{
"uniprot_canonical_ac": "O15393-1",
"uniprot_ac": "O15393",
"uniprot_id": "TMPS2_HUMAN",
"mass": {
"chemical_mass": 53859.0,
"monoisotopic_mass": 53859.0
},
"refseq": {
"ac": "NP_001128571",
"name": "transmembrane protease serine 2 isoform 1",
"summary": "This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a type II transmembrane domain, a receptor class A domain, a scavenger receptor cysteine-rich domain and a protease domain. Serine proteases are known to be involved in many physiological and pathological processes. This gene was demonstrated to be up-regulated by androgenic hormones in prostate cancer cells and down-regulated in androgen-independent prostate cancer tissue. The protease domain of this protein is thought to be cleaved and secreted into cell media after autocleavage. This protein also facilitates entry of viruses into host cells by proteolytically cleaving and activating viral envelope glycoproteins. Viruses found to use this protein for cell entry include Influenza virus and the human coronaviruses HCoV-229E, MERS-CoV, SARS-CoV and SARS-CoV-2 (COVID-19 virus). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2020].",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128571"
},
"gene_names": [
{
"name": "TMPRSS2",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/O15393",
"id": "O15393"
},
{
"name": "PRSS10",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128571",
"id": "NP_001128571"
},
{
"name": "PRSS10",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/O15393",
"id": "O15393"
},
{
"name": "TMPRSS2",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128571",
"id": "NP_001128571"
}
],
"protein_names": [
{
"name": "Transmembrane protease serine 2",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "O15393"
},
{
"name": "3.4.21.122",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O15393"
},
{
"name": "Serine protease 10",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O15393"
},
{
"name": "epitheliasin; serine protease 10; transmembrane protease, serine 2",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128571",
"id": "NP_001128571"
},
{
"name": "transmembrane protease serine 2 isoform 1",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128571",
"id": "NP_001128571"
}
],
"function": [
{
"annotation": "(Microbial infection) Facilitates human coronaviruses SARS-CoV and SARS-CoV-2 infections via two independent mechanisms, proteolytic cleavage of ACE2 receptor which promotes viral uptake, and cleavage of coronavirus spike glycoproteins which activates the glycoprotein for host cell entry (PubMed:24227843, PubMed:32142651, PubMed:32404436, PubMed:34159616, PubMed:33051876). The cleavage of SARS-COV2 spike glycoprotein occurs between the S2 and S2' site (PubMed:32703818). Upon SARS-CoV-2 infection, increases syncytia formation by accelerating the fusion process (PubMed:34159616, PubMed:33051876). Proteolytically cleaves and activates the spike glycoproteins of human coronavirus 229E (HCoV-229E) and human coronavirus EMC (HCoV-EMC) and the fusion glycoproteins F0 of Sendai virus (SeV), human metapneumovirus (HMPV), human parainfluenza 1, 2, 3, 4a and 4b viruses (HPIV). Essential for spread and pathogenesis of influenza A virus (strains H1N1, H3N2 and H7N9); involved in proteolytic cleavage and activation of hemagglutinin (HA) protein which is essential for viral infectivity.",
"evidence": [
{
"database": "UniProtKB",
"id": "O15393",
"url": "https://www.uniprot.org/uniprot/O15393#function"
},
{
"database": "PubMed",
"id": "21068237",
"url": "https://glygen.org/publication/PubMed/21068237"
},
{
"database": "PubMed",
"id": "32142651",
"url": "https://glygen.org/publication/PubMed/32142651"
},
{
"database": "PubMed",
"id": "34159616",
"url": "https://glygen.org/publication/PubMed/34159616"
},
{
"database": "PubMed",
"id": "24027332",
"url": "https://glygen.org/publication/PubMed/24027332"
},
{
"database": "PubMed",
"id": "21325420",
"url": "https://glygen.org/publication/PubMed/21325420"
},
{
"database": "PubMed",
"id": "23966399",
"url": "https://glygen.org/publication/PubMed/23966399"
},
{
"database": "PubMed",
"id": "23536651",
"url": "https://glygen.org/publication/PubMed/23536651"
},
{
"database": "PubMed",
"id": "24227843",
"url": "https://glygen.org/publication/PubMed/24227843"
},
{
"database": "PubMed",
"id": "32404436",
"url": "https://glygen.org/publication/PubMed/32404436"
},
{
"database": "PubMed",
"id": "32703818",
"url": "https://glygen.org/publication/PubMed/32703818"
},
{
"database": "PubMed",
"id": "33051876",
"url": "https://glygen.org/publication/PubMed/33051876"
}
]
},
{
"annotation": "Association between tissue stress reaction and ACE2/TMPRSS2 expression in endometria of reproductive aged women before and during Covid-19 pandemic. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001128571",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128571"
},
{
"database": "PubMed",
"id": "37142998",
"url": "https://glygen.org/publication/PubMed/37142998"
}
]
},
{
"annotation": "Conformational response to ligand binding of TMPRSS2, a protease involved in SARS-CoV-2 infection: Insights through computational modeling.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001128571",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128571"
},
{
"database": "PubMed",
"id": "37409524",
"url": "https://glygen.org/publication/PubMed/37409524"
}
]
},
{
"annotation": "Expression of TMPRSS2 is up-regulated by bacterial flagellin, LPS, and Pam3Cys in human airway cells. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001128571",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128571"
},
{
"database": "PubMed",
"id": "37208193",
"url": "https://glygen.org/publication/PubMed/37208193"
}
]
},
{
"annotation": "Plasma membrane-anchored serine protease that cleaves at arginine residues (PubMed:32703818). Participates in proteolytic cascades of relevance for the normal physiologic function of the prostate (PubMed:25122198). Androgen-induced TMPRSS2 activates several substrates that include pro-hepatocyte growth factor/HGF, the protease activated receptor-2/F2RL1 or matriptase/ST14 leading to extracellular matrix disruption and metastasis of prostate cancer cells (PubMed:15537383, PubMed:26018085, PubMed:25122198). In addition, activates trigeminal neurons and contribute to both spontaneous pain and mechanical allodynia (By similarity).",
"evidence": [
{
"database": "UniProtKB",
"id": "O15393",
"url": "https://www.uniprot.org/uniprot/O15393#function"
},
{
"database": "PubMed",
"id": "25122198",
"url": "https://glygen.org/publication/PubMed/25122198"
},
{
"database": "PubMed",
"id": "26018085",
"url": "https://glygen.org/publication/PubMed/26018085"
},
{
"database": "PubMed",
"id": "15537383",
"url": "https://glygen.org/publication/PubMed/15537383"
},
{
"database": "UniProtKB",
