{
"uniprot_canonical_ac": "O60882-1",
"uniprot_ac": "O60882",
"uniprot_id": "MMP20_HUMAN",
"mass": {
"chemical_mass": 54387.0,
"monoisotopic_mass": 54387.0
},
"refseq": {
"ac": "NP_004762",
"name": "matrix metalloproteinase-20 preproprotein",
"summary": "Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The protein encoded by this gene degrades amelogenin, the major protein component of dental enamel matrix, and thus thought to play a role in tooth enamel formation. A mutation in this gene, which alters the normal splice pattern and results in premature termination of the encoded protein, has been associated with amelogenesis imperfecta. This gene is part of a cluster of MMP genes located on chromosome 11q22.3. [provided by RefSeq, Aug 2011].",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_004762"
},
"gene_names": [
{
"name": "MMP20",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/O60882",
"id": "O60882"
},
{
"name": "AI2A2; MMP-20",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_004762",
"id": "NP_004762"
},
{
"name": "MMP20",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_004762",
"id": "NP_004762"
}
],
"protein_names": [
{
"name": "Matrix metalloproteinase-20",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "O60882"
},
{
"name": "3.4.24.-",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O60882"
},
{
"name": "Enamel metalloproteinase",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O60882"
},
{
"name": "Enamelysin",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O60882"
},
{
"name": "MMP-20",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O60882"
},
{
"name": "matrix metalloproteinase 20 (enamelysin); enamel metalloproteinase; matrix metalloproteinase-20",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_004762",
"id": "NP_004762"
},
{
"name": "matrix metalloproteinase-20 preproprotein",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_004762",
"id": "NP_004762"
}
],
"function": [
{
"annotation": "AMELX and ODAM variations was not different between two populations of schoolchildren with respect to dental fluorosis (DF) severity; however, the presence of rs1784418 differed between phenotypes with regard to susceptibility to DF. Therefore, MMP20 might be related to the various phenotypes of DF",
"evidence": [
{
"database": "RefSeq",
"id": "NP_004762",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_004762"
},
{
"database": "PubMed",
"id": "31838295",
"url": "https://glygen.org/publication/PubMed/31838295"
}
]
},
{
"annotation": "Degrades amelogenin, the major protein component of the enamel matrix and two of the macromolecules characterizing the cartilage extracellular matrix: aggrecan and the cartilage oligomeric matrix protein (COMP). May play a central role in tooth enamel formation. Cleaves aggrecan at the '360-Asn-|-Phe-361' site.",
"evidence": [
{
"database": "UniProtKB",
"id": "O60882",
"url": "https://www.uniprot.org/uniprot/O60882#function"
},
{
"database": "PubMed",
"id": "9398237",
"url": "https://glygen.org/publication/PubMed/9398237"
},
{
"database": "PubMed",
"id": "10922468",
"url": "https://glygen.org/publication/PubMed/10922468"
}
]
},
{
"annotation": "Dental malformations associated with biallelic MMP20 mutations.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_004762",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_004762"
},
{
"database": "PubMed",
"id": "32495503",
"url": "https://glygen.org/publication/PubMed/32495503"
}
]
},
{
"annotation": "Lung development, repair and cancer: A study on the role of MMP20 gene in adenocarcinoma. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_004762",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_004762"
},
{
"database": "PubMed",
"id": "33914777",
"url": "https://glygen.org/publication/PubMed/33914777"
}
]
},
{
"annotation": "Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The protein encoded by this gene degrades amelogenin, the major protein component of dental enamel matrix, and thus thought to play a role in tooth enamel formation. A mutation in this gene, which alters the normal splice pattern and results in premature termination of the encoded protein, has been associated with amelogenesis imperfecta. This gene is part of a cluster of MMP genes located on chromosome 11q22.3. [provided by RefSeq, Aug 2011].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_004762",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_004762"
}
]
},
{
"annotation": "The minimum alleles of rs10895322, rs1784424, rs3781788, and rs1573954 correlated with an increased risk of alcohol-induced ONFH (P<0.05). Genetic model analysis revealed significant associations of 9 SNPs with alcohol-induced ONFH occurrence after adjustment for age (P<0.05): 2 protective SNPs (rs1711423 and rs1784418) and 7 high-risk SNPs (rs10895322, rs1784424, rs3781788, rs7126560, rs1573954, rs1711399, rs2292730). Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_004762",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_004762"
},
{
"database": "PubMed",
"id": "31106781",
"url": "https://glygen.org/publication/PubMed/31106781"
}
]
},
{
"annotation": "The possible influence of genetic aetiological factors on molar-incisor hypomineralisation.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_004762",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_004762"
},
{
"database": "PubMed",
"id": "32777581",
"url": "https://glygen.org/publication/PubMed/32777581"
}
]
}
],
"disease": [
{
"disease_id": "DOID:0110060",
"recommended_name": {
"id": "DOID:0110060",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0110060",
"name": "amelogenesis imperfecta hypomaturation type 2A2",
"description": "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the matrix metalloproteinase-20 gene (MMP20)."
},
"synonyms": [
{
"id": "DOID:0110060",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0110060",
"name": "AI2A2",
"description": ""
},
{
"id": "DOID:0110060",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0110060",
"name": "amelogenesis imperfecta hypomaturation type IIA2",
"description": ""
},
{
"id": "DOID:0110060",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0110060",
"name": "amelogenesis imperfecta type IIA2",
"description": ""
},
{
"id": "DOID:0110060",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0110060",
"name": "amelogenesis imperfecta pigmented hypomaturation type 2",
"description": ""
},
{
"id": "MONDO:0012926",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012926",
"name": "amelogenesis imperfecta hypomaturation type 2A2",
"description": "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the MMP20 gene."
