{
"uniprot_canonical_ac": "P09958-1",
"uniprot_ac": "P09958",
"uniprot_id": "FURIN_HUMAN",
"mass": {
"chemical_mass": 86678.0,
"monoisotopic_mass": 86678.0
},
"refseq": {
"ac": "NP_001276752",
"name": "furin isoform 1 preproprotein",
"summary": "This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. It encodes a type 1 membrane bound protease that is expressed in many tissues, including neuroendocrine, liver, gut, and brain. The encoded protein undergoes an initial autocatalytic processing event in the ER and then sorts to the trans-Golgi network through endosomes where a second autocatalytic event takes place and the catalytic activity is acquired. Like other members of this convertase family, the product of this gene specifically cleaves substrates at single or paired basic residues. Some of its substrates include proparathyroid hormone, transforming growth factor beta 1 precursor, proalbumin, pro-beta-secretase, membrane type-1 matrix metalloproteinase, beta subunit of pro-nerve growth factor and von Willebrand factor. It is thought to be one of the proteases responsible for the activation of HIV envelope glycoproteins gp160 and gp140, and may play a role in tumor progression. Unlike SARS-CoV and other coronaviruses, the spike protein of SARS-CoV-2 is thought to be uniquely cleaved by this protease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2020].",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276752"
},
"gene_names": [
{
"name": "FURIN",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/P09958",
"id": "P09958"
},
{
"name": "FUR; PACE; PCSK3; SPC1",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276752",
"id": "NP_001276752"
},
{
"name": "FURIN",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276752",
"id": "NP_001276752"
},
{
"name": "FUR",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/P09958",
"id": "P09958"
},
{
"name": "PACE",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/P09958",
"id": "P09958"
},
{
"name": "PCSK3",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/P09958",
"id": "P09958"
}
],
"protein_names": [
{
"name": "Furin",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "P09958"
},
{
"name": "3.4.21.75",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P09958"
},
{
"name": "Dibasic-processing enzyme",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P09958"
},
{
"name": "PACE",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P09958"
},
{
"name": "Paired basic amino acid residue-cleaving enzyme",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P09958"
},
{
"name": "furin isoform 1 preproprotein",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276752",
"id": "NP_001276752"
},
{
"name": "proprotein convertase subtilisin/kexin type 3; dibasic processing enzyme; furin, membrane associated receptor protein; FES upstream region; paired basic amino acid residue-cleaving enzyme; proprotein convertase subtilisin/kexin 3; subtilisin-like proprotein convertase 1",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276752",
"id": "NP_001276752"
}
],
"function": [
{
"annotation": "(Microbial infection) Able to cleave S.pneumoniae serine-rich repeat protein PsrP.",
"evidence": [
{
"database": "UniProtKB",
"id": "P09958",
"url": "https://www.uniprot.org/uniprot/P09958#function"
},
{
"database": "PubMed",
"id": "27582320",
"url": "https://glygen.org/publication/PubMed/27582320"
}
]
},
{
"annotation": "(Microbial infection) Cleaves and activates HIV-1 virus Envelope glycoprotein gp160.",
"evidence": [
{
"database": "UniProtKB",
"id": "P09958",
"url": "https://www.uniprot.org/uniprot/P09958#function"
},
{
"database": "PubMed",
"id": "31091448",
"url": "https://glygen.org/publication/PubMed/31091448"
}
]
},
{
"annotation": "(Microbial infection) Cleaves and activates anthrax toxin protective antigen (PA).",
"evidence": [
{
"database": "UniProtKB",
"id": "P09958",
"url": "https://www.uniprot.org/uniprot/P09958#function"
},
{
"database": "PubMed",
"id": "1644824",
"url": "https://glygen.org/publication/PubMed/1644824"
},
{
"database": "PubMed",
"id": "1438214",
"url": "https://glygen.org/publication/PubMed/1438214"
}
]
},
{
"annotation": "(Microbial infection) Cleaves and activates diphtheria toxin DT.",
"evidence": [
{
"database": "UniProtKB",
"id": "P09958",
"url": "https://www.uniprot.org/uniprot/P09958#function"
},
{
"database": "PubMed",
"id": "8253774",
"url": "https://glygen.org/publication/PubMed/8253774"
}
]
},
{
"annotation": "(Microbial infection) Facilitates human coronaviruses EMC and SARS-CoV-2 infections by proteolytically cleaving the spike protein at the monobasic S1/S2 cleavage site. This cleavage is essential for spike protein-mediated cell-cell fusion and entry into human lung cells.",
"evidence": [
{
"database": "UniProtKB",
"id": "P09958",
"url": "https://www.uniprot.org/uniprot/P09958#function"
},
{
"database": "PubMed",
"id": "32703818",
"url": "https://glygen.org/publication/PubMed/32703818"
},
{
"database": "PubMed",
"id": "32362314",
"url": "https://glygen.org/publication/PubMed/32362314"
}
]
},
{
"annotation": "(Microbial infection) Facilitates mumps virus infection by proteolytically cleaving the viral fusion protein F.",
"evidence": [
{
"database": "UniProtKB",
"id": "P09958",
"url": "https://www.uniprot.org/uniprot/P09958#function"
},
{
"database": "PubMed",
"id": "32295904",
"url": "https://glygen.org/publication/PubMed/32295904"
}
]
},
{
"annotation": "(Microbial infection) Required for H7N1 and H5N1 influenza virus infection probably by cleaving hemagglutinin.",
"evidence": [
{
"database": "UniProtKB",
"id": "P09958",
"url": "https://www.uniprot.org/uniprot/P09958#function"
},
{
"database": "PubMed",
"id": "25974265",
"url": "https://glygen.org/publication/PubMed/25974265"
}
]
},
{
"annotation": "Allele-Specific Epigenetic Regulation of FURIN Expression at a Coronary Artery Disease Susceptibility Locus. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001276752",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276752"
},
{
"database": "PubMed",
"id": "37443715",
"url": "https://glygen.org/publication/PubMed/37443715"
}
]
},
{
"annotation": "An Overview of the Role of Furin in Type 2 Diabetes. Review article Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001276752",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276752"
},
{
"database": "PubMed",
"id": "37830621",
"url": "https://glygen.org/publication/PubMed/37830621"
}
]
},
{
"annotation": "PCSK3 Overexpression in Sjogren's Syndrome Patients May Be Regulated by rs4932178 SNP in Its Promoter Region and Correlates with IFN-gamma Gene Expression. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001276752",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276752"
},
{
"database": "PubMed",
"id": "37239341",
"url": "https://glygen.org/publication/PubMed/37239341"
}
]
},
{
"annotation": "Proprotein Convertase Furin Regulates Melanogenesis via the Notch Signaling Pathway.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001276752",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276752"
},
{
"database": "PubMed",
"id": "37105924",
"url": "https://glygen.org/publication/PubMed/37105924"
}
]
},
{
"annotation": "This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. It encodes a type 1 membrane bound protease that is expressed in many tissues, including neuroendocrine, liver, gut, and brain. The encoded protein undergoes an initial autocatalytic processing event in the ER and then sorts to the trans-Golgi network through endosomes where a second autocatalytic event takes place and the catalytic activity is acquired. Like other members of this convertase family, the product of this gene specifically cleaves substrates at single or paired basic residues. Some of its substrates include proparathyroid hormone, transforming growth factor beta 1 precursor, proalbumin, pro-beta-secretase, membrane type-1 matrix metalloproteinase, beta subunit of pro-nerve growth factor and von Willebrand factor. It is thought to be one of the proteases responsible for the activation of HIV envelope glycoproteins gp160 and gp140, and may play a role in tumor progression. Unlike SARS-CoV and other coronaviruses, the spike protein of SARS-CoV-2 is thought to be uniquely cleaved by this protease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2020].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001276752",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276752"
}
]
},
{
"annotation": "Ubiquitous endoprotease within constitutive secretory pathways capable of cleavage at the RX(K/R)R consensus motif (PubMed:11799113, PubMed:1629222, PubMed:1713771, PubMed:2251280, PubMed:24666235, PubMed:25974265, PubMed:7592877, PubMed:7690548, PubMed:9130696). Mediates processing of TGFB1, an essential step in TGF-beta-1 activation (PubMed:7737999). Converts through proteolytic cleavage the non-functional Brain natriuretic factor prohormone into its active hormone BNP(1-32) (PubMed:20489134, PubMed:21763278). By mediating processing of accessory subunit ATP6AP1/Ac45 of the V-ATPase, regulates the acidification of dense-core secretory granules in islets of Langerhans cells (By similarity).",
"evidence": [
{
"database": "UniProtKB",
"id": "P09958",
"url": "https://www.uniprot.org/uniprot/P09958#function"
},
{
"database": "PubMed",
"id": "24666235",
"url": "https://glygen.org/publication/PubMed/24666235"
},
{
"database": "PubMed",
"id": "25974265",
"url": "https://glygen.org/publication/PubMed/25974265"
},
{
"database": "PubMed",
"id": "9130696",
"url": "https://glygen.org/publication/PubMed/9130696"
},
{
"database": "UniProtKB",
"id": "P23188",
"url": "https://www.uniprot.org/uniprot/P23188#function"
},
{
"database": "PubMed",
"id": "7592877",
"url": "https://glygen.org/publication/PubMed/7592877"
},
{
"database": "PubMed",
"id": "1713771",
"url": "https://glygen.org/publication/PubMed/1713771"
},
{
"database": "PubMed",
"id": "2251280",
"url": "https://glygen.org/publication/PubMed/2251280"
},
{
"database": "PubMed",
"id": "7690548",
"url": "https://glygen.org/publication/PubMed/7690548"
},
{
"database": "PubMed",
"id": "1629222",
"url": "https://glygen.org/publication/PubMed/1629222"
},
{
"database": "PubMed",
"id": "11799113",
"url": "https://glygen.org/publication/PubMed/11799113"
},
{
"database": "PubMed",
"id": "7737999",
"url": "https://glygen.org/publication/PubMed/7737999"
},
{
"database": "PubMed",
"id": "20489134",
"url": "https://glygen.org/publication/PubMed/20489134"
},
{
"database": "PubMed",
"id": "21763278",
"url": "https://glygen.org/publication/PubMed/21763278"
}
]
}
],
"disease": [],
"snv": [
{
"evidence": [
{
"id": "rs1335808568",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1335808568"
},
{
"id": "rs1335808568",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs1335808568#frequency_tab"
},
{
"id": "rs1335808568",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs1335808568"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 209,
"end_pos": 209,
"sequence_org": "G",
"sequence_mut": "S",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NNG->NNS).",
"chr_id": "15",
"chr_pos": "90877573",
"ref_nt": "A",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "G209",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs747051264",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747051264"
},
{
"id": "rs747051264",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747051264"
},
{
"id": "rs747051264",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs747051264"
}
],
"glycoeffect": [
"n-glyco-sequon-gain",
"o-glyco-site-loss"
],
"start_pos": 421,
"end_pos": 421,
"sequence_org": "S",
"sequence_mut": "N",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SHS->NHS).",
"chr_id": "15",
"chr_pos": "90879870",
"ref_nt": "A",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "S421",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs780164892",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780164892"
},
{
"id": "rs780164892",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780164892"
},
{
"id": "rs780164892",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs780164892#frequency_tab"
},
{
"id": "rs780164892",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs780164892"
}
],
"glycoeffect": [
"n-glyco-sequon-loss",
"o-glyco-site-loss"
],
"start_pos": 442,
"end_pos": 442,
"sequence_org": "T",
"sequence_mut": "I",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NWT->NWI).",
"chr_id": "15",
"chr_pos": "90879933",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "T442",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs1596079353",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1596079353"
},
{
"id": "rs1596079353",
"database": "ENSEMBL",
"url": "https://www.ensembl.org/id/rs1596079353"
}
],
"glycoeffect": [
"n-glyco-sequon-loss",
"o-glyco-site-loss"
],
"start_pos": 554,
"end_pos": 554,
"sequence_org": "T",
"sequence_mut": "P",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTS->NPS).",
"chr_id": "15",
"chr_pos": "90880794",
"ref_nt": "C",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "T554",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs1398741817",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1398741817"
},
{
"id": "rs1398741817",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs1398741817"
}
],
"glycoeffect": [
"n-glyco-sequon-gain",
"o-glyco-site-loss"
],
"start_pos": 589,
"end_pos": 589,
"sequence_org": "T",
"sequence_mut": "N",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TLT->NLT).",
"chr_id": "15",
"chr_pos": "90881014",
"ref_nt": "A",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "T589",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "P09958",
"database": "BioMuta",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P09958"
}
],
"glycoeffect": [],
"start_pos": 619,
"end_pos": 619,
"subjects_tested": "0",
"subjects_positive": "0",
"frequency": "0.0",
"sequence_org": "A",
"sequence_mut": "T",
"comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).",
"chr_id": "15",
"chr_pos": "90881348",
"ref_nt": "G",
"alt_nt": "A",
"minor_allelic_frequency": "",
"site_lbl": "A619",
"disease": [
{
"disease_id": "DOID:10283",
"recommended_name": {
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate cancer",
"description": "A male reproductive organ cancer that is located_in the prostate."
},
"synonyms": [
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "NGP - new growth of prostate",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "hereditary prostate cancer",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "malignant tumor of the prostate",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate cancer, familial",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate neoplasm",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostatic cancer",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostatic neoplasm",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "tumor of the prostate",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, type 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "HPC9",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, 12",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene."