"id": "Q9JIQ8",
"url": "https://www.uniprot.org/uniprot/Q9JIQ8#function"
},
{
"database": "PubMed",
"id": "32703818",
"url": "https://glygen.org/publication/PubMed/32703818"
}
]
},
{
"annotation": "SARS-CoV-2 Omicron entry is type II transmembrane serine protease-mediated in human airway and intestinal organoid models.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001128571",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128571"
},
{
"database": "PubMed",
"id": "37555660",
"url": "https://glygen.org/publication/PubMed/37555660"
}
]
},
{
"annotation": "Spike substitution T813S increases Sarbecovirus fusogenicity by enhancing the usage of TMPRSS2. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001128571",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128571"
},
{
"database": "PubMed",
"id": "37196033",
"url": "https://glygen.org/publication/PubMed/37196033"
}
]
},
{
"annotation": "This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a type II transmembrane domain, a receptor class A domain, a scavenger receptor cysteine-rich domain and a protease domain. Serine proteases are known to be involved in many physiological and pathological processes. This gene was demonstrated to be up-regulated by androgenic hormones in prostate cancer cells and down-regulated in androgen-independent prostate cancer tissue. The protease domain of this protein is thought to be cleaved and secreted into cell media after autocleavage. This protein also facilitates entry of viruses into host cells by proteolytically cleaving and activating viral envelope glycoproteins. Viruses found to use this protein for cell entry include Influenza virus and the human coronaviruses HCoV-229E, MERS-CoV, SARS-CoV and SARS-CoV-2 (COVID-19 virus). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2020].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001128571",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128571"
}
]
}
],
"disease": [],
"snv": [
{
"evidence": [
{
"id": "rs199865751",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199865751"
},
{
"id": "rs199865751",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199865751"
},
{
"id": "rs199865751",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs199865751#frequency_tab"
},
{
"id": "rs199865751",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs199865751"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 121,
"end_pos": 121,
"sequence_org": "D",
"sequence_mut": "N",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DSS->NSS).",
"chr_id": "21",
"chr_pos": "41488478",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "D121",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs867774779",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867774779"
},
{
"id": "rs867774779",
"database": "ENSEMBL",
"url": "https://www.ensembl.org/id/rs867774779"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 129,
"end_pos": 129,
"sequence_org": "P",
"sequence_mut": "L",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPS->NLS).",
"chr_id": "21",
"chr_pos": "41488453",
"ref_nt": "A",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "P129",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs144898971",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144898971"
},
{
"id": "rs144898971",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs144898971"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 157,
"end_pos": 157,
"sequence_org": "I",
"sequence_mut": "T",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFI->NFT).",
"chr_id": "21",
"chr_pos": "41480578",
"ref_nt": "G",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "I157",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs1326192818",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1326192818"
},
{
"id": "rs1326192818",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs1326192818#frequency_tab"
},
{
"id": "rs1326192818",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs1326192818"
}
],
"glycoeffect": [
"n-glyco-sequon-loss"
],
"start_pos": 213,
"end_pos": 213,
"sequence_org": "N",
"sequence_mut": "K",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTS->KTS).",
"chr_id": "21",
"chr_pos": "41479216",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "N213",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs1569017516",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1569017516"
},
{
"id": "rs1569017516",
"database": "ENSEMBL",
"url": "https://www.ensembl.org/id/rs1569017516"
}
],
"glycoeffect": [
"n-glyco-sequon-loss",
"o-glyco-site-loss"
],
"start_pos": 215,
"end_pos": 215,
"sequence_org": "S",
"sequence_mut": "*",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTS->NT*).",
"chr_id": "21",
"chr_pos": "41480563",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "S215",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs1569011625",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1569011625"
},
{
"id": "rs1569011625",
"database": "ENSEMBL",
"url": "https://www.ensembl.org/id/rs1569011625"
}
],
"glycoeffect": [
"n-glyco-sequon-loss",
"o-glyco-site-loss"
],
"start_pos": 215,
"end_pos": 215,
"sequence_org": "S",
"sequence_mut": "A",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTS->NTA).",
"chr_id": "21",
"chr_pos": "41473374",
"ref_nt": "C",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "S215",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs776718328",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776718328"
},
{
"id": "rs776718328",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776718328"
},
{
"id": "rs776718328",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs776718328"
}
],
"glycoeffect": [
"n-glyco-sequon-loss",
"o-glyco-site-loss"
],
"start_pos": 215,
"end_pos": 215,
"sequence_org": "S",
"sequence_mut": "N",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTS->NTN).",
"chr_id": "21",
"chr_pos": "41479211",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "S215",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs767345891",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767345891"
},
{
"id": "rs767345891",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767345891"
},
{
"id": "rs767345891",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs767345891#frequency_tab"
},
{
"id": "rs767345891",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs767345891"
}
],
"glycoeffect": [
"n-glyco-sequon-loss",
"o-glyco-site-loss"
],
"start_pos": 215,
"end_pos": 215,
"sequence_org": "S",
"sequence_mut": "P",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTS->NTP).",
"chr_id": "21",
"chr_pos": "41480564",
"ref_nt": "G",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "S215",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs746162549",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746162549"
},
{