},
{
"id": "MONDO:0012926",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012926",
"name": "AI2A2",
"description": ""
},
{
"id": "MONDO:0012926",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012926",
"name": "MMP20 amelogenesis imperfecta",
"description": ""
},
{
"id": "MONDO:0012926",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012926",
"name": "amelogenesis imperfecta caused by mutation in MMP20",
"description": ""
},
{
"id": "MONDO:0012926",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012926",
"name": "amelogenesis imperfecta hypomaturation type IIA2",
"description": ""
},
{
"id": "MONDO:0012926",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012926",
"name": "amelogenesis imperfecta pigmented hypomaturation type 2",
"description": ""
},
{
"id": "MONDO:0012926",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012926",
"name": "amelogenesis imperfecta type IIA2",
"description": ""
},
{
"id": "MONDO:0012926",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012926",
"name": "amelogenesis imperfecta, type IIA2",
"description": ""
},
{
"id": "MONDO:0012926",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012926",
"name": "amelogenesis imperfecta, hypomaturation type, IIA2",
"description": ""
},
{
"id": "MONDO:0012926",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012926",
"name": "amelogenesis imperfecta, pigmented hypomaturation type, 2",
"description": ""
},
{
"id": "MIM:612529",
"resource": "MIM",
"url": "https://www.omim.org/entry/612529",
"name": "Amelogenesis imperfecta, hypomaturation type, 2A2",
"description": "Amelogenesis imperfecta, hypomaturation type, 2A2"
}
],
"evidence": [
{
"id": "612529",
"database": "MIM",
"url": "https://www.omim.org/entry/612529"
}
]
}
],
"snv": [
{
"evidence": [
{
"id": "rs1344070631",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1344070631"
},
{
"id": "rs1344070631",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs1344070631"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 236,
"end_pos": 236,
"sequence_org": "H",
"sequence_mut": "N",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (HST->NST).",
"chr_id": "11",
"chr_pos": "102609042",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "H236",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "O60882",
"database": "BioMuta",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60882"
}
],
"glycoeffect": [],
"start_pos": 275,
"end_pos": 275,
"subjects_tested": "0",
"subjects_positive": "0",
"frequency": "0.0",
"sequence_org": "V",
"sequence_mut": "A",
"comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).",
"chr_id": "11",
"chr_pos": "102606664",
"ref_nt": "A",
"alt_nt": "G",
"minor_allelic_frequency": "",
"site_lbl": "V275",
"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"
}
]
},
{
"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",
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"url": "http://disease-ontology.org/term/DOID:5041",
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate cancer, familial",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate neoplasm",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostatic cancer",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostatic neoplasm",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "tumor of the prostate",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, type 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "HPC9",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, 12",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene."
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "EHBP1 familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "familial prostate cancer caused by mutation in EHBP1",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, 12",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, type 12",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "HPC12",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, type 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "HPC5",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, type 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, susceptibility to, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "HPC3",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, type 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, susceptibility to, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "HPC4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, on chromosome 7",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene."
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "MSMB familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "familial prostate cancer caused by mutation in MSMB",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, type 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "HPC13",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, type 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "HPC8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "predisposing for prostate cancer",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, type 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "HPC6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "HPC10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate carcinoma",
"description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma."
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate carcinoma",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, somatic",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, hereditary",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "HPC7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer aggressiveness",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene."
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "RNASEL familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "familial prostate cancer caused by mutation in RNASEL",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, type 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "HPC1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "Prca1",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "HPC11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "HPC14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "HPC15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "HPCX1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer susceptibility, X-linked",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "HPCX2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MIM:611868",
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"url": "https://www.omim.org/entry/611868",
"name": "Prostate cancer, hereditary, 12",
"description": "Prostate cancer, hereditary, 12"
},
{
"id": "MIM:611928",
"resource": "MIM",
"url": "https://www.omim.org/entry/611928",
"name": "Prostate cancer, hereditary, 13",
"description": "Prostate cancer, hereditary, 13"
},
{
"id": "MIM:176807",
"resource": "MIM",
"url": "https://www.omim.org/entry/176807",
"name": "Prostate cancer",
"description": "Prostate cancer"
},
{
"id": "MIM:601518",
"resource": "MIM",
"url": "https://www.omim.org/entry/601518",
"name": "Prostate cancer, hereditary, 1",
"description": "Prostate cancer, hereditary, 1"
},
{
"id": "MIM:611955",
"resource": "MIM",
"url": "https://www.omim.org/entry/611955",
"name": "Prostate cancer, hereditary, 11",
"description": "Prostate cancer, hereditary, 11"
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Stomach cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10534",
"evidence": [
{
"database": "BioXpress",
"id": "O60882",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60882"
}
],
"disease": [
{
"disease_id": "DOID:10534",
"recommended_name": {
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"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",
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"url": "http://disease-ontology.org/term/DOID:10534",
"name": "gastric cancer",
"description": ""
},
{
"id": "DOID:10534",
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},
{
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"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",
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"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": "up",
"name": "Urinary bladder cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11054",
"evidence": [
{
"database": "BioXpress",
"id": "O60882",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60882"
}
],
"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",
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},
"synonyms": [
{
"id": "DOID:11054",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11054",
"name": "bladder cancer",
"description": ""
},
{
"id": "DOID:11054",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11054",
"name": "tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
"description": "A primary or metastatic malignant neoplasm involving the bladder."
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "bladder cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "cancer of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor, urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumour",
"description": ""
},
{
"id": "MIM:109800",
"resource": "MIM",
"url": "https://www.omim.org/entry/109800",
"name": "Bladder cancer",
"description": "Bladder cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Head and neck cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11934",
"evidence": [
{
"database": "BioXpress",
"id": "O60882",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60882"
}
],
"disease": [
{
"disease_id": "DOID:11934",
"recommended_name": {
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck cancer",
"description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx."
},
"synonyms": [
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck tumours",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head/neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
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"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Lung cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1324",
"evidence": [
{
"database": "BioXpress",
"id": "O60882",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60882"
}
],
"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": "No",
"trend": "up",
"name": "Breast cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1612",
"evidence": [
{
"database": "BioXpress",
"id": "O60882",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60882"
}
],
"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": [
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "breast tumor",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "malignant neoplasm of breast",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "malignant tumor of the breast",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "mammary cancer",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "mammary tumor",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "primary breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast carcinoma",
"description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma."
