{
"uniprot_canonical_ac": "P13497-1",
"uniprot_ac": "P13497",
"uniprot_id": "BMP1_HUMAN",
"mass": {
"chemical_mass": 111249.0,
"monoisotopic_mass": 111249.0
},
"refseq": {
"ac": "NP_001190",
"name": "bone morphogenetic protein 1 isoform 1 precursor",
"summary": "This gene encodes a protein that is capable of inducing formation of cartilage in vivo. Although other bone morphogenetic proteins are members of the TGF-beta superfamily, this gene encodes a protein that is not closely related to other known growth factors. This gene is expressed as alternatively spliced variants that share an N-terminal protease domain but differ in their C-terminal region. [provided by RefSeq, Aug 2008].",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001190"
},
"gene_names": [
{
"name": "BMP1",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/P13497",
"id": "P13497"
},
{
"name": "BMP1",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001190",
"id": "NP_001190"
},
{
"name": "OI13; PCOLC; PCP; PCP2; TLD",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001190",
"id": "NP_001190"
},
{
"name": "PCOLC",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/P13497",
"id": "P13497"
}
],
"protein_names": [
{
"name": "Bone morphogenetic protein 1",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "P13497"
},
{
"name": "3.4.24.19",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P13497"
},
{
"name": "BMP-1",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P13497"
},
{
"name": "Mammalian tolloid protein",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P13497"
},
{
"name": "PCP",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P13497"
},
{
"name": "Procollagen C-proteinase",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P13497"
},
{
"name": "bone morphogenetic protein 1 isoform 1 precursor",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001190",
"id": "NP_001190"
},
{
"name": "mTld",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P13497"
},
{
"name": "procollagen C-endopeptidase; tolloid-like; mammalian tolloid protein; procollagen C-proteinase 3",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001190",
"id": "NP_001190"
}
],
"function": [
{
"annotation": "Bone morphogenetic protein and cancer in spinal fusion: a propensity score-matched analysis. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001190",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001190"
},
{
"database": "PubMed",
"id": "37657115",
"url": "https://glygen.org/publication/PubMed/37657115"
}
]
},
{
"annotation": "Bone morphogenetic protein signaling is a possible therapeutic target in gynecologic cancer. Review article",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001190",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001190"
},
{
"database": "PubMed",
"id": "36468782",
"url": "https://glygen.org/publication/PubMed/36468782"
}
]
},
{
"annotation": "Metalloprotease that plays key roles in regulating the formation of the extracellular matrix (ECM) via processing of various precursor proteins into mature functional enzymes or structural proteins (PubMed:33206546). Thereby participates in several developmental and physiological processes such as cartilage and bone formation, muscle growth and homeostasis, wound healing and tissue repair (PubMed:33169406, PubMed:32636307). Roles in ECM formation include cleavage of the C-terminal propeptides from procollagens such as procollagen I, II and III or the proteolytic activation of the enzyme lysyl oxidase LOX, necessary to formation of covalent cross-links in collagen and elastic fibers (PubMed:31152061, PubMed:33206546). Additional substrates include matricellular thrombospondin-1/THBS1 whose cleavage leads to cell adhesion disruption and TGF-beta activation (PubMed:32636307).",
"evidence": [
{
"database": "UniProtKB",
"id": "P13497",
"url": "https://www.uniprot.org/uniprot/P13497#function"
},
{
"database": "PubMed",
"id": "31152061",
"url": "https://glygen.org/publication/PubMed/31152061"
},
{
"database": "PubMed",
"id": "32636307",
"url": "https://glygen.org/publication/PubMed/32636307"
},
{
"database": "PubMed",
"id": "33206546",
"url": "https://glygen.org/publication/PubMed/33206546"
},
{
"database": "PubMed",
"id": "33169406",
"url": "https://glygen.org/publication/PubMed/33169406"
}
]
},
{
"annotation": "Plays an important role in bone repair by acting as a coactivator of BMP7.",
"evidence": [
{
"database": "UniProtKB",
"id": "P13497",
"url": "https://www.uniprot.org/uniprot/P13497#function"
},
{
"database": "PubMed",
"id": "21453682",
"url": "https://glygen.org/publication/PubMed/21453682"
}
]
},
{
"annotation": "Proteolysis of the low-density lipoprotein receptor in hepatocytes is mediated by BMP1 but not by other astacin proteases.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001190",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001190"
},
{
"database": "PubMed",
"id": "37235726",
"url": "https://glygen.org/publication/PubMed/37235726"
}
]
},
{
"annotation": "The role of stromal BMP/CXCL12 signaling axis in serrated polyp development.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001190",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001190"
},
{
"database": "PubMed",
"id": "36899173",
"url": "https://glygen.org/publication/PubMed/36899173"
}
]
},
{
"annotation": "This gene encodes a protein that is capable of inducing formation of cartilage in vivo. Although other bone morphogenetic proteins are members of the TGF-beta superfamily, this gene encodes a protein that is not closely related to other known growth factors. This gene is expressed as alternatively spliced variants that share an N-terminal protease domain but differ in their C-terminal region. [provided by RefSeq, Aug 2008].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001190",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001190"
}
]
}
],
"disease": [
{
"disease_id": "DOID:0110342",
"recommended_name": {
"id": "DOID:0110342",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0110342",
"name": "osteogenesis imperfecta type 13",
"description": "An osteogenesis imperfecta that has_material_basis_in mutation in the BMP1 gene on chromosome 8p21."
},
"synonyms": [
{
"id": "DOID:0110342",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0110342",
"name": "OI13",
"description": ""
},
{
"id": "DOID:0110342",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0110342",
"name": "osteogenesis imperfecta type XIII",
"description": ""
},
{
"id": "MONDO:0013924",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013924",
"name": "osteogenesis imperfecta type 13",
"description": "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the BMP1 gene."