"id": "rs746162549",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746162549"
},
{
"id": "rs746162549",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs746162549"
}
],
"glycoeffect": [
"n-glyco-sequon-loss",
"o-glyco-site-loss"
],
"start_pos": 215,
"end_pos": 215,
"sequence_org": "S",
"sequence_mut": "R",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTS->NTR).",
"chr_id": "21",
"chr_pos": "41479212",
"ref_nt": "G",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "S215",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs1473161161",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1473161161"
},
{
"id": "rs1473161161",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs1473161161"
}
],
"glycoeffect": [
"n-glyco-sequon-loss"
],
"start_pos": 249,
"end_pos": 249,
"sequence_org": "N",
"sequence_mut": "Y",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->YSS).",
"chr_id": "21",
"chr_pos": "41473479",
"ref_nt": "A",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "N249",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs1327183959",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1327183959"
},
{
"id": "rs1327183959",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs1327183959#frequency_tab"
}
],
"glycoeffect": [
"n-glyco-sequon-loss",
"o-glyco-site-loss"
],
"start_pos": 251,
"end_pos": 251,
"sequence_org": "S",
"sequence_mut": "R",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->NSR).",
"chr_id": "21",
"chr_pos": "41473471",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "S251",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs768991619",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768991619"
},
{
"id": "rs768991619",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768991619"
},
{
"id": "rs768991619",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs768991619"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 400,
"end_pos": 400,
"sequence_org": "A",
"sequence_mut": "T",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAA->NAT).",
"chr_id": "21",
"chr_pos": "41471842",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "A400",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs1476104455",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1476104455"
},
{
"id": "rs1476104455",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs1476104455"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 420,
"end_pos": 420,
"sequence_org": "I",
"sequence_mut": "T",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLI->NLT).",
"chr_id": "21",
"chr_pos": "41468451",
"ref_nt": "G",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "I420",
"keywords": [
"ebi",
"germline"
]
},
{
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{
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"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770372922"
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{
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{
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],
"glycoeffect": [
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"start_pos": 452,
"end_pos": 452,
"sequence_org": "I",
"sequence_mut": "T",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NNI->NNT).",
"chr_id": "21",
"chr_pos": "41467846",
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"alt_nt": "null",
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}
],
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{
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"end_pos": 255,
"sequence_org": "R",
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{
"database": "PubMed",
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]
},
{
"start_pos": 441,
"end_pos": 441,
"sequence_org": "S",
"sequence_mut": "A",
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{
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{
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],
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{
"tissue": {
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"id": "0000167",
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"score": "82.12",
"present": "HIGH",
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]
},
{
"tissue": {
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"id": "0000945",
"url": "http://purl.obolibrary.org/obo/UBERON_0000945"
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"score": "95.21",
"present": "HIGH",
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{
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"url": "https://bgee.org/?page=gene&gene_id=ENSG00000184012"
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},
{
"tissue": {
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"score": "84.64",
"present": "HIGH",
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},
{
"tissue": {
"name": "Esophagus",
"namespace": "UBERON",
"id": "0001043",
"url": "http://purl.obolibrary.org/obo/UBERON_0001043"
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"score": "63.25",
"present": "MEDIUM",
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},
{
"tissue": {
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"id": "0001052",
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"present": "HIGH",
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},
{
"tissue": {
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"score": "91.85",
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},
{
"tissue": {
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"id": "0001255",
"url": "http://purl.obolibrary.org/obo/UBERON_0001255"
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"present": "HIGH",
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},
{
"tissue": {
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"score": "87.66",
"present": "HIGH",
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]
},
{
"tissue": {
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"id": "0002048",
"url": "http://purl.obolibrary.org/obo/UBERON_0002048"
},
"score": "75.44",
"present": "HIGH",
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},
{
"tissue": {
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"id": "0002107",
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]
},
{
"tissue": {
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"id": "0002367",
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]
},
{
"tissue": {
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"id": "0005200",
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}
]
}
],
"expression_disease": [
{
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"name": "Prostate cancer [DO disease name]",
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{
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],
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{
