",
"database": "OMA"
}
],
"common_name": "Mouse"
},
{
"uniprot_canonical_ac": "Q9ESP7-1",
"protein_name": "A disintegrin and metalloproteinase with thrombospondin motifs 4",
"gene_name": "Adamts4",
"tax_id": 10116,
"organism": "Rattus norvegicus",
"sequence": {
"sequence": "RRTKRFASLSRFVETLVVADDKMAAFHGAGLKHYLLTVMAAAAKAFKHPSIRNPVNLVVTRLVILGSGQEVPQVGPSAAQTLRSFCTWQKGLNPPNDSDPDHFDTAILFTRQDLCGVSTCDALGMAGVGTVCDPARSCAIVEDDGLQSAFTAAHELGHVFNMLHDNSKPCANLNGQGSSSRHVMAPVMAHVDPEEPWSPCSARFITDFLDNGYGHCLLDKPEAPLHLPVTFPGKDYDADRQCQLTFGPDSSHCPQLPPPCAALWCFGHLNGHAMCQTKHSPWADGTPCGPAQACMGGRCLHVDQLKDFNIPQAGGWGPWGPWGDCSRTCGGGVQFSSRDCTKPVPRNGGKYCEGRRTPFRSCNTKNCPHGSALTFREEQCAAYNHRTDLFKSFPGPMDWVPRYTGVAPRDQCKLTCQARALGYYYVLEPRVADGTPCSPDSSSVCVQGRCIHAGCDRIIGSKKKFDKCMVCGGNGSSCSKQSGSFKKFRYGYSDVVTIPAGRTHILVRQQGGSGLKSIYLALKLADGSYALNGEYTLMPSSTDVVLPGAVSLRYSGRTAASETLSGHGPLAQPLTLQVLVAGNPQNVRLRYSFFVPRPVPSTPRPPPQNWLQRRAEILEILRKRTWAGRK",
"length": 630
},
"evidence": [
{
"id": "45932826",
"url": "http://www.informatics.jax.org/homology/45932826",
"database": "MGI"
}
],
"common_name": "Rat"
}
],
"go_annotation": {
"categories": [
{
"name": "Molecular Function",
"total": 5,
"go_terms": [
{
"name": "metallopeptidase activity",
"id": "GO:0008237",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008237",
"evidence": [
{
"database": "UniProtKB",
"id": "O75173",
"url": "https://www.uniprot.org/uniprot/O75173"
}
],
"pmid": ""
},
{
"name": "protease binding",
"id": "GO:0002020",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020",
"evidence": [
{
"database": "UniProtKB",
"id": "O75173",
"url": "https://www.uniprot.org/uniprot/O75173"
}
],
"pmid": ""
},
{
"name": "metalloendopeptidase activity",
"id": "GO:0004222",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004222",
"evidence": [
{
"database": "UniProtKB",
"id": "O75173",
"url": "https://www.uniprot.org/uniprot/O75173"
}
],
"pmid": ""
},
{
"name": "zinc ion binding",
"id": "GO:0008270",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270",
"evidence": [
{
"database": "UniProtKB",
"id": "O75173",
"url": "https://www.uniprot.org/uniprot/O75173"
}
],
"pmid": ""
},
{
"name": "peptidase activity",
"id": "GO:0008233",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008233",
"evidence": [
{
"database": "UniProtKB",
"id": "O75173",
"url": "https://www.uniprot.org/uniprot/O75173"
}
],
"pmid": ""
}
]
},
{
"name": "Cellular Component",
"total": 6,
"go_terms": [
{
"name": "membrane",
"id": "GO:0016020",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020",
"evidence": [
{
"database": "UniProtKB",
"id": "O75173",
"url": "https://www.uniprot.org/uniprot/O75173"
}
],
"pmid": ""
},
{
"name": "nuclear speck",
"id": "GO:0016607",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607",
"evidence": [
{
"database": "UniProtKB",
"id": "O75173",
"url": "https://www.uniprot.org/uniprot/O75173"
}
],
"pmid": ""
},
{
"name": "extracellular region",
"id": "GO:0005576",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576",
"evidence": [
{
"database": "UniProtKB",
"id": "O75173",
"url": "https://www.uniprot.org/uniprot/O75173"
}
],
"pmid": ""
},
{
"name": "extracellular space",
"id": "GO:0005615",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615",
"evidence": [
{
"database": "UniProtKB",
"id": "O75173",
"url": "https://www.uniprot.org/uniprot/O75173"
}
],
"pmid": ""
},
{
"name": "extracellular matrix",
"id": "GO:0031012",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012",
"evidence": [
{
"database": "UniProtKB",
"id": "O75173",
"url": "https://www.uniprot.org/uniprot/O75173"
}
],
"pmid": ""
},
{
"name": "collagen-containing extracellular matrix",