},
{
"id": "MONDO:0013924",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013924",
"name": "BMP1 osteogenesis imperfecta",
"description": ""
},
{
"id": "MONDO:0013924",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013924",
"name": "OI13",
"description": ""
},
{
"id": "MONDO:0013924",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013924",
"name": "osteogenesis imperfecta caused by mutation in BMP1",
"description": ""
},
{
"id": "MONDO:0013924",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013924",
"name": "osteogenesis imperfecta type XIII",
"description": ""
},
{
"id": "MONDO:0013924",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013924",
"name": "OI, type 13",
"description": ""
},
{
"id": "MONDO:0013924",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013924",
"name": "osteogenesis imperfecta, type 13",
"description": ""
},
{
"id": "MONDO:0013924",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013924",
"name": "osteogenesis imperfecta, type XIII",
"description": ""
},
{
"id": "MIM:614856",
"resource": "MIM",
"url": "https://www.omim.org/entry/614856",
"name": "Osteogenesis imperfecta 13",
"description": "Osteogenesis imperfecta 13"
}
],
"evidence": [
{
"id": "614856",
"database": "MIM",
"url": "https://www.omim.org/entry/614856"
}
]
}
],
"snv": [
{
"evidence": [
{
"id": "rs1206381427",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1206381427"
},
{
"id": "rs1206381427",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs1206381427"
}
],
"glycoeffect": [
"n-glyco-sequon-loss",
"o-glyco-site-loss"
],
"start_pos": 144,
"end_pos": 144,
"sequence_org": "T",
"sequence_mut": "P",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFT->NFP).",
"chr_id": "8",
"chr_pos": "22176310",
"ref_nt": "C",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "T144",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs755501101",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755501101"
},
{
"id": "rs755501101",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755501101"
},
{
"id": "rs755501101",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs755501101"
}
],
"glycoeffect": [
"n-glyco-sequon-loss",
"o-glyco-site-loss"
],
"start_pos": 334,
"end_pos": 334,
"sequence_org": "S",
"sequence_mut": "F",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFS->NFF).",
"chr_id": "8",
"chr_pos": "22180407",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "S334",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs748093647",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748093647"
},
{
"id": "rs748093647",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748093647"
},
{
"id": "rs748093647",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs748093647"
}
],
"glycoeffect": [
"n-glyco-sequon-loss",
"o-glyco-site-loss"
],
"start_pos": 365,
"end_pos": 365,
"sequence_org": "T",
"sequence_mut": "M",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFT->NFM).",
"chr_id": "8",
"chr_pos": "22192065",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "T365",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs778329734",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778329734"
},
{
"id": "rs778329734",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778329734"
},
{
"id": "rs778329734",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs778329734"
}
],
"glycoeffect": [
"n-glyco-sequon-gain",
"o-glyco-site-loss"
],
"start_pos": 502,
"end_pos": 502,
"sequence_org": "S",
"sequence_mut": "N",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SST->NST).",
"chr_id": "8",
"chr_pos": "22194785",
"ref_nt": "A",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "S502",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "P13497",
"database": "BioMuta",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P13497"
}
],
"glycoeffect": [
"o-glyco-site-loss"
],
"start_pos": 569,
"end_pos": 569,
"subjects_tested": "0",
"subjects_positive": "0",
"frequency": "0.0",
"sequence_org": "S",
"sequence_mut": "I",
"comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (S->I).",
"chr_id": "8",
"chr_pos": "22195528",
"ref_nt": "G",
"alt_nt": "T",
"minor_allelic_frequency": "",
"site_lbl": "S569",
"disease": [
{
"disease_id": "DOID:1319",
"recommended_name": {
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "brain cancer",
"description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain."
},
"synonyms": [
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "BT - Brain tumour",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "adult brain tumor",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "adult malignant brain neoplasm",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "brain neoplasm",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "brain neoplasm, adult",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "malignant brain tumour",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "malignant primary brain neoplasm",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "malignant primary brain tumor",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "malignant tumor of Brain",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "malignant tumor of adult brain",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "neoplasm of brain",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "primary brain neoplasm",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "primary brain tumor",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "primary malignant neoplasm of brain",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "tumor of the Brain",
"description": ""
}
]
}
],
"keywords": [
"biomuta",
"somatic",
"cancer",
"disease"
]
},
{
"evidence": [
{
"id": "rs770858434",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770858434"
},
{
"id": "rs770858434",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770858434"
},
{
"id": "rs770858434",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs770858434"
}
],
"glycoeffect": [
"n-glyco-sequon-loss"
],
"start_pos": 599,
"end_pos": 599,
"sequence_org": "N",
"sequence_mut": "S",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->SGS).",
"chr_id": "8",
"chr_pos": "22196710",
"ref_nt": "G",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "N599",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "P13497",
"database": "BioMuta",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P13497"
}
],
"glycoeffect": [
"n-glyco-sequon-loss",
"o-glyco-site-loss"
],
"start_pos": 601,
"end_pos": 601,
"subjects_tested": "0",
"subjects_positive": "0",
"frequency": "0.0",
"sequence_org": "S",
"sequence_mut": "C",
"comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NGS->NGC).",
"chr_id": "8",
"chr_pos": "22196716",
"ref_nt": "C",
"alt_nt": "G",
"minor_allelic_frequency": "",
"site_lbl": "S601",
"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",
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},
{
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},
{
"id": "MONDO:0008903",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, somatic",
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},
{
"id": "MONDO:0008903",
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"url": "https://monarchinitiative.org/disease/MONDO:0008903",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
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"description": ""
},
{
"id": "MONDO:0008903",
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"name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, somatic",
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},
{
"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",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumor",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
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},
{
"id": "MONDO:0008903",
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"url": "https://monarchinitiative.org/disease/MONDO:0008903",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
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},
{
"id": "MONDO:0008903",
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"url": "https://monarchinitiative.org/disease/MONDO:0008903",
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},
{
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},
{
"id": "MONDO:0008903",
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},
{
"id": "MONDO:0008903",
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},
{
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"url": "https://monarchinitiative.org/disease/MONDO:0008903",
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},
{
"id": "MONDO:0008903",
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},
{
"id": "MONDO:0008903",
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"url": "https://monarchinitiative.org/disease/MONDO:0008903",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
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"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
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{
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{
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{
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{
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{
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{
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{
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{
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},
{
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},
{
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{
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{
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{
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},
{
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},
{
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{
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{
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},
{
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{
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{
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{
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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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"resource": "Disease Ontology",
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},
{
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"resource": "Disease Ontology",
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}
]
}
],
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},
{
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{
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],
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"end_pos": 885,
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"chr_pos": "22209522",
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"alt_nt": "null",
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"site_lbl": "P885",
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},
{
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{
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},
{
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{
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],
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"start_pos": 929,
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},
{
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{
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{
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],
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"end_pos": 92,
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],
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{
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"end_pos": 120,
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"sequence_mut": "AA",
"comment": "Doesn't abolish secretion.",
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{
"database": "UniProtKB",
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},
{
"database": "PubMed",
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]
}
],
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{
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},
{
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},
{
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},
{
"tissue": {
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"present": "HIGH",
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]
},
{
"tissue": {
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"score": "91.75",
"present": "HIGH",
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]
},
{
"tissue": {
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},
{
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]
},
{
"tissue": {
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"present": "HIGH",
"evidence": [
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"id": "ENSG00000168487",
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}
]
},
{
"tissue": {
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"score": "89.99",
"present": "HIGH",
"evidence": [
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]
},
{
"tissue": {
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"url": "http://purl.obolibrary.org/obo/UBERON_0002048"
},
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"present": "MEDIUM",
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"id": "ENSG00000168487",
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}
]
},
{
"tissue": {
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"id": "0002107",
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},
"score": "84.5",
"present": "HIGH",
"evidence": [
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"id": "ENSG00000168487",
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}
]
},
{
"tissue": {
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"id": "0002367",
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},
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"present": "HIGH",
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"id": "ENSG00000168487",
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]
},
{
"tissue": {
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"url": "https://bgee.org/?page=gene&gene_id=ENSG00000168487"
}
]
}
],
"expression_disease": [
{
"significant": "Yes",
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"name": "Prostate cancer [DO disease name]",
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{
"database": "BioXpress",
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],
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{
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"resource": "Disease Ontology",
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"name": "prostate cancer",
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},
"synonyms": [
{
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"resource": "Disease Ontology",
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},
{
"id": "DOID:10283",
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},
{
"id": "DOID:10283",
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},
{
"id": "DOID:10283",
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"name": "prostate cancer, familial",
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},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
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},
{
"id": "DOID:10283",
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"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostatic cancer",
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},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
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},
{
"id": "DOID:10283",
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"name": "tumor of the prostate",
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},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, 9",
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},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, 9",
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},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
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},
{
"id": "MONDO:0012597",
"resource": "MONDO",
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},
{
"id": "MONDO:0012741",
"resource": "MONDO",
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"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",
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},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, type 12",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "HPC12",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, type 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "HPC5",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, type 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, susceptibility to, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "HPC3",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, type 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, susceptibility to, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "HPC4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, on chromosome 7",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene."