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "EHBP1 familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "familial prostate cancer caused by mutation in EHBP1",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, 12",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, type 12",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "HPC12",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, type 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "HPC5",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, type 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, susceptibility to, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "HPC3",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, type 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, susceptibility to, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "HPC4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, on chromosome 7",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene."
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "MSMB familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "familial prostate cancer caused by mutation in MSMB",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, type 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "HPC13",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, type 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "HPC8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "predisposing for prostate cancer",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, type 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "HPC6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "HPC10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate carcinoma",
"description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma."
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate carcinoma",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, somatic",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, hereditary",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "HPC7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer aggressiveness",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene."
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "RNASEL familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "familial prostate cancer caused by mutation in RNASEL",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, type 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "HPC1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "Prca1",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "HPC11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "HPC14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "HPC15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "HPCX1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer susceptibility, X-linked",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "HPCX2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MIM:611868",
"resource": "MIM",
"url": "https://www.omim.org/entry/611868",
"name": "Prostate cancer, hereditary, 12",
"description": "Prostate cancer, hereditary, 12"
},
{
"id": "MIM:611928",
"resource": "MIM",
"url": "https://www.omim.org/entry/611928",
"name": "Prostate cancer, hereditary, 13",
"description": "Prostate cancer, hereditary, 13"
},
{
"id": "MIM:176807",
"resource": "MIM",
"url": "https://www.omim.org/entry/176807",
"name": "Prostate cancer",
"description": "Prostate cancer"
},
{
"id": "MIM:601518",
"resource": "MIM",
"url": "https://www.omim.org/entry/601518",
"name": "Prostate cancer, hereditary, 1",
"description": "Prostate cancer, hereditary, 1"
},
{
"id": "MIM:611955",
"resource": "MIM",
"url": "https://www.omim.org/entry/611955",
"name": "Prostate cancer, hereditary, 11",
"description": "Prostate cancer, hereditary, 11"
}
]
},
{
"disease_id": "DOID:363",
"recommended_name": {
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine cancer",
"description": "A female reproductive organ cancer that is located_in the uterus."
},
"synonyms": [
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "CA - cancer of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "Tumour of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterus neoplasm",
"description": ""
}
]
},
{
"disease_id": "DOID:9256",
"recommended_name": {
"id": "DOID:9256",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:9256",
"name": "colorectal cancer",
"description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
},
"synonyms": [
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer",
"description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of colorectum",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, advanced, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer with chromosomal instability, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectum cancer",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectal neoplasm",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectal tumor",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectal tumour",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectum neoplasm",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large bowel neoplasm",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large bowel tumor",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large bowel tumour",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large intestine neoplasm",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large intestine tumor",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large intestine tumour",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of colorectum",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of the large intestine",
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{
"id": "MONDO:0005575",
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{
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{
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},
{
"id": "MONDO:0005575",
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{
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{
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},
{
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},
{
"id": "MONDO:0005575",
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{
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{
"id": "MONDO:0005575",
"resource": "MONDO",
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},
{
"id": "MONDO:0005575",
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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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"database": "UniProtKB",
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{
"database": "PubMed",
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{
"tissue": {
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{
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{
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{
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{
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{
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{
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{
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{
"id": "MONDO:0012741",
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{
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},
{
"id": "MONDO:0012244",
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{
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"name": "prostate cancer, hereditary, 5",
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{
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{
"id": "MONDO:0012244",
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"url": "https://monarchinitiative.org/disease/MONDO:0012244",
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{
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{
"id": "MONDO:0012093",
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{
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{
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{
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{
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},
{
"id": "MONDO:0012094",
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},
{
"id": "MONDO:0012094",
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{
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{
"id": "MONDO:0012094",
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},
{
"id": "MONDO:0012094",
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{
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{
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{
"id": "MONDO:0012758",
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},
{
"id": "MONDO:0012758",
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"description": ""
},
{
"id": "MONDO:0012758",
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},
{
"id": "MONDO:0012758",
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},
{
"id": "MONDO:0011270",
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},
{
"id": "MONDO:0011270",
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},
{
"id": "MONDO:0011270",
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"name": "prostate cancer, hereditary, type 8",
"description": ""
},
{
"id": "MONDO:0011270",
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"description": ""
},
{
"id": "MONDO:0011270",
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"name": "predisposing for prostate cancer",
"description": ""
},
{
"id": "MONDO:0011270",
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},
{
"id": "MONDO:0012300",
"resource": "MONDO",
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"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",
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"name": "HPC6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "HPC10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate carcinoma",
"description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma."
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate carcinoma",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, somatic",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, hereditary",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "HPC7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer aggressiveness",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene."
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "RNASEL familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "familial prostate cancer caused by mutation in RNASEL",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, type 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "HPC1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "Prca1",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "HPC11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "HPC14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "HPC15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "HPCX1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer susceptibility, X-linked",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "HPCX2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MIM:611868",
"resource": "MIM",
"url": "https://www.omim.org/entry/611868",
"name": "Prostate cancer, hereditary, 12",
"description": "Prostate cancer, hereditary, 12"
},
{
"id": "MIM:611928",
"resource": "MIM",
"url": "https://www.omim.org/entry/611928",
"name": "Prostate cancer, hereditary, 13",
"description": "Prostate cancer, hereditary, 13"
},
{
"id": "MIM:176807",
"resource": "MIM",
"url": "https://www.omim.org/entry/176807",
"name": "Prostate cancer",
"description": "Prostate cancer"
},
{
"id": "MIM:601518",
"resource": "MIM",
"url": "https://www.omim.org/entry/601518",
"name": "Prostate cancer, hereditary, 1",
"description": "Prostate cancer, hereditary, 1"
},
{
"id": "MIM:611955",
"resource": "MIM",
"url": "https://www.omim.org/entry/611955",
"name": "Prostate cancer, hereditary, 11",
"description": "Prostate cancer, hereditary, 11"
}
]
}
]
},
{
"significant": "No",
"trend": "up",
"name": "Stomach cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10534",
"evidence": [
{
"database": "BioXpress",
"id": "P09958",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09958"
}
],
"disease": [
{
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"resource": "Disease Ontology",
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},
"synonyms": [
{
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},
{
"id": "DOID:10534",
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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",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant stomach neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of greater curve of stomach",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of greater curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of lesser curve of stomach",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of stomach",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"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",
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"name": "ca greater curvature of stomach",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, intestinal",
"description": ""
},
{
"id": "MIM:613659",
"resource": "MIM",
"url": "https://www.omim.org/entry/613659",
"name": "Gastric cancer",
"description": "Gastric cancer"
}
]
}
]
},
{
"significant": "No",
"trend": "up",
"name": "Urinary bladder cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11054",
"evidence": [
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"database": "BioXpress",
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{
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},
"synonyms": [
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},
{
"id": "DOID:11054",
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"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",
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"name": "tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "bladder cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "cancer of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of bladder",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, urinary bladder",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the urinary bladder",
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},
{
"id": "MONDO:0001187",
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"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",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumor",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumour",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
"description": ""
},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant neoplasm",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumour",
"description": ""
},
{
"id": "MIM:109800",
"resource": "MIM",
"url": "https://www.omim.org/entry/109800",
"name": "Bladder cancer",
"description": "Bladder cancer"
}
]
}
]
},
{
"significant": "No",
"trend": "up",
"name": "Head and neck cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11934",
"evidence": [
{
"database": "BioXpress",
"id": "P09958",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09958"
}
],
"disease": [
{
"disease_id": "DOID:11934",
"recommended_name": {
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck cancer",
"description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx."