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{
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{
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},
{
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},
{
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{
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},
{
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{
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},
{
"id": "MONDO:0012597",
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},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
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},
{
"id": "MONDO:0012597",
"resource": "MONDO",
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},
{
"id": "MONDO:0012597",
"resource": "MONDO",
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},
{
"id": "MONDO:0012741",
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},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "EHBP1 familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "familial prostate cancer caused by mutation in EHBP1",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
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},
{
"id": "MONDO:0012741",
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"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, type 12",
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},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "HPC12",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, type 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "HPC5",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, type 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, susceptibility to, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "HPC3",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, type 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, susceptibility to, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "HPC4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, on chromosome 7",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene."
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "MSMB familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "familial prostate cancer caused by mutation in MSMB",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, type 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "HPC13",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, type 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "HPC8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "predisposing for prostate cancer",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, type 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "HPC6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "HPC10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate carcinoma",
"description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma."
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate carcinoma",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, somatic",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, hereditary",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "HPC7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer aggressiveness",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene."
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "RNASEL familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "familial prostate cancer caused by mutation in RNASEL",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, type 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "HPC1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "Prca1",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "HPC11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "HPC14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "HPC15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "HPCX1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer susceptibility, X-linked",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "HPCX2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MIM:611868",
"resource": "MIM",
"url": "https://www.omim.org/entry/611868",
"name": "Prostate cancer, hereditary, 12",
"description": "Prostate cancer, hereditary, 12"
},
{
"id": "MIM:611928",
"resource": "MIM",
"url": "https://www.omim.org/entry/611928",
"name": "Prostate cancer, hereditary, 13",
"description": "Prostate cancer, hereditary, 13"
},
{
"id": "MIM:176807",
"resource": "MIM",
"url": "https://www.omim.org/entry/176807",
"name": "Prostate cancer",
"description": "Prostate cancer"
},
{
"id": "MIM:601518",
"resource": "MIM",
"url": "https://www.omim.org/entry/601518",
"name": "Prostate cancer, hereditary, 1",
"description": "Prostate cancer, hereditary, 1"
},
{
"id": "MIM:611955",
"resource": "MIM",
"url": "https://www.omim.org/entry/611955",
"name": "Prostate cancer, hereditary, 11",
"description": "Prostate cancer, hereditary, 11"
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Stomach cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10534",
"evidence": [
{
"database": "BioXpress",
"id": "O15393",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15393"
}
],
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{
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{
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{
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"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
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"name": "gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "Ca lesser curvature - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "cancer of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer risk after h. pylori infection",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric tumor",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric tumour",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant stomach neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of greater curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of greater curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of stomach",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of the stomach",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "stomach cancer",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "Ca body - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "ca greater curvature of stomach",
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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",
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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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"name": "tumor of the bladder",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
"description": "A primary or metastatic malignant neoplasm involving the bladder."