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer susceptibility, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, lobular, somatic",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, somatic",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial breast carcinoma",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial cancer of breast",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial cancer of the breast",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast carcinoma",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, familial",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, familial Male",
"description": ""
},
{
"id": "MIM:114480",
"resource": "MIM",
"url": "https://www.omim.org/entry/114480",
"name": "Breast cancer",
"description": "Breast cancer"
}
]
}
]
},
{
"significant": "No",
"trend": "up",
"name": "Thyroid cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1781",
"evidence": [
{
"database": "BioXpress",
"id": "O60882",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60882"
}
],
"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": "No",
"trend": "down",
"name": "Kidney cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:263",
"evidence": [
{
"database": "BioXpress",
"id": "O60882",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60882"
}
],
"disease": [
{
"disease_id": "DOID:263",
"recommended_name": {
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "kidney cancer",
"description": "A urinary system cancer that is located_in the kidney."
},
"synonyms": [
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "malignant neoplasm of kidney except pelvis",
"description": ""
},
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "malignant tumour of kidney",
"description": ""
},
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "renal cancer",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Liver cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:3571",
"evidence": [
{
"database": "BioXpress",
"id": "O60882",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60882"
}
],
"disease": [
{
"disease_id": "DOID:3571",
"recommended_name": {
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "liver cancer",
"description": "A hepatobiliary system cancer that is located_in the liver."
},
"synonyms": [
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "Ca liver - primary",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "Resectable malignant neoplasm of Liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "hepatic cancer",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "hepatic neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant hepato-biliary neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver, primary",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant tumor of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "non-resectable primary hepatic malignant neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "primary liver cancer",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "primary malignant neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "resectable malignant neoplasm of the liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver, not specified as primary or secondary",
"description": ""
}
]
}
]
},
{
"significant": "No",
"trend": "up",
"name": "Uterine cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:363",
"evidence": [
{
"database": "BioXpress",
"id": "O60882",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60882"
}
],
"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": "Yes",
"trend": "up",
"name": "Esophageal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:5041",
"evidence": [
{
"database": "BioXpress",
"id": "O60882",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60882"
}
],
"disease": [
{
"disease_id": "DOID:5041",
"recommended_name": {
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophageal cancer",
"description": "A gastrointestinal system cancer that is located_in the esophagus."
},
"synonyms": [
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca lower third oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca middle third oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophagus cancer",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of distal third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of lower third of oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of middle third of oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of proximal third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of upper third esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of Distal Third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of Proximal Third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of abdominal esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of the middle Third of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer",
"description": "A primary or metastatic malignant neoplasm involving the esophagus."
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "cancer of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "cancer of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal squamous cell carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophagus cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal tumor",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal tumour",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus tumor",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant oesophagus neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant oesophagus tumour",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "oesophagus cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca lower third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca lower third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca middle third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca middle third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of distal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of distal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of lower third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of lower third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of middle third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of middle third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of proximal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of proximal third of oesophagus",
"description": ""
},
{
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"date": "2008",
"authors": "Cailhier JF, Sirois I, Laplante P, Lepage S, Raymond MA, Brassard N, Prat A, Iozzo RV, Pshezhetsky AV, Hebert MJ",
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"date": "2009",