},
"synonyms": [
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck tumours",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head/neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"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": "P09958",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09958"
}
],
"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": "P09958",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09958"
}
],
"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": "P09958",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09958"
}
],
"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": "down",
"name": "Kidney cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:263",
"evidence": [
{
"database": "BioXpress",
"id": "P09958",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09958"
}
],
"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": "P09958",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09958"
}
],
"disease": [
{
"disease_id": "DOID:3571",
"recommended_name": {
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "liver cancer",
"description": "A hepatobiliary system cancer that is located_in the liver."
},
"synonyms": [
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "Ca liver - primary",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "Resectable malignant neoplasm of Liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "hepatic cancer",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "hepatic neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant hepato-biliary neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver, primary",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant tumor of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "non-resectable primary hepatic malignant neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "primary liver cancer",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "primary malignant neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "resectable malignant neoplasm of the liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver, not specified as primary or secondary",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Uterine cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:363",
"evidence": [
{
"database": "BioXpress",
"id": "P09958",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09958"
}
],
"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": [
{
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"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
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"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "Tumour of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
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},
{
"id": "DOID:363",
"resource": "Disease Ontology",
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"name": "uterus neoplasm",
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}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Esophageal cancer [DO disease name]",
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"evidence": [
{
"database": "BioXpress",
"id": "P09958",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09958"
}
],
"disease": [
{
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},
"synonyms": [
{
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},
{
"id": "DOID:5041",
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},
{
"id": "DOID:5041",
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"name": "esophagus cancer",
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},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
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},
{
"id": "DOID:5041",
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},
{
"id": "DOID:5041",
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},
{
"id": "DOID:5041",
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"name": "malignant neoplasm of proximal third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of upper third esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of Distal Third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of Proximal Third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
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"name": "malignant tumor of abdominal esophagus",
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},
{
"id": "DOID:5041",
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},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer",
"description": "A primary or metastatic malignant neoplasm involving the esophagus."
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "cancer of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "cancer of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
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"name": "esophageal cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
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"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal squamous cell carcinoma, somatic",
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},
{
"id": "MONDO:0007576",
"resource": "MONDO",
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"name": "esophagus cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
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"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal tumor",
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},
{
"id": "MONDO:0007576",
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"name": "malignant esophageal tumour",
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},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
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"name": "malignant esophagus tumor",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
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"name": "malignant neoplasm of esophagus",
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},
{
"id": "MONDO:0007576",
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},
{
"id": "MONDO:0007576",
"resource": "MONDO",
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"name": "malignant neoplasm of the esophagus",
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},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
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"name": "malignant oesophagus neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant oesophagus tumour",
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},
{
"id": "MONDO:0007576",
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"name": "malignant tumor of esophagus",
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},
{
"id": "MONDO:0007576",
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},
{
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},
{
"id": "MONDO:0007576",
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},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "oesophagus cancer",
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},
{
"id": "MONDO:0007576",
"resource": "MONDO",
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},
{
"id": "MONDO:0007576",
"resource": "MONDO",
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},
{
"id": "MONDO:0007576",
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"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca middle third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca middle third oesophagus",
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},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of distal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
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"name": "malignant neoplasm of distal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
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"name": "malignant neoplasm of lower third of esophagus",
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},
{
"id": "MONDO:0007576",
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"name": "malignant neoplasm of lower third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
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"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of middle third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
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"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of middle third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of proximal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
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},
{
"id": "MONDO:0007576",
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"name": "malignant neoplasm of upper third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
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"name": "malignant neoplasm of upper third oesophagus",
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},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of abdominal esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of distal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of proximal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
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"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of the middle third of the esophagus",
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},
{
"id": "MONDO:0007576",
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"name": "malignant tumour of abdominal oesophagus",
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},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of distal third of oesophagus",
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},
{
"id": "MONDO:0007576",
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"name": "malignant tumour of proximal third of oesophagus",
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},
{
"id": "MONDO:0007576",
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"name": "malignant tumour of the middle third of the oesophagus",
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},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Aerodigestive tract cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0007576",
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"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Escc, susceptibility to",
"description": ""
},
{
"id": "MONDO:0007576",
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"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal squamous cell carcinoma, susceptibility to",
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},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "gastric cardia adenocarcinoma, susceptibility to",
"description": ""
},
{
"id": "MIM:133239",
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}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
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"url": "http://disease-ontology.org/term/DOID:9256",
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{
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],
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{
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},
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},
{
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},
{
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},
{
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},
{
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},
{
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"name": "colon cancer, advanced, somatic",
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},
{
"id": "MONDO:0005575",
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},
{
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},
{
"id": "MONDO:0005575",
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"name": "colorectal cancer with chromosomal instability, somatic",
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},
{
"id": "MONDO:0005575",
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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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"length": 793
},
"evidence": [
{
"id": "45920708",
"url": "http://www.informatics.jax.org/homology/45920708",
"database": "MGI"
},
{
"id": "P09958",
"url": "https://omabrowser.org/oma/group/P09958/",
"database": "OMA"
}
],
"common_name": "Mouse"
},
{
"uniprot_canonical_ac": "P23377-1",
"protein_name": "Furin",
"gene_name": "Furin",