"id": "GO:0062023",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062023",
"evidence": [
{
"database": "UniProtKB",
"id": "O75173",
"url": "https://www.uniprot.org/uniprot/O75173"
}
],
"pmid": ""
}
]
},
{
"name": "Biological Process",
"total": 4,
"go_terms": [
{
"name": "proteolysis",
"id": "GO:0006508",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508",
"evidence": [
{
"database": "UniProtKB",
"id": "O75173",
"url": "https://www.uniprot.org/uniprot/O75173"
}
],
"pmid": ""
},
{
"name": "extracellular matrix disassembly",
"id": "GO:0022617",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022617",
"evidence": [
{
"database": "UniProtKB",
"id": "O75173",
"url": "https://www.uniprot.org/uniprot/O75173"
}
],
"pmid": ""
},
{
"name": "extracellular matrix organization",
"id": "GO:0030198",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198",
"evidence": [
{
"database": "UniProtKB",
"id": "O75173",
"url": "https://www.uniprot.org/uniprot/O75173"
}
],
"pmid": ""
},
{
"name": "skeletal system development",
"id": "GO:0001501",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501",
"evidence": [
{
"database": "UniProtKB",
"id": "O75173",
"url": "https://www.uniprot.org/uniprot/O75173"
}
],
"pmid": ""
}
]
}
]
},
"pro_annotation": [
{
"name": "a disintegrin and metalloproteinase with thrombospondin motifs 4 O-glycosylated 1 (human)",
"definition": "An a disintegrin and metalloproteinase with thrombospondin motifs 4 (human) that has been O-glycosylated at the residue equivalent to Thr-813 of the amino acid sequence represented by UniProtKB:O75173-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:O75173-1, Thr-813, MOD:00005~GNO:G29068FM. [PRO:DNx, PMID:30459171]",
"evidence": [
{
"id": "PR:000050823",
"database": "PRO",
"url": "https://proconsortium.org/app/entry/PR:000050823"
}
]
},
{
"name": "a disintegrin and metalloproteinase with thrombospondin motifs 4 O-glycosylated 2 (human)",
"definition": "An a disintegrin and metalloproteinase with thrombospondin motifs 4 (human) that has been O-glycosylated at the residue equivalent to Thr-813 of the amino acid sequence represented by UniProtKB:O75173-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:O75173-1, Thr-813, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]",
"evidence": [
{
"id": "PR:000050824",
"database": "PRO",
"url": "https://proconsortium.org/app/entry/PR:000050824"
}
]
}
],
"site_annotation": [
{
"start_pos": 68,
"end_pos": 70,
"annotation": "n_glycosylation_sequon"
}
],
"ptm_annotation": [],
"interactions": [],
"reactions": [
{
"id": "R-HSA-1592310",
"name": "Aggrecan degradation by ADAMTSs",
"equation": "",
"summary": "Aggrecan (large aggregating proteoglycan, chondroitin sulfate proteoglycan 1) is a major structural component of cartilage, particularly articular cartilage. The core protein has over 100 chains of chondroitin sulphate and keratan sulphate giving a MWt of about 250 kDa. The core protein has 2 N-terminal globular domains G1 and G2 and a C-terminal globular G3 domain. G2 and G3 are separated by a region heavily modified with negatively charged glycosaminoglycans (GAGs). The two main modifier moieties keratan sulfate (KS) and chondroitin sulfate (CS) are arranged into two CS regions and a KS-rich region. The 15-kDa interglobular linker (IGD) between the N-terminal G1 and G2 domains is particularly susceptible to proteolysis (Caterson et al. 2000). Degradation in this region is associated with the development of osteoarthritis (Troeberg & Nagase 2012). Members of the ADAM (A Disintegrin And Metalloprotease) protein family are responsible for this cleavage (East et al. 2007, Huang & Wu 2008).