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "MSMB familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "familial prostate cancer caused by mutation in MSMB",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, type 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "HPC13",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, type 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "HPC8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "predisposing for prostate cancer",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, type 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "HPC6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "HPC10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate carcinoma",
"description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma."
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate carcinoma",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, somatic",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, hereditary",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "HPC7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer aggressiveness",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene."
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "RNASEL familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "familial prostate cancer caused by mutation in RNASEL",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, type 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "HPC1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "Prca1",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "HPC11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "HPC14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "HPC15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "HPCX1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer susceptibility, X-linked",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "HPCX2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MIM:611868",
"resource": "MIM",
"url": "https://www.omim.org/entry/611868",
"name": "Prostate cancer, hereditary, 12",
"description": "Prostate cancer, hereditary, 12"
},
{
"id": "MIM:611928",
"resource": "MIM",
"url": "https://www.omim.org/entry/611928",
"name": "Prostate cancer, hereditary, 13",
"description": "Prostate cancer, hereditary, 13"
},
{
"id": "MIM:176807",
"resource": "MIM",
"url": "https://www.omim.org/entry/176807",
"name": "Prostate cancer",
"description": "Prostate cancer"
},
{
"id": "MIM:601518",
"resource": "MIM",
"url": "https://www.omim.org/entry/601518",
"name": "Prostate cancer, hereditary, 1",
"description": "Prostate cancer, hereditary, 1"
},
{
"id": "MIM:611955",
"resource": "MIM",
"url": "https://www.omim.org/entry/611955",
"name": "Prostate cancer, hereditary, 11",
"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": "P13497",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13497"
}
],
"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",
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},
"synonyms": [
{
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"name": "gastric cancer",
"description": ""
},
{
"id": "DOID:10534",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10534",
"name": "gastric neoplasm",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
"description": "A primary or metastatic malignant neoplasm involving the stomach."
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "Ca lesser curvature - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "cancer of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer risk after h. pylori infection",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric tumor",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric tumour",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant stomach neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of greater curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of greater curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "stomach cancer",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "Ca body - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "ca greater curvature of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, intestinal",
"description": ""
},
{
"id": "MIM:613659",
"resource": "MIM",
"url": "https://www.omim.org/entry/613659",
"name": "Gastric cancer",
"description": "Gastric cancer"
}
]
}
]
},
{
"significant": "No",
"trend": "up",
"name": "Urinary bladder cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11054",
"evidence": [
{
"database": "BioXpress",
"id": "P13497",
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}
],
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{
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},
"synonyms": [
{
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"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",
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{
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"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13497"
}
],
"disease": [
{
"disease_id": "DOID:11934",
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"name": "head and neck cancer",
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},
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},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck tumours",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head/neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "tumor of head and neck",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Lung cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1324",
"evidence": [
{
"database": "BioXpress",
"id": "P13497",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13497"
}
],
"disease": [
{
"disease_id": "DOID:1324",
"recommended_name": {
"id": "DOID:1324",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1324",
"name": "lung cancer",
"description": "A respiratory system cancer that is located_in the lung."
},
"synonyms": [
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "LNCR1",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "LNCR3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "adenocarcinoma of lung, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "LNCR4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "LNCR5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": "A malignant neoplasm involving the lung."
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "cancer of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung neoplasm",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumor",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumour",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "Nonsmall cell lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "alveolar cell carcinoma",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung neoplasm",
"description": ""
},
{
"id": "MIM:211980",
"resource": "MIM",
"url": "https://www.omim.org/entry/211980",
"name": "Lung cancer",
"description": "Lung cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Breast cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1612",
"evidence": [
{
"database": "BioXpress",
"id": "P13497",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13497"
}
],
"disease": [
{
"disease_id": "DOID:1612",
"recommended_name": {
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "breast cancer",
"description": "A thoracic cancer that originates in the mammary gland."
},
"synonyms": [
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "breast tumor",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "malignant neoplasm of breast",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "malignant tumor of the breast",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "mammary cancer",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "mammary tumor",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "primary breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast carcinoma",
"description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma."
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer susceptibility, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, lobular, somatic",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, somatic",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial breast carcinoma",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial cancer of breast",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial cancer of the breast",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast carcinoma",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, familial",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, familial Male",
"description": ""
},
{
"id": "MIM:114480",
"resource": "MIM",
"url": "https://www.omim.org/entry/114480",
"name": "Breast cancer",
"description": "Breast cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Thyroid cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1781",
"evidence": [
{
"database": "BioXpress",
"id": "P13497",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13497"
}
],
"disease": [
{
"disease_id": "DOID:1781",
"recommended_name": {
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "thyroid cancer",
"description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage."
},
"synonyms": [
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "thyroid gland cancer",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "Thyroid gland neoplasm",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "malignant neoplasm of thyroid gland",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "malignant tumour of thyroid gland",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "neoplasm of thyroid gland",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "thyroid neoplasm",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Kidney cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:263",
"evidence": [
{
"database": "BioXpress",
"id": "P13497",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13497"
}
],
"disease": [
{
"disease_id": "DOID:263",
"recommended_name": {
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "kidney cancer",
"description": "A urinary system cancer that is located_in the kidney."
},
"synonyms": [
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "malignant neoplasm of kidney except pelvis",
"description": ""
},
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "malignant tumour of kidney",
"description": ""
},
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "renal cancer",
"description": ""
}
]
}
]
},
{
"significant": "No",
"trend": "down",
"name": "Liver cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:3571",
"evidence": [
{
"database": "BioXpress",
"id": "P13497",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13497"
}
],
"disease": [
{
"disease_id": "DOID:3571",
"recommended_name": {
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "liver cancer",
"description": "A hepatobiliary system cancer that is located_in the liver."