"tax_id": 10116,
"organism": "Rattus norvegicus",
"sequence": {
"sequence": "MELRPWLLWVVAAAGALVLLAAEARGQKIFTNTWAVHISGGPAVADSVARKHGFHNLGQIFGDYYHFWHRAVTKRSLSPHRPRHSRLQRVPQVKWLEQQVAKQRAKRDVYQEPTDPKFPQQWYLSGVTQRDLNVKEAWAQGFTGRGIVVSILDDGIEKNHPDLAGNYDPGASFDVNDQDPDPQPRYTQMNDNRHGTRCAGEVAAVANNGVCGVGVAYNARIGGVRMLDGEVTDAVEARSLGLNPNHIHIYSASWGPEDDGKTVDGPARLAEEAFFRGVSQGRGGLGSIFVWASGNGGREHDSCNCDGYTNSIYTLSISSATQFGNVPWYSEACSSTLATTYSSGNQNEKQIVTTDLRQKCTESHTGTSASAPLAAGIIALTLEANKNLTWRDMQHLVVQTSKPAHLNANDWATNGVGRKVSHSYGYGLLDAGAMVALAQNWTTVAPQRKCIIEILAEPKDIGKRLEVRKTVTACLGEPNHISRLEHVQARLTLSYNRRGDLAIHLISPMGTRSTLLAARPHDYSADGFNDWAFMTTHSWDEDPSGEWVLEIENTSEANNYGTLTKFTLVLYGTASEGLSAPPESSGCKTLTSSQACVVCEEGFSLHQKSCVQRCPPGFTPQVLDTHYSTENDVEIIRASVCTPCHASCATCQGPAPTDCLSCPSHASLDPVEQTCSRQSQSSRESRPQQPPPALRPEVEVEPRLRAGLASHLPEVLAGLSCLIIALIFGIVFLFLHRCSGFSFRGVKVYTMDRGLISYKGLPPEAWQEECPSDSEEDEGRGERTAFIKDQSAL",
"length": 793
},
"evidence": [
{
"id": "45920708",
"url": "http://www.informatics.jax.org/homology/45920708",
"database": "MGI"
}
],
"common_name": "Rat"
}
],
"go_annotation": {
"categories": [
{
"name": "Biological Process",
"total": 30,
"go_terms": [
{
"name": "viral life cycle",
"id": "GO:0019058",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019058",
"evidence": [
{
"database": "UniProtKB",
"id": "P09958",
"url": "https://www.uniprot.org/uniprot/P09958"
}
],
"pmid": ""
},
{
"name": "viral protein processing",
"id": "GO:0019082",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019082",
"evidence": [
{
"database": "UniProtKB",
"id": "P09958",
"url": "https://www.uniprot.org/uniprot/P09958"
}
],
"pmid": ""
},
{
"name": "nerve growth factor production",
"id": "GO:0032902",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032902",
"evidence": [
{
"database": "UniProtKB",
"id": "P09958",
"url": "https://www.uniprot.org/uniprot/P09958"
}
],
"pmid": ""
},
{
"name": "dibasic protein processing",
"id": "GO:0090472",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090472",
"evidence": [
{
"database": "UniProtKB",
"id": "P09958",
"url": "https://www.uniprot.org/uniprot/P09958"
}
],
"pmid": ""
},
{
"name": "protein processing",
"id": "GO:0016485",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016485",
"evidence": [
{
"database": "UniProtKB",
"id": "P09958",
"url": "https://www.uniprot.org/uniprot/P09958"
}
],
"pmid": ""
},
{
"name": "peptide hormone processing",
"id": "GO:0016486",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016486",
"evidence": [
{
"database": "UniProtKB",
"id": "P09958",
"url": "https://www.uniprot.org/uniprot/P09958"
}
],
"pmid": ""
},
{
"name": "extracellular matrix disassembly",
"id": "GO:0022617",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022617",
"evidence": [
{
"database": "UniProtKB",
"id": "P09958",
"url": "https://www.uniprot.org/uniprot/P09958"
}
],
"pmid": ""
},
{
"name": "extracellular matrix organization",
"id": "GO:0030198",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198",
"evidence": [
{
"database": "UniProtKB",
"id": "P09958",
"url": "https://www.uniprot.org/uniprot/P09958"
}
],
"pmid": ""
},
{
"name": "secretion by cell",
"id": "GO:0032940",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032940",
"evidence": [
{
"database": "UniProtKB",
"id": "P09958",
"url": "https://www.uniprot.org/uniprot/P09958"
}
],
"pmid": ""
},
{
"name": "positive regulation of membrane protein ectodomain proteolysis",
"id": "GO:0051044",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051044",
"evidence": [
{
"database": "UniProtKB",
"id": "P09958",
"url": "https://www.uniprot.org/uniprot/P09958"
}
],
"pmid": ""
},
{
"name": "regulation of endopeptidase activity",
"id": "GO:0052548",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052548",
"evidence": [
{
"database": "UniProtKB",
"id": "P09958",
"url": "https://www.uniprot.org/uniprot/P09958"
}
],
"pmid": ""
},
{
"name": "amyloid fibril formation",
"id": "GO:1990000",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990000",
"evidence": [
{
"database": "UniProtKB",
"id": "P09958",
"url": "https://www.uniprot.org/uniprot/P09958"
}
],
"pmid": ""
},
{
"name": "transforming growth factor beta receptor signaling pathway",
"id": "GO:0007179",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007179",
"evidence": [
{
"database": "UniProtKB",
"id": "P09958",
"url": "https://www.uniprot.org/uniprot/P09958"
}
],
"pmid": ""
},
{
"name": "negative regulation of inflammatory response to antigenic stimulus",
"id": "GO:0002862",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002862",
"evidence": [
{
"database": "UniProtKB",
"id": "P09958",
"url": "https://www.uniprot.org/uniprot/P09958"
}
],
"pmid": ""
},
{
"name": "positive regulation of viral entry into host cell",
"id": "GO:0046598",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046598",
"evidence": [
{
"database": "UniProtKB",
"id": "P09958",
"url": "https://www.uniprot.org/uniprot/P09958"
}
],
"pmid": ""
},
{
"name": "regulation of signal transduction",
"id": "GO:0009966",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009966",
"evidence": [
{
"database": "UniProtKB",
"id": "P09958",
"url": "https://www.uniprot.org/uniprot/P09958"
}
],
"pmid": ""
},
{
"name": "negative regulation of low-density lipoprotein particle receptor catabolic process",
"id": "GO:0032804",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032804",
"evidence": [
{
"database": "UniProtKB",
"id": "P09958",
"url": "https://www.uniprot.org/uniprot/P09958"
}
],
"pmid": ""
},
{
"name": "regulation of cholesterol transport",
"id": "GO:0032374",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032374",
"evidence": [
{
"database": "UniProtKB",
"id": "P09958",
"url": "https://www.uniprot.org/uniprot/P09958"
}
],
"pmid": ""
},
{
"name": "collagen catabolic process",
"id": "GO:0030574",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030574",
"evidence": [
{
"database": "UniProtKB",
"id": "P09958",
"url": "https://www.uniprot.org/uniprot/P09958"
}
],
"pmid": ""
},
{
"name": "protein maturation",
"id": "GO:0051604",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051604",
"evidence": [
{
"database": "UniProtKB",
"id": "P09958",
"url": "https://www.uniprot.org/uniprot/P09958"
}
],
"pmid": ""
},
{
"name": "plasma lipoprotein particle remodeling",
"id": "GO:0034369",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034369",
"evidence": [
{
"database": "UniProtKB",
"id": "P09958",
"url": "https://www.uniprot.org/uniprot/P09958"
}
],
"pmid": ""
},
{
"name": "zymogen activation",
"id": "GO:0031638",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031638",
"evidence": [
{
"database": "UniProtKB",
"id": "P09958",
"url": "https://www.uniprot.org/uniprot/P09958"
}
],
"pmid": ""
},
{
"name": "negative regulation of transforming growth factor beta1 production",
"id": "GO:0032911",
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{
"database": "UniProtKB",
"id": "P09958",
"url": "https://www.uniprot.org/uniprot/P09958"
}
],
"pmid": ""
},
{
"name": "peptide biosynthetic process",
"id": "GO:0043043",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043043",
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{
"database": "UniProtKB",
"id": "P09958",
"url": "https://www.uniprot.org/uniprot/P09958"
}
],
"pmid": ""
},
{
"name": "regulation of protein catabolic process",
"id": "GO:0042176",
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{
"database": "UniProtKB",
"id": "P09958",
"url": "https://www.uniprot.org/uniprot/P09958"
}
],
"pmid": ""
},
{
"name": "viral translation",
"id": "GO:0019081",
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{
"database": "UniProtKB",
"id": "P09958",
"url": "https://www.uniprot.org/uniprot/P09958"
}
],
"pmid": ""
},
{
"name": "blastocyst formation",
"id": "GO:0001825",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001825",
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{
"database": "UniProtKB",
"id": "P09958",
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}
],
"pmid": ""
},
{
"name": "signal peptide processing",
"id": "GO:0006465",
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{
"database": "UniProtKB",
"id": "P09958",
"url": "https://www.uniprot.org/uniprot/P09958"
}
],
"pmid": ""
},
{
"name": "cytokine precursor processing",
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"id": "P09958",
"url": "https://www.uniprot.org/uniprot/P09958"
}
],
"pmid": ""
},
{
"name": "proteolysis",
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{
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"id": "P09958",
"url": "https://www.uniprot.org/uniprot/P09958"
}
],
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}
]
},
{
"name": "Molecular Function",
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"name": "nerve growth factor binding",
"id": "GO:0048406",
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{
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"id": "P09958",
"url": "https://www.uniprot.org/uniprot/P09958"
}
],
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},
{
"name": "protease binding",
"id": "GO:0002020",
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}
],
"pmid": ""
},
{
"name": "endopeptidase activity",
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"database": "UniProtKB",
"id": "P09958",
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}
],
"pmid": ""
},
{
"name": "serine-type endopeptidase activity",
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{
"database": "UniProtKB",
"id": "P09958",
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}
],
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},
{
"name": "serine-type endopeptidase inhibitor activity",
"id": "GO:0004867",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004867",
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{
"database": "UniProtKB",
"id": "P09958",
"url": "https://www.uniprot.org/uniprot/P09958"
}
],
"pmid": ""
},
{
"name": "heparin binding",
"id": "GO:0008201",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201",
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{
"database": "UniProtKB",
"id": "P09958",
"url": "https://www.uniprot.org/uniprot/P09958"
}
],
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},
{
"name": "metal ion binding",
"id": "GO:0046872",
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{
"database": "UniProtKB",
"id": "P09958",
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}
],
"pmid": ""
},
{
"name": "heparan sulfate binding",
"id": "GO:1904399",
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{
"database": "UniProtKB",
"id": "P09958",
"url": "https://www.uniprot.org/uniprot/P09958"
}
],
"pmid": ""
},
{
"name": "peptide binding",
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{
"database": "UniProtKB",
"id": "P09958",
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}
],
"pmid": ""
},
{
"name": "peptidase activity",
"id": "GO:0008233",
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"database": "UniProtKB",
"id": "P09958",
"url": "https://www.uniprot.org/uniprot/P09958"
}
],
"pmid": ""
},
{
"name": "serine-type peptidase activity",
"id": "GO:0008236",
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{
"database": "UniProtKB",
"id": "P09958",
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}
],
"pmid": ""
}
]
},
{
"name": "Cellular Component",
"total": 12,
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"name": "Golgi membrane",
"id": "GO:0000139",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139",
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}
],
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},
{
"name": "extracellular region",
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"id": "P09958",
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}
],
"pmid": ""
},
{
"name": "endoplasmic reticulum",
"id": "GO:0005783",
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"id": "P09958",
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}
],
"pmid": ""
},
{
"name": "Golgi lumen",
"id": "GO:0005796",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005796",
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"id": "P09958",
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}
],
"pmid": ""
},
{
"name": "plasma membrane",
"id": "GO:0005886",
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{
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"id": "P09958",
"url": "https://www.uniprot.org/uniprot/P09958"
}
],
"pmid": ""
},
{
"name": "cell surface",
"id": "GO:0009986",
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{