Matrix metalloproteinase (MMP) 3 was the first protease found to degrade aggrecan. It preferentially cleaves the Asn341~Phe342 bond (Fosang et al. 1991). MMP2, 7, 9 (Fosang et al. 1992), 1, 8 (Fosang et al. 1993), 13 (Fosang et al. 1996) and 12 (Durigova et al. 2011) were all found to be able to cleave this site as well as others towards the C-terminus. However, the the majority of aggrecan fragments present in synovial fluid of OA patients are cleaved at Glu392-Ala373 (numbered here according to the UniProt sequence, these residues referred to as Glu373-Ala374 in most literature) in the IGD (Sandy et al. 1992). ADAMTS5 (aggrecanase-2, Abbaszade et al. 1999) and to a lesser extent ADAMTS4 (aggrecanase-1, Tortorella et al. 1999) are primarrily responsible (Gendron et al. 2007) though the preferred cleavage sites of these are in the CS-2 domain. ADAMTS1 (Kuno et al. 2000, Rodriques-Manzaneque et al. 2002), 9, (Somerville et al. 2003), 8 (Colins-Racie 2004), 16 and 18 (Zeng et al. 2006) can also degrade aggrecan in vitro.",
"cellular_location": "extracellular region",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q8TE57-1",
"Q9UNA0-1",
"O75173-1",
"Q8TE60-1",
"Q9P2N4-3",
"Q9UHI8-1",
"Q9UP79-1"
],
"evidence": [
{
"id": "R-HSA-1592310",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1592310"
}
]
},
{
"id": "R-HSA-3788075",
"name": "Brevican degradation by ADAMTS4, ADAMTS5",
"equation": "",
"summary": "Brevican, a member of the lectican family, is one of the most abundant proteoglycans in normal adult brain tissues. It is thought to form lattice structures by linking hyaluronan and tenascin-R through its N- and C-terminal globular domains, respectively. As brain extracellular matrix (ECM) contains no collagen fibrils, this matrix of hyaluronan/brevican/tenascin-R is considered essential to maintain the integrity of brain ECM. \n; \n; Degradation of brevican by proteinases disrupts ECM structures and facilitates invasion of glioma cells (Yamaguchi 2000). The major brevican cleavage site observed under physiological conditions (Yamada et al. 1994) and during glioma invasion (Zhang et al. 1998) is the Glu395-Ser396 bond present within the central domain of the core protein, forming an ~50-kDa N-terminal fragment. This bond is cleaved by ADAMTS4 and 5 (Nakamura et al. 2000, Matthews et al. 2000, Nakada et al. 2005). Matrix metalloproteinases that digest brevican preferentially cleave the Ala360-Phe361 bond. (Nakamura et al. 2000, Nakada et al. 2005, Lettau et al. 2010).",
"cellular_location": "extracellular region",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q9UNA0-1",
"O75173-1"
],
"evidence": [
{
"id": "R-HSA-3788075",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3788075"
}
]
},
{
"id": "R-HSA-5173005",
"name": "B3GALTL transfers glucose to O-fucosyl-proteins",
"equation": "",
"summary": "Human beta-1,3-glucosyltransferase-like protein (B3GALTL, HGNC Approved Gene Symbol: B3GLCT; MIM:610308; CAZy family GT31), localised on the ER membrane, glucosylates O-fucosylated proteins. The resultant glc-beta-1,3-fuc disaccharide modification on thrombospondin type 1 repeat (TSR1) domain-containing proteins is thought to assist in the secretion of many of these proteins from the ER lumen, and mediate an ER quality-control mechanism of folded TSRs (Vasudevan et al. 2015). Defects in B3GALTL can cause Peters plus syndrome (PpS; MIM:261540), an autosomal recessive disorder characterised by anterior eye chamber defects, short stature, delay in growth and mental developmental and cleft lip and/or palate (Heinonen & Maki 2009). More than 10 mutations in B3GALTL causing PsP are known (Weh et al. 2014) including the missense mutation G393E (Dassie Ajdid et al. 2009).",