},
"synonyms": [
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "Ca liver - primary",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "Resectable malignant neoplasm of Liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "hepatic cancer",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "hepatic neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant hepato-biliary neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver, primary",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant tumor of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "non-resectable primary hepatic malignant neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "primary liver cancer",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "primary malignant neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "resectable malignant neoplasm of the liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver, not specified as primary or secondary",
"description": ""
}
]
}
]
},
{
"significant": "No",
"trend": "down",
"name": "Uterine cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:363",
"evidence": [
{
"database": "BioXpress",
"id": "P13497",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13497"
}
],
"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": ""
},
{
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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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"length": 986,
"header": "sp|P13497-1|BMP1_HUMAN Isoform 1 of Bone morphogenetic protein 1 OS=Homo sapiens OX=9606 GN=BMP1 PE=1 SV=2 CANONICAL=P13497-1"
},
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"header": "tr|B7ZKR5-1|B7ZKR5_HUMAN Computationally mapped isoform of BMP1 protein OS=Homo sapiens OX=9606 GN=BMP1 PE=1 SV=1 CANONICAL=P13497-1"
},
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{
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"header": "tr|E5RH22-1|E5RH22_HUMAN Computationally mapped isoform of Bone morphogenetic protein 1 OS=Homo sapiens OX=9606 GN=BMP1 PE=4 SV=2 CANONICAL=P13497-1"
},
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{
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]
}
},
{
"isoform_ac": "P13497-1",
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"length": 986,
"header": "sp|P13497-1|BMP1_HUMAN Isoform 1 of Bone morphogenetic protein 1 OS=Homo sapiens OX=9606 GN=BMP1 PE=1 SV=2 CANONICAL=P13497-1"
},
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{
"database": "Ensembl Peptide",
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}
},
{
"isoform_ac": "P13497-2",
"url": "",
"sequence": {
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"length": 730,
"header": "sp|P13497-2|BMP1_HUMAN Isoform 2 of Bone morphogenetic protein 1 OS=Homo sapiens OX=9606 GN=BMP1 PE=1 SV=2 CANONICAL=P13497-1"
},
"locus": {
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"start_pos": 22201200,
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"strand": "-",
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"title": "Fibrillin degradation by matrix metalloproteinases: implications for connective tissue remodelling.",
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{
"title": "Fibrillin degradation by matrix metalloproteinases: identification of amino- and carboxy-terminal cleavage sites.",
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"title": "Mammalian BMP-1/Tolloid-related metalloproteinases, including novel family member mammalian Tolloid-like 2, have differential enzymatic activities and distributions of expression relevant to patterning and skeletogenesis.",
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"title": "EMMPRIN (CD147), an inducer of matrix metalloproteinase synthesis, also binds interstitial collagenase to the tumor cell surface.",
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"title": "Biochemical characterization of the catalytic domain of human matrix metalloproteinase 19. Evidence for a role as a potent basement membrane degrading enzyme.",
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"url": "https://glygen.org/publication/PubMed/9500680"
}
]
},
{
"title": "Protein disulfide isomerase acts as a molecular chaperone during the assembly of procollagen.",
"journal": "The Journal of biological chemistry",
"date": "1998",
"authors": "Wilson R, Lees JF, Bulleid NJ",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-1650814",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814"
}
],
"reference": [
{
"type": "PubMed",
"id": "9545296",
"url": "https://glygen.org/publication/PubMed/9545296"
}
]
},
{
"title": "Thiol-independent interaction of protein disulphide isomerase with type X collagen during intra-cellular folding and assembly.",
"journal": "The Biochemical journal",
"date": "1998",
"authors": "McLaughlin SH, Bulleid NJ",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-1650814",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814"
}
],
"reference": [
{
"type": "PubMed",
"id": "9560306",
"url": "https://glygen.org/publication/PubMed/9560306"
}
]
},
{
"title": "Primary structure, tissue distribution, and chromosomal localization of a novel isoform of lysyl hydroxylase (lysyl hydroxylase 3)",
"journal": "The Journal of biological chemistry",
"date": "1998",
"authors": "Valtavaara M, Szpirer C, Szpirer J, Myllyla R",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-1650814",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814"
}
],
"reference": [
{
"type": "PubMed",
"id": "9582318",
"url": "https://glygen.org/publication/PubMed/9582318"
}
]
},
{
"title": "Human HtrA, an evolutionarily conserved serine protease identified as a differentially expressed gene product in osteoarthritic cartilage.",
"journal": "The Journal of biological chemistry",
"date": "1998",
"authors": "Hu SI, Carozza M, Klein M, Nantermet P, Luk D, Crowl RM",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-1474228",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1474228"
}
],
"reference": [
{
"type": "PubMed",
"id": "9852107",
"url": "https://glygen.org/publication/PubMed/9852107"
}
]
}
],
"pathway": [
{
"id": "hsa:649",
"name": "",
"url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:649",
"resource": "KEGG Pathway"
},
{
"id": "R-HSA-1474228",
"name": "Degradation of the extracellular matrix",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1474228",
"resource": "Reactome",
"description": "Degradation of the extracellular matrix"
},
{
"id": "R-HSA-1650814",
"name": "Collagen biosynthesis and modifying enzymes",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814",
"resource": "Reactome",