"authors": "Xiong W, Knispel R, MacTaggart J, Greiner TC, Weiss SJ, Baxter BT",
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"sequence": "MKVLPASGLAVLVTALKFATAAPALLAATPRTFRSNYHLAQAYLDKYYTKKGGPQAGEMVARESNPTVRKIKELQTFFGLRVTGKLDQNTMDVIKRPRCGVPDVANYRLFPGEPKWKKNILTYRVSKYTPSMSPTEVDKAVHMALHAWSTAVPLIFVRINSGEADIMISFETGDHGDSYPFDGPRGTLAHAFAPGEGLGGDTHFDNAEKWTMGTNGFNLFTVAAHEFGHALGLGHSTDPSALMYPTYKYQNPYRFHLPKDDVKGIQALYGPRKTFPGKPTMPHIPPHKPSIPDLCDSSSSFDAVTMLGKELLFFKDRIFWRRRVHLPAGIRPSTITSSFPQLMSNVDAAYEVAERGIAFFFKGPHYWVTRGFQMQGPPRTIYDFGFPRHVQRIDAAVYLKEPQKTLFFVGEEYYSYDERKKKMEKDYPKSTEEEFSGVSGHIDAAVELNGYIYFFSGPKTFKYDTEKEDVVSVVKSSSWVGC",
"length": 482
},
"evidence": [
{
"id": "45923870",
"url": "http://www.informatics.jax.org/homology/45923870",
"database": "MGI"
},
{
"id": "O60882",
"url": "https://omabrowser.org/oma/group/O60882/",
"database": "OMA"
}
],
"common_name": "Rat"
},
{
"uniprot_canonical_ac": "P57748-1",
"protein_name": "Matrix metalloproteinase-20",
"gene_name": "Mmp20",
"tax_id": 10090,
"organism": "Mus musculus",
"sequence": {
"sequence": "MKVLPASGLAVLVTALKFATADPNLLAATPRTFRSNYHLAQAYLDKYYTKKGGPQAGEMVARESNPMIRRIKELQIFFGLKVTGKLDQNTMNVIKKPRCGVPDVANYRLFPGEPKWKKNILTYRISKYTPSMSPTEVDKAIQMALHAWSTAVPLNFVRINSGEADIMISFETGDHGDSYPFDGPRGTLAHAFAPGEGLGGDTHFDNAEKWTMGTNGFNLFTVAAHEFGHALGLGHSTDPSALMYPTYKYQNPYRFHLPKDDVKGIQALYGPRKIFPGKPTMPHIPPHKPSIPDLCDSSSSFDAVTMLGKELLFFKDRIFWRRQVHLPTGIRPSTITSSFPQLMSNVDAAYEVAERGIAFFFKGPHYWVTRGFHMQGPPRTIYDFGFPRHVQRIDAAVYLKEPQKTLFFVGEEYYSYDERKKKMEKDYPKNTEEEFSGVSGHIDAAVELNGYIYFFSGRKTFKYDTEKEDVVSVVKSSSWIGC",
"length": 482
},
"evidence": [
{
"id": "45923870",
"url": "http://www.informatics.jax.org/homology/45923870",
"database": "MGI"
},
{
"id": "O60882",
"url": "https://omabrowser.org/oma/group/O60882/",
"database": "OMA"
}
],
"common_name": "Mouse"
},
{
"uniprot_canonical_ac": "P79287-1",
"protein_name": "Matrix metalloproteinase-20",
"gene_name": "MMP20",
"tax_id": 9823,
"organism": "Sus scrofa",
"sequence": {
"sequence": "MKVLPASGLAVLLVTALKFSAAAPSLFAATPRTSRNNYHLAQAYLDKYYTKKGGHQVGEMVAKGGNSMVKKIKELQAFFGLRVTGKLDRTTMDVIKRPRCGVPDVANYRLFPGEPKWKKNTLTYRISKYTPSMTPAEVDKAMEMALQAWSSAVPLSFVRVNAGEADIMISFETGDHGDSYPFDGPRGTLAHAFAPGEGLGGDTHFDNAEKWTMGMNGFNLFTVAAHEFGHALGLAHSTDPSALMYPTYKYQNPYGFHLPKDDVKGIQALYGPRKTFTGKPTVPHGPPHNPSLPDICDSSSSFDAVTMLGKELLFFRDRIFWRRQVHLMSGIRPSTITSSFPQLMSNVDAAYEVADRGMAYFFKGPHYWITRGFQMQGPPRTIYDFGFPRYVQRIDAAVHLKDTQKTLFFVGDEYYSYDERKRKMDKDYPKNTEEEFSGVNGQIDAAVELNGYIYFFSGPKAYKYDTEKEDVVSVLKSNSWIGC",
"length": 483
},
"evidence": [
{
"id": "O60882",
"url": "https://omabrowser.org/oma/group/O60882/",
"database": "OMA"
}
],
"common_name": "Pig"
}
],
"go_annotation": {
"categories": [
{
"name": "Biological Process",
"total": 7,
"go_terms": [
{
"name": "regulation of enamel mineralization",
"id": "GO:0070173",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070173",
"evidence": [
{
"database": "UniProtKB",
"id": "O60882",
"url": "https://www.uniprot.org/uniprot/O60882"
}
],
"pmid": ""
},
{
"name": "proteolysis",
"id": "GO:0006508",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508",
"evidence": [
{
"database": "UniProtKB",
"id": "O60882",
"url": "https://www.uniprot.org/uniprot/O60882"
}
],
"pmid": ""
},
{
"name": "extracellular matrix disassembly",
"id": "GO:0022617",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022617",
"evidence": [
{
"database": "UniProtKB",
"id": "O60882",
"url": "https://www.uniprot.org/uniprot/O60882"
}
],
"pmid": ""
},
{
"name": "extracellular matrix organization",
"id": "GO:0030198",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198",
"evidence": [
{
"database": "UniProtKB",
"id": "O60882",
"url": "https://www.uniprot.org/uniprot/O60882"
}
],
"pmid": ""
},
{
"name": "protein catabolic process",
"id": "GO:0030163",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030163",
"evidence": [
{
"database": "UniProtKB",
"id": "O60882",
"url": "https://www.uniprot.org/uniprot/O60882"
}
],
"pmid": ""
},
{
"name": "collagen catabolic process",
"id": "GO:0030574",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030574",
"evidence": [
{
"database": "UniProtKB",
"id": "O60882",
"url": "https://www.uniprot.org/uniprot/O60882"
}
],
"pmid": ""
},
{
"name": "amelogenesis",
"id": "GO:0097186",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097186",
"evidence": [
{
"database": "UniProtKB",
"id": "O60882",
"url": "https://www.uniprot.org/uniprot/O60882"
}
],
"pmid": ""
}
]
},
{
"name": "Molecular Function",
"total": 2,
"go_terms": [
{
"name": "metalloendopeptidase activity",
"id": "GO:0004222",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004222",
"evidence": [
{
"database": "UniProtKB",
"id": "O60882",
"url": "https://www.uniprot.org/uniprot/O60882"
}
],
"pmid": ""
},
{
"name": "zinc ion binding",
"id": "GO:0008270",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270",
"evidence": [
{
"database": "UniProtKB",
"id": "O60882",
"url": "https://www.uniprot.org/uniprot/O60882"
}
],
"pmid": ""
}
]
},
{
"name": "Cellular Component",
"total": 3,
"go_terms": [
{
"name": "extracellular region",
"id": "GO:0005576",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576",
"evidence": [
{
"database": "UniProtKB",
"id": "O60882",
"url": "https://www.uniprot.org/uniprot/O60882"
}
],
"pmid": ""
},
{
"name": "extracellular space",
"id": "GO:0005615",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615",
"evidence": [
{
"database": "UniProtKB",
"id": "O60882",
"url": "https://www.uniprot.org/uniprot/O60882"
}
],
"pmid": ""
},
{
"name": "extracellular matrix",
"id": "GO:0031012",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012",
"evidence": [
{
"database": "UniProtKB",
"id": "O60882",
"url": "https://www.uniprot.org/uniprot/O60882"
}
],
"pmid": ""
}
]
}
]
},
"pro_annotation": [],
"site_annotation": [],
"ptm_annotation": [],
"interactions": [],
"reactions": [
{
"id": "R-HSA-1454781",
"name": "MMP1,3,13 (2, 7-12, 19) binding by Alpha-2 macroglubulin",
"equation": "",
"summary": "Alpha 2-macroglobulin (A2M) is a plasma glycoprotein consisting of 4 near-identical subunits (Andersen et al. 1995). A2M inhibits almost all endopeptidases regardless of their specificities (Barrett 1981). A2M binding to an endopeptidase is triggered by cleavage of a peptide bond in the 'bait region' of A2M, triggering a conformational change in A2M that in turn entraps the peptidase without blocking the active site (Barrett & Starkey 1973). This blocks enzyme activity against large protein substrates while not preventing activity on low molecular weight substrates.
Once bound, A2M-proteinase complexes are endocytosed by low density lipoprotein receptor-related protein-1 (LRP1) (Strickland et al. 1990).
Active metalloproteinases (MMPs) that can be entrapped by A2M include MMP3 (Enghild et al. 1989) MMP1 (Grinnell et al. 1998) and MMP 13 (Beekman et al. 1999).