"cellular_location": "endoplasmic reticulum lumen, endoplasmic reticulum membrane",
"input_participant_list": [
"R-ALL-173594"
],
"output_participant_list": [],
"enzyme_list": [
"P58397-1",
"P59510-1",
"Q76LX8-1",
"Q8TE56-1",
"Q8TE57-1",
"Q9UNA0-1",
"O95450-1",
"Q8TE58-1",
"Q9H324-1",
"Q6Y288-1",
"O15072-1",
"O75173-1",
"Q8TE59-1",
"Q8TE60-1",
"Q8WXS8-1",
"Q9P2N4-3",
"Q9UHI8-1",
"Q9UKP4-1",
"Q9UKP5-1",
"Q9UP79-1"
],
"evidence": [
{
"id": "R-HSA-5173005",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5173005"
}
]
},
{
"id": "R-HSA-5173192",
"name": "POFUT2 transfers fucose to TSR domain-containing proteins",
"equation": "",
"summary": "The O-fucosylation of proteins containing thrombospondin type 1 repeat (TSR1) domains is carried out by protein fucosyltransferase 2 (POFUT2). Only POFUT2 recognises the consensus sequence CSXS/TCG found in TSR1 domains and the fucosyl residue is attached to the hydroxyl group of conserved serine (S) or threonine (T) residues within the consensus sequence (Chen et al. 2012). The modification was first demonstrated on thrombospondin 1 (THBS1, TSP1), found in platelets and the ECM (Hofsteenge et al. 2001, Luo et al. 2006). In humans, there are more than 60 of these TSR1 domain-containing proteins. Only the proteins with similarity to experimentally confirmed ones are listed as candidates.",
"cellular_location": "endoplasmic reticulum lumen, endoplasmic reticulum membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q9Y2G5-3",
"P58397-1",
"P59510-1",
"Q76LX8-1",
"Q8TE56-1",
"Q8TE57-1",
"Q9UNA0-1",
"O95450-1",
"Q8TE58-1",
"Q9H324-1",
"O15072-1",
"O75173-1",
"Q8TE59-1",
"Q8TE60-1",
"Q8WXS8-1",
"Q9P2N4-3",
"Q9UHI8-1",
"Q9UKP4-1",
"Q9UKP5-1",
"Q9UP79-1"
],
"evidence": [
{
"id": "R-HSA-5173192",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5173192"
}
]
},
{
"id": "R-HSA-6785565",
"name": "Defective B3GALTL does not transfer glucose to O-fucosyl-proteins",
"equation": "",
"summary": "Human beta-1,3-glucosyltransferase-like protein (B3GALTL, HGNC Approved Gene Symbol: B3GLCT; MIM:610308; CAZy family GT31), localised on the ER membrane, glucosylates O-fucosylated proteins. The resultant glc-beta-1,3-fuc disaccharide modification on thrombospondin type 1 repeat (TSR1) domain-containing proteins is thought to assist in the secretion of many of these proteins from the ER lumen, and mediate an ER quality-control mechanism of folded TSRs (Vasudevan et al. 2015). Defects in B3GALTL can cause Peters plus syndrome (PpS; MIM:261540), an autosomal recessive disorder characterised by anterior eye chamber defects, short stature, delay in growth and mental developmental and cleft lip and/or palate (Heinonen & Maki 2009). More than 10 mutations in B3GALTL causing PsP are known (Weh et al. 2014) including the missense mutation G393E (Dassie Ajdid et al. 2009).",
"cellular_location": "endoplasmic reticulum lumen, endoplasmic reticulum membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P58397-1",
"P59510-1",
"Q76LX8-1",
"Q8TE56-1",
"Q8TE57-1",
"Q9UNA0-1",
"O95450-1",
"Q8TE58-1",
"Q9H324-1",
"Q6Y288-1",
"O15072-1",
"O75173-1",
"Q8TE59-1",
"Q8TE60-1",
"Q8WXS8-1",
"Q9P2N4-3",
"Q9UHI8-1",
"Q9UKP4-1",
"Q9UKP5-1",
"Q9UP79-1"
],
"evidence": [
{
"id": "R-HSA-6785565",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785565"
}
]
}
],
"reaction_participants": [
{
"participant_id": "R-ALL-173594",