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "tumor of the bladder",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "bladder cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "cancer of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor, urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumor",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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"name": "urinary bladder malignant neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumour",
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},
{
"id": "MIM:109800",
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"url": "https://www.omim.org/entry/109800",
"name": "Bladder cancer",
"description": "Bladder cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Head and neck cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11934",
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{
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"id": "O15393",
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],
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{
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},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
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},
{
"id": "DOID:11934",
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},
{
"id": "DOID:11934",
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}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Lung cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1324",
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{
"database": "BioXpress",
"id": "O15393",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15393"
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],
"disease": [
{
"disease_id": "DOID:1324",
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"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1324",
"name": "lung cancer",
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},
"synonyms": [
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
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"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
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"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
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"name": "lung cancer susceptibility",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "LNCR3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "adenocarcinoma of lung, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "LNCR4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "LNCR5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": "A malignant neoplasm involving the lung."
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "cancer of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung neoplasm",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumor",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumour",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "Nonsmall cell lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "alveolar cell carcinoma",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung neoplasm",
"description": ""
},
{
"id": "MIM:211980",
"resource": "MIM",
"url": "https://www.omim.org/entry/211980",
"name": "Lung cancer",
"description": "Lung cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Breast cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1612",
"evidence": [
{
"database": "BioXpress",
"id": "O15393",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15393"
}
],
"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": "No",
"trend": "up",
"name": "Thyroid cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1781",
"evidence": [
{
"database": "BioXpress",
"id": "O15393",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15393"
}
],
"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": "O15393",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15393"
}
],
"disease": [
{
"disease_id": "DOID:263",
"recommended_name": {
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "kidney cancer",
"description": "A urinary system cancer that is located_in the kidney."
},
"synonyms": [
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "malignant neoplasm of kidney except pelvis",
"description": ""
},
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "malignant tumour of kidney",
"description": ""
},
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "renal cancer",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Liver cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:3571",
"evidence": [
{
"database": "BioXpress",
"id": "O15393",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15393"
}
],
"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": "O15393",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15393"
}
],
"disease": [
{
"disease_id": "DOID:363",
"recommended_name": {
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine cancer",
"description": "A female reproductive organ cancer that is located_in the uterus."
},
"synonyms": [
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "CA - cancer of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "Tumour of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterus neoplasm",
"description": ""
}
]
}
]
},
{
"significant": "No",
"trend": "down",
"name": "Esophageal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:5041",
"evidence": [
{
"database": "BioXpress",
"id": "O15393",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15393"
}
],
"disease": [
{
"disease_id": "DOID:5041",
"recommended_name": {
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophageal cancer",
"description": "A gastrointestinal system cancer that is located_in the esophagus."