The significance of this mechanism as a regulator of MMP activity is unclear (Baker et al. 2002, Nagase et al. 2006).",
"cellular_location": "extracellular region",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P03956-1",
"P39900-1",
"P14780-1",
"P08253-1",
"P24347-1",
"P45452-1",
"P09238-1",
"P09237-1",
"P08254-1",
"O60882-1",
"P22894-1",
"Q99542-1"
],
"evidence": [
{
"id": "R-HSA-1454781",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1454781"
}
]
},
{
"id": "R-HSA-1566979",
"name": "Laminin-332 degradation by laminin-322 degrading extracellular proteinases",
"equation": "",
"summary": "Laminins are an important molecular component of the basement membranes (BMs) in a variety of tissue types. They have a cruciform shape, and are composed of three chains, alpha, beta and gamma., all of which have multiple subtypes. At the ultrastructural level, each laminin trimer appears as a cross-like structure with a large globular domain (LG domain) at the base of the cross. The LG domain is the C-terminal domain of the alpha subunit; it is divided into five homologous subdomains LG1-5 (Sugawara et al. 2008). Keratinocytes of the skin secrete numerous laminin isoforms, including laminin-511 and laminin-332. ; ; Laminin-332 undergoes extensive proteolysis following secretion, which is essential for laminin-332 integration into the BM (Rousselle & Beck 2013). The 200 kDa alpha-3 subunit of laminin-332 is cleaved between the LG3-LG4 subdomains to generate a 165 kDa product. The 160 kDa gamma-2 subunit is cleaved at its N-terminus to produce a 105 kDa protein (Marinkovich et al. 1992). Tissue remodeling may lead to further proteolysis of the 105 kDa subunit within the N-terminus giving rise to a 80 kDa protein (Gianelli et al. 1997, Koshikawa et al. 2005). The resulting N-terminal fragment has EGF-like properties and may activate the EGF receptor, inducing cell migration (Schenk et al. 2003). ; ; In much of the early literature it is not clear which subunit of the laminin trimer was cleaved, but in vitro studies have revealed specific enzymes involved in the processing of laminin-332 including MMP2, MMP14 (MT1-MMP), and the C-proteinase family of enzymes, especially bone morphogenic protein 1 (BMP1) and mammalian tolloid (mTLD), isoforms 1 and 3 respectively of UniProt P13497 BMP1 (Sugawara et al. 2008, Rousselle & Beck 2013). Many proteases have been demonstrated to degrade specific subunits of laminin-332. The beta-3 chain is degraded by matrix metalloproteinase 14 (MMP14, MT1-MMP, Udayakumar et al. 2003) and MMP7 (Remy et al. 2006). The alpha-3 chain is degraded by plasmin (Goldfinger et al. 1998, 1999) and BMP1 (and its isoform mTLD, Veitch et al. 2003). Laminin gamma-2 chain is degraded by MMP14 (Koshikawa et al. 2000, 2005, Piril\u00e4 et al. 2003) , MMP2 (Gianelli et al. 1997, Piril\u00e4 et al. 2003), MMP3, 12, 13 (Piril\u00e4 et al. 2003), 19 (Sadowski et al. 2005), MMP20 (V\u00e4\u00e4n\u00e4nen et al. 2001, Piril\u00e4 et al. 2003), BMP1 (Amano et al. 2000, Kessler et al. 2001) and mTLD (Veitch et al. 2003). Plasmin cleavage of laminin-111 yields fragments with sizes that correspond to the cleavage of the alpha and beta/gamma components (Guti\u00e9rrez-Fern\u00e1ndez et al. 2009). ; ; In this reaction laminin-322 is represented with all 3 component peptides cleaved.",
"cellular_location": "extracellular region",
"input_participant_list": [
"R-HSA-216001"
],
"output_participant_list": [
"R-HSA-2533911"
],
"enzyme_list": [
"P39900-1",
"P00747-1",
"P13497-1",
"P08253-1",
"P45452-1",
"P09237-1",
"P08254-1",
"O60882-1",
"Q99542-1"
],
"evidence": [
{
"id": "R-HSA-1566979",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1566979"
}
]
},
{
"id": "R-HSA-2168923",
"name": "Collagen type XVIII endostatin release",
"equation": "",
"summary": "Collagen type XVIII is a heparan sulfate proteoglycan associated with the basement membranes of almost all epithelia and endothelia. It has a large C-terminal noncollagenous domain. Mouse knockouts suggest that it may have a role in maintaining the structural integrity of the extracellular matrix (Utriainen et al. 2004).
Proteolytic cleavage of the C-terminal noncollagenous domain by matrix metalloproteinases (Heljasvaara et al. 2005) releases 18 to 38 kDa C-terminal proteolytic fragments, collectively named endostatin. They have anti-angiogenic activity (O'Reilly et al. 1997, St\u00e4ndker et al. 1997) and suppress primary tumor and metastasis growth in experimental animal models (Ortega & Werb 2002). It is not clear whether this collagen subtype forms supramolecular assemblies (Myllyharju & Kivirikko, 2004) but thought likely, via a similar mechanism to the related collagen XV (Hurskainen et al. 2010).