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"id": "P09958",
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}
],
"pmid": ""
},
{
"name": "membrane",
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"id": "P09958",
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}
],
"pmid": ""
},
{
"name": "membrane raft",
"id": "GO:0045121",
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"id": "P09958",
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}
],
"pmid": ""
},
{
"name": "extracellular exosome",
"id": "GO:0070062",
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{
"database": "UniProtKB",
"id": "P09958",
"url": "https://www.uniprot.org/uniprot/P09958"
}
],
"pmid": ""
},
{
"name": "endosome membrane",
"id": "GO:0010008",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008",
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{
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"id": "P09958",
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}
],
"pmid": ""
},
{
"name": "trans-Golgi network",
"id": "GO:0005802",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802",
"evidence": [
{
"database": "UniProtKB",
"id": "P09958",
"url": "https://www.uniprot.org/uniprot/P09958"
}
],
"pmid": ""
},
{
"name": "trans-Golgi network transport vesicle",
"id": "GO:0030140",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030140",
"evidence": [
{
"database": "UniProtKB",
"id": "P09958",
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}
],
"pmid": ""
}
]
}
]
},
"pro_annotation": [],
"site_annotation": [
{
"start_pos": 387,
"end_pos": 389,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 440,
"end_pos": 442,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 553,
"end_pos": 555,
"annotation": "n_glycosylation_sequon"
}
],
"ptm_annotation": [
{
"annotation": "Phosphorylation is required for TGN localization of the endoprotease. In vivo, exists as di-, mono- and non-phosphorylated forms.",
"evidence": [
{
"database": "UniProtKB",
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},
{
"database": "PubMed",
"id": "8846780",
"url": "https://glygen.org/publication/PubMed/8846780"
}
]
},
{
"annotation": "The inhibition peptide, which plays the role of an intramolecular chaperone, is autocatalytically removed in the endoplasmic reticulum (ER) and remains non-covalently bound to furin as a potent autoinhibitor. Following transport to the trans Golgi, a second cleavage within the inhibition propeptide results in propeptide dissociation and furin activation.",
"evidence": [
{
"database": "UniProtKB",
"id": "P09958",
"url": "https://www.uniprot.org/uniprot/P09958"
},
{
"database": "PubMed",
"id": "9130696",
"url": "https://glygen.org/publication/PubMed/9130696"
},
{
"database": "PubMed",
"id": "1629222",
"url": "https://glygen.org/publication/PubMed/1629222"
}
]
}
],
"interactions": [],
"reactions": [
{
"id": "R-HSA-1181152",
"name": "Cleavage of NODAL proprotein",
"equation": "",
"summary": "Either FURIN or PACE4 endoproteases cleave the 321 amino acid NODAL proprotein to yield the 110 amino acid NODAL mature protein. In cultured mouse cells the CRIPTO coreceptor at the plasma membrane recruits both NODAL proprotein and FURIN or PACE4 endoprotease.",
"cellular_location": "extracellular region",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P29122-1",
"P09958-1"
],
"evidence": [
{
"id": "R-HSA-1181152",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181152"
}
]
},
{
"id": "R-HSA-159728",
"name": "Furin cleaves pro-prothrombin to prothrombin",
"equation": "",
"summary": "Furin, associated with the Golgi membrane, cleaves pro-prothrombin to form mature, gamma-carboxylated prothrombin (Wasley et al. 1993).",
"cellular_location": "Golgi lumen, Golgi membrane",
"input_participant_list": [
"R-HSA-159841"
],
"output_participant_list": [
"R-HSA-159759",
"R-HSA-159845"
],
"enzyme_list": [
"P09958-1",
"P00734-1"
],
"evidence": [
{
"id": "R-HSA-159728",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-159728"
}
]
},
{
"id": "R-HSA-159733",
"name": "Furin cleaves pro-factor X to factor X",
"equation": "",
"summary": "Furin, associated with the Golgi membrane, cleaves pro-factor X to form mature, gamma-carboxylated factor X (Wasley et al. 1993).",
"cellular_location": "Golgi lumen, Golgi membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P00742-1",
"P09958-1"
],
"evidence": [
{
"id": "R-HSA-159733",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-159733"
}
]
},
{
"id": "R-HSA-159771",
"name": "Furin cleaves pro-protein C to protein C",
"equation": "",
"summary": "Furin, associated with the Golgi membrane, cleaves pro-protein C to form mature, gamma-carboxylated protein C (Wasley et al. 1993).",
"cellular_location": "Golgi lumen, Golgi membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P09958-1",
"P04070-1"
],
"evidence": [
{
"id": "R-HSA-159771",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-159771"
}
]
},
{
"id": "R-HSA-159773",
"name": "Furin cleaves pro-protein S to protein S",
"equation": "",
"summary": "Furin, associated with the Golgi membrane, cleaves pro-protein S to form mature, gamma-carboxylated protein S (Wasley et al. 1993).",
"cellular_location": "Golgi lumen, Golgi membrane",
"input_participant_list": [],
"output_participant_list": [
"R-HSA-159792",
"R-HSA-159865"
],
"enzyme_list": [
"P09958-1"
],
"evidence": [
{
"id": "R-HSA-159773",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-159773"
}
]
},
{
"id": "R-HSA-159796",
"name": "Furin cleaves pro-factor IX to factor IX",
"equation": "",
"summary": "Furin, associated with the Golgi membrane, cleaves pro-factor IX to form mature, gamma-carboxylated factor IX (Wasley et al. 1993).",
"cellular_location": "Golgi lumen, Golgi membrane",
"input_participant_list": [
"R-HSA-159726"
],
"output_participant_list": [
"R-HSA-159735",
"R-HSA-159822"
],
"enzyme_list": [
"P09958-1",
"P00740-1"
],
"evidence": [
{
"id": "R-HSA-159796",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-159796"
}
]
},
{
"id": "R-HSA-159868",
"name": "Furin cleaves pro-factor VII to factor VII",
"equation": "",
"summary": "Furin, associated with the Golgi membrane, cleaves pro-factor VII to form mature, gamma-carboxylated factor VII (Wasley et al. 1993).",
"cellular_location": "Golgi lumen, Golgi membrane",
"input_participant_list": [],
"output_participant_list": [
"R-HSA-159808",
"R-HSA-159847"
],
"enzyme_list": [
"P09958-1",
"P08709-1"
],
"evidence": [
{
"id": "R-HSA-159868",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-159868"
}
]
},
{
"id": "R-HSA-1602466",
"name": "Activation of MT-MMPs by FURIN",
"equation": "",
"summary": "The membrane-type MMPs (MT-MMPs) MMP14 (MT1-MMP) (Pei et al. 1996, Sato et al. 1996) and MMP16 (MT3-MMP) (Kang et al. 2002) are processed to an active form by furin (Yana & Weiss 2000) and PACE4 (Bassi et al. 2005) within the golgi before secretion. The other MT-MMPs MMP15 (MT2-MMP), MMP17 (MT4-MMP) (Itoh et al. 1999), MMP24 (MT5-MMP) and MMP25 (MT6-MMP) (Starr et al. 2012) are believed to undergo similar processing before membrane association.",
"cellular_location": "Golgi lumen",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P09958-1",
"P51512-1",
"Q9NPA2-1",
"Q9Y5R2-1",
"P50281-1",
"P51511-1",
"Q9ULZ9-1"
],
"evidence": [
{
"id": "R-HSA-1602466",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1602466"
}
]
},
{
"id": "R-HSA-1602484",
"name": "Activation of proMMP11 by FURIN",
"equation": "",
"summary": "proMMP11 has a furin recognition sequence and is activated by furin in the Golgi (Pei & Weiss 1996, Santavicca et al. 1996).",
"cellular_location": "Golgi lumen",
"input_participant_list": [
"R-HSA-1604736"
],
"output_participant_list": [
"R-HSA-1442477"
],
"enzyme_list": [
"P09958-1",
"P24347-1"
],
"evidence": [
{
"id": "R-HSA-1602484",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1602484"
}
]
},
{
"id": "R-HSA-163798",
"name": "Furin cleaves pro-protein Z to protein Z",
"equation": "",
"summary": "Furin, associated with the Golgi membrane, cleaves pro-protein Z to form mature, gamma-carboxylated protein Z (Wasley et al. 1993).",
"cellular_location": "Golgi lumen, Golgi membrane",
"input_participant_list": [
"R-HSA-163827"
],
"output_participant_list": [
"R-HSA-163813",
"R-HSA-163834"
],
"enzyme_list": [
"P09958-1"
],
"evidence": [
{
"id": "R-HSA-163798",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163798"
}
]
},
{
"id": "R-HSA-163843",
"name": "Furin cleaves pro-GAS6 to GAS6",
"equation": "",
"summary": "Furin, associated with the Golgi membrane, cleaves pro-GAS6 to form mature, gamma-carboxylated GAS6 (Wasley et al. 1993).",
"cellular_location": "Golgi lumen, Golgi membrane",
"input_participant_list": [],
"output_participant_list": [
"R-HSA-163840",
"R-HSA-163844"
],
"enzyme_list": [
"P09958-1"
],
"evidence": [
{
"id": "R-HSA-163843",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163843"
}
]
},
{
"id": "R-HSA-170844",
"name": "Latent TGF-beta-1 is cleaved by FURIN",
"equation": "",
"summary": "In the Golgi apparatus, TGF-beta-1 (TGFB1) is activated by furin protease cleavage of the N-terminal pro-peptide portion. This leads to the formation of the N-terminal disulphide-linked dimeric pro-peptides, also known as latency-associated proteins (LAPs) and the C-terminal mature disulphide-linked dimeric TGF-beta-1 (Dubois et al. 1995, Dubois et al. 2001, Leitlein et al. 2001). However, the N- and C-terminal polypeptides do not physically separate. Rather they stay in one complex. In addition, the LAP forms disulphide links with separate secreted proteins, the Latent TGF-beta binding proteins (LTBPs). LTBPs-linked to LAP and the non-covalently linked mature TGF-beta-1 remain together and form the large latent complex (LLC) (Annes et al. 2003).",
"cellular_location": "Golgi lumen, Golgi membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P09958-1"
],
"evidence": [
{
"id": "R-HSA-170844",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-170844"
}
]
},
{
"id": "R-HSA-171288",
"name": "Cleavage of the viral Env gp160 precursor polyprotein",
"equation": "",
"summary": "The trimeric gp160 complexes are cleaved into the gp41 and gp120 subunits by the cellular protease furin.",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P09958-1"
],
"evidence": [
{
"id": "R-HSA-171288",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-171288"
}
]
},
{
"id": "R-HSA-186785",
"name": "PDGF-AA clevage by Furin",
"equation": "",
"summary": "After dimerization of the PDGF-A and PDGF-B chains in the ER of producing cells, the dimers are proteolytically cleaved in the trans-Golgi network during protein maturation and secretion. The dibasic-specific proprotein convertase, furin, or related convertases are involved in the conversion of proPDGF forms to active PDGF forms. PDGF-A chains are expressed as two different isoforms, a longer and a shorter form.The longer (241 aa) is less common and differs from the shorter one (196 aa) by a C-terminal extension of 18 aa (Beckmann et al. 1988, Ostman et al. 1992). The PDGF-A chains are cleaved singly at the RRKR sequence at 86 position to yield predominantly, the secreted PDGF-AA forms, while PDGF-BB are reported that at least three forms of PDGF-BB can be formed (Seidah & Prat 2002). This includes an approx 24 kDa form retained intracellularly and degraded in lysosomes, a secreted approx 30 kDa form and an approx 40 kDa cell surface-associated form. PDGF-B is processed at the 'RGRR' sequence at position 81 and a second clevage close to residues 'ARPVT' at position 190 (Siegfried et al. 2005, Ostman et al. 1992, Heldin & Westermark 1999).",
"cellular_location": "Golgi membrane, extracellular region",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P09958-1"
],
"evidence": [
{
"id": "R-HSA-186785",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186785"
}
]
},
{
"id": "R-HSA-187020",
"name": "Part of pro-beta-NGF is processed to mature beta-NGF",
"equation": "",
"summary": "The pro-neurotrophins are rapidly cleaved intra-cellularly by furin or the pro-protein convertases at a highly conserved site, to produce the mature protein of 12-14 kDa in size (mature NGF or beta-NGF: 12.5 kDa). Furin, PACE4 and PC7 belong to the constitutive secretory pathway; NEC1/PC1, NEC2/PC2, PC4 and PC5 are instead targeted to regulated secretory granules. Furin is expressed ubiquitously in all tissues, whereas NEC1 and NEC2 are the dominant pro-protein convertases in neurons. The mature neurotrophins can be stored within neurons and released extra-cellularly upon stimulation.