},
"synonyms": [
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca lower third oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca middle third oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophagus cancer",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of distal third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
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},
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"header": "tr|A0A7I2V474-1|TMPS2_HUMAN Computationally mapped isoform of Transmembrane protease serine 2 OS=Homo sapiens OX=9606 GN=TMPRSS2 PE=1 SV=1 CANONICAL=O15393-1"
},
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{
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"header": "tr|A0A7I2V509-1|A0A7I2V509_HUMAN Computationally mapped isoform of Transmembrane serine protease 2 OS=Homo sapiens OX=9606 GN=TMPRSS2 PE=1 SV=1 CANONICAL=O15393-1"
},
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{
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},
{
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"header": "tr|A0A7I2V5N2-1|TMPS2_HUMAN Computationally mapped isoform of Transmembrane protease serine 2 OS=Homo sapiens OX=9606 GN=TMPRSS2 PE=1 SV=1 CANONICAL=O15393-1"
},
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{
"database": "Ensembl Peptide",
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},
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"header": "tr|A0A7I2V650-1|A0A7I2V650_HUMAN Computationally mapped isoform of Transmembrane serine protease 2 OS=Homo sapiens OX=9606 GN=TMPRSS2 PE=1 SV=1 CANONICAL=O15393-1"
},
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"id": "ENST00000679263.1",
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{
"database": "Ensembl Peptide",
"id": "ENSP00000504602.1",
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]
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},
{
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"header": "tr|A0A7I2YQ98-1|TMPS2_HUMAN Computationally mapped isoform of Transmembrane protease serine 2 OS=Homo sapiens OX=9606 GN=TMPRSS2 PE=1 SV=1 CANONICAL=O15393-1"
},
"locus": {
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"database": "Ensembl Transcript",
"id": "ENST00000678959.1",
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},
{
"database": "Ensembl Peptide",
"id": "ENSP00000503114.1",
"url": "https://www.ensembl.org/id/ENSP00000503114.1"
}
]
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"authors": "Essalmani R, Jain J, Susan-Resiga D, Andreo U, Evagelidis A, Derbali RM, Huynh DN, Dallaire F, Laporte M, Delpal A, Sutto-Ortiz P, Coutard B, Mapa C, Wilcoxen K, Decroly E, Nq Pham T, Cohen EA, Seidah NG",
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"title": "Association between tissue stress reaction and ACE2/TMPRSS2 expression in endometria of reproductive aged women before and during Covid-19 pandemic.",
"journal": "BMC women's health",
"date": "2023-05-04",
"authors": "Ogawa Kanae, Khan Khaleque N, Koshiba Akemi, Fujishita Akira, Horiguchi Go, Teramukai Satoshi, Itoh Kyoko, Guo Sun-Wei, Mori Taisuke",
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"title": "Spike substitution T813S increases Sarbecovirus fusogenicity by enhancing the usage of TMPRSS2.",
"journal": "PLoS pathogens",
"date": "2023-05-17",
"authors": "Ma Yong, Li Pengbin, Hu Yunqi, Qiu Tianyi, Wang Lixiang, Lu Hongjie, Lv Kexin, Xu Mengxin, Zhuang Jiaxin, Liu Xue, He Suhua, He Bing, Liu Shuning, Liu Lin, Wang Yuanyuan, Yue Xinyu, Zhai Yanmei, Luo Wanyu, Mai Haoting, Kuang Yu, Chen Shifeng, Ye Feng, Zhou Na, Zhao Wenjing, Chen Jun, Chen Shoudeng, Xiong Xiaoli, Shi Mang, Pan Ji-An, Chen Yao-Qing",
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"title": "Expression of TMPRSS2 is up-regulated by bacterial flagellin, LPS, and Pam3Cys in human airway cells.",
"journal": "Life science alliance",
"date": "2023-08",
"authors": "Schwerdtner Marie, Skalik Annika, Limburg Hannah, Bierwagen Jeff, Jung Anna Lena, Dorna Jens, Kaufmann Andreas, Bauer Stefan, Schmeck Bernd, B\u00f6ttcher-Friebertsh\u00e4user Eva",
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"title": "Conformational response to ligand binding of TMPRSS2, a protease involved in SARS-CoV-2 infection: Insights through computational modeling.",
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"date": "2023-09",
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"journal": "Journal of virology",
"date": "2023-08-31",
"authors": "Mykytyn Anna Z, Breugem Tim I, Geurts Maarten H, Beumer Joep, Schipper Debby, van Acker Romy, van den Doel Petra B, van Royen Martin E, Zhang Jingshu, Clevers Hans, Haagmans Bart L, Lamers Mart M",
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{
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{
"id": "R-HSA-9681514",
"name": "TMPRSS2 binds TMPRSS2 inhibitors",
"equation": "",
"summary": "Entry of influenza, parainfluenza and coronaviruses into airway epithelial cells requires binding of a viral spike protein to a host cell receptor, followed by cleavage and activation of the viral spike protein mediated by the host cell. Without this cleavage, fusion of the viral and host cell membranes is blocked. The primary receptor for the human SARS-CoV-1 virus is angiotensin converting enzyme 2 (ACE2) (Li et al. 2003). The resultant complex is cleaved by the protease transmembrane protease serine 2 (TMPRSS2) (Shulla et al. 2011, Heurich et al. 2014). Therefore, active site inhibitors of these airway proteases could have broad therapeutic applicability against multiple respiratory viruses (Laporte & Naesens 2017). The approved drug camostat is a protease inhibitor that may block SARS-CoV-2 entry into cells by inhibiting the actions of TMPRSS2 (Kawase et al. 2012, Hoffmann et al. 2020). Nafamostat, another serine protease inhibitor, was found to be a potent inhibitor of S-mediated membrane fusion and blocked MERS-CoV infection in vitro (Yamamoto et al. 2016).