"description": "Collagen biosynthesis and modifying enzymes"
},
{
"id": "R-HSA-2214320",
"name": "Anchoring fibril formation",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2214320",
"resource": "Reactome",
"description": "Anchoring fibril formation"
},
{
"id": "R-HSA-2243919",
"name": "Crosslinking of collagen fibrils",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2243919",
"resource": "Reactome",
"description": "Crosslinking of collagen fibrils"
}
],
"orthologs": [
{
"uniprot_canonical_ac": "F1M798-1",
"protein_name": "Metalloendopeptidase",
"gene_name": "Bmp1",
"tax_id": 10116,
"organism": "Rattus norvegicus",
"sequence": {
"sequence": "MPGVARPPLPLLSLPLLLLLLLPRAGRPLDLADYTYDLGEEDAPELLNYKDPCKAAAFLGDIALDEEDLRAFRVQQAAVLRQQTAQRSSIKAAGNSSALGRQSTSGQPQRGSRGRWRSRPRSRRAATSRPERVWPDGVIPFVIGGNFTGSQRAVFRQAMRHWEKHTCVTFLERTDEDSYIVFTYRPCGCCSYVGRRGGGPQAISIGKNCDKFGIVVHELGHVIGFWHEHTRPDRDRHVSIVRENIQPGQEYNFLKMEVQEVESLGETYDFDSIMHYARNTFSRGIFLDTIVPKYEVNGVKPSIGQRTRLSKGDIAQARKLYKCPACGETLQDSTGNFSSPEYPNGYSAHMHCVWRISVTPGEKIILNFTSMDLYRSRLCWYDYVEVRDGFWRKAPLRGRFCGGKLPEPIVSTDSRLWVEFRSSSNWVGKGFFAVYEAICGGDVKKDNGHIQSPNYPDDYRPSKVCIWRIQVSEGFHVGLTFQSFEIERHDSCAYDYLEVRDGHSESSNLIGRYCGYEKPDDIKSTSSRLWLKFVSDGSINKAGFAVNFFKEVDECSRPNRGGCEQRCLNTLGSYKCSCDPGYELAPDKRRCEAACGGFLTKLNGSITSPGWPKEYPPNKNCIWQLVAPTQYRISLQFDFFETEGNDVCKYDFVEVRSGLTADSKLHGKFCGSEKPEVITSQYNNMRVEFKSDNTVSKKGFKAHFFSDKDECSKDNGGCQQDCVNTFGSYECQCRSGFVLHDNKHDCKEAGCEHKVTSTSGTITSPNWPDKYPSKKECTWAISSTPGHRVKLTFVEMDIESQPECAYDHLEVFDGRDAKAPVLGRFCGSKKPEPVLATGNRMFLRFYSDNSVQRKGFQASHSTECGGQVRADVKTKDLYSHAQFGDNNYPGGVDCEWVIVAEEGYGVELVFQTFEVEEETDCGYDYMELFDGYDSTAPRLGRYCGSGPPEEVYSAGDSVLVKFHSDDTISKKGFHLRYTSTKFQDTLHSRK",
"length": 990
},
"evidence": [
{
"id": "45920673",
"url": "http://www.informatics.jax.org/homology/45920673",
"database": "MGI"
},
{
"id": "P13497",
"url": "https://omabrowser.org/oma/group/P13497/",
"database": "OMA"
}
],
"common_name": "Rat"
},
{
"uniprot_canonical_ac": "P25723-1",
"protein_name": "Dorsal-ventral patterning protein tolloid",
"gene_name": "tld",
"tax_id": 7227,
"organism": "Drosophila melanogaster",
"sequence": {
"sequence": "MKGMRLMPMKMKAKLVVLSVGALWMMMFFLVDYAEGRRLSQLPESECDFDFKEQPEDFFGILDSSLVPPKEPKDDIYQLKTTRQHSGRRRKQSHKSQNKAALRLPPPFLWTDDAVDVLQHSHSPTLNGQPIQRRRRAVTVRKERTWDYGVIPYEIDTIFSGAHKALFKQAMRHWENFTCIKFVERDPNLHANYIYFTVKNCGCCSFLGKNGNGRQPISIGRNCEKFGIIIHELGHTIGFHHEHARGDRDKHIVINKGNIMRGQEYNFDVLSPEEVDLPLLPYDLNSIMHYAKNSFSKSPYLDTITPIGIPPGTHLELGQRKRLSRGDIVQANLLYKCASCGRTYQQNSGHIVSPHFIYSGNGVLSEFEGSGDAGEDPSAESEFDASLTNCEWRITATNGEKVILHLQQLHLMSSDDCTQDYLEIRDGYWHKSPLVRRICGNVSGEVITTQTSRMLLNYVNRNAAKGYRGFKARFEVVCGGDLKLTKDQSIDSPNYPMDYMPDKECVWRITAPDNHQVALKFQSFELEKHDGCAYDFVEIRDGNHSDSRLIGRFCGDKLPPNIKTRSNQMYIRFVSDSSVQKLGFSAALMLDVDECKFTDHGCQHLCINTLGSYQCGCRAGYELQANGKTCEDACGGVVDATKSNGSLYSPSYPDVYPNSKQCVWEVVAPPNHAVFLNFSHFDLEGTRFHYTKCNYDYLIIYSKMRDNRLKKIGIYCGHELPPVVNSEQSILRLEFYSDRTVQRSGFVAKFVIDVDECSMNNGGCQHRCRNTFGSYQCSCRNGYTLAENGHNCTETRCKFEITTSYGVLQSPNYPEDYPRNIYCYWHFQTVLGHRIQLTFHDFEVESHQECIYDYVAIYDGRSENSSTLGIYCGGREPYAVIASTNEMFMVLATDAGLQRKGFKATFVSECGGYLRATNHSQTFYSHPRYGSRPYKRNMYCDWRIQADPESSVKIRFLHFEIEYSERCDYDYLEITEEGYSMNTIHGRFCGKHKPPIIISNSDTLLLRFQTDESNSLRGFAISFMAVDPPEDSVGEDFDAVTPFPGYLKSMYSSETGSDHLLPPSRLI",
"length": 1067
},
"evidence": [
{
"id": "P13497",
"url": "https://omabrowser.org/oma/group/P13497/",
"database": "OMA"
}
],
"common_name": "Fruit fly"
},
{
"uniprot_canonical_ac": "P98063-1",
"protein_name": "Bone morphogenetic protein 1",
"gene_name": "Bmp1",
"tax_id": 10090,
"organism": "Mus musculus",
"sequence": {
"sequence": "MPGVARPPLPLLSLPLLLLLLLLPRAGRPLDLADYTYDLGEEDAPELLNYKDPCKAAAFLGDIALDEEDLRAFQVQQAAVLRQQTARRPSIKAAGNSSALGGQGTSGQPQRESRGRWRGRPRSRRAATSRPERVWPDGVIPFVIGGNFTGSQRAVFRQAMRHWEKHTCVTFLERTDEDSYIVFTYRPCGCCSYVGRRGGGPQAISIGKNCDKFGIVVHELGHVIGFWHEHTRPDRDRHVSIVRENIQPGQEYNFLKMEVQEVESLGETYDFDSIMHYARNTFSRGIFLDTIVPKYEVNGVKPSIGQRTRLSKGDIAQARKLYKCPACGETLQDSTGNFSSPEYPNGYSAHMHCVWRISVTPGEKIILNFTSMDLYRSRLCWYDYVEVRDGFWRKAPLRGRFCGGKLPEPIVSTDSRLWVEFRSSSNWVGKGFFAVYEAICGGDVKKDNGHIQSPNYPDDYRPSKVCIWRIQVSEGFHVGLTFQSFEIERHDSCAYDYLEVRDGHSESSNLIGRYCGYEKPDDIKSTSSRLWLKFVSDGSINKAGFAVNFFKEVDECSRPNRGGCEQRCLNTLGSYKCSCDPGYELAPDKRRCEAACGGFLTKLNGSITSPGWPKEYPPNKNCIWQLVAPTQYRISLQFDFFETEGNDVCKYDFVEVRSGLTADSKLHGKFCGSEKPEVITSQYNNMRVEFKSDNTVSKKGFKAHFFSDKDECSKDNGGCQQDCVNTFGSYECQCRSGFVLHDNKHDCKEAGCEHKVTSTSGTITSPNWPDKYPSKKECTWAISSTPGHRVKLTFVEMDIESQPECAYDHLEVFDGRDAKAPVLGRFCGSKKPEPVLATGNRMFLRFYSDNSVQRKGFQASHSTECGGQVRADVKTKDLYSHAQFGDNNYPGGVDCEWVIVAEEGYGVELVFQTFEVEEETDCGYDYIELFDGYDSTAPRLGRYCGSGPPEEVYSAGDSVLVKFHSDDTISKKGFHLRYTSTKFQDTLHSRK",
"length": 991
},
"evidence": [
{
"id": "45920673",
"url": "http://www.informatics.jax.org/homology/45920673",
"database": "MGI"
},
{
"id": "P13497",
"url": "https://omabrowser.org/oma/group/P13497/",
"database": "OMA"
}
],
"common_name": "Mouse"
}
],
"go_annotation": {
"categories": [
{
"name": "Molecular Function",
"total": 9,
"go_terms": [
{
"name": "metalloendopeptidase activity",
"id": "GO:0004222",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004222",
"evidence": [
{
"database": "UniProtKB",
"id": "P13497",
"url": "https://www.uniprot.org/uniprot/P13497"
}
],
"pmid": ""
},
{
"name": "serine-type endopeptidase activity",
"id": "GO:0004252",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004252",
"evidence": [
{
"database": "UniProtKB",
"id": "P13497",
"url": "https://www.uniprot.org/uniprot/P13497"
}
],
"pmid": ""
},
{
"name": "metallopeptidase activity",
"id": "GO:0008237",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008237",
"evidence": [
{
"database": "UniProtKB",
"id": "P13497",
"url": "https://www.uniprot.org/uniprot/P13497"
}
],
"pmid": ""
},
{
"name": "zinc ion binding",
"id": "GO:0008270",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270",
"evidence": [
{
"database": "UniProtKB",
"id": "P13497",
"url": "https://www.uniprot.org/uniprot/P13497"
}
],
"pmid": ""
},
{
"name": "identical protein binding",
"id": "GO:0042802",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802",
"evidence": [
{
"database": "UniProtKB",
"id": "P13497",
"url": "https://www.uniprot.org/uniprot/P13497"
}
],
"pmid": ""
},
{
"name": "calcium ion binding",
"id": "GO:0005509",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509",
"evidence": [
{
"database": "UniProtKB",
"id": "P13497",
"url": "https://www.uniprot.org/uniprot/P13497"
}
],
"pmid": ""
},
{
"name": "cytokine activity",
"id": "GO:0005125",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125",
"evidence": [
{
"database": "UniProtKB",
"id": "P13497",
"url": "https://www.uniprot.org/uniprot/P13497"
}
],
"pmid": ""
},
{
"name": "growth factor activity",
"id": "GO:0008083",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008083",
"evidence": [