Endostatin-like fragments are released from collagen type XVIII by MMP 7 (Lin et al. 2001), 3, 9, 12, 13 (Ferreras et al. 2000) and 20 (Heljasvaara et al. 2005). Several cathepsins and elastase can bring about endostatin release (Ferreras et al. 2000, Felbor et al. 2000).",
"cellular_location": "extracellular region",
"input_participant_list": [
"R-HSA-2172281"
],
"output_participant_list": [
"R-HSA-2470858"
],
"enzyme_list": [
"P39900-1",
"P07858-1",
"P07711-1",
"P14780-1",
"P43235-1",
"P45452-1",
"P09237-1",
"P08254-1",
"O60882-1"
],
"evidence": [
{
"id": "R-HSA-2168923",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2168923"
}
]
},
{
"id": "R-HSA-2213200",
"name": "Release of endostatin-like peptides",
"equation": "",
"summary": "Collagens XV and XVIII are basement membrane associated collagens that can be cleaved to generate the antiangiogenic peptides restin (endostatin-XV) and endostatin (endostatin-XVIII), respectively (O'Reilly et al. 1997, Ramachandran et al. 1997, Sasaki et al. 2000). Endostatin fragments of differing molecular size (14-30 kDa) have been identified in vivo. Furthermore the C-terminal domains of several other collagens (IV, VIII, XIX) have anti-angiogenic and anti-tumoral activities (Ricard-Blum & Ballut 2011). Several proteases are able to generate endostatin from collagen XVIII including MMP-3, -7, -9, -13 and -20 and cathepsins B, V, S and L (Heljasvaara et al. 2005, Ma et al. 2007, Veillard et al. 2011). Endostatin inhibits proliferation of endothelial cells, angiogenesis and tumor growth in vivo (O'Reilly et al. 1997).",
"cellular_location": "extracellular region",
"input_participant_list": [
"R-HSA-2152295"
],
"output_participant_list": [
"R-HSA-2225571",
"R-HSA-2225572",
"R-HSA-2225575",
"R-HSA-2225576"
],
"enzyme_list": [
"P07858-1",
"P07711-1",
"P14780-1",
"O60911-1",
"P25774-1",
"P45452-1",
"P09237-1",
"P08254-1",
"O60882-1"
],
"evidence": [
{
"id": "R-HSA-2213200",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2213200"
}
]
}
],
"reaction_participants": [
{
"participant_id": "R-HSA-2152295",
"participant_name": "Collagen type XVIII [extracellular region]",
"crossref": [
{
"id": "CPX-1759",
"database": "ComplexPortal",
"url": ""
}
]
},
{
"participant_id": "R-HSA-216001",
"participant_name": "Laminin-332 [extracellular region]",
"crossref": [
{
"id": "CPX-3165",
"database": "ComplexPortal",
"url": ""
},
{
"id": "CPX-1774",
"database": "ComplexPortal",
"url": ""
}
]
},
{
"participant_id": "R-HSA-2172281",
"participant_name": "Collagen type XVIII multimer [extracellular region]",
"crossref": [
{
"id": "36080",
"database": "ChEBI",
"url": ""
}
]
},
{
"participant_id": "R-HSA-2225571",
"participant_name": "COL15A1(?-1211) [extracellular region]",
"crossref": [
{
"id": "ENST00000375001",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000364140",
"database": "Ensembl",
"url": ""
},
{
"id": "3N3F",
"database": "PDB",
"url": ""
},
{
"id": "P39059",
"database": "Pharos - Targets",
"url": ""
},
{
"id": "ENSG00000204291-COL15A1",
"database": "HPA",
"url": ""
},
{
"id": "P39059",
"database": "UniProt",
"url": ""
},
{
"id": "P39059",
"database": "PRO",
"url": ""
},
{
"id": "NP_001846.3",
"database": "RefSeq",
"url": ""
},
{
"id": "ENSG00000204291",
"database": "OpenTargets",
"url": ""
},
{
"id": "ENSG00000204291",
"database": "Ensembl",
"url": ""
},
{
"id": "P39059",
"database": "GeneCards",
"url": ""
},
{
"id": "XP_011516516.1",
"database": "RefSeq",
"url": ""
}
]
},
{
"participant_id": "R-HSA-2225572",
"participant_name": "COL15A1(1212-1388) [extracellular region]",
"crossref": [
{
"id": "ENSG00000204291",
"database": "Ensembl",
"url": ""
},
{
"id": "XP_011516516.1",
"database": "RefSeq",
"url": ""
},
{
"id": "P39059",
"database": "GeneCards",
"url": ""
},
{
"id": "P39059",
"database": "PRO",
"url": ""
},
{
"id": "NP_001846.3",
"database": "RefSeq",
"url": ""
},
{
"id": "ENSG00000204291",
"database": "OpenTargets",
"url": ""
},
{
"id": "ENSG00000204291-COL15A1",
"database": "HPA",
"url": ""
},
{
"id": "P39059",
"database": "Pharos - Targets",
"url": ""
},
{
"id": "3N3F",
"database": "PDB",
"url": ""
},
{
"id": "P39059",
"database": "UniProt",
"url": ""
},
{
"id": "ENST00000375001",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000364140",
"database": "Ensembl",
"url": ""
}
]
},
{
"participant_id": "R-HSA-2225575",
"participant_name": "COL18A1(1572-11754) [extracellular region]",
"crossref": [
{
"id": "ENSP00000498485",
"database": "Ensembl",
"url": ""
},
{
"id": "P39060",
"database": "PRO",
"url": ""
},
{
"id": "ENSG00000182871-COL18A1",
"database": "HPA",
"url": ""
},
{
"id": "ENST00000651438",
"database": "Ensembl",
"url": ""
},
{
"id": "NP_569711.2",
"database": "RefSeq",
"url": ""
},
{
"id": "3HSH",
"database": "PDB",
"url": ""
},
{
"id": "NP_569712.2",
"database": "RefSeq",
"url": ""
},
{
"id": "ENSG00000182871",
"database": "Ensembl",
"url": ""
},
{
"id": "3HON",
"database": "PDB",
"url": ""
},
{
"id": "P39060",
"database": "GeneCards",
"url": ""
},
{
"id": "P39060",
"database": "UniProt",
"url": ""
},
{
"id": "HMDBP13479",
"database": "HMDB Protein",
"url": ""
},
{
"id": "ENST00000355480",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000352798",
"database": "Ensembl",
"url": ""
},
{
"id": "NP_085059.2",
"database": "RefSeq",
"url": ""
},
{
"id": "P39060",
"database": "Pharos - Targets",
"url": ""
},
{
"id": "15766",
"database": "Orphanet",
"url": ""
},
{
"id": "ENST00000359759",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSG00000182871",
"database": "OpenTargets",
"url": ""
},
{
"id": "ENSP00000347665",
"database": "Ensembl",
"url": ""
},
{
"id": "1BNL",
"database": "PDB",
"url": ""
}
]
},
{
"participant_id": "R-HSA-2225576",
"participant_name": "COL18A1(?-1571) [extracellular region]",
"crossref": [
{
"id": "ENSP00000498485",