Otamixaban (FXV673), an anticoagulant, is a potent and selective direct inhibitor of coagulation factor Xa. Virtual docking studies suggest that otamixaban may bind to the serine protease TMPRSS2 (Rensi et al. 2020, preprint). Inhibition of TMPRSS2 is being examined for antiviral activity but its inhibitory potential and/or antiviral activity have not yet been determined so it is annotated here as a candidate drug. I-432 is another inhibitor of TMPRSS2 under investigation for anti viral potential (P\u00e1szti-Gere et al. 2016).",
"cellular_location": "extracellular region, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15393-1"
],
"evidence": [
{
"id": "R-HSA-9681514",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9681514"
}
]
},
{
"id": "R-HSA-9686731",
"name": "TMPRSS2 Mediated SARS-CoV-1 Spike Protein Cleavage and Endocytosis",
"equation": "",
"summary": "Transmembrane protease serine 2 (TMPRSS2), associated with the plasma membrane of the host cell, mediates the hydrolytic cleavage of SARS-CoV-1 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 (Matsuyama et al. 2010; Glowacka et al. 2011; Shulla et al. 2011).",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q9BYF1-1",
"O15393-1"
],
"evidence": [
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"id": "R-HSA-9686731",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9686731"
}
]
},
{
"id": "R-HSA-9694661",
"name": "TMPRSS2 Mediated SARS-CoV-2 Spike Protein Cleavage and Endocytosis",
"equation": "",
"summary": "Transmembrane protease serine 2 (TMPRSS2), associated with the plasma membrane of the host cell, 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 (Xia et al, 2020; Bestle et al, 2020; Koch et al, 2021).
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, 2021). 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 TMPRSS2-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).",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q9BYF1-1",
"O15393-1"
],
"evidence": [
{
"id": "R-HSA-9694661",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694661"
}
]
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{
"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-9770187",
"name": "S2 Cleavage by TMPRSS2 Exposes S2' Initiating Cell-Cell Fusion",
"equation": "",
"summary": "SARS-CoV-2 fusion protein (S2', FP, fusion peptide) is a protein (458 aa) which is cleaved from the S2 fragment by TMPRSS2 and possibly other unknown host endopeptidases (Bestle et al, 2020; Navaratnarajah et al, 2021; reviewed by Takeda, 2022). S2' initiates membrane fusion by oligomerizing into an aggregated \u03b2-sheet conformation, especially when situated in cholesterol containing membrane regions. This conformation supports local membrane perturbations, a prerequisite for creation of point-like protrusions of membrane, leading to the formation of a fusion pore. Multiple membrane active regions of the Spike protein might be involved in membrane fusion in a concerted or synergistic fashion, see (Chakrabortya and Bhattacharjya, 2020) for review.
In SARS-CoV-2, inhibition of actin polymerization blocked fusion, consistent with a putative role for cortical actomyosin-generated mechanical forces in fusion pore formation. Membrane cholesterol is required for fusion but is delivered via a raft-independent mechanism; cholesterol present in the plasma membrane greatly enhanced viral-spoke association and membrane fusion (Sanders et al, 2021). Of all proteins in viruses that infect humans, SARS-CoV-2 spike features the highest cysteine content, and it appears palmitoylation (a non-enzymatic modification) of these cysteines is essential for its ability to initiate membrane fusion (Sanders et al, 2021; Nguyen et al, 2021; Li et al, 2022). Additionally it appears that Ca2+-activated TMEM6 family transmembrane transport proteins, in particular ubiquitous anoctamin-6 (ANO6, TMEM16F), are essential for cell-cell fusion. TMEM16 phospholipid scramblases translocate phospholipids bidirectionally between the plasma membrane leaflets which can serve as a fusion signal (Braga et al, 2021; Whitlock & Chernomordik, 2021).",
"cellular_location": "plasma membrane",
"input_participant_list": [
"R-COV-9698995"
],
"output_participant_list": [
"R-COV-9770188",
"R-COV-9770189"
],
"enzyme_list": [
"O15393-1"
],
"evidence": [
{
"id": "R-HSA-9770187",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9770187"
}
]
}
],
"reaction_participants": [
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"participant_id": "R-COV-9698995",
"participant_name": "S2 trimer [plasma membrane]",
"crossref": [
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"id": "CPX-7043",
"database": "ComplexPortal",
"url": ""
}
]
},
{
"participant_id": "R-COV-9770188",
"participant_name": "S(686-815) [plasma membrane]",
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"id": "GLY_000625",
"database": "GlyGen",
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},
{
"id": "32437018",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/32437018"
}
]
},
{
"best_biomarker_type": "prognostic",
"status": "increased TMPRSS2 level",
"disease": {
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"recommended_name": {
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"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",
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"url": "http://disease-ontology.org/term/DOID:10283",
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"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",
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"description": ""
},
{
"id": "DOID:10283",
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"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostatic cancer",
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},
{
"id": "DOID:10283",
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},
{
"id": "DOID:10283",
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"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",
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"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
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},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
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},
{
"id": "MONDO:0012597",
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},
{
"id": "MONDO:0012741",
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},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "EHBP1 familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "familial prostate cancer caused by mutation in EHBP1",
"description": ""
},
{
"id": "MONDO:0012741",
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{
"id": "MONDO:0012741",
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},
{
"id": "MONDO:0012741",
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"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
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"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",
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},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
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},
{
"id": "MONDO:0012093",
"resource": "MONDO",
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},
{
"id": "MONDO:0012093",
"resource": "MONDO",