{
"database": "UniProtKB",
"id": "P13497",
"url": "https://www.uniprot.org/uniprot/P13497"
}
],
"pmid": ""
},
{
"name": "peptidase activity",
"id": "GO:0008233",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008233",
"evidence": [
{
"database": "UniProtKB",
"id": "P13497",
"url": "https://www.uniprot.org/uniprot/P13497"
}
],
"pmid": ""
}
]
},
{
"name": "Cellular Component",
"total": 4,
"go_terms": [
{
"name": "extracellular region",
"id": "GO:0005576",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576",
"evidence": [
{
"database": "UniProtKB",
"id": "P13497",
"url": "https://www.uniprot.org/uniprot/P13497"
}
],
"pmid": ""
},
{
"name": "extracellular space",
"id": "GO:0005615",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615",
"evidence": [
{
"database": "UniProtKB",
"id": "P13497",
"url": "https://www.uniprot.org/uniprot/P13497"
}
],
"pmid": ""
},
{
"name": "Golgi apparatus",
"id": "GO:0005794",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794",
"evidence": [
{
"database": "UniProtKB",
"id": "P13497",
"url": "https://www.uniprot.org/uniprot/P13497"
}
],
"pmid": ""
},
{
"name": "vesicle",
"id": "GO:0031982",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982",
"evidence": [
{
"database": "UniProtKB",
"id": "P13497",
"url": "https://www.uniprot.org/uniprot/P13497"
}
],
"pmid": ""
}
]
},
{
"name": "Biological Process",
"total": 9,
"go_terms": [
{
"name": "proteolysis",
"id": "GO:0006508",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508",
"evidence": [
{
"database": "UniProtKB",
"id": "P13497",
"url": "https://www.uniprot.org/uniprot/P13497"
}
],
"pmid": ""
},
{
"name": "protein processing",
"id": "GO:0016485",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016485",
"evidence": [
{
"database": "UniProtKB",
"id": "P13497",
"url": "https://www.uniprot.org/uniprot/P13497"
}
],
"pmid": ""
},
{
"name": "cell differentiation",
"id": "GO:0030154",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154",
"evidence": [
{
"database": "UniProtKB",
"id": "P13497",
"url": "https://www.uniprot.org/uniprot/P13497"
}
],
"pmid": ""
},
{
"name": "skeletal system development",
"id": "GO:0001501",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501",
"evidence": [
{
"database": "UniProtKB",
"id": "P13497",
"url": "https://www.uniprot.org/uniprot/P13497"
}
],
"pmid": ""
},
{
"name": "collagen fibril organization",
"id": "GO:0030199",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030199",
"evidence": [
{
"database": "UniProtKB",
"id": "P13497",
"url": "https://www.uniprot.org/uniprot/P13497"
}
],
"pmid": ""
},
{
"name": "ossification",
"id": "GO:0001503",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001503",
"evidence": [
{
"database": "UniProtKB",
"id": "P13497",
"url": "https://www.uniprot.org/uniprot/P13497"
}
],
"pmid": ""
},
{
"name": "cartilage condensation",
"id": "GO:0001502",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001502",
"evidence": [
{
"database": "UniProtKB",
"id": "P13497",
"url": "https://www.uniprot.org/uniprot/P13497"
}
],
"pmid": ""
},
{
"name": "dorsal/ventral pattern formation",
"id": "GO:0009953",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009953",
"evidence": [
{
"database": "UniProtKB",
"id": "P13497",
"url": "https://www.uniprot.org/uniprot/P13497"
}
],
"pmid": ""
},
{
"name": "positive regulation of cartilage development",
"id": "GO:0061036",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061036",
"evidence": [
{
"database": "UniProtKB",
"id": "P13497",
"url": "https://www.uniprot.org/uniprot/P13497"
}
],
"pmid": ""
}
]
}
]
},
"pro_annotation": [],
"site_annotation": [
{
"start_pos": 142,
"end_pos": 144,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 332,
"end_pos": 334,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 363,
"end_pos": 365,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 599,
"end_pos": 601,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 91,
"end_pos": 93,
"annotation": "n_glycosylation_sequon"
}
],
"ptm_annotation": [
{
"annotation": "Proteolytically activated in the trans-Golgi network by furin-like/paired basic proprotein convertases, cleavage is not required for secretion.",
"evidence": [
{
"database": "UniProtKB",
"id": "P13497",
"url": "https://www.uniprot.org/uniprot/P13497"
},
{
"database": "PubMed",
"id": "12637569",
"url": "https://glygen.org/publication/PubMed/12637569"
}
]
}
],
"interactions": [],
"reactions": [
{
"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-2002428",
"name": "Removal of fibrillar collagen N-propeptides",
"equation": "",
"summary": "Fibrillar collagen is synthesized in the ER as procollagen with N- and C-terminal propeptides flanking the collagenous domain (Bellamy & Bornstein 1971). These propeptides, particularly the C-propeptide, inhibit fibril formation (Kadler et al. 1987). Type V collagen N-propeptide removal is partial, and reported to be mediated by BMP-1 which cleaves between the proline/arginine-rich protein domain and the variable domain of the alpha1 chain and between the small and the large collagenous domain of alpha3 chain (refs. in Colige et al. 2005). ; ; ; Mutations in procollagen peptide type V (COL5A1) can cause diseases such as Ehlers-Danlos Sydrome. Majority of the cases result from haploinsufficiency of COL5A1 protein that may lead to a disorganised extracellular matrix. Moreover, other mutations result in structural defects which may in turn result in defective collagen fibrils. The accumulation and interaction of this defective collagen fibrils may lead to ER stress and other complications in the cell (Takahara K et al. 2002, Symoens S et al. 2012).",
"cellular_location": "extracellular region",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O95450-1",
"P13497-1",
"O15072-1",
"Q8WXS8-1"
],
"evidence": [
{
"id": "R-HSA-2002428",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2002428"
}
]
},
{
"id": "R-HSA-2002440",
"name": "Removal of fibrillar collagen C-propeptides",
"equation": "",
"summary": "Fibrillar collagen is synthesized in the ER as procollagen with N- and C- terminal propeptides flanking the collagenous domain (Bellamy & Bornstein 1971). These propeptides, particularly the C-propeptide, inhibit fibril formation (Kadler et al. 1987). Removal of propeptides is generally described as an extracellular process but can occur within the cell. Procollagen processing in tendon fibroblasts was initiated within the secretory pathway with the N-propetides removed first, in the ER or an intermediate between the ER and Golgi. The C peptides were removed later, probably at the cell membrane-ECM interface (Canty-Laird et al. 2012).