"database": "Ensembl",
"url": ""
},
{
"id": "P39060",
"database": "PRO",
"url": ""
},
{
"id": "ENST00000651438",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSG00000182871-COL18A1",
"database": "HPA",
"url": ""
},
{
"id": "NP_569711.2",
"database": "RefSeq",
"url": ""
},
{
"id": "3HSH",
"database": "PDB",
"url": ""
},
{
"id": "NP_569712.2",
"database": "RefSeq",
"url": ""
},
{
"id": "ENSG00000182871",
"database": "Ensembl",
"url": ""
},
{
"id": "3HON",
"database": "PDB",
"url": ""
},
{
"id": "P39060",
"database": "GeneCards",
"url": ""
},
{
"id": "15766",
"database": "Orphanet",
"url": ""
},
{
"id": "ENST00000355480",
"database": "Ensembl",
"url": ""
},
{
"id": "HMDBP13479",
"database": "HMDB Protein",
"url": ""
},
{
"id": "NP_085059.2",
"database": "RefSeq",
"url": ""
},
{
"id": "ENSP00000352798",
"database": "Ensembl",
"url": ""
},
{
"id": "P39060",
"database": "Pharos - Targets",
"url": ""
},
{
"id": "P39060",
"database": "UniProt",
"url": ""
},
{
"id": "ENST00000359759",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSG00000182871",
"database": "OpenTargets",
"url": ""
},
{
"id": "1BNL",
"database": "PDB",
"url": ""
},
{
"id": "ENSP00000347665",
"database": "Ensembl",
"url": ""
}
]
},
{
"participant_id": "R-HSA-2470858",
"participant_name": "Cleaved collagen type XVIII multimer [extracellular region]",
"crossref": [
{
"id": "36080",
"database": "ChEBI",
"url": ""
}
]
},
{
"participant_id": "R-HSA-2533911",
"participant_name": "Cleaved laminin-332 [extracellular region]",
"crossref": [
{
"id": "CPX-1774",
"database": "ComplexPortal",
"url": ""
}
]
}
],
"reaction_enzymes": [
{
"uniprot_ac": "O60882",
"gene_name": "MMP20",
"activity": [
{
"ec_number": "3.4.24.-",
"activity": "",
"evidence": [
{
"id": "O60882",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O60882"
}
]
}
]
},
{
"uniprot_ac": "O60911",
"gene_name": "CTSV",
"activity": [
{
"ec_number": "3.4.22.43",
"activity": "The recombinant enzyme hydrolyzes proteins (serum albumin, collagen) and synthetic substrates (Z-Phe-Arg-NHMec > Z-Leu-Arg-NHMec > Z-Val-Arg-NHMec).",
"evidence": [
{
"id": "O60911",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O60911"
}
]
},
{
"ec_number": "3.4.22.43",
"activity": "",
"evidence": [
{
"id": "O60911",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O60911"
}
]
}
]
},
{
"uniprot_ac": "P00747",
"gene_name": "PLG",
"activity": [
{
"ec_number": "3.4.21.7",
"activity": "Preferential cleavage: Lys-|-Xaa > Arg-|-Xaa, higher selectivity than trypsin. Converts fibrin into soluble products.",
"evidence": [
{
"id": "P00747",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00747"
}
]
},
{
"ec_number": "3.4.21.7",
"activity": "",
"evidence": [
{
"id": "P00747",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00747"
}
]
}
]
},
{
"uniprot_ac": "P03956",
"gene_name": "MMP1",
"activity": [
{
"ec_number": "3.4.24.7",
"activity": "Cleavage of the triple helix of collagen at about three-quarters of the length of the molecule from the N-terminus, at 775-Gly-|-Ile-776 in the alpha1(I) chain. Cleaves synthetic substrates and alpha-macroglobulins at bonds where P1' is a hydrophobic residue.",
"evidence": [
{
"id": "P03956",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P03956"
}
]
},
{
"ec_number": "3.4.24.7",
"activity": "",
"evidence": [
{
"id": "P03956",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P03956"
}
]
}
]
},
{
"uniprot_ac": "P07711",
"gene_name": "CTSL",
"activity": [
{
"ec_number": "3.4.22.15",
"activity": "Specificity close to that of papain. As compared to cathepsin B, cathepsin L exhibits higher activity toward protein substrates, but has little activity on Z-Arg-Arg-NHMec, and no peptidyl-dipeptidase activity.",
"evidence": [
{
"id": "P07711",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P07711"
}
]
},
{
"ec_number": "3.4.22.15",
"activity": "",
"evidence": [
{
"id": "P07711",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P07711"
}
]
}
]
},
{
"uniprot_ac": "P07858",
"gene_name": "CTSB",
"activity": [
{
"ec_number": "3.4.22.1",
"activity": "Hydrolysis of proteins with broad specificity for peptide bonds. Preferentially cleaves -Arg-Arg-|-Xaa bonds in small molecule substrates (thus differing from cathepsin L). In addition to being an endopeptidase, shows peptidyl-dipeptidase activity, liberating C-terminal dipeptides.",
"evidence": [
{
"id": "P07858",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P07858"
}
]
},
{
"ec_number": "3.4.22.1",
"activity": "",
"evidence": [
{
"id": "P07858",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P07858"
}
]
}
]
},
{
"uniprot_ac": "P08253",
"gene_name": "MMP2",
"activity": [
{
"ec_number": "3.4.24.24",
"activity": "Cleavage of gelatin type I and collagen types IV, V, VII, X. Cleaves the collagen-like sequence Pro-Gln-Gly-|-Ile-Ala-Gly-Gln.",
"evidence": [
{
"id": "P08253",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P08253"
}
]
},
{
"ec_number": "3.4.24.24",
"activity": "",
"evidence": [
{
"id": "P08253",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P08253"
}
]
}
]
},
{
"uniprot_ac": "P08254",
"gene_name": "MMP3",
"activity": [
{
"ec_number": "3.4.24.17",
"activity": "Preferential cleavage where P1', P2' and P3' are hydrophobic residues.",
"evidence": [
{
"id": "P08254",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P08254"
}
]
},
{
"ec_number": "3.4.24.17",
"activity": "",
"evidence": [
{
"id": "P08254",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P08254"
}
]
}
]
},
{
"uniprot_ac": "P09237",
"gene_name": "MMP7",
"activity": [
{
"ec_number": "3.4.24.23",
"activity": "Cleavage of 14-Ala-|-Leu-15 and 16-Tyr-|-Leu-17 in B chain of insulin. No action on collagen types I, II, IV, V. Cleaves gelatin chain alpha2(I) > alpha1(I).",
"evidence": [
{