Cells, however, appear to have a limited capacity to process pro-neurotrophins, a capacity that may be exhausted when they are produced in excess (Matsumoto T et al, 2008). In this case, the proforms of NGF and BDNF are secreted and cleaved extracellularly by the serine protease plasmin and by selective matrix metalloproteinases (MMPs). The signalling capacities of pro-neurotrophins and mature neurotrophins are markedly different. The pro-neurotrophins are high affinity ligands for p75NTR and can induce p75NTR dependent apoptosis in cultured neurons with minimal activation of TRK receptor mediated differentiation or survival. The biological action of neurotrophins may thus be regulated by proteolytic cleavage, with proforms preferentially activating p75NTR to mediate apoptosis and mature forms activating TRK receptors to promote survival.
It is possible that pro-neurotrophins may somehow be released during development and eliminate neurons in a p75NTR dependent fashion. Substantial quantities of proNGF are found in the cerebrospinal fluid of adult rodents after brain injury, perhaps following NGF expression by inflammatory cells that may not efficiently process pro-neurotrophins. When proBDNF is added as recombinant protein, activation of p75NTR by proBDNF facilitates hippocampal long-term depression (LTD; Woo NH et al, 2005). However, it is unclear whether proBDNF plays any role in LTD under physiological conditions.",
"cellular_location": "Golgi lumen",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P29122-1",
"Q92824-1",
"P09958-1"
],
"evidence": [
{
"id": "R-HSA-187020",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-187020"
}
]
},
{
"id": "R-HSA-1912369",
"name": "NOTCH precursor cleaved to form mature NOTCH",
"equation": "",
"summary": "The NOTCH receptor is synthesized as a precursor polypeptide (approx. 300 kDa) associated with the endoplasmic reticulum membrane. The mature NOTCH receptor is produced by proteolytic cleavage to form a heterodimer. The enzyme responsible is a furin-like convertase which cleaves the full-length precursor into a transmembrane fragment (NTM) of approximate size 110 kDa and an extracellular fragment (NEC) of approximate size 180 kDa. The mature NOTCH receptor is reassembled as a heterodimer (Blaumueller et al. 1997, Logeat et al. 1998). Both disulfide bonds and calcium-mediated ionic interactions stabilize the heterodimer (Rand et al. 2000, Gordon et al. 2009). This process takes place in the trans-Golgi network . Mammalian NOTCH is predominantly presented as a heterodimer on the cell surface. Although FURIN-mediated cleavage is evolutionarily conserved, it may not be mandatory for Drosophila Notch function (Kidd et al. 2002).",
"cellular_location": "Golgi membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P09958-1"
],
"evidence": [
{
"id": "R-HSA-1912369",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1912369"
}
]
},
{
"id": "R-HSA-1912372",
"name": "Fringe-modified Pre-NOTCH is cleaved by FURIN",
"equation": "",
"summary": "Cleavage of fringe-modified NOTCH by FURIN has not been examined directly, but since mature, plasma membrane-anchored NOTCH receptors are typically cleaved by FURIN (Blaumueller et al. 1997) and fringe-modified NOTCH functions at the cell surface (Moloney et al. 2000), it is expected that fringe-modified NOTCH is processed by FURIN cleavage. The exact order of fringe-mediated glycosylation and FURIN cleavage has not been experimentally established, but since FURIN localizes to the trans-Golgi network -TGN (Teuchert et al. 1999), while fringe has not been associated with TGN, it is likely that modification of NOTCH by fringe enzymes precedes FURIN-mediated cleavage.",
"cellular_location": "Golgi membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P09958-1"
],
"evidence": [
{
"id": "R-HSA-1912372",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1912372"
}
]
},
{
"id": "R-HSA-2129357",
"name": "Fibrillin C-terminal processing",
"equation": "",
"summary": "Extracellular deposition of fibrillin requires removal of the C-terminus, which can be cleaved in vitro by several furin/PACE family convertases (Raghunath et al. 1999, Ritty et al. 1999) in a process that is inhibited by N-glycosylation and calreticulin (Ashworth et al. 1999). Furin (PACE) is a transmembrane protein, synthesized as a 100 kDa protein, which rapidly undergoes autocatalytic cleavage to a 94 kDa protein in the endoplasmic reticulum (ER). The propeptide remains bound as an auto-inhibitor. Propeptide release occurs in the acidic pH of the trans-golgi-network (TGN)/endosomal compartment, activating furin. Though furin is primarily localized to the TGN a proportion of furin molecules are found on the cell surface (Teuchert et al. 1999). Profibrillin-1 processing does not occur in the TGN, where it is bound by two ER-resident molecular chaperones, BiP and GRP94. Instead activation by furin occurs as profibrillin-1 is secreted, or immediately after secretion (Wallis et al. 2003).",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P09958-1"
],
"evidence": [
{
"id": "R-HSA-2129357",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2129357"
}
]
},
{
"id": "R-HSA-2172405",
"name": "Collagen type XXIII ectodomain shedding",
"equation": "",
"summary": "Collagen type XXIII is a type II transmembrane collagen with a relatively small ectodomain. It exists in a membrane-bound form and a shed form, cleaved by furin (Veit et al. 2007). Both forms can bind alpha2beta1 integrin via the ectodomain, stimulating the formation of focal adhesion plaques (Veit et al. 2011).",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P09958-1"
],
"evidence": [
{
"id": "R-HSA-2172405",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2172405"
}
]
},
{
"id": "R-HSA-2471842",
"name": "Collagen type XXV ectomain shedding",
"equation": "",
"summary": "Identified as a component of amyloid plaques in Alzheimer's brain, the ectodomain of type XXV collagen (known as CLAC) is released by furin convertase activity (Hashimoto et al. 2002). The presence of CLAC leads to Abeta fibril bundles that have an increased resistance to proteases (S\u00f6derberg et al. 2005).",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P09958-1"
],
"evidence": [
{
"id": "R-HSA-2471842",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2471842"
}
]
},
{
"id": "R-HSA-5210912",
"name": "Furin cleaves ANTXR2-bound pagA to yield pagA(197-794)",
"equation": "",
"summary": "Furin or a related protease at the cell surface cleaves ANTXR2-bound pagA (Anthrax Protective Antigen, full-length). The larger cleavage product, pagA(197-794), remains bound to the receptor while a smaller product, pagA(30-196), is released into the extracellular space (Klimpel et al, 1992; Molloy et al. 1992).",
"cellular_location": "extracellular region, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P09958-1"
],
"evidence": [
{
"id": "R-HSA-5210912",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5210912"
}
]
},
{
"id": "R-HSA-5210935",
"name": "Furin cleaves ANTXR1-bound pagA to yield pagA(197-794)",
"equation": "",
"summary": "Furin or a related protease at the cell surface cleaves ANTXR1-bound pagA (Anthrax Protective Antigen, full-length). The larger cleavage product, pagA(197-794), remains bound to the receptor while a smaller product, pagA(30-196), is released into the extracellular space (Klimpel et al, 1992; Molloy et al. 1992).",
"cellular_location": "extracellular region, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P09958-1"
],
"evidence": [
{
"id": "R-HSA-5210935",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5210935"
}
]
},
{
"id": "R-HSA-5693081",
"name": "FURIN cleaves 7K-BACE1 to 7K-BACE1(46-501)",
"equation": "",
"summary": "FURIN is the most likely endopeptidase that cleaves the BACE propeptide domain (BACE1(22-45)) to form the mature enzyme (7K-BACE1(46-501). Although the pro-enzyme possesses proteolytic activity, this activity is approximately doubled following removal of the prodomain (Bennett et al. 2000).",
"cellular_location": "Golgi membrane, Golgi-associated vesicle lumen",
"input_participant_list": [
"R-HSA-5693095"
],
"output_participant_list": [
"R-HSA-5693069"
],
"enzyme_list": [
"P09958-1",
"P56817-1"
],
"evidence": [
{
"id": "R-HSA-5693081",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693081"
}
]
},
{
"id": "R-HSA-6784628",
"name": "PCSK6,FURIN mediate dissociation of 2 x LPL from GPIHBP1:HSPG:LPL dimer",
"equation": "",
"summary": "LPL enzyme is catalytically active as a dimer composed of two glycosylated subunits of LPL connected in a head-to-tail arrangement by non-covalent interactions. Dimeric LPL is cleaved by several proprotein convertases. FURIN and proprotein convertase subtilisin/kexin type 6 (PCSK6 aka PACE4) can cleave LPL dimer, inactivating it, resulting in subsequent increase in plasma TG concentrations (Siezen et al. 1994, Bassi et al. 2000, Jin et al. 2005). Endogenous modulators of LPL are the angiopoietin-like proteins ANGPTL3 and ANGPTL4, which can bind transiently to LPL dimer, resulting in conversion of the enzyme from a catalytically active dimer to inactive, but still folded, monomers (Liu et al. 2010, Sukonina et al. 2006). ANGPTL4 regulates plasma triglyceride concentration via the inhibition of LPL (Dijk & Kersten 2014). GWAS studies (Dewey et al. 2016, MIG and CARDIoGRAM Consortium 2016) show a strong correlation between inactivating ANGPTL4 mutants and lower levels of triglycerides and lower risk of coronary artery disease than non-carriers. Therapeutic modulation of ANGPTL4 could be a new strategy against dyslipidemia (Kersten 2016).",
"cellular_location": "extracellular region, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P29122-1",
"P09958-1",
"P06858-1"
],
"evidence": [
{
"id": "R-HSA-6784628",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784628"
}
]
},
{
"id": "R-HSA-6807224",
"name": "Furin cleaves pro-BGLAP to BGLAP",
"equation": "",
"summary": "Furin, associated with the Golgi membrane, cleaves pro-BGLAP to form mature, gamma-carboxylated BGLAP (osteocalcin) (Wasley et al. 1993).",
"cellular_location": "Golgi lumen, Golgi membrane",
"input_participant_list": [],
"output_participant_list": [
"R-HSA-6807222",
"R-HSA-6807225"
],
"enzyme_list": [
"P09958-1"
],
"evidence": [
{
"id": "R-HSA-6807224",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807224"
}
]
},
{
"id": "R-HSA-8849797",
"name": "Membrane proteases cleave Profilaggrin producing Filaggrin",
"equation": "",
"summary": "Filaggrin is initially synthesized as a large, insoluble, highly phosphorylated precursor containing many tandem copies of 324 residues. This precursor is dephosphorylated and proteolytically cleaved by several proteases, including the undefined protease PEP1 (Resing et al. 1996), mu-calpain (Yamazaki et al. 1997), furin, PCSK6 (PACE4) (Pearton et al. 2001), PRSS8 (cap1) (Leyvraz et al. 2005), ST14 (matriptase) (List et al. 2003), CELA2 (Bonnart et al. 2010), CASP14 (Denecker et al. 2007) and Kallikrein-related peptidase 5 (KLK5) (Sakabe et al. 2013). Filaggrin is further processed and proteolytically degraded by CASP14 (Eckhart & Tschachler 2011).",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [
"R-HSA-8849818"
],
"output_participant_list": [
"R-HSA-6810859"
],
"enzyme_list": [
"P29122-1",
"Q9Y5Y6-1",
"P09958-1",
"Q16651-1"
],
"evidence": [
{
"id": "R-HSA-8849797",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8849797"
}
]
},
{
"id": "R-HSA-8865275",
"name": "PDGF-BB clevage by Furin",
"equation": "",
"summary": "After dimerization of the PDGF-A and PDGF-B chains in the ER of producing cells, the dimers are proteolytically cleaved in the trans-Golgi network during protein maturation and secretion. The dibasic-specific proprotein convertase, furin, or related convertases are involved in the conversion of proPDGF forms to active PDGF forms. PDGF-A chains are expressed as two different isoforms, a longer and a shorter form.The longer (241 aa) is less common and differs from the shorter one (196 aa) by a C-terminal extension of 18 aa (Beckmann et al. 1988, Ostman et al. 1992). The PDGF-A chains are cleaved singly at the RRKR sequence at 86 position to yield predominantly, the secreted PDGF-AA forms, while PDGF-BB are reported that at least three forms of PDGF-BB can be formed (Seidah & Prat 2002). This includes an approx 24 kDa form retained intracellularly and degraded in lysosomes, a secreted approx 30 kDa form and an approx 40 kDa cell surface-associated form. PDGF-B is processed at the 'RGRR' sequence at position 81 and a second clevage close to residues 'ARPVT' at position 190 (Siegfried et al. 2005, Ostman et al. 1992, Heldin & Westermark 1999).",
"cellular_location": "Golgi membrane, extracellular region",
"input_participant_list": [
"R-HSA-380748"
],
"output_participant_list": [
"R-HSA-184206"
],
"enzyme_list": [
"P09958-1"
],
"evidence": [
{
"id": "R-HSA-8865275",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8865275"
}
]
},
{
"id": "R-HSA-8865276",
"name": "PDGF-AB clevage by Furin",
"equation": "",
"summary": "After dimerization of the PDGF-A and PDGF-B chains in the ER of producing cells, the dimers are proteolytically cleaved in the trans-Golgi network during protein maturation and secretion. The dibasic-specific proprotein convertase, furin, or related convertases are involved in the conversion of proPDGF forms to active PDGF forms. PDGF-A chains are expressed as two different isoforms, a longer and a shorter form.The longer (241 aa) is less common and differs from the shorter one (196 aa) by a C-terminal extension of 18 aa (Beckmann et al. 1988, Ostman et al. 1992). The PDGF-A chains are cleaved singly at the RRKR sequence at 86 position to yield predominantly, the secreted PDGF-AA forms, while PDGF-BB are reported that at least three forms of PDGF-BB can be formed (Seidah & Prat 2002). This includes an approx 24 kDa form retained intracellularly and degraded in lysosomes, a secreted approx 30 kDa form and an approx 40 kDa cell surface-associated form. PDGF-B is processed at the 'RGRR' sequence at position 81 and a second clevage close to residues 'ARPVT' at position 190 (Siegfried et al. 2005, Ostman et al. 1992, Heldin & Westermark 1999).",
"cellular_location": "Golgi membrane, extracellular region",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P09958-1"
],
"evidence": [
{
"id": "R-HSA-8865276",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8865276"
}
]
},
{
"id": "R-HSA-9662786",
"name": "FURIN cleaves ADAM17",
"equation": "",
"summary": "Disintegrin and metalloproteinase domain-containing protein 17 (ADAM17) is a type I transmembrane protein that consist of an N-terminal signal sequence followed by a prodomain, a metalloproteinase (catalytic) domain, a disintegrin domain, an EGF-like (cysteine-rich) domain, a single transmembrane domain and a cytoplasmic domain (Scheller et al. 2011, Lambrecht et al. 2018). While ADAM17 is being transported through the trans-Golgi network, FURIN cleaves the prodomain region of ADAM17 releasing the inhibitory part (Milla et al. 1999, Gonzales et al. 2004, Wong et al. 2015) and leaving the catalytically-active form (ADAM17(215-827) (Srour et al. 2003, Endres et al. 2003, Adrain et al. 2012, McIlwain et al. 2012, Wong et al. 2015).",
"cellular_location": "Golgi membrane",
"input_participant_list": [],
"output_participant_list": [
"R-HSA-9662784",
"R-HSA-9662839"
],
"enzyme_list": [
"P09958-1",
"P78536-1"
],
"evidence": [
{
"id": "R-HSA-9662786",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9662786"
}
]
},
{
"id": "R-HSA-9683546",
"name": "FURIN binds furin inhibitors",
"equation": "",
"summary": "Furin and related proprotein convertases (PCs) cleave the multibasic motifs R-X-R/K/X-R in precursor proteins, transforming latent proproteins into biologically active proteins and peptides. Furin is present both in the intracellular secretory pathway and at the cell surface. Intracellular furin processes its multiple normal cellular targets in the Golgi and secretory vesicle compartments. Cell surface furin-mediated cleavage of coat proteins of viral pathogens including influenza A-H5N1 (bird flu), flaviviruses, and Marburg and Ebola viruses and of anthrax and botulinum toxins, enables entry into host cells to cause disease onset (Braun & Sauter 2019). Cell surface furin inhibitors capric acid, pirfenidone (Burghardt et al. 2007) and MI-1148 (Hardes et al. 2015) inhibit furin activity thereby exhibiting a protective effect against some toxins and inhibiting the spread of several pathogenic viruses (Hardes et al. 2015). Inhibitors of PCs represent a potential therapeutic anti-SARS activity (Bergeron et al. 2005, Izaguirre 2019).",
"cellular_location": "extracellular region, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P09958-1"
],
"evidence": [
{
"id": "R-HSA-9683546",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9683546"
}
]
},
{
"id": "R-HSA-9698988",
"name": "Direct Host Cell Membrane Membrane Fusion and Release of SARS-CoV-2 Nucleocapsid",
"equation": "",
"summary": "SARS-CoV-2 virions attached to the host cell surface via a complex involving viral spike (S) protein and host angiotensin-converting enzyme 2 (ACE2) can directly fuse their membrane with the host cell membrane, releasing the uncoated virion nucleocapsid into the cytoplasm. The process starts with the spike protein undergoing cleavage by furin into S1/S2, followed by cleavage of S2 catalyzed by TMPRSS2, freeing the fusion peptide (FP) which mediates membrane fusion.; ; Heparin binding to SARS-CoV-2 spike (S) effectively inhibits its cleavage into S1, S2 by furin. Unfractionated heparin (UFH) exhibits a higher furin inhibitory potency than the low-molecular-weight heparin (LMWH) (Paiardi et al, 2021). However, cleavage at the S1/S2 site occurs to some extent even if furin is absent, presumably due to the action of other proprotein convertases (Papa et al, 2021; Jaimes et al, 2020; reviewed by Takeda, 2022).;",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P09958-1",
"Q9BYF1-1",
"O15393-1"
],
"evidence": [
{
"id": "R-HSA-9698988",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9698988"
}
]
},
{
"id": "R-HSA-9699007",
"name": "FURIN Mediated SARS-CoV-2 Spike Protein Cleavage and Endocytosis",
"equation": "",
"summary": "In a SARS-CoV-2 infection the cellular protease furin cleaves the spike protein at the S1/S2 site and that cleavage is essential for S-protein-mediated cell-cell fusion and entry into human lung cells. The furin cleavage site promotes increased spike cleavage that has implications for pathogenesis (Hoffman et al. 2020; Johnson et al, 2021). Furin is associated with the plasma membrane of the host cell and mediates the hydrolytic cleavage of SARS-CoV-2 Spike (S) protein component of the viral membrane-associate S3:M:E:encapsidated SARS coronavirus genomic RNA: 7a:O-glycosyl 3a tetramer complex associated with ACE2. Spike cleavage by furin is affected by O-glycosylations around the cleavage site at position 685-686. In particular the P681 mutation, which occurs in the SARS-CoV-2 alpha and delta variants, results in decreased O-glycosylation, increased furin cleavage, and increased syncytia formation which may contribute to increased viral infectivity (Zhang et al, 2021a).