Collagen C-propeptides are cleaved by the tolloid family metalloproteinases bone morphogenic protein 1 (BMP1)/mammalian tolloid (mTLD), tolloid-like 1 (TLL1) and TLL2.
Procollagen types I-III are cleaved by BMP1/mTLD (Chicken types I and II, human type III, by chicken enzyme, Hojima et al. 1985, human types I, II, human enzyme, Scott et al. 1999), TLL-1 (human types I, II, human enzyme, Scott et al. 1999), and TLL-2 in the presence of PCOLCE (PCPE-1, Pappano et al. 2003, Petropoulou et al. 2005). Type V C-propeptide removal is mediated by furin-like proprotein convertases and/or BMP-1 depending on the chain type (Kessler et al. 2005).",
"cellular_location": "extracellular region",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O43897-1",
"P13497-1",
"Q9Y6L7-1"
],
"evidence": [
{
"id": "R-HSA-2002440",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2002440"
}
]
},
{
"id": "R-HSA-2022141",
"name": "Prolysyl oxidase activation",
"equation": "",
"summary": "Lysyl oxidase (LOX) is secreted to the extracellular space in an inactive, proenzyme form (proLOX). This is proteolytically cleaved between Gly168 and Asp169 generating the mature 32-kDa enzyme. The activating proteinase is Bone morphogenetic protein 1 (BMP1), also called Procollagen C-proteinase (Cronshaw et al. 1995, Panchenko et al. 1996). Other extracellular proteases, including the BMP1 variant mammalian tolloid, tolloid-like (TLL) 1 and TLL2 proteases cleave proLOX at the correct physiological site but with lower efficiency (Uzel et al. 2001).",
"cellular_location": "extracellular region",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q96JB6-1",
"Q9Y4K0-1",
"P28300-1",
"O43897-1",
"P13497-1",
"P58215-1",
"Q9Y6L7-1",
"Q08397-1"
],
"evidence": [
{
"id": "R-HSA-2022141",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022141"
}
]
},
{
"id": "R-HSA-2214330",
"name": "Cleavage of collagen VII NC2 region by BMP1",
"equation": "",
"summary": "Bone morphogenetic protein-1 (BMP1) cleaves the C-terminal propeptide from human procollagen VII within the NC2 domain at the BMP1 consensus cleavage site SYAA|DTAG. Mammalian tolloid-like (mTLL)-1 and -2 can substitute for BMP1 (Ratttenholl et al. 2002).",
"cellular_location": "extracellular region",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O43897-1",
"P13497-1",
"Q9Y6L7-1"
],
"evidence": [
{
"id": "R-HSA-2214330",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2214330"
}
]
},
{
"id": "R-HSA-3814820",
"name": "HSPG2 (perlecan) is cleaved by BMP1, TLL1, TLL2, Cathepsin L1",
"equation": "",
"summary": "Endorepellin is the 85-kDa C-terminal domain V of HSPG2 (perlecan). It consists of a series of laminin-like globular (LG) domains interconnected by short epidermal growth factor-like repeats (Hohenester & Engel 2002). Endorepellin has angiostatic activity (Mongiat et al. 2003) which is primarily localised in the LG3 domain (Bix et al. 2004). ; ; Bone morphogenetic protein 1 (BMP1), its isoform mammalian Tolloid (mTLD), mammalian Tolloid-like-1 and -2 (TLL1, TLL2) (Gonzalez et al. 2005) and cathepsin-L1 (Cailhier et al. 2008) can liberate LG3 by cleaving endorepellin between Asn4196 and Asp4197.",
"cellular_location": "extracellular region",
"input_participant_list": [],
"output_participant_list": [
"R-HSA-3827968",
"R-HSA-3827980"
],
"enzyme_list": [
"P07711-1",
"O43897-1",
"P13497-1",
"Q9Y6L7-1"
],
"evidence": [
{
"id": "R-HSA-3814820",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3814820"
}
]
}
],
"reaction_participants": [
{
"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-2533911",
"participant_name": "Cleaved laminin-332 [extracellular region]",
"crossref": [
{
"id": "CPX-1774",
"database": "ComplexPortal",
"url": ""
}
]
},
{
"participant_id": "R-HSA-3827968",
"participant_name": "HSPG2(22-4196) [extracellular region]",
"crossref": [
{
"id": "16234",
"database": "Orphanet",
"url": ""
},
{
"id": "P98160",
"database": "Pharos - Targets",
"url": ""
},
{
"id": "ENSP00000363827",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000374695",
"database": "Ensembl",
"url": ""
},
{
"id": "P98160",
"database": "PRO",
"url": ""
},
{
"id": "ENSG00000142798-HSPG2",
"database": "HPA",
"url": ""
},
{
"id": "3SH5",
"database": "PDB",
"url": ""
},
{
"id": "P98160",
"database": "UniProt",
"url": ""
},
{
"id": "HMDBP01713",
"database": "HMDB Protein",
"url": ""
},
{
"id": "ENSG00000142798",
"database": "Ensembl",
"url": ""
},
{
"id": "3SH4",
"database": "PDB",
"url": ""
},
{
"id": "P98160",
"database": "GeneCards",
"url": ""
},
{
"id": "NP_005520.4",
"database": "RefSeq",
"url": ""
},
{
"id": "NP_001278789.1",
"database": "RefSeq",
"url": ""
},
{
"id": "ENSG00000142798",
"database": "OpenTargets",
"url": ""
}
]
},
{
"participant_id": "R-HSA-3827980",
"participant_name": "HSPG2(4197-4391) [extracellular region]",
"crossref": [
{
"id": "ENSG00000142798-HSPG2",
"database": "HPA",
"url": ""
},
{
"id": "3SH5",
"database": "PDB",
"url": ""
},
{
"id": "P98160",
"database": "PRO",
"url": ""
},
{
"id": "ENST00000374695",
"database": "Ensembl",
"url": ""
},
{
"id": "16234",
"database": "Orphanet",
"url": ""
},
{
"id": "P98160",
"database": "Pharos - Targets",
"url": ""
},
{
"id": "ENSP00000363827",
"database": "Ensembl",
"url": ""
},
{
"id": "P98160",
"database": "GeneCards",
"url": ""
},
{
"id": "HMDBP01713",
"database": "HMDB Protein",
"url": ""
},
{
"id": "3SH4",
"database": "PDB",
"url": ""
},
{
"id": "ENSG00000142798",