"participant_name": "UDP-D-glucose(2-) [endoplasmic reticulum lumen]",
"crossref": [
{
"id": "000008551096",
"database": "ZINC",
"url": ""
},
{
"id": "133-89-1",
"database": "CAS",
"url": ""
},
{
"id": "58367",
"database": "ChEBI",
"url": ""
},
{
"id": "000008215472",
"database": "ZINC",
"url": ""
},
{
"id": "C00029",
"database": "COMPOUND",
"url": ""
},
{
"id": "C00029",
"database": "KEGG Gene",
"url": ""
},
{
"id": "C00001514",
"database": "KNApSAcK",
"url": ""
},
{
"id": "UDP-GLUCOSE",
"database": "AraCyc",
"url": ""
},
{
"id": "44229134",
"database": "PubChem Compound",
"url": ""
},
{
"id": "C00029",
"database": "COMPOUND",
"url": ""
},
{
"id": "58367",
"database": "ChEBI",
"url": ""
},
{
"id": "C00001514",
"database": "KNApSAcK",
"url": ""
},
{
"id": "000008551096",
"database": "ZINC",
"url": ""
},
{
"id": "44229134",
"database": "PubChem Compound",
"url": ""
},
{
"id": "000008215472",
"database": "ZINC",
"url": ""
},
{
"id": "C00029",
"database": "KEGG Gene",
"url": ""
},
{
"id": "133-89-1",
"database": "CAS",
"url": ""
},
{
"id": "UDP-GLUCOSE",
"database": "AraCyc",
"url": ""
},
{
"id": "C00029",
"database": "COMPOUND",
"url": ""
},
{
"id": "58367",
"database": "ChEBI",
"url": ""
},
{
"id": "C00001514",
"database": "KNApSAcK",
"url": ""
},
{
"id": "000008551096",
"database": "ZINC",
"url": ""
},
{
"id": "44229134",
"database": "PubChem Compound",
"url": ""
},
{
"id": "000008215472",
"database": "ZINC",
"url": ""
},
{
"id": "C00029",
"database": "KEGG Gene",
"url": ""
},
{
"id": "133-89-1",
"database": "CAS",
"url": ""
},
{
"id": "UDP-GLUCOSE",
"database": "AraCyc",
"url": ""
},
{
"id": "C00029",
"database": "KEGG Gene",
"url": ""
},
{
"id": "C00001514",
"database": "KNApSAcK",
"url": ""
},
{
"id": "UDP-GLUCOSE",
"database": "AraCyc",
"url": ""
},
{
"id": "44229134",
"database": "PubChem Compound",
"url": ""
},
{
"id": "C00029",
"database": "COMPOUND",
"url": ""
},
{
"id": "000008551096",
"database": "ZINC",
"url": ""
},
{
"id": "133-89-1",
"database": "CAS",
"url": ""
},
{
"id": "000008215472",
"database": "ZINC",
"url": ""
},
{
"id": "58367",
"database": "ChEBI",
"url": ""
},
{
"id": "C00029",
"database": "KEGG Gene",
"url": ""
},
{
"id": "C00001514",
"database": "KNApSAcK",
"url": ""
},
{
"id": "UDP-GLUCOSE",
"database": "AraCyc",
"url": ""
},
{
"id": "44229134",
"database": "PubChem Compound",
"url": ""
},
{
"id": "C00029",
"database": "COMPOUND",
"url": ""
},
{
"id": "000008215472",
"database": "ZINC",
"url": ""
},
{
"id": "58367",
"database": "ChEBI",
"url": ""
},
{
"id": "133-89-1",
"database": "CAS",
"url": ""
},
{
"id": "000008551096",
"database": "ZINC",
"url": ""
}
]
}
],
"reaction_enzymes": [
{
"uniprot_ac": "O15072",
"gene_name": "ADAMTS3",
"activity": [
{
"ec_number": "3.4.24.-",
"activity": "",
"evidence": [
{
"id": "O15072",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O15072"
}
]
}
]
},
{
"uniprot_ac": "O75173",
"gene_name": "ADAMTS4",
"activity": [
{
"ec_number": "3.4.24.82",
"activity": "Glutamyl endopeptidase. Bonds cleaved include 370-Thr-Glu-Gly-Glu-|-Ala-Arg-Gly-Ser-377 in the interglobular domain of mammalian aggrecan.",
"evidence": [
{
"id": "O75173",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O75173"
}
]
},
{
"ec_number": "3.4.24.82",
"activity": "",
"evidence": [
{
"id": "O75173",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O75173"
}
]
}
]
},
{
"uniprot_ac": "O95450",
"gene_name": "ADAMTS2",
"activity": [
{
"ec_number": "3.4.24.14",
"activity": "Cleaves the N-propeptide of collagen chain alpha1(I) at Pro-|-Gln and of alpha1(II) and alpha2(I) at Ala-|-Gln.",