"id": "P09237",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P09237"
}
]
},
{
"ec_number": "3.4.24.23",
"activity": "",
"evidence": [
{
"id": "P09237",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P09237"
}
]
}
]
},
{
"uniprot_ac": "P09238",
"gene_name": "MMP10",
"activity": [
{
"ec_number": "3.4.24.22",
"activity": "Similar to stromelysin 1, but action on collagen types III, IV and V is weak.",
"evidence": [
{
"id": "P09238",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P09238"
}
]
},
{
"ec_number": "3.4.24.22",
"activity": "",
"evidence": [
{
"id": "P09238",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P09238"
}
]
}
]
},
{
"uniprot_ac": "P13497",
"gene_name": "BMP1",
"activity": [
{
"ec_number": "3.4.24.19",
"activity": "Cleavage of the C-terminal propeptide at Ala-|-Asp in type I and II procollagens and at Arg-|-Asp in type III.",
"evidence": [
{
"id": "P13497",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P13497"
}
]
},
{
"ec_number": "3.4.24.19",
"activity": "",
"evidence": [
{
"id": "P13497",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P13497"
}
]
},
{
"ec_number": "3.4.24.-",
"activity": "",
"evidence": [
{
"id": "P13497",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P13497"
}
]
}
]
},
{
"uniprot_ac": "P14780",
"gene_name": "MMP9",
"activity": [
{
"ec_number": "3.4.24.35",
"activity": "Cleavage of gelatin types I and V and collagen types IV and V.",
"evidence": [
{
"id": "P14780",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P14780"
}
]
},
{
"ec_number": "3.4.24.35",
"activity": "",
"evidence": [
{
"id": "P14780",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P14780"
}
]
}
]
},
{
"uniprot_ac": "P22894",
"gene_name": "MMP8",
"activity": [
{
"ec_number": "3.4.24.34",
"activity": "Cleavage of interstitial collagens in the triple helical domain. Unlike EC 3.4.24.7, this enzyme cleaves type III collagen more slowly than type I.",
"evidence": [
{
"id": "P22894",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P22894"
}
]
},
{
"ec_number": "3.4.24.34",
"activity": "",
"evidence": [
{
"id": "P22894",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P22894"
}
]
}
]
},
{
"uniprot_ac": "P24347",
"gene_name": "MMP11",
"activity": [
{
"ec_number": "3.4.24.-",
"activity": "",
"evidence": [
{
"id": "P24347",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P24347"
}
]
}
]
},
{
"uniprot_ac": "P25774",
"gene_name": "CTSS",
"activity": [
{
"ec_number": "3.4.22.27",
"activity": "Similar to cathepsin L, but with much less activity on Z-Phe-Arg-|-NHMec, and more activity on the Z-Val-Val-Arg-|-Xaa compound.",
"evidence": [
{
"id": "P25774",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P25774"
}
]
},
{
"ec_number": "3.4.22.27",
"activity": "",
"evidence": [
{
"id": "P25774",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P25774"
}
]
}
]
},
{
"uniprot_ac": "P39900",
"gene_name": "MMP12",
"activity": [
{
"ec_number": "3.4.24.65",
"activity": "Hydrolysis of soluble and insoluble elastin. Specific cleavages are also produced at 14-Ala-|-Leu-15 and 16-Tyr-|-Leu-17 in the B chain of insulin.",
"evidence": [
{
"id": "P39900",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P39900"
}
]
},
{
"ec_number": "3.4.24.65",
"activity": "",
"evidence": [
{
"id": "P39900",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P39900"
}
]
}
]
},
{
"uniprot_ac": "P43235",
"gene_name": "CTSK",
"activity": [
{
"ec_number": "3.4.22.38",
"activity": "Broad proteolytic activity. With small-molecule substrates and inhibitors, the major determinant of specificity is P2, which is preferably Leu, Met > Phe, and not Arg.",
"evidence": [
{
"id": "P43235",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P43235"
}
]
},
{
"ec_number": "3.4.22.38",
"activity": "",
"evidence": [
{
"id": "P43235",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P43235"
}
]
}
]
},
{
"uniprot_ac": "P45452",
"gene_name": "MMP13",
"activity": [
{
"ec_number": "3.4.24.-",
"activity": "",
"evidence": [
{
"id": "P45452",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P45452"
}
]
}
]
},
{
"uniprot_ac": "Q99542",
"gene_name": "MMP19",
"activity": [
{
"ec_number": "3.4.24.-",
"activity": "",
"evidence": [
{
"id": "Q99542",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q99542"
}
]
}
]
}
],
"biomarkers": [],
"synthesized_glycans": [],
"cluster_types": [
{
"name": "homologset.mgi",
"label": "MGI Homologs"
},
{
"name": "homologset.oma",
"label": "OMA Homologs"
}
],
"sequence_features": {
"n_linked_sites": [],
"o_linked_sites": [
67
],
"snv_sites": [
68,
236,
275,
281,
464
],
"glycation_sites": [],
"phosphorylation_sites": [],
"sequon_annotation_sites": []
},
"section_stats": [
{
"table_id": "glycosylation",
"table_stats": [
{
"field": "total",
"count": 1
},
{
"field": "total_sites",
"count": 1
},
{
"field": "n_linked_glycans",
"count": 0
},
{
"field": "n_linked_glycan_sites",
"count": 0
},
{
"field": "o_linked_glycans",
"count": 1
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"field": "o_linked_glycan_sites",
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],
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"sort_fields": []
},
{
"table_id": "glycosylation_reported_with_glycan",
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},
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"table_id": "glycosylation_predicted",
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],
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},
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"table_id": "glycosylation_automatic_literature_mining",
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"table_id": "phosphorylation",
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],
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},
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}