"database": "Ensembl",
"url": ""
},
{
"id": "P98160",
"database": "UniProt",
"url": ""
},
{
"id": "NP_005520.4",
"database": "RefSeq",
"url": ""
},
{
"id": "ENSG00000142798",
"database": "OpenTargets",
"url": ""
},
{
"id": "NP_001278789.1",
"database": "RefSeq",
"url": ""
}
]
}
],
"reaction_enzymes": [
{
"uniprot_ac": "O15072",
"gene_name": "ADAMTS3",
"activity": [
{
"ec_number": "3.4.24.-",
"activity": "",
"evidence": [
{
"id": "O15072",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O15072"
}
]
}
]
},
{
"uniprot_ac": "O43897",
"gene_name": "TLL1",
"activity": [
{
"ec_number": "3.4.24.-",
"activity": "",
"evidence": [
{
"id": "O43897",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O43897"
}
]
}
]
},
{
"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": "O95450",
"gene_name": "ADAMTS2",
"activity": [
{
"ec_number": "3.4.24.14",
"activity": "Cleaves the N-propeptide of collagen chain alpha1(I) at Pro-|-Gln and of alpha1(II) and alpha2(I) at Ala-|-Gln.",
"evidence": [
{
"id": "O95450",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O95450"
}
]
},
{
"ec_number": "3.4.24.14",
"activity": "",
"evidence": [
{
"id": "O95450",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O95450"
}
]
}
]
},
{
"uniprot_ac": "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": "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": "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": "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": "P28300",
"gene_name": "LOX",
"activity": [
{
"ec_number": "1.4.3.13",
"activity": "H2O + L-lysyl-[protein] + O2 = (S)-2-amino-6-oxohexanoyl-[protein] + H2O2 + NH4(+).",
"evidence": [
{
"id": "P28300",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P28300"
}
]
},
{
"ec_number": "1.4.3.13",
"activity": "",
"evidence": [
{
"id": "P28300",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P28300"
}
]
}
]
},
{
"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": "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": "P58215",
"gene_name": "LOXL3",
"activity": [
{
"ec_number": "1.4.3.13",
"activity": "H2O + L-lysyl-[protein] + O2 = (S)-2-amino-6-oxohexanoyl-[protein] + H2O2 + NH4(+).",
"evidence": [
{
"id": "P58215",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P58215"
}
]
},
{
"ec_number": "1.4.3.13",
"activity": "",
"evidence": [
{
"id": "P58215",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P58215"
}
]
},
{
"ec_number": "1.4.3.-",
"activity": "",
"evidence": [
{
"id": "P58215",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P58215"
}
]
}
]
},
{
"uniprot_ac": "Q08397",
"gene_name": "LOXL1",
"activity": [
{
"ec_number": "1.4.3.-",
"activity": "",
"evidence": [
{
"id": "Q08397",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q08397"
}
]
}
]
},
{
"uniprot_ac": "Q8WXS8",
"gene_name": "ADAMTS14",
"activity": [
{
"ec_number": "3.4.24.-",
"activity": "",
"evidence": [
{
"id": "Q8WXS8",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q8WXS8"
}
]
}
]
},
{
"uniprot_ac": "Q96JB6",
"gene_name": "LOXL4",
"activity": [
{
"ec_number": "1.4.3.-",
"activity": "",
"evidence": [
{
"id": "Q96JB6",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q96JB6"
}
]
}
]
},
{
"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"
}
]
}
]
},
{
"uniprot_ac": "Q9Y4K0",
"gene_name": "LOXL2",
"activity": [
{
"ec_number": "1.4.3.13",
"activity": "H2O + L-lysyl-[protein] + O2 = (S)-2-amino-6-oxohexanoyl-[protein] + H2O2 + NH4(+).",
"evidence": [
{
"id": "Q9Y4K0",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q9Y4K0"
}
]
},
{
"ec_number": "1.4.3.13",
"activity": "",
"evidence": [
{
"id": "Q9Y4K0",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q9Y4K0"
}
]
}
]
},
{
"uniprot_ac": "Q9Y6L7",
"gene_name": "TLL2",
"activity": [
{
"ec_number": "3.4.24.-",
"activity": "",
"evidence": [
{
"id": "Q9Y6L7",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q9Y6L7"
}
]
}
]
}
],
"biomarkers": [],
"synthesized_glycans": [],
"cluster_types": [
{
"name": "isoformset.uniprotkb",
"label": "Isoforms"
},
{
"name": "homologset.mgi",
"label": "MGI Homologs"
},
{
"name": "homologset.oma",
"label": "OMA Homologs"
}
],
"sequence_features": {
"n_linked_sites": [
91,
142,
332,
363,
599
],
"o_linked_sites": [
569,
724
],
"snv_sites": [
92,
144,
334,
365,
502,
569,
599,
601,
681,
688,
713,
724,
786,
856,
885,
929
],
"glycation_sites": [],
"phosphorylation_sites": [
973,
975
],
"sequon_annotation_sites": [
{
"start_pos": 142,
"end_pos": 144
},
{
"start_pos": 332,
"end_pos": 334
},
{
"start_pos": 363,
"end_pos": 365
},
{
"start_pos": 599,
"end_pos": 601
},
{
"start_pos": 91,
"end_pos": 93
}
]
},
"section_stats": [
{
"table_id": "glycosylation",
"table_stats": [
{
"field": "total",
"count": 12
},
{
"field": "total_sites",
"count": 7
},
{
"field": "n_linked_glycans",
"count": 4
},
{
"field": "n_linked_glycan_sites",
"count": 7
},
{
"field": "o_linked_glycans",
"count": 1
},
{
"field": "o_linked_glycan_sites",
"count": 2
}
],
"sort_fields": [
"glytoucan_ac",
"type",
"subtype",
"site_category",
"site_seq",
"relation",
"comment",
"start_pos",
"start_aa",
"end_pos",
"end_aa",
"residue",
"site_lbl"
]
},
{
"table_id": "glycosylation_reported",
"table_stats": [
{
"field": "total",
"count": 5
},
{
"field": "total_sites",
"count": 5
},
{
"field": "n_linked_glycans",
"count": 0
},
{
"field": "n_linked_glycan_sites",
"count": 5
},
{
"field": "o_linked_glycans",
"count": 0
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