"evidence": [
{
"id": "O95450",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O95450"
}
]
},
{
"ec_number": "3.4.24.14",
"activity": "",
"evidence": [
{
"id": "O95450",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O95450"
}
]
}
]
},
{
"uniprot_ac": "P58397",
"gene_name": "ADAMTS12",
"activity": [
{
"ec_number": "3.4.24.-",
"activity": "",
"evidence": [
{
"id": "P58397",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P58397"
}
]
}
]
},
{
"uniprot_ac": "P59510",
"gene_name": "ADAMTS20",
"activity": [
{
"ec_number": "3.4.24.-",
"activity": "",
"evidence": [
{
"id": "P59510",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P59510"
}
]
}
]
},
{
"uniprot_ac": "Q6Y288",
"gene_name": "B3GLCT",
"activity": [
{
"ec_number": "2.4.1.-",
"activity": "",
"evidence": [
{
"id": "Q6Y288",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q6Y288"
}
]
}
]
},
{
"uniprot_ac": "Q76LX8",
"gene_name": "ADAMTS13",
"activity": [
{
"ec_number": "3.4.24.87",
"activity": "The enzyme cleaves the von Willebrand factor at bond 842-Tyr-|-Met-843 within the A2 domain.",
"evidence": [
{
"id": "Q76LX8",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q76LX8"
}
]
},
{
"ec_number": "3.4.24.87",
"activity": "",
"evidence": [
{
"id": "Q76LX8",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q76LX8"
}
]
}
]
},
{
"uniprot_ac": "Q8TE56",
"gene_name": "ADAMTS17",
"activity": [
{
"ec_number": "3.4.24.-",
"activity": "",
"evidence": [
{
"id": "Q8TE56",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q8TE56"
}
]
}
]
},
{
"uniprot_ac": "Q8TE57",
"gene_name": "ADAMTS16",
"activity": [
{
"ec_number": "3.4.24.-",
"activity": "",
"evidence": [
{
"id": "Q8TE57",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q8TE57"
}
]
}
]
},
{
"uniprot_ac": "Q8TE58",
"gene_name": "ADAMTS15",
"activity": [
{
"ec_number": "3.4.24.-",
"activity": "",
"evidence": [
{
"id": "Q8TE58",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q8TE58"
}
]
}
]
},
{
"uniprot_ac": "Q8TE59",
"gene_name": "ADAMTS19",
"activity": [
{
"ec_number": "3.4.24.-",
"activity": "",
"evidence": [
{
"id": "Q8TE59",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q8TE59"
}
]
}
]
},
{
"uniprot_ac": "Q8TE60",
"gene_name": "ADAMTS18",
"activity": [
{
"ec_number": "3.4.24.-",
"activity": "",
"evidence": [
{
"id": "Q8TE60",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q8TE60"
}
]
}
]
},
{
"uniprot_ac": "Q8WXS8",
"gene_name": "ADAMTS14",
"activity": [
{
"ec_number": "3.4.24.-",
"activity": "",
"evidence": [
{
"id": "Q8WXS8",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q8WXS8"
}
]
}
]
},
{
"uniprot_ac": "Q9H324",
"gene_name": "ADAMTS10",
"activity": [
{
"ec_number": "3.4.24.-",
"activity": "",
"evidence": [
{
"id": "Q9H324",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q9H324"
}
]
}
]
},
{
"uniprot_ac": "Q9P2N4",
"gene_name": "ADAMTS9",
"activity": [
{
"ec_number": "3.4.24.-",
"activity": "",
"evidence": [
{
"id": "Q9P2N4",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q9P2N4"
}
]
}
]
},
{
"uniprot_ac": "Q9UHI8",
"gene_name": "ADAMTS1",
"activity": [
{
"ec_number": "3.4.24.-",
"activity": "",
"evidence": [
{
"id": "Q9UHI8",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q9UHI8"
}
]
}
]
},
{
"uniprot_ac": "Q9UKP4",
"gene_name": "ADAMTS7",
"activity": [
{
"ec_number": "3.4.24.-",
"activity": "",
"evidence": [
{
"id": "Q9UKP4",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q9UKP4"
}
]
}
]
},
{
"uniprot_ac": "Q9UKP5",
"gene_name": "ADAMTS6",
"activity": [
{
"ec_number": "3.4.24.-",
"activity": "",
"evidence": [