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"name": "prostate cancer, hereditary, type 3",
"description": ""
},
{
"id": "MONDO:0012093",
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"url": "https://monarchinitiative.org/disease/MONDO:0012093",
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},
{
"id": "MONDO:0012093",
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},
{
"id": "MONDO:0012094",
"resource": "MONDO",
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},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
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"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, type 4",
"description": ""
},
{
"id": "MONDO:0012094",
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"name": "prostate cancer, susceptibility to, 4",
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},
{
"id": "MONDO:0012094",
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},
{
"id": "MONDO:0012094",
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"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, on chromosome 7",
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},
{
"id": "MONDO:0012758",
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"url": "https://monarchinitiative.org/disease/MONDO:0012758",
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{
"id": "MONDO:0012758",
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"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "MSMB familial prostate cancer",
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},
{
"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",
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"description": ""
},
{
"id": "MONDO:0012758",
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},
{
"id": "MONDO:0011270",
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"name": "prostate cancer, hereditary, 8",
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},
{
"id": "MONDO:0011270",
"resource": "MONDO",
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"name": "prostate cancer, hereditary, 8",
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},
{
"id": "MONDO:0011270",
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"url": "https://monarchinitiative.org/disease/MONDO:0011270",
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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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},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
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},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
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},
{
"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",
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},
{
"id": "MONDO:0012300",
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},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
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},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "HPC10",
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},
{
"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",
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},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate cancer",
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},
{
"id": "MONDO:0023122",
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},
{
"id": "MONDO:0023122",
"resource": "MONDO",
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},
{
"id": "MONDO:0023122",
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},
{
"id": "MONDO:0023122",
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{
"id": "MONDO:0023122",
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{
"id": "MONDO:0023122",
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{
"id": "MONDO:0023122",
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{
"id": "MONDO:0012470",
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{
"id": "MONDO:0012470",
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{
"id": "MONDO:0012470",
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{
"id": "MONDO:0012470",
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{
"id": "MONDO:0011098",
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{
"id": "MONDO:0011098",
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},
{
"id": "MONDO:0011098",
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"url": "https://monarchinitiative.org/disease/MONDO:0011098",
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},
{
"id": "MONDO:0011098",
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"name": "prostate cancer 1",
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},
{
"id": "MONDO:0011098",
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{
"id": "MONDO:0011098",
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"description": ""
},
{
"id": "MONDO:0011098",
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},
{
"id": "MONDO:0011098",
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{
"id": "MONDO:0012768",
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{
"id": "MONDO:0012768",
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},
{
"id": "MONDO:0012768",
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"name": "prostate cancer, hereditary, 11",
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},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
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},
{
"id": "MONDO:0012769",
"resource": "MONDO",
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"name": "HPC14",
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},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
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},
{
"id": "MONDO:0012770",
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{
"id": "MONDO:0012770",
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},
{
"id": "MONDO:0012770",
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},
{
"id": "MONDO:0010257",
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},
{
"id": "MONDO:0010257",
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},
{
"id": "MONDO:0010257",
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{
"id": "MONDO:0010257",
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},
{
"id": "MONDO:0010405",
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"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
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{
"id": "MONDO:0010405",
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{
"id": "MONDO:0010405",
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{
"id": "MIM:611868",
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{
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{
"id": "MIM:176807",
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"name": "Prostate cancer",
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{
"id": "MIM:601518",
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{
"id": "MIM:611955",
"resource": "MIM",
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]
},
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{
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}
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],
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