Neuropilin-1 (NRP1) is a receptor expressed in a broad range of cells from human organ systems including respiratory, urinary, digestive, reproductive, and immune systems. Specific cell lines from these organs are susceptible to SARS-CoV-2 infection. From these A549 (lung) and HRC45 (kidney) cells had a robust SARS\u2010CoV\u20102 pseudovirus infection but weak levels of ACE2, and both expressed strong levels of NRP1 (Zhang et al, 2021b). High levels of NRP1 were detected in the epithelial surface layer of the human respiratory and olfactory epithelium, with ACE2 hardly detectable in these tissues. Artificial additional NRP1 expression in Caco-2 and HEK-293T cells increased SARS-CoV-2 infection markedly (Cantuti-Castelvetri et al, 2020; Zhu et al, 2021). The furin-cleaved SARS-CoV-2 spike glycoprotein fragment S1 binds NRP1, and selective NRP1 inhibitors reduced SARS-CoV-2 entry and infectivity in Caco-2 cell culture (Daly et al, 2020). Taken together, NRP1 appears to be the entry factor on NRP1-rich cells, and a weak entry factor on cells where ACE2 is present.
Several cell lines also have relatively higher levels of Hepatitis A virus cellular receptor 1 (kidney injury molecule-1, HAVCR1, KIM1, TIM1), a membrane protein upregulated upon kidney injury. Recombinant HAVCR1 blocked infection of both SARS\u2010CoV\u20102 and SARS\u2010CoV pseudoviruses in a dose\u2010dependent fashion in one\u2010way ANOVA analysis albeit no significant difference was detected when the treated groups were compared with the untreated infected group (Zhang et al, 2021b). HAVCR1 binds to SARS-CoV-2 spike glycoprotein. Uptake of spike virosomes by lung and kidney epithelial cells that naturally express HAVCR1 was inhibited by anti-HAVCR1 antibodies and a HAVCR1 inhibitor (Mori et al, 2022; Yang et al, 2021).
Heparin effectively inhibits SARS-CoV-2 spike (S) cleavage into S1, S2 by furin. Unfractionated heparin (UFH) exhibits a higher furin inhibitory potency than the low-molecular-weight heparin (LMWH) (Paiardi et al, 2021).
",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P09958-1",
"Q9BYF1-1"
],
"evidence": [
{
"id": "R-HSA-9699007",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9699007"
}
]
},
{
"id": "R-HSA-9733203",
"name": "FURIN gene transcription is stimulated by SMAD2/SMAD3:SMAD4",
"equation": "",
"summary": "TGFB1 increases the expression of furin in rat synoviocytes (Blanchette et al. 1997). TGFB1 and TGFB2 increase the expression of FURIN in human bronchial epithelial cells (O'Sullivan et al. 2021). FURIN gene (also known as Fur, for fes upstream region) is regulated via three alternative promoters, P1, P1A and P1B. All three promoters are responsive to stimulation with TGFB1 in a SMAD2- and SMAD4-dependent manner, with the P1 promoter being the most sensitive (Blanchette et al. 2001). There exists differential accumulation of FURIN mRNA to TGF\u03b21 in different cell types, with some cell types (e.g., HepG2) responding better than others. The role of SMAD2 and SMAD3 also seems to be cell type-dependent, because in ovarian granulosa-lutein cells FURIN expression is dependent on SMAD3 but not on SMAD2 (Yin et al. 2020). Direct binding of SMADs to the FURIN promoter has not been demonstrated, although SMAD response elements are present (Blanchette et al. 2001).",
"cellular_location": "nucleoplasm",
"input_participant_list": [
"R-HSA-8981023"
],
"output_participant_list": [
"R-HSA-157049"
],
"enzyme_list": [
"P09958-1"
],
"evidence": [
{
"id": "R-HSA-9733203",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9733203"
}
]
},
{
"id": "R-HSA-9736953",
"name": "FURIN translocates to the plasma membrane",
"equation": "",
"summary": "While FURIN mainly localizes to the Golgi apparatus/trans-Golgi network sites (TGN), it also localizes to the plasma membrane and endosomes and cycles between these subcellular compartments (Mayer et al. 2004).",
"cellular_location": "Golgi membrane, plasma membrane",
"input_participant_list": [],
"output_participant_list": [
"R-HSA-2159856"
],
"enzyme_list": [
"P09958-1"
],
"evidence": [
{
"id": "R-HSA-9736953",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9736953"
}
]
},
{
"id": "R-HSA-9769949",
"name": "FURIN Mediated SARS-CoV-2 Spike Protein Cleavage",
"equation": "",
"summary": "In a SARS-CoV-2 infection the cellular protease furin cleaves the spike protein at the S1/S2 site and that cleavage is essential for S-protein-mediated cell-cell fusion and entry into human lung cells. The furin cleavage site promotes increased spike cleavage that has implications for pathogenesis (Hoffman et al. 2020; Johnson et al, 2021). Furin is associated with the plasma membrane of host cells and mediates the hydrolytic cleavage of SARS-CoV-2 Spike (S) protein associated with ACE2. Spike cleavage by furin is affected by O-glycosylations around the cleavage site at position 685-686. In particular the P681 mutation, which occurs in the SARS-CoV-2 alpha and delta variants, results in decreased O-glycosylation, increased furin cleavage, and increased syncytia formation which may contribute to increased viral infectivity (Zhang et al, 2021a).
Heparin binding to SARS-CoV-2 spike (S) effectively inhibits its cleavage into S1, S2 by furin. Unfractionated heparin (UFH) exhibits a higher furin inhibitory potency than the low-molecular-weight heparin (LMWH) (Paiardi et al, 2021).; ; However, cleavage at the S1/S2 site occurs to some extent even if furin is absent, presumably due to the action of other proprotein convertases (Papa et al, 2021; Jaimes et al, 2020; reviewed by Takeda, 2022). Additionally it appears that, in the absence of furin-mediated priming of S, TMPRSS2 promotes the secretion of a shed form of ACE2 (sACE2) that favors cell-to-cell fusion (Essalmani et al, 2022).;",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P09958-1",
"Q9BYF1-1"
],
"evidence": [
{
"id": "R-HSA-9769949",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9769949"
}
]
},
{
"id": "R-HSA-9829200",
"name": "F0 is cleaved, releasing F1, F2, F(110-136)",
"equation": "",
"summary": "Human respiratory syncytial virus (hRSV) A fusion protein precursor F0 is cleaved shortly before or during transit to the host cell plasma membrane, resulting in three fragments: the F subunits, F1 and F2, and the p27 peptide. At both cleavage sites, motifs typically recognized by furin-like proteases are found. The actual responsible protease is unknown. Cleavage into F1 and F2 is necessary to form the F1-F2 subunit of the F trimer, which catalyzes both virion-cell and cell-cell membrane fusion (Elango et al, 1985; Collins & Mottet, 1991; Gonzalez-Reyes et al, 2001).",
"cellular_location": "trans-Golgi network membrane",
"input_participant_list": [
"R-RSY-9829024"
],
"output_participant_list": [
"R-RSY-9829162",
"R-RSY-9829176",
"R-RSY-9829179"
],
"enzyme_list": [
"P09958-1"
],
"evidence": [
{
"id": "R-HSA-9829200",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9829200"
}
]
},
{
"id": "R-HSA-9837707",
"name": "Release of hRSV A nucleocapsid from macropinosome",
"equation": "",
"summary": "Similar to endosomes, macropinosomes gradually acidify, acquiring RAB5 followed by RAB7 before fusing with endolysosomes. Human respiratory syncytial virus (RSV) A co-localizes with RAB5-positive macropinosomes and depends on the GTPase activity of RAB5 for infection of host cells, but not on the activity of RAB7. Co-localization of RSV with RAB7 was only observed when RAB5 was defective, and full maturation of macropinosomes was not required for RSV infection, indicating that the RSV membrane fuses with the macropinosome membrane during maturation of RAB5-positive macropinosomes, releasing the ribonucleocapsid (RNP) into the cytosol of the host cell (Krzyzaniak et al. 2013). RAB5C was independently shown to be important for RSV infection (Li et al. 2020), supporting the involvement of RAB5-positive macropinosomes. The release of RSV from RAB5-positive macropinosomes requires the activity of FURIN-like convertase that cleaves the mature F protein (F1-F2 peptide), releasing a glycosylated peptide of 27 amino acids (p27) to allow the fusion of the viral membrane with the macropinosomes membrane (Krzyzaniak et al. 2013). FURIN-mediated cleavage of F1-F2 mature form of F protein with the release of glycosylated p27 fragment was previously reported to be needed for RSV-mediated syncytia formation (Zimmer et al. 2001)",
"cellular_location": "cytosol, macropinosome membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P09958-1"
],
"evidence": [
{
"id": "R-HSA-9837707",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837707"
}
]
}
],
"reaction_participants": [
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"participant_id": "R-HSA-1442477",
"participant_name": "MMP11 [extracellular region]",
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"database": "PDB",
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"database": "ZINC - Substances",
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"url": ""
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"url": ""
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"database": "ZINC - Predictions - Purchasable",
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