{
"id": "Q9UKP5",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q9UKP5"
}
]
}
]
},
{
"uniprot_ac": "Q9UNA0",
"gene_name": "ADAMTS5",
"activity": [
{
"ec_number": "3.4.24.-",
"activity": "",
"evidence": [
{
"id": "Q9UNA0",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q9UNA0"
}
]
}
]
},
{
"uniprot_ac": "Q9UP79",
"gene_name": "ADAMTS8",
"activity": [
{
"ec_number": "3.4.24.-",
"activity": "",
"evidence": [
{
"id": "Q9UP79",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q9UP79"
}
]
}
]
},
{
"uniprot_ac": "Q9Y2G5",
"gene_name": "POFUT2",
"activity": [
{
"ec_number": "2.4.1.221",
"activity": "GDP-beta-L-fucose + L-threonyl-[protein] = 3-O-(alpha-L-fucosyl)-L-threonyl-[protein] + GDP + H(+).",
"evidence": [
{
"id": "Q9Y2G5",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q9Y2G5"
}
]
},
{
"ec_number": "2.4.1.221",
"activity": "",
"evidence": [
{
"id": "Q9Y2G5",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q9Y2G5"
}
]
}
]
}
],
"biomarkers": [],
"synthesized_glycans": [],
"cluster_types": [
{
"name": "isoformset.uniprotkb",
"label": "Isoforms"
},
{
"name": "homologset.oma",
"label": "OMA Homologs"
},
{
"name": "homologset.mgi",
"label": "MGI Homologs"
}
],
"sequence_features": {
"n_linked_sites": [
68
],
"o_linked_sites": [
813
],
"snv_sites": [
68,
259,
383,
385,
420,
491,
546,
620,
681,
813
],
"glycation_sites": [],
"phosphorylation_sites": [
782
],
"sequon_annotation_sites": [
{
"start_pos": 68,
"end_pos": 70
}
]
},
"section_stats": [
{
"table_id": "glycosylation",
"table_stats": [
{
"field": "total",
"count": 3
},
{
"field": "total_sites",
"count": 2
},
{
"field": "n_linked_glycans",
"count": 0
},
{
"field": "n_linked_glycan_sites",
"count": 1
},
{
"field": "o_linked_glycans",
"count": 2
},
{
"field": "o_linked_glycan_sites",
"count": 1
}
],
"sort_fields": [
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]
},
{
"table_id": "glycosylation_reported",
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"field": "total",
"count": 1
},
{
"field": "total_sites",
"count": 1
},
{
"field": "n_linked_glycans",
"count": 0
},
{
"field": "n_linked_glycan_sites",
"count": 1
},
{
"field": "o_linked_glycans",
"count": 0
},
{
"field": "o_linked_glycan_sites",
"count": 0
}
],
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]
},
{
"table_id": "glycosylation_reported_with_glycan",
"table_stats": [
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"field": "total",
"count": 2
},
{
"field": "total_sites",
"count": 1
},
{
"field": "n_linked_glycans",
"count": 0
},
{
"field": "n_linked_glycan_sites",
"count": 0
},
{
"field": "o_linked_glycans",
"count": 2
},
{
"field": "o_linked_glycan_sites",
"count": 1
}
],
"sort_fields": [
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"start_pos",
"start_aa",
"end_pos",
"end_aa",
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]
},
{
"table_id": "glycosylation_predicted",
"table_stats": [
{
"field": "total",
"count": 0
},
{
"field": "total_sites",
"count": 0
},
{
"field": "n_linked_glycans",
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},
{
"field": "n_linked_glycan_sites",
"count": 0
},
{
"field": "o_linked_glycans",
"count": 0
},
{
"field": "o_linked_glycan_sites",
"count": 0
}
],
"sort_fields": []
},
{
"table_id": "glycosylation_automatic_literature_mining",
"table_stats": [
{
"field": "total",
"count": 0
},
{
"field": "total_sites",
"count": 0
},
{
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"count": 0
},
{
"field": "n_linked_glycan_sites",
"count": 0
},